مقاله انگلیسی مطالعه نارسایی حاد کبدی در کودکان با استفاده از فناوری
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مقاله انگلیسی مطالعه نارسایی حاد کبدی در کودکان با استفاده از فناوری

عنوان فارسی مقاله: مطالعه نارسایی حاد کبدی در کودکان با استفاده از فناوری تعیین توالی نسل بعدی
عنوان انگلیسی مقاله: Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology
مجله/کنفرانس: مجله اطفال - The Journal of Pediatrics
رشته های تحصیلی مرتبط: پزشکی
گرایش های تحصیلی مرتبط: غدد و متابولیسم، گوارش و کبد
کلمات کلیدی فارسی: بیماری متابولیک ارثی ، هپاتوپاتی میتوکندریایی ، NBAS ، LARS1 و تیروزینمی
کلمات کلیدی انگلیسی: inherited metabolic disease, mitochondrial hepatopathy, NBAS, LARS1 and tyrosinemia
نوع نگارش مقاله: مقاله پژوهشی (Research Article)
نمایه: Scopus - Master Journals List - JCR - MedLine
شناسه دیجیتال (DOI): https://doi.org/10.1016/j.jpeds.2021.05.041
دانشگاه: King's College Hospital, United Kingdom
ناشر: الزویر - Elsevier
نوع ارائه مقاله: ژورنال
نوع مقاله: ISI
سال انتشار مقاله: 2021
ایمپکت فاکتور: 2.381 در سال 2020
شاخص H_index: 205 در سال 2021
شاخص SJR: 1.227 در سال 2020
شناسه ISSN: 0022-3476
شاخص Quartile (چارک): Q1 در سال 2020
فرمت مقاله انگلیسی: PDF
تعداد صفحات مقاله انگلیسی: 7
وضعیت ترجمه: ترجمه نشده است
قیمت مقاله انگلیسی: رایگان
آیا این مقاله بیس است: خیر
آیا این مقاله مدل مفهومی دارد: ندارد
آیا این مقاله پرسشنامه دارد: ندارد
آیا این مقاله متغیر دارد: ندارد
کد محصول: E15521
رفرنس: دارای رفرنس در داخل متن و انتهای مقاله
نوع رفرنس دهی: vancouver
فهرست انگلیسی مطالب

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نمونه متن انگلیسی مقاله

Objective
To use next generation sequencing (NGS) technology to identify undiagnosed, monogenic diseases in a cohort of children who suffered from acute liver failure (ALF) without an identifiable etiology.


Study design
We identified 148 under 10 years of age admitted to King's College Hospital, London, with ALF of indeterminate etiology between 2000 and 2018. A custom NGS panel of 64 candidate genes known to cause ALF and/or metabolic liver disease was constructed. Targeted sequencing was carried out on 41 children in whom DNA samples were available. Trio exome sequencing was performed on 4 children admitted during 2019. A comparison of the clinical characteristics of those identified with biallelic variants against those without biallelic variants was then made.


Results
Homozygous and compound heterozygous variants were identified in 8 out of 41 children (20%) and 4 out of 4 children (100%) in whom targeted and exome sequencing were carried out, respectively. The genes involved were NBAS (3 children); DLD (2 children); and CPT1A, FAH, LARS1, MPV17, NPC1, POLG, SUCLG1, and TWINK (1 each). The 12 children who were identified with biallelic variants were younger at presentation and more likely to die in comparison with those who did not: median age at presentation of 3 months and 30 months and survival rate 75% and 97%, respectively.


Conclusions
NGS was successful in identifying several specific etiologies of ALF. Variants in NBAS and mitochondrial DNA maintenance genes were the most common findings. In the future, a rapid sequencing NGS workflow could help in reaching a timely diagnosis and facilitate clinical decision making in children with ALF.


Historically, reports from Europe and North America of children with acute liver failure (ALF) identified infectious, metabolic, and drug-related etiologies but the cause remained unexplained in approximately one-half of all cases.1,  2,  3 Despite the progress made over the last 40 years the rate of indeterminate cases remains ~30%.4 Therefore, challenges remain when evaluating the indeterminate cohort who have a lower chance of spontaneous survival, and higher rates of liver transplantation and death when compared with other diagnostic categories.4,5


The rapid increase in the use of next generation sequencing (NGS) since its advent in 2004 has transformed the way children with rare diseases such as ALF are evaluated. This is particularly relevant when considering the more recently identified monogenic disorders such as those caused by variants in NBAS,6 SCYL1,7 and RINT1.8 Therefore, the purpose of this study was to use NGS technology to identify undiagnosed, monogenic diseases in children who received a diagnosis of indeterminate ALF and to gain insight into how this information may assist us in making therapeutic decisions for affected children in the future.

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