serial-number
stringlengths 6
9
| pmcid
stringclasses 138
values | text
stringclasses 138
values | context
stringclasses 138
values | role
stringclasses 18
values | role-name
stringclasses 18
values | raw-initial-ground-truth
listlengths 0
18
|
|---|---|---|---|---|---|---|
test-2201
|
8138145
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed ( Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification",
"An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed ( Fig. 2b ). The staining of elastic fibers ( Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside"
] |
test-2202
|
8138145
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
Cardiovascular-System
|
CVS
|
[] |
test-2203
|
8138145
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
Endocrinology
|
ENDO
|
[] |
test-2204
|
8138145
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
Genitourinary-System
|
GU
|
[] |
test-2205
|
8138145
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
Respiratory-System
|
RESP
|
[] |
test-2206
|
8138145
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
Musculoskeletal-System
|
MSK
|
[] |
test-2207
|
8138145
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"severe visual acuity diminution and angioid striae of the retina",
"Fundus examination in both eyes revealed classic - appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy ( peripapillary ), and choroidal neovascularization",
"ocular findings"
] |
test-2208
|
8138145
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
Dermatology
|
DERM
|
[
"dermatosis in the neck",
"confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic",
"The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed ( Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification",
"bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin - colored papules 3–4 mm in diameter",
"An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed ( Fig. 2b ). The staining of elastic fibers ( Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside",
"characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin : calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain"
] |
test-2209
|
8138145
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
Pregnancy
|
Pregnancy
|
[] |
test-2210
|
8138145
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-2211
|
8138145
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"36 years",
"59 years"
] |
test-2212
|
8138145
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-2213
|
8138145
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma",
"With the histopathological study and fundus examination findings , the diagnosis of PXE was confirmed this case ."
] |
test-2214
|
8138145
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
{'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characterized by confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic (Fig. 1a ). An incisional biopsy was taken by punching, with diagnosis of PXE versus mucinous papulosis. The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and the superficial reticular dermis. In the middle reticular dermis, short, basophilic, granular, and irregularly shaped fibers were observed (Fig. 1b ). With staining for elastic fibers, they were shown to be fragmented, and Von Kossa staining evidenced their calcification (Fig. 1c ). These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma.', 'Case Number Two': 'A female patient of 59 years, resident and originally from the city of Zacatecas, Zacatecas, Mexico, was referred by the ophthalmological service due to severe visual acuity diminution and angioid striae of the retina, with no other important data. During physical examination, bilateral symmetrical dermatosis was observed, predominantly in folds, characterized by loose skin, soft texture, and plaques consisting of skin-colored papules 3–4 mm in diameter (Fig. 2a ). An incisional biopsy was taken by punching, with a clinical diagnosis of PXE. In the sections, thin and anfractuous epidermis was observed, with the stratum corneum in basket weave and the stratum spinosum with flattening of the interpapillary projections. In the middle reticular dermis, irregularly arranged short basophilic fibers were observed (Fig. 2b ). The staining of elastic fibers (Fig. 2c ) showed that the fragmented debris corresponded to these fibers and Von Kosa staining showed the presence of calcium inside. Fundus examination in both eyes revealed classic-appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy (peripapillary), and choroidal neovascularization (Fig. 3a, b ). With the histopathological study and fundus examination findings, the diagnosis of PXE was confirmed this case. The diagnosis criteria used were in the first case skin findings like characteristic pseudoxanthomatous papules and plaques on the neck or flexural creases, and histopathological changes in lesional skin: calcified elastic fibers in the mid and lower dermis, confirmed by positive calcium stain. For the second case, the diagnosis criteria included ocular findings. The difficulty in diagnosing PXE often relates to the observation of PXE-like cutaneous lesions. In both cases, we performed differential diagnosis with Marfan syndrome, papillary dermal elastolysis, papular elastorrhexis body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency, severe actinic damage to the lateral part of the neck, and cutis laxa. However, histopathology of these lesions did not reveal tissue mineralization PXE-like cutaneous changes.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
test-2215
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"heart rate of 90 bpm and blood pressure of 160/90 mmHg",
"hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C - reactive protein were normal"
] |
test-2216
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
Gastrointestinal-System
|
GI
|
[
"Recurrence of abdominal pain, nausea, and vomiting",
"proctitis",
"intense abdominal pain",
"intermittently tender, non - distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding",
"distended colon and fecal impaction",
"rectal blood",
"proctitis",
"abdominal pain and constipation",
"severe abdominal pain, nausea, and vomiting",
"Epigastric pain",
"abdominal pain"
] |
test-2217
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
Patient-History
|
History
|
[
"Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient",
"The patient had no known family history of porphyria",
"transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro - pathy",
"treated for hypertension since 1994 and developed ischemic heart disease",
"a left nephrectomy was performed for a small incidental renal carcinoma",
"deceased - donor kidney transplant in 2015",
"diabetes mellitus post - transplant"
] |
test-2218
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
Neurology
|
Neuro
|
[
"anxiety",
"AIP",
"mild distress",
"anxious mood and low energy level",
"agitation and anxiety"
] |
test-2219
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"His urinary postprandial blood glucose level was 60 mg/24 h ( normal, < 2 mg/24 h",
"Plain X - rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops. ', ' Laboratory examinations ' : ' Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C - reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg / dL; the urine culture was negative. '",
"ultrasound examination demonstrated small echogenic kidneys",
"The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis"
] |
test-2220
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
Cardiovascular-System
|
CVS
|
[
"hypertension",
"hemodynamically stable",
"tachycardia and an increase in blood pressure",
"thoracic pain",
"precordial pain",
"for hypertension",
"ischemic heart disease"
] |
test-2221
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
Endocrinology
|
ENDO
|
[
"diabetes mellitus which required insulin",
"diabetes mellitus"
] |
test-2222
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
Genitourinary-System
|
GU
|
[
"suspected nephroangiosclerosis and chronic interstitial nephro - pathy",
"Renal function was stable with a serum creatinine of 1.2 mg / dL; the urine culture was negative",
"His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy",
"small echogenic kidneys",
"small incidental renal carcinoma",
"The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis"
] |
test-2223
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
Respiratory-System
|
RESP
|
[] |
test-2224
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
Musculoskeletal-System
|
MSK
|
[] |
test-2225
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
test-2226
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
Dermatology
|
DERM
|
[] |
test-2227
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
Pregnancy
|
Pregnancy
|
[] |
test-2228
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-2229
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"65 - year - old",
"65 - year - old"
] |
test-2230
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-2231
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[] |
test-2232
|
8771597
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
{'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro-pathy. He subsequently developed diabetes mellitus which required insulin therapy. He had been treated in the recent past with local mesalamine for proctitis. He presented with classic but common symptoms of AIP including intense abdominal pain, hypertension, and anxiety. He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained. His urinary postprandial blood glucose level was 60 mg/24 h (normal, < 2 mg/24 h). He was placed on a high carbohydrate diet, and his symptoms slowly improved.', 'Physical examination': 'The patient was hemodynamically stable with a heart rate of 90 bpm and blood pressure of 160/90 mmHg, but appeared in mild distress. The physical examination revealed an intermittently tender, non-distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding. The remainder of the physical exami-nation was unremarkable.', 'Imaging examinations': 'Plain X-rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephrectomy was occupied by intestinal loops.', 'Laboratory examinations': 'Serum levels of hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C-reactive protein were normal, as was the urine analysis. Renal function was stable with a serum creatinine of 1.2 mg/dL; the urine culture was negative.', 'History of present illness': 'A 65-year-old man reported the appearance of rectal blood in March 2017 and visited a proctologist. He started local mesalamine therapy for proctitis, but the drug was discontinued a few days later due to abdominal pain and constipation. During the subsequent 6 mo, he presented several times to the emergency department complaining of severe abdominal pain, nausea, and vomiting. He related an anxious mood and low energy level in addition to tachycardia and an increase in blood pressure which was no longer well-controlled with his usual therapy. He presented to the emergency room eight times for various complaints (Figure 1 ): Epigastric pain without mention of mesalamine, agitation and anxiety, thoracic pain, abdominal pain, and precordial pain.', 'History of past illness': 'The patient had been treated for hypertension since 1994 and developed ischemic heart disease. His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy, as ultrasound examination demonstrated small echogenic kidneys. He started hemodialysis in 2008 and was evaluated for renal transplantation; a left nephrectomy was performed for a small incidental renal carcinoma. The histopathologic examination of the nephrectomy specimen revealed angiosclerosis and tubulointerstitial fibrosis. He underwent a deceased-donor kidney transplant in 2015, for which he was treated with tacrolimus, mycophenolate mofetil, and methylprednisolone. He developed diabetes mellitus post-transplant and insulin therapy was initiated (see Table 1 ).'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"He was placed on a high carbohydrate diet ,"
