id stringlengths 9 17 | title stringlengths 12 274 | content list | display_content list | diagnosis list | genetics list | symptoms list | medication list | ethnicity list | biochemical list | neg_findings list |
|---|---|---|---|---|---|---|---|---|---|---|
gaucher:6540988 | Immune thrombocytopenia and Gaucher's disease. | [
"A 35-year-old Ashkenazi woman with Gaucher's disease was evaluated for persistent thrombocytopenia. The diagnosis of Gaucher's disease was made by bone marrow aspiration and confirmed by the determination of glucocerebrosidase levels in leukocytes and cultured skin fibroblasts. Studies of platelet-associated IgG a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 35-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease",
"concurrent immune thrombocytopenic purpura"
] | null | [
"complete and prolonged remission"
] | [
"Total splenectomy"
] | [
"Ashkenazi"
] | [
"persistent thrombocytopenia",
"Studies of platelet-associated IgG"
] | [
"trial of prednisone had no effect on the platelet count"
] |
gaucher:6504764 | Hydrops fetalis associated with Gaucher disease. | [
"The rare association of hydrops fetalis with acute neuropathic Gaucher disease, diagnosed at autopsy, is described. Mechanisms for the fetal edema in this case are discussed. Unusual medial calcification of the aorta was present; and although its etiology is unknown, a possible relationship to Gaucher disease is s... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The rare association of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hydrops fetalis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"hydrops fetalis",
"acute neuropathic Gaucher disease",
"Gaucher disease"
] | null | [
"fetal edema",
"Unusual medial calcification of the aorta"
] | null | null | null | null |
gaucher:6474303 | Gaucher's disease in a black child in South Africa. A case report. | [
"A 7-year-old Black boy presented with massive splenomegaly and a tendency to haemorrhage due to type 1 Gaucher's disease. After splenectomy he became asymptomatic and the haematological parameters returned to normal. Although type 1 Gaucher's disease has been described in adult Blacks, it has not been reported pre... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 7-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"type 1 Gaucher's disease",
"type 1 Gaucher's disease"
] | null | [
"massive splenomegaly",
"tendency to haemorrhage"
] | [
"splenectomy"
] | [
"Black",
"Blacks",
"southern Africa"
] | [
"the haematological parameters returned to normal"
] | [
"asymptomatic"
] |
gaucher:6609761 | Gaucher's disease and chronic lymphocytic leukemia. Possible pathogenetic link between Gaucher's disease and B-cell proliferations? | [
"The authors report a case of Gaucher's disease with chronic lymphocytic leukemia. The diagnosis of Gaucher's disease was confirmed by electron microscopy and glucocerebrosidase assay. There may be a pathogenetic link between Gaucher's disease and B-cell proliferation."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Gaucher's disease",
"chronic lymphocytic leukemia",
"Gaucher's disease",
"Gaucher's disease"
] | null | null | null | null | null | null |
gaucher:6377066 | Bone-marrow transplantation in severe Gaucher's disease. | [
"We performed allogeneic bone-marrow transplantation of normal cells in an eight-year-old patient with Type 3 Gaucher's disease in an attempt to alter his progressive deterioration. The procedure resulted in complete engraftment of the enzymatically normal donor cells. Donor monocyte precursors were present in the ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We performed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n allogeneic bone-marrow transplantation of normal cells\n <span style=\"font-size: 0.8em; font... | [
"Type 3 Gaucher's disease",
"Gaucher's disease"
] | null | [
"progressive deterioration",
"died from an episode of sepsis"
] | [
"allogeneic bone-marrow transplantation of normal cells",
"transplantation",
"post-transplantation",
"bone-marrow transplantation"
] | null | [
"Post-",
"beta-glucocerebrosidase activity in mononuclear white cells in peripheral blood exceeded normal levels",
"The plasma glucocerebroside concentration ultimately returned to normal",
"normalization of plasma levels of glucocerebroside"
] | [
"no change in Gaucher's-cell infiltration of the bone marrow was noted for at least 111 days",
"no important change in his clinical status",
"lack of clinical improvement"
] |
gaucher:6701766 | Spinal cord compression secondary to Gaucher's disease. | [
"A case of compression of the spinal cord and cauda equina secondary to collapse of the T-12 and L-3 vertebral bodies in a patient with type 1 Gaucher's disease is presented. Decompressive laminectomies were done at both the T-12 and L-3 levels with moderate improvement of the patient's neurologic findings. Histolo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n compression of the spinal cord and cauda equina\n <span style=\"font-size: 0.8em; font-weight: b... | [
"type 1 Gaucher's disease"
] | null | [
"compression of the spinal cord and cauda equina",
"collapse of the T-12 and L-3 vertebral bodies",
"moderate improvement of the patient's neurologic findings"
] | [
"Decompressive laminectomies were done at both the T-12 and L-3 levels"
] | null | null | null |
gaucher:6538314 | Correlating auditory evoked and brainstem histologic abnormalities in infantile Gaucher's disease. | [
"In an infant with Gaucher's disease, brainstem auditory evoked responses were abnormal on three separate occasions. Only waves I and II were typically present at standard intensity settings, although a third peak was elicited at 88 dB. Histologic studies demonstrated absence of neurons in the cochlear nuclei and a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Gaucher's disease"
] | null | [
"brainstem auditory evoked responses were abnormal",
"waves I and II",
"absence of neurons in the cochlear nuclei",
"hypoplastic superior olivary complex"
] | null | null | null | null |
gaucher:6420531 | Congenital ascites as a presenting sign of lysosomal storage disease. | [
"Neonatal ascites is usually attributed to hematologic, genitourinary, gastrointestinal tract, or congenital heart disease. When these lesions have been excluded, metabolic storage disorders should be considered in the differential diagnosis. We report eight cases of neonatal ascites associated with different types... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Neonatal ascites\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"hematologic",
"genitourinary, gastrointestinal tract",
"congenital heart disease",
"metabolic storage disorders",
"ascites",
"lysosomal storage disease",
"infantile sialidosis",
"Salla disease",
"GM1 gangliosidosis",
"Gaucher disease",
"ascites"
] | null | [
"Neonatal ascites",
"persistent fetal ascites"
] | null | null | [
"excretion in the fetal urine of abnormal catabolic products",
"measurement of decreased activity of specific lysosomal hydrolases in cultured amniocytes"
] | null |
gaucher:6739289 | Gaucher's disease: unexpected diagnosis in three patients over seventy years old. | [
"Gaucher's disease is usually diagnosed in the first or second decade of life with the appearance of bone pains, splenomegaly and hemorrhagic manifestations due to thrombocytopenia. When the hematological parameters are preserved and the enlarged spleen not evident until late in life, patients are rarely identified... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"bone pains",
"splenomegaly",
"hemorrhagic manifestations",
"enlarged spleen not evident"
] | null | null | [
"thrombocytopenia",
"hematological parameters are preserved"
] | null |
gaucher:6530316 | An adult form of Gaucher's disease with a huge tumour formation of the right tibia. | [
"A case of adult, chronic or non-neuropathic, Gaucher's disease is presented. Severe bony changes, particularly involving the lower limbs developed after a splenectomy had been carried out. Our patient had all the orthopaedic complications of Gaucher's disease. Further, a huge tumour was present in the right tibia ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n adult\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"chronic or non-neuropathic, Gaucher's disease",
"Gaucher's disease",
"pseudotumour",
"Gaucher's disease"
] | null | [
"Severe bony changes, particularly involving the lower limbs",
"orthopaedic complications",
"huge tumour was present in the right tibia",
"orthopaedic complications"
] | [
"splenectomy",
"able to use a wheelchair",
"leg was amputated"
] | null | null | [
"bedridden"
] |
gaucher:6494933 | Femoral neck fractures complicating Gaucher disease in children. | [
"In normal children, fractures of the femoral neck are uncommon and accompany severe trauma and multiple injuries elsewhere in the skeleton [16, 17]. In children with Gaucher disease, a rare hereditary disorder of lipid metabolism, midcervical or basicervical fractures can occur with minor or no trauma and without ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n normal children\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Gaucher disease",
"Gaucher disease"
] | [
"rare hereditary disorder of lipid metabolism"
] | [
"fractures of the femoral neck",
"severe trauma",
"multiple injuries elsewhere in the skeleton",
"midcervical or basicervical fractures",
"pathologic fractures of the femoral neck",
"the fracture lines passed through areas of abnormal bone characterized by poorly defined patches of increased and decreased... | null | null | null | [
"minor or no trauma",
"without other injury to the skeleton",
"no evidence of avascular necrosis of the femoral heads at the time of injury"
] |
gaucher:6437419 | Leukocyte beta-glucosidase in a child with Gaucher's disease and his kinship. | [
"Beta-glucosidase was determined in leukocyte homogenates of a male child with Gaucher's disease and members of his family. An important difference in enzyme activity was found in the heterozygous gene carriers; in one obligate heterozygote, the mother, a high residual enzyme capacity was detected. Various methods ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Beta-glucosidase was determined in leukocyte homogenates\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"Gaucher's disease"
] | [
"heterozygous gene carriers",
"obligate heterozygote"
] | null | null | null | [
"Beta-glucosidase was determined in leukocyte homogenates",
"difference in enzyme activity",
"high residual enzyme capacity"
] | null |
gaucher:6414044 | Neonatal ascites due to lysosomal storage disease. | [
