Results 141 to 150 of about 126,048 (295)

Emerging Upper Extremity Muscle Ultrasound Patterns as a Diagnostic Aid in TTN‐Related Myopathies

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Biallelic pathogenic variants in TTN cause rare forms of early‐onset myopathy, manifesting with variable severity, distribution, and progression of muscle weakness, often associated with respiratory insufficiency and potentially cardiomyopathy. The large size of TTN and phenotypic heterogeneity in TTN‐related myopathy (TTN‐RM)
Abigail Potticary, Meghan McAnally, Sandra Donkervoort, Carsten G. Bönnemann   +3 more
wiley   +1 more source

An intriguing autopsy case of gangrene intestine [PDF]

, 2006
Background Hashimoto’s thyroiditis is one of the most common causes of hypothyroidism. Hypothyroidism is a known cause of hyperlipidemia. There is a strong correlation between coronary and mesenteric vessel atherosclerosis.
E., E.Jayashankar, Patnayak, Rashmi Patnayak, Prayaga, Aruna K. Prayaga, Reddy, Rajasekhar Reddy, S.V.N., S.V.N. Anuradha   +4 more
core  

Atrial cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 727-729, April 2025.
Wojciech Kosmala, Monika Przewłocka‐Kosmala   +1 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

Cardiac resynchronization therapy and pulmonary artery banding in advanced heart failure infants with left ventricular dilated cardiomyopathy and left bundle branