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|---|---|---|---|---|---|
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | Patient-History | History | [
"We report a 38 - year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties",
"chronic diarrhea, scoliosis and bilateral cataract surgery at age 25"
] |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | Neurology | Neuro | [
"progressive spastic paraparesis in her twenties.",
"the patient developed psychosis and an severe ataxospastic gait.",
"All patients presented pyramidal signs and 48 % had dorsal column signs",
"A 38 - year - old woman presented with progressive muscle stiffness, calf cramps and urinary frequency appeared in... |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | Laboratory-and-Imaging | Lab_Image | [
"Brain magnetic resonance imaging ( MRI ) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirmed the diagnosis of CTX.",
"Spinal MRI revealed new linear hyperintensities of the corticospinal and gracile tracts.",
"Brain MRI sh... |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | Cardiovascular-System | CVS | [] |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | Endocrinology | ENDO | [] |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | Genitourinary-System | GU | [
"urinary frequency"
] |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | Respiratory-System | RESP | [] |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | Musculoskeletal-System | MSK | [
"progressive muscle stiffness, calf cramps",
"scoliosis",
"did not found any tendinous xanthomas"
] |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | Eyes-Ears-Nose-Throat | EENT | [
"bilateral cataract"
] |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | Dermatology | DERM | [] |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | Pregnancy | Pregnancy | [] |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | Lymphatic-System | LYMPH | [] |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | Age-at-Presentation | Age (at case presentation) | [
"38 - year old"
] |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | Age-of-Onset | Age (of onset) | [
"her twenties",
"her twenties"
] |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"CYP27A1 gene sequencing confirmed the diagnosis of CTX .",
"confirmed CTX diagnosis ."
] |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | IEM-Treatment | IEM_Treatment | [
"Chenodeoxycholic acid ( CDCA ) treatment was introduced with remission of diarrhea",
"Disease improvement or stabilization with chenodeoxycholic acid was observed in 69 % of patients",
"A treatment with 750 mg / d chenodeoxycholic acid ( CDCA ) and 20 mg / d simvastatine was introduced"
] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | Vitals-and-Hematology | Vitals_Hema | [] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | Gastrointestinal-System | GI | [
"recurrent abdominal pain and vomiting",
"abdominal pain",
"multiple episodes of vomiting",
"no sign of perianal diseases",
"recurrent vomiting"
] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | Patient-History | History | [
"An 8 - year - old girl of non - consanguineous parents from southern China with history of recurrent abdominal pain and vomiting since 4 years of age presented to the gastroenterology department"
] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | Neurology | Neuro | [
"muscle weakness during attacks."
] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | Laboratory-and-Imaging | Lab_Image | [
"Inflammatory markers, including C - reactive protein and erythrocyte sedimentation rate were within normal limits. Other laboratory investigations showed a lactate of 2.9 mmol / L, pH of 7.311, serum free fatty acid of 2.161 mmol / L.",
"serum tandem mass spectrometry was performed, and showed C10 of 1.29 µM, C8... |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | Cardiovascular-System | CVS | [] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | Endocrinology | ENDO | [] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | Genitourinary-System | GU | [] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | Respiratory-System | RESP | [] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | Musculoskeletal-System | MSK | [] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | Eyes-Ears-Nose-Throat | EENT | [] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | Dermatology | DERM | [] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | Pregnancy | Pregnancy | [] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | Lymphatic-System | LYMPH | [] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | Age-at-Presentation | Age (at case presentation) | [
"8 - year - old"
] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | Age-of-Onset | Age (of onset) | [
"4 years of age"
] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"This patient was diagnosed with late - onset MADD"
] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | IEM-Treatment | IEM_Treatment | [
"treated with riboflavin with a dosage of 100 mg / day"
] |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | Vitals-and-Hematology | Vitals_Hema | [] |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | Gastrointestinal-System | GI | [] |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | Patient-History | History | [
