Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three Chinese infants with methylmalonic acidaemia were described. They presented in the neonatal period with recurrent episodes of poor feeding, lethargy, apnoea and severe acidosis. The diagnosis was established by increased methylmalonic acid concentration in the plasma and/or urine. Pancytopenia was a prominent feature in all three patients. Only patient three had assessment of lymphocyte subsets and it showed diminished population of B-lymphocytes and a reversed CD4/CD8 ratio. All three patients were unresponsive to vitamin B12. They experienced severe infections including Gram-negative septicaemia, candidiasis and Pneumocystis carinii pneumonia which caused their deaths. Patients with this disease should be regarded as having severe immunodeficiency, and in addition to optimal metabolic control, they should be treated aggressively for any suspected infective episodes.
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PMID:Immunodeficiency in methylmalonic acidaemia. 156 72

Necrotizing enterocolitis was found in 77 infants over a 5 year period. Diagnosis of NEC was established on 4.9 + 4.8 days in babies with birth weight of 1667 + 577 grams and the gestational age of 33.3 + 2.6 weeks. Definite disease occurred in 33 (42.9%) babies while there was strong suspicion in another 44 (57.1%) babies. Prefeed gastric residue (98.7%), abdominal distension (97.3%), lethargy (78.7%), hypotonia (60%) and jaundice (48%) were the main presenting features. However, blood in stools and abdominal wall erythema were found in 38.7% babies. About one third of infants had a positive blood culture. Pneumatosis intestinalis was present in 83.9% of babies and pneumoperitoneum was seen in 35.5% of neonates with NEC. Ileo-ceco-colic region was the commonest site of involvement. Overall survival was 61% and survival with Stage III was only 13%. Birth weight less than 1500 g, gestational age less than 32 weeks, erythema of the abdominal wall, intra-abdominal mass, portal venous gas in abdominal X-ray and Gram negative septicemia were associated with higher mortality.
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PMID:Neonatal necrotizing enterocolitis: a clinical study. 807 31