Results 81 to 90 of about 23,464 (230)

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

Combined laparoscopic and thoracoscopic repair of a large traumatic diaphragmatic hernia: a case report [PDF]

, 2015
Traumatic diaphragmatic hernia is a well known complication of blunt trauma to the abdomen and thorax. In the acute setting, laparotomy is mandatory. In this current era, this condition can be managed with minimally invasive surgery.
Amir, Azuawarie, Ong, Kheng Wah, Gee, Tikfu, Nor Hanipah, Zubaidah   +3 more
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Rare variants in NR2F2 cause congenital heart defects in humans [PDF]

, 2014
Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly ...
O'Kelly, Ita M., D’Alessandro, Lisa C.A., Mercer, Catherine L., Arndt, AK, Manickaraj, AK, Devriendt, K, Cosgrove, C., Bu'lock, Frances A, Mulder, B., Mital, Seema, Toka, Okan, Setchfield, Kerry, Lucassen, Anneke M., Mercer, C.L., Devriendt, Koenraad, Bentham, J., Arndt, Anne-Karin, Gewillig, M., O'Kelly, I.M., Siebert, Reiner, Breckpot, Jeroen, Hoff, K, Brook, J David, Fitzpatrick, David F, Mercer, CL, Hurles, Matthew E, Mercer, Catherine L, Schubert, Stephan, Salmon, Anthony P, Thienpont, Bernard, Manickaraj, A.K., Thornborough, C., Thienpont, B., FitzPatrick, David R., Hitz, Marc-Phillip, Lindsay, S, UK10K Consortium, Arndt, A.K., Gerety, Sebastian S, Bu'lock, FA, Setchfield, K, Mital, S., Siebert, R, Mulder, B, FitzPatrick, David F., O'Kelly, IM, Bu’Lock, Frances A., Watkins, H, Bentham, Jamie, Bhattacharya, Shoumo, Breckpot, J, Lucassen, AM, Swaminathan, G. Jawahar, Kramer, Hans-Heiner, Toka, O., Gewillig, M, Kramer, HH, Schubert, S., Salmon, AP, Al Turki, Saeed, Schubert, S, D'Alessandro, Lisa C. A., Brook, JD, Wilson, David I, Bhattacharya, S., Wilson, DI, Gerety, Sebastian S., Al Turki, S, Lindsay, Sarah, Devriendt, Koen, Breckpot, J., Hitz, MP, Watkins, H., Klaassen, Sabine, Salmon, Anthony P., Granados-Riveron, Javier, Harnack, C, Swaminathan, G Jawahar, Wilson, David I., Watkins, Hugh, Toka, O, Kramer, H.H., Abdul-Khaliq, H., O'Kelly, Ita M, Harnack, C., Wilson, D.I., Bu'lock, Frances A., Lucassen, A.M., Cosgrove, Catherine, Lucassen, Anneke M, Klaassen, S, Granados-Riveron, J, Low, J, Thornborough, Chris, D'Alessandro, LC, D'Alessandro, L.C.A., Low, J., Abdul-Khaliq, Hashim, Swaminathan, GJ, Gerety, S.S., Gewillig, Marc, Harnack, Christine, ?, ?, Al Turki, S., Lindsay, S., Hoff, K., Hurles, ME, D'Alessandro, Lisa C.A., Abdul-Khaliq, H, Mital, S, Klaassen, S., O’Kelly, Ita M., Granados-Riveron, J., Hurles, Matthew E., Salmon, A.P., Siebert, R., Fitzpatrick, D.F., Brook, J. David, Hitz, M.P., Fitzpatrick, DF, Thienpont, B, Mulder, Barbara, Swaminathan, G.J., Bu'Lock, F.A., Setchfield, K., Hurles, M.E., Gerety, SS, Cosgrove, C, Manickaraj, Ashok K, Devriendt, K., D'Alessandro, Lisa C A, Bhattacharya, S, Bentham, J, Manickaraj, Ashok K., Brook, J.D., Thornborough, C, Louw, Jacoba, Hoff, Kirstin, Low, Jacoba   +138 more
core   +1 more source

Comparison between a laparoscopic articulating needle driver with standard laparoscopic instrumentation for total laparoscopic gastropexy in dogs

Veterinary Surgery, EarlyView.
Abstract Objective To compare the utility of a mechanical laparoscopic articulating needle driver (ALI) to standard laparoscopic instrumentation (SLI) during the creation of a total laparoscopic gastropexy (TLG) in dogs. Study design Prospective clinical trial. Animals A total of 17 client owned dogs.
Erin A. Gibson, William T. N. Culp, Ingrid M. Balsa, Michele Steffey, Philipp Mayhew   +4 more
wiley   +1 more source

Pediatric diaphragmatic hernia induced by a rib osteochondroma

Radiology Case Reports
Diaphragmatic hernia in children is uncommon, especially when not congenital. We present a case of an 11-year old boy with a diaphragmatic hernia caused by a rib osteochondroma.
Diederik P.J. Smeeing, MD, PhD, Willemijn M. Klein, MD, PhD, Edwin F. Dierselhuis, MD, PhD, Horst E. Daniels, MD, PhD   +3 more
doaj   +1 more source

Laparoscopic treatment of bowel obstruction as a late presentation of traumatic diaphagmatic hernia: case report

Medicina, 2016
Design of the study: Case report. Objectives: To present, through a case report, a post-traumatic diaphragmatic hernia with late diagnosis and reinforce the importance of systematic research of diaphragmatic injury in thoracoabdominal trauma.
Ianê C. Diniz, Milena M. Rodrigues, Thainá S. M. Silva, Carolina B. Lucena, Fábio Colagrossi Paes Barbosa   +4 more
doaj   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1821-1831, August 2026.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Congenital diaphragmatic hernia in a 2-year-old resembling a tension pneumothorax

Journal of Pediatric Surgery Case Reports, 2019
This case presents a child with a late presentation of a congenital diaphragmatic hernia in extremis with features suggestive of tension pneumothorax.
Yoonyoung Yves Choi, Aoife Bridget Rice, Roy Mark Kimble   +2 more
doaj   +1 more source

Annual Report of the 2022 National Clinical Database: Decade‐Long Trends and Current Status of Gastroenterological Surgery in Japan

Annals of Gastroenterological Surgery, Volume 10, Issue 4, Page 928-959, July 2026.
ABSTRACT Aim The National Clinical Database (NCD) of Japan is the largest nationwide registry, covering over 95% of surgeries in the country. This 2022 annual report summarizes the short‐term outcomes of gastroenterological surgeries and discusses trends and insights over the past decade.
Koshi Kumagai, Arata Takahashi, Hideki Ueno, Naoki Hiki, Yoshiki Kajiwara, Tomoki Ebata, Takao Otsuka, Taro Oshikiri, Yoshihiro Kakeji, Takanori Goi, Akio Saiura, Hiroshi Saeki, Chie Tanaka, Masanori Tokunaga, Tsutomu Fujii, Satoru Matsuda, Tsunekazu Mizushima, Hiroyuki Yamamoto, Yuko Kitagawa, Ken Shirabe   +19 more
wiley   +1 more source

Thoracoscopic repair of neonatal congenital diaphragmatic hernia

, 2016
Purpose: To describe the surgical technique and criteria for neonatal congenital diaphragmatic hernia (CDH) repair. Methods: CDH repairs were carried out by a thoracoscopic approach between February 2013 and April 2014.
Nagayasu, Takeshi, Obatake, Masayuki, Yamane, Yusuke, Taura, Yasuaki, Yoshida, Takuya   +4 more
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