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)

Adult-onset Still's disease (AOSD) is a systemic inflammatory disorder of unknown etiology and pathogenesis. AOSD is a rare condition, usually presenting with high fever accompanied by systemic manifestations. The disease is a heterogeneous pathological entity with a range of etiologies, manifestations and prognosis. There is no single diagnostic test for AOSD; rather, the diagnosis is based upon clinical criteria such as arthralgia, fever, skin rash, lymphadenopathy, and hepatosplenomegaly. Determination of the procalcitonin level and the biological response to empirical corticosteroid therapy generally helps the diagnosis, while immune-serology, as a 'screening' test, will not add meaningful information in most cases. Treatment consists of anti-inflammatory medications. Non-steroid anti-inflammatory drugs have limited efficacy, corticosteroid therapy and disease-modifying antirheumatic drugs are usually required. Novel therapeutic approaches, such as anti-tumor necrosis factor blockade and stem cell transplantation, are promising. In this chapter we present clinical and laboratory parameters of 18 patients diagnosed with AOSD at our institution between 1997 and 2003, and review the literature.
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PMID:Adult-onset Still's disease. 1545 25

This prospective study was undertaken to investigate the possibility of a concurrent outbreak of leptospirosis and dengue and to describe the clinical illnesses. From 20 June to 14 November 2002, children who presented to our hospital with a suspected diagnosis of leptospirosis or dengue were admitted. In every child with suspected leptospirosis, a screening latex agglutination test was carried out to detect anti-Leptospira antibodies. The diagnosis of leptospirosis was confirmed by a positive enzyme-linked immunosorbent assay (ELISA) test or microagglutination test. The diagnosis of dengue was confirmed by a positive IgM antibody capture ELISA test. Clinical features in the leptospirosis and leptospirosis-negative groups, and dengue and dengue-negative groups were analysed. Of 90 children screened, 15 (16.7 per cent) had leptospirosis. Two children with Weil's disease died and the remaining 13 responded well to intravenous penicillin. Five clinical features were significantly associated with leptospirosis, namely conjunctival suffusion (p=0.007), haemorrhage (p=0.020), abdominal pain (p=0.011), hepatosplenomegaly (p=0.044), and oedema (p=0.007). As the number of these five features concomitantly present increased, the chances of the child having leptospirosis also increased significantly (p<0.0001). Of 90 children screened, 16 (17.8 per cent) had dengue. All responded well to the treatment and went home. Two clinical features were significantly associated with dengue, namely arthralgia (p=0.020) and thrombocytopenia (p=0.001). If both these features were present, the chances of the child having dengue increased significantly (p=0.001). Our study shows that a concurrent outbreak of leptospirosis and dengue had occurred in the slums of Mumbai city.
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PMID:Concurrent outbreak of leptospirosis and dengue in Mumbai, India, 2002. 1583 70

Adult onset Still's disease (AOSD) is an uncommon acute systemic inflammatory disease of unknown origin. The clinical features include high spiking fever, arthralgia or arthritis, transient maculopapular rash, lymphadenopathy, hepatosplenomegaly, and serositis. Pericarditis is the most common cardiac manifestation of AOSD and occurs in approximately 30% of cases. A simultaneous occurrence of rapidly progressive bi-valvular regurgitation associated with AOSD has not been previously described. We report a case of a 55-year old woman who underwent mitral valve replacement and Bentall's operation due to acute severe mitral and aortic regurgitation associated with AOSD.
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PMID:Adult onset Still's disease as a cause of acute severe mitral and aortic regurgitation. 1629 89

The case of a man with diagnosis of Kikuchi-Fujimoto disease (KFD) and catastrophic antiphospholipid syndrome (CAPS) is reported. He presented prolonged fever, lymphadenopathies, arthralgia, weight loss, hepatosplenomegaly and positive IgM for cytomegalovirus. While he was empirically treated with tuberculostatic drugs, he suddenly developed systemic inflammatory response syndrome, multiple organ failure and distal necrosis. On suspicion of severe sepsis, antibiotics, corticoids and recombinant human activated protein C (XIGRIS) were administrated. Exhaustive laboratory searching was negative. Histopathologic examinations of lymph node first disclosed malignant lymphoma but later KFD was confirmed. One month later, laboratory tests showed the presence of antiphospholipid antibodies (aPL). The patient was discharged after two months of hospitalization. This case exhibits a KFD complicated by definite CAPS. Cytomegalovirus could be involved in the development of both CAPS and KFD. Because of the severity of the case, we believe that XIGRIS noticeable improved the altered coagulation profile associated with CAPS.
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PMID:Catastrophic antiphospholipid syndrome and Kikuchi-Fujimoto disease: the first case reported. 1642 78

