نتایج جستجو برای: congenital fibrosis
تعداد نتایج: 227980 فیلتر نتایج به سال:
A male 14 months old had deferential abnormalities during orchidopexy. The genetic study demonstrate cystic fibrosis (∆F508 / ∆F508). A literature review of the genetic alterations observed in patients with congenital unilateral and bilateral absence of the vas deferens was underwent as well as the role of cystic fibrosis trans membrane conductance regulator gene on fertility.
Cystic fibrosis (CF) remains the most common hereditary disease in the western population. Its concomitant presence with other congenital abnormalities is a rare phenomenon with very little documentation. In this case report we describe a case of cystic fibrosis in a female infant with cardiac, ocular, and musculoskeletal abnormalities. A brief literature review is also provided.
Ductal plate malformations are a heterogenous group of congenital fibrocystic liver diseases resulting from insult to the ductal plate at various stages of embryogenesis. As a result various biliary malformations, cysts, hamartomas and congenital hepatic fibrosis may be seen. We present a radiological pictorial of ductal plate malformations, accurate diagnosis of which is important for clinical...
Anomalies of the bronchus can be both congenital and acquired. Several different congenital aberrations of the bronchial anatomy are commonly encountered including tracheal bronchus, accessory cardiac bronchus, and bronchial agenesis/aplasia/hypoplasia. In addition, Williams-Campbell syndrome and cystic fibrosis are two other congenital conditions that result in bronchial pathology. Acquired pa...
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...
OBJECTIVE To report clinical presentation, perioperative outcome, and long-term results of surgical management of congenital intrahepatic bile duct (IHBD) dilatations (including Caroli disease) in a multi-institutional setting. SUMMARY BACKGROUND DATA Congenital IHBD dilatations are a rare congenital disorder predisposing to intrahepatic stones, cholangitis, and cholangiocarcinoma. The manage...
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