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:1773930 | [Acute infantile cerebral form of Gaucher disease]. | [
"A foetus causing attention by disharmonic growth retardation and suspected CTG, died within the 34th week of gestation. The infantile cerebral form (type II) of Gaucher's disease was detected by histological examination. In another pregnancy a second afflicted child was discovered by decreased cerebroside-beta-glu... | [
"<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 foetus\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"infantile cerebral form (type II) of Gaucher's disease",
"pregnancy"
] | null | [
"disharmonic growth retardation",
"suspected CTG",
"died"
] | [
"Abortion"
] | null | [
"decreased cerebroside-beta-glucosidase activity in amniotic fluid cells"
] | null |
gaucher:1951303 | Hematologic improvement in a patient with Gaucher disease on long-term enzyme replacement therapy: evidence for decreased splenic sequestration and improved red blood cell survival. | [
"We describe here an investigation of the hematologic response of a child with Gaucher disease to a six-year therapeutic trial of human placental mannose-terminated glucocerebrosidase. While on enzyme replacement therapy, the patient's hemoglobin and platelet count significantly increased (6.9 g/dl to 12.2 g/dl, an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe here an investigation of the hematologic response 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 child\n <span style=\"font-size: 0.8em;... | [
"Gaucher disease"
] | null | [
"splenic volume decreased by over 60% (2108ml to 797ml)",
"hematologic status"
] | [
"six-year therapeutic trial of human placental mannose-terminated glucocerebrosidase",
"enzyme replacement therapy"
] | null | [
"hemoglobin and platelet count significantly increased (6.9 g/dl to 12.2 g/dl, and 39,000/microliters to 74,000/microliters, respectively)",
"absolute reticulocyte count decreased (88.1 x 10(3)/microliters to 31.5 x 10(3)/microliters)",
"Serum erythropoietin levels were at the lower range of normal",
"severel... | [
"did not change"
] |
gaucher:1926620 | [Adult Gaucher's disease with pulmonary involvement]. | [
"Gaucher's disease is an autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase with accumulation of glucocerebroside in the reticuloendothelial system. Affection of the lungs by this disease is extremely rare. When Gaucher cells infiltrate the lung, fibrosis may result. We describe a ca... | [
"<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",
"adult type Gaucher's disease"
] | [
"autosomal recessive disorder"
] | [
"fibrosis",
"severe pulmonary involvement",
"extensive interstitial fibrosis",
"increased pulmonary vascular resistance",
"pronounced reduction in diffusion capacity"
] | null | null | [
"deficiency of the enzyme glucocerebrosidase"
] | null |
gaucher:1878585 | Enzyme replacement therapy for Gaucher disease. | [
"Four patients with moderately severe type I Gaucher disease were treated with commercially available mannose terminated glucocerebrosidase (Ceredase; Genzyme, Boston, MA) for up to 13 months. The enzyme was administered at the rate of three to four times weekly at one fourth the total recommended dosage, greatly d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Four 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 moderately severe type I Gaucher disease\n <span style=\"font-size: 0.8em; font-weight:... | [
"moderately severe type I Gaucher disease"
] | null | [
"Marked regression of hepatomegaly",
"pulmonary involvement",
"improvement in pulmonary function tests",
"Skeletal disease remained unchanged"
] | [
"treated with commercially available mannose terminated glucocerebrosidase (Ceredase;",
") for up to 13 months",
"The enzyme was administered at the rate of three to four times weekly at one fourth the total recommended dosage"
] | null | [
"improvement in liver function tests, peripheral blood counts, and serum angiotensin-converting enzyme levels"
] | null |
gaucher:1934792 | Diagnosing osteomyelitis in Gaucher's disease. Observations on two cases. | [
"Bone scans in two patients with Gaucher's disease were reported as consistent with Gaucher's-associated osseous crises. A bone-radiogallium subtraction study was also initially negative in each individual (although it later became positive in one). At surgery both patients were seen to have osteomyelitis. These tw... | [
"<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 Bone scans\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"Gaucher's disease",
"Gaucher's-associated osseous crises",
"osteomyelitis",
"osteomyelitis",
"Gaucher's bone disease",
"Gaucher's"
] | null | null | [
"surgery"
] | null | null | [
"A bone-radiogallium subtraction study was also initially negative",
"clinical reluctance to accept a diagnosis of osteomyelitis (positive bone-radiogallium subtraction study)",
"afebrile"
] |
gaucher:1776451 | Crisis in Gaucher disease simulating osteomyelitis: report of one case. | [
"An 11-year-old boy with Gaucher disease developed acute bone pain of the left thigh, accompanied by fever and signs of inflammation. Initially he was treated as osteomyelitis with antibiotics. Cultures of blood and aspirate of a subperiosteal hematoma were negative for bacterial growth. Tc99m bone scan revealed re... | [
"<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 disease",
"osteomyelitis",
"Gaucher crisis",
"bone pain crisis",
"infection",
"Gaucher crisis",
"osteomyelitis"
] | null | [
"acute bone pain of the left thigh",
"fever",
"signs of inflammation",
"relatively decreased uptake over the involved area"
] | null | null | null | [
"with antibiotics",
"negative for bacterial growth",
"Ga 67 imaging was positive",
"Antibiotics were discontinued without sequelae"
] |
gaucher:2060627 | Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. | [
"The lysosomal degradation of glucosylceramide requires the hydrolase, glucosylceramide-beta-glucosidase and a sphingolipid activator protein (Gaucher factor, SAP-2, saposin C). Genetic defects in either of these lysosomal proteins cause phenotypically similar disorders in man, the Gaucher disease. SAP-2 originates... | [
"<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 lysosomal degradation of glucosylceramide\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"Gaucher disease"
] | [
"Genetic defects in",
"a gene which generates a mRNA that codes for four homologous proteins",
"G1154----T transversion (counted from A of the initiation codon ATG) was found in the mRNA of the SAP-2 precursor which results in the substitution of Phe for Cys385 in the mature SAP-2"
] | null | null | null | [
"hydrolase, glucosylceramide-beta-glucosidase",
"sphingolipid activator protein (Gaucher factor, SAP-2, saposin C)",
"lysosomal proteins",
"SAP-2"
] | [
"immunologically proven SAP-2 deficiency",
"rest of the coding sequence remained entirely normal"
] |
gaucher:1877626 | Molecular analysis of Gaucher disease in a Vietnamese-Czechoslovak patient with high residual glucocerebrosidase activity. | [
"A Vietnamese-Czechoslovak type 1 Gaucher disease patient with mild hematological complications was found to have approximately 20% of the normal level of fibroblast glucocerebrosidase activity. Using primers that recognize exon 9 sequences of the glucocerebrosidase structural gene absent in the pseudogene, genomic... | [
"<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 Vietnamese-Czechoslovak\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"type 1 Gaucher disease"
] | [
"exon 9 sequences of the glucocerebrosidase structural gene absent in the pseudogene",
"A----G transition in exon 9 that resulted in the 370Ser----370Asp substitution in one of the alleles",
"In the other allele, a T----C transition in exon 10 resulted in the 444Leu----444Pro substitution, creating a NciI cleav... | [
"mild hematological complications"
] | null | [
"Vietnamese-Czechoslovak",
"Vietnamese"
] | [
"approximately 20% of the normal level of fibroblast glucocerebrosidase activity",
"detection of intermediate levels (42-55% of normal) of fibroblast glucocerebrosidase activity"
] | null |
gaucher:2039025 | Case report: serendipitous Gaucher's disease presenting as elevated erythrocyte sedimentation rate due to monoclonal gammopathy. | [
"Immunoglobulin abnormalities have not been previously noted in totally asymptomatic patients with Gaucher's disease. We report a 40-year-old woman in whom Gaucher's disease was diagnosed during investigation for incidentally discovered elevated erythrocyte sedimentation rate. Further studies revealed IgG(lambda) m... | [
"<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 Immunoglobulin abnormalities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease"
] | null | null | null | null | [
"Immunoglobulin abnormalities",
"elevated erythrocyte sedimentation rate",
"IgG(lambda) monoclonal gammopathy",
"paraproteinemia"
] | [
"none of the features of Gaucher's disease or multiple myeloma",
"absence of splenomegaly or any one of the other features of the disease"
] |
gaucher:1946931 | Treatment of type 1 Gaucher's disease affecting bone with aminohydroxypropylidene bisphosphonate (pamidronate). | [
"Two patients with Type 1 (adult) Gaucher's disease and major skeletal involvement with multiple fractures have been treated with the second generation bisphosphonate pamidronate for extensive periods. There was evidence of an immediate reduction in bone resorption, with increased calcium absorption (delayed in Pat... | [
"<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 Type 1 (adult) Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"Type 1 (adult) Gaucher's disease"
] | null | [
"major skeletal involvement",
"multiple fractures",
"immediate reduction in bone resorption",
"maintained or improved bone density indices in the axial and peripheral skeleton",
"subjective skeletal pain diminished"
] | [
"second generation bisphosphonate pamidronate for extensive periods",
"treatment cessation"
] | null | [
"increased calcium absorption",
"improved calcium balance"
] | [
"no evidence of immediate relapse",
"No toxic effects of pamidronate treatment"
] |
gaucher:1888845 | [Gaucher's disease type I, anticoagulant factor and pregnancy]. | [
"In this paper, we show the presence of an anticoagulant factor which induced a prolongation of the partial time of thromboplastin (PTT) in a 23 year old female with Gaucher's disease and premature delivery. We discuss the importance of this factor and the therapeutic efficacy of the total splenectomy in this type ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In this paper, we show 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 presence of an anticoagulant factor which induced a prolongation of the partial ti... | [
"Gaucher's disease"
] | null | [
"premature delivery",
"spleen enlargement",
"evolution of pregnancy to the end"
] | [
"total splenectomy"
] | null | [
"presence of an anticoagulant factor which induced a prolongation of the partial time of thromboplastin (PTT)"
] | null |
gaucher:2018834 | The "Normandy" variant of von Willebrand disease: characterization of a point mutation in the von Willebrand factor gene. | [
"We previously reported a functional defect of von Willebrand factor (vWF) in a new variant of von Willebrand disease (vWD) tentatively named vWD \"Normandy.\" The present work has attempted to characterize the molecular abnormality of this vWF that fails to bind factor VIII (FVIII). The immunopurified vWF from nor... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We previously reported 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 functional defect of von Willebrand factor (vWF)\n <span style=\"font-size: 0.8em... | [
"von Willebrand disease (vWD)",
"vWD \"Normandy"
] | [
"point mutation C to T at codon 791, resulting in the substitution of Methionine for Threonine at position 28 of the mature vWF subunit",
"nucleotide substitution destroyed a Mae II restriction site",
"Threonine at position 28 in plasma vWF"
] | null | null | null | [
"functional defect of von Willebrand factor (vWF)",
"fails to bind factor VIII (FVIII)",
"immunopurified vWF",
"vWF Normandy",
"polypeptide from amino acid 1 to 272",
"FVIII-binding",
"cystine-rich N-terminal domain"
] | null |
gaucher:1928613 | Uncoupling of blood flow and oxygen metabolism in the cerebellum in type 3 Gaucher disease. | [
"Cerebral blood flow and oxygen metabolism were measured in a fourteen-year-old girl with type 3 Gaucher disease by using positron emission tomography (PET). Cranial CT and MRI showed only mild brain atrophy. PET demonstrated uncoupling of cerebral blood flow and oxygen metabolism, that is, a mild increase of cereb... | [
"<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 Cerebral blood flow and oxygen metabolism were measured\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"type 3 Gaucher disease",
"type 3 Gaucher disease"
] | null | [
"only mild brain atrophy",
"uncoupling of cerebral blood flow and oxygen metabolism",
"mild increase of cerebral blood flow",
"functional abnormalities in the affected structures"
] | null | null | [
"reduction of oxygen extraction fraction and cerebral metabolic rate of oxygen only in the cerebellum"
] | null |
gaucher:1852673 | Massive gastrointestinal haemorrhage associated with ileal lymphoid hyperplasia in Gaucher's disease. | [
"A case report of adult type I Gaucher's disease is described, with profound terminal ileal haemorrhage in association with ileal lymphoid hyperplasia. Peroperative ileal endoscopy localized the segment involved allowing an appropriate resection and successful outcome for the patient."