"The clinical and radiographic features of four newborns with lysosomal storage disease (LSD) in whom the dominant presenting clinical feature was ascites are presented. The diseases included infantile Gaucher disease, GM I gangliosidosis, infantile sialidosis, and Salla disease. Abdominal distention due to ascites... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The clinical and radiographic features of four \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n newborns\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"lysosomal storage disease (LSD)",
"infantile Gaucher disease",
"GM I gangliosidosis",
"infantile sialidosis",
"Salla disease",
"Gaucher disease",
"sialidosis",
"Salla disease",
"LSD",
"ascites"
] | null | [
"ascites",
"Abdominal distention",
"ascites",
"hepatosplenomegaly",
"hypoplastic lungs",
"the ribs and long bones were markedly thinned",
"Varying degrees of coarsening of the trabecular pattern of the bones and thinning of the cortex",
"lack of modeling",
"Metaphyseal irregularity",
"skeletal rad... | null | null | null | null |
gaucher:6625792 | Unusual pericardial calcification in Gaucher's disease. | [
"Gaucher's disease is a hereditary metabolic disorder characterized by the abnormal accumulation of glucocerebrosides in reticuloendothelial cells. A 58-year-old man had Gaucher's disease and suffered from hypersplenism, cirrhosis of the liver, and free-floating calcifications in the pericardial space. The literatu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease"
] | [
"hereditary metabolic disorder"
] | [
"free-floating calcifications in the pericardial space",
"pericardial involvement"
] | null | null | [
"hypersplenism"
] | null |
gaucher:6623230 | Gaucher's disease in the black population of South Africa. A case report. | [
"The diagnosis of the non-neuropathic form of Gaucher's disease was confirmed by haematological and enzymatic investigations in a Black girl. The aetiological relationship of this condition with Gaucher's disease in other populations is uncertain, but lack of expression of the enzyme defect in the white blood cells... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The diagnosis of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n non-neuropathic form of Gaucher's disease\n <span style=\"font-size: 0.8em; font-weig... | [
"non-neuropathic form of Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"unexplained splenomegaly"
] | null | [
"Black"
] | [
"lack of expression of the enzyme defect in the white blood cells"
] | null |
gaucher:6645266 | [Eye changes in Gaucher's disease]. | [
"In a patient with Gaucher's disease multiple, chalky-white, randomly distributed, circular spots were observed in the superficial layers of the retina or directly on the vessel walls. There are indications that these changes of the retina, which have also been described by other authors, are characteristic of the ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Gaucher's disease",
"juvenile form of Gaucher's disease"
] | null | [
"multiple, chalky-white, randomly distributed, circular spots were observed in the superficial layers of the retina or directly on the vessel walls",
"changes of the retina",
"these spots",
"defective healing of minute hemorrhages which were initially still visible as red and white concentric target lesions i... | null | null | null | [
"The macula was not cherry-red"
] |
gaucher:6683823 | Non-infantile neuronopathic Gaucher's disease: a clinicopathologic study. | [
"Two siblings with Gaucher's disease developed a chronic, slowly progressive neurologic disorder in early adult life. Stimulus-sensitive myoclonus, generalized seizures, supranuclear gaze palsies, and cerebellar ataxia were the main clinical features. Autopsy disclosed perivascular Gaucher cells in the brain, and n... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n siblings\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"chronic, slowly progressive neurologic disorder",
"Stimulus-sensitive myoclonus",
"generalized seizures",
"supranuclear gaze palsies",
"cerebellar ataxia",
"neurologic syndromes",
"neuropathologic changes"
] | null | null | null | null |
gaucher:6307855 | Gaucher-like cells in a granular cell tumor. | [
"The macrophages in connective tissue stroma and the tumor cells of granular cell tumors have many histochemical features similar to those of Gaucher cells. Ultrastructural examination of a granular cell tumor revealed the stromal cells to contain inclusions of various sizes and shapes. These inclusions, which cont... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n The macrophages in connective tissue stroma and the tumor cells of granular cell tumors\n <span style=\"fo... | [
"granular cell tumor",
"lobomycosis"
] | null | null | null | null | null | null |
gaucher:6821841 | Association of dysgerminoma and gaucher's disease. | [
"A 22-year-old woman presented with splenomegaly and pancytopenia of over two years' duration. A splenectomy was performed because of a suspicion of Gaucher's disease. At the time of operation a left ovarian tumor was found and was removed. A diagnosis of Gaucher's disease was made on the basis of massive infiltrat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 22-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher's disease",
"Gaucher's disease",
"dysgerminoma",
"association of Gaucher's disease",
"malignant tumors"
] | null | [
"splenomegaly",
"left ovarian tumor"
] | [
"splenectomy"
] | null | [
"pancytopenia of over two years' duration"
] | null |
gaucher:7155305 | Auditory brainstem response (ABR) in infantile Gaucher's disease. | [
"The auditory brainstem response (ABR) was studied in an infant with Gaucher's disease. The infant was normal until the age of three months. His illness began with stridor, strabismus, inguinal hernia and failure to thrive. Thereafter, muscular rigidity with opisthotonus, ocular palsies, difficulty in swallowing an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n auditory brainstem response (ABR)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Gaucher's disease"
] | null | [
"stridor",
"strabismus",
"inguinal hernia",
"failure to thrive",
"muscular rigidity",
"opisthotonus",
"ocular palsies",
"difficulty in swallowing",
"respiratory failure due to central origin",
"died",
"respiratory failure due to central origin developed",
"died",
"respiratory failure",
"AB... | null | null | null | null |
gaucher:7114083 | Acquired Gaucher's cells in Hodgkin's disease. | [
"A patient with Hodgkin's disease associated with low glucocerebrosidase levels in the peripheral leukocytes, and Gaucher's cells in the bone marrow and lymph nodes, is described. After MOPP therapy, complete remission of Hodgkin's disease was accompanied by normalization of the glucocerebrosidase level and disappe... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hodgkin's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Hodgkin's disease",
"combined Hodgkin's and Gaucher's disease",
"Hodgkin's disease",
"combination of Hodgkin's disease and Gaucher's disease"
] | null | null | [
"MOPP therapy",
"complete remission of Hodgkin's disease"
] | null | [
"low glucocerebrosidase levels in the peripheral leukocytes",
"normalization of the glucocerebrosidase level"
] | [
"after chemotherapy"
] |
gaucher:6806721 | [Gaucher's disease: hemorrhagic diathesis and term pregnancy with the birth of a malformed fetus]. | [
"A patient suffering from Gaucher's disease observed for the first time five years age while in pregnancy and observed again during a second pregnancy ended with the delivery of a malformed female infant is presented. Laboratory findings of this case and their correlation with the clinical manifestations of this di... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient suffering from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Gaucher's disease",
"pregnancy"
] | null | [
"malformed female infant",
"foetal malformations"
] | null | null | null | null |
gaucher:7083678 | Histologic and histochemical investigation of Gaucher cells. | [
"Electron microscopic investigations suggest that morphologically, Gaucher cells and histiocytes are very similar. The fact that there are tubular elements in the lysosomes strongly suggests the possibility of lysosomes as the precursors of Gaucher bodies. By means of the lectin staining methods, the localization o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Electron microscopic investigations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Gaucher's and Krabbe's diseases"
] | null | null | null | null | null | null |
gaucher:7170198 | [Neonatal hepatitis in a case of Gaucher's disease in its acute infantile form]. | [
"There is described a case of Gaucher's disease in its acute infantile form, interesting for the initial symptomatology marked by a hepatitic similarity, which has got manifest, already during the first days of life. A splenic and hepatic biopsy made at the age of about six months showed clearly the presence of cel... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">There is described a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Gaucher's disease",
"acute infantile form"
] | null | [
"hepatitic similarity",
"died",
"apnoic crisis"
] | null | null | null | null |
gaucher:6951408 | Coexistence of Gaucher Disease and Philadelphia positive chronic granulocytic leukemia. | [
"A patient with coexistent Gaucher disease and Philadelphia positive chronic granulocytic leukemia (CGL), who subsequently developed myeloblastic leukemia, is described. The diagnosis of CGL was established according to standard clinical, morphological, biochemical, and cytogenetic data, while the diagnosis of true... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n coexistent Gaucher disease and Philadelphia positive chronic granulocytic leukemia (CGL)\n ... | [
"coexistent Gaucher disease and Philadelphia positive chronic granulocytic leukemia (CGL)",
"myeloblastic leukemia",
"CGL",
"true Gaucher disease",
"CGL"
] | null | null | null | null | [
"low activity of ceramide-beta-glucosidase in the patient's peripheral blood leukocytes, skin fibroblasts, and splenic tissue"
] | null |
gaucher:6275038 | Gaucher's disease and glioblastoma multiforme in two siblings: a clinicopathologic study. | [
"The clinical and pathologic features of two brothers with the adult form of Gaucher's disease, both of whom developed cerebral glioblastoma multiforme, are presented. Neither patient had a long-standing neurologic disorder, and morphologic evidence of nervous system glucocerebroside storage was not seen. Despite t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The clinical and pathologic features of two \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n brothers\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"adult form of Gaucher's disease",
"cerebral glioblastoma multiforme",
"malignancy",
"Gaucher's disease",
"glioma"
