Results 41 to 50 of about 1,355 (152)

A Case of Nonimmune Hydrops Fetalis With a Duct‐Dependent Systemic Circulation and a Novel Mutation of Kabuki Syndrome

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Introduction Nonimmune hydrops fetalis (NIHF) has numerous etiologies, the most common of which are cardiac anomalies and fetal infection. However, genetic disorders are also being increasingly recognized as a cause of NIHF. Here, we report a case of a neonate presenting with polyhydramnios, NIHF, structural heart disease, and diaphragmatic defect who ...
Rameshwar Prasad, Sudipta Sahoo, Richie Dalai, Keshav Kumar Pathak, Bhabesh Kant Chowdhary, Richa Sharma   +5 more
wiley   +1 more source

Clinical Evaluation and Surgical Management of Diaphragmatic Eventration Mimicking Traumatic Hernia: A Case Report [PDF]

Bulletin of Emergency and Trauma
Objective: Diaphragmatic eventration (DE) is a rare condition that can mimic a traumatic diaphragmatic hernia, particularly in trauma cases. We present a case of DE initially misdiagnosed as a diaphragmatic hernia following a road traffic accident ...
Anurag Kumar, Majid Anwer, Anil Kumar, Deepak Kumar, Ankit Ankit, Abdul Khan   +5 more
doaj   +1 more source

Bochdalek Hernia as a Discrepant Intraoperative Diagnosis in a Paraesophageal Hernia Surgery: A Surgical Case Report

Case Reports in Surgery, Volume 2026, Issue 1, 2026.
Bochdalek hernia (BH) is a rare paediatric condition, but late diagnoses occur in adults. It occurs following incomplete posterolateral development of the diaphragm. Adult BH is asymptomatic in most cases, but it has the potential of being life‐threatening.
Walter Abila Akello, I. M. Karani, W. O. Sibuor, Amos Washika, Andee Dzulkarnaen Zakaria   +4 more
wiley   +1 more source

Thoracoscopic Repair of a Rare Case of Congenital Diaphragmatic Hernia with Eventration (Mixed Lesion)

Journal of Indian Association of Pediatric Surgeons
Congenital diaphragmatic malformations include congenital diaphragmatic hernia (CDH) and eventration of the diaphragm. The clinical presentation is variable, and the prognosis depends on multiple factors.
Tarun Gupta, Ankur Mandelia, Rahul Goel, Pooja Prajapati   +3 more
doaj   +1 more source

Nationwide Danish Register Based Study Showed a Stable Prevalence of Congenital Diaphragmatic Hernias From 1994 to 2021 but a Decrease in Syndromic Cases

Acta Paediatrica, Volume 114, Issue 12, Page 3252-3257, December 2025.
ABSTRACT Aim Congenital diaphragmatic hernia (CDH) is a severe malformation with high morbidity and mortality. This Danish study evaluated the birth prevalence, co‐occurring malformations, and temporal trends of CDH over nearly three decades. Methods Nationwide data from the Danish Biobank Register were used to identify liveborn infants diagnosed with ...
Ulrik Lausten‐Thomsen, Paula L. Hedley, Kristin M. Conway, Katrine M. Løfberg, Lars S. Johansen, Paul A. Romitti, Michael Christiansen   +6 more
wiley   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Anesthetic management and perioperative outcomes in infants and young children undergoing diaphragmatic hernia or eventration repair: focus on two lung ventilation and propofol related hemodynamics. [PDF]

Pediatric Anesthesia and Critical Care Journal (PACCJ)
ntroduction To describe anesthetic management and early periopera- tive outcomes in infants and young children undergoing repair of congenital diaphragmatic hernia or diaphrag- matic eventration at a tertiary center, with an exploratory analysis of ...
A. R. Ata, S. Şanal
doaj   +1 more source

Diagnosis and treatment of diseases with diaphragmatic anatomic abnormalities [PDF]

Waike lilun yu shijian
Hiatal hernia, para-hiatal hernia, diaphragmatic hernia, diaphragmatic agenesis and diaphragmatic eventration are the main types of the diseases with diaphragmatic anatomic abnormalities.
JI Zhenling
doaj   +1 more source

A Rare Case of Chilaiditi Syndrome as a Driver of Chronic Respiratory Failure

Respirology Case Reports, Volume 13, Issue 11, November 2025.
This case describes a 66‐year‐old woman with chronic hypercapnic and hypoxemic respiratory failure due to Chilaiditi syndrome, an uncommon complication of bowel interposition between the liver and diaphragm. Her course was refractory to noninvasive ventilation and conservative bowel regimens, ultimately proving fatal.
Paige C. Adams, Daniel Kramer
wiley   +1 more source

Thoracotomies in Children in Low to Middle Income Countries: The Indications for Surgery

Pediatric Pulmonology, Volume 60, Issue 10, October 2025.
ABSTRACT Introduction There is a scarcity of data on the utilization of thoracotomy for lung pathology in children in low‐ and middle‐income countries (LMICs). These countries have high burdens of infectious diseases, especially tuberculosis, hydatic disease and Human immunodeficiency virus (HIV).
Jacobus Botha, Pierre Goussard, Jacques Janson, Zane Ismail, Jin Kim, Francois Retief, Jonathan Burke, André Gie, Delano Rhode, Pawel Schubert, Savvas Andronikou   +10 more
wiley   +1 more source