] |
test-2233
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
test-2234
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
Gastrointestinal-System
|
GI
|
[] |
test-2235
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
Patient-History
|
History
|
[
"A 14 - year - old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present",
"A history of skin laxity or joint hypermobility was absent",
"Family history was not significant"
] |
test-2236
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
Neurology
|
Neuro
|
[] |
test-2237
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Hematoxylin and eosin ( H&E ) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid - dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von - Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid - fast bacilli was non - contributory.",
"Hematoxylin and Eosin stained section of skin biopsy showed ( a ) upper and mid dermis ( demarcated by black line ) involved with a prominent chronic inflammatory infiltrate, ( b ) Deep basophilic mucoid material in dermis ( demarcated by arrow mark & star mark ) stained positive for alcian blue and, ( c ) colloidal iron and, ( d ) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain"
] |
test-2238
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
Cardiovascular-System
|
CVS
|
[] |
test-2239
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
Endocrinology
|
ENDO
|
[] |
test-2240
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
Genitourinary-System
|
GU
|
[] |
test-2241
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
Respiratory-System
|
RESP
|
[] |
test-2242
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
Musculoskeletal-System
|
MSK
|
[
"joint hypermobility was absent"
] |
test-2243
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
test-2244
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
Dermatology
|
DERM
|
[
"few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present",
"skin laxity or joint hypermobility was absent",
"2–5 mm lesions ( milia ) over face",
"Hematoxylin and eosin ( H&E ) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid - dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von - Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid - fast bacilli was non - contributory.",
"Hematoxylin and Eosin stained section of skin biopsy showed ( a ) upper and mid dermis ( demarcated by black line ) involved with a prominent chronic inflammatory infiltrate, ( b ) Deep basophilic mucoid material in dermis ( demarcated by arrow mark & star mark ) stained positive for alcian blue and, ( c ) colloidal iron and, ( d ) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain"
] |
test-2245
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
Pregnancy
|
Pregnancy
|
[] |
test-2246
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-2247
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"14 - year - old"
] |
test-2248
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-2249
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"Based on characteristic histopathology features , a diagnosis of PXE was offered"
] |
test-2250
|
9006764
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
{'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present. Clinically, differential diagnosis of Milia over erythematous base was suggested. A history of skin laxity or joint hypermobility was absent. The general physical examination and systemic examination were within the normal limit. Family history was not significant. The clinician kept Milia en plaque and Pseudoxanthoma elasticum as differential diagnosis. A punch biopsy of the lesions was performed, and the tissue was sent for histopathological analysis to confirm the clinical diagnosis. Fig. 1 2–5 mm lesions (milia) over face. Fig. 1 Hematoxylin and eosin (H&E) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and lower dermis revealed a prominent zone of chronic inflammatory infiltrate comprising of lymphocytes, histiocytes, and occasional plasma cells. Giant cells were also evident in the mid-dermis. In the middle reticular dermis, deposition of basophilic mucoid material along with haphazardly arranged clumped fragmented elastic fibres were seen. This basophilic mucoid material stained positive for alcian blue, colloidal iron, and Von-Kossa ( Fig. 2 ). The adnexal structures and subcutaneous adipose tissues were essentially unremarkable. Staining for acid-fast bacilli was non-contributory. Based on characteristic histopathology features, a diagnosis of PXE was offered. Fig. 2 Hematoxylin and Eosin stained section of skin biopsy showed (a) upper and mid dermis (demarcated by black line) involved with a prominent chronic inflammatory infiltrate, (b) Deep basophilic mucoid material in dermis (demarcated by arrow mark & star mark) stained positive for alcian blue and, (c) colloidal iron and, (d) Fragmentation and calcification of dermal elastic fibers is evident on Von Koss stain. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.) Fig. 2'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
test-2251
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"Blood pressure remained normal"
] |
test-2252
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
Gastrointestinal-System
|
GI
|
[] |
test-2253
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
Patient-History
|
History
|
[
"A 24 - year - old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease ( CKD ) was referred for preconception counseling",
"There were no overt extra - renal complications apart from mild photophobia",
"The infant had normal growth and development at 18 months and a normal leucocyte cystine level."