] | null | null | null | null | null | [
"long-standing neurologic disorder",
"morphologic evidence of nervous system glucocerebroside storage was not seen"
] |
gaucher:7295130 | Ocular motor signs in some metabolic diseases. | [
"Ocular motor disturbances are described with a miscellany of metabolic disturbances. Horizontal gaze abnormalities, often simulating congenital ocular motor apraxia, characterized Gaucher's disease. Vertical gaze abnormalities, especially downgaze paralysis, characterized what is generally considered a variant of ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Ocular motor disturbances\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Gaucher's disease",
"Niemann-Pick disease",
"sea-blue histiocytosis",
"DAF\" syndrome",
"abetalipoproteinemia",
"methylmalonohomocystinuria",
"variation of olivopontocerebellar degeneration",
"ataxia telangiectasia"
] | null | [
"Ocular motor disturbances",
"metabolic disturbances",
"Horizontal gaze abnormalities",
"congenital ocular motor apraxia",
"Vertical gaze abnormalities",
"downgaze paralysis",
"internuclear ophthalmoplegia",
"nystagmus of the adducting eye",
"epileptiform eyelid and eye movements",
"Ocular motor a... | null | null | null | null |
gaucher:7273578 | Pyogenic osteomyelitis versus pseudo-osteomyelitis in Gaucher's disease. Report of a case and review of the literature. | [
"Presented is a young girl with Gaucher's disease who developed acute bone pain accompanied by signs of inflammation and who was felt to have possible pyogenic osteomyelitis. The lack of significant pathogenic bacterial growth on culture and the findings at orthopedic surgery led the authors to conclude that this c... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Presented is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n young\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher's disease",
"pyogenic osteomyelitis",
"pseudo-osteomyelitis",
"chronic osteomyelitis",
"Gaucher's disease",
"pyogenic osteomyelitis",
"Gaucher's disease"
] | null | [
"acute bone pain",
"signs of inflammation",
"anaerobic growth on culture",
"chronic inflammatory changes"
] | [
"open surgical procedure",
"treated with antibiotics",
"orthopedic surgical procedures",
"open surgical procedure",
"empiric antibiotic therapy",
"orthopedic surgical procedure",
"antibiotic coverage"
] | null | null | [
"lack of significant pathogenic bacterial growth on culture",
"although strongly felt to be a contaminant",
"without an attempt at further diagnosis"
] |
gaucher:7282998 | Pseudo-Gaucher cell in IgMk plasmacytoid lymphoma. | [
"Cells resembling those of Gaucher's disease were found on imprints of a lymph node from a patient with a plasmacytoid lymphoma. These cells contained nonspecific esterase, and electron-dense crystal-like structures. Associated plasma cells stained positively with anti-kappa and anti-mu sera but few macrophages wer... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cells resembling those of Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | null | null | null | null | null | null | [
"few macrophages were stained"
] |
gaucher:7301691 | Renal involvement in Gaucher's disease. | [
"A patient with chronic Gaucher's disease is described who developed glomerulopathy 24 years after splenectomy terminating in renal failure. The pathological changes of this very rare complication of Gaucher's disease are described. The few similar cases reported in the literature are reviewed and the possible path... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n chronic Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"chronic Gaucher's disease",
"glomerulopathy",
"Gaucher's disease"
] | null | [
"renal failure"
] | [
"splenectomy"
] | null | null | null |
gaucher:6266977 | Electron microscopic studies in lipid storage disease. | [
"Biopsy and autopsy specimens from patients with Gaucher's disease and Niemann-Pick disease were studied ultrastructurally. The morphological features were compared with those obtained from paraffin-embedded tissues after reprocessing the tissue for electron microscopy. With routine glutaraldehyde-osmium fixation, ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Biopsy and autopsy specimens\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Gaucher's disease",
"Niemann-Pick disease",
"Gaucher's disease",
"Niemann-Pick disease"
] | null | null | null | null | null | null |
gaucher:7294954 | [Portal hypertension complicating Gaucher's disease (author's transl)]. | [
"On the occasion of a case of Gaucher's disease associated with portal hypertension and after reviewing similar cases in the literature, the following conclusions can be proposed: portal hypertension is a very rare complication of Gaucher's disease. An intrahepatic block or, more rarely, a constrictive pericarditis... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">On the occasion of a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease associated with portal hypertension\n <span style=\"font-si... | [
"Gaucher's disease associated with portal hypertension",
"Gaucher's disease",
"constrictive pericarditis",
"Gaucher's disease"
] | null | [
"portal hypertension",
"intrahepatic block",
"postoperative portal thrombosis",
"portal hypertension"
] | [
"Splenectomy",
"portacaval shunting"
] | null | [
"severe hypersplenism"
] | null |
gaucher:7217126 | Total hip replacement in Gaucher's disease. | [
"We performed seven total hip replacements in six patients with the adult form of Gaucher's disease. Excessive perioperative hemorrhage was a common complication, and three patients have required revision of loosened components. Two of these were young patients with a more severe form of the disease. Total hip repl... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We performed seven \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n total hip replacements\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"adult form of Gaucher's disease",
"Gaucher's disease",
"osteonecrosis"
] | null | [
"Excessive perioperative hemorrhage"
] | [
"total hip replacements",
"revision of loosened components",
"Total hip replacement",
"failed prior hip surgery"
] | null | null | null |
gaucher:6779779 | Gaucher's disease. I. Modern enzymatic and anatomic methods of diagnosis. | [
"The physician who diagnoses Gaucher's disease should take advantage of the noninvasive method that analyzes WBCs for residual beta-glucocerebrosidase and beta-glucosidase activities. When this method is carried out in conjunction with the measurement of serum acid phosphatase levels, a bone marrow examination may ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The physician who diagnoses \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"mild splenomegaly",
"abdominal pain"
] | null | null | [
"analyzes WBCs",
"residual beta-glucocerebrosidase and beta-glucosidase activities"
] | null |
gaucher:7447774 | Fundal abnormalities of Gaucher's disease. | [
"The evidence for cherry-red maculas in Gaucher's disease is questionable, but in occasional patients, scattered white spots in and on the retina appear to be characteristic. These white spots consist of clusters of swollen histiocytes (Gaucher cells)."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The evidence for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cherry-red maculas\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Gaucher's disease"
] | null | [
"cherry-red maculas",
"scattered white spots in and on the retina"
] | null | null | null | null |
gaucher:6256275 | Niemann-Pick disease, Type C: evidence for the deficiency of an activating factor stimulating sphingomyelin and glucocerebroside degradation. | [
"1) Qualitative lipid analyses by thin-layer chromatography of 4 Niemann-Pick type C spleens confirmed sphingomyelin accumulation together with increase in the amount of glucocerebroside. 2) In the presence of crude sodium taurocholate as detergent, sphingomyelin degradation rates of normal and Niemann-Pick type C-... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">1) \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Qualitative lipid analyses by thin-layer chromatography\n <span style=\"font-size: 0.8em; font-weight: ... | [
"Niemann-Pick disease type C"
] | null | null | [
"crude sodium taurocholate"
] | null | [
"sphingomyelin degradation",
"sphingomyelinase activity",
"Sphingomyelinase activities",
"30% of that",
"stimulated sphingomyelin as well as glucocerebroside degradation",
"sphingomyelinase activity of Niemann-Pick type C fibroblasts",
"25--38-fold"
] | [
"sodium taurocholate",
"without detergent",
"devoid of sphingomyelinase activity",
"Niemann-Pick type C spleen showed no stimulation of sphingomyelin catabolism",
"stimulating effect could not be observed in fibroblasts from patients suffering from Niemann-Pick type B (sphingomyelinase defect)",
"absent f... |
gaucher:7429802 | Partial splenectomy in Gaucher's disease. | [
"An 11-year-old boy with Gaucher's disease is described. He had giant splenomegaly with severe signs of hypersplenism. A partial splenectomy was performed. On an isotope scan at follow-up, the remaining spleen was functioning well. Normal levels of IgM were recorded and there were no signs of hypersplenism."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 11-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Gaucher's disease"
] | null | [
"giant splenomegaly",
"severe signs of hypersplenism",
"the remaining spleen was functioning well"
] | [
"partial splenectomy"
] | null | null | [
"Normal levels of IgM were recorded",
"no signs of hypersplenism"
] |
gaucher:7396622 | Coexistence of IgA myeloma and Gaucher's disease. | [
"An elderly woman of Ashkenazic Jewish descent, who had had adult Gaucher's disease diagnosed seven years previously, was found to have IgA myeloma. The diagnosis of IgA myeloma was confirmed by the presence of lytic lesions in the skull and long bones, atypical plasma cells in bone marrow, and monoclonal elevation... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n elderly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"adult Gaucher's disease",
"IgA myeloma",
"IgA myeloma"
] | null | [
"lytic lesions in the skull and long bones"
] | null | [
"Ashkenazic Jewish descent"
] | [
"monoclonal elevation of IgA, kappa-type"
] | null |
gaucher:7369236 | Gaucher's disease associated with Hodgkin's disease. | [
"A patient with chronic adult-onset Gaucher's disease is described. The diagnosis was based on the finding of typical Gaucher cells in the spleen, liver and bone marrow associated with deficiency of glucocerebrosidase. The patient also had Hodgkin's disease, nodular sclerosis type, stage III. The patient is alive a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n chronic adult-onset Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"chronic adult-onset Gaucher's disease",
