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)

Thalassemia is a relatively common hemolytic anemia in Southeast Asia. Alpha and beta thalassemia, hemoglobin (Hb) E, and Hb Constant Spring (CS) are prevalent in Thailand. Different gene combinations lead to over 60 thalassemic syndromes. One hundred and forty-nine thalassemia families were retrospectively studied. They were 4 homozygous beta-thalassemia (beta-thal/ beta-thal), 79 beta-thal/Hb E, 22 Hb H disease, 32 Hb with Hb CS, and 6 AE Bart's disease. The first clinical manifestation and hematologic data including hemoglobin electrophoresis were analysed. Most homozygous beta-thalassemia and beta-thal/Hb E presented with anemia (100% vs 81%), hepatomegaly (40% vs 21%), and splenomegaly (20% vs 27%). In Hb H disease and Hb H with Hb CS, the clinical findings were anemia (74% vs 79%), hepatomegaly (9% vs 8%), splenomegaly (9% vs 13%), jaundice (24% vs 13%), and fever (18% vs 25%). The 317 hematologic data and hemoglobin types of the patients, their parents and relative were also analyzed. These findings can be used as reference values for childhood thalassemia and heterozygous states.
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PMID:Clinical phenotypes and genotypes diagnosis of thalassemia in children. 862 23

Clinical, haematological and pathological studies were undertaken in Jordan in a stud of 103 racing horses clinically suffering from babesiosis and apparently healthy animals. Out of 47 horses which participated in strenuous exercise, three mares showed sudden onset of immobility and reluctance to move and two mares died. Clinical examination revealed that these five horses (group 1) had fever, anorexia, weakness and severe icterus and, in two mares, haemoglobinuria. Haematological examination revealed that all five horses were heavily parasitized with Babesia equi. This was also found in four horses (group 2) with no evidence of clinical babesiosis. In group 3 (94 horses), neither clinical signs nor B. equi were observed in the blood. The horses in group 1 and 2 recovered after treatment with imidocarb. When the mean values of white blood cell count, red blood cell count, haemoglobin and packed cell volume in group 1 were compared with those for groups 2 and 3, a significant difference was found (P < 0.05). A significant difference was also found when the mean values were compared before and after treatment. Examination of serum total protein, bilirubin and serum enzymes revealed a significant decrease in the mean value of total serum protein (P < 0.05), and a significant increase in the mean values of bilirubin (P < 0.05) in group 1 compared to groups 2 and 3. A significant elevation in the mean value of aspartate aminotransaminase, gamma-glutamyltransferase and creatine phosphokinase and a substantial elevation in the mean value of alkaline phosphatase was also observed in group 1 compared to groups 2 and 3. Postmortem examination of the dead horses showed that the animals had icterus, hepatomegaly and full urinary bladder with deep-red urine. Histopathological examination of the liver showed massive centrilobular degeneration and necrosis. The bile canaliculi and bile ducts were prominent and plugged with dark-brown to canary-coloured bile pigments. The lungs had congestion, oedema, and thrombosis of pulmonary veins. Our results suggest that the horses suffered from B. equal with clinical manifestation following exercise. The clinical, haematological and pathological findings indicate that the animals suffered from haemolytic anaemia which responded to imidocarb therapy.
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PMID:Equine babesiosis associated with strenuous exercise: clinical and pathological studies in Jordan. 918 24

The authors analyze three cases of hepatosplenic (gamma-delta) T-cell lymphoma which is a newly defined unit in the spectrum of primary splenic lymphomas. The first two were diagnosed in sequential biopsies of bone marrow, splenectomic material and the liver of female patients aged 38 and 67 years. In the clinical picture dominated symptoms of progressing splenomegaly, hepatomegaly, haemolytic anaemia and different manifestations of leuco- and thrombocytopenia with expulsion of tumour cells into the peripheral blood. The first patient died after complete remission with signs of heart failure, the second one is surviving for 11 months in partial remission. The third case, a 66-year-old male patient, died suddenly during a 16-day hospitalization on account of diagnosis of hepatopathy and anaemic syndrome, as a result of cardiorespiratory failure. The diagnosis was established only post mortem. In none of the patients signs of affected lymph nodes were present. The authors analyze problems of bioptic diagnosis of the mentioned lymphoma, in particular biopsy of bone marrow in the stage of its initial infiltration. The key to diagnosis is in addition to knowledge of clinical manifestations the typical morphology and intrasinusoid propagation of tumour cells and immunohistochemical evidence of their T-phenotype. The predominance of initial manifestations of haemolytic anaemia calls for differential diagnosis of haemolytic conditions and confirmation of their secondary character.
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PMID:[Primary hepatosplenic (gamma delta) T-cell lymphoma: clinico-pathologic analysis of 3 cases]. 1035 63

