Results 71 to 80 of about 1,957 (209)

Fetal Presentation of MYRF‐Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis

Prenatal Diagnosis, Volume 44, Issue 13, Page 1647-1658, December 2024.
ABSTRACT Purpose MYRF‐related cardiac‐urogenital syndrome (MYRF‐CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF‐CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far.
Maud Favier, Elise Brischoux‐Boucher, Louise C. Pyle, Nicolas Mottet, Marion Auber‐Lenoir, Julie Cattin, Eric Dahlen, Christelle Cabrol, Francine Arbez‐Gindre, Tania Attié‐Bitach, Odile Boute, Louise Devisme, Detlef Trost, Aicha Boughalem, David Chitayat, Lev Prasov, Odelia Chorin, Annick Rein‐Rothschild, Eran Kassif, Tal Weissbach, Laura Godfrey Hendon, Margaret P. Adam, Chloé Quelin, Sylvie Jaillard, Laura Mary, Sietse M. Aukema, Malou Heijligers, Christine de Die‐Smulders, Sander Stegmann, Lauren Badalato, Adi Ben‐Yehuda, Claire Beneteau, Pierre‐Louis Forey, Paul Kuentz, Juliette Piard   +34 more
wiley   +1 more source

Aid decision algorithms to estimate the risk in congenital heart surgery [PDF]

, 2016
Background and objective: In this paper, we have tested the suitability of using different artificial intelligence-based algorithms for decision support when classifying the risk of congenital heart surgery.
Marin-Alonso, Oscar, Monsalve Torra, Ana, Ruiz-Fernandez, Daniel, Soriano Payá, Antonio, Triana Palencia, Eddy   +4 more
core   +2 more sources

Retrospective Cohort Study of Associated Factors for Intestinal Complications in Pediatric Liver Transplantation

Pediatric Transplantation, Volume 28, Issue 8, December 2024.
Intestinal complications (IC) are significant adverse events following liver transplantation (LT), yet research on pediatric cohorts remains limited. This study aims to describe IC in children after LT and identify factors associated with their occurrence.
Sindy Pires, Valérie A. McLin, Nathalie Rock, Ana‐Maria Calinescu, Barbara E. Wildhaber   +4 more
wiley   +1 more source

Polysplenia syndrome in the adult patient. Case report with review of the literature

Annals of Hepatology, 2004
Aims: To report a case of polysplenia syndrome (PSS) in an adult patient. Background: The PSS is a form of situs ambiguos with multiple spleen, cardiac anomalies, abdominal heterotaxia, short pancreas, major venous system and bronquial malformations.
Juan José Plata-Muñoz, Daniel Hernández-Ramírez, Francisco Javier Anthón, Eitan Podgaetz, Francisco Avila-Flores, Carlos Chan   +5 more
doaj   +1 more source

Introduction of transcatheter edge‐to‐edge repair in patients with congenital heart disease at a children's hospital

Catheterization and Cardiovascular Interventions, Volume 103, Issue 2, Page 326-334, February 1, 2024.
Abstract Background Atrioventricular valve regurgitation (AVVR) is a devastating complication in children and young adults with congenital heart disease (CHD), particularly in patients with single ventricle physiology. Transcatheter edge‐to‐edge repair (TEER) is a rapidly expanding, minimally invasive option for the treatment of AVVR in adults that ...
Matthew A. Jolley, Analise Sulentic, Silvani Amin, Mudit Gupta, Stephen Ching, Alana Cianciulli, Yan Wang, Patricia Sabin, Christopher Zelonis, Matthew Daemer, Elizabeth Silvestro, Keith Coleman, Lauren K. Ford, Jonathan B. Edelson, Emily S. Ruckdeschel, Meryl S. Cohen, Susan C. Nicolson, Matthew J. Gillespie   +17 more
wiley   +1 more source

Coincidence of Polysplenia, Kartagener Syndrome, Dorsal Pancreas Agenesis, and Polycystic Kidney Disease in an Adult

Eurasian Journal of Medicine, 2019
Here we present the case of an adult male patient with the anomalies of polysplenia, Kartagener syndrome, dorsal pancreas agenesis, and adult polycystic kidney disease.
Mustafa Kemal Demir, Yavuz Furuncuoglu
doaj   +1 more source

Diagnóstico imagenológico en el Síndrome de Abernethy [PDF]

, 2017
El shunt portosistémico congénito (SPSC) o Síndrome de Abernethy es una patología muy poco frecuente, descrita por primera vez en 1793 por John Abernethy.
Bufaliza, Jorge, Correa, Roberto, Gutierrez, Mario, Manzino, Ricardo, Pérez Monteleone, Leonardo E.   +4 more
core  

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia [PDF]

, 2010
Generalised lymphatic dysplasia (GLD) is characterised by extensive peripheral lymphoedema with visceral involvement. In some cases, it presents in utero with hydrops fetalis. Autosomal dominant and recessive inheritance has been reported.
Brice, G, Bunyan, DJ, Connell, F, Homfray, T, Jeffery, S, Kalidas, K, Lymphoedema Consortium, Mansour, S, Mitton, S, Mortimer, P, Ostergaard, P, Roberts, L   +11 more
core   +1 more source

Polysplenia Syndrome: A Case Report

Scholars Journal of Medical Case Reports, 2023
Polysplenia syndrome is a rare congenital disorder belonging to the large spectrum of situs ambigus syndromes. It is characterized by the association of multiple spleens with other vascular, cardiac, intestinal and biliary anomalies. We report the case of an 8 year-old-girl suffering of chronic abdominal pain resistant to symptomatic treatment ...
C. Nasmi, A. Radi, R. Abilkassem, A. Agadr   +3 more
openaire   +1 more source

Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype

Molecular Genetics & Genomic Medicine, 2020
Background There are few reports describing the proximal deletions of the short arm of chromosome 20, making it difficult to predict the likely consequences of these deletions.
Idris Mohammed, Sara Al‐Khawaga, David Bohanna, Abdusamea Shabani, Faiyaz Khan, Donald R. Love, Zafar Nawaz, Khalid Hussain   +7 more
doaj   +1 more source