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)

Chronic liver disease is often accompanied by hypoxaemia. We investigated the clinical factors that were related to the arterial oxygen tension (PaO2) in 40 women, all non-smokers with chronic liver disease. They were positive for hepatitis C virus (HCV) antibody and had no evidence of cardiopulmonary disease. Arterial blood was collected from patients at rest (> 15 min) for analysis of blood gases. We determined the correlation between blood gas tension and the clinical variables, i.e. the presence or absence of skin manifestations such as cutaneous spider nevi and palmar erythema, the presence or absence of splenomegaly, vital capacity, forced expiratory volume in one second, V25/body height, serum alanine aminotransferase (AST), serum asparate aminotransferase (ALT), serum cholinesterase, serum gamma-globulin/total protein, excretion of indocyanine green at 15 min (15-min retention rate, ICG level), blood level of ammonia, blood level of endotoxin, plasma level of glucagon and the serum level of type IV collagen-7S. The mean level of PaO2 was 78 +/- 11 (range: 43-95) torr. The mean alveolar-arterial oxygen tension gradient (A-aDO2) was 19 +/- 13 (range: 2-60) torr. Multiple regression analysis used PaO2 and A-aDO2 as objective variables, and the clinical findings as explanatory variables. The explanatory variables that were significantly correlated with blood gas values were ICG level, blood level of endotoxin and presence of skin manifestations. The ICG level showed a high correlation with blood gas values; the ICG level increased, the PaO2 decreased (r = -0.69), while the A-aDO2 showed a high positive correlation (r = +0.78, P < 0.001). Findings suggest that a reduction in hepatic blood flow and hepatocellular function interfere with the inactivation of vasoactive substances such as endotoxin by the liver, leading to the development of skin manifestations, the dilatation of intrapulmonary capillaries and the induction of hypoxaemia.
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PMID:Clinical factors that affect blood gases in non-smoking women with chronic liver disease. 951 26

We report a 26-year-old woman who was diagnosed with Budd-Chiari syndrome following consultation for a skin nodule in the lower extremity. Histopathological examination of a biopsy specimen showed features of erythema induratum. As part of the diagnostic work-up, chest roentgenography performed to rule out possible tuberculosis showed enlarged right lower mediastinum. Computed tomography identified a dilated azygos vein and obstruction of the inferior vena cava near the liver. Liver function tests and blood cell counts were all within normal limit and no sign of portal hypertension was noted except for mild splenomegaly. Although angioplasty by balloon catheter resulted in recanalization of the obstructed inferior vena cava, obstruction of the inferior vena cava appeared again 2 months later. One-stage surgical reconstruction of the vascular abnormalities affecting inferior vena cava and hepatic vein using autologous pericardial patch was performed 11 months after angioplasty, which resulted in normalization of blood flow. Examination of a liver biopsy obtained intraoperatively revealed hepatic fibrosis compatible with early-stage Budd-Chiari syndrome. No complications were noted postoperatively and the nodular lesion in the lower extremity disappeared after surgery.
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PMID:Early diagnosis and radical surgical treatment of Budd-Chiari syndrome. 1239 63

The ability of the synthetic retinoid MDI-301, in which the carboxylic acid of 9- cis-retinoic acid (9-cis-RA) is replaced with an ester linkage, to induce epidermal and dermal thickening and skin irritation (erythema and flaking) in hairless (rhino) mice following its topical application was investigated in comparison with that of 14-all- trans-retinoic acid (14-all-trans-RA) and 9-cis-RA. MDI-301 induced epidermal proliferation leading to a thickened epidermis. Treated animals also demonstrated a prominent band of organized connective tissue immediately below the epidermis. In its ability to induce epidermal thickening, MDI-301 was quantitatively similar to 14-all-trans-RA and 9-cis-RA. However, unlike 14-all-trans-RA and 9-cis-RA, which produced skin irritation associated with a perivascular influx of mononuclear leukocytes into the dermis, there was no evidence of irritation with MDI-301 and little leukocyte infiltration. Intraperitoneal injection of either 14-all-trans-RA or MDI-301 also resulted in epidermal and dermal thickening. Irritation of skin was not observed in these animals but splenomegaly was prominent in animals treated with either agent.
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PMID:Separation of retinoid-induced epidermal and dermal thickening from skin irritation. 1456 58

