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Dominant Fashion (dominant + fashion)

Distribution by Scientific Domains
Medical Sciences60%
Life Sciences40%

Kinds of Dominant Fashion

  • autosomal dominant fashion
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    Selected Abstracts

    Familial trends of inheritance in gastro esophageal reflux disease, Barrett's esophagus and Barrett's adenocarcinoma: 20 families

    DISEASES OF THE ESOPHAGUS, Issue 1 2007
    R. S. Sappati Biyyani
    SUMMARY., We reported four families with familial Barrett's esophagus (FBE) in 1993. This follow-up study includes an additional 16 families with FBE, gastroesophageal reflux disease (GERD) and BE-related adenocarcinoma (BEAC) highlighting the familial trends of inheritance. A retrospective survey of endoscopic and histopathological reports on 95 confirmed cases of BE from 1975 to 2005 was performed and a detailed family history was obtained. Five representative pedigrees from a total of 20 are discussed here. These 20 families represent one of the largest cohorts studied over three decades from a single institution. Familial BE is more common than previously thought and the prevalence of GERD, BE and BEAC in these families is distinctly higher than with sporadic cases. The conditions appear to be inherited in an autosomal dominant fashion with incomplete penetrance. Hence diligence in taking family history with BE patients is critical since the endoscopic screening of relatives is warranted in FBE. Earlier diagnosis and surveillance of FBE should hopefully improve outcomes. [source]

    Myotonic dystrophy and paediatric anaesthesia

    PEDIATRIC ANESTHESIA, Issue 2 2003
    DRCOG, R.J. WHITE MBBS
    Myotonic dystrophy is a neuromuscular condition inherited in an autosomal dominant fashion, and is most commonly diagnosed in the neonatal period. With improving levels of care, these patients are now presenting more commonly for anaesthesia. We review the clinical features of the condition, and then discuss the steps in the anaesthetic process, outlining the anaesthetic implications of myotonic dystrophy at each stage. [source]

    Testing for Genetic Association With Constrained Models Using Triads

    ANNALS OF HUMAN GENETICS, Issue 2 2009
    J. F. Troendle
    Summary It has been shown that it is preferable to use a robust model that incorporated constraints on the genotype relative risk rather than rely on a model that assumes the disease operates in a recessive or dominant fashion. Previous methods are applicable to case-control studies, but not to family based studies of case children along with their parents (triads). We show here how to implement analogous constraints while analyzing triad data. The likelihood, conditional on the parents genotype, is maximized over the appropriately constrained parameter space. The asymptotic distribution for the maximized likelihood ratio statistic is found and used to estimate the null distribution of the test statistics. The properties of several methods of testing for association are compared by simulation. The constrained method provides higher power across a wide range of genetic models with little cost when compared to methods that restrict to a dominant, recessive, or multiplicative model, or make no modeling restriction. The methods are applied to two SNPs on the methylenetetrahydrofolate reductase (MTHFR) gene with neural tube defect (NTD) triads. [source]

    Facial porokeratosis: A series of six patients

    AUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 3 2010
    Ericson L Gutierrez
    ABSTRACT Porokeratosis is a disorder of epidermal keratinization characterized by annular plaques with an atrophic centre and hyperkeratotic edges, and includes a heterogeneous group of disorders that are mostly inherited in an autosomal dominant fashion. Facial porokeratosis is rare and is not well documented. We present six cases of facial porokeratosis seen over a period of 15 years in a hospital in Lima, Peru. In most of the cases, porokeratosis was found in younger women without any significant past medical history. Oral isotretinoin showed moderate improvement in two of our patients. [source]

    Psychological aspects of pre-symptomatic testing for Machado,Joseph disease and familial amyloid polyneuropathy type I

    CLINICAL GENETICS, Issue 4 2006
    L Rolim
    Machado,Joseph disease [MJD, also spinocerebellar ataxia type 3 (SCA3)] and familial amyloid polyneuropathy type I (FAP-I or ATTR V30M) are neurodegenerative disorders, inherited in an autosomal dominant fashion, which have a high prevalence in Portugal, probably due to a founder effect. MJD and FAP-I are late-onset diseases, with symptoms emerging usually during adulthood. CGPP, which is the national reference centre for these disorders, has a genetic lab that offers diagnostic, pre-symptomatic and prenatal testing and an outpatient clinic to counsel and follow relatives at risk for hereditary ataxias, FAP-I and Huntington disease (HD). The present work is a review of our 10-year experience with psychological counselling of individuals at risk for MJD and FAP-I. Persons at risk for FAP-I may show a better response to pre-symptomatic testing than those who are at risk for MJD and HD because of the availability of liver transplantation, which may improve their health and life expectancy. Psychological well-being and specific distress of MJD and FAP-I test applicants, before undergoing genetic testing (baseline level) and 3 to 6 months after disclosure of test results, have shown a low level of change, both in identified carriers and non-carriers. A major goal of psychological characterization of at-risk individuals for MJD and FAP-I is to determine the factors that influence the uptake of genetic testing. [source]