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

A diagnosis of Niemann-Pick disease type A was made in a 6-month-old boy on the grounds of progressive psychomotor retardation, hepatosplenomegaly, typical foam cells in the bone marrow and a deficiency of sphingomyelinase in a liver biopsy. Typical ultrastructural changes in lysosomes were found in hepatocytes and in Schwann cells. In spite of the absence of gross morphological changes in the axons and in the myelin sheath of the peripheral nerve biopsy, the nerve conduction velocity in the patient was greatly reduced. The ultrastructural aspect of the lysosomal inclusion suggested the storage of a phospholipid. Biochemical analysis of the liver biopsy demonstrated an increased content of total phospholipid of which sphingomyelin made up for more than 60%. The significance of these data are discussed.
J Neurol 1975 Dec 02
PMID:Niemann-Pick's disease. Clinical, biochemical and ultrastructural findings in a case of the infantile form. 5 32

A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by the paucity of obvious physical findings because of the patient's young age and his ethnic origin.
J Med Genet 1977 Dec
PMID:Hunter syndrome presenting as macrocephaly and hydrocephalus. 14 40

The clinical characteristics of a 16-year-old white girl with mucolipidosis type III included early growth retardation, severe dysostosis multiplex, restricted joint motion, tight indurated skin, swollen eyelids, late-onset hepatosplenomegaly, umbilical hernia, corneal opacities, and only slightly impaired mental and neurological development. Cultured fibroblasts contained numerous coarse perinuclear retractile inclusions. Biochemical findings indicated the following: (1) normal levels of urinary acid mucopolysaccharides, (2) deficient activities of multiple lysosomal hydrolases in cultured fibroblasts, (3) elevated activity levels of seven serum lysosomal hydrolases, and (4) elevated activity levels of four lysosomal hydrolases in urine.
Am J Dis Child 1978 Dec
PMID:Mucolipidosis type III. Multiple elevated serum and urine enzyme activities. 15 78

A study of 3451 cholesterol determinations in different diseases was carried out. The mean cholesterol levels for male and female adults and children with different diseases were compared with values for their healthy counterparts. Sickle cell anemia, leukemia, liver cirrhosis, hepatosplenomegaly, tuberculosis, and diabetic, nutritional, ataxic, and tropical neuropathies in male and female adults were associated with reduced cholesterol level while in children malnutrition and anemia were the main causes of low cholesterol levels. Obesity and hypertension caused an elevated level but the mean values were within the range for adult Nigerians in the high income group. Only nephrotic syndrome in both adult and children was associated with a markedly increased cholesterol level in Nigerians of low income status.
Am J Clin Nutr 1979 Dec
PMID:Serum cholesterol and diseases in Nigerians. 50 76

A 21 years old female patient with lipoatrophic diabetes, a distinct syndrome of insulin resistant diabetes mellitus, loss of subcutaneous fat, hepatosplenomegaly, hyperlipidemia, increased basal metabolic rate, subvalvular aortic stenosis and cystic bone lesions is described. She exhibited all clinical signs of diabetic microangiopathy. Quantitative estimation revealed severely thickened basement membranes of muscle capillaries. It is concluded that the extent of her microangiopathy is a consequence of her excessive metabolic abnormalities.
Res Exp Med (Berl) 1977 Dec 15
PMID:Muscle capillary basement membrane thickness in lipoatrophic diabetes. 59 1

Eight bilharzial patients with hepatosplenomegaly who underwent splenectomy under ether anaesthesia were studied. The levels of iron, zinc, titanium, aluminium, calcium, magnesium and phosphorus were determined in the plasmas and RBCs both preoperatively and up to four days postoperatively. Preoperatively the bilharzial patients were found to have subnormal levels of the studied elements except aluminium in plasma. The effect of ether anaesthesia and surgery (splenectomy) was marked on the second postoperative day. All the elements displayed a tendency towards reaching preoperative levels by the fourth day except titanium which was still elevated. Metal ions particularly zinc and magnesium should be monitored in bilharzial patients in general and in the advanced cases in particular, who are undergoing major surgery. This should be done as a precautionary measure especially since these patients have subnormal metal ion levels.
J Trop Med Hyg 1977 Dec
PMID:Some metal ion changes in plasma and erythrocytes following ether anaesthesia and surgery in bilharzial patients. 60 43