The characteristic rash of systemic juvenile idiopathic arthritis is a transient erythematous eruption associated with a quotidian spiking fever. Usually asymptomatic, it can be pruritic, with dermatographism at sites of scratching or pressure. An illness similar to this entity in adults is designated adult-onset Still disease. The relationship between the pediatric and adult disease is uncertain and differences in case definition have evolved. Specifically, a sustained arthritis for at least 6 weeks is required for a diagnosis of systemic juvenile idiopathic arthritis, whereas transient arthritis and arthralgia are accepted criteria in adult-onset Still disease. We describe five patients less than 16 years of age who presented with an acute illness characterized by fever and a distinctive skin eruption. Intense pruritus and linear erythematous lesions flared with a spiking fever, usually in the late afternoon and evening. Periorbital edema/erythema and nonlinear urticarial lesions were also seen. Two children had splinter hemorrhages of the nail beds and one girl developed a fixed, scaling, pigmented, linear eruption. Severe malaise, myalgia, arthralgia, and leukocytosis were present in every patient. Other systemic manifestations included sore throat, transient arthritis, abdominal pain, lymphadenopathy, hepatomegaly, splenomegaly, hyperferritinemia, and hepatic dysfunction. No patient had a sustained arthritis. The course of the disease was variable. One patient, diagnosed with macrophage activation syndrome, recovered on oral naproxen. Two patients responded to systemic corticosteroid therapy. One girl developed status epilepticus and died from aspiration and asphyxia. A boy with severe hepatitis developed renal failure and thrombotic thrombocytopenic purpura and was treated with plasmapheresis, dialysis, and systemic corticosteroids; he had recurrent episodes of rash and fever into adult life. These children did not fulfill the case definition of systemic juvenile idiopathic arthritis because they lacked a persistent arthritis. Adolescent and adult patients with the same clinical and laboratory findings are described under the rubric of adult-onset Still disease. Recognition of the distinctive urticarial skin eruption and spiking fever is important in the diagnosis of a disease with severe morbidity and potentially life-threatening complications.
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PMID:A pruritic linear urticarial rash, fever, and systemic inflammatory disease in five adolescents: adult-onset still disease or systemic juvenile idiopathic arthritis sine arthritis? 1546 68

We report a 6-year-old boy who was diagnosed as having neuron-specific enolase (NSE)-positive pro-T cell type lymphoblastic lymphoma preceded with a variety of symptoms such as skin rash, giant splenomegaly, and hyper-gamma globulinemia. He first showed cervical lymphadenopathy in June 1999, followed by a fever of unknown origin with atypical erythema, hepatosplenomegaly, and a few lymphoblastoid cells present in the bone marrow in September. However, no specific treatments were started at this point because a cervical lymph node biopsy failed to show malignancy and the patient's signs and symptoms resolved spontaneously. Two months later, oral prednisolone therapy was started due to recurrence of the fever and erythema, but resulted in exacerbation of the skin lesions and generalized lymphadenopathy. A biopsy of the right inguinal lymph node performed in January 2000 revealed proliferation of lymphoblastic cells positive for CD3, CD5 and NSE with a rearrangement of T cell receptor gene Jdelta, leading to the diagnosis of lymphoblastic lymphoma. After intensified chemotherapy, he received an autologous peripheral blood stem cell transplantation and has been in complete remission for 4 years.
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PMID:[NSE-positive lymphoblastic lymphoma in a boy with cutaneous involvement, giant splenomegaly, and hyper-gamma globulinemia]. 1567 16

