Results 41 to 50 of about 17,437 (187)

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

Non-traumatic left-sided diaphragmatic hernia causing volvulus in an adult

Radiology Case Reports, 2023
Diaphragmatic hernias can be classified into congenital and acquired types. Most cases of congenital diaphragmatic hernia present early in life with respiratory distress while acquired diaphragmatic hernia usually presents following a history of trauma ...
Ahmed T. Abdelhamid, MBChB
doaj   +1 more source

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
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

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

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 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

Anti‐Reflux Procedures in Australia, 2000/1 to 2023/4: Increasing Rates in Females and in Older Patients

ANZ Journal of Surgery, EarlyView.
Anti‐reflux and paraoesophageal hernia surgery rates in Australia rose markedly from 2000 to 2024, especially among females and older adults. Hiatal closure procedures increased while isolated fundoplasty declined, highlighting shifting surgical practice and notable sex‐ and age‐related differences in treatment patterns.
Christopher Goubar, Thomas Goubar, Douglas Fenton‐Lee, R. Louise Rushworth   +3 more
wiley   +1 more source

Shoulder‐Tip Pain After Laparoscopic Surgery: A Narrative Review of Intraperitoneal Anaesthesia

ANZ Journal of Surgery, EarlyView.
ABSTRACT Background and Aims Shoulder‐tip pain is a common and distressing side effect following laparoscopic surgery. Standard systemic analgesic regimens are used to manage postoperative pain but are often associated with side effects such as nausea and vomiting.
Jason Arsanious, Alice Osterwalder, Sarah K. Thompson   +2 more
wiley   +1 more source