"angioid streaks, atrophic retinal break of the right eye, angina pectoris, myocardial infarction, peripheral artery disease, coronary artery disease, vitreous degeneration, and bilateral posterior vitreous detachment"
] |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | Neurology | Neuro | [] |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | Laboratory-and-Imaging | Lab_Image | [
"OCT imaging of the lax axilla skin displayed large areas of hyporeflective, homogeneous areas of attenuation, or signal loss, in the mid dermis ( Fig 3 ). In contrast to normal skin, which attenuates the image at about 0.7 to 0.9 mm, the depth of the PXE image exhibits relative superficial attenuation of 50 % at 0... |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | Cardiovascular-System | CVS | [
"angina pectoris, myocardial infarction, peripheral artery disease, coronary artery disease"
] |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | Endocrinology | ENDO | [] |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | Genitourinary-System | GU | [] |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | Respiratory-System | RESP | [] |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | Musculoskeletal-System | MSK | [] |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | Eyes-Ears-Nose-Throat | EENT | [
"angioid streaks, atrophic retinal break of the right eye,",
"vitreous degeneration, and bilateral posterior vitreous detachment"
] |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | Dermatology | DERM | [
"yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin.",
"lax and redundant skin",
"OCT imaging of the lax axilla skin displayed large areas of hyporeflective, homogeneous areas of attenuation, or signal loss, in the mid dermis ( Fig ... |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | Pregnancy | Pregnancy | [] |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | Lymphatic-System | LYMPH | [] |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | Age-at-Presentation | Age (at case presentation) | [
"65 - year - old"
] |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | Age-of-Onset | Age (of onset) | [] |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"long - standing , biopsy - proven diagnosis of PXE"
] |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | IEM-Treatment | IEM_Treatment | [] |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | Vitals-and-Hematology | Vitals_Hema | [] |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | Gastrointestinal-System | GI | [
"irregular bowel movements",
"loose stools",
"early onset of frequent diarrhea"
] |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | Patient-History | History | [
"A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27",
"A woman in her 50s, who has 2 family members formally diagnosed with CTX, had loose stools from childhood. She ... |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | Neurology | Neuro | [
"cerebellar lesions",
"patient did not have neurologic deficits",
"Significant neurologic involvement developed in the patient, which progressively led to her becoming nonambulatory and wheelchair - bound",
"severe cognitive decline",
"magnetic resonance imaging of the brain showed a mild increased T2 signa... |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | Laboratory-and-Imaging | Lab_Image | [
"most recent imaging showed cerebellar lesions",
"magnetic resonance imaging of the brain showed a mild increased T2 signal within the dentate nucleus"
] |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | Cardiovascular-System | CVS | [
"no known cardiovascular involvement",
"no known cardiovascular disease",
"no known cardiovascular disease"
] |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | Endocrinology | ENDO | [] |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | Genitourinary-System | GU | [] |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | Respiratory-System | RESP | [] |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | Musculoskeletal-System | MSK | [
"tendon xanthomas on the fingers and toes, which required debulking, as well as plantar and Achilles xanthomas. She reported no new xanthomas and no changes in the existing xanthomas over 10 years",
"acquired xanthomas of the Achilles, knee, and elbow. Her existing xanthomas have remained stable, with no new xant... |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | Eyes-Ears-Nose-Throat | EENT | [
"cataracts",
"cataracts",
"visual impairment",
"cataracts"
] |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | Dermatology | DERM | [] |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | Pregnancy | Pregnancy | [] |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | Lymphatic-System | LYMPH | [] |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | Age-at-Presentation | Age (at case presentation) | [
"her 40s",
"in her 50s",
"her 30s"
] |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | Age-of-Onset | Age (of onset) | [
"early age",
"childhood",
"infancy"
] |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"diagnosed with CTX at age 27",
"CTX at 38 years , which was confirmed by genetic testing .",
"At the age of 14 years , she was formally diagnosed with CTX , which was confirmed by genetic testing ."
