نتایج جستجو برای: insensitivity syndrome
تعداد نتایج: 626376 فیلتر نتایج به سال:
The aim of this study is to investigate the differences in car occupant injury severity recorded in AIS 2005 compared to AIS 1990 and to outline the likely effects on future data analysis findings. Occupant injury data in the UK Cooperative Crash Injury Study Database (CCIS) were coded for the period February 2006 to November 2007 using both AIS 1990 and AIS 2005. Data for 1,994 occupants with ...
Introduction In patients with AIS, standing radiographs are the standard of care for curve surveillance, but have negative long-term effects from repeated x-ray exposure. MRI provides high quality images in the coronal plane that can be used to measure Cobb angles. Because MRI is done in the supine position, there is no gravitational effect and curve magnitudes appear smaller. Gravity can be re...
Background: Activity dependent neuroprotective protein (ADNP) syndrome is one of the most common single-gene causes autism spectrum disorder (ASD) and intellectual disability, however, phenotypes remain poorly described. Here we examine sensory reactivity phenotype in children adolescents with ADNP syndrome. Methods: Twenty-two individuals received comprehensive clinical evaluations including s...
Even though ship accidents at sea has many economic and environmental implications on Greece, ships formulate routes according to their best judgment. In this study we take a dataset spanning in 2.5 years from the AIS network, which is transmitting in public a ship's identity and location, and we load it in a trajectory database supported by the Hermes MOD system to begin an analysis by extract...
OBJECTIVE To study the value of measuring serum luteinising hormone (LH), follicle stimulating hormone (FSH), testosterone, and dihydrotestosterone (DHT) in androgen insensitivity syndrome (AIS). DESIGN Retrospective study of patients on a nationwide register of AIS. PATIENTS Sixty one cases of AIS with androgen receptor (AR) dysfunction (abnormalities of the AR gene and/or abnormal AR bind...
Complete androgen insensitivity syndrome (CAIS) is a genetic disease caused by mutations in the androgen receptor gene. CAIS patients are individuals with a 46, XY karyotype. The phenotype consists in female external genitalia, short vagina, absent mullerian structures, and abdominal, inguinal or intralabial testes. Our aim is to describe a group of CAIS patients in our centre and identify the ...
Androgen insensitivity syndrome (AIS) is the most common specific cause of 46,XY disorder in sex development. The androgen signaling pathway is complex but so far, the only gene linked with AIS is the androgen receptor (AR). Mutations in the AR are found in most subjects with complete AIS but in partial AIS, the rate has varied 28–73%, depending on the case selection. More than over 800 entries...
Prophylactic gonadectomy has been recommended in complete androgen insensitivity syndrome (CAIS) because of an increased risk for the development of malignant germ cell tumors in the intra-abdominal gonads. No reliable screening parameters are available to detect early (pre-)malignant changes. Because the tumor risk before puberty is very low, the timing of gonadectomy has been postponed to all...
Predicting continued problematic levels of drinking after the early 20's could help with early identification of persons at risk. This study investigated whether hangover insensitivity could predict postcollege drinking and problems beyond the variance due to drinking patterns. In a preliminary study, 134 college seniors from a laboratory study of hangover (Time 1) were contacted and assessed 1...
10.2217/14750708.4.2.133 © 2 Recombinant human insulin-like growth factor (rhIGF)-I has been shown to increase growth velocity in children with IGF-I deficiency, either as a result of growth hormoneinsensitivity syndrome or IGF-I gene deletion (one case study). There have been adverse events, particularly hypoglycemia, reported with administration of unbound rhIGF-I. In addition, the serum half...
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