Results 231 to 240 of about 99,627 (293)

Expansion of the Phenotypic and Genotypic Spectrum of MED13L‐Associated Neurodevelopmental Disorder: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Here we report a novel de novo duplication of exons 8–16 of the MED13L gene in a patient with MED13L syndrome, presenting with an unreported phenotype: cleft lip. A review of previously reported patients with MED13L copy number variants is also conducted to refine genotype–phenotype correlations.
Zhongqing Wang, Xin Chen, Ziyun Cui, Xinyue Qi, Li Gu, Yi Liu, Wenjing Zhao, Yan Jiang   +7 more
wiley   +1 more source

A Case Report of Coronary Artery Stenosis Induced by Ablation for Premature Ventricular Complexes. [PDF]

Cureus
Schaar M, Werling A, Tran S, Mohanty J.
europepmc   +1 more source

A Non‐Channel Function of CFTR: Attenuating Mitochondrial Oxidative Stress and Cardiomyocyte Senescence via Stabilization by USP45

Aging Cell, Volume 25, Issue 7, July 2026.
USP45 stabilizes CFTR through deubiquitination, thereby activating PMCA, which inhibits calcium/chloride overload and mitochondrial oxidative stress in senescent cardiomyocytes, ultimately alleviating cardiomyocyte senescence. ABSTRACT Cardiomyocyte senescence drives cardiovascular disease, underscoring the need to define its molecular mechanisms.
Chun Chen, Longtan Jiang, Yuewen Qiu, Chong Liu, Xiao Long, Pengcui Wu, Liang Li, Haixia Xu, Ping Deng, Li Yang, Qiao Jin   +10 more
wiley   +1 more source

Successful ablation of premature ventricular complexes arising from the posteromedial papillary muscle using Pulse Field Ablation. [PDF]

HeartRhythm Case Rep
Vasquez N, Chrispin J.
europepmc   +1 more source

An Accessible Algorithm for the Quick and Precise Interpretation of Atrioventricular Blocks in Electrocardiograms

Annals of Noninvasive Electrocardiology, Volume 31, Issue 4, July 2026.
Interpretation of electrocardiograms (ECGs) using an algorithm can improve the detection and diagnosis of atrioventricular blocks in clinical practice. The proposed algorithm, with its high accuracy and structured approach, can help both experienced and less‐experienced healthcare professionals interpret ECGs with more precision, leading to early ...
Ali A. Ashkanani, Ali H. Ashkanani, Mohammad F. Alkandari, Malak A. Ashkanani, Maraheb M. Alkhalidi   +4 more
wiley   +1 more source

Dofetilide for the treatment of premature ventricular complexes and ventricular tachycardia in patients with structural heart disease. [PDF]

J Cardiovasc Electrophysiol
Deshmukh A, Yokokawa M, McBride D, Simpson J, Chou A, Ghannam M, Liang JJ, Saeed M, Cunnane R, Ghanbari H, Latchamsetty R, Crawford T, Jongnarangsin K, Pelosi F, Chugh A, Morady F, Bogun F, Oral H.   +17 more
europepmc   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Diving Deep into Arrhythmias: Unravelling the Impact of Underwater Environments on Premature Ventricular Complexes in Divers. [PDF]

J Clin Med
Ranic I, Jiravsky O, Cesnakova Konecna A, Jiravska Godula B, Pesova P, Chovancik J, Neuwirth R, Sknouril L, Pudil R, Plasek J.   +9 more
europepmc   +1 more source

Neonates born at term with periventricular haemorrhagic infarction: Risk factors and clinical presentation

Developmental Medicine &Child Neurology, Volume 68, Issue 7, Page 1005-1012, July 2026.
This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova, Jeroen Dudink, Floris Groenendaal, Maarten H. Lequin, Manon J.N.L. Benders, Maria Luisa Tataranno, Elise Roze   +6 more
wiley   +1 more source