Results 41 to 50 of about 36,320 (252)

Non-traumatic left-sided diaphragmatic hernia causing volvulus in an adult

Radiology Case Reports, 2023
Diaphragmatic hernias can be classified into congenital and acquired types. Most cases of congenital diaphragmatic hernia present early in life with respiratory distress while acquired diaphragmatic hernia usually presents following a history of trauma ...
Ahmed T. Abdelhamid, MBChB
doaj   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

A Rare Association of Congenital Diaphragmatic Hernia with Lower Esophageal Atresia and Perforation

International Journal of Pediatrics, 2010
Congenital diaphragmatic hernia is known to be associated with esophageal atresia, which is a rare association. We report a rare occurrence of congenital diaphragmatic hernia and lower esophageal atresia.
Narendra Kumar Are, K. Nagarjuna, Lavanya Kannaiyan   +2 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Right-Sided Congenital Diaphragmatic Hernia Presenting with Liver, Ileum, Caecum, & Transverse Colon Herniated into Thoracic Cavity in 2 years old Child: A Rare Case Report

JBN (Jurnal Bedah Nasional)
One of the congenital abnormalities that can be found in children is congenital diaphragmatic hernia. The prevalence of left-sided congenital diaphragmatic hernias is higher than right-sided congenital diaphragmatic hernias.
ELSA SYAFIRA HIDAYAH, JOSHUA G.D. TANDIROGANG, DAVID HERMAWAN CHRISTIAN, IVAN JOALSEN, MICHAEL CAESARIO   +4 more
doaj   +1 more source

Evaluation of Treatment for Severe Congenital Diaphragmatic Hernia in Nagano Children’s Hospital [PDF]

, 2005
We have been treating severe congenital diaphragmatic hernia (CDH),diagnosed by prenatal ultrasonography, according to Tamura’s perinatal protocol. We retrospectively evaluated the protocol through the clinical course.
中村, 友彦, 百瀬, 芳隆, 好沢, 克, 石曾根, 新八, 山本, 知子   +4 more
core   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Incidentally revealing of CHD in a 52 year-old man: Case report and literature review

Radiology Case Reports
Congenital hernia of the diaphragmatic dome is defined as a congenital embryopathy where all or part of the diaphragmatic dome fails to form during embryonic development.
Idriss Chami Khazraji, MD, Rayhana Charif Saibari, MD, Samia Bennani, MD, Amal Rami, PhD, Mohamed Amine Ait Achour, MD, Rajaa Lafhal, MD, Mustapha Noussair, PhD   +6 more
doaj   +1 more source

Using airway resistance measurement to determine when to switch ventilator modes in congenital diaphragmatic hernia: a case report

BMC Pediatrics, 2020
Background Congenital diaphragmatic hernia is a deficiency of the fetal diaphragm resulting in herniation of the abdominal viscera into the thoracic cavity. The best method of respiratory management of congenital diaphragmatic hernia is unclear, but high
Sasagu Kimura, Katsuaki Toyoshima, Tomoaki Shimokaze, Rikuo Hoshino   +3 more
doaj   +1 more source

Use of the transabdominal approach to repair Morgagni hernia in a 28‐year‐old symptomatic female: A case report

Clinical Case Reports, 2022
Morgagni's hernia is a congenital diaphragmatic hernia, which represents only 3% of all diaphragmatic hernias. Herein, we report a case of a 28‐year‐old symptomatic female patient with Morgagni's hernia who underwent a transabdominal surgery for hernia ...
Marah Mansour, Ammar Ismail, Maria Alfathi, Tamim Alsuliman, Adnan Ismail   +4 more
doaj   +1 more source