] | [
"<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 adult\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"type I Gaucher's disease"
] | null | [
"profound terminal ileal haemorrhage",
"ileal lymphoid hyperplasia"
] | [
"appropriate resection"
] | null | null | null |
gaucher:1651436 | [Coincidence of Gaucher disease with primary hepatocellular carcinoma]. | [
"Case report on a 48-year-old man with Gaucher's disease and a HBsAg-positive cirrhosis simultaneously. Postmortem examination revealed a hepatocellular carcinoma suggested by antecedent ultrasound examination. The coexistence of Gaucher's disease and hepatocellular carcinoma has not been described before. A possib... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Case report on 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 48-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Gaucher's disease",
"HBsAg-positive cirrhosis",
"hepatocellular carcinoma",
"coexistence of Gaucher's disease",
"hepatocellular carcinoma",
"relationship between Gaucher's disease",
"hepatocellular carcinoma",
"Gaucher's disease",
"association to the hepatitis B infection"
] | null | null | null | null | null | null |
gaucher:1865664 | [Gaucher's disease]. | [
"Two cases of Gaucher's disease are described. The diagnosis was based on clinical appearance, observation of the typical cells in the sternal and splenic puncture biopsies. Leucocytic beta-glucocerebrosidase activity was found inhibited in contrast to normal activity of the other lysosomal glycosidases. A female o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two cases 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-height: 1; border... | [
"Gaucher's disease",
"chronic calculous cholecystitis",
"Gaucher's disease"
] | null | [
"significant changes in the bones",
"progressive enlargement of the liver"
] | [
"splenectomy"
] | null | [
"Leucocytic beta-glucocerebrosidase activity was found inhibited"
] | [
"normal activity of the other lysosomal glycosidases"
] |
gaucher:1998316 | Gaucher's disease complicated by bleeding esophageal varices and colonic infiltration by Gaucher cells. | [
"We report a 10-yr-old child with Gaucher's disease who developed upper gastrointestinal bleeding from esophageal varices, as well as hemorrhage from a colonic polyp infiltrated with Gaucher cells. Both the varices and polyp were treated endoscopically, and the outcome was successful. Although gastrointestinal hemo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 10-yr-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"upper gastrointestinal bleeding from esophageal varices",
"hemorrhage from a colonic polyp infiltrated with Gaucher cells",
"varices and polyp",
"gastrointestinal hemorrhage due to portal hypertension"
] | [
"treated endoscopically"
] | null | null | null |
gaucher:1893431 | [Difficulties in the diagnosis of Gaucher's disease]. | [
"The first diagnostic phase of Gaucher's disease is based on correct evaluation of clinical history as well as on finding of typical striated Gaucher's cells in bone marrow. Nevertheless, there can occur surprising diagnostic faults in spite of believed easy identification of this classic storage disease. They can ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The first diagnostic phase 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-... | [
"Gaucher's disease",
"storage disease"
] | null | null | null | null | null | null |
gaucher:1672707 | A case of nonneurologic Gaucher's disease that biochemically resembles the neurologic types. | [
"Systemic findings such as hepatosplenomegaly and typical Gaucher storage cells in a bone marrow aspirate led to the clinical diagnosis of Gaucher's disease in the seven-year old patient described in this report. On the basis of the lack of neurologic involvement the child was classified as having the Type 1, nonne... | [
"<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 Systemic findings\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"Type 1, nonneurologic form of Gaucher's disease",
"Type 1",
"neurologic",
"Types 2 and 3 forms of the disease"
] | [
"homoallelic for a T----C transition at position 1448 in the glucocerebrosidase cDNA that results in a 444Leu----Pro substitution in the glucocerebrosidase protein",
"latter mutation genotype"
] | [
"Systemic findings",
"hepatosplenomegaly"
] | [
"splenectomy"
] | null | [
"marked deficiency of glucocerebrosidase activity was evident in the splenic extract",
"anomalous behavior compared",
"failed to reconstitute with the acidic lipid phosphatidylserine"
] | [
"lack of neurologic involvement"
] |
gaucher:2019785 | Gaucher's disease affecting the mandible and maxilla. Report of a case. | [
"Gaucher's disease is a rare autosomal, recessive disorder characterized by deficiency of lyzosomal hydrolase glucocerebrosidase, and showing predilection for Ashkenazi Jews. A case of Gaucher's disease affecting both jaws and initially diagnosed by mandibular biopsy is described."
] | [
"<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"
] | [
"rare autosomal, recessive disorder"
] | [
"affecting both jaws"
] | null | [
"Ashkenazi Jews"
] | [
"deficiency of lyzosomal hydrolase glucocerebrosidase"
] | null |
gaucher:2056655 | [Correction of fatal genetic diseases using bone marrow transplantation. 2]. | [
"Genetic diseases can be treated by transplantation of normal allogeneic bone marrow. Four patients with congenital disorders of their hematopoietic and/or lymphoid stem cells have been transplanted. One patient had a congenital aplastic anemia (Blackfan-Diamond), one had Gaucher's disease, one had congenital agran... | [
"<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 Genetic diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Genetic diseases",
"congenital disorders of their hematopoietic and/or lymphoid stem cells",
"congenital aplastic anemia (Blackfan-Diamond)",
"Gaucher's disease",
"congenital agranulocytosis Kostmann",
"chronic granulomatous disease"
] | null | null | [
"transplantation of normal allogeneic bone marrow",
"transplanted",
"busulfan, cyclophosphamide and total nodal irradiation as preparatory regimen",
"Total nodal irradiation and cyclophosphamide",
"immunosuppressive agents",
"hematopoietic ablation"
] | null | null | null |
gaucher:1822493 | [Gaucher's disease and pregnancy]. | [
"Gaucher's disease is rare in association with pregnancy (we have only found 53 cases of women with this disease who had at least one pregnancy since 1945). A review of literature on this subject and this one case confirms that it is unlikely that the disease will progress as far as the symptomatology is concerned ... | [
"<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",
"pregnancy",
"pregnancy",
"Pregnancy"
] | null | [
"coagulation defects such as bleeding, particularly post-partum from the genital organs",
"Mechanical difficulties",
"greatly enlarged spleen"
] | null | null | [
"thrombocytopenia"
] | [
"obstetric or fetal complications",
"not contra-indicated"
] |
gaucher:1817041 | Norrbottnian type of Gaucher disease--clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation. | [
"The Norrbottnian type of Gaucher disease is a well defined nosological entity with a characteristic course and clinical manifestations. The disease is caused by a deficiency of the enzyme glucosylceramidase (cerebroside-beta-glucosidase). Studies of genomic DNA and cDNA encoding the enzyme show a single base subst... | [
"<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 Norrbottnian type of Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"Norrbottnian type of Gaucher disease"
] | [
"single base substitution in exon 10"
] | [
"severe symptoms from skeleton and CNS"
] | [
"Early splenectomy",
"Bone marrow transplantation",
"beneficial enzyme replacement therapy"
] | [
"Norrbottnian"
] | [
"deficiency of the enzyme glucosylceramidase (cerebroside-beta-glucosidase)"
] | null |
gaucher:1718128 | Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings. | [
"Clinical, neurochemical and neuropathological findings on a case of late-infantile Gaucher disease with oculomotor apraxia, progressive myoclonus and prominent bulbar signs are reported. There was a marked increase in glucosylceramide in cerebral cortex and cerebellum; the increase was more in the range of that se... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Clinical, neurochemical and neuropathological findings on 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 late-infantile\n <span style=\"font-si... | [
"Gaucher disease",
"type II Gaucher disease",
"type II Gaucher disease",
"Norrbottnian type III",
"type II and type III",
"neuronopathic Gaucher disease"
] | null | [
"oculomotor apraxia",
"progressive myoclonus",
"prominent bulbar signs",
"Cerebral cortical changes",
"cerebellum",
"focal severe loss of granule cells",
"Milder changes were seen in thalamus and brain stem",
"cerebral cortical changes",
"changes in the dentate nucleus were more severe",
"neuropat... | null | null | null | null |
gaucher:2286024 | Light microscopic and ultrastructural study on CNS lesions in infantile Gaucher's disease. | [
"We report on the light microscopic and ultrastructural CNS findings and the clinical course in a boy with infantile Gaucher's disease who died at 6 1/2 months. Besides the morphological alterations described in the literature, like perivascular Gaucher cells and nerve cell loss, our case was characterized by an un... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on 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 light microscopic and ultrastructural CNS\n <span style=\"font-size: 0.8em; font-weight: ... | [
"infantile Gaucher's disease"
] | null | [
"died",
"morphological alterations"
] | null | null | null | [
"no storage was detected"
] |
gaucher:2148173 | Annulo-aortic ectasia with DeBakey type II dissecting aneurysm in Gaucher's disease. | [
"Annulo-aortic ectasia is an extremely rare complication of Gaucher's disease. We report successful surgery in a patient with Gaucher's disease complicated by annulo-aortic ectasia and aortic dissection. Cabrol's operation was accomplished without bleeding or sternal adaptation problems."