A simian homologue of Kaposi's sarcoma-associated herpesvirus (KSHV), the eighth human herpesvirus (HHV8), was isolated from a simian immunodeficiency virus (SIV)-infected rhesus macaque (Macaca mulatta) that developed a multicentric lymphoproliferative disorder (LPD). This simian rhadinovirus is genetically similar to a recently described rhesus rhadinovirus (RRV) (Desrosiers, R.C., V.G. Sasseville, S.C. Czajak, X. Zhang, K.G. Mansfield, A. Kaur, R.P. Johnson, A.A. Lackner, and J.U. Jung. 1997. J. Virol. 71:9764-9769) and is designated RRV 17577. RRV 17577 was experimentally inoculated into rhesus macaques with and without SIV(mac239) infection to determine if RRV played a role in development of the LPD observed in the index case. In contrast to control animals inoculated with SIV(mac239) or RRV alone, two animals coinfected with SIV(mac239) and RRV 17577 developed hyperplastic LPD resembling the multicentric plasma cell variant of Castleman's disease, characterized by persistent angiofollicular lymphadenopathy, hepatomegaly, splenomegaly, and hypergammaglobulinemia. Hypergammaglobulinemia was associated with severe immune-mediated hemolytic anemia in one RRV/SIV-infected macaque. Both RRV/SIV-infected macaques exhibited persistent RRV viremia with little or no RRV-specific antibody response. The macaques inoculated with RRV alone displayed transient viremia followed by a vigorous anti-RRV antibody response and lacked evidence of LPD in peripheral blood and lymph nodes. Infectious RRV and RRV DNA were present in hyperplastic lymphoid tissues of the RRV/SIV-infected macaques, suggesting that lymphoid hyperplasia is associated with the high levels of replication. Thus, experimental RRV 17577 infection of SIV-infected rhesus macaques induces some of the hyperplastic B cell LPDs manifested in AIDS patients coinfected with KSHV.
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PMID:Induction of B cell hyperplasia in simian immunodeficiency virus-infected rhesus macaques with the simian homologue of Kaposi's sarcoma-associated herpesvirus. 1049 21

A 44-year-old female British travel guide suddenly had fever, nausea, vomiting, and diarrhea develop during her stay in South India. Four days later she was transported to our hospital. At admission she had a high temperature, impaired respiration, and abdominal pain. Clinical examination revealed bilateral pleural effusion, hepatomegaly, and ascites. Two days later the patient showed a generalized macular rash with a conspicuous sparing of small islands of normal skin. Hemorrhagic erythema on the palms and soles as well as focal petechiae on the hard palate and scleral and conjunctival bleeding were also observed. Hypotension and renal insufficiency developed 1 week after the illness started. Laboratory investigations revealed highly elevated levels of hepatic enzymes, severe hemolytic anemia, decreased platelet counts, and abnormal coagulation values. The presumptive clinical diagnosis of dengue hemorrhagic fever was supported by serologic testing that disclosed sustained high titers of hemagglutination inhibition antibodies. Symptomatic therapy with substitution of volume and albumin, blood transfusions, and administration of antipyretics resulted in complete recovery within 6 weeks.
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PMID:Dengue hemorrhagic fever in a British travel guide. 1186 82

Hereditary spherocytosis is a congenital haemolytic anaemia due to defect in spectrin-a RBC membrane protein and is transmitted as autosomal dominant. Due to this defect there is presence of characteristic spherical cell in peripheral blood smear and osmotic fragility is increased. Haemolytic anaemia, reticulocytosis, jaundice and splenomegaly are present. This article reports a case of a 9 year old boy who presented with a history of prolonged jaundice since the age of 4 years and recurrent pain in the right upper quadrant of abdomen. Clinical examination revealed jaundice, enlarged liver and marked splenomegaly. Investigations confirmed the diagnosis of hereditary spherocytosis by the presence of spherocytes in blood smear, raised reticulocytes and increased osmotic fragility. The patient was subjected to splenectomy after vaccination against coccobacillus and was discharged after proper advice and on post splenectomy antibiotic prophylaxis.
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PMID:Hereditary spherocytosis. 1582 83

Clinical studies have provided ample evidence that high (either systemic or local) levels of vascular endothelial growth factor (VEGF) are associated with several pathophysiological disorders, including hemangiomas. To investigate whether elevated VEGF expression could directly affect these disorders, we created a transgenic (Tg) rabbit model with increased hepatic expression of the human VEGF(165) transgene under the control of the human alpha-antitrypsin promoter. Tg rabbits exhibited marked hepatomegaly, with livers 2.5-fold heavier than those of control rabbits. Histological analysis revealed that the livers of Tg rabbits showed prominent dilation of the sinusoids and formed various-sized blood vessel networks, a feature of diffuse hemangiomas. Immunohistochemical staining revealed that the hepatocytes produced VEGF(165), whereas plasma VEGF(165) was not detected. Furthermore, Tg rabbits suffered from hemolytic anemia, thrombocytopenia and splenomegaly, which was associated with marked extramedullary hematopoiesis. The manifestations of Tg rabbits mimic many of the features of hemangiomatous disorders in humans such as the Kasabach-Merritt syndrome, and therefore this model may be potentially useful for the study of the pathogenesis and complications of hemangiomas as well as the investigation of angiogenesis inhibitors.
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PMID:Transgenic rabbits with increased VEGF expression develop hemangiomas in the liver: a new model for Kasabach-Merritt syndrome. 1620 77