A girl aged 14 years, who showed local skin lesions and generalized reactions such as fever, hepatosplenomegaly, hypergammaglobulinaemia and pancytopenia following mosquito bites, has been evaluated with various immunological methods. The intracutaneous tests, P-K tests and RAST confirmed the presence of specific IgE antibody against mosquito antigens, but no precipitating antibody was detected by either the double immunodiffusion or immunofluorescent antibody techniques. As far as the type IV reaction is concerned, the skin test failed to show a positive delayed skin reaction, but the lymphocyte incorporation of 3H-TdR exhibited a maximal response with smaller doses than the controls.
Acta Allergol 1976 Dec
PMID:A case of mosquito allergy. Immunological studies. 82 12

Two cases of disseminated histoplasmosis caused by H. capsulatum in Nigerian children are reported. This is a rare infection in this part of the world. The main clinical features were fever, weight loss, lassitude, lymphadenopathy, hepatosplenomegaly and severe anaemia, features indistinguishable from those of tuberculosis, Hodgkins and other reticuloses. Recognition of this infection in this environment is possible if it is considered in the differential diagnosis of pyrexia of undetermined origin and appropriate laboratory tests carried out on suitable specimens such as bone marrow, splenic aspirate or biopsy material. Treatment of choice is amphotericin B given intravenously, starting with 0-25 mg/kg. and increasing slowly to 1 mg/kg. Other useful drugs are Septrin and rifampicin which can be given concurrently. Subcutaneous abscesses and multiple bone lesions occurred in both our cases presumably as a result of blood stream infection, or embolisation from endocarditis.
J Trop Med Hyg 1975 Dec
PMID:Disseminated histoplasmosis due to histoplasma capsulatum in two Nigerian children. 122 26

A 29-year-old man presented with acute onset of high fever, chest pain and dyspnea. Chest X-ray film showed diffuse interstitial shadows, a cavitary lesion in the left upper lung field and cardiomegaly, but no lymphadenopathy. Abdominal CT scan showed hepatosplenomegaly and multiple small low density areas in the liver and spleen. Electrocardiogram demonstrated multifocal ventricular premature beats and ventricular tachycardia. Cardiac catheterization revealed left ventricular aneurysms. Sarcoidosis was confirmed by lung and liver biopsy. Drug therapy of prednisolone and mexiletine resulted in clinical improvement of symptoms, signs and chest X-ray film, but platelet count decreased gradually. It is suggested that an immune mechanism of sarcoidosis may have been the cause of this thrombocytopenia.
Nihon Kyobu Shikkan Gakkai Zasshi 1992 Dec
PMID:[A case of cardiac sarcoidosis associated with various clinical symptoms and thrombocytopenia]. 128 37

The case of a two-year-old girl with generalized histiocytosis, probably induced by phenobarbital, is reported. Symptoms, including intermittent fever, systemic lymphadenopathy, maculopapular skin eruption and hepatosplenomegaly, suggested Langerhans cell histiocytosis. Laboratory examinations revealed leukocytosis with lymphocytosis and eosinophilia and a high LDH serum level, while GOT and GPT were within normal ranges. Cytological studies of lymph node and pleural effusion specimens revealed proliferation and infiltration of Langerhans cell histiocytes with eosinophilia. No histiocyte proliferation was observed in the bone marrow or skin. The clinical manifestations shown by the patient were, however, transient, and improved spontaneously after the discontinuation of phenobarbital. The case was considered to be one of phenobarbital hypersensitivity syndrome based on clinical course and laboratory findings. The mechanism and differential diagnosis of the syndrome are discussed.
Jpn J Clin Oncol 1992 Dec
PMID:A case of hypersensitivity syndrome resembling Langerhans cell histiocytosis during phenobarbital prophylaxis for convulsion. 129 59


1 2 3 4 5 6 7 8 9 10 Next >>