"Hodgkin's disease, nodular sclerosis type, stage III",
"Gaucher's disease concurrent with Hodgkin's disease"
] | null | null | [
"combination of chemotherapeutic regimens"
] | null | [
"deficiency of glucocerebrosidase"
] | null |
gaucher:6282083 | Gaucher's disease: a clinical, morphological and biochemical study of a Nigerian family. | [
"Two Nigerian sibling presented with progressive hepato-splenomegaly in infancy from which they subsequently died. Morphological investigations carried out showed that the children had Gaucher's disease. Leucocyte B-glucocerebrosidase activities from the parents of the two siblings and also from one surviving sibli... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Nigerian\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Gaucher's disease",
"Gaucher's disease",
"biochemical abnormality"
] | null | [
"progressive hepato-splenomegaly",
"died"
] | null | [
"Nigerian",
"African children",
"Kenya",
"Uganda",
"Congo",
"Nigeria",
"Black Americans",
"Negroid race"
] | [
"Leucocyte B-glucocerebrosidase activities from the parents of the two siblings and also from one surviving sibling were found to be only about 50% of the enzyme activities in control subjects"
] | [
"hexosaminidase and B-glucuronidase activities were within normal limits"
] |
gaucher:6766716 | Neurologic complications of Gaucher's disease, type 3. | [
"We discuss the clinical features of two patients with type 3 Gaucher's disease. Glucocerebroside levels in liver biopsy specimens were measured in both patients and the findings are discussed in regard to the pathogenesis of the disease."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We discuss the clinical features of two patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 3 Gaucher's disease\n <span style=\"font-size: ... | [
"type 3 Gaucher's disease"
] | null | null | null | null | [
"Glucocerebroside levels in liver biopsy specimens"
] | null |
gaucher:7425777 | Neuropathic type of Gaucher's disease in a Mexican boy. Electron microscopy studies and considerations on the current concept of this disease. | [
"Case report of a 32 month old boy with Gaucher's disease. He had an evolution of 22 months with neurological symptoms. The spleen was removed and was studied with light and electron microscopy. The study disclosed the typical morphological features of Gaucher's cells. A correlation was established between symptoma... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Case report of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 32 month old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Gaucher's disease"
] | null | [
"neurological symptoms",
"anatomic alterations"
] | null | null | null | null |
gaucher:7355669 | Central nervous system involvement in adult-onset Gaucher's disease. | [
"Neuropathological findings are reported in an adult with Gaucher's disease. In this patient, Gaucher cells with characteristic storage material were found throughout the brain and also in the leptomeninges. They were confined to the perivascular space of small blood vessels and were commonly associated with intens... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Neuropathological findings\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Gaucher's disease"
] | null | [
"Neuropathological findings",
"neuropathological changes"
] | null | null | [
"Glucosylceramidase activities were severely deficient in both brain and liver"
] | [
"Neuronal storage was not seen"
] |
gaucher:518109 | Non-neuropathic Gaucher disease presenting in infancy. | [
"The non-neuropathic form of Gaucher's disease was diagnosed in 11 children of non-Jewish ancestry in South Africa; all were under the age of 4. None had any neurological involvement and, apart from the precocious presentation and rapid course, the features in each resembled those of the classical 'adult' or chroni... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n non-neuropathic form of Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"non-neuropathic form of Gaucher's disease",
"'adult' or chronic non-neuropathic form of Gaucher disease",
"infantile neuropathic form of Gaucher disease",
"atypical non-neuropathic form of the disorder"
] | null | [
"precocious presentation",
"hepatosplenomegaly"
] | null | [
"non-Jewish ancestry",
"South Africa",
"Ashkenazi Jews"
] | [
"Activity of beta-glucosidase was defective"
] | [
"None had any neurological involvement",
"could not be distinguished by histological criteria"
] |
gaucher:472853 | Infantile Gaucher's disease. | [
"This case report calls attention to the fact that infantile Gaucher's disease can occur in black infants. The infant's age, neurologic manifestations, and pathologic findings support the diagnosis."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This case report calls attention to the fact that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infantile Gaucher's disease\n <span style=\"font-size: 0... | [
"infantile Gaucher's disease"
] | null | [
"neurologic manifestations",
"pathologic findings"
] | null | null | null | null |
gaucher:582376 | Renal involvement in adult Gaucher's disease after splenectomy. | [
"Gaucher's disease with severe clinical and pathologic renal involvement is exceptionally rare. This article describes severe renal involvement and proteinuria in a young black woman with Gaucher's disease. The accumulation of glucocerebroside (Gaucher bodies) in glomerular mesangial and endothelial cells and in in... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"severe clinical and pathologic renal involvement",
"severe renal involvement"
] | null | [
"black"
] | [
"proteinuria",
"deficiency of glucocerebroside-cleaving enzyme in these cells",
"Severe proteinuria"
] | null |
gaucher:380339 | Pseudo-Gaucher cells in multiple myeloma. | [
"A bone biopsy specimen from a patient with multiple myeloma showed numerous Gaucher-like cells scattered throughout a homogeneous background of plasma cells. Further studies using histochemical stains, immunofluorescence, and light and electron microscopy were carried out to further define these cells. Light micro... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone biopsy specimen\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"multiple myeloma"
] | null | [
"microscopic and histochemical characteristics of true Gaucher cells"
] | null | null | [
"Strong immunofluorescence",
"polyvalent kappa and gamma antiserums"
] | [
"resistant to diastase digestion",
"not with anti-albumin or serums with anti-lambda, mu or alpha specificity"
] |
gaucher:291121 | Acute leukaemia and Gaucher's disease. | [
"As association between Gaucher's disease and haematopoietic neoplasias has been reported in only a few instances. The authors recently encountered 2 cases of adult Gaucher's disease that developed acute myelogenous/myelomonocytic leukaemia. Both individuals had a pre-leukaemic phase. These cases are reported."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">As \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n association between Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"association between Gaucher's disease",
"haematopoietic neoplasias",
"Gaucher's disease",
"acute myelogenous/myelomonocytic leukaemia"
] | null | null | null | null | [
"pre-leukaemic phase"
] | null |
gaucher:573884 | [Ankylosing spondylitis in monozygous twins. Study of HLA complex (author's transl)]. | [
"A study of HLA complex (HLA A, B, C, DRw, Bf, chiddo) in monozygous twins suffering from ankylosing spondylitis with different clinical courses. All the markers studied were identified. The results would tend to suggest that hereditary factors are not alone responsible in the course of ankylosing spondylitis. Furt... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A study of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n HLA complex (HLA A, B, C, DRw, Bf, chiddo)\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"ankylosing spondylitis",
"ankylosing spondylitis"
] | [
"HLA complex (HLA A, B, C, DRw, Bf, chiddo)",
"hereditary factors"
] | null | null | null | null | null |
gaucher:382486 | Attempt at enzyme replacement by organ transplantation: renal transplantation in Gaucher disease. | [
"Following renal transplantation, hepatic glucocerebroside deposits in a child with Gaucher disease were reduced. This suggests that enzyme replacement had been achieved."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Following \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n renal transplantation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | null | null | null | [
"renal transplantation",
"enzyme replacement"
] | null | null | null |
gaucher:441320 | Exaggerated anterior vertebral notching. | [
"Three children with marrow-packing disorders demonstrated exaggerated anterior vertebral notches with poorly defined cortical margins. One child had thalassemia major, another had Gaucher disease, and a third had metastatic neuroblastoma. A discussion of each case and the etiology of the notches is presented."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n children\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"marrow-packing disorders",
"thalassemia major",
"Gaucher disease",
"metastatic neuroblastoma"
] | null | [
"exaggerated anterior vertebral notches with poorly defined cortical margins",
"notches"
] | null | null | null | null |
gaucher:459598 | [Roentgenologic characteristics of Gaucher's disease (author's transl)]. | [
"Gaucher's disease is a rare metabolic disorder in which there is an abnormal accumulation of cerebrosides in the reticuloendothelial system due to a deficit of beta-glucuronidase. Three patients with this disease, 8, 14, and 23 years old, were studied. The purpose of this paper is to point out some of the roentgen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"rare metabolic disorder"
] | null | [
"areas of femoral osteolysis",
"renal venous thrombosis",
"sclerosis of the sacroiliac joint",
"Splenomegaly",
"alteration of the tubular bony structure of the distal end of the femur",
"osteoarticular system",
"Osteolysis",
"expansion of the bone marrow and sclerosis",
"Erlenmeyer flask deformity o... | null | null | [
"deficit of beta-glucuronidase"
] | [
"without definite osteolytic lesions"
] |
gaucher:420629 | Familial psychosis and diverse neurologic abnormalities in adult-onset Gaucher's disease. | [
