Results 151 to 160 of about 549,153 (219)

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 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

Metabolic alterations in human pulmonary artery smooth muscle cells treated with PDGF‐BB

Animal Models and Experimental Medicine, EarlyView.
Metabolic abnormalities are considered to play a key regulatory role in vascular remodeling of pulmonary arterial hypertension. We analyzed the metabolome in the culture supernatants of human pulmonary artery smooth muscle cells (PASMC) during the malignant proliferation phenotype transition via a targeted metabolomics method. Significant and extensive
Meng‐Jie Zhang, Jie‐Jian Kou, Hong‐Da Zhang, Xin‐Mei Xie, Yun‐Feng Zhou, Ping Yuan, Xiao‐Bin Pang, Lu‐Ling Zhao, Jing Qiu, Yang‐Yang He   +9 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

In vivo toxic and lethal cardiorespiratory effects of a synthetic quaternary ammonium salt derivative of haloperidol in mice

Animal Models and Experimental Medicine, EarlyView.
Hematoxylin–eosin (H&E) stains of the heart, liver, lung, and kidney show acute toxicity. Abstract Background To investigate the toxicity of N‐n‐butyl haloperidol iodide (F2), a quaternary ammonium salt derivative of haloperidol, in mice for potential therapeutic purposes. Methods The acute median lethal dose (LD50) of F2 was determined using the Bliss
Jilin Liao, Binger Lu, Jinhua Yang, Xiaowan Wang, Shuxian Li, Hongbo Fu, Fenfei Gao   +6 more
wiley   +1 more source

Predictive value of HMGB1 for atrial fibrillation recurrence after cryoballoon ablation in paroxysmal atrial fibrillation patients

Clinical Cardiology, Volume 45, Issue 12, Page 1229-1235, December 2022., 2022
Abstract Background Cryoballoon ablation (CBA) is recommended for patients with symptomatic drug refractory paroxysmal atrial fibrillation (pAF). However, substantial atrial fibrillation (AF) recurrence is common during follow‐up. Searching for a potential biomarker representing both myocardial injury and inflammation to identify patients at high risk ...
Xinxin Li, Cuiting Zhao, Meng Li, Hongxiao Yu, Xiping Liu, Qing Zhu, Xiaokun Song, Yonghuai Wang, Bo Yu, Chunyan Ma   +9 more
wiley   +1 more source

Regional Cerebral Atrophy Contributes to Personalized Survival Prediction in Amyotrophic Lateral Sclerosis: A Multicentre, Machine Learning, Deformation‐Based Morphometry Study

Annals of Neurology, EarlyView.
Objective Accurate personalized survival prediction in amyotrophic lateral sclerosis is essential for effective patient care planning. This study investigates whether grey and white matter changes measured by magnetic resonance imaging can improve individual survival predictions.
Isabelle Lajoie, Canadian ALS Neuroimaging Consortium (CALSNIC), Sanjay Kalra, Mahsa Dadar   +3 more
wiley   +1 more source

The brain‐before‐heart strategy for coronary artery bypass grafting in the severely atherosclerotic aorta: A single‐institution experience

Clinical Cardiology, Volume 45, Issue 12, Page 1264-1271, December 2022., 2022
Abstract Background Severe atherosclerosis of the ascending aorta (SAA) in patients undergoing surgical revascularization by coronary artery bypass grafting (CABG) is becoming an increasing problem as more elderly patients are diagnosed with coronary artery disease.
Rakan I. Nazer, Ali M. Albarrati
wiley   +1 more source

Cholinergic Degeneration and Cognitive Function in Early GBA1‐Related Parkinson's Disease

Annals of Neurology, EarlyView.
Objective The phenotype of patients with Parkinson's disease carrying GBA1 variants (GBA‐PD) suggest similarities to symptomatology associated with early cholinergic system degeneration. Therefore, this study aims to investigate the clinical features and the cholinergic innervation pattern in patients with early GBA‐PD versus those without the GBA1 ...
Sofie Slingerland, Sygrid van der Zee, Giulia Carli, Anne C. Slomp, Emile d'Angremont, Jeffrey M. Boertien, Teus van Laar   +6 more
wiley   +1 more source