Diaminodiphenyl sulphone (dapsone) is a drug of choice in the treatment of leprosy. It is also useful for the treatment of many neutrophilic and other dermatoses. Dapsone hypersensitivity syndrome is a rare but well recognized serious adverse effect characterized by fever, skin rashes, generalized lymphadenopathy, hepatitis, and hepato-splenomegaly. Twenty-six patients with dapsone hypersensitivity syndrome were studied for clinical profile, outcome, and prognosis. The male:female ratio was 2.2:1, and the mean age was 33.19 years (range 13 to 64 years). The interval between start of dapsone therapy and appearance of symptoms varied from 2-7 weeks (mean 29.82 days). Twenty-four patients received dapsone as a part of multi-drug therapy for leprosy; the other two patients received dapsone for lichen planus and acne vulgaris. Exfoliative dermatitis was the most common cutaneous manifestation followed by erythematous maculo-papular eruption and Stevens-Johnson syndrome-like lesion. The other common systemic manifestations were: fever (26 cases), itching (22 cases), lymphadenopathy (21 cases), jaundice (21 cases), pallor (20 cases), hepatomegaly (19 cases), and pedal edema (14 cases). Investigation profile revealed elevated levels of serum liver enzymes in 100% of patients, elevated erythrocyte sedimentation rate in 92.3%, raised bilirubin in 84.6%, leucocytosis in 69.23%, low hemoglobin (<9 gm/dl) in 46.15% and hypoproteinemia in 42.3%. Eosinophilia, hemolytic anemia, and reticulocytosis count were found in 4 patients each. All the patients had favorable outcomes except three who died due to hepatic failure. Medical personnel must be aware of this potentially fatal syndrome, because it can cause considerable morbidity and mortality.
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PMID:Dapsone hypersensitivity syndrome: a clinico-epidemiological review. 1636 48

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematopoietic stem cell disorder characterized by hemolytic anemia, hemoglobinuria, bone marrow failure, and hypercoagulability. Thrombosis is the leading cause of mortality and occurs in one-half of PNH patients, with the hepatic veins being the most common site. Patients with hepatic vein thrombosis (Budd-Chiari syndrome) can present with abdominal pain, hepatomegaly, jaundice, and ascites. Prognosis is poor for these patients; death may occur from liver failure, vessel rupture, intestinal ischemia, infarction, necrosis, or sepsis. The authors report three consecutive cases of successful treatment with catheter-directed thrombolysis and thrombectomy directly in the hepatic veins in patients with PNH who developed acute hepatic vein thrombosis. This treatment represents a potential bridge toward more curative therapies such as allogeneic bone marrow transplant.
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PMID:Catheter-directed thrombolysis and thrombectomy for the Budd-Chiari syndrome in paroxysmal nocturnal hemoglobinuria in three patients. 1651 88

A 2-year-old Chinese boy was referred to Hospital UKM for investigation of recurrent episodes of dark-coloured urine and pallor since birth. He was born prematurely at 34 weeks gestation and developed severe early-onset neonatal jaundice requiring exchange blood transfusion. Screening at birth showed Glucose-6-phosphate dehydrogenase (G6PD) deficiency. On admission, physical examination revealed pallor, jaundice and mild hepatomegaly. Results of laboratory investigations showed a hemoglobin level of 11.0 g/dl with a hemolytic blood picture, reticulocytosis of 20% and red cell G6PD activity reported as undetectable. The patient's DNA was analysed for G6PD mutations by PCR-based techniques and DNA sequencing and results showed a 24 bp deletion of nucleotide 953-976 in the exon 9 of the G6PD gene. DNA analysis was also performed on blood samples of the patient's mother and female sibling confirming their heterozygous status, although both showed normal red cell G6PD activity levels. The patient was discharged well and his parents were appropriately advised on the condition and the importance of taking folic acid regularly. This is a first case report in Malaysia of G6PD deficiency causing chronic-hemolytic anemia. The rare 24 bp deletion causes the G6PD Nara variant, previously reported only in two other unrelated males, a Japanese and a Portuguese both with chronic hemolytic anemia.
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PMID:G6PD deficiency with hemolytic anemia due to a rare gene deletion--a report of the first case in Malaysia. 1675 52


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