Results 141 to 150 of about 124,876 (307)

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, Francesca Del Vecchio Blanco, Mariateresa Zanobio, Margherita Scarpato, Margherita Russo, Maria Elena Onore, Giulio Piluso, TUDP Study Group, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Manuela Morleo, Nicola Brunetti Pierri, Giancarlo Parenti, Carmine Spampanato, Giulio Piluso, Michele Pinelli, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Andrea Accogli, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Donatella Milani, Corrado Romano, Pinella Failla, Donatella Greco, Chiara Pantaleoni, Claudia Ciaccio, Stefano D’Arrigo, Antonietta Coppola, Teresa Mattina, Marcella Zollino, Domizia Pasquetti, Federica L. Erario, Albina Tummolo, Claudia Santoro, Anna Grandone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Vincenzo Nigro, Gioacchino Scarano, Annalaura Torella   +52 more
wiley   +1 more source

Employing a Haemodynamic Score to Predict Acute Kidney Injury in Infants With Patent Ductus Arteriosus

Acta Paediatrica, Volume 114, Issue 7, Page 1609-1615, July 2025.
ABSTRACT Aim This study hypothesised that infants with a haemodynamically significant patent ductus arteriosus (hsPDA) as defined by a validated score have a higher incidence of acute kidney injury (AKI). Methods A retrospective study was conducted including infants < 29 weeks' gestation, born at the Rotunda Hospital.
Dermot Wildes, Rachel Mullaly, Caoimhe Costigan, Atif Awan, Afif El‐Khuffash, Michael A. Boyle   +5 more
wiley   +1 more source

911 Usefulness of real-time three-dimensional echocardiography in the assessment of degenerative mitral valve insufficiency before surgical repair: preliminary data and clinical applications [PDF]

, 2003
Antonio Grimaldi, Eleonora Ficarra, A. Marchini, Francesco Maisano, Ottavio Alfieri, Giovanni La Canna   +5 more
openalex   +1 more source

Evaluation of Subjective Assessment of Right Heart Size and Function Using Standard 2D‐Echocardiographic Recordings in Horses With and Without Pulmonary Hypertension

Journal of Veterinary Internal Medicine, Volume 39, Issue 4, July/August 2025.
ABSTRACT Background Echocardiographic evaluation of right heart (RH) size and function in horses is challenging and relies on subjective assessment. Objectives Evaluate inter‐ and intra‐rater agreement of subjective assessment of RH size, RH function, and the presence of pulmonary hypertension (PHT) in horses.
Julia N. van Spijk, Hannah K. Junge, Christina Eberhardt, Natalie Wolf, Debora Vogt, Paula Zscherpe, Elena Herger, Manon Straub, Colin C. Schwarzwald   +8 more
wiley   +1 more source

Rare Association of Absent Pulmonary Valve Syndrome with Double Outlet Right Ventricle and Hypoplastic Left Heart Complex [PDF]

, 2020
Arya, Bhawna, Buddhe, Sujatha, Chikkabyrappa, Sathish, Doshi, Arpan, Frandsen, Erik   +4 more
core   +2 more sources

Tricuspid valve dysplasia in dogs [PDF]

, 2018
A general overview of tricuspid valve dysplasia in dogs is presented in this review. This congenital disease has been described in numerous large dog breeds but especially the Labrador retriever is predisposed.
Bavegems, Valérie, Broeckx, Bart, De Rooster, Hilde, Favril, Sophie, Peelman, Luc, Smets, Pascale   +5 more
core   +1 more source

Preoperative Prediction Models for 30‐Day All‐Cause Mortality After Mitral Valve Repair in Dogs: A Single‐Center Retrospective Cohort Study

Journal of Veterinary Internal Medicine, Volume 39, Issue 4, July/August 2025.
ABSTRACT Background Mitral valve repair (MVR) has emerged as a novel surgical intervention for dogs with myxomatous mitral valve disease (MMVD). However, no objective risk assessment method has been established for these cases. Objectives The primary aim of this study was to develop and evaluate preoperative prediction models for 30‐day postoperative ...
Shimon Furusato, Kentaro Kurogochi, Masashi Mizuno, Satoru Shinoda, Reo Tanoshima, Masami Uechi   +5 more
wiley   +1 more source

Videoassisted mitral valve replacement

Revista Cubana de Cardiología y Cirugía Cardiovascular, 2012
The surgery of the mitral valve has been a great challenge since the beginnings of the cardiovascular surgery, the surgical options to board this valverange from percutaneous methods to dilate it, till the substitution for a prosthetic heart valve ...
Alexander Candeaux, Antonio de Arazoza Hernández, Aylen Pérez Barreda, Fausto Rodríguez Salgueiro, Osvaldo Valdés Dupeirón, Miguel Ángel Carrasco Molina   +5 more
doaj  

Long-term outcome after mitral valve repair: a risk factor analysis [PDF]

, 2017
Objective: Mitral valve repair is the gold standard to restore mitral valve function and is now known to have good long-term outcome. In order to help perioperative decision making, we analyzed our collective to find independent risk factors affecting ...
Eisa, Karam, Hurni, Michel, Rey Meyer, Marie-Antoinette, Ruchat, Patrick, Stumpe, Frank, von Segesser, Ludwig K.   +5 more
core  

Retrospective Evaluation of Transcatheter Edge‐To‐Edge Mitral Valve Repair in Dogs With Myxomatous Mitral Valve Disease

Journal of Veterinary Internal Medicine, Volume 39, Issue 4, July/August 2025.
ABSTRACT Background Transcatheter edge‐to‐edge repair (TEER) is an emerging minimally invasive mitral valve repair treatment for dogs with myxomatous mitral valve disease (MMVD), but reports on its outcomes are limited. Objective Describe the clinical characteristics and complications in dogs with MMVD undergoing TEER.
Jeong‐Min Lee, Kyoung‐a Youp, Sun‐Tae Lee, Ah‐Ra Lee, Young‐Wook Cho, Youn‐Seo Jung, Jiwoong Her, Seung‐Keun Lee   +7 more
wiley   +1 more source