Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An unusual neurovisceral lipid storage disorder in two unrelated juvenile patients manifested itself by dystonia and involuntary movements, with facial grimacing, dysarthria, gait difficulty, and impaired manual dexterity. Supranuclear paresis of vertical gaze and splenomegaly were present. Absent were seizures, major intellectual deterioration, spasticity, or blindness. Histiocytes showed lysosomal storage of various phospholipids, cholesterol, neutral lipids, and autofluorescent material. Appendiceal neurons showed only an increse of phospholipids by histochemistry. Neuronal deposits differed ultrastructurally from these in histiocytes. Leukocyte sphingomyelinase activity was normal. The nosology of this disease and its relationship to so-called juvenile types of Niemann-Pick disease is discussed. The primary metabolic defect in these patients remains unknown.
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PMID:Juvenile dystonic lipidosis: an unusual form of neurovisceral storage disease. 18 51

A Salmonella typhimurium outbreak in 1-to-2-week-old broiler flocks in Mexico is reported. Clinical signs were growth retardation, blindness, twisted necks, and lameness. Gross lesions consisted of hypopyon, panophthalmitis, hepatomegaly with necrotic foci, enlarged spleen, pericarditis, coagulated and unabsorbed yolks, and purulent arthritis. Mortality and cull rates in different flocks ranged from 1.7% to 10.6% during the first two weeks of age. All internal organs, eyes, and hock joints of diseased chickens that were cultured were Salmonella-positive. The bacteria were also isolated from the breeder source flock. Disease was thought to be transmitted through eggs at hatch.
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PMID:Salmonella typhimurium outbreak in broiler chicken flocks in Mexico. 218 96

Osteopetrosis, a rare condition caused by a failure of osteoclasts to resorb bone, results in dense and deformed bones, growth failure, anemia, hypoplastic dentition, chronic infection, blindness, and massive splenomegaly. Children with infantile osteopetrosis have disease-related complications that affect nutritional status. Altered calcium and phosphorus intake has been reported in these patients, but previous studies did not include an assessment of dietary adequacy or nutrition-related complications. A prospective study of six children with severe infantile osteopetrosis was conducted to identify specific nutrition-related problems and effective nutrition intervention strategies. Patients were monitored by a registered dietitian while they participated in a clinical research protocol at St Jude Children's Research Hospital. Dietary records for each patient were obtained at set intervals during the 4-month study period. Because most patients lacked adequate dentition, they had difficulty obtaining adequate nutrition through normal oral intake. Three children required nutrition supplementation (enteral feedings for one and oral supplements for two). We conclude that oral and enteral nutrition support can provide nutrients needed for improved growth and response to treatment in patients with osteopetrosis.
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PMID:Managing osteopetrosis in children: a nutrition challenge. 855 44

An enlarged fetal spleen can be associated with fetal infection, anemia and different syndromes but its prenatal diagnosis is rare. We report on a diagnosis of splenomegaly at 32 weeks' gestation in a fetus which was found to be affected by cytomegalovirus infection. An enlarged spleen was suspected when the stomach was found to be displaced anteriorly and medially and the diagnosis was supported on visualization of the splenic vessels by color and three-dimensional power Doppler ultrasound. The patient had been referred because of fetal growth restriction and intracerebral anomalies and the additional finding of splenomegaly was highly suspicious for cytomegalovirus infection. This was confirmed by positive maternal serology and by neonatal virus excretion in urine. Retrospectively, examination of stored blood samples from 9 and 23 weeks' gestation revealed an early cytomegalovirus infection. Antenatal and neonatal magnetic resonance imaging examinations showed microcephaly, lissencephaly and the presence of microcalcifications. At the age of 9 months, the child suffers from severe neurological impairment and blindness due to severe optical atrophy. This case emphasizes that color Doppler and three-dimensional power Doppler ultrasound can facilitate the antenatal diagnosis of splenomegaly and can help to delineate the spleen from the similar-looking neighboring liver.
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PMID:Marked splenomegaly in fetal cytomegalovirus infection: detection supported by three-dimensional power Doppler ultrasound. 1223 Apr 58

Severe malaria claims 1.5 to 2.7 million lives annually most of which are young children in rural areas in sub-Saharan Africa. We retrospectively reviewed the files of 387 patients, admitted and treated for severe malaria according to WHO guidelines, in the Bertoua provincial hospital, a peripheral health center in East Cameroon from 1st October 1998 to 30h October 2000. Our main objective was to study the epidemiological aspects, clinical presentation and outcome. The mean age was 2.7 years (range 2 months - 15 years) among them 214 males and 173 females giving a sex ratio of 1.2. Transmission was observed all year round at variable frequencies with peaks in the rainy seasons. Major symptoms were fever in 202 patients (52.2%), convulsions in 150 (38.8%), prostration in 79 (20.4%) and persistent vomiting in 78 patients (20.2%). Major clinical findings were severe pallor in 196 patients (50.6%) and splenomegaly in 75 patients (19.4%). The average time between onset of symptoms and consultation was 4.4 days (range 1 - 21 days). Blood smears were positive for Plasmodium falciparum in 288 patients (74.4%) and negative in 99 (25.6%). Concerning outcome, recovery was observed in 317 patients (81.9%), interruption of treatment (because of financial constraints) in 58 (15%) and 12 deaths (3.8%). Among the 317 patients who recovered, neurological sequelae were observed in six patients, blindness in four patients and deafness in three patients were the most frequent. We conclude that severe malaria constitutes a major challenge of early diagnosis together with implementation of appropriate treatment especially in rural areas. The use of WHO guidelines in the management of this disease and the recommended preventive measures of vector control have yielded good results in patients managed and followed up in our hospital.
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PMID:The clinical spectrum of severe malaria in children in the east provincial hospital of Bertoua, Cameroon. 1730 41