Results 81 to 90 of about 177,805 (354)

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

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

Cirugía de los aneurismas de aorta abdominal Resultados de los últimos 10 años en el Hospital de Clínicas

Cirugía del Uruguay, 2001
Con el objetivo de conocer la frecuencia y los resultados de la cirugía de los aneurismas de aorta abdominal (AAA) en el Hospital de Clínicas de Montevideo, se recabaron los datos de los pacientes intervenidos entre enero de 1988 y julio de 1998.
Emil Kamaid Toth, Gabriel Dutto, Alejandro Esperón, Daniel López Chapuis, José Piaggio   +4 more
doaj  

Surgery of gigantic infrarenal aneurysm of abdominal aorta [PDF]

Medicinski Glasnik, 2005
The case shows gigantic aneurysm of abdominal aorta, localized infrarenally, as well as aneurysms of bilateral iliac arteries, which were solved successfully by resection of aneurism of abdominal aorta, closure of iliac arteries near aortic bifurcation ...
N. Rustempašić, I. Arslani, D. Totić, A. Hadžimehmedagić, H. Vranić, E. Solaković   +5 more
doaj  

Hemodynamic on abdominal aortic aneurysm: Parametric study [PDF]

, 2014
Peer ReviewedPostprint (author's final ...
Soudah Prieto, Eduardo
core   +1 more source

Growth factors and experimental arterial grafts [PDF]

, 2016
Background: The production of growth factors from several experimental arterial conduits was determined. Methods: We implanted 105 experimental arterial grafts that were 1 cm long in the abdominal aorta of Lewis rats (average weight, 250 g).
BORRELLI, Valeria, CUCINA, Alessandra, DI MARZO, Luca, Lepidi, Sandro, SAPIENZA, Paolo, STERPETTI, ANTONIO, VENTURA, Marco   +6 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Aterosclerosis en edades tempranas de la vida: Estudio patomorfológico y morfométrico aplicando el sistema aterométrico

Revista Cubana de Investigaciones Biomédicas, 1998
Se realizó un estudio de las lesiones ateroscleróticas en 50 aortas de fallecidos menores de 35 años, cuyas causas de muerte no estaban relacionadas con la enfermedad aterosclerótica, separados en 3 grupos de edades y sexo.
Roberto Wong Navarro, José E Fernández-Britto Rodríguez, Daniel Contreras Barrionuevo, Hans Guski   +3 more
doaj  

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

Acute spontaneous isolated dissection of abdominal aorta

Journal of Research in Medical Sciences, 2009
<ul><li>Aortic dissection occurs when the layers of the aorta separate as a result of extra luminal cavity of blood through an intimal tear. Dissection limited to the abdominal aorta is rare.
Ali Akbar beigi, Reza Eshraghi samani
doaj