Results 61 to 70 of about 34,144 (241)

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 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

Late presentation of a congenital problem; complicated left-sided Bochdalek's hernia in an adult: A case report

Respiratory Medicine Case Reports, 2023
Background: A diaphragmatic hernia is a defect or hole in the diaphragm through which abdominal contents can enter the chest cavity. Diaphragmatic hernias may be congenital (Morgagni hernia, Bochdalek hernia), a hiatal hernia, or acquired (iatrogenic and
Safwat Eldaabossi, Yasser Al-Ghoneimy, Yasser G. Abish, Abdallah Farouk, Hatem Kanany, Ahmed Taha, Ahmed Kabil, Usama Nabawi, Ahmed Lofty, Sameh Makled, Waheed Mahdi, Boshra Zagloul   +11 more
doaj   +1 more source

Abdominal intercostal hernia: a rare complication after blunt trauma. [PDF]

, 2013
Abdominal intercostal hernia (AIH) is uncommonly reported in the literature with only 20 cases reported to date.1–3 We report a case of a delayed incarcerated AIH secondary to blunt trauma from a motor vehicle accident in which the colon and diaphragm ...
Cowan, MD, Scott W., Jenoff, MD, Jay S., Nguyen, B.A., Phi D, Pucci, MD, Michael J.   +3 more
core   +1 more source

Decellularized diaphragmatic muscle drives a constructive angiogenic response in vivo [PDF]

, 2018
Skeletal muscle tissue engineering (TE) aims to efficiently repair large congenital and acquired defects. Biological acellular scaffolds are considered a good tool for TE, as decellularization allows structural preservation of tissue extracellular matrix
Alvar\ue8z Fallas, Mario, Bertin, Enrica, Burns, Alan, De Coppi, Paolo, Dedja, Arben, Franzin, Chiara, Gamba, Piergiorgio, Piccoli, Martina, Pozzobon, Michela, Sgr\uf2, Alberto, Trevisan, Caterina, Urbani, Luca   +11 more
core   +4 more sources

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Thoracoscopic operations in children [PDF]

, 2014
published_or_final_versio
CT Lau, Jessie Leung, Kenneth KY Wong, null null, Theresa WC Hui   +4 more
core   +1 more source

Best Practice Imaging in the Initial Investigation of Paediatric Blunt Abdominal Trauma: A Narrative Review

Journal of Medical Radiation Sciences, EarlyView.
This narrative review synthesises current literature regarding paediatric blunt abdominal trauma imaging. It discusses the diagnostic performance of Focused Assessment with Sonography for Trauma, unenhanced and contrast‐enhanced ultrasound, as well as the impact of clinical decision rules for CT on clinical outcomes and radiation dose savings ...
Gemma Dongwon Lee, Shirley La, Minh Thien Le, Amy Li, Xiaofeng Li, Warren Reed   +5 more
wiley   +1 more source

A novel central line securement vest reduces line trauma and improves quality of life in patients with intestinal failure

JPGN Reports, EarlyView.
Abstract Objective We sought to assess the impact of a novel central line securement vest on the rate of line complications (trauma, infections, and replacements), and measures of quality of life (QOL) in pediatric patients with intestinal failure. Methods We enrolled patients at a single tertiary pediatric center.
Ryan E. St. Pierre‐Hetz, Kimberly S. Ackerman, Angelica M. Cercone, Jane Anne Yaworski, Clifton W. Callaway, Jeffrey A. Rudolph, Mioara D. Manole   +6 more
wiley   +1 more source

Faecopneumothorax due to missing diaphragmatic hernia: a case report

Journal of Medical Case Reports, 2021
Background Diaphragmatic hernias may occur as either congenital or acquired. The most important cause of acquired diaphragmatic hernias is trauma, and the trauma can be due to blunt or penetrating injury.
Resul Nusretoğlu, Yunus Dönder
doaj   +1 more source