نتایج جستجو برای: congenital disorders
تعداد نتایج: 776325 فیلتر نتایج به سال:
The national neonatal screening programme in the United Arab Emirates currently includes 16 disorders: congenital hypothyroidism, sickle-cell diseases, congenital adrenal hyperplasia, biotinidase deficiency and 12 amino acid, organic acid and fatty acid disorders. This paper reports data since the programme started in January 1995 up to December 2011 on the incidence of screened disorders and t...
neuromuscular disorders encompass a broad spectrum of disorders from the anterior horn cell to the muscle tissue itself. the given condition can be either genetic or acquired. these group of disorders are diagnostically challenging as many of them also pose other systemic findings. one example would the commonly seen mental retardation in duchenne muscular dystrophy. from the practical point of...
background: thyroid function disorders, particularly congenital hypothyroidism (cht), are important endocrine dysfunctions associated with permanent morbidities. cht is more prevalent among preterm low-birth-weight neonates compared to term infants with normal weight. methods: this prospective cohort study was conducted on 126 very-low-birth-weight (vlbw) neonates referred to the neonatal inten...
Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to vis...
هدف: این مطالعه به منظور بررسی میزان فراوانی بیماری lebers congenital amaurosis در تست های الکتروفیزیولوژیک در کودکان در پلی کلینیک قدس سال 90-89 انجام شده است. روش مطالعه: در این مطالعه مقطعی، 50 فرد بدون وجود سابقه اختلال بینایی و تشنج وارد مطالعه شدند شامل 25 نفر مبتلا به lebers congenital amaurosis و 25 نفر که سالم و بعنوان گروه شاهد بودند. دو گروه تحت erg و vep و eog قرار گرفتند و نتایج ب...
Cerebellar hypoplasia and slowly progressive ophthalmological symptoms are common features in patients with congenital disorders of glycosylation type I. In a group of patients with congenital disorders of glycosylation type I with unknown aetiology, we have previously described a distinct phenotype with severe, early visual impairment and variable eye malformations, including optic nerve hypop...
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...
THE ESOPHAGUS Anatomy Congenital Disorders Tracheoesophageal Fistula Rings and Webs Esophageal Diverticula Motor Disorders Achalasia Scleroderma Hiatal Hernia Esophagitis Reflux Esophagitis Barrett Esophagus Eosinophilic Esophagitis Infective Esophagitis Chemical Esophagitis Esophagitis of Systemic Illness Iatrogenic Cancer of Esophagitis Esophageal Varices Lacerations and Perforations Neoplasm...
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