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Diagnostic Test Used (diagnostic + test_used)
Selected AbstractsDiagnostic tests used in the investigation of adult haematuria: a systematic reviewBJU INTERNATIONAL, Issue 6 2006Mark A. Rodgers First page of article [source] The Spectrum of Skin Disease Among Indian ChildrenPEDIATRIC DERMATOLOGY, Issue 1 2009D.N.B., Kabir Sardana M.D., M.N.A.M.S. A retrospective study was designed to evaluate the epidemiologic features of pediatric dermatoses in India. The setting was a tertiary care referral center in India (Kalawati Saran Children's Hospital, New Delhi) during January 1997 to December 2003. A total of 30,078 children less than 12 years of age with 32,341 new dermatoses were recorded, with a male to female ratio of 1.07:1. Most of the disease was seen in the 1- to 5-year age group (44.94%). The most common skin diseases were infections and infestations (47.15%) consisting of bacterial infections (58.09%) and scabies (21.54%), followed by eczemas (26.95%), infantile seborrheic dermatitis, scabies, and pityriasis alba. Other unique dermatoses in our settings were papular uticaria (3.59%), miliaria (5.46%), postinflammatory pigmentary abnormalities (1.68%), and nutritional deficiency dermatoses (0.45%). A majority of patients were diagnosed clinically and special diagnostic tests were conducted in 2.6% of patients. The most common diagnostic test used was KOH mount (59.2%), followed by skin biopsy (39%). Nearly 90% of patients were seen without any referral and in the remaining, a majority were referred by pediatricians (75%). A majority of patients were diagnosed to have infection followed by dermatitis in our setting. [source] Mutations in GCK and HNF-1, explain the majority of cases with clinical diagnosis of MODY in SpainCLINICAL ENDOCRINOLOGY, Issue 4 2007Itziar Estalella Summary Objective, The aim of this study was to group patients with MODY (maturity-onset diabetes of the young) according to the genetic alterations underlying the disease and to investigate their clinical characteristics. Patients and methods, Molecular analysis of GCK (MODY2), HNF-1, (MODY3), HNF-4, (MODY1) and HNF-1, (MODY5) genes was performed by DNA sequencing in 95 unrelated index probands (47M/48F; mean age 9·9 ± 5·2 years) with clinical diagnosis of MODY. After classification into MODY subtypes according to the genetic alterations, clinical characteristics were compared between the groups. Results, Seventy-six families were shown to carry mutations in GCK (34 of them previously unreported), eight families presented HNF-1, mutations, and a large genomic rearrangement in HNF-1, was found in a family. No alteration was found in HNF-4,. Thus, relative frequencies in the group studied were 80% MODY2, 8·5% MODY3 and 1% MODY5. Comparison of clinical parameters according to genetic status showed significant differences between MODY2 and MODY3 patients in age at diagnosis (9·4 ± 5·4 years vs. 12·7 ± 4·6 years), diagnosis (impaired glucose tolerance vs. diabetes), diagnostic test used (OGTT vs. fasting glucose), treatment (diet and exercise vs. insulin/oral antidiabetic agents) and birth weight (2·96 ± 0·44 kg vs. 3·40 ± 0·67 kg). Conclusion, Almost 90% of the MODY cases in the group studied are explained by mutations in the major genes GCK (MODY2) and HNF-1,(MODY3), although differences in the relative prevalence of each form could be partly due to patient referral bias (paediatric vs. adult). In general, patients with MODY2 were diagnosed at an earlier age in life than MODY3 patients and had a milder form of diabetes. Moreover, the majority of patients with MODY2 mutations were treated with diet whereas half of MODY3 patients received pharmacological treatment. [source] Primary necrotizing lymphocytic central nervous system vasculitis due to perforin deficiency in a four-year-old girlARTHRITIS & RHEUMATISM, Issue 3 2007Despina Moshous We report the case of a 4-year-old girl who presented with headaches, ataxia, and visual disturbances. Cranial magnetic resonance imaging showed multiple supra- and infratentorial lesions with peripheral contrast enhancement and central necrosis. Brain biopsy revealed necrotizing lymphocytic vasculitis of undetermined etiology. Perforin expression was found to be significantly reduced in the patient's peripheral blood cells, and sequence analysis of the patient's perforin gene showed a compound heterozygous state with 1 nonsense mutation and 2 missense alterations in exon 2. Central nervous system (CNS) vasculitis was thus attributed to the perforin deficiency, and the patient was successfully treated by transplantation of stem cells from an HLA-identical brother. The findings described herein indicate that, even in the absence of classic non-neurologic symptoms of hemophagocytic lymphohistiocytosis, measurement of perforin expression should be one of the diagnostic tests used to identify the cause of unexplained CNS vasculitis, since this may have profound implications regarding therapy. [source] | ||||||||||