چاپ صفحه |  صفحه نخست سامانه |  نویسندگان |  اطلاعات تفضیلی |  دانلود مقاله | دانشگاه علوم پزشکی تبریز |
| نویسنده ثبت کننده مقاله | لیلا واحدی |
| مرحله جاری مقاله | تایید نهایی |
| دانشکده/مرکز مربوطه | بیماری های گوارش و کبد |
| کد مقاله | 77550 |
| عنوان فارسی مقاله | Analysis of CFTR Gene Variants and clinical presentations in Children with Idiopathic Bronchiectasis and Unknown Etiology |
| عنوان لاتین مقاله | Analysis of CFTR Gene Variants and clinical presentations in Children with Idiopathic Bronchiectasis and Unknown Etiology |
| نوع ارائه | پوستر |
| عنوان کنگره / همایش | کنفرانس بین المللی ژنتیک و ژنومیکس انسانی |
| نوع کنگره / همایش | بین المللی |
| کشور محل برگزاری کنگره/ همایش | Iran (Islamic Republic) |
| شهر محل برگزاری کنگره/ همایش | Yazd |
| سال انتشار/ ارائه شمسی | 1400 |
| سال انتشار/ارائه میلادی | 2021 |
| تاریخ شمسی شروع و خاتمه کنگره/همایش | 1400/09/10 الی 1400/09/11 |
| آدرس لینک مقاله/ همایش در شبکه اینترنت | www.yazdgenetics.ir |
| آدرس علمی (Affiliation) نویسنده متقاضی | Liver and Gastrointestinal Diseases Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. |
| نویسنده | نفر چندم مقاله |
|---|---|
| امیر حسین جعفری روحی | اول |
| امین خامنه | چهارم |
| لیلا واحدی | پنجم |
| ساینا پزشکی | دوم |
| اصغر جعفری روحی | سوم |
| عنوان | متن |
|---|---|
| خلاصه مقاله | Background: Idiopathic bronchiectasis is an irreversible abnormal dilation of proximal subsegmental bronchi. The aim was to survey CFTR gene variants in pediatric idiopathic Bronchiectasis. Methods: All children with idiopathic bronchiectasis confirmed and admitted to Tabriz Children’s Hospital, Iran were surveyed from 2019 to 2020. Demographic and clinical information was gathered by medical records and clinical examination and CFTR variants were investigated by liquid chromatography, direct sequencing, and multiple probe ligations tests. Then children were allocated into two groups based on CFTR variants when CF-causing mutations of varying clinical consequence variants were related to group 1, and polymorphisms related to group 2 to compare in terms of demographic, clinical, and para-clinical findings. Descriptive statistics, Chi-square Tests, and independent samples t-test were used to analyze the data using SPSS software version 22.0. Results: Out of 21 patients, 10 (47.6%) children were males with a mean age of 9.75 years. Five clinically significant CFTR-related gene variants were identified (group 1). Other patients either had only a single polymorphism or no variants related to CFTR (group 2). Age, FEV1, and sweat tests were lower in group 1 than in group 2. Conclusion: In this study, the CFTR variants in heterozygote types in pediatric Diffuse Bronchiectasis with a normal or borderline sweat test. Therefore, it is necessary to determine whether DB is a part of CFTR Related Diseases failing to meet the diagnostic criteria of Cystic fibrosis or a disease independent of Cystic fibrosis. |
| کلمات کلیدی | Idiopathic bronchiectasis, Children, CFTR variants, Cystic fibrosis. |
| نام فایل | تاریخ درج فایل | اندازه فایل | دانلود |
|---|---|---|---|
| Poster Analysis.jpg | 1400/09/15 | 3339070 | دانلود |
| IB Poster.pdf.pdf | 1400/09/15 | 244064 | دانلود |