] | [
"<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 Annulo-aortic ectasia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"Annulo-aortic ectasia",
"annulo-aortic ectasia",
"aortic dissection"
] | [
"successful surgery",
"Cabrol's operation"
] | null | null | [
"without bleeding or sternal adaptation problems"
] |
gaucher:2392937 | Gaucher's disease type I. Report of a case with prominent deposition of ceroid in splenic endothelial cells and intestinal smooth muscle fibers. | [
"A case of type I Gaucher's disease in a 39-year-old male is reported. Autopsy showed marked enlargement of the spleen (3,070 g) and infiltration of typical Gaucher's cells in the spleen, liver, bone, marrow, gastrointestinal tract, lymph nodes and adrenal glands. The diagnosis of Gaucher's disease was ascertained ... | [
"<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 type I Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"type I Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease",
"brown bowel syndrome"
] | null | [
"marked enlargement of the spleen (3,070 g)"
] | null | null | [
"very low beta-glucosidase activity of cultured subcutaneous fibroblasts",
"severe vitamin E deficiency",
"deficient activity of a lysosomal enzyme"
] | [
"other symptoms of vitamin E deficiency were not noticed"
] |
gaucher:2373338 | [Gaucher disease and pregnancy]. | [
"Up to date, initial or recurrent pregnancy has been reported in 46 patients suffering from Gaucher's disease. In the present review of the literature, potential complications and therapeutic concepts are outlined and a case report of a 22-year-old primipara is presented."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Up to date, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n initial or recurrent pregnancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Gaucher's disease"
] | null | [
"initial or recurrent pregnancy"
] | null | null | null | null |
gaucher:1974409 | Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution. | [
"In an earlier survey of the glucocerebrosidase locus using 20 restriction enzymes and a 1039 bp probe we found that 1 of 9 Gaucher disease patients had a unique pattern with KpnI. a pattern that was not observed in any other Gaucher patient or in 31 controls. We have now localized the mutation in this patient to a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In an earlier survey 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 glucocerebrosidase locus\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"Gaucher disease",
"Gaucher",
"Gaucher disease",
"Gaucher disease"
] | [
"to a T----A transversion in nucleotide 764 of the cDNA occurring on one of the two glucocerebrosidase alleles",
"presumed abnormality in the other allele has not been identified",
"deduced amino-acid change in the allele with the mutation at nucleotide 764 is a relatively drastic alteration of amino acid 255 f... | null | null | null | null | null |
gaucher:2349880 | Rapidly progressive type III Gaucher disease: deterioration following partial splenectomy. | [
"Total splenectomy has been found to accelerate disease progression in Type III Gaucher disease, therefore partial splenic resection was performed in a 28 month old girl with rapidly progressive (non-Norrbottnian) Type III disease to alleviate the effects of hypersplenism. Surgery failed to arrest the disease proce... | [
"<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 Total splenectomy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Type III Gaucher disease",
"rapidly progressive (non-Norrbottnian) Type III disease",
"rapidly progressive Type III Gaucher disease"
] | null | [
"splenomegaly recurred"
] | [
"Total splenectomy",
"partial splenic resection",
"total nor partial splenectomy"
] | null | [
"hypersplenism",
"erythrocyte glucosylceramide level increased",
"-operatively"
] | [
"Surgery failed to arrest the disease process",
"splenectomised Norrbottnian"
] |
gaucher:2340694 | Skeletal complications of type I Gaucher disease: the magnetic resonance features. | [
"Abnormalities on magnetic resonance imaging (MRI) are reported in six individuals with various skeletal complications of type I Gaucher disease. The changes were a nonhomogeneous reduction in both T1 and T2 marrow signals with increased T2 signals during avascular episodes. MRI proved an excellent technique for th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Abnormalities on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n magnetic resonance imaging (MRI)\n <span style=\"font-size: 0.8em; font-weight: bold; lin... | [
"type I Gaucher disease",
"Type I Gaucher disease",
"pseudo-osteomyelitis",
"skeletal disease"
] | null | [
"skeletal complications",
"nonhomogeneous reduction in both T1 and T2 marrow signals with increased T2 signals during avascular episodes",
"bone marrow changes",
"avascular complications",
"avascular necrosis of femoral heads",
"bone pain",
"pseudo-osteomyelitis"
] | [
"splenectomy"
] | null | null | [
"pyogenic osteomyelitis"
] |
gaucher:2308952 | Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. | [
"Enzyme replacement has been under consideration as a therapeutic strategy for patients with Gaucher disease for more than two decades. Previous studies indicated that single injections of purified glucocerebrosidase reduced the amount of storage material in the liver. It was important to determine whether administ... | [
"<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 Enzyme replacement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Gaucher disease",
"type 1 Gaucher disease",
"sphingolipid storage disorder"
] | null | [
"radiographic evidence of skeletal improvement"
] | [
"Enzyme replacement",
"single injections of purified glucocerebrosidase reduced the amount of storage material in the liver",
"administration of exogenous enzyme",
"weekly i.v. infusions of a macrophage-targeted preparation of human placental glucocerebrosidase",
"over a 20-week period",
"period of enzyme... | null | [
"increased hemoglobin from 6.9 +/- 0.8 g/dl (+/- 1 SD) to 10.2 +/- 0.4 g/dl (+/- 1 SD)",
"The platelet count also increased from a pretreatment value of 30,000 +/- 7000/mm3 (+/- 1 SD) to 54,000 +/- 11,000/mm3 (+/- 1 SD)"
] | null |
gaucher:2303995 | Ninety-five percent splenectomy for massive splenomegaly: a new surgical approach. | [
"Subtotal splenectomy for children with Gaucher's disease has been a major contribution. When spleens of massive size are mobilized for partial resection, it may be technically difficult to remove more than 80% to 85% and still maintain hilar blood supply. The short gastric vessels are enlarged in patients who have... | [
"<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 Subtotal splenectomy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher's disease"
] | null | [
"spleens of massive size",
"short gastric vessels are enlarged",
"marked splenomegaly"
] | [
"Subtotal splenectomy",
"mobilized for partial resection",
"remove more than 80% to 85%",
"support the 5% of remaining spleen",
"the upper pole of the spleen is retained",
"hemostasis",
"resection is performed closer to the center of the spleen"
] | null | null | [
"still maintain hilar blood supply"
] |
gaucher:2319738 | Autoimmune hemolytic anemia in Gaucher's disease. | [
"A 23-year-old Ashkenazi woman with Gaucher's disease developed Coombs-positive warm-type autoimmune hemolytic anemia. Treatment with high-dose steroids resulted in complete remission within 2 weeks. Study of an additional 72 patients with Gaucher's disease revealed another case of Coombs-positive warm-type autoimm... | [
"<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 23-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",
"autoimmune disorders",
"Gaucher's disease"
] | null | [
"complete remission"
] | [
"Treatment with high-dose steroids"
] | [
"Ashkenazi"
] | [
"Coombs-positive warm-type autoimmune hemolytic anemia",
"Coombs-positive warm-type autoimmune hemolytic anemia",
"Coombs-positive hemolytic anemia"
] | null |
gaucher:2309982 | Pulmonary hypertension and Gaucher's disease: logical association or mere coincidence? | [
"A 17-year-old boy with Gaucher's disease died suddenly 2 days after femoral osteotomy. At autopsy, in addition to extensive infiltrates of Gaucher cells in the cirrhotic liver, lymph nodes, and bone marrow, there were high-grade pulmonary arterial hypertensive changes but virtually no Gaucher cells in the lung. Al... | [
"<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; ... | [
"Gaucher's disease"
] | null | [
"died",
"suddenly",
"high-grade pulmonary arterial hypertensive changes",
"pulmonary hypertension"
] | [
"femoral osteotomy"
] | null | [
"circulating vasoactive substance",
"liver"
] | [
"virtually no Gaucher cells in the lung"
] |
gaucher:2295698 | A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. | [
"The molecular diagnosis of Gaucher disease has been difficult due to the existence of several different point mutations in the glucocerebrosidase gene and due to the presence of a tightly linked, highly homologous pseudogene. We now report the occurrence of a \"Lepore-like\" glucocerebrosidase fusion gene in which... | [
"<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 molecular diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Gaucher disease",
"Gaucher disease",
"storage disease"
] | [
"several different point mutations in the glucocerebrosidase gene",
"tightly linked, highly homologous pseudogene",
"\"Lepore-like\" glucocerebrosidase fusion gene in which the 5' end is the functional gene and the 3' end is the pseudogene",
"glucocerebrosidase gene complex"
] | null | null | null | null | null |
gaucher:2485713 | A further case of Gaucher's disease in a black Zimbabwean. | [
"We present a further case of Gaucher's disease in a 23 year old black Zimbabwean woman treated in Bulawayo. The patient underwent a splenectomy for hypersplenism due to massive splenomegaly. The patient did well post-operatively and has continued to honour her outpatient follow-up appointments. At the last review,... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a further 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 | [
"massive splenomegaly",
"continues to enjoy good health"
] | [
"splenectomy",
"post-operatively",
"splenectomy"
] | [
"black Zimbabwean",
"Bulawayo"
] | [
"hypersplenism"
] | [
"no family history suggestive of Gaucher's disease"
] |
gaucher:2685891 | Focal changes of the spleen in one case of Gaucher disease--assessed by ultrasonography, CT, MRI and angiography. | [
"Focal lesions of the spleen in one case of Gaucher disease are demonstrated by ultrasonography, CT, MRI and angiography. The sonographic and angiographic features differ from the findings presented in previous reports. The Gaucher manifestations in the spleen as demonstrated by CT, do not seem to have been reporte... | [
