نتایج جستجو برای: 46xy dsd
تعداد نتایج: 1104 فیلتر نتایج به سال:
Result Chief complain of all these patients to see doctors were abnormal external genitalia. I53 DSD patients include social sex 128 male and 25 female from 42 days to16y10m (4.59±4.25y). There were 121 (90.3%) 46XYDSD. 39 cases (32.2%) were diagnosed as hypospadias combined with micropenis, 19(15.7%) were micropenis with testis abnormality and 18 cases(14.9%) were simple micropenis. 13(10.7%) ...
The relative energies of the YMPJ conformer database of the 20 proteinogenic amino acids, with N- and C-termination, have been re-evaluated using explicitly correlated coupled cluster methods. Lower-cost ab initio methods such as MP2-F12 and CCSD-F12b actually are outperformed by double-hybrid DFT functionals; in particular, the DSD-PBEP86-NL double hybrid performs well enough to serve as a sec...
0950-5849/$ see front matter 2010 Elsevier B.V. A doi:10.1016/j.infsof.2010.03.009 * Corresponding author. E-mail addresses: [email protected] (R. Prikladnicki) Context: Distributed Software Development (DSD) has recently become an active research area. Although considerable research effort has been made in this area, as yet, no agreement has been reached as to an appropriate process model for D...
While current experimental demonstrations have been limited to small computational tasks, DNA strand displacement systems (DSD systems) [25] hold promise for sophisticated information processing within chemical or biological environments. A DSD system encodes designed reactions that are facilitated by three-way or four-way toeholdmediated strand displacement. However, such systems are capable o...
A rare form of the 46,XY disorders of sex development (DSD), 5a-reductase deficiency was first described in patients with pseudovaginal perineoscrotal hypospadias, microphallus, and cryptorchid testes in 1974 by Imperato. This undervirilization in the male is due to an alteration in the 5a-reductase type 2 gene (SRD5A2), which encodes for 5areductase activity. Our registry of 750 patients with ...
در این پژوهش کلیه موارد مراجعه کننده با بلوغ زودرس به درمانگاه تخصصی غدد بیمارستان خاتم الانبیا (ص ) تحت بررسی کلینیکی و پارامغناطیسی قرار گرفتند. از 18 بیمار مراجعه کننده اکثریت آنها دچار حداکثر شدت اختلالات بودند و اکثرا با فاصله زمانی زیادی از هنگام شروع علایم مراجعه نمودند.در بیشتر بیماران سطح تستوسترون سرم بالا و در 100 درصد بیماران سن استخوانی نسبت به سن تقویمی افزایش یافته بوده است . متو...
The number of samples needed to identify significant effects is a key question in biomedical studies, with consequences on experimental designs, costs and potential discoveries. In metabolic phenotyping studies, sample size determination remains a complex step. This is due particularly to the multiple hypothesis-testing framework and the top-down hypothesis-free approach, with no a priori known...
OBJECTIVE Steroidogenic factor 1 (SF1, NR5A1) is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-gonadal axis. Recently, SF1 mutations were found to be a frequent cause of 46,XY disorders of sex development (DSD) in humans. We investigate the frequency of NR5A1 mutations in an Egyptian cohort of XY DSD. DESIGN Clinical assessment, endocrine evaluation and genet...
OBJECTIVE In 2006, the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE) published a consensus statement on management of intersex disorders. The aim of our study was to determine the etiological distribution of disorders of sex development (DSD) according to the new DSD classification system and to evaluate the clinical features of ...
Four topics from the DSD Working Party, a meeting to provide information regarding future studies, reported here are the complexities of hypospadias, surgical treatment of virilized genitalia of 46,XX DSD individuals, advances in phalloplasty and psychological, social and sexual outcomes.
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