Results 51 to 60 of about 166,333 (293)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Presentación tardía de hernia diafragmática traumática con necrosis gástrica: revisión de la literatura científica Delayed presentation of diaphragmatic hernia with gastric necrosis: literature review

Revista Colombiana de Cirugía, 2013
La hernia diafragmática complicada de presentación tardía constituye una urgencia quirúrgica debido a la isquemia y eventual necrosis y gangrena de los órganos herniados.
Marcelo A Beltrán
doaj  

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Hernia diagfragmática congénita derecha en el Hospital Universitario de Santander Right congenital diaphragmatic hernia at the Hospital Universitario de Santander

Salud UIS, 2010
Introducción: La hernia diafragmática del lado derecho es una variable poco frecuente de los defectos congénitos diafragmáticos que permiten el paso del contenido abdominal a la cavidad torácica, causando graves trastornos en el desarrollo pulmonar fetal.
Julio César Mantilla, Mario Alexander Melo, Lorena María Vargas   +2 more
doaj  

Proof of concept of an accelerometer as a trigger for unilateral diaphragmatic pacing: a porcine model

BioMedical Engineering OnLine, 2023
Background Unilateral diaphragmatic paralysis in patients with univentricular heart is a known complication after pediatric cardiac surgery. Because diaphragmatic excursion has a significant influence on perfusion of the pulmonary arteries and ...
Tobias Kratz, Roman Ruff, Timo Koch, Anne-Sophie Kronberg, Johannes Breuer, Boulos Asfour, Ulrike Herberg, Benjamin Bierbach   +7 more
doaj   +1 more source

Diaphragmatic injuries [PDF]

European Journal of Cardio-Thoracic Surgery, 2001
(1) To determine the actual incidence rate of blunt and penetrating diaphragmatic injuries (DI); (2) to evaluate the effectiveness of urgent surgical intervention for treatment of DI; and (3) to reveal main causes of postoperative complications.We reviewed: (1) forensic medical examination charts of 3353 subjects, who died due to polytrauma (including ...
openaire   +2 more sources

Pentalogy of Cantrell : the first Maltese case with successful outcome [PDF]

, 1997
Pentalogy of Cantrell is a rare disorder which was first described by Cantrell and his colleagues in 1958. It is comprised of congenital heart disease and midline defects.
Grech, Victor E., Parascandalo, Raymond, Rees, Philip G.   +2 more
core  

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Elective Laparoscopic Repair after Colonoscopic Decompression for Incarcerated Morgagni Hernia

Gut and Liver, 2009
Plain radiographs of an 88-year-old woman who had experienced vomiting and abdominal distention for 3 days revealed a severely obstructed ileus, and abdominopelvic computed tomography revealed an incarcerated Morgagni hernia.
doaj   +1 more source

A contribution to the anatomy of two rare cetacean species: The hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica)

The Anatomical Record, EarlyView.
Abstract The anatomical description of the hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica) remains largely unexplored, due to limited specimen availability and preservation challenges. This study employed digital imaging techniques, conventional histology, and computed tomography to provide visualization of
Jean‐Marie Graïc, Tommaso Gerussi, Bruno Cozzi, Rebecca M. Boys, Brian Chin Wing Kot, Matthew R. Perrott, Kane Fleury, Tabris Yik To Chung, Henry Chun Lok Tsui, Emma Burns, Trudi Webster, Stuart Hunter, Emma L. Betty, Odette Howarth, Carolina Loch, Sophie White, Steve Dawson, William Rayment, Ros Cole, Derek Cox, Tom Waterhouse, Hannah Hendriks, Anton van Helden, Muriel Johnstone, Ramari Oliphant Stewart, R. Ewan Fordyce, Karen A. Stockin   +26 more
wiley   +1 more source