"<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 Focal lesions of the spleen\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Gaucher disease"
] | null | [
"Focal lesions of the spleen",
"targetlike configuration of the focal lesions"
] | null | null | null | [
"not disclose any focal abnormalities"
] |
gaucher:2623978 | [Bone changes in Gaucher disease]. | [
"Among Ashkenazi-Jews, Gaucher' disease, an autosomal-recessive hereditary genetic defect of sphingolipid metabolism, occurs more frequently than in the general population. Because of lack of the specific b-glucosidase, glucocerebrosidase, there is increased deposition of glucocerebrosides in the reticulo-endotheli... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Among \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Ashkenazi-Jews\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher' disease",
"chronic adult form",
"type 1)",
"purulent osteomyelitis",
"pseudo-osteomyelitis",
"bursitis"
] | [
"autosomal-recessive hereditary genetic defect of sphingolipid metabolism"
] | [
"hematologic complications",
"splenomegaly",
"involvement of the skeletal system",
"rheumatologic and orthopedic problems",
"nonspecific skeletal and joint pain",
"aseptic necrosis of the femoral head",
"pathologic fractures of the long bones",
"acutely occurring kyphosis secondary to pathologic verte... | [
"purely symptomatic",
"conservative treatment",
"splenectomy",
"hematologic"
] | [
"Ashkenazi-Jews"
] | [
"lack of the specific b-glucosidase, glucocerebrosidase"
] | null |
gaucher:2615292 | Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder. | [
"A report is presented based on the biochemical and immunochemical studies of various tissues from a 15-year-old boy with a neuronopathic form of Gaucher's disease. Qualitative and quantitative lipid analyses revealed a storage of glucosylceramide. The striking feature was that, employing the usual assay methods, a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A report is presented based on 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 biochemical and immunochemical studies of various tissues\n <span style... | [
"neuronopathic form of Gaucher's disease",
"atypical Gaucher's"
] | null | null | null | null | [
"absence of A1 activator protein, which is necessary for the enzyme degradation of glucosylceramide in vivo",
"glucosylceramide activator protein deficiency"
] | [
"normal activity of the lysosomal enzyme glucosylceramidase was revealed",
"despite massive lipid accumulation"
] |
gaucher:2514102 | Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses. | [
"We describe a patient who presented shortly after birth with hyperkinetic behaviour, myoclonia, respiratory insufficiency and hepatosplenomegaly. Gaucher-like storage cells were found in bone marrow. A liver biopsy showed massive lysosomal storage morphologically different to that in known lipid storage disorders.... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a patient who presented shortly after \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n birth\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"SAP deficiency"
] | null | [
"hyperkinetic behaviour",
"myoclonia",
"respiratory insufficiency",
"hepatosplenomegaly",
"died"
] | null | null | [
"partial deficiencies of beta-galactocerebrosidase, beta-glucocerebrosidase and ceramidase in skin fibroblast extracts",
"profound defect in ceramide catabolism",
"total absence of cross-reacting material to sphingolipid activator protein 2 (SAP-2)",
"defect at the level of SAP-2"
] | [
"sphingomyelinase activity was normal"
] |
gaucher:2794720 | Aseptic necrosis of the capitate secondary to Gaucher's disease: a case report. | [
"We report a case with aseptic necrosis of the capitate in a young patient with Gaucher's disease and no fracture of the carpus. The value of technetium bone scintigraphy and computer tomographic scanning are discussed."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case 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 aseptic necrosis of the capitate\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"Gaucher's disease"
] | null | [
"aseptic necrosis of the capitate"
] | null | null | null | [
"no fracture of the carpus"
] |
gaucher:2671874 | Pseudo-osteomyelitis in Gaucher's disease. | [
"Gaucher's disease is an uncommon lipid storage disease sometimes associated with bone pain that can mimic an acute pyarthrosis or osteomyelitis. A case report with two incidences of pseudo-osteomyelitis with two-year follow-up is presented along with a literature review. Recommendations for evaluation and differen... | [
"<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",
"lipid storage disease",
"osteomyelitis",
"pseudo-osteomyelitis",
"true infection"
] | null | [
"bone pain",
"acute pyarthrosis"
] | [
"or drainage"
] | null | null | null |
gaucher:2738830 | Gaucher disease: fate of the splenic remnant after partial splenectomy--a case of rapid enlargement. | [
"In Gaucher disease, partial splenectomy has been suggested for alleviating the complications of splenomegaly as well as for avoiding the immunologic compromise and potential acceleration of bony and hepatic involvement that may follow total splenic resection. However, the fate of the splenic remnant has been repor... | [
"<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 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Gaucher disease",
"rapidly progressing Gaucher disease",
"Gaucher",
"Gaucher disease"
] | null | [
"splenomegaly",
"immunologic compromise",
"potential acceleration of bony and hepatic involvement",
"massive splenomegaly (12% of body weight)",
"the splenic remnant had increased four-fold in size",
"significant enlargement of the splenic remnant",
"splenomegaly"
] | [
"partial splenectomy",
"total splenic resection",
"subtotal splenectomy (85%)",
"partial splenectomy",
"partial splenectomy"
] | null | null | null |
gaucher:2712947 | Oculomotor apraxia: the presenting sign of Gaucher disease. | [
"Oculomotor apraxia may be idiopathic or a symptom of a variety of diseases. In Gaucher disease, oculomotor deficit is characterized by a failure of volitional horizontal gaze with preservation of vertical movements. We present 2 sisters, 6 1/2 and 5 1/2 years of age, in whom the presenting sign was oculomotor apra... | [
"<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 Oculomotor apraxia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"idiopathic",
"Gaucher disease",
"Gaucher disease"
] | null | [
"Oculomotor apraxia",
"oculomotor deficit",
"oculomotor apraxia",
"Oculomotor apraxia"
] | null | null | null | [
"failure of volitional horizontal gaze",
"preservation of vertical movements"
] |
gaucher:2909088 | Spinal cord compression in type I Gaucher disease. | [
"Three patients with epidural compression of the spinal cord, a rare but serious complication of type I Gaucher disease, are described. In two cases the compression occurred at the lower thoracic region due to collapse of T-11 and T-12, respectively. In the third case, an epidural mass developed at the dorsal aspec... | [
"<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 epidural compression of the spinal cord\n <span style=\"font-size: 0.8em; font-weight:... | [
"type I Gaucher disease"
] | null | [
"epidural compression of the spinal cord",
"compression occurred at the lower thoracic region",
"collapse of T-11 and T-12",
"epidural mass developed at the dorsal aspect of the cord at T-2",
"T-2 and T-3 showed diffuse infiltration without collapse"
] | null | null | null | null |
gaucher:2799546 | [Splenic artery aneurysm in a patient with Gaucher's disease]. | [
"We present a 31-year-old woman suffering from Gaucher's disease in whom during splenectomy a big splenic artery aneurysm was found, 5 x 3.5 cm in diameters; it was due to hypersplenism and compression of the enlarged spleen. In a huge spleen 43 cm in length and 5420 grams in weight, many deposits of glycocerebrosi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present 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 31-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Gaucher's disease",
"calculous cholecystitis"
] | null | [
"big splenic artery aneurysm was found, 5 x 3.5 cm in diameters",
"compression of the enlarged spleen",
"huge spleen 43 cm in length",
"5420 grams in weight"
] | [
"splenectomy",
"Cholecystectomy"
] | null | [
"hypersplenism"
] | null |
gaucher:2757345 | [Splenectomy in Gaucher's disease. Apropos of 2 cases, one of which was preceded by embolization]. | [
"Two cases of Gaucher's disease type I are reported Splenectomy was indicated because of hypersplenism and massive splenomegaly. In one case hypersplenism was treated with pre-operative selective embolization because of the volume of the spleen (20 kg). The embolization corrected the thrombopenia but not the size o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two cases 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 type I\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Gaucher's disease type I"
] | null | [
"massive splenomegaly",
"improvement in the clinical status"
] | [
"Splenectomy",
"pre-operative selective embolization",
"embolization"
] | null | [
"hypersplenism",
"hypersplenism",
"corrected the thrombopenia"
] | [
"but not the size of the spleen"
] |
gaucher:2636243 | [A case of Gaucher's disease associated with peripheral retinal ischemia]. | [
"A 24 years old girl affected by Gaucher's disease showed a wide peripheral retinal vascular ischemia with new vessel. This could be either a fortuitous association between a Gaucher's disease and Eales' syndrome or an ocular complication of Gaucher's disease not previously described. A symptomatic panretinalphotoc... | [
"<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 24 years old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Gaucher's disease",
"Gaucher's disease and Eales' syndrome",
"ocular complication",
"Gaucher's disease"
] | null | [
"wide peripheral retinal vascular ischemia with new vessel",
"new vessels involution"
] | [
"symptomatic panretinalphotocoagulation"
] | null | null | null |
gaucher:2609278 | [Gaucher's disease and pregnancy]. | [
"The authors describe a female patient with a chronic pattern of Gaucher's disease which remained unrecognized for a long time. Pregnancy was noted to affect the disease progress and development of liver cellular failure as well as the hemorrhagic syndrome. Splenectomy gave rise to a stable disease remission follow... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors describe 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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"chronic pattern of Gaucher's disease"