The aim of the study was the comparison of clinical, laboratory end instrumental data between systemic lupus erythematosus (SLE) end infectious endocarditis (IE) for analysis of similar and different features. Clinical, laboratory and instrumental data were analysed and compared for 96 SLE and 23 IE patients. SLE and IE have the following common features: fever, pleurisy, pericarditis, myocarditis hemorrhagic vasculitis, renal disorders, anaemia, concentrations of circulating immune complex (CIC), IgM. Characteristic of SLE were skin erythema, alopecia, cerebrovasculitis, lymhadenopathy, pneumonitis, frequent articular lesions, pancytopenia, high IgG levels, and antibodies to DNA. After echocardiographic investigations a rare revelation of the damage of endocardium, and the lack of destruction of the valve were detected. IE was characterized by thromboembolic complications, splenomegaly, pneumonia, high IgM levels, high incidence rate of RF, positive hemoculture. By echocardiographic studies bacterial vegetations end valvular pathology were detected. These data gives us the possibility for early differential diagnostics of these two diseases.
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PMID:[Parallels in clinical, laboratory and instrumental data between systemic lupus erythematosus and infectious endocarditis in children]. 1651 Sep 20

The aim of the present study was to evaluate the clinical features of childhood-onset Familial Mediterranean fever (FMF) patients and to assess the phenotype-genotype correlation. The study included patients with childhood-onset FMF that followed up over a period of 18 years in the Division of Pediatric Allergy and Immunology clinic. Twelve MEFV mutations were investigated in all patients. The patients were classified into four groups according to mutations: 1, M694V homozygote; 2, M694V heterozygote; 3, compound heterozygote for M694V; and 4, other-other gene mutation group. The following parameters were evaluated: gender, age of onset, age at diagnosis, time interval between disease onset and diagnosis, fever, abdominal pain, chest pain, arthralgia, arthritis, myalgia, vomiting, diarrhea, constipation, headache, erysipela-like erythema, protracted febrile myalgia, splenomegaly, hepatomegaly, consanguinity, number of attacks before and after treatment, severity score, response to colchicine treatment. Of the 124 patients included in the study, 105 had at least one MEFV gene mutation. M694V homozygosity was the most common mutation, followed by M694V heterozygotes and M694V-M680I compound heterozygotes. Severity score was found significantly higher in patients with M694V homozygote and compound heterozygote for M694V compared with other groups. The data supported the findings in literature that FMF patients with M694V homozygote and compound heterozygote for M694V gene mutations experience a more severe clinical course.
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PMID:The clinical and genetical features of 124 children with Familial Mediterranean fever: experience of a single tertiary center. 1911 56