Kikuchi-Fujimoto Disease (KFD) was first described in Japan in 1972. The disease frequently mimics tuberculous lymphadenitis, malign lymphoma, and many other benign and malignant conditions. To our knowledge, there is no previous study comparing the clinical and laboratory characteristics of patients from different geographical parts of the world. We searched literature records beginning from 1991 and analyzed epidemiological, clinical, and laboratory data of 244 patients (including cases diagnosed in our institution) reported in 181 publications. Of the 244 cases, 33% were male and 77% were female. Mean age was 25 (1-64) and 70% was younger than 30. Most of the cases were reported from Taiwan (36%), USA (6.6%), and Spain (6.3%). Fever (35%), fatigue (7%) and joint pain (7%) were the most frequent symptoms, while lymphadenomegaly (100%), erythematous rashes (10%), arthritis (5%), hepatosplenomegaly (3%), leucopenia (43%), high erythrocyte sedimentation rate (40%), and anemia (23%) being the most common findings. KFD was associated with SLE (32 cases), non-infectious inflammatory diseases (24 cases), and viral infections (17 cases). SLE was more frequent in cases from Asia than Europe (28 and 9%, respectively). The disease was self-limiting in 156 (64%) and corticosteroid treatment was necessary in 16 (16%) of the cases. The mortality rate was 2.1%. Early diagnosis is crucial as the clinical and laboratory presentation generally imitates situations needing lengthy and costly diagnostic and therapeutic interventions. Additionally, association with SLE needs further investigation.
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PMID:Kikuchi-Fujimoto Disease: analysis of 244 cases. 1653 88

Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis. At least 30 patients with MVA and 180 patients with HIDS have been reported worldwide. MVA is characterized by psychomotor retardation, failure to thrive, progressive cerebellar ataxia, dysmorphic features, progressive visual impairment and recurrent febrile crises. The febrile episodes are commonly accompanied by hepatosplenomegaly, lymphadenopathy, abdominal symptoms, arthralgia and skin rashes. Life expectancy is often compromised. In HIDS, only febrile attacks are present, but a subgroup of patients may also develop neurological abnormalities of varying degree such as mental retardation, ataxia, ocular symptoms and epilepsy. A reduced activity of MVK and pathogenic mutations in the MVK gene have been demonstrated as the common genetic basis in both disorders. In MVA, the diagnosis is established by detection of highly elevated levels of mevalonic acid excreted in urine. Increased levels of immunoglobulin D (IgD) and, in most patients of immunoglobulin A (IgA), in combination with enhanced excretion of mevalonic acid provide strong evidence for HIDS. The diagnosis is confirmed by low activity of mevalonate kinase or by demonstration of disease-causing mutations. Genetic counseling should be offered to families at risk. There is no established successful treatment for MVA. Simvastatin, an inhibitor of HMG-CoA reductase, and anakinra have been shown to have beneficial effect in HIDS.
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PMID:Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. 1672 36

A 59-year-old woman was diagnosed with essential thrombocythemia in 1988 and had been treated with hydroxyurea, mitobronitol, busulfan, and ranimustine, in that order. Hepatosplenomegaly, low-grade fever, and body weight loss manifested, and a few blasts were noted in the peripheral blood studied in March 2002. A biopsied specimen of the bone marrow showed myelofibrosis but not a leukemia in August 2004. An abnormal karyotype with der(1; 13) appeared for the first time. She was treated with low-dose prednisolone. In January 2005, she experienced left hip joint pain, and magnetic resonance scanning showed a tumoral lesion in the femoral head. Histological diagnosis of the biopsied mass revealed that it was a granulocytic sarcoma, and radiotherapy was performed. In April 2005, bone scintigraphy showed multiple lesions. She became febrile and red blood cell transfusion-dependent with hepatosplenomegaly and a small number of circulating blasts. Intravenous cytarabine (low dose) and etoposide relieved the fever and hepatosplenomegaly; however, she developed a pathologic fracture of the right humerus. An additional karyotypic abnormality (7q22 deletion) was noted. She subsequently died of infection. Granulocytic sarcoma is very rare in essential thrombocythemia, and this patient may be the first reported case of essential thrombocythemia that developed multiple lesions and a pathologic fracture without transformation to overt leukemia.
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PMID:Multiple granulocytic sarcomas in essential thrombocythemia. 1718 21

