نتایج جستجو برای: 46xy dsd

تعداد نتایج: 1104  

Background: Disorders of sex development (DSD) are a medical condition that affects the normal process of sexual  Various of the genes needed for gonad development have been identified by investigation of patients with disorders sex development (DSD).Phenotypes of patients with 46,XY DSD range from atonalism in female phenotype with complete external  genitalia to male phenotype with testicular...

2017
Robert Röhle Katharina Gehrmann Maria Szarras-Czapnik Hedi Claahsen-van der Grinten Catherine Pienkowski Claire Bouvattier Peggy Cohen-Kettenis Anna Nordenström Ute Thyen Birgit Köhler Birgit Köhler Peggy Cohen-Kettenis Annelou de Vries Wiebke Arlt Claudia Wiesemann Jolanta Slowikowska-Hilczer Aude Brac de la Perriere Charles Sultan Francoise Paris Claire Bouvattier Ute Thyen Nicole Reisch Annette Richter-Unruh Hedi Claahsen-van der Grinten Anna Nordenström Catherine Pienkowski Maria Szarras-Czapnik

BACKGROUND dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality. METHODS/DESIGN The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health a...

2009
Charlotte E. Wainwright Ming Xue Guifu Zhang Daniel T. Dawson

It is clear that in order to accurately model convective scale events, we require the most accurate microphysical schemes possible. However this need for detailed microphysical parameterization must be balanced with the computational expense that such detailed parameterizations require. A new way of calculating the drop-size distribution (DSD) parameters in the single moment (hereafter SM) and ...

Journal: :Bipolar disorders 2010
Radha B Nadkarni Mary A Fristad

OBJECTIVE To assess rates of conversion to bipolar spectrum disorder (BPSD) and risk factors associated with conversion in children with depressive spectrum disorders (DSD) and transient manic symptoms (TMS) over 18 months. TMS are manic-like symptoms of insufficient duration or number to warrant a diagnosis of BPSD. METHODS Participants were 165 children (mean = 9.9 years, SD = 1.3) with moo...

2014
V. Kulkarni

6 Visual DSD code for PI controller implementations 13 6.1 Chemical Reaction Network implementation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 13 6.2 4Domain DNA Strand Displacement implementation . . . . . . . . . . . . . . . . . . . . . . . . . . 16 6.2.1 Initial Conditions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19 6.2.2 Reac...

2014
Gyung Min Lee Jung Min Ko Choong Ho Shin Sei Won Yang

The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% of patients with 46,XX testicular DSD are SRY-negative. The SRY-box 9 (SOX9) gene has se...

1999
Dennis Heimbigner Richard S. Hall Alexander L. Wolf

Configuring and deploying a large software system is complicated when the system is composed of components and when there are numerous possible configurations for the system. In such a scenario, it is difficult for end-users to specify and install an appropriate configuration for their specific environment. Defining all valid configurations of a software system is challenging, and can be addres...

2011
Halley P Crissman Lauren Warner Melissa Gardner Meagan Carr Aileen Schast Alexandra L Quittner Barry Kogan David E Sandberg

BACKGROUND Clinical research on psychological aspects of disorders of sex development (DSD) has focused on psychosexual differentiation with relatively little attention directed toward parents' experiences of early clinical management and their influence on patient and family psychosocial adaptation. OBJECTIVES To characterize parental experiences in the early clinical care of children born w...

2016
Enver Şimşek Çiğdem Binay Meliha Demiral Baran Tokar Sare Kabukçuoğlu Melek Üstün

Ovotesticular disorder of sexual development (DSD), formerly known as true hermaphroditism, is a rare form of DSD in which both testicular and ovarian tissues are present in the same individual either in a single gonad (ovotestis) or in opposite gonads with a testis and an ovary on each side. The diagnosis of ovotesticular DSD is based solely on the presence of ovarian and testicular tissue in ...

Journal: :The journals of gerontology. Series A, Biological sciences and medical sciences 2007
Giuseppe Bellelli Giovanni B Frisoni Renato Turco Elena Lucchi Francesca Magnifico Marco Trabucchi

BACKGROUND Delirium superimposed on dementia (DSD) is highly prevalent and associated with high mortality among hospitalized elderly patients, yet little is known about the effect of DSD on midterm mortality. The purpose of this study was to assess 12-month survival in patients with DSD and matched groups with dementia alone, delirium alone, or neither delirium nor dementia. METHODS Among 127...

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