] |
test-2254
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
Neurology
|
Neuro
|
[] |
test-2255
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Cystinosis was confirmed by an elevated leucocyte cystine level in infancy",
"Her average prepregnancy urine protein - to - creatinine ratio was 132 mg / mmol, α1 - microglobulin - to - creatinine ratio was 30.7 mg / mmol, and estimated glomerular filtration rate ( eGFR ) was 89 ml per minute per 1.73 m 2",
"proteinuria and eGFR increased during pregnancy",
"Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein"
] |
test-2256
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
Cardiovascular-System
|
CVS
|
[] |
test-2257
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
Endocrinology
|
ENDO
|
[] |
test-2258
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
Genitourinary-System
|
GU
|
[] |
test-2259
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
Respiratory-System
|
RESP
|
[] |
test-2260
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
Musculoskeletal-System
|
MSK
|
[] |
test-2261
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"mild photophobia"
] |
test-2262
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
Dermatology
|
DERM
|
[] |
test-2263
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
Pregnancy
|
Pregnancy
|
[
"Blood pressure remained normal with no evidence of gestational hypertension or pre - eclampsia",
"The pregnancy was complicated by recurrent urinary tract infections ( UTIs ) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia",
"She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes",
"The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1 - microglobulin - to - creatinine ratio and eGFR were stable",
"She exclusively breastfed for 4 months and discontinued at 5 months"
] |
test-2264
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-2265
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"24 - year - old"
] |
test-2266
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
Age-of-Onset
|
Age (of onset)
|
[
"infancy"
] |
test-2267
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease ( CKD )"
] |
test-2268
|
9263244
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
{'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made possible by cystinosis in an older sibling, and good treatment adherence contributed to delayed kidney disease progression. Electrolyte abnormalities secondary to Fanconi syndrome were treated with daily supplemental dosages of potassium 96 mmol, phosphate 25.2 mmol, and sodium bicarbonate 53.6 mmol. There were no overt extra-renal complications apart from mild photophobia. Her average prepregnancy urine protein-to-creatinine ratio was 132 mg/mmol, α1-microglobulin-to-creatinine ratio was 30.7 mg/mmol, and estimated glomerular filtration rate (eGFR) was 89 ml per minute per 1.73 m 2 . On confirmation of pregnancy, losartan and cysteamine were discontinued. Low-dose aspirin was initiated for the prevention of pre-eclampsia. As expected, proteinuria and eGFR increased during pregnancy. 8 Blood pressure remained normal with no evidence of gestational hypertension or pre-eclampsia. Daily electrolyte supplementation increased to potassium 128 mmol and phosphate 33.6 mmol, with no increase in the dose of sodium bicarbonate. Average leucocyte cystine increased from 0.15 nmol ½ cystine per mg protein to 4 nmol ½ cystine per mg protein. The pregnancy was complicated by recurrent urinary tract infections (UTIs) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia. After treatment of the complicated UTI, prophylactic oral antibiotics were administered for the remainder of pregnancy without UTI recurrence. She developed spontaneous preterm rupture of membranes at 33 weeks and 1 day gestation, and delivered a male infant who weighed 1886 g via spontaneous vaginal delivery. Apgar scores were 4, 7, and 9 at 1, 5, and 10 minutes. The infant was admitted to the neonatal intensive care unit for 23 days. Cysteamine was reinitiated immediately after delivery and enalapril was initiated at 2 weeks postpartum. The postpartum proteinuria stabilized at a level higher than the prepregnancy values, and α1-microglobulin-to-creatinine ratio and eGFR were stable ( Figure 1 ). Figure 1 Urinary proteins and eGFR at baseline, during pregnancy and postpartum. eGFR, estimated glomerular filtration rate. While breastfeeding, her delayed-release cysteamine dosage was 675 mg twice daily (0.84 mg/m 2 /d) compared with her prepregnancy dosage of 825 mg twice daily (1.06 mg/m 2 /d). The cysteamine dosage was reduced during breastfeeding as a precaution because of the lack of lactation safety data. She exclusively breastfed for 4 months and discontinued at 5 months. The cysteamine dosage subsequently stabilized at 750 mg twice daily (0.95 mg/m 2 /d). Breastmilk samples were collected and analyzed ( Table 1 and Supplementary Methods ). The calculated relative infant dose was 0.4%. The predicted infant cysteamine dose over 24 hours was 0.52 mg. Infant cysteamine levels were not measured. The infant had normal growth and development at 18 months and a normal leucocyte cystine level. Table 1 Breastmilk cysteamine concentration relative to dose of delayed-release cysteamine bitartrate at steady state Time postdose (h) Breastmilk cysteamine concentration (mg/l) 0 0.12 2 0.76 4 1.87 6 0.51'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"Cysteamine was reinitiated immediately after delivery"
