Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 66-year-old man was admitted for shortness of breath and showed fever, abdominal fullness and paraplegia. Monocytosis amounting to 25% and an elevation of serum LDH (4,281 mIu), were remarkable in the laboratory findings. He died of pulmonary insufficiency about a month after admission. On autopsy hepatomegaly (1950 g), splenomegaly (780 g), but no lymphadenopathy and small infarction in the thoracic spinal cord causing paraplegia was noted. Histopathologically, the invasion of the tumor cells into the liver, spleen, lymph nodes, bone marrow and other organs was observed. Malignant histiocytosis was diagnosed by histologic and immunohistochemical studies (lysozyme positive, S-100 protein negative).
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PMID:[A case of malignant histiocytosis with paraplegia]. 362 41

The phenotype of E-beta-thalassemia is affected by several genetic factors. The aim of this study was to analyze severity of E-beta-thalassemia and correlate with HbE, HbF, E/F ratios, beta-mutation and Xmn I polymorphism. Thirty cases of E-beta-thalassemia (23 with childhood onset) were studied. HbE levels were quantitated by HPLC. Xmn1 polymorphism and beta-mutations were studied by PCR-RFLP and ARMS respectively. Commonest features were pallor (100%), splenomegaly (74%), and hepatomegaly (65%), 43% (10/23) were on regular transfusions at diagnosis. One case presented with paraplegia. Patients heterozygous for Xmn I polymorphism (+/-) had later onset (>3 yrs) compared to homozygous (-/-) absence (0.5-2.8 yrs). Most (69.6%) showed beta-mutation IVS 1-5 (G-->C). Negative correlation was found between age of onset and HbE. Thus, presentation is similar to previously reported Thai cases. Heterozygosity of Xmn I polymorphism also delays disease onset. Early diagnosis facilitates appropriate management and prenatal diagnosis.
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PMID:Hemoglobin E-beta thalassemia: factors affecting phenotype. 1587 97

Central nervous system involvement is a serious complication of brucellosis; data found in the literature are generally restricted to case reports and case series. In this study we pooled the data from Turkish medical practice in order to gain a thorough understanding of the subject. A search of Turkish publications on chronic neurobrucellosis was made using both Turkish and international databases. A total of 35 publications were analyzed and 187 neurobrucellosis cases were evaluated. Headache, fever, sweating, weight loss, and back pain were the predominant symptoms, while meningeal irritation, confusion, hepatomegaly, hypoesthesia, and splenomegaly were the most frequent findings. The major complications in patients were cranial nerve involvement, polyneuropathy/radiculopathy, depression, paraplegia, stroke, and abscess formation. Antibiotics were used in different combinations and over different intervals. The duration of antibiotic therapy reported ranged from 2 to 15 months (median 5 months). The mortality was 0.5% with suitable antibiotics. Neurobrucellosis may mimic various pathologies. For this reason, a thorough evaluation of the patient with probable disease is crucial for an accurate diagnosis and proper management of the disease.
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PMID:Overview of neurobrucellosis: a pooled analysis of 187 cases. 1942 83

Hepatocellular carcinoma is the 5(th) most common cancer in men and the 2(nd) common cause of death from cancer worldwide. The tumour commonly metastasizes to the lungs, regional lymph nodes and bone. Spinal cord compression secondary to metastatic disease as a first presentation is uncommon. We describe a patient who presented with paraplegia as a first presentation of hepatocellular carcinoma. 46 year old Namibian man presented with progressive leg weakness that was associated with a dull back ache and inability to pass urine and stool. He had no history of trauma nor did he have chronic cough, night sweats or fevers. He has been treated several times for alcohol dependence. On examination he was wasted, power 0/5 in both lower limbs and a sensory level at T12. He also had a non-tender hepatomegaly with Alpha-fetoprotein of 2000. The Chest X-ray and Chest CT showed nodular opacities indicating metastatic disease and the X-ray and CT of the thoracic spine showed osteolytic lesion with destruction of the pedicle of L1. Liver and spinal biopsy confirmed the hepatocellular carcinoma. The extra hepatic manifestations of HCC are diverse and Spinal cord metastasis is of pertinent clinical importance and should thus be greatly considered.
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PMID:Spinal cord compression: an unusual presentation of hepatocellular carcinoma. 2593 76