Results 171 to 180 of about 130,409 (304)

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

American Journal of Medical Genetics Part A, EarlyView.
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

QT and Tpeak‐Tend interval variability: Predictive electrical markers of hospital stay length and mortality in acute decompensated heart failure. Preliminary data

Clinical Cardiology, Volume 45, Issue 12, Page 1192-1198, December 2022., 2022
Abstract Background As previously reported, an increased repolarization temporal imbalance induces a higher risk of total/cardiovascular mortality. Hypothesis The aim of this study was to assess if the electrocardiographic short period markers of repolarization temporal dispersion could be predictive of the hospital stay length and mortality in ...
Gianfranco Piccirillo, Federica Moscucci, Myriam Carnovale, Gaetano Bertani, Ilaria Lospinuso, Ilaria Di Diego, Andrea Corrao, Teresa Sabatino, Giulia Zaccagnini, Davide Crapanzano, Pietro Rossi, Damiano Magrì   +11 more
wiley   +1 more source

STRUCTURAL AND ELECTROPHYSIOLOGICAL PREDICTORS OF A PAROXYSM OF ATRIAL FIBRILLATION

Российский кардиологический журнал, 2001
We have studied the nature of structural and electrophysiological changes in the heart in various forms of paroxysmal atrial fibrillation (PAF) to determine predictors of an onset and relapse.
B. G. Iskenderov, F. K. Rahmatullov
doaj  

Communication between the left ventricle and right atrium [PDF]

, 1967
R. S. Barclay, J. M. Reid, E N Coleman, James G. Stevenson, T. M. Welsh, N. McSwan   +5 more
openalex   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Predictors and morphological properties of culprit healed plaques in patients with angina pectoris

Clinical Cardiology, Volume 45, Issue 12, Page 1199-1210, December 2022., 2022
Abstract Background Plaque healing may serve a vital function in the natural progression of atherosclerotic disease. This study sought to investigate predictors and morphological characteristics of healed plaque (HP) among angina pectoris (AP) patients.
Hongying Yao, Qianyun Guo, Yujing Cheng, Tianyu Zhu, Qian Ma, Yujie Zhou   +5 more
wiley   +1 more source

Catheterization of the left atrium by Ross needle and Seldinger wire techniques. [PDF]

, 1967
D. Vérel
openalex   +1 more source

Association Between Polygenic Risk and Symptom Severity Change After Cognitive Behavioral Therapy for Obsessive‐Compulsive Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A large proportion of patients undergoing cognitive behavior therapy (CBT) for obsessive‐compulsive disorder (OCD) do not respond sufficiently to treatment. Identifying predictors for change in symptom severity after treatment could inform clinical decision‐making, allow for better‐tailored interventions, and avoid treatment failure.
Julia Bäckman, John Wallert, Matthew Halvorsen, Bjorn Roelstraete, Elles de Schipper, Nora I. Strom, Thorstein Olsen Eide, Kira D. Höffler, Manuel Mattheisen, Bjarne Hansen, Gerd Kvale, Kristen Hagen, Jan Haavik, Nordic OCD and Related Disorders Consortium (NORDiC), Julia Bäckman, Long Long Chen, James J. Crowley, Elles de Schipper, Diana Pascal, Jan Haavik, Kristen Hagen, Matthew W. Halvorsen, Bjarne Hansen, Kira D. Höffler, Fredrik Johansson, Anna K. Kähler, Elinor K. Karlsson, Gerd Kvale, Paul Lichtenstein, Kerstin Lindblad‐Toh, Manuel Mattheisen, David Mataix‐Cols, Kathleen Morrill, Christian Rück, Thorstein Olsen Eide, Nora I. Strom, John Wallert, David Mataix‐Cols, Christian Rück, James J. Crowley   +39 more
wiley   +1 more source

Survival benefit of overweight patients undergoing MitraClip® procedure in comparison to normal‐weight patients

Clinical Cardiology, Volume 45, Issue 12, Page 1236-1245, December 2022., 2022
Long‐term survival stratified for weight classes illustrated by Hazard plot for patients treated with MitraClip® implantation stratified for weight classes. Association of weight class compared to normal‐weight with long‐term survival (adjusted for Logistic EuroScore).
Karsten Keller, Martin Geyer, Lukas Hobohm, Alexander R. Tamm, Felix Kreidel, Tobias F. Ruf, Michaela Hell, Volker H. Schmitt, Kevin Bachmann, Sonja Born, Eberhard Schulz, Thomas Münzel, Ralph S. von Bardeleben   +12 more
wiley   +1 more source

Multi-Model Ensemble Approach for Accurate Bi-Atrial Segmentation in LGE-MRI of Atrial Fibrillation Patients [PDF]

arXiv
Atrial fibrillation (AF) is the most prevalent form of cardiac arrhythmia and is associated with increased morbidity and mortality. The effectiveness of current clinical interventions for AF is often limited by an incomplete understanding of the atrial anatomical structures that sustain this arrhythmia.
arxiv