] | null | [
"Pregnancy",
"liver cellular failure",
"hemorrhagic syndrome",
"normal pregnancy and delivery"
] | [
"Splenectomy",
"stable disease remission"
] | null | null | [
"remained unrecognized for a long time"
] |
gaucher:3220804 | Histiocytic diseases of bone marrow. | [
"The disease most likely to be associated with large numbers of bone marrow storage histiocytes is Gaucher's disease. In our community of western Pennsylvania, eastern Ohio, and West Virginia, we have encountered 30 patients with Gaucher's disease during the past 25 years. During the same 25 years, a group of about... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The disease most likely to be associated 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 large numbers of bone marrow storage histiocytes\n <span sty... | [
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease"
] | null | null | null | [
"western Pennsylvania",
"eastern Ohio",
"West Virginia"
] | null | null |
gaucher:3266053 | [Gaucher disease and pregnancy]. | [
"Two pregnancies in a patient with Gaucher's disease type I are reported. Anemia and thrombocytopenia were augmented during pregnancy, but no effect on the spleen and liver was observed. The first delivery was associated with a severe post partum haemorrhagia (platelet count 56,000/mcl, hemoglobin before delivery 1... | [
"<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 pregnancies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"pregnancies",
"Gaucher's disease type I",
"pregnancy",
"pregnancy",
"Gaucher's disease"
] | null | [
"severe post partum haemorrhagia (platelet count 56,000/mcl, hemoglobin before delivery 10.2 g/100 ml, postpartum 5.5 g/100ml)",
"Post partum haemorrhagia"
] | [
"Platelet transfusions",
"induction of preterm labor",
"Platelet infusions",
"delivery"
] | null | [
"Anemia",
"thrombocytopenia",
"platelet count was 33,000/mcl",
"thrombopenia",
"platelet counts under 100,000/mcl",
"Thrombocytopenic"
] | [
"no effect on the spleen and liver was observed",
"no bleeding complications"
] |
gaucher:2972194 | Pseudo-Gaucher cells preceding the appearance of immunoblastic lymphoma. | [
"A 49-year-old white woman who presented with multiple lytic bone lesions was found to have Gaucher-like storage cells in multiple bone marrow aspirates and a percutaneous bone marrow biopsy several months before the development of overt disseminated lymphoma. Open bone biopsies of three different sites at initial ... | [
"<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 49-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"overt disseminated lymphoma"
] | null | [
"multiple lytic bone lesions"
] | null | [
"white"
] | [
"Elevated leukocyte beta-glucocerebrosidase levels"
] | [
"nondiagnostic polymorphic infiltrate",
"ruled out the diagnosis of classic Gaucher's disease",
"non-Hodgkin's lymphoma"
] |
gaucher:3194992 | An immunoelectron microscopic study of glucocerebrosidase in type 1 Gaucher's disease spleen. | [
"An immunogold labeling procedure was applied to ultrathin cryosections and used to study the subcellular localization of glucocerebrosidase in lipid-laden \"Gaucher cells\" in spleen from a patient with type 1 Gaucher's disease. Glucocerebrosidase protein was associated with the characteristic stored lipid materia... | [
"<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 immunogold labeling procedure\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"type 1 Gaucher's disease"
] | null | null | null | null | null | [
"the activity of the mutant enzyme was insufficient to prevent storage of glucocerebroside in the spleen"
] |
gaucher:3412137 | [Scintigraphic picture in Gaucher's disease]. | [
"The paper is devoted to analysis of the results of combined radionuclide investigation of the liver, spleen, kidneys, lymph nodes and bones in a patient with Gaucher's disease. Scintigraphy was shown to be an important method for making correct diagnosis in patients with this rare disease."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The paper is devoted to analysis of 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 combined radionuclide investigation of the liver, spleen, ... | [
"Gaucher's disease",
"rare disease"
] | null | null | null | null | null | null |
gaucher:3415310 | Collodion babies with Gaucher's disease. | [
"Two neonates with acute infantile cerebral Gaucher's disease had prominent collodion skin. Ichthyosis has been described in some cases of metabolic lipid disorders, however, this is the first report of the association of lamellar desquamation of the newborn (collodion baby) with Gaucher's disease."
] | [
"<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 neonates\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"acute infantile cerebral Gaucher's disease",
"metabolic lipid disorders",
"Gaucher's disease"
] | null | [
"prominent collodion skin",
"Ichthyosis",
"lamellar desquamation of the newborn (collodion baby)"
] | null | null | null | null |
gaucher:3408844 | Proximal humeral defects in Gaucher's disease. | [
"Defects in the medial aspect of the proximal humeral metaphysis of two patients with Gaucher's disease are reported and their aetiology discussed. Similar cortical irregularities have been described as a normal variant in children and their presence in patients with an infiltrative disorder suggested as being coin... | [
"<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 Defects in the medial aspect of the proximal humeral metaphysis\n <span style=\"font-size: 0.8em; font-wei... | [
"Gaucher's disease",
"infiltrative disorder",
"Gaucher's disease",
"idiopathic scoliosis"
] | null | [
"Defects in the medial aspect of the proximal humeral metaphysis",
"cortical irregularities",
"bilateral pathological fractures of the proximal humeri",
"defect of the proximal humeral metaphysis",
"subtle abnormalities in the underlying bone"
] | null | null | null | null |
gaucher:3262475 | Scintigraphic and magnetic resonance studies in a patient with Gaucher's disease. | [
"In-111 chloride imaging was used in the evaluation of a patient with Type I Gaucher's disease before splenectomy for pancytopenia. This case is the first report of its use in this clinical setting. The image demonstrated the presence of adequate marrow reserve, thereby suggesting that the pancytopenia was due to h... | [
"<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 In-111 chloride imaging\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Type I Gaucher's disease"
] | null | [
"acute pain in the left knee",
"left lateral tibial plateau fracture"
] | [
"splenectomy",
"splenectomy"
] | null | [
"pancytopenia",
"pancytopenia",
"hypersplenism",
"marrow replacement",
"Normalization of blood counts"
] | [
"was not seen on plain radiographs or magnetic resonance imaging"
] |
gaucher:3134756 | Long-term follow-up of the first successful bone marrow transplantation in Gaucher disease. | [
"A 9-year-old girl with juvenile Gaucher disease underwent splenectomy and allogeneic bone marrow transplantation. Her HLA-identical brother with normal cerebroside-beta-glucosidase activity served as donor. One month after transplantation, cerebroside-beta-glucosidase activity in the lymphocytes were normal. Plasm... | [
"<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 9-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"juvenile Gaucher disease"
] | null | [
"enlarged liver normalized in size",
"grown 29 cm",
"slight obstructive ventilatory impairment",
"chest deformities have appeared",
"Wechsler intelligence scale performance has slowly decreased"
] | [
"splenectomy",
"allogeneic bone marrow transplantation",
"transplantation",
"splenectomy",
"marrow transplantation",
"transplantation",
"transplantation",
"transplantation",
"transplantation",
"bone marrow transplantation"
] | null | [
"Plasma glucosylceramide normalized",
"further decreased"
] | [
"cerebroside-beta-glucosidase activity in the lymphocytes were normal",
"Glucosylceramide in the erythrocytes was normal"
] |
gaucher:3396289 | Nodular sclerosing Hodgkin's disease in association with Gaucher's disease. | [
"Gaucher's disease has been described in association with a number of disorders of the lymphoreticular system. The patient described in this report developed Hodgkin's disease after treatment in childhood for Gaucher's disease. A possible pathogenetic link between the two disorders is discussed, together with the 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 Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"disorders of the lymphoreticular system",
"Hodgkin's disease",
"Gaucher's disease"
] | null | null | [
"treatment in childhood"
] | null | [
"ferritinaemia"
] | null |
gaucher:3385740 | Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family. | [
"Glucocerebroside beta-glucosidase (glucocerebrosidase) activity was determined from peripheral blood lymphocytes and cultured skin fibroblasts of eight full sibs in a French-Canadian family at risk for Gaucher disease, an autosomal recessive sphingolipidosis resulting from deficient glucocerebrosidase activity. 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 Glucocerebroside beta-glucosidase (glucocerebrosidase) activity was determined from peripheral blood lymphocy... | [
"sphingolipidosis",
"type 1, non-neuronopathic Gaucher disease",
"type 1 Gaucher disease"
] | [
"autosomal recessive",
"variable expressions of the same Gaucher mutant alleles",
"multiple mutant alleles"
] | [
"mildly affected",
"haematological complications",
"severe orthopaedic complications associated with Gaucher disease",
"vertebral compression",
"avascular necrosis",
"pathological fracture of the long bones"
] | [
"splenectomy 24 years ago"
] | [
"French-Canadian"
] | [
"Glucocerebroside beta-glucosidase (glucocerebrosidase) activity was determined from peripheral blood lymphocytes and cultured skin fibroblasts",
"deficient glucocerebrosidase activity",
"deficient (7.5 to 15.5% of control mean) glucocerebrosidase activity",
"intermediate level (about 50% of control mean) of ... | [
"absence of neurological involvement",
"Normal levels of enzyme activity",
"asymptomatic sibs",
"not developed any orthopaedic complications associated with Gaucher disease"
] |
gaucher:2837134 | Infantile Gaucher's disease: a case with neuronal storage. | [
"The brain of a 17-month-old boy with infantile Gaucher's disease and oculomotor apraxia was studied by light and electron microscopy. Light microscopic examination showed large perivascular accumulations of Gaucher's cells in frontal lobe white matter, severe neuronal loss in the calcarine cortex and dentate nucle... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The brain 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 17-month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"infantile Gaucher's disease"