] |
test-2269
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
test-2270
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
Gastrointestinal-System
|
GI
|
[] |
test-2271
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
Patient-History
|
History
|
[
"A 32 - year - old female ( gravida 4 para 3 ) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia ( CAH )",
"surfacing of psychological issues for the proband sibling with regards to her external genitalia"
] |
test-2272
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
Neurology
|
Neuro
|
[] |
test-2273
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"A postnatal follow - up MRI of the patient on day 10 of life showed a total brain volume ( 300.82 cm 3 ) that was below the 5th percentile for age - matched, healthy infants",
"The neonate had an elevated serum 17 - OHP of 11,500 ng / dL ( normal range for term newborns within 12 h of birth : ≤460 ng / dL ), androstenedione 4917 ng / dL ( normal range not established for newborns; normal range for infants : 6–78 ng / dL ), and testosterone 279 ng / dL ( normal range of females 1–10 days old : ≤24 ng / dL )"
] |
test-2274
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
Cardiovascular-System
|
CVS
|
[] |
test-2275
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
Endocrinology
|
ENDO
|
[
"Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds",
"no concerns for adrenal crisis"
] |
test-2276
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
Genitourinary-System
|
GU
|
[
"Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds"
] |
test-2277
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
Respiratory-System
|
RESP
|
[] |
test-2278
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
Musculoskeletal-System
|
MSK
|
[] |
test-2279
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
test-2280
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
Dermatology
|
DERM
|
[
"hyperpigmentation and rugation of the labioscrotal folds."
] |
test-2281
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
Pregnancy
|
Pregnancy
|
[
"The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks ( GWs ), ultrasound revealed genitalia that were female - appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30 - kb deletion on the other allele",
"At 29.14 GW, high - resolution prenatal ultrasound ( General Electric, 5 - 9 MHz transducer ) was performed and three serial 2D measurements of the biparietal diameter ( 71.1 mm; 20th percentile ) of the fetus and two serial 2D measurements of the head circumference ( 258.1 mm; 3rd percentile ) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging ( MRI; Philips 1.5 T ) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that can not be obtained by ultrasound alone. 3 2 - D and 3 - D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1. 2 - D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age - matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3 - D measurements were obtained of the extra - axial cerebrospinal fluid ( CSF ) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls"
] |
test-2282
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-2283
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"fetal age was 15 weeks and 4 days"
] |
test-2284
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-2285
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"prenatal diagnosis of CAH due to 21 - hydroxylase deficiency"
] |
test-2286
|
9344108
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
{'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks (GWs), ultrasound revealed genitalia that were female-appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities. CYP21A2 gene testing of DNA from amniotic fluid showed compound heterozygosity for an R356W mutation on one allele and a 30-kb deletion on the other allele, confirming a prenatal diagnosis of CAH due to 21-hydroxylase deficiency. Parental genetic testing confirmed the fetal genotype. The mother subsequently underwent multiple consultative and care appointments on a bi-weekly/monthly basis with endocrinology, genetic counseling, psychology, urology, and perinatology until delivery at the Fetal Maternal Center, and followed at our CAH Comprehensive Care Center. 