"A family is described in which adult-onset Gaucher's disease developed, followed years later by atypical psychotic disorders with neurologic and electroencephalographic abnormalities. A biochemical investigation of primary and secondary enzyme alterations in the index case was performed in an attempt to identify a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A family is described in which \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n adult-onset Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight... | [
"adult-onset Gaucher's disease",
"Gaucher's disease"
] | [
"inherited metabolic disorder"
] | [
"atypical psychotic disorders",
"neurologic and electroencephalographic abnormalities",
"CNS involvement",
"neuropsychiatric impairment"
] | null | null | null | null |
gaucher:107577 | Nonsecretory IgD-kappa multiple myeloma in a patient with Gaucher's disease. | [
"A patient with Gaucher's disease and non-secretory multiple myeloma is described. The presence of typical Gaucher and myeloma cells was confirmed by transmission and scanning electron microscopy. The immunological studies established the diagnosis of 'non-secretory' type of multiple myeloma."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Gaucher's disease",
"non-secretory multiple myeloma"
] | null | null | null | null | null | null |
gaucher:731321 | Radionuclide assessment of Gaucher's disease. | [
"Gaucher's disease involves multiple organs and may present with variable severity. The scintigraphic appearance of the reticuloendothelial system and bone are described in three patient's with Gaucher's disease. Scintigraphic abnormalities reflected the severity of organ involvement and correlated well with the pa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"multiple organs",
"Scintigraphic abnormalities",
"organ involvement"
] | null | null | null | null |
gaucher:717933 | Primary amyloidosis associated with Gaucher's disease. | [
"Elevations in serum immunoglobulins, frequently monoclonal in nature, are known to occur in patients with the adult form of Gaucher's disease. We describe amyloidosis in a 46-year-old woman of Italian ancestry with Gaucher's disease, who also had 3100 mg/dl of monoclonal IgA. She died of restrictive cardiac diseas... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Elevations in serum immunoglobulins\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"adult form of Gaucher's disease",
"amyloidosis",
"Gaucher's disease",
"restrictive cardiac disease",
"amyloidosis",
"complicating Gaucher's disease"
] | null | [
"died"
] | null | [
"Italian ancestry"
] | [
"Elevations in serum immunoglobulins",
"monoclonal in nature",
"1300 mg/dl of polyclonal IgM",
"large amount of immunoglobulin present has specific affinity for glucosyl ceramide"
] | [
"no evidence of amyloidosis",
"no evidence that"
] |
gaucher:106802 | [Infantile form of Gaucher's disease. Clinical and biological studies in 1 case. Prenatal diagnosis in 2 further normal pregnancies]. | [
"A clinical report of a typical case of infantile Gaucher's disease is given. Study of the beta-glucosidase activity in leukocytes and skin fibroblasts confirmed the diagnosis in the patient and established the heterozygote condition of the parents. Two later pregnancies have been monitored by enzymatic study of cu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A clinical report of a typical case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infantile Gaucher's disease\n <span style=\"font-size: 0.8em; font-... | [
"infantile Gaucher's disease"
] | null | [
"cerebral lesion"
] | null | null | null | null |
gaucher:105017 | Pitfalls in the use of artificial substrates for the diagnosis of Gaucher's disease. | [
"A patient with Gaucher's disease is described, in whom the disease could not be diagnosed enzymically in liver and leucocytes using artificial substrate 4-methylumbelliferyl beta-glucoside. Normal activity was found in the liver, and about 60% of control activity was determined in the patient's leucocytes. In cont... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Gaucher's disease"
] | null | null | null | null | [
"about 60% of control activity was determined in the patient's leucocytes",
"activity as low as 5% of control has been found in all the proband's tissues"
] | [
"disease could not be diagnosed enzymically in liver and leucocytes",
"Normal activity was found in the liver"
] |
gaucher:216091 | [Report of a case of Gaucher's disease in adult]. | [
"The authors report a case of Gaucher's disease in an adult. This is a rare disease due to the accumulation of a glucoceramide in the reticulo-endothelial cells and may remain for long clinically symptomless, as in this case. The diagnosis suggested by the biological disturbance, viz. moderate thrombopenia, hyperga... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Gaucher's disease"
] | null | null | null | null | [
"moderate thrombopenia",
"hypergammaglobulinemia",
"increase in SGPT",
"intraleukocytic glucosidase deficiency"
] | [
"remain for long clinically symptomless"
] |
gaucher:581149 | Amyloidosis. An unusual complication of Gaucher's disease. | [
"Gaucher's disease has been associated with plasma cell dyscrasias. A patient had Gaucher's disease, nephrotic syndrome, and systemic amyloidosis. Plasmacytosis in the bone marrow, the presence of light chains in the urine and renal glomeruli, and the finding of low circulating immunoglobulin levels suggest that th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"Gaucher's disease",
"nephrotic syndrome",
"systemic amyloidosis",
"amyloid",
"plasma cell dyscrasia"
] | null | null | null | null | [
"low circulating immunoglobulin levels"
] | null |
gaucher:686020 | Unusual cardiac, renal and pulmonary involvement in Gaucher's disease. Intersitial glucocerebroside accumulation, pulmonary hypertension and fatal bone marrow embolization. | [
"A 25 year old black woman who had manifestations of Gaucher's disease since one year of age is described. This patient had clinically significant cardiac, renal and pulmonary involvement with Gaucher's disease. Interstitial infiltration of the myocardium by Gaucher cells caused decreased left ventricular complianc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 25 year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"clinically significant cardiac, renal and pulmonary involvement",
"decreased left ventricular compliance",
"decreased cardiac output",
"pulmonary findings",
"pulmonary arterial hypertension",
"fatal bone marrow embolization"
] | null | [
"black"
] | null | null |
gaucher:751324 | Immune deficiency, thrombocytopenia and osteomyelitis in pediatric patients. | [
"Surgical decompression of osteomyelitis in pediatric patients should be an essential part of therapy in most cases. The initial deferral of prompt decompression in two patients because of underlying chronic, hemorrhagic (thrombocytopenic) disorders-one with Wiskott-Aldrich syndrome and one with Gaucher's disease-r... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Surgical decompression of osteomyelitis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"chronic, hemorrhagic (thrombocytopenic) disorders",
"Wiskott-Aldrich syndrome",
"Gaucher's disease",
"hemorrhagic disorder"
] | null | [
"more serious and prolonged courses of the infectious processes",
"more widespread dissemination or prolongation of osseous infection"
] | [
"Surgical decompression of osteomyelitis",
"earlier drainage",
"early drainage"
] | null | null | [
"deferral of prompt decompression"
] |
gaucher:97023 | [Lipid thesaurismosis rheumatism. Joint manifestation during glucocerebrosidase deficiency (Gaucher's disease). Ultrastructural study of the synovial membrane]. | [
"Articular inflammatory involvement may be the first sign of gluocecerebrosidase deficiency (Gaucher's disease). Electron microscope study shows specific synovial storage lesions which explain arthritic manifestations. Furthermore presence of mitochondrial microcrystals, (apatite?), suggest microcrystal pathogenesi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Articular inflammatory involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Gaucher's disease)",
"Gaucher's arthritis"
] | null | [
"Articular inflammatory involvement",
"arthritic manifestations"
] | null | null | [
"gluocecerebrosidase deficiency"
] | null |
gaucher:629842 | [Gaucher's disease. Morphological study of lymph nodes by electron microscopy]. | [
"The morphological study of lymph node biopsies by light and electron microscopes is reported. The patient was a 7 months old infant with Gaucher's disease and infection symptoms of upper respiratory ducts. We believe this to be a case of lesser affection, since the patient was admitted complaining of complications... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n morphological study of lymph node biopsies\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Gaucher's disease"
] | null | [
"infection symptoms of upper respiratory ducts",
"complications",
"Lymphadenopathy",
"moderate liver",
"splenomegaly"
] | null | null | null | null |
gaucher:306591 | Gaucher's disease and pregnancy. | [
"Two patients with Gaucher's disease during pregnancy are reported. In one there were severe puerperal hemorrhagic complications attributable to thrombocytopenia secondary to infiltration of the reticuloendothelial system by Gaucher cells. The conclusion as reported in previous literature, which is reviewed, regard... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Gaucher's disease",
"pregnancy"
] | null | [
"severe puerperal hemorrhagic complications"
] | null | null | [
"thrombocytopenia"
] | [
"absence of hemorrhagic complications"
] |
gaucher:27787 | Multiple glycosidase deficiencies in a case of juvenile (type 3) Gaucher disease. | [
"Biochemical investigations were performed on autopsy tissues obtained from an 11-year-old girl who died with the juvenile, subacute neuropathic form of Gaucher disease. In addition to the expected deficiency of glucocerebrosidase activity, extracts of both liver and kidney from this individual displayed a profound... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Biochemical investigations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"juvenile, subacute neuropathic form of Gaucher disease",
"subacute neuropathic Gaucher disease",
"Gaucher disease"
] | null | [
"died"
] | null | null | [
"deficiency of glucocerebrosidase activity",
"profound (greater than or equal to 90%) deficiency of \"soluble\" beta-glucosidase, beta-xylosidase, and beta-galactosidase activities",
"markedly reduced levels of beta-xylosidase activity",
"soluble beta-glucosidase, beta-xylosidase, and a portion of the beta-ga... | [
"normal levels of beta-D-fucosidase and beta-galactosidase activity"
] |
gaucher:206129 | Marked elevation of serum angiotension-converting enzyme and hepatic fibrosis containing long-spacing collagen fibrils in type 2 acute neuronopathic Gaucher's disease. | [
