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)

Between 1976 and 1979 a myeloproliferative disease associated with cells monosomic for chromosome number 7 in the bone marrow was seen in six boys aged 5 1/2 months to 8 years (median 10 months). Presenting features included hepatosplenomegaly (5/6), respiratory infections (4/6), pallor (2/6) and skin infections (1/6). Haematological features included a leucoerythroblastic anaemia with leucocytosis and thrombocytopenia, and a hyperplastic marrow with a slight excess of blasts. Fetal haemoglobin was normal in four patients and mildly raised in the other two. Neutrophil function tests showed defective chemotaxis with reduced killing, despite a normal NBT test. Cytogenetic analysis of the marrow showed a preponderance of cells with monosomy 7; the blood lymphocytes were cytogenetically normal. In three patients the disease progressed to acute myeloid leukaemia (AML) after 3 weeks to 23 months; the only patient who remitted did so in response to 6-mercaptopurine and prednisolone, but relapsed 16 months later. A fourth child developed massive splenomegaly which initially responded to 6-mercaptopurine and prednisolone, but progressed to myelofibrosis 11 months later. A fifth child died from anaemia and respiratory infection without progression to leukaemia and the sixth patient has not yet developed leukaemia. Monosomy 7 is the diagnostic criterion of one of the more common myeloproliferative states in childhood and carries a high risk of progression to AML. The acute phase is usually resistant to chemotherapy, but even in responsive cases treatment does not result in elimination of the abnormal clone. Allogeneic bone marrow transplantation should be considered in cases with a suitable donor.
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PMID:Monosomy 7 in childhood: a myeloproliferative disorder. 694 67

Defective chemotaxis and phagocytosis of Staphylococcus aureus was identified in a female infant with marked hepatosplenomegaly and recurrent infections. Neutrophil mobilization from the marrow and marginal pool; random mobility; phagocytosis of yeast particles, latex beads and carbon particles; phagocytosis and intracellular killing capacity of Streptococcus pyogenes and E. coli; and NBT dye reduction were normal. Infiltration of neutrophils was depressed in the skin window test. The complement system and cellular immunity were intact. The patient also had a persistent EB virus infection. Defective phagocytosis limited to Staphylococcus aureus seems to be caused by an intrinsic cellular defect, such as congenital defect in neutrophil receptors for Staphylococcus aureus.
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PMID:Defective phagocytosis confined to Staphylococcus aureus in a female infant with recurrent infections. 698 67

Out of 23 cases with a final diagnosis of idiopathic fever, 20 had self-limited fever with complete resolution. Comparing the cases of self-limited fever with other groups of patients with fever of unknown origin, the following differences were apparent: compared with tumoral and collagen diseases, self-limited fever occurred more frequently below age 40, the difference being significant (p less than 0.01). Chills occurred more frequently in self-limited fever than in tumoral and collagen diseases, while the incidence was similar in infectious diseases. Infectious, tumoral and collagen diseases presented with significantly greater weight loss (p less than 0.01) than self-limited fever. A greater incidence of hepatosplenomegaly was noted in self-limited fever than in infectious diseases. Hemoglobin and erythrocyte sedimentation rate (ESR) were significantly higher in self-limited fever than in the other illnesses. The NBT test was positive, with a reduction superior to 30% in the six cases in whom it was performed. In nine cases various invasive procedures were utilized: radiology, biopsy, laparoscopy (two cases), and laparotomy (one case). The data on the present series of self-limited idiopathic fever support an infectious origin of the disease because of the following: absence of an age difference with the group with a demonstrated infectious cause; fever of less than two months duration in most cases; presence of chills and less incidence of weight loss, anemia, and elevated ESR in relation to the other groups of fever of unknown origin; a positive NBT test; and spontaneous evolution to complete resolution of the disease.
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PMID:[Self-limited idiopathic fever. A study of twenty cases (author's transl)]. 721 24