نتایج جستجو برای: congenital variations
تعداد نتایج: 305990 فیلتر نتایج به سال:
introduction: hearing impairment is the most frequent sensorial congenital defect in newborns and has increased to 2–4 cases per 1,000 live births. sensory-neural hearing loss (snhl) accounts for more than 90% of all hearing loss. this disorder is associated with other congenital disorders such as renal, skeletal, ocular, and cardiac disorders. given that congenital heart diseases are life-thre...
Purpose: Congenital glaucoma (CG) results from poorly understood developmental abnormalities of the aqueous drainage structures and is clinically characterized by high intraocular pressure (IOP), epiphora, corneal oedema, photophobia, blepharospasm and ocular enlargement. To date, more than 50 pathogenic mutations in the CYP1B1 gene, a member of the cytochrome P450 gene family, have been report...
Copy number variations associate with different developmental phenotypes and represent a major cause of congenital anomalies of the kidney and urinary tract (CAKUT). Because rare pathogenic copy number variations are often large and contain multiple genes, identification of the underlying genetic drivers has proven to be difficult. Here we studied the role of rare copy number variations in 80 p...
Background: Congenital heart disease is the most common congenital malformations in newborns. The aim of this study was to determine the prevalence and types of congenital heart disease in babies born in the city of Khorramabad. Materials and Methods: The present study was a descriptive cross-sectional. Sampling method was census. All babies born in the city of Khorramabad from 2007 to 2011, w...
PURPOSE Congenital amusia (tone deafness) is a disorder in which those affected typically complain of or are identified by their inability to sing in tune. A psychophysical and possibly surrogate marker of this condition is the inability to recognize deviations in pitch that are one semitone (100 cents) or less. The aim of our study was to identify candidate brain regions that might be associat...
PURPOSE To study the development of grating acuity in children treated for dense congenital unilateral or bilateral cataract and to examine how variations in treatment affect grating acuity during early childhood. METHODS The authors used optokinetic nystagmus (OKN), preferential looking (PL), or both to measure the grating acuity of children treated for congenital cataract in one eye (n = 63...
evaluation of pulse oximetry in the early detection of cyanotic congenital heart disease in newborns
background: delayed or missed diagnosis of critical and cyanotic congenital heart disease (chd) in asymptomatic newborns may result in significant morbidity and mortality. the aim of this study was to determine the accuracy of pulse oximetry screening performed on the first day of life for the early detection of critical and cyanotic chd in apparently normal newborns. methods: this cross-secti...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید