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)

Exfoliative dermatitis and erythroderma in infancy are rare. Clinicians need to be alert to the possible diagnosis of Omenn's syndrome (OS), a rare form of combined immunodeficiency in infants presenting with exfoliative dermatitis, erythroderma, recurrent infections, eosinophilia and raised IgE. OS is fatal unless treated by bone-marrow transplantation (BMT). We describe a 3-week-old girl who presented with a widespread scaly erythematous rash and stomatitis, and was initially treated for presumed atopic eczema and primary herpes stomatitis. Aged 3 months, she developed erythroderma, diarrhoea and hepatosplenomegaly associated with eosinophilia, raised serum IgE and low IgG, IgA and IgM levels, abnormal lymphocyte populations and skin histology, consistent with a diagnosis of OS. She remains well 16 months after a human leucocyte antigen-matched bone-marrow transplant from an unrelated donor.
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PMID:Omenn's syndrome: lessons from a red baby. 1849 5

An outbreak of peste des petits ruminants (PPR) was recorded in Kalubia province, Egypt in 2006, affecting a large population of migratory goats and sheep over a huge geographical area. Epidemiological, clinical and laboratory investigations were performed. Diseased animals showed pyrexia, erosive stomatitis, enteritis and bronchopneumonia. Clinical manifestations were more severe in goats. The overall morbidity, cumulative mortality and case fatality rates were 26.1%, 10.5% and 40.2%, respectively, and were significantly higher in young animals. Post-mortem examination showed emaciation, congested mucous membranes, lymphadenopathy, hepatosplenomegaly, haemorrhagic necrosis of the abomasal and intestinal mucosa, pleurisy and lung consolidation. Forty oculonasal swabs and 243 serum samples from diseased animals were tested for PPR antigen and antibodies using immunocapture and competitive enzyme-linked immunosorbent assays (ELISA), respectively. PPR antigen was detected in 30/40 (75%) of the swabs. PPR virus was identified in inoculated Vero cells using immunocapture ELISA and fluorescent antibody technique (FAT); 33/40 (82.5%) and 36/40 (90%) samples were positive, respectively. Of 243 sera, 154 (63.4%) contained PPR antibodies. Circulation of PPR among the migratory sheep and goat flocks was demonstrated. Strict serosurveillance and monitoring of PPR with vaccination of migratory flocks at borders is required for effective control of the disease.
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PMID:An outbreak of peste des petits ruminants in migratory flocks of sheep and goats in Egypt in 2006. 2130 63

A ranula is a mucus retention cyst or pseudocyst caused by leakage of mucus from the sublingual gland and generally occurs in the oral floor. In addition, drug induced hypersensitivity syndrome (DIHS) is a rare but well-recognized serious adverse effect characterized by fever, skin rashes, generalized lymphadenopathy, hepatitis, and hepatosplenomegaly and oral stomatitis. This paper presents the first case of successfully treated sublingual ranula with localized injection of OK-432 after healing from drug induced hypersensitivity syndrome, which has previously been unreported in the literature. We present the case of a 38-year-old Japanese woman with sublingual ranula that responded successfully to localized injection treatment with OK-432 after healing from drug induced hypersensitivity syndrome. She was affected with cutaneous myositis and interstitial lung disease when she was 26 years old. At the age 34 years, she received additional oral treatment of diaminodiphenyl-sulfone due to deterioration of the cutaneous myositis, which resulted in drug induced hypersensitivity syndrome (DIHS) with severe oral stomatitis. Local injection of OK-432 to the ranula may be a very safe and useful treatment method even if the patient has a history of drug allergy and has connective tissue disease such as cutaneous myositis.
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PMID:A Case of Sublingual Ranula That Responded Successfully to Localized Injection Treatment with OK-432 after Healing from Drug Induced Hypersensitivity Syndrome. 2714 39