Results 91 to 100 of about 2,899 (228)

First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes

Molecular Genetics &Genomic Medicine, Volume 13, Issue 4, April 2025.
We report here the first prenatal dual molecular diagnosis, involving 22q11.2 deletion and Van den Ende‐Gupta symdromes. A de novo 22q11.2 deletion was initially detected both by chromosal microarray and exome sequencing. Given atypical additional clinical signs at fetal autopsy, reanalysis of exome sequencing revealed a pathogenic SCARF2 variant in ...
Caroline Racine, Aurore Garde, Olivia Martz, Hana Safraou, Vinciane Eluard, Thierry Rousseau, Nathalie Marle, Fara T. Harizay, Laurent Martin, Julien Maraval, Ange‐Line Bruel, Christophe Philippe, Christel Thauvin‐Robinet, Laurence Faivre   +13 more
wiley   +1 more source

Early improvement of respiratory function after surgical plication for unilateral diaphragmatic paralysis [PDF]

, 2017
We reported an unusual case of symptomatic diaphragmatic paralysis in an elderly patient with progressive respiratory-dependent limitation of her daily activities.
de Perrot, M., Licker, M., Schweizer, A., Spiliopoulos, A.   +3 more
core  

Routine 36‐week scan: diagnosis of fetal abnormalities

Ultrasound in Obstetrics &Gynecology, Volume 65, Issue 4, Page 427-435, April 2025.
ABSTRACT Objectives To investigate further the incidence and types of fetal abnormality identified at a routine 36‐week ultrasound examination, which had not been diagnosed in previous scans at 20 weeks and 12 weeks' gestation, and to report the fetal abnormalities that are diagnosed only postnatally.
A. Syngelaki, R. Mitsigiorgi, J. Goadsby, K. Hamed, R. Akolekar, K. H. Nicolaides   +5 more
wiley   +1 more source

Mesenchymal retinoic acid signaling is required for normal diaphragm development in mice

The FASEB Journal, Volume 39, Issue 3, 15 February 2025.
Single‐cell sequencing analysis of mouse pleuroperitoneal folds shows that genes associated with congenital diaphragmatic hernia and retinoic acid signaling are primarily expressed in the non‐muscular mesenchyme of the developing diaphragm. Blocking mesenchymal retinoic acid signaling in the developing diaphragm of Prrx1Cre:RARdn mice causes congenital
Juan F. Garcia Rivas, Nicole H. M. Applin, Jaida F. P. Albrechtsen, Adibehalsadat Ghazanfari, Michael Doschak, Robin D. Clugston   +5 more
wiley   +1 more source

Eventration of Diaphragm with Chronic Constipation: An Unusual Presentation: A Case Report [PDF]

Iranian Journal of Colorectal Research, 2017
Diaphragmatic eventration (DE) or eventration of the diaphragm is characterized by a permanent high position of 1 or rarely boththe leaflets of the diaphragm, providing a potential space for the displacement of abdominal viscera on the affected side(s ...
Ashwin Porwal, Paresh Gandhi
doaj   +1 more source

Cardiac Tamponade After Video-Assisted Thoracoscopy Surgical Diaphragmatic Plication

Annals of Thoracic Surgery Short Reports
Video-assisted thoracoscopy surgical diaphragmatic plication is the standard of care for diaphragmatic eventration. However, it is associated with complications like injuries to the bowel, liver, spleen, and lung parenchyma.
Nagarjuna Panidapu, MD, DM, Devika Poduval, MD, DM, Bhakti Patil, MD, Rohik Micka Radhakrishnan, MS, MCH, Barsha Sen, MD, Don Palamattam, MD, DM, Thushara Madathil, MD, DM, Tony Jose, MD, DM, Praveen Kerala Varma, MS, MCH, Praveen Neema, MD   +9 more
doaj   +1 more source

An Unusual Cause of Lobulated Lung Mass [PDF]

, 2016
Eventration of the diaphragm is caused by weakened musculature of the diaphragm. This can occur in one or both hemidiaphragms. Symptoms may be minimal and it is usually detected incidentally on chest radiograph which would show an elevation of the ...
AH, Mohamed Faisal, BYL, Andrea, HL, Tan   +2 more
core   +2 more sources

Functional Reconstruction of a Huge Lateral Thoraco‐Abdominal Defect With Combined Innervated Pedicled Latissimus Dorsi Flap and Vastus Lateralis Free Functional Muscle Transfer: A Case Report

Microsurgery, Volume 45, Issue 2, February 2025.
ABSTRACT Full thickness thoraco‐abdominal defects are traditionally challenging to reconstruct, exposing the patient to a significant risk of wound complications and functional impairment. The authors present an extremely challenging and unique case where a huge lateral thoraco‐abdominal defect was reconstructed with a combination of innervated flaps ...
Beniamino Brunetti, Marco Morelli Coppola, Fiorella Oliveri, Valeria Petrucci, Omar Al‐Hilli, Sergio Valeri, Rossana Alloni, Irene Giovanna Aprile, Stefania Tenna, Paolo Persichetti   +9 more
wiley   +1 more source

Laparoscopic diaphragmatic plication for paralysis posterior to trauma. Case report [PDF]

, 2016
Diaphragmatic paralysis is a pathology characterized by the elevation of a plastic and inactive atrophic diaphragm, followed by an injury to the spinal column or to the phrenic nerve.
Moreno Cantú, Carlos Alberto, Muñoz Maldonado, Gerardo, Reyna Sepúlveda, Francisco J., Rodríguez Briseño, José Ángel, Vásquez Fernández, Francisco   +4 more
core  

Patterns of Co‐Occurring Birth Defects in Chinese Infants With Congenital Diaphragmatic Hernia: A National Hospital‐Based Surveillance Study

Birth Defects Research, Volume 117, Issue 1, January 2025.
ABSTRACT Background The landscape of co‐occurring birth defects among infants with congenital diaphragmatic hernia (CDH) remains underexplored. Aims This study aims to elucidate the complex patterns of co‐occurring defects in Chinese population. Materials and Methods We analyzed cases from the Chinese Birth Defects Monitoring Network (2007‐2019) with ...
Zhi‐Yu Chen, Wen‐Li Xu, Yu‐Yang Gao, Wen‐Yan Li, Zhen Liu, Jia‐Yuan Zhou, Li Dai   +6 more
wiley   +1 more source