] |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | IEM-Treatment | IEM_Treatment | [
"prompt initiation of chenodiol therapy . She has been on chenodiol consistently since the diagnosis at age 27 .",
"She started chenodiol at the time of the diagnosis",
"Chenodiol ( chenodeoxycholic acid ) therapy was initiated at diagnosis , and she has remained on chenodiol since that time"
] |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | Vitals-and-Hematology | Vitals_Hema | [
"SPO 2 86 %",
"130 bpm",
"blood pressure 80/59 mmHg"
] |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | Gastrointestinal-System | GI | [
"abdominal pain",
"recurring abdominal pain and bloating ( almost once per month )",
"incomplete intestinal obstruction",
"abdominal pain spontaneously disappeared",
"abdominal pain and constipation returned"
] |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | Patient-History | History | [
"A 37 - year - old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital ( May 2019 ). Her symptoms had started 4 months previously ( January 2019 ). The initial symptoms included recurring abdominal pain and bloating ( almost once... |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | Neurology | Neuro | [
"muscle weakness, and a disorder of consciousness",
"patient ’s awareness gradually recovered",
"Muscle power of the limbs was 0/5 proximally and 2/5 distally. Furthermore, sensation and cranial nerve examinations were normal",
"Cranial computed tomography ( CT ) and abdominal CT did not indicate any abnormal... |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | Laboratory-and-Imaging | Lab_Image | [
"an abdominal flat plate X - ray showed incomplete intestinal obstruction",
"Urgent arterial blood gas analysis on ICU admission indicated severe hypoxemia and respiratory acidosis ( pH : 7.153, PO 2 : 66 mmHg, PCO 2 : 50.2 mmHg, and PO 2 /FiO 2 : 110 mmHg );",
"Cranial computed tomography ( CT ) and abdominal ... |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | Cardiovascular-System | CVS | [
"uncorrectable hypoxemia ( SPO 2 86 % ), tachycardia ( 130 bpm ), and hypotension ( blood pressure 80/59 mmHg )"
] |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | Endocrinology | ENDO | [] |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | Genitourinary-System | GU | [
"serum creatinine was elevated at 350.5 µmol / L ( normal range : 44–133 µmol / L ), and urea nitrogen was elevated at 22.23 mmol / L ( normal range : 2.9–7.5 mmol / L )",
"color of the patient ’s urine turned visibly reddish on exposure to sunlight",
"urine returned to a normal color"
] |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | Respiratory-System | RESP | [
"dyspnea,",
"uncorrectable hypoxemia ( SPO 2 86 % )",
"severe hypoxemia and respiratory acidosis",
"stubborn respiratory failure",
"patient was unable to be removed from the ventilator",
"chest CT showed patchy exudation of the lower lungs",
"diaphragm displacement during spontaneous breathing mode was ... |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | Musculoskeletal-System | MSK | [] |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | Eyes-Ears-Nose-Throat | EENT | [] |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | Dermatology | DERM | [] |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | Pregnancy | Pregnancy | [] |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | Lymphatic-System | LYMPH | [] |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | Age-at-Presentation | Age (at case presentation) | [
"37 - year - old"
] |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | Age-of-Onset | Age (of onset) | [] |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
". A diagnosis of AIP was finally confirmed by genetic analysis"
] |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | IEM-Treatment | IEM_Treatment | [
"Because heme arginate is not available in mainland China , the patient was treated with intravenous glucose infusion ( 50 % ) ."
] |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | Vitals-and-Hematology | Vitals_Hema | [
"Increased leukocyte count, neutrophil ratio",
"T ≤ 38.2 ° C )"
] |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | Gastrointestinal-System | GI | [
"eating difficulty",
"Chronic diarrhea was absent"
] |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | Patient-History | History | [
"A 47 - year - old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily life, but he... |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | Neurology | Neuro | [
"history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily life, but he was unable to do housework",
"psychiatric signs",
"Cerebr... |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | Laboratory-and-Imaging | Lab_Image | [
"There was a significant increase in the concentration of free fatty acid compared to normal range. Doppler ultrasound of the urinary system showed multiple left kidney stones, a right kidney cyst, and a hypoechoic area in the bladder, which could move with body position. Sagittal and axial magnetic resonance imagi... |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | Cardiovascular-System | CVS | [] |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | Endocrinology | ENDO | [] |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | Genitourinary-System | GU | [
"multiple left kidney stones, a right kidney cyst, and a hypoechoic area in the bladder, which could move with body position",
"Sediments in the bladder",
"history of renal calculus",
"Sediments in the bladder",
"Doppler ultrasound of the urinary system showed multiple left kidney stones, a right kidney cys... |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | Respiratory-System | RESP | [] |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | Musculoskeletal-System | MSK | [
"apparent enlargement of the right Achilles tendon and upper medial malleolus flexor tendon, abnormal thickening of the plantar fat, and a small amount of exudation around the fascia in front of the Achilles tendon",
"Enlarged Achilles tendons and nodules on the bilateral tibial tubercles were observed",
"enlar... |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | Eyes-Ears-Nose-Throat | EENT | [
"no evidence of cataract"
] |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | Dermatology | DERM | [
"dark skin",
"no evidence of cataract or xanthomas at other sites such as the eyelids"
] |
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