1 This next pregnancy led to the surfacing of psychological issues for the proband sibling with regards to her external genitalia, and the related challenges the family experienced during her first year of life, prior to the establishment of our center. It was imperative to immediately address and resolve these issues for both the proband sibling and the family, prior to the arrival of the next affected female child, so that the experience for all family members would be much improved via therapy, education, and a supported effort by the care provider team for CAH. At 29.14 GW, high-resolution prenatal ultrasound (General Electric, 5-9 MHz transducer) was performed and three serial 2D measurements of the biparietal diameter (71.1 mm; 20th percentile) of the fetus and two serial 2D measurements of the head circumference (258.1 mm; 3rd percentile) were averaged and compared with standard references using the Hadlock growth curves. 2 At 30.57 GW, fetal magnetic resonance imaging (MRI; Philips 1.5T) was performed to better evaluate clinically for other abnormalities as MRI can provide information regarding certain conditions like white matter abnormalities and temporal lobe atrophy that cannot be obtained by ultrasound alone. 3 2-D and 3-D MRI measurements of fetal brain structures were computed ( Figure 1 ) and shown in Table 1 . 2-D measurements of brain biparietal diameter, occipitofrontal diameter, skull biparietal diameter, and occipitofrontal diameter, and calculated head circumference were recorded. 4 Significant deficits were noted for skull biparietal diameter and occipitofrontal diameter versus age-matched controls ( Figure 2 ). 5, 6 Absolute biparietal diameter measurements were similar for ultrasound and MRI. 3-D measurements were obtained of the extra-axial cerebrospinal fluid (CSF) volume, supratentorial volume, cerebellar volume, cortical plate volume, and total lateral ventricles volume ( Figure 3 ). 4 Total intracranial volume and deep gray matter volume, but not developing white matter, showed deficits versus controls ( Table 1 ). 5 - 7 A postnatal follow-up MRI of the patient on day 10 of life showed a total brain volume (300.82 cm 3 ) that was below the 5th percentile for age-matched, healthy infants. 8 The neonate was born at 39.14 GW, via uncomplicated vaginal delivery, and seen in the CAH clinic 3 days after birth. On physical examination, she was Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds. Her examination was otherwise unremarkable. She was a well-appearing neonate with no concerns for adrenal crisis. Hormone analytes were measured at the visit, prior to initiation of treatment, and included: 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (LC-MS/MS for all; Quest Nichols Diagnostic Laboratory, San Juan Capistrano, CA). The neonate had an elevated serum 17-OHP of 11,500 ng/dL (normal range for term newborns within 12 h of birth: ≤460 ng/dL), androstenedione 4917 ng/dL (normal range not established for newborns; normal range for infants: 6–78 ng/dL), and testosterone 279 ng/dL (normal range of females 1–10 days old: ≤24 ng/dL).'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
test-2287
|
9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
test-2288
|
9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
Gastrointestinal-System
|
GI
|
[
"severe abdominal pain, constipation",
"severe abdominal pain",
"abdominal pain"
] |
test-2289
|
9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
Patient-History
|
History
|
[
"severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic - clonic seizure associated with low - grade fever"
] |
test-2290
|
9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
Neurology
|
Neuro
|
[
"headache",
"an attack of generalized tonic - clonic seizure",
"confused in post ictal state. Otherwise, the neurological and general examination was unremarkable",
"Urgent brain computed tomography ( CT ) scan showed brain edema",
"began to become agitated",
"weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic",
"Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy ( prolonged first time ( F ) wave latencies with reduced amplitude of compound motor action potentials",
"respiratory muscle involvement",
"The CSF examination showed cytoalbuminous dissociation",
"weakness"
] |
test-2291
|
9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Urgent brain computed tomography ( CT ) scan showed brain edema",
"abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air - fluid level or obstructing masses",
"The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level : 108 milliequivalents per liter ( mEq / L ), potassium level : 2.7 mEq / L, total calcium level : 4.9 mg / dl, ionized calcium level : 3.5 mg / dl, magnesium level : 0.7 mEq / L, and phosphorus level : 2.1 mEq / L ( table 1",
"urine osmolarity 277mOml / kg, serum osmolality 252 mmol / kg, serum chloride 73 mEq / L, and urinary Calcium / creatinine ratio 1.053",
