Results 51 to 60 of about 17,400 (188)

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

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

Strangulated Morgagni’s Hernia: A Rare Diagnosis and Management

Case Reports in Surgery, 2016
Morgagni hernia is a rare type of congenital diaphragmatic hernia. It accounts for only 3% of all diaphragmatic hernias. The defect is small and hernia being asymptomatic in the majority presents late in adulthood.
Malav Modi, Amit Kumar Dey, Ajay Mate, Samir Rege   +3 more
doaj   +1 more source

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

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

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

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

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

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles, Damien Sternberg, Marie‐Christine Nougues, Arnaud Isapof, Bruno Eymard, Stéphanie Bauché   +5 more
wiley   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Thoracic Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aims to identify the imaging findings specifically for thoracic anomalies in 1200 Micro‐CT cases, independent of whether the abnormality contributed to the main diagnosis or cause of death. Method We analyzed 1200 Micro‐CT scans in an unselected, consecutive cohort between 2017 and 2024 to identify thoracic anomalies ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source