Rickettsia is emerging in the subcontinent and clinically presents as non-specific febrile illness. At present there is no cheap & easily available diagnostic tool in our hand. Beside this, Weil-Felix test is becoming abandoned. So, high index of clinical suspicions is essential to diagnose rickettsia at early stage and to prevent mortality & morbidity. 40 cases were recorded among the admitted febrile patients in MMCH since 2003 to 2005. Cases were selected by clinical suspicions; exclusions of other common febrile illness & thereafter supported by lab. Investigations, specially by positive Weil-felix test. Cases were distributed through out the year but 19 (47.5%) cases were detected in March to May. 12 (30%) cases were found in August to October. The remaining 9 cases were detected in the rest 6 months. All (40) cases were presented with fever (100%), headache was present in 33 (82.5%) cases, rashes were present in 15 (37.5%) cases, isolated splenomegaly was found in 15 (37.5%) cases & hepatosplenomegaly in 12 (30%) cases, arthralgia in 13 (32.5%) cases, lymphadenopathy in 5 (12.5%) cases; 2 (5%) cases attended with unconsciousness & epistaxis in 1 (2.25%) case. Scrub typhus were 19 (47.5%), Indian tick typhus 16 (40%), 5 (12.5%) cases were with dual pathology and were associated with enteric fever. 15 (37.5%) cases were treated with tetracycline only. 20 (50%) cases with only doxyclycline & 5 (12.5%) cases with tetracycline and ceftriaxone as these cases were associated with enteric fever. All patients (100%) cured with treatment.
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PMID:Study on 40 cases of rickettsia. 1734 87

Since prozone is a well known phenomenon in the serologic diagnosis of Brucella infections, it is necessary to prepare higher serum dilutions in the standard tube agglutination (STA) test for the brucellosis suspected patients. However, due to limited economical support, the serum dilutions generally last at 1/320-1/640 titers in some laboratories in Turkey. In this report, a brucellosis case whose STA test was found negative until the titer of 1/1280, has been presented. A 36-year-old female was admitted to our hospital with the complaints of fever, sweating, fatigue, generalized arthralgia and weight loss, lasting for 45 days. Hepatosplenomegaly was detected in the physical examination, and laboratory tests yielded anemia, leucopenia, elevated erythrocyte sedimentation rate and high C-reactive protein levels. Although brucellosis was suspected, Brucella STA test was found negative at 1/640 titer. On the sixth day of admission, Brucella melitensis was isolated from her blood culture. Since a positive result at 1/40 titer was detected in Brucella STA test with the use of Coombs antiserum, the patient's serum was retested at higher dilutions than 1/640, and positive result was obtained starting from 1/1280 dilution and extended to 1/5120 titer. The patient was treated with rifampin and doxycyline and discharged with complete cure. In conclusion, in countries endemic for brucellosis, STA test should be performed at 1/1280 or higher titrations in suspected patients especially in the presence of negative culture results, for the prevention of false negative results due to prozone phenomenon.
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PMID:[A case of brucellosis presenting as high titer negative result by standard tube agglutination test]. 1742 66

Most of the primary infections caused by Epstein-Barr virus in children are asymptomatic. In symptomatic patients, clinical presentation is variable. We describe 33 patients admitted to Suleimania Children's Hospital, Riyadh from 1409 too 1411H (1988 to 1990G) with acute primary infection caused by Epstein-Barr virus. The clinical presentation was mostly with upper respiratory tract infection, fever, lymphadenopathy, and hepatosplenomegaly. Three patients had arthralgia and three had neurological manifestations. Only four patients had atypical lymphocytes > 10%. Elevated serum alanine and aspartate aminotransferase levels were found in about 54.55 of the patients.
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PMID:The spectrum of acute Epstein-Barr virus infection in Saudi children. 1758 19


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