Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0684275 (haemophilia)
 10,958 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

There is a paucity of published information available on extrapulmonary cryptococcosis (EC) in children infected with human immunodeficiency virus, the etiologic agent of the acquired immunodeficiency syndrome. We surveyed investigators in pediatric acquired immunodeficiency syndrome around the country regarding their experience with EC. Investigators from 33 (87%) of 38 institutions responded and information on 13 patients from 11 institutions was analyzed. EC was the acquired immunodeficiency syndrome indicator disease in 9 (69%) of 13 patients. Median age was 8 years with a range of 2 to 17 years. Human immunodeficiency virus risk factors were transfusion (5 patients), hemophilia (4 patients) and perinatal exposure (4 patients). Meningitis, seen in 62% of patients, was the most common clinical manifestation. Although 2 patients with fulminant disease died before therapy was started, 10 (91%) of 11 had a clinical response to amphotericin B with or without flucytosine. Our study indicates a spectrum of EC in pediatric human immunodeficiency virus infection ranging from fulminant, fatal fungemia to chronic meningitis and fever of unknown origin. Cryptococcosis was generally not the cause of death in patients who initially responded to amphotericin B therapy. Optimal antifungal therapy, including the role of fluconazole, warrants further study.
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PMID:Extrapulmonary cryptococcosis in children with acquired immunodeficiency syndrome. 192 78

This is a report on the clinical courses and pathological findings in two gay male patients with acquired immunodeficiency syndrome (AIDS) infected in Japan. Case 1. A 39 year-old Japanese homosexual male was diagnosed as amebic dysentery complicated with liver abscess on admission. He was placed on Metronidazole with complete relief. Serological tests was positive for AIDS. On second admission, he was found to have pneumocystis carinii pneumonia (PCP) and cytomegalo-viral uveitis. Administration of Pentamidine was partially effective, however the therapy with Azidothimidine was discontinued by bone marrow suppression. On his third admission, he suffered from cryptococcal meningitis and therapy-resistant fungusemia. Finally he died of recurrent pneumonia regardless of appropriate therapies. Autopsy proved extended cryptococcal infection in the brain, meninx, lungs, liver and kidney, and cytomegalo-infection in the lungs, liver and kidney. Furthermore, atypical mycobacteriosis was found in the lymph nodes. There was no active findings compatible with PCP. Case 2. A 44 year-old Japanese homosexual male was admitted with oral candidiasis and diagnosed as AIDS related complex. He suffered from pneumonia with marked improvement on sulfamethoxazole-Trimethoprim. On his second admission, he developed diarrhea and was found to be infected with Giardia lambia. In addition, cytomegalo-viral infection damaged his eye sight. He died of pneumonia and meningitis shortly there after. Autopsy proved a cytomegalo-viral infection in the lung and colon, old lesions possibly caused by PCP in the lungs, and suppurative meningitis in the meninx. These experiences confirm that AIDS patients can be exposed to several opportunistic infections at the same time in the multiple organs. Furthermore, it is suggested that homosexual patients with AIDS may have unique opportunistic infections such as amebic dysentery or Giardia lamblia unlike other AIDS patients related to hemophilia.
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PMID:[Clinical courses and pathological findings in two gay male patients with acquired immunodeficiency syndrome infected in Japan]. 233 6

Twenty cases of Group A beta-hemolytic streptococcal bacteremia in children diagnosed between 1980 and 1987 are reported. Most cases occurred during the winter. The skin and soft tissues were the most common sources of the Group A beta-hemolytic streptococcal bacteremia. Three patients died. Two separate groups of children were observed: (1) a group of 12 young, well-nourished, previously healthy infants, who did not generally develop focal complications and had a favorable course; (2) a group of 8 older children suffering from malnutrition and underlying diseases, such as psychomotor retardation, infected hemangiomata, hemophilia and acute hepatitis B who commonly had focal infections such as pneumonia, meningitis or arthritis/osteomyelitis and had a worse prognosis. M protein-typable strains traditionally related to Group A beta-hemolytic Streptococcus virulence were an inconstant finding in this series.
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PMID:Group A beta-hemolytic streptococcal bacteremia in children. 332 Sep 30

Early, ideally pre-symptomatic, recognition of common diseases (e.g., heart disease, cancer, diabetes, Alzheimer's disease) facilitates early treatment or lifestyle modifications, such as diet and exercise. Sensitive, specific identification of diseases using blood samples would facilitate early recognition. We explored the potential of disease identification in high dimensional blood microRNA (miRNA) datasets using a powerful data reduction method: principal component analysis (PCA). Using Qlucore Omics Explorer (QOE), a dynamic, interactive visualization-guided bioinformatics program with a built-in statistical platform, we analyzed publicly available blood miRNA datasets from the Gene Expression Omnibus (GEO) maintained at the National Center for Biotechnology Information at the National Institutes of Health (NIH). The miRNA expression profiles were generated from real time PCR arrays, microarrays or next generation sequencing of biologic materials (e.g., blood, serum or blood components such as platelets). PCA identified the top three principal components that distinguished cohorts of patients with specific diseases (e.g., heart disease, stroke, hypertension, sepsis, diabetes, specific types of cancer, HIV, hemophilia, subtypes of meningitis, multiple sclerosis, amyotrophic lateral sclerosis, Alzheimer's disease, mild cognitive impairment, aging, and autism), from healthy subjects. Literature searches verified the functional relevance of the discriminating miRNAs. Our goal is to assemble PCA and heatmap analyses of existing and future blood miRNA datasets into a clinical reference database to facilitate the diagnosis of diseases using routine blood draws.
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PMID:Principal component analysis of blood microRNA datasets facilitates diagnosis of diverse diseases. 3250 86