دورية أكاديمية
Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins.
| العنوان: | Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins. |
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| المؤلفون: | Edel GG; Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands., Hol JA; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Slot E; Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., von der Thüsen JH; Department of Pathology and Clinical Bioinformatics, Erasmus MC, Rotterdam, The Netherlands., van Bever Y; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., de Jonge RCJ; Pediatric Intensive Care Unit, Department of Pediatrics and Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands., van Tienhoven M; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Brüggenwirth HT; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., de Klein A; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Rottier RJ; Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands. Electronic address: r.rottier@erasmusmc.nl. |
| المصدر: | Laboratory investigation; a journal of technical methods and pathology [Lab Invest] 2023 Nov; Vol. 103 (11), pp. 100233. Date of Electronic Publication: 2023 Aug 09. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Inc Country of Publication: United States NLM ID: 0376617 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0307 (Electronic) Linking ISSN: 00236837 NLM ISO Abbreviation: Lab Invest Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2023- : [New York] : Elsevier Inc. Original Publication: Baltimore : Williams & Wilkins |
| مواضيع طبية MeSH: | Persistent Fetal Circulation Syndrome*/diagnosis , Persistent Fetal Circulation Syndrome*/genetics , Persistent Fetal Circulation Syndrome*/pathology, Pulmonary Alveoli/*abnormalities, Infant, Newborn ; Humans ; Clinical Relevance ; Pulmonary Alveoli/pathology ; Forkhead Transcription Factors/genetics |
| مستخلص: | Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal congenital lung disorder that presents shortly after birth with respiratory failure and therapy-resistant pulmonary hypertension. It is associated with heterozygous point mutations and genomic deletions that involve the FOXF1 gene or its upstream regulatory region. Patients are unresponsive to the intensive treatment regimens and suffer unnecessarily because ACDMPV is not always timely recognized and histologic diagnosis is invasive and time consuming. Here, we demonstrate the usefulness of a noninvasive, fast genetic test for FOXF1 variants that we previously developed to rapidly diagnose ACDMPV and reduce the time of hospitalization. (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.) |
| فهرسة مساهمة: | Keywords: ACDMPV; FOXF1; alveolar capillary dysplasia with misalignment of pulmonary veins; fast genetic testing; targeted sequencing |
| المشرفين على المادة: | 0 (Forkhead Transcription Factors) 0 (FOXF1 protein, human) |
| SCR Disease Name: | Alveolar capillary dysplasia |
| تواريخ الأحداث: | Date Created: 20230811 Date Completed: 20240214 Latest Revision: 20240229 |
| رمز التحديث: | 20240229 |
| DOI: | 10.1016/j.labinv.2023.100233 |
| PMID: | 37567389 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1530-0307 |
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| DOI: | 10.1016/j.labinv.2023.100233 |