"Serum angiotensin-converting enzyme in a patient with type 2 acute neuronopathic Gaucher's disease (242 nmol/min/ml) was 10.8 times higher than values for eight patients with other hereditary neurologic abnormalities (22.5 +/- 2.0) and 9.4 times higher than those for 12 patients with other diseases (25.7 +/- 2.6) ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Serum angiotensin-converting enzyme\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"type 2 acute neuronopathic Gaucher's disease",
"type 2 Gaucher's disease"
] | null | [
"neurologic involvement",
"hepatosplenomegaly"
] | null | null | [
"Serum angiotensin-converting enzyme",
"(242 nmol/min/ml) was 10.8 times higher",
"(22.5 +/- 2.0)",
"25.7 +/- 2.6)",
"elevated serum angiotensin-converting enzyme"
] | [
"hereditary neurologic abnormalities",
"Serum lysozyme was not elevated",
"type 2 Gaucher's disease"
] |
gaucher:96723 | Clinical variation in 2 related children with neuronopathic Gaucher disease. | [
"The clinical features in 2 second cousins with neuronopathic Gaucher disease include slowly progressive ataxia, spasticity, myoclonus, and seizures with relative preservation of intellectual function. Organomegaly was noted only in Patient 1. Both patients had diffuse slowing with paroxysmal features in electroenc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The clinical features in 2 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n second cousins with neuronopathic Gaucher disease\n <span style=\"font-size: 0.... | null | [
"different mutation"
] | [
"slowly progressive ataxia",
"spasticity",
"myoclonus",
"seizures",
"Organomegaly",
"diffuse slowing with paroxysmal features in electroencephalograms"
] | null | null | [
"deficiency of beta-glucosidase activity in leukocytes and skin fibroblast cultures",
"value of beta-glucosidase activity",
"defective enzyme component not detectable by measuring total activity"
] | [
"relative preservation of intellectual function"
] |
gaucher:629653 | [2 cases of reticulohistiocytosis]. | [
"Excerpts from case histories and the results of morphological examinations of organs and tissues of a man of 17 with Letterer-Siwe disease and a man of 26 with Gaucher's disease are presented. Noteworthy is the fact of morphological similarity of eosinophilic granulema and Letterer-Siwe disease and transition of t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Excerpts from case histories and the results of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n morphological examinations of organs and tissues\n <span s... | [
"Letterer-Siwe disease",
"Gaucher's disease",
"Letterer-Siwe disease"
] | null | null | null | null | null | null |
gaucher:210612 | Peripheral cryoglobulinemic neuropathy in a patient with Gaucher's disease. | [
"Cryoglobulinemia with peripheral cryoglobulinemic neuropathy is reported in a patient with Gaucher's disease. To the best of our knowledge, a similar relationship has not been previously described. The question whether the cryoglobulinemic neuropathy in this patient is related to Gaucher's disease, or is a mere co... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cryoglobulinemia with peripheral cryoglobulinemic neuropathy\n <span style=\"font-size: 0.8em; font-weight... | [
"Cryoglobulinemia with peripheral cryoglobulinemic neuropathy",
"Gaucher's disease",
"cryoglobulinemic neuropathy",
"Gaucher's disease"
] | null | null | null | null | null | null |
gaucher:204020 | [Gamma heavy chain disease associated with rheumatoid arthritis. Spontaneous disappearance of the pathologic protein]. | [
"The authors report the chance discovery in a man aged 53 years with serum positive rheumatoid arthritis, of gamma 3 heavy chain disease. The originality of this case depended on the absence of any detectable lymphoid proliferation and on the transient character of the pathological protein. Only the course after a ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors report the chance discovery in a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n man\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"gamma 3 heavy chain disease",
"heavy chain disease"
] | null | null | null | null | [
"serum positive rheumatoid arthritis",
"transient character of the pathological protein"
] | [
"absence of any detectable lymphoid proliferation",
"no incipient lymphoid proliferation"
] |
gaucher:921829 | Acute bilateral symmetrical pathologic fractures of the lateral tibial plateaus in a patient with Gaucher's disease. | [
"A 41-year-old woman with Gaucher's disease developed bone crises of both proximal tibiae and of her spine concurrent with a syndrome of severe gastroenteritis. Three to six months later the bilateral symmetrical pathologic collapse of both lateral tibial plateaus occurred. The unusual occurrence of multiple bone c... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 41-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher's disease"
] | null | [
"bone crises of both proximal tibiae and of her spine",
"syndrome of severe gastroenteritis",
"bilateral symmetrical pathologic collapse of both lateral tibial plateaus",
"multiple bone crises",
"gastroenteritis"
] | null | null | [
"severe viremia"
] | null |
gaucher:304070 | Surface marker and other characteristics of Gaucher's cells. | [
"A full surface marker study of the splenic storage cells in a case of Gaucher's disease largely substantiates the monocyte/histiocyte nature of Gaucher's cells. In addition, an apparent T-lymphocyte deficiency is demonstrated in the spleen and peripheral blood, and the possible significance of this finding is disc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n full surface marker study of the splenic storage cells\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"Gaucher's disease"
] | null | null | null | null | [
"apparent T-lymphocyte deficiency is demonstrated in the spleen and peripheral blood"
] | null |
gaucher:200923 | Enzyme replacement therapy in Gaucher's disease: preliminary clinical trial of a new enzyme preparation. | [
"A patient with far-advanced adult type Gaucher's disease was treated with solubilized, highly purified placental glucocerebrosidase administered after entrapment in human erythrocytes or by direct intravenous injection. In some instances the enzyme-containing erythrocytes were coated with gamma globulin. No toxic ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n far-advanced adult type Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"far-advanced adult type Gaucher's disease"
] | null | [
"some improvement of liver function",
"possible decrease in liver size",
"relief of subjective symptoms"
] | [
"solubilized, highly purified placental glucocerebrosidase administered after entrapment in human erythrocytes or by direct intravenous injection",
"enzyme-containing erythrocytes were coated with gamma globulin",
"enzyme infusion",
"enzyme infusion",
"decrease in transfusion requirement"
] | null | [
"possibly significant decrease in leukocyte and platelet levels of the glycolipid"
] | [
"No toxic side effects",
"Erythrocyte and plasma glucocerebroside levels were unchanged during therapy",
"No changes occurred in serum acid phosphatase or angiotensin-converting enzyme activity"
] |
gaucher:900150 | Severe pulmonary involvement in adult Gaucher's disease. Report of three cases and review of the literature. | [
"Three patients with \"adult\" Gaucher's disease with severe pulmonary involvement are described. The clinical course of these patients was characterized by hepatosplenomegaly in infancy, followed by the juvenile onset of dyspnea culminating in pulmonary failure and death. Pathologic examination of the lungs in the... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n "adult" Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"\"adult\" Gaucher's disease",
"juvenile\" forms of Gaucher's disease",
"Gaucher's disease"
] | null | [
"severe pulmonary involvement",
"hepatosplenomegaly",
"juvenile onset of dyspnea",
"pulmonary failure",
"death",
"malignant course",
"pulmonary involvement"
] | null | null | null | [
"lack of neurologic involvement"
] |
gaucher:69198 | Treatment of Gaucher's disease with liposome-entrapped glucocerebroside: beta-glucosidase. | [
"An adult with Gaucher's disease was injected with liposomes containing human glucocerebroside: beta-glucosidase. After 13 months of treatment the lower border of the right hepatic lobe and moved up 3 cm, and the left lobe had shrunk. Reduction in the size of the liver was associated with relief of pressure symptom... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n adult\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"Gaucher's disease"
] | null | [
"the lower border of the right hepatic lobe and moved up 3 cm, and the left lobe had shrunk",
"Reduction in the size of the liver",
"relief of pressure symptoms in the left lower abdomen"
] | [
"injected with liposomes containing human glucocerebroside: beta-glucosidase",
"13 months of treatment"
] | null | null | null |
gaucher:870871 | Neuropathic Gaucher's disease with normal 4-methylumbelliferyl-beta-glucosidase activity in the liver. | [
"beta-Glucosidase activity was measured in control subjects and in five patients with neuropathic Gaucher's disease. In three patients with Gaucher's disease, methylumbelliferyl- and p-nitrophenyl-beta-d-glucopyranoside (4MU- and PNP-beta-glucosidase) activity was almost normal in the liver but markedly reduced in ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n beta-Glucosidase activity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"neuropathic Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease"
] | null | null | null | null | [
"beta-Glucosidase activity",
"methylumbelliferyl- and p-nitrophenyl-beta-d-glucopyranoside (4MU- and PNP-beta-glucosidase) activity was almost normal in the liver",
"markedly reduced in the spleen and fibroblasts",
"4MU- and PNP-beta-glucosidase activity was also very much reduced in the liver, spleen, and fi... | [
"normal 4MU- and PNP-beta-glucosidase activity",
"no activity measured with glucocerebroside",
"almost normal activity of 4MU-beta-glucosidase was detected"
] |
gaucher:408464 | Juvenile Gaucher's disease with horizontal gaze palsy in three siblings. | [
"Three children in a West African family had Gaucher's disease of juvenile onset (Type 3), and all showed an identical neurological disorder. The diagnosis was substantiated by histochemical demonstration of Gaucher cells in bone marrow, liver, and spleen, the finding of an excess of glucosyl ceramides in a liver e... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n children\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Gaucher's disease of juvenile onset",
"(Type 3)"
] | null | [
"identical neurological disorder",