"The CSF examination showed cytoalbuminous dissociation",
"Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase ( HMBS ) gene"
] |
test-2292
|
9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
Cardiovascular-System
|
CVS
|
[
"hemodynamically stable"
] |
test-2293
|
9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
Endocrinology
|
ENDO
|
[
"polyuria, and polydipsia"
] |
test-2294
|
9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
Genitourinary-System
|
GU
|
[
"marked electrolyte disturbances; sodium level : 108 milliequivalents per liter ( mEq / L ), potassium level : 2.7 mEq / L, total calcium level : 4.9 mg / dl, ionized calcium level : 3.5 mg / dl, magnesium level : 0.7 mEq / L, and phosphorus level : 2.1 mEq / L ( table 1",
"polyuria, and polydipsia",
"renal tubular defect with increased renal loss of electrolyte",
"urine osmolarity 277mOml / kg, serum osmolality 252 mmol / kg, serum chloride 73 mEq / L, and urinary Calcium / creatinine ratio 1.053"
] |
test-2295
|
9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
Respiratory-System
|
RESP
|
[
"respiratory muscle involvement"
] |
test-2296
|
9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
Musculoskeletal-System
|
MSK
|
[
"developed generalized muscle pain",
"weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic",
"respiratory muscle involvement",
"weakness"
] |
test-2297
|
9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
test-2298
|
9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
Dermatology
|
DERM
|
[] |
test-2299
|
9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
Pregnancy
|
Pregnancy
|
[] |
test-2300
|
9637264
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
{'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic-clonic seizure associated with low-grade fever. On examination, the patient was confused in post ictal state. Otherwise, the neurological and general examination was unremarkable. Patient was hemodynamically stable. Urgent brain computed tomography (CT) scan showed brain edema ( figure 1 ). Cerebrospinal fluid (CSF) analysis, routine blood chemistry tests, blood culture, and serum electrolyte evaluation were performed. On a clinical basis, central nervous system infection was suspected and the patient started to receive acyclovir. Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses ( figure 1 ). The initial results of laboratory investigation revealed marked electrolyte disturbances; sodium level: 108 milliequivalents per liter (mEq/L), potassium level: 2.7 mEq/L, total calcium level: 4.9 mg/dl, ionized calcium level: 3.5 mg/dl, magnesium level: 0.7 mEq/L, and phosphorus level: 2.1 mEq/L ( table 1 ). Within the next few days, the patient began to become agitated and developed generalized muscle pain despite proper correction of resistant hyponatremia with hypertonic saline 3%. In addition, the patient started to develop polyuria, and polydipsia, despite the normovolemic state, confirmed by clinical examination and central venous pressure monitoring. High suspicion to Bartter-like syndrome was raised as the renal tubular defect with increased renal loss of electrolyte was confirmed by the following laboratory investigation: urine osmolarity 277mOml/kg, serum osmolality 252 mmol/kg, serum chloride 73 mEq/L, and urinary Calcium/creatinine ratio 1.053 ( table 1 ). Within the next few days, she developed weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic. The rest of the examination was normal. Our opinion about the case changed and we had a rising concern about genetic disease. At that time, the whole-exome sequencing was sent abroad to CENTOGENE GmbH (Rostock, Germany) for genetic analysis. Electrophysiological studies were done, which revealed evidence of purely motor axonal polyneuropathy affecting upper and lower limbs with bilateral facial axonal neuropathy (prolonged first time (F) wave latencies with reduced amplitude of compound motor action potentials). Unfortunately, the condition worsened till the patient became intubated and mechanically ventilated due to respiratory muscle involvement. The CSF examination showed cytoalbuminous dissociation, and this made the diagnosis more in favor of Guillain-Barre Syndrome (GBS). The patient received intravenous immunoglobulin (IV IG) (2gm per Kg divided over 5 days) with partial improvement. Due to the failure of multiple trials for weaning from mechanical ventilation, tracheostomy was performed. Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP ( figure 2 ). The patient received dextrose 25% and 2 doses of hemin 250 mg once daily for four days, 2 weeks apart followed by another dose after 2 months. There was a marked improvement regarding the weakness, and abdominal pain, and we managed to wean her from mechanical ventilation.'}
|
Lymphatic-System
|
LYMPH
|
[] |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.