Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A radiological diagnosis of gastric volvulus (GV) was made in 11 of 576 consecutive upper gastrointestinal series at the University of Benin Teaching Hospital, Nigeria, over a two-year period. The clinical symptoms were thoracico-abdominal in three and abdominal in eight; these cases were evaluated as acute in three, acute upon chronic in two, and chronic in six. There was a significant delay in the diagnosis in all cases (except a neonate in the series), and no case was diagnosed on clinical grounds alone.THE PREDISPOSING FACTORS (EXCEPT THE CLINICAL MISDIAGNOSIS OF THE NEONATE) IN SIX OF THE SEVEN CASES THAT CAME TO SURGERY WERE: diaphragmatic hernia and perigastritis (left lung abscess, thoracic empyema), arteriomesenteric compression of the duodenum in pregnancy (peptic ulcer), splenomegaly (hepatosplenomegaly, ascites, esophageal varices), previous gastrojejunostomy (stomal ulcer, left subphrenic abscess) and two cases of intestinal malrotation with mesenteric abnormalities (small bowel obstruction in one and duodenal atresia in the other). In one idiopathic case, gastric outlet obstruction was clinically suspected prior to surgery. Thus, the putative rarity of GV in black Africans is not supported by this experience.Gastric volvulus is a clinico-radiologic entity that may present with a confusing thoracico-abdominal symptom complex. A greater awareness of the radiologic features is quintessential to an expeditious and usually successful surgical management that will avoid potentially serious complications. Negative surgical findings do not exclude GV as the underlying cause of acute abdomens necessitating emergency laparotomies.
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PMID:Volvulus of the stomach: an African series and a review. 356 Feb 44

Gaucher disease (GD) is an inherited lysosomal disorder, originating from deficient activity of the lysosomal enzyme glucocerebrosidase (GCase). Normally, GCase hydrolyzes glucocerebroside (GC) to glucose and ceramide; however, impaired activity of this enzyme leads to the accumulation of GC in macrophages, termed "Gaucher cells." Gaucher disease is associated with hepatosplenomegaly, cytopenias, skeletal complications and in some forms involves the central nervous system. Coagulation abnormalities are common among GD patients due to impaired production and chronic consumption of coagulation factors. Bleeding phenomena are variable (as are other symptoms of GD) and include mucosal and surgical hemorrhages. FOUR MAIN ETIOLOGICAL FACTORS ACCOUNT FOR THE HEMOSTATIC DEFECT IN GD: thrombocytopenia, abnormal platelet function, reduced production of coagulation factors, and activation of fibrinolysis. Thrombocytopenia relates not only to hypersplenism and decreased megakaryopoiesis by the infiltrated bone marrow but also to immune thrombocytopenia. Autoimmunity, especially the induction of platelet antibody production, might cause persistent thrombocytopenia. Enzyme replacement therapy reverses only part of the impaired coagulation system in Gaucher disease. Other therapeutic and supportive measures should be considered to prevent and/or treat bleeding in GD. Gaucher patients should be evaluated routinely for coagulation abnormalities especially prior to surgery and dental and obstetric procedures.
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PMID:Hemorrhagic aspects of Gaucher disease. 2538 55