"myoclonic epilepsy",
"muscle wasting",
"hypotonia",
"pyramidal signs",
"some intellectual deterioration",
"striking disturbance of eye movements",
"specific involvement of the supranuclear pathways subserving lateral gaze"
] | null | [
"West African"
] | [
"deficient activity of the enzyme beta-glucosidase in cultured skin fibroblasts"
] | null |
gaucher:857244 | [Esophageal localizations of Crohn's disease]. | [
"Oesophageal localisations of Crohn's disease are perhaps not as rare as is classically supposed. The chance discovery of an oesophageal localisation of Crohn's disease led the authors to undertake routine study of the oesophagus in their last 18 patients suffering from the disorder. Each patient underwent endoscop... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Oesophageal localisations of Crohn's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | null | null | [
"Oesophageal localisations of Crohn's disease",
"oesophageal localisation of Crohn's disease"
] | null | null | null | null |
gaucher:576736 | Infantile Gaucher's disease: neuropathology, acid hydrolase activities and negative staining observations. | [
"A case of infantile Gaucher's disease with widespread cerebral degenerative changes is presented. Neuropathological features included perivascular Gaucher cell infiltrates accompanied by periadventitial fibrogliosis, focal neuronophagia, Purkinje cell vacuolation and diffuse astrocytosis of cerebellar white matter... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infantile Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"infantile Gaucher's disease"
] | null | [
"widespread cerebral degenerative changes",
"Neuropathological",
"focal neuronophagia",
"diffuse astrocytosis of cerebellar white matter, brain stem and spinal paracentral grey matter"
] | null | null | [
"relative deficiency of acid beta-glucosidase was found in spleen homogenate",
"considerable increase in acid phosphohydrolase, N-acetylglucosaminidase, beta-glucuronidase and beta-galactosidase"
] | null |
gaucher:1017943 | Coexistence of factor XI (plasma thromboplastin antecedent) deficiency and Gaucher's disease. | [
"The findings of Factor XI (plasma thromboplastin antecedent) deficiency in a patient with Gaucher's disease was investigated. A family study, which included measurements of leukocyte glucocerebrosidase activity and Factor XI levels, revealed that the two genetic disorders segregated independently. One of 12 additi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The findings of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Factor XI (plasma thromboplastin antecedent) deficiency\n <span style=\"font-size: 0.8em; ... | [
"Gaucher's disease",
"Gaucher's disease"
] | [
"genetic disorders",
"both genetic disorders",
"high gene frequency of both defects"
] | null | null | [
"Ashkenazic Jews"
] | [
"Factor XI (plasma thromboplastin antecedent) deficiency",
"diminished Factor XI level",
"Factor XI-deficient",
"decreased glucocerebrosidase activity"
] | null |
gaucher:1267559 | Factor IX deficiency in Gaucher disease. An in vitro phenomenon. | [
"Low factor IX coagulant activity was demonstrated in a patient with Gaucher disease before and after splenectomy. The same abnormality was found in seven of ten additional patients studied. Possibly, abnormally retained sphingolipids inactivate or interfere with the action of certain procoagulants."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Low factor IX coagulant activity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Gaucher disease"
] | null | null | [
"splenectomy"
] | null | [
"Low factor IX coagulant activity"
] | null |
gaucher:1246982 | Coexistence of Hodgkin's disease and Gaucher's disease. | [
"A case of Hodgkin's disease associated with long-standing Gaucher's disease is presented and compared with the only previously reported case. The two diseases coexisted in lymph nodes both above and below the diaphragm, liver, bone marrow, and pancreas. The question of a possible relationship of the two diseases i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hodgkin's disease associated with long-standing Gaucher's disease\n <span style=\"font-size: 0.8... | [
"Hodgkin's disease associated with long-standing Gaucher's disease"
] | null | null | null | null | null | null |
gaucher:1200092 | Ocular manifestations of Gaucher's disease. | [
"A 27-year-old woman not only had the usual clinical and laboratory features of the adult form of Gaucher's disease but also had typical pingueculae and a peculiar lesion with a pigmented temporal edge in the fundus of her left eye. Bone-marrow aspiration demonstrated infiltration by Gaucher's cells and a biopsy of... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 27-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | null | null | [
"usual clinical and laboratory features of the adult form of Gaucher's disease",
"typical pingueculae",
"peculiar lesion with a pigmented temporal edge in the fundus of her left eye"
] | null | null | null | null |
gaucher:1185338 | Combined portal and vena caval hypertension in Gaucher disease: The value of preoperative venography. | [
"Portal hypertension in Gaucher disease is unusual; the seventh known patient with this complication is reported. Prior to portacaval shunting in this child, a localized obstruction of the inferior vena cava at the subdiaphragmatic level was demonstrated by caval manometry and inferior vena cavography. At autopsy, ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Portal hypertension\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Gaucher disease"
] | null | [
"Portal hypertension",
"localized obstruction of the inferior vena cava at the subdiaphragmatic level",
"portal hypertension",
"Nodular enlargement of the right and caudate lobes of the liver",
"caval obstruction",
"elevated caval resistance",
"portal hypertension",
"portal hypertension"
] | [
"portacaval shunting"
] | null | null | [
"failure of a portacaval anastomosis"
] |
gaucher:241947 | Infantile Gaucher's disease: glucocerebrosidase deficiency in peripheral blood leukocytes and cultured fibroblasts. | [
"A patient with infantile Gancher's disease is described. A marked decrease of the activity of beta-glucosidase at the lower pH 4.2 was found in peripheral blood leukocytes, whereas in cultured skin fibroblasts the activity at both pH'S 4.2 and 5.2 was decreased. Examining the leukocytes of the heterozygous parents... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infantile Gancher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"infantile Gancher's disease"
] | null | null | null | null | [
"marked decrease of the activity of beta-glucosidase at the lower pH 4.2 was found in peripheral blood leukocytes",
"the activity at both pH'S 4.2 and 5.2 was decreased",
"activities of beta-glucosidase at both pH's were within the values of controls",
"ratio's of activity of pH 5.2 to that at pH 4.2 were inc... | null |
gaucher:1185223 | Progressive myoclonic epilepsy due to Gaucher's disease in an adult. | [
"A 39 year old Jewish male with a 22 year history of progressive myoclonic epilepsy was found to have Gaucher cells in his sternal bone marrow. The diagnosis of Gaucher's disease was confirmed by the demonstration of beta-glucosidase deficiency in fibroblasts. Although neurological involvement is extremely rare in ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 39 year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher's disease",
"Gaucher's disease",
"lipidosis"
] | null | [
"progressive myoclonic epilepsy",
"neurological involvement",
"progressive myoclonic epilepsy"
] | null | [
"Jewish"
] | [
"beta-glucosidase deficiency in fibroblasts"
] | null |
gaucher:1195053 | Gaucher's disease associated with chronic lymphocytic leukaemia, gout and carcinoma. | [
"A case report of Gaucher's disease associated with chronic lymphocytic leukaemia is described in a patient with gout and carcinoma of the sigmoid colon. This the first reported case of Gaucher's disease associated with chronic lymphocytic leukaemia."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case report of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease associated with chronic lymphocytic leukaemia\n <span style=\"font-size... | [
"Gaucher's disease associated with chronic lymphocytic leukaemia",
"gout",
"Gaucher's disease associated with chronic lymphocytic leukaemia"
] | null | [
"carcinoma of the sigmoid colon"
] | null | null | null | null |
gaucher:1155227 | Gaucher's disease and benign monoclonal gammapathy. A case report with immunofluorescence study of bone marrow and spleen. | [
"A case of chronic non-neuronopathic Gaucher's disease is presented. The diagnosis was based on the finging of typical Gaucher cells in the bone marrow spleen. The patient also had a benign monoclonal gammapathy. Immunofluorescence studies of bone marrow and spleen were performed using monospecif antisera against i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n chronic non-neuronopathic Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"chronic non-neuronopathic Gaucher's disease",
"benign monoclonal gammapathy"
] | null | null | null | null | [
"monospecif antisera against immunoglobulin heavy and light chains"
] | null |
gaucher:5212362 | Haemorrhagic pericardial effusion in adult Gaucher's disease. | [
"A case of adult Gaucher's disease presenting with haemorrhagic pericardial effusion is reported. Three similar cases have been reported. The possible aetiological factors in this case are assessed, the likely cause being thrombocytopenia due to hypersplenism associated with Gaucher's disease."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n adult\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher's disease"
] | null | [
"haemorrhagic pericardial effusion"
] | null | null | [
"thrombocytopenia due to hypersplenism"
] | null |
hae:35132366 | Oral Surgery Procedures in a Patient Affected by Hereditary Angioedema Type I. | [
"Hereditary Angioedema (HAE) is a rare disease characterized by a deficiency or a reduced function of the plasma protein C1 esterase inhibitor (C1-INH), which is involved in the downregulation of several inflammatory pathways. Patients affected by HAE suffer from episodic swellings of subcutaneous or submucosal tis... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary Angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary Angioedema (HAE)",
"HAE",
"HAE type I"
] | null | [
"episodic swellings of subcutaneous or submucosal tissues",
"Swellings",
"stress",
"life-threatening",
"airways are involved",
"HAE attacks",
"good surgical healing",
"acute HAE attacks"
] | [
"dental and surgical procedures",
"oral surgery procedures",
"under a short-term prophylaxis with C1-INH plasma-derived concentrate",
