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)

We report a 39-year-old Japanese man with HDL and apoA-I deficiency as well as data from members of his family. Corneal opacity and a stomatocyte were found but not tonsillar hypertrophy, xanthomas, or splenomegaly. His serum HDL cholesterol, apoA-I, apoA-II, and LDL cholesterol levels were t mg/dL, < 3 mg/dL, 6 mg/dL, and 175 mg/dL, respectively. Plasma triglyceride, phospholipid, apoB, apoC-III, and apoE levels were all within normal limits. Lecithin:cholesterol acyltransferase activity was half of normal, while lipoprotein lipase and hepatic triglyceride lipase activities were within normal limits. ApoA-I deficiency was confirmed by combined isoelectric focusing and sodium dodecyl sulfate-polyacrylamide gel electrophoresis and by an immunoblotting method. We surveyed the apoA-I gene of the patient and five of his family members by direct sequencing after amplification by polymerase chain reaction and found a codon 8 nonsense mutation (TGG --> TAG, Trp --> stop) in exon 3 of the apoA-I gene. The results of a pedigree analysis by DNA sequencing and restricted fragment length polymorphism (Sty I) were consistent with an autosomal codominant trait. Coronary angiography was performed to evaluate coronary atherosclerosis, but no significant luminal narrowing was detected. An intracoronary ultrasound study showed mild intimal hyperplasia in segment 6. In summary, this is a case of apoA-I deficiency without evidence of coronary heart disease.
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PMID:A new case of apoA-I deficiency showing codon 8 nonsense mutation of the apoA-I gene without evidence of coronary heart disease. 758 66

We report a case of intermediate lymphocytic lymphoma (ILL) with multiple lymphomatous polyposis. A 56-year-old man presented with general fatigue and bloody stool. Physical examination showed cervical and axillary lymphadenopathy, bilateral tonsillar hypertrophy, and moderate splenomegaly. Leukocyte count was 9,570/microliters with 11% abnormal cells, infiltration of which was observed in the bone marrow too. Examinations of the gastrointestinal tract revealed diffuse small polypoid lesions throughout the stomach and the entire large bowel. The biopsied specimens from both the stomach and large bowel showed diffuse infiltration of medium-sized lymphoid cells in the submucosa and the lamina propria. Lymph node biopsies showed ILL (mantle zone lymphoma). The phenotype of lymphoma cells was CD5 (+) CD10 (-) CD19 (+) CD20 (+) CD21 (+), and sIg mu delta-lambda. The patient was initially given the multiple agent chemotherapy, which did not improve the peripheral blood findings and was switched to the regimen that comprised of etoposide and prednisolone. The patient's lymphoma is well controlled by this regimen 35 months after diagnosis.
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PMID:[Intermediate lymphocytic lymphoma with multiple lymphomatous polyposis of the gastrointestinal tract]. 845 Jun 7

Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) is a non-malignant proliferative disorder characterized by histiocytic proliferation and hemophagocytosis following Epstein-Barr virus infection. Though quite rare, this condition represents an often fatal disease primarily affecting the pediatric population. We discuss the case of an adolescent female who presented initially with persistent cervical lymphadenopathy and the typical findings of tonsillar hypertrophy, pharyngitis, and splenomegaly associated with infectious mononucleosis. This case study outlines the pathogenesis, common clinical findings, diagnostic criteria, and a review of the HLH-94 treatment protocol. Early recognition and treatment is emphasized because of the fulminant course of the disorder.
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PMID:Persistent cervical lymphadenopathy in an adolescent with Epstein-Barr induced hemophagocytic syndrome: manifestations of a rare but often fatal disease. 1591 Oct 25