نتایج جستجو برای: 46xy dsd
تعداد نتایج: 1104 فیلتر نتایج به سال:
Chromobox homolog 2 (CBX2) is a chromatin modifier that plays an important role in sexual development and its disorders (disorders of sex development [DSD]), yet the exact rank and function of human CBX2 in this pathway remains unclear. Here, we performed large-scale mapping and analysis of in vivo target loci of the protein CBX2 in Sertoli-like NT-2D1 cells, using the DNA adenine methyltransfe...
Detrusor sphincter dyssynergia (DSD) is the urodynamic description of bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation. DSD is associated with neurologic conditions such as spinal cord injury, multiple sclerosis, and spina bifida and some of these neurogenic bladder patients with DSD may be at risk for autonomic dysreflexia, ...
In the treatment of patients with disorders of sex development (DSD), multidisciplinary teams (MDTs) represent a new standard of care. While DSDs are too complex for care to be delivered effectively without specialized team management, these conditions are often considered to be too rare for their medical management to be a hospital priority. Many specialists involved in DSD care want to create...
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...
Variables that impact gender development in humans are difficult to evaluate. This difficulty exists because it is not usually possible to tease apart biological influences on gender from social variables. People with disorders of sex development, or DSD, provide important opportunities to study gender within individuals for whom biologic components of sex can be discordant with social componen...
BACKGROUND Dementia is a growing public health problem and a well-described risk factor for delirium. Yet little is known about delirium superimposed on dementia in community-dwelling populations. The purpose of this study was to examine the 3-year occurrence, healthcare utilization, and costs associated with delirium superimposed on dementia in community-dwelling persons. METHODS We used a 3...
Activating c-KIT mutations (exons 11 and 17) are found in 10-40% of testicular seminomas, the majority being missense point mutations (codon 816). Malignant ovarian dysgerminomas represent ~3% of all ovarian cancers in Western countries, resembling testicular seminomas, regarding chromosomal aberrations and c-KIT mutations. DSD patients with specific Y-sequences have an increased risk for Type ...
Immersive virtual environments (VEs) are broadly applicable to situations where a user can directly perceive and interact with three-dimensional (3D) virtual objects. Currently, successful interactive applications of VEs are limited. Some interactive applications in the AEC (architecture / engineering / construction) domain have not yet benefited from applying VEs. A review of prior work has su...
The focus of this paper is on the numerical solution of the stochastic collection equation–stochastic breakup equation (SCE–SBE) describing the evolution of raindrop spectra in warm rain. The drop size distribution (DSD) is discretized using the fixed-pivot scheme proposed by Kumar and Ramkrishna, and new discrete equations for solving collision breakup are presented. The model is evaluated usi...
CONTEXT The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases. OBJECTIVE To report the range of associated conditions identified in the international DSD (I-DSD) Registry. DESIGN, SETTING, AND PATIENTS Anonymized data were extracted from the I-DSD...
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