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Children
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Congenital Diaphragmatic Hernia—an Update
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Congenital Diaphragmatic Hernia—an Update

A special issue of Children (ISSN 2227-9067).

Deadline for manuscript submissions: closed (30 May 2022) | Viewed by 3298

Special Issue Editor

Prof. Dr. Satyan Lakshminrusimha

E-Mail Website
Guest Editor
Department of Pediatrics, University of California Davis, UC Davis Children’s Hospital, Sacramento, CA 95817, USA
Interests: oxygenation in lung injury; pulmonary hypertension; diaphragmatic hernia; neonatal resuscitation
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Congenital diaphragmatic hernia (CDH) continues to be an important cause of morbidity and mortality despite multiple advances in antenatal assessment, fetal therapy, resuscitation, gentle ventilation techniques, pulmonary vasodilator therapy, and extracorporeal membrane oxygenation (ECMO). The combination of pulmonary hypoplasia, pulmonary hypertension, and cardiac dysfunction complicate the pathophysiology of persistent pulmonary hypertension of the newborn (PPHN) and hypoxemic respiratory failure (HRF) associated with CDH. This Special Issue addresses various challenges in the diagnosis, assessment of severity, management, and follow-up of infants with CDH. Review articles, case reports, translational studies, protocols, as well as original basic and clinical studies are welcome.

Prof. Dr. Satyan Lakshminrusimha
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • diaphragmatic hernia
  • fetal surgery
  • pulmonary hypertension
  • oxygen
  • randomized trials
  • ECMO
  • nitric oxide
  • chronic lung disease

Published Papers (1 paper)

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Research

8 pages, 1820 KiB  
Article
TITF1 Screening in Human Congenital Diaphragmatic Hernia (CDH)
by Maria Eugenia Gulino, Giuseppe Martucciello, Elio Biffali, Patrizia Morbini, Roberta Patti, Marco Borra and Maria Grazia Scuderi
Children 2022, 9(8), 1108; https://0-doi-org.brum.beds.ac.uk/10.3390/children9081108 - 23 Jul 2022
Viewed by 1748
Abstract
TITF1 (Thyroid Transcription Factor-1) is a homeodomain-containing transcription factor. Previous studies showed that Titf1 null mice are characterized by failure of tracheo-oesophageal separation and impaired lung morphogenesis resulting in Pulmonary Hypoplasia (PH). In this study, we aim to evaluate the role of TITF1 [...] Read more.
TITF1 (Thyroid Transcription Factor-1) is a homeodomain-containing transcription factor. Previous studies showed that Titf1 null mice are characterized by failure of tracheo-oesophageal separation and impaired lung morphogenesis resulting in Pulmonary Hypoplasia (PH). In this study, we aim to evaluate the role of TITF1 in the pathogenesis of congenital diaphragmatic hernia (CDH) in humans. We investigated TITF1 expression in human trachea and lungs and performed direct mutation analysis in a CDH population. We studied 13 human fetuses at 14 to 24 weeks of gestation. Five μm sections were fixed in paraformaldehyde and incubated with anti-TITF1 primary antibody. Positive staining was visualized by biotinylated secondary antibody. We also performed TITF1 screening on genomic DNA extracted from peripheral blood of 16 patients affected by CDH and different degrees of PH, searching for mutations, insertions, and/or deletions, by sequencing the exonic regions of the gene. Histochemical studies showed positive brown staining of fetal follicular thyroid epithelium, normal fetal trachea, and normal fetal lung bronchial epithelium. Fetal esophageal wall was immunohistochemically negative. Molecular genetic analysis showed complete identity between the sequences obtained and the Wild Type (WT) form of the gene in all cases. No mutation, insertion and/or deletion was detected. Although TITF1 is expressed in the human fetal lung and has been considered to have a role in the pathogenesis of PH in CDH, the results of our study do not support the hypothesis that TITF1 mutations play a key role in the etiopathogenesis of CDH. Full article
(This article belongs to the Special Issue Congenital Diaphragmatic Hernia—an Update)
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