Results 41 to 50 of about 63,648 (200)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Intermediate‐Phenotype ABCA3 Deficiency Caused by Compound Heterozygous Variants Presenting as Persistent Respiratory Failure and Systemic Hypertension Since Birth in a Term Infant: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT ABCA3 deficiency should be suspected in term infants with persistent respiratory distress from birth. This case highlights how early whole‐exome sequencing established the diagnosis after extensive investigations, identified an intermediate phenotype caused by compound heterozygous variants, and guided targeted multidisciplinary management.
Ammir Abuzahra, Mohamad Abu Mayalah, Mahmoud Abdelrazzaq Abu Mayaleh, Amani Daabes, Rafad Y. Dweik, Abdelrazzaq Abu Mayaleh   +5 more
wiley   +1 more source

Tracheoesophageal fistula [PDF]

Gastrointestinal Endoscopy, 2004
Hsin-Hui, Chiu, Chan-Ming, Chen, Wu-Feng, Hsieh, Lein-Ray, Mo   +3 more
  +8 more sources

Feasibility of Transoral Robotic Total Laryngectomy With the Da Vinci Single Port Robotic System

Laryngoscope Investigative Otolaryngology, Volume 11, Issue 5, October 2026.
The study reports the successful use of the Da Vinci Single Port (SP) Robotic system for transoral robotic total laryngectomy. Surgical technique is described in detail. The procedure was followed by favorable postoperative recovery and no evidence of locoregional recurrence or delayed complications at 6 months.
Matthias De Witte, Jolente Boulanger, George Lawson, Catherine Dick, Frederick Dochy, Tom Vauterin   +5 more
wiley   +1 more source

Esophageal Atresia and Tracheoesophageal Fistula

, 2019
Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) represents a congenital developmental anomaly. It is the most common congenital malformation of the esophagus characterized by an esophageal discontinuity (the upper esophagus ...
Van der Zee, David C., Van Herwaarden, Maud Y., Tytgat, Stefaan H., Maffi, Michela, Lima, Mario   +4 more
core   +2 more sources

Management of Massive Post‐Tracheostomy Subcutaneous Emphysema With an Adjustable‐Length, Wire‐Reinforced Tracheostomy Tube: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Massive subcutaneous emphysema with pneumomediastinum is a rare but potentially life‐threatening complication following tracheostomy, for which standardized management strategies are lacking. We report the case of a 67‐year‐old man who developed progressive cervicofacial and thoracic subcutaneous emphysema on postoperative Day 9 after an ...
Omar Aboul Hosn, Rita Khattar, Jaafar A. Hadi, Gabriel Dunya, Sami Jean Melki   +4 more
wiley   +1 more source

Anesthetic management for surgery of esophagus atresia in a newborn with Goldenhar's syndrome

Revista Brasileira de Anestesiologia, 2015
BACKGROUND AND OBJECTIVES: Goldenhar's syndrome is a polymalformative condition consisting of a craniofacial dysostosis that determines difficult airway in up to 40% of cases.
Rosana Guerrero-Domínguez, Daniel López-Herrera-Rodríguez, Inmaculada Benítez-Linero, Antonio Ontanilla   +3 more
doaj   +3 more sources

Foreign body ingestions in children and adolescents: A position paper of the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) endoscopy special interest group

Journal of Pediatric Gastroenterology and Nutrition, Volume 83, Issue 3, Page 539-554, September 2026.
Abstract Foreign body (FB) ingestion is a relatively frequent occurrence in the pediatric population with multiple potential sequelae. Appropriate intervention may range from urgent endoscopic retrieval to watchful waiting, with multiple variables influencing the decision.
Oren Ledder, Raoul Furlano, Alexandra Papadopoulou, Dominique Schluckebier, Andreia Nita, Christos Tzivinikos, Salvatore Oliva, Simona Faraci, Luigi Dall'oglio, Marco Deganello Saccomani, Priya Narula, Iva Hojsak, Jorge Amil Dias, Vasiliki Spyropoulou, Lorenzo Norsa, Gokhan Baysoy, Claudio Romano, Matjaž Homan, Mike Thomson   +18 more
wiley   +1 more source

Tracheoesophageal fistula [PDF]

International Journal of Emergency Medicine, 2010
Varghese, Joye, Balakrishnan, Vallath, Narayanan, Venkadeswaran   +2 more
  +6 more sources

Successful closure of intractable tracheoesophageal fistula using a combination of a modified silicon stent and metallic stents

Acta Radiologica Open, 2012
Although surgery is the usual management strategy for acquired benign tracheoesophageal fistula, sometimes this approach is contraindicated or the patient declines surgical management.
S Yata, T Kaminou, M Hashimoto, Y Ohuchi, K Sugiura, A Adachi, T Kawai1, M Endo, S Takasugi, S Yamamoto, K Matsumoto, M Kodani, T Ihaya, H Suyama, T Ogawa   +14 more
doaj   +1 more source