Kawasaki's disease is a disease of unknown cause. The characteristic clinical features of Kawasaki's disease are fever> or =102 degrees F for> or =5 days accompanied by a bilateral bulbar conjunctivitis/conjunctival suffusion, erythematous rash, cervical adenopathy, pharyngeal erythema, and swelling of the dorsum of the hands/feet. Kawasaki's disease primarily affects children and is rare in adults. In children, Kawasaki's disease is more likely to be associated with aseptic meningitis, coronary artery aneurysms, and thrombocytosis. In adult Kawasaki's disease, unilateral cervical adenopathy, arthritis, conjunctival suffusion/conjunctivitis, and elevated serum transaminases (serum glutamic oxaloacetic transaminase [SGOT]/serum glutamate pyruvate transaminase [SGPT]) are more likely. Kawasaki's disease in adults may be mimicked by other acute infections with fever and rash, that is, group A streptococcal scarlet fever, toxic shock syndrome (TSS), and Rocky Mountain Spotted Fever (RMSF). Because there are no specific tests for Kawasaki's disease, diagnosis is based on clinical criteria and the syndromic approach. In addition to rash and fever, scarlet fever is characterized by circumoral pallor, oropharyngeal edema, Pastia's lines, and peripheral eosinophilia, but not conjunctival suffusion, splenomegaly, swelling of the dorsum of the hands/feet, thrombocytosis, or an elevated SGOT/SGPT. In TSS, in addition to rash and fever, there is conjunctival suffusion, oropharyngeal erythema, and edema of the dorsum of the hands/feet, an elevated SGOT/SGPT, and thrombocytopenia. Patients with TSS do not have cervical adenopathy or splenomegaly. RMSF presents with fever and a maculopapular rash that becomes petechial, first appearing on the wrists/ankles after 3 to 5 days. RMSF is accompanied by a prominent headache, periorbital edema, conjunctival suffusion, splenomegaly, thrombocytopenia, an elevated SGOT/SGPT, swelling of the dorsum of the hands/feet, but not oropharyngeal erythema. We present a case of adult Kawasaki's disease with myocarditis and splenomegaly. The patient's myocarditis rapidly resolved, and he did not develop coronary artery aneurysms. In addition to splenomegaly, this case of adult Kawasaki's disease is remarkable because the patient had highly elevated serum ferritin levels of 944-1303 ng/mL; (normal<189 ng/mL). To the best of our knowledge, this is the first report of adult Kawasaki's disease with highly elevated serum ferritin levels. This is also the first report of splenomegaly in adult Kawasaki's disease. We conclude that Kawasaki's disease should be considered in the differential diagnosis in adult patients with rash/fever for> or =5 days with conjunctival suffusion, cervical adenopathy, swelling of the dorsum of the hands/feet, thrombocytosis and otherwise unexplained highly elevated ferritin levels.
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PMID:Adult Kawasaki's disease with myocarditis, splenomegaly, and highly elevated serum ferritin levels. 2020 78

Von Hippel Lindau (Vhl) gene inactivation results in embryonic lethality. The consequences of its inactivation in adult mice, and of the ensuing activation of the hypoxia-inducible factors (HIFs), have been explored mainly in a tissue-specific manner. This mid-gestation lethality can be also circumvented by using a floxed Vhl allele in combination with an ubiquitous tamoxifen-inducible recombinase Cre-ER(T2). Here, we characterize a widespread reduction in Vhl gene expression in Vhl(floxed)-UBC-Cre-ER(T2) adult mice after dietary tamoxifen administration, a convenient route of administration that has yet to be fully characterized for global gene inactivation. Vhl gene inactivation rapidly resulted in a marked splenomegaly and skin erythema, accompanied by renal and hepatic induction of the erythropoietin (Epo) gene, indicative of the in vivo activation of the oxygen sensing HIF pathway. We show that acute Vhl gene inactivation also induced Epo gene expression in the heart, revealing cardiac tissue to be an extra-renal source of EPO. Indeed, primary cardiomyocytes and HL-1 cardiac cells both induce Epo gene expression when exposed to low O(2) tension in a HIF-dependent manner. Thus, as well as demonstrating the potential of dietary tamoxifen administration for gene inactivation studies in UBC-Cre-ER(T2) mouse lines, this data provides evidence of a cardiac oxygen-sensing VHL/HIF/EPO pathway in adult mice.
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PMID:Acute Vhl gene inactivation induces cardiac HIF-dependent erythropoietin gene expression. 2181 36

Systemic lupus erythematosus and Still's disease are chronic autoimmune disorders of unknown etiology. Symptomatology of these diseases may be similar causing diagnostic difficulties. Long-term observation and immunological studies are essential to identify the definite disorder. We present a case of a 24-year-old patient with high fever, sore throat and arthritis. During hospitalization rash accompanying fever, nodular erythema, pulmonary changes, liver damage and splenomegaly were observed. Although initially adult-onset Still's disease was diagnosed according to the Yamaguchi criteria, the diagnosis of systemic lupus erythematosus was made after re-analysis of the clinical course and immunological tests.
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PMID:[Still's disease or systemic lupus erythematosus in a young adult patient--diagnostic doubts]. 2185 81


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