] | null | [
"oculomotor apraxia",
"severe neuronal loss in the calcarine cortex and dentate nucleus of the cerebellum"
] | null | null | null | null |
gaucher:3355033 | [Gaucher's disease of the 3d type (juvenile form)]. | [
"A case of Gaucher's disease, juvenile type is presented. Disease manifested with signs of hepatosplenomegaly, and thrombocytopenia. The typical Gaucher's cells were found in bone marrow aspiration. Acid phosphatase levels were 1.74 U. Bessey-Lowry/ml, 80.45% corresponding to the non-prostatic fraction. The enzymat... | [
"<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 Gaucher's disease, juvenile type\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Gaucher's disease, juvenile type"
] | null | [
"hepatosplenomegaly"
] | null | null | [
"thrombocytopenia",
"Acid phosphatase levels were 1.74 U. Bessey-Lowry/ml, 80.45% corresponding to the non-prostatic fraction",
"enzymatic activity of glucosyl ceramide-beta-glucosidase",
"value of 0.42 mU/mg of protein (control: 3.2 mU/mg of protein)"
] | null |
gaucher:3276344 | Gaucher's disease involving the maxillary sinuses. | [
"A 46-year-old man with a long history of Gaucher's disease involving the spleen, bone marrow, and multiple bones presented with apparent sinusitis. He had radiologic opacification and histologically documented involvement by Gaucher's disease of the maxillary antra. Bony involvement of the mandible and maxilla has... | [
"<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 46-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher's disease"
] | null | [
"apparent sinusitis",
"radiologic opacification",
"Bony involvement of the mandible and maxilla",
"paranasal sinus involvement"
] | [
"long history of Gaucher's disease involving the spleen, bone marrow, and multiple bones"
] | null | null | null |
gaucher:3408371 | [Infantile type of Niemann-Pick disease with developmental defects of the central nervous system]. | [
"Clinical and morphologic manifestations of a rare disease developing, as a rule, in early life--an infantile variant of Niemann-Pick disease--are illustrated with a fatal case of a 6.5-month-old child. The diagnosis was established histochemically using, in particular, Smith-Dietrich method which provided differen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Clinical and morphologic manifestations of a rare disease developing, as a rule, 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 early life\n <span sty... | [
"infantile variant of Niemann-Pick disease",
"cerebroside lipidosis (Gaucher's disease)"
] | null | [
"enlargement of the liver, spleen and lymph nodes",
"cerebral and adrenal affection",
"true porencephalia"
] | null | null | null | null |
gaucher:3189427 | Nephrotic syndrome and renal failure associated with a novel glycolipid storage disorder. | [
"A 57-year-old Caucasian male presented with severe nephrotic syndrome and diffuse organomegaly; he subsequently developed renal failure and died. Intracellular, crystalloid material was identified by light and electron microscopy in bone marrow, liver, spleen, mesenteric lymph nodes, and kidneys. Tissue extraction... | [
"<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 57-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher's disease cannot be completely excluded",
"multisystem process"
] | null | [
"severe nephrotic syndrome",
"diffuse organomegaly",
"renal failure",
"died",
"renal insufficiency",
"death"
] | null | [
"Caucasian"
] | null | [
"glycolipid profiles do not conform to those of known storage disorders"
] |
gaucher:3502268 | [Sternocostoclavicular hyperostosis. Nosological concepts]. | [
"The term sternocostoclavicular hyperostosis groups affections of different pathogenicity. These result from an ossifying enthesiopathy, either inflammatory, isolated to the thoracic wall anteriorly or combined with a spondylarthropathy, particularly ankylosing spondylitis, or degenerative, the anterior thoracic hy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The term \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n sternocostoclavicular hyperostosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"ossifying enthesiopathy",
"spondylarthropathy",
"ankylosing spondylitis",
"degenerative",
"inflammatory osteopathy"
] | null | [
"sternocostoclavicular hyperostosis",
"inflammatory, isolated to the thoracic wall anteriorly",
"anterior thoracic hyperostosis",
"ensheathing vertebral hyperostosis",
"anterior thoracic hyperostosis",
"other bone lesions of pelvis and spine or long bones"
] | null | null | null | null |
gaucher:3319001 | Regression of the radiological changes of Gaucher's disease following bone marrow transplantation. | [
"Seven children with Type I Gaucher's disease have been treated with bone marrow transplantation (BMT). One patient died from the complications of BMT. In five patients computed tomography (CT) of the femora showed initially high attenuation in the marrow, returning towards normal after successful BMT. One of these... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 children\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Type I Gaucher's disease"
] | null | [
"died from the complications of BMT",
"initially high attenuation in the marrow, returning towards normal",
"clearing of pulmonary infiltrates",
"return to normal shape of her femora 21/2 years after BMT"
] | [
"bone marrow transplantation (BMT)",
"BMT",
"BMT"
] | null | null | [
"no pre-transplant CT measurements were carried out"
] |
gaucher:3425305 | Gaucher disease: treatment of hypersplenism with splenic embolization. | [
"Hypersplenism is a frequent complication of Gaucher disease requiring splenectomy. A patient with Gaucher disease and severe hypersplenism was treated with partial splenic embolization to avoid the increased risk of serious infectious complications and deterioration of the disease associated with splenectomy. A fi... | [
"<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 Hypersplenism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher disease",
"Gaucher disease",
"Gaucher disease"
] | null | [
"serious infectious complications",
"deterioration of the disease",
"persisting abdominal discomfort",
"failure to thrive",
"signs of hypersplenism",
"normal growth"
] | [
"splenectomy",
"partial splenic embolization",
"splenectomy",
"first embolization (25% ablation)",
"second embolization (40-50% ablation)",
"partial splenic embolization",
"splenectomy"
] | null | [
"Hypersplenism",
"severe hypersplenism",
"maintains normal haematologic parameters"
] | [
"free of symptoms",
"no skeletal abnormalities",
"No serious infections",
"size of the liver and the spleen has not changed appreciably"
] |
gaucher:3482129 | Adult Gaucher disease in association with acute leukaemia. | [
"A non-Jewish patient diagnosed as having Gaucher disease at the age of 67 is described. Fourteen months after presentation he was diagnosed as having acute myeloid leukaemia. A possible association between Gaucher disease and acute myeloid leukaemia is suggested."
] | [
"<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 non-Jewish\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Gaucher disease",
"acute myeloid leukaemia",
"Gaucher disease",
"acute myeloid leukaemia"
] | null | null | null | [
"non-Jewish"
] | null | null |
gaucher:3658134 | Spinal cord decompression for Gaucher's disease. | [
"We report an individual with Type I nonneuronopathic Gaucher's disease who experienced the rare complication of spinal cord compression secondary to a sclerotic vertebral fracture. He successfully underwent anterolateral spinal cord decompression and spinal fusion despite the severity of his generalized skeletal d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report an individual 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 I nonneuronopathic Gaucher's disease\n <span style=\"font-size: 0.8em; f... | [
"Type I nonneuronopathic Gaucher's disease"
] | null | [
"spinal cord compression secondary to a sclerotic vertebral fracture",
"generalized skeletal disease"
] | [
"anterolateral spinal cord decompression and spinal fusion"
] | null | null | null |
gaucher:3592812 | Partial splenectomy for Gaucher's disease. | [
"Gaucher's disease is an autosomal recessive disorder caused by deficiency of beta glucocerebrosidase, resulting in an accumulation of glucocerebroside in the reticuloendothelial system. These patients have massive splenomegaly and bone pain, but may have normal life expectancy. Traditionally, splenectomy has been ... | [
"<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"
] | [
"autosomal recessive disorder"
] | [
"massive splenomegaly",
"bone pain",
"postsplenectomy sepsis"
] | [
"splenectomy",
"partial splenectomy",
"90% splenectomy",
"the residual splenic fragment was wrapped in Vicryl mesh",
"Partial splenectomy"
] | null | [
"deficiency of beta glucocerebrosidase",
"hypersplenism",
"laboratory evidence of hypersplenism"
] | [
"normal life expectancy",
"asymptomatic",
"normal hematologic parameters"
] |
gaucher:2883444 | Beneficial effect of pre-transplant splenectomy on displacement bone marrow transplantation for Gaucher's syndrome. | [
"2 patients with fast and 4 with medium varieties of Gaucher's syndrome were treated by displacement bone marrow transplantation to install a donor enzyme factory for life. Immunoprophylaxis was given to prevent host impairment of normal enzymes. 5 patients showed rapid and remarkable improvement and were leading f... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">2 patients with fast and 4 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 medium varieties\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"medium varieties",
"Gaucher's syndrome"
] | null | [
"rapid and remarkable improvement",
"leading fully active lives",
"death",
"stormy time"
] | [
"displacement bone marrow transplantation",
"install a donor enzyme factory for life",
"Immunoprophylaxis",
"postgraft",
"Pre-transplant elective splenectomy"
] | null | [
"host impairment of normal enzymes",
"Hypersplenism"
] | null |
gaucher:3103422 | Pseudo-Gaucher cells in the bone marrow of a patient with Hodgkin's disease. | [
"The authors studied an 18-year-old woman with stage IIIB nodular sclerosis Hodgkin's disease whose bone marrow contained abnormal storage cells that resembled Gaucher cells by light microscopic examination (\"pseudo-Gaucher\" cells). Electron microscopic examination revealed that these cells differed from true Gau... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors studied 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 18-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"stage IIIB nodular sclerosis Hodgkin's disease"