"cyst removal",
"multiple tooth extractions, and an excisional biopsy",
"with a prophylaxis with C1-INH plasma-derived concentrate",
"hospitalized for 36 hours after the ... | null | [
"deficiency or a reduced function of the plasma protein C1 esterase inhibitor (C1-INH)",
"downregulation of several inflammatory pathways"
] | [
"not show signs of swelling nor of HAE attacks"
] |
hae:34991189 | An anesthetic experience of hereditary angioedema type I patient undertook total laparoscopic hysterectomy - A case report. | [
"Hereditary angioedema (HAE) is an autosomal dominant disorder. The characteristic of HAE is recurrent angioedema episodes due to low C1 esterase inhibitor (C1-INH) level. HAE symptoms, especially those affecting oropharynx or larynx may develop respiratory distress syndrome due to impaired airway, which can be pot... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"type I HAE",
"HAE"
] | [
"autosomal dominant disorder"
] | [
"recurrent angioedema episodes",
"HAE symptoms",
"those affecting oropharynx or larynx",
"respiratory distress syndrome",
"impaired airway",
"upper airway edema by direct mucosal irritation by the endotracheal tube"
] | [
"total laparoscopic hysterectomy",
"general endotracheal anesthesia",
"Danazol, which increases liver synthesis of C1- INH",
"fresh frozen plasma (FFP), which contained C1-INH, was transfused after induction",
"general anesthesia",
"perioperative management",
"prophylactic increase of C1-INH production ... | null | [
"low C1 esterase inhibitor (C1-INH) level"
] | [
"without inducing airway edema"
] |
hae:34987924 | A Rare Case of Dulaglutide-Associated Angioedema in a Male Patient. | [
"Dulaglutide is an injectable glucagon-like peptide-1 receptor agonist approved for the treatment of adults with type 2 diabetes. Angioedema is defined as self-limiting edema, localized in the deeper layers of the skin and mucosa. Angioedema can be hereditary or acquired which can be allergic due to reactions to fo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Dulaglutide\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"type 2 diabetes",
"Angioedema",
"Angioedema",
"acquired",
"drug-induced",
"lupus erythematosus",
"hypereosinophilia",
"Angioedema"
] | [
"hereditary"
] | [
"self-limiting edema, localized in the deeper layers of the skin and mucosa",
"allergic due to reactions to foods, insect bites and stings, and latex",
"physical stimuli",
"angioedema"
] | [
"Dulaglutide",
"injectable glucagon-like peptide-1 receptor agonist",
"glucagon-like peptide-1 receptor agonists",
"glucagon-like peptide-1 receptor agonist",
"exenatide",
"dulaglutide-associated angioedema"
] | null | null | null |
hae:34976488 | Hereditary Angioedema: A Gynecology and Obstetrics Perspective. | [
"Hereditary angioedema is an autosomal dominant genetic disease that causes tissue edema mediated by bradykinin. The angioedema attacks have several triggers including stress, trauma, infection, and increased estrogens levels. This explains the greater incidence and clinical severity in women, which are usually asy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"angioedema",
"Hereditary angioedema attacks",
"hereditary angioedema"
] | [
"autosomal dominant genetic disease"
] | [
"tissue edema",
"angioedema attacks",
"stress",
"trauma",
"infection",
"multiple locations on the body",
"severe acute abdominal pain",
"laryngeal edema",
"death",
"asphyxia",
"death"
] | [
"surgical intervention",
"specific medication that includes icatibant, ecallantide, and C1 inhibitor",
"in short-term and long-term prophylaxis",
"pharmacological strategies for long-term prophylaxis",
"lanadelumab, danazol, stanozolol, aminocaproic acid, and tranexamic acid",
"treatment and prophylaxis",... | null | [
"bradykinin",
"increased estrogens levels"
] | [
"asymptomatic",
"does not respond to life-saving medications commonly used in its treatment, namely, high doses of second-generation antihistamines, corticosteroids, and epinephrine"
] |
hae:34972776 | Abdominal hereditary angio-oedema caught on magnetic resonance imaging. | [
"A 17-year-old woman presented with a 3-year history of recurrent, severe abdominal pain with spontaneous resolution within a few days. An ultrasound revealed nothing more than free fluid within the pelvis. An MRI of the small bowel was done within 24 hours of abdominal pain onset, which revealed extensive submucos... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 17-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hereditary angio-oedema"
] | null | [
"recurrent, severe abdominal pain",
"spontaneous resolution within a few days",
"abdominal pain onset",
"extensive submucosal oedema associated with moderate volume ascites",
"near-complete resolution of these changes",
"abdominal presentation",
"recurrent abdominal pain",
"acute attack"
] | null | null | [
"Checking C1 inhibitor levels"
] | [
"nothing more than free fluid within the pelvis"
] |
hae:34904566 | [Prophylaxis in hereditary angioedema with normal C1 inhibitor]. | [
"Hereditary angioedema is an infrequent genetic disorder; which mainly manifests with cutaneous and mucosal swelling. Minor trauma may trigger potentially life-threatening events. In type I and II hereditary angioedema, plasma-derived C1-inhibitor concentrate can be used as short-term prophylaxis. For hereditary an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"type I and II hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema"
] | [
"infrequent genetic disorder"
] | [
"cutaneous and mucosal swelling",
"Minor trauma",
"potentially life-threatening events"
] | [
"plasma-derived C1-inhibitor concentrate",
"short-term prophylaxis",
"prophylaxis",
"multiple dental extractions",
"surgical procedure",
"under general anesthesia",
"using 1000 U of plasma-derived C1-inhibitor concentrate as prophylaxis an hour before",
"admitted in the ICU for postsurgical care",
"... | null | [
"normal C1 inhibitor"
] | [
"normal C1 inhibitor",
"normal C1 inhibitor"
] |
hae:34815876 | Patient and caregiver perspectives on transitioning to oral prophylaxis in the emerging hereditary angioedema treatment landscape. | [
"This report describes the successful transition of two familial patients with HAE from injectable to oral prophylaxis without tapering prior therapy or employing a complex transition protocol."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This report describes the successful transition of two familial patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n HAE\n <span style=\"font-siz... | [
"HAE"
] | null | null | [
"from injectable to oral prophylaxis"
] | null | null | [
"without tapering prior therapy or employing a complex transition protocol"
] |
hae:34756369 | Tranexamic acid for ACE inhibitor induced angioedema - A case report. | [
"Tranexamic acid (TXA) is an antifibrinolytic agent which inhibits conversion of plasminogen to plasmin, a key step in kallikrein activation and bradykinin formation. Tranexamic acid is used in prophylactic management of hereditary angioedema; however, evidence for TXA in angiotensin converting enzyme (ACE) inhibit... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Tranexamic acid (TXA) is an antifibrinolytic agent\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"hereditary angioedema",
"ACEI-AE",
"ACEI-AE"
] | null | null | [
"Tranexamic acid (TXA) is an antifibrinolytic agent",
"Tranexamic acid",
"prophylactic management",
"TXA",
"angiotensin converting enzyme (ACE) inhibitor-induced angioedema (ACEI-AE)",
"TXA",
"TXA"
] | null | [
"inhibits conversion of plasminogen to plasmin",
"kallikrein activation and bradykinin formation"
] | null |
hae:34722915 | Resolution of Laryngeal Oedema in a Patient with Acquired C1-Inhibitor Deficiency. a Case Report. | [
"Laryngeal oedema caused by acquired angioedema due to C1-inhibitor deficiency (C1-INH-AAE) is a life-threatening condition. The swelling is bradykinin mediated and will not respond to the usual treatment with antihistamines, corticosteroids, or epinephrine. Instead, kallikrein-bradykinin-targeted therapies should ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Laryngeal oedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"acquired angioedema due",
"Angioedema",
"C1-INH-AAE associated with monoclonal gammopathy of uncertain significance (MGUS)",
"C1-INH-AAE",
"C1-INH-AAE",
"rare disorder"
] | null | [
"Laryngeal oedema",
"swelling",
"asphyxiation",
"one-year history of peripheral, facial, and neck oedema",
"splenomegaly",
"life-threatening, standard treatment-resistant laryngeal oedema",
"laryngeal attacks",
"angioedema of the upper airways",
"asphyxiation"
] | [
"kallikrein-bradykinin-targeted therapies",
"emergency care treatment plan",
"recombinant human C1-inhibitor",
"and fresh frozen plasma",
"prophylactic treatment with antifibrinolytics",
"emergency care treatment plan"
] | null | [
"C1-inhibitor deficiency (C1-INH-AAE)",
"bradykinin mediated",
"complement level deficiencies"
] | [
"will not respond to the usual treatment with antihistamines, corticosteroids, or epinephrine",
"Treatment with antihistamines and corticosteroids had been ineffective",
"bone marrow biopsy was normal",
"No further angioedema attacks"
] |
hae:34656181 | Anaphylactic and nonanaphylactic reactions to SARS-CoV-2 vaccines: a systematic review and meta-analysis. | [
"Currently there is no systematic review and meta-analysis of the global incidence rates of anaphylactic and nonanaphylactic reactions to SARS-CoV-2 vaccines in the general adult population.",
"To estimate the incidence rates of anaphylactic and nonanaphylactic reactions after COVID-19 vaccines and describe the d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Currently there is no systematic review and meta-analysis of the global incidence rates of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anaphylactic and n... | [
"anaphylaxis",
"non-anaphylaxis",
"anaphylactic/anaphylactoid shock",
"hypersensitivity",
"allergy reaction",
"allergic reaction",
"immunology reaction",
"immunologic reaction",
"allergic rhinitis, atopic and contact eczema/dermatitis",
"psoriasis",
"cholinergic urticaria",
"COVID-19 mRNA vacc... | null | [
"anaphylactic and nonanaphylactic reactions to SARS-CoV-2 vaccines",
"anaphylactic and nonanaphylactic reactions",
"anaphylactic reaction",
"nonanaphylactic reaction",
"angioedema",
"loss of consciousness",
"generalized erythema",
"urticaria",
"urticarial rash",
"cyanosis",
"grunting",
"strido... | [
"COVID-19 vaccines",
"vaccine recipients",
"Pfizer-BioNTech",
"Moderna",
"Vaccination with Pfizer-BioNTech",
"Moderna",
"Pfizer-BioNTech",
"Moderna",
"mRNA COVID-19 immunization"
] | null | [
"tryptase"
] | [
"self-limited",
"discourage vaccination"
] |
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