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)

Central nervous system (CNS) involvement in Ki-1/CD30 lymphoma is extremely rare, in contrast to the frequent involvement in other types of pediatric non-Hodgkin's lymphoma. No mechanism has yet been proposed to explain the sparing of the blood brain barrier in Ki-1/lymphoma. We present a 2-year-old boy who was admitted to the Department of Pediatric Hemato-Oncology due to lethargy, progressive breathing difficulties, massive diffuse lymphadenopathy, hepatosplenomegaly, and ichthyosis-like skin involvement with epidermolysis. A lymph node biopsy was compatible with Ki-1/CD30 anaplastic large cell lymphoma (ALCL). Bone marrow aspirate and biopsy demonstrated reactive hyperplasia. Cytogenetic analysis displayed hyperdiploid cells with 1p(-) in most cells. Cerebrospinal fluid examination showed pleocytosis with CD30+ cells. Possible mechanisms which could enable CNS involvement in this unusual case are discussed.
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PMID:Central nervous system involvement at diagnosis in a case of pediatric CD30+ anaplastic large cell lymphoma. 898 49

An anaplastic large cell lymphoma with disseminated abdominal metastases was diagnosed in a 35-year-old male chimpanzee. Clinically, the animal displayed lethargy, weight loss, ascites, and abdominal distention. Imaging studies showed several large abdominal masses. At necropsy, variably sized masses of neoplastic mesenteric lymph nodes that encompassed several intestinal loops were present throughout the abdomen. The largest mass measured 9 x 5 cm and had cauliflower-like protrusions into the jejunal lumen. The entire abdominal cavity was covered by a sheet of neoplastic tissue. Histopathologically, the tumor consisted of solid sheets of proliferating lymphoid cells forming a cohesive growth that filled the lymph node sinuses. The tumor had invaded the intestinal wall. Anaplastic large cell lymphoma was diagnosed from immunohistochemistry findings on the basis of positive reaction to the CD3 and CD30 markers and negative reaction to the CD20 marker. Serologic analysis revealed positive titers for Epstein-Barr, cytomegalo-, and varicella-zoster viruses. Both serologic and virologic studies showed no evidence of detectable retroviral infection. This type of tumor has not been reported before in the chimpanzee.
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PMID:Spontaneous anaplastic large cell lymphoma in a chimpanzee: a clinicopathological and immunohistochemical study. 943 65

Prevention of beta thalassaemia implies knowledge of the molecular spectrum occurring in the population at risk. This knowledge is necessary, especially when a prevention protocol is applied to a multiethnic population. For this purpose, we carried out molecular analysis of 431 beta thalassaemia subjects belonging to tribal (aboriginal) and non-tribal communities of Orissa, a part of peninsular India and found six types of mutation (four previously unreported and two reported). Molecular analysis of beta gene mutation showed that out of 431 beta thalassaemia cases (265 beta thalassaemia traits, 64 beta thalassaemia major, 47 haemoglobin E-beta thalassaemia, 55 haemoglobin S-beta thalassaemia cases), 71% of cases (n=306) showed the IVS I-5(G-->C) mutation, 12% of cases (n=52) showed FS 41/42(-CTTT), 7% of cases (n=30) showed CD 15(G-->A), 4.8% of cases (n=21) showed CD 30 (G-->C), 3% of cases (n=13) showed FS 8/9 (+G), and 2% of cases (n=9) showed IVSI-1(G-->T). The tribal populations possess only the IVS I-5(G-->C) mutation whereas the non-tribal groups possess the FS 41/42(-CTTT), FS 8/9 (+G), IVS I-1(G-->T), CD30(G-->C) and IVS I-5(G-->C) mutations. Among the non-tribal communities, Muslims did not have the IVS I-1 (G-->T) mutation. Clinically, anaemia was mild to moderate in beta thalassaemia trait and was found to be associated with the majority of abnormalities such as pyrexial episodes, fatigue, headache, lethargy and pallor. However, there were no differences in the incidence of clinical abnormalities between tribal and non-tribal populations and also among the different molecular variants of beta gene. This is the first report from Orissa on the prevalence of different molecular variants of beta thalassaemia. The clinical presentation of beta thalassaemia trait cases and their variation from other population have been discussed with reference to the different genetic variants.
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PMID:Molecular variants and clinical importance of beta-thalassaemia traits found in the state of Orissa, India. 1984 86