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501.
Biju Vasudevan Amitabh Sagar Ashish Bahal AP Mohanty 《Medical Journal Armed Forces India》2012,68(1):20-27
Background
Cutaneous manifestations are early and easily identifiable markers of human immunodeficiency virus (HIV) infection. They can help in predicting severity and progress of the disease and can be correlated well with CD4 counts. This study was undertaken to study the cutaneous manifestations of HIV infection and to correlate them with CD4 counts. It also aimed to study the changing spectrum of these manifestations and describe cutaneous manifestations seen in advanced disease.Method
A total of 234 HIV-positive patients not on anti-retroviral therapy, who attended the outpatient department or were admitted as inpatients at Military Hospital, Shillong during the period between May 2008 and October 2009 were included. Cutaneous, mucosal, and genitourinary manifestations in these patients were studied in detail and were correlated with CD4 counts.Results
Infections were the most common group of mucocutaneous manifestations, while onychomycosis was the commonly observed individual manifestation. A different set of cutaneous markers for advanced HIV disease was observed and new parameters for therapy were also arrived at.Conclusion
Specific morphological variants of cutaneous markers may provide a better clue to early diagnosis of HIV and can help in diagnosing advanced stages of the disease. Fresh cutaneous markers are required for indicating cut-off levels of CD4 count at 350/μL for starting therapy.Key Words: AIDS, CD4 count, cutaneous manifestations, HIV 相似文献502.
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain 总被引:6,自引:2,他引:6
Ross ME; Allen KM; Srivastava AK; Featherstone T; Gleeson JG; Hirsch B; Harding BN; Andermann E; Abdullah R; Berg M; Czapansky-Bielman D; Flanders DJ; Guerrini R; Motte J; Mira AP; Scheffer I; Berkovic S; Scaravilli F; King RA; Ledbetter DH; Schlessinger D; Dobyns WB; Walsh CA 《Human molecular genetics》1997,6(4):555-562
While disorders of neuronal migration are associated with as much as 25% of
recurrent childhood seizures, few of the genes required to establish
neuronal position in cerebral cortex are known. Subcortical band
heterotopia (SBH) and lissencephaly (LIS), two distinct neuronal migration
disorders producing epilepsy and variable cognitive impairment, can be
inherited alone or together in a single pedigree. Here we report a new
genetic locus, XLIS, mapped by linkage analysis of five families and
physical mapping of a balanced X;2 translocation in a girl with LIS.
Linkage places the critical region in Xq21-q24, containing the breakpoint
that maps to Xq22.3-q23 by high-resolution chromosome analysis. Markers
used for somatic cell hybrid and fluorescence in situ hybridization
analyses place the XLIS region within a 1 cM interval. These data suggest
that SBH and X-linked lissencephaly are caused by mutation of a single
gene, XLIS, that the milder SBH phenotype in females results from random
X-inactivation (Lyonization), and that cloning of genes from the breakpoint
region on X will yield XLIS.
相似文献
503.