] | null | [
"all signs of Hodgkin's disease"
] | [
"treatment with six monthly cycles of systemic chemotherapy (nitrogen mustard, vincristine, procarbazine, bleomycin, doxorubicin, and prednisone)"
] | null | [
"peripheral blood leukocyte beta-glucosidase and serum acid phosphatase levels were elevated",
"classical enzyme patterns for beta-glucosidase and acid phosphatase",
"overload of available beta-glucosidase"
] | [
"ruling out the diagnosis of inherited Gaucher's disease",
"Repeat leukocyte beta-glucosidase and serum acid phosphatase levels were unchanged"
] |
gaucher:3035864 | The varied clinical and laboratory manifestations of type II Gaucher's disease. | [
"An infant of Arab extraction with the Type II form of Gaucher's disease is described. His clinical presentation was unusual because in addition to the extensive neurological involvement and marked hepatosplenomegaly a severe congestive cardiomyopathy and renal tubular dysfunction were present. In addition, marked ... | [
"<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 infant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vert... | [
"Type II form of Gaucher's disease"
] | null | [
"extensive neurological involvement",
"marked hepatosplenomegaly",
"severe congestive cardiomyopathy",
"renal tubular dysfunction"
] | null | [
"Arab extraction"
] | [
"marked hypergammaglobulinemia",
"raised serum angiotensin converting enzyme levels"
] | null |
gaucher:3673038 | [Case report of Gaucher's disease]. | [
"The case of a 42 years old man suffering from Gaucher's disease is reported. The primary diagnosis was liver cirrhosis based on echographic and scintigraphic examinations. The following signs were found: thrombocytopenia, slight hemolysis, shortened life of the erythrocytes with considerable sequestration in the s... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The case 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 42 years old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Gaucher's disease",
"liver cirrhosis",
"adult form of Gaucher's disease",
"Gaucher's disease",
"liver cirrhosis"
] | null | [
"irregularly oval light spots with different size and form and well cut outlines in the skull",
"zone of bone resorption in the right shoulder joint",
"formation of septa"
] | null | null | [
"thrombocytopenia",
"slight hemolysis",
"abnormal flocculation tests",
"increased acid phosphatase"
] | null |
gaucher:3442155 | [Gaucher disease and pregnancy--a case report]. | [
"Reporting an own case the authors describe the unusual combination of Gaucher's Disease and pregnancy. They suggest with regard to the possibility of hepatic and/or lienal rupture in cases with extended hepatosplenomegaly the primary caesarean section."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Reporting an own case the authors describe 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 unusual combination of Gaucher's Disease and pregnancy\n <s... | [
"unusual combination of Gaucher's Disease and pregnancy"
] | null | [
"hepatic and/or lienal rupture",
"extended hepatosplenomegaly"
] | [
"primary caesarean section"
] | null | null | null |
gaucher:3306593 | Gaucher disease of the liver: CT appearance. | [
"We present a child with Gaucher disease with hepatic involvement that caused portal hypertension. Computerized tomography (CT) showed distortion of liver parenchyma and central necrosis of the liver."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present 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 child\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Gaucher disease"
] | null | [
"hepatic involvement",
"portal hypertension",
"distortion of liver parenchyma"
] | null | null | null | null |
gaucher:2958659 | Elevation of serum beta-hexosaminidase and alpha-D-mannosidase in type 2 Gaucher disease: a clinical and biochemical study. | [
"We report a case of a black infant who died at 9 months of age with clinical and pathological findings consistent with the acute neuronopathic form of Gaucher disease (Type 2). Analysis of peripheral blood platelets obtained from this child demonstrated very low levels of beta-glucosidase activity. beta-hexosamini... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case 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 black\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"acute neuronopathic form of Gaucher disease (Type 2)",
"chronic form of Gaucher disease (Type 1)",
"chronic Gaucher disease patients",
"Type 1 individuals",
"Type 2 Gaucher disease"
] | null | [
"died"
] | null | null | [
"very low levels of beta-glucosidase activity",
"beta-hexosaminidase (HEX) activity in the serum, however, was 30 times greater than the level in control sera and 15 times greater than the level observed",
"alpha-D-mannosidase (MANN) activity in the proband's serum was significantly elevated",
"elevation of t... | null |
gaucher:3782210 | Osteomyelitis in Gaucher disease. | [
"A relatively common complication of Gaucher disease, the so-called crisis, frequently is difficult to differentiate from acute osteomyelitis. We reviewed the cases of forty-nine patients with Gaucher disease who were treated at the Massachusetts General Hospital and found that eleven patients had required admissio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A relatively common complication 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 disease\n <span style=\"font-size: 0.8em; font-weight: bold; l... | [
"Gaucher disease",
"crisis",
"acute osteomyelitis",
"Gaucher disease",
"acute hematogenous osteomyelitis",
"osteomyelitis"
] | null | [
"acute symptom complex",
"infection",
"infection"
] | [
"admission to the hospital"
] | null | null | null |
gaucher:3706442 | Gaucher's disease in pregnancy associated with portal hypertension. | [
"A case is reported of Gaucher's disease in pregnancy associated with portal hypertension. Despite this rare and hazardous complication, the pregnancy, labor, and puerperium were uneventful."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case is reported 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-height: ... | [
"Gaucher's disease",
"pregnancy"
] | null | [
"portal hypertension",
"pregnancy"
] | null | null | null | [
"puerperium were uneventful"
] |
gaucher:3953630 | Gaucher's disease in a patient with chronic active hepatitis. | [
"Gaucher's disease, an inherited metabolic disorder, may cause hepatic fibrosis, but hepatic inflammation does not occur as part of the disorder. The case of an 18-year-old girl of Ashkenazic Jewish ancestry with chronic active hepatitis and coexistent Gaucher's disease is presented. The clinical course of remissio... | [
"<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",
"chronic active hepatitis",
"coexistent Gaucher's disease",
"\"autoimmune\" chronic active hepatitis",
"Gaucher's disease",
"idiopathic (\"autoimmune\") chronic hepatitis"
] | [
"inherited metabolic disorder"
] | [
"hepatic fibrosis",
"hepatic inflammation",
"remissions and exacerbations of the disease activity",
"prompt resolution of the chronic hepatitis"
] | [
"Steroid and immunosuppressive treatment"
] | [
"Ashkenazic Jewish ancestry"
] | [
"polyclonal gammopathy",
"hypergammaglobulinemia"
] | [
"coexistence of Gaucher's disease"
] |
gaucher:3946307 | Pseudogaucher cells in Mycobacterium avium intracellulare infections in acquired immune deficiency syndrome (AIDS). | [
"This report describes a 28-year-old woman with the acquired immune deficiency syndrome (AIDS) with culture-proven disseminated Mycobacterium avium intracellulare infection. The histopathologic and cytologic features in this case were unique in that these organisms that stained positively with the Ziehl-Neelsen and... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This report describes 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 28-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"acquired immune deficiency syndrome (AIDS)",
"culture-",
"disseminated Mycobacterium avium intracellulare infection",
"AIDS"
] | null | null | null | null | null | null |
gaucher:3466735 | Gaucher's disease associated with chronic lymphocytic leukaemia. | [
"The association of Gaucher's disease with chronic lymphocytic leukaemia (CLL) is very rare. To our knowledge only five cases have been reported (Chang-Lo, Yam & Rubenstone 1967; Chang-Lo et al. 1975; Fox et al. 1984; Lee 1982; Mark, Dominguez & Rywlin 1982). We report a patient with this association, the CLL had b... | [
"<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 association of Gaucher's disease with chronic lymphocytic leukaemia (CLL)\n <span style=\"font-size: 0... | [
"association of Gaucher's disease with chronic lymphocytic leukaemia (CLL)",
"CLL",
"Gaucher's disease"
] | null | null | null | null | null | null |
gaucher:3014212 | Enzyme activities and phospholipid storage patterns in brain and spleen samples from Niemann-Pick disease variants: a comparison of neuropathic and non-neuropathic forms. | [
"Phospholipid levels and enzyme activities were measured in brain and spleen samples from patients with the three major variants of Niemann-Pick disease. Accumulations of sphingomyelin and bis(monoacylglycero)phosphate were demonstrated in spleen from types A and B and group C Niemann-Pick disease, whereas only 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 Phospholipid levels and enzyme activities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Niemann-Pick disease",
"types A and B and group C Niemann-Pick disease",
"type A Niemann-Pick brain",
"group C Niemann-Pick brain and spleen",
"Niemann-Pick disease",
"group C Niemann-Pick brain",
"type B Niemann-Pick brain"
] | null | null | null | null | [
"Phospholipid levels and enzyme activities",
"Sphingomyelinase activity was markedly deficient",
"residual activity of approximately 12% of control",
"Significant (17% of control) residual beta-glucosidase activity was also measured",
"apparent Km (approximately 0.4 mmol/L)",
"activity peaks between pI 4.... | [
"Normal or raised sphingomyelinase and beta-glucosidase activities",
"Normal levels of neutral sphingomyelinase activity were measured in brain samples",
"Acid sphingomyelinase activity in group C Niemann-Pick brain appeared normal",
"No defect"
] |
gaucher:4075676 | Multiple plasmocytomas of the liver and the spleen. | [
"Imaging in a patient with multiple myeloma and Gaucher's disease showed space-occupying lesions in the liver and spleen. These were found to be plasmocytomas on histologic examination."
] | [
"<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 Imaging\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertic... | [
"multiple myeloma",
"Gaucher's disease"
] | null | [
"space-occupying lesions in the liver and spleen"
] | null | null | null | null |
gaucher:3876734 | Chemical shift imaging of bone marrow: preliminary experience. | [
"A phase-contrast method of chemical shift imaging was used to evaluate bone marrow in normal volunteers and in patients with metabolic, inflammatory, traumatic, and neoplastic disorders. Five normal volunteers were examined in order to obtain preliminary data on normal patterns of signal intensity in hematopoietic... | [
"<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 phase-contrast method of chemical shift imaging\n <span style=\"font-size: 0.8em; font-weight: bold; lin... | [
"metabolic",
"neoplastic disorders"
] | null | [
"traumatic",
"low signal intensity on phase-contrast images",
"increased signal intensity due to either accumulated lipid or water",
"high signal intensity on phase-contrast images",
"decreased phase-contrast signal intensity"
] | null | null | null | null |
gaucher:3903602 | Fat embolism and osteonecrosis. | [
"Clinical and experimental data accumulated within the past 2 decades explain the relationship between fat embolism and osteonecrosis, which now appears to be more causal than coincidental. Evidence for fatty liver, coalescence of endogenous plasma lipoproteins, and/or disruption of depot or marrow fat, all resulti... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Clinical and experimental data accumulated within the past 2 decades explain the relationship between \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n fat emb... | [
"osteonecrosis",
"osteonecrosis",
"pregnancy",
"carbon tetrachloride poisoning",
"Legg-Calvé-Perthes disease",
"osteonecrosis"
] | null | [
"fat embolism",
"continuous or intermittent fat embolism",
"Intraosseous fat embolism",
"three-phase thrombotic process of focal intravascular coagulation"
] | null | null | null | null |
gaucher:3878578 | Association of Gaucher's disease and lymphoid malignancy in 2 children. | [
"2 cases of acute lymphoblastic leukaemia (ALL) of childhood in association with Gaucher's Disease (GD) are presented, which are the first to be described. One of them is a common non-B non-T cell ALL and the other is at T-cell ALL. The association of GD with benign and malignant B-cell proliferation has recently b... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">2 cases 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 acute lymphoblastic leukaemia (ALL) of childhood\n <span style=\"font-size: 0.8em; font-weight:... | [
"acute lymphoblastic leukaemia (ALL) of childhood",
"Gaucher's Disease (GD)",
"common non-B non-T cell ALL",
"at T-cell ALL",
"GD"
] | null | null | null | null | null | null |
gaucher:4062951 | Assay of glucocerebrosidase using a fluorescent analogue of glucocerebroside for the diagnosis of Gaucher disease. | [
"For the diagnosis of homozygotes and heterozygotes of Gaucher disease, glucocerebrosidase (glucocerebroside beta-D-glucoside glucohydrolase, EC 3.2.1.45) activity in lymphocytes was measured using a fluorescent analogue of glucocerebroside, 1-0-glucosyl-2-N-(dimethylaminonaphthalene-5-sulfonyl)-sphingosine as subs... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">For the diagnosis of homozygotes and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n heterozygotes\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"Gaucher disease",
"Gaucher disease",
"Gaucher disease"
] | [
"heterozygotes"
] | null | null | null | [
"glucocerebrosidase (glucocerebroside beta-D-glucoside glucohydrolase, EC 3.2.1.45) activity in lymphocytes",
"The activity in lymphocytes",
"to be reduced markedly"
] | null |
gaucher:4033409 | Skeletal complications of Gaucher disease. | [
"Gaucher disease is a collection of related disorders of sphingolipid catabolism caused by the deficiency of a specific beta-glucosidase. The inefficiency of this enzyme, glucocerebrosidase, to degrade its natural substrate leads to the accumulation of the complex lipid glucocerebroside in tissue macrophages. The p... | [
"<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 disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"disorders of sphingolipid catabolism",
"bone disease",
"multifocal bone disease"
] | null | [
"protean",
"hepatosplenomegaly",
"bone deterioration",
"disability",
"effects on the skeleton",
"skeleton is completely devastated by a process of osteopenia",
"osteonecrosis",
"osteosclerosis",
"most bizarre deformities in their bones",
"pathologic fracture",
"bone pain of an arthritic nature",... | null | null | [
"deficiency of a specific beta-glucosidase",
"inefficiency of this enzyme, glucocerebrosidase, to degrade its natural substrate"
] | [
"asymptomatic",
"neither radiographic, scintigraphic, nor histologic evidence of bone involvement",
"vascular hypothesis does not",
"systemic disorder of metabolism which affects bone uniformly",
"disturb the generation of competent osteoclasts",
"failure to maintain a healthy skeleton"
] |
gaucher:3929225 | Partial splenectomy in children with Gaucher's disease. | [
"Because of hypersplenism and mechanical problems, partial splenectomy was performed in four children with Gaucher's disease. Subsequently, one of the patients underwent a total splenectomy due to bleeding from the remnant of the spleen. At the follow-up of the other three patients, an isotope scan showed that the ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Because 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 hypersplenism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Gaucher's disease"
] | null | [
"mechanical problems",
"bleeding from the remnant of the spleen",
"the remaining spleen was functioning well"
] | [
"partial splenectomy",
"total splenectomy"
] | null | [
"hypersplenism"
] | null |
gaucher:3924448 | Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants. | [
"Glucosylceramide and glucosylsphingosine isolated from spleen, liver and brain were quantitated and characterized in two unrelated patients with Gaucher disease, neither of whom had clinical or neuropathologic evidence of neuronal involvement. Visceral glucosylceramide accumulation did not differ in the two patien... | [
"<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 Glucosylceramide and glucosylsphingosine isolated from spleen, liver and brain\n <span style=\"font-size: ... | [
"Gaucher disease",
"Norrbottnian (Type 3) form of Gaucher disease"
] | null | null | null | [
"American Black",
"Ashkenazi Jewish",
"Ashkenazi Jewish",
"Ashkenazi Jewish"
] | null | [
"clinical or neuropathologic evidence of neuronal involvement"
] |
gaucher:3984948 | Gaucher's disease: a case history with extensive lipid storage in the brain. | [
"Patients with acute infantile or type II neuropathic Gaucher's disease demonstrate neurologic deficits that are seemingly greater than the extent of the central nervous system involvement found at autopsy. Examination of the brain of an affected child shows widespread deposition of lipid in a pattern not recognize... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 acute infantile or type II neuropathic Gaucher's disease\n <span style=\"font-size: 0.8em; f... | [
"acute infantile or type II neuropathic Gaucher's disease"
] | null | [
"neurologic deficits",
"extent of the central nervous system involvement",
"mild tissue response",
"functionally becomes highly significant"
] | null | null | null | null |
gaucher:3855992 | Gaucher's disease affecting the mandible. | [
"A case of Gaucher's disease affecting the left body of the mandible is presented. Dentists can recognize this uncommon disease through the medical history of the patient, the presence of characteristic Gaucher cells on biopsy of the lesion, and decreased serum levels of the enzyme glucocerebrosidase."
] | [
"<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 Gaucher's disease affecting the left body of the mandible\n <span style=\"font-size: 0.8em; font... | [
"Gaucher's disease affecting the left body of the mandible"
] | null | null | null | null | [
"decreased serum levels of the enzyme glucocerebrosidase"
] | null |
gaucher:3981177 | Neurological involvement in type 1 (adult) Gaucher's disease. | [
"A case of type 1 (adult) Gaucher's disease with a late onset tapeto-retinal degeneration and an initially dopamine responsive extrapyramidal syndrome is described. The literature reporting neurological involvement in type 1 Gaucher's disease is reviewed, and it is concluded that the absence of symptoms and signs o... | [
"<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 type 1 (adult) Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"type 1 (adult) Gaucher's disease",
"type 1 Gaucher's disease",
"Gaucher's disease"
] | null | [
"late onset tapeto-retinal degeneration",
"neurological involvement"
] | null | null | null | [
"initially dopamine responsive extrapyramidal syndrome",
"absence of symptoms and signs of nervous system involvement"
] |
gaucher:4088608 | New ocular findings in Gaucher's disease: a report of two brothers. | [
"White deposits in the peripheral corneal endothelium, chamber angle and pupil margin are new findings in 1 of a sibship of 2 males affected by Gaucher's disease."
] | [
"<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 White deposits in the peripheral corneal endothelium, chamber angle and pupil margin\n <span style=\"font-... | null | null | [
"White deposits in the peripheral corneal endothelium, chamber angle and pupil margin"
] | null | null | null | null |
gaucher:3995519 | Unusual echocardiographic pattern in Gaucher's disease. | [
"Described in this paper is a 73-year-old Ashkenazi Jew affected with adult type 1 (nonneuronopathic form) Gaucher's disease. This was diagnosed at the age of 46 during an investigation of hepatosplenomegaly. No other members of his family were known to be affected with this disorder. The patient has been periodica... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Described in this paper 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 73-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"adult type 1 (nonneuronopathic form) Gaucher's disease",
"Gaucher's disease"
] | null | [
"hepatosplenomegaly",
"left ventricular hypertrophy",
"a septal muscular hump",
"extended area of apical akinesis",
"Myocardial involvement"
] | null | [
"Ashkenazi Jew"
] | null | [
"free of all cardiopulmonary symptoms"
] |
gaucher:3977630 | [Gaucher's disease combined with congenital developmental defects of the urinary system]. | [
"Two cases of Gaucher's disease of the juvenile type are described, in a boy of 1 year and 7 months and in a girl of 8 years. The juvenile type of Gaucher's disease is documented by detection in the internal organs of typical Gaucher's cells formed mainly of histiocytes and macrophages, PAS-positive and weakly posi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two cases 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 of the juvenile type\n <span style=\"font-size: 0.8em; font-weight: bold; l... | [
"Gaucher's disease of the juvenile type",
"juvenile type of Gaucher's disease"
] | null | [
"congenital developmental defects of the urinary system",
"bilateral megaureter",
"hydronephrosis",
"developmental defect of the renal arteries",
"bilateral cystic renal dysplasia"
] | null | null | null | [
"absence of the brain gangliocytes impairments"
] |
gaucher:3838241 | Vascular involvement in type 3 neuronopathic Gaucher's disease. | [
"A 6 3/4-year-old boy with neuronopathic Gaucher's disease died unexpectedly. Autopsy demonstrated unusual vascular findings with the presence of Gaucher's cells and intimal-medial fibrosis in the ascending aorta and widespread acute hemorrhagic necrosis of the left ventricular myocardium. The combination of eccent... | [
"<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 6 3/4-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"neuronopathic Gaucher's disease"
] | null | [
"died",
"unusual vascular findings",
"widespread acute hemorrhagic necrosis of the left ventricular myocardium",
"eccentric, intimal fibrosis of coronary arteries",
"left ventricular hypertrophy",
"pulmonary involvement",
"death"
] | null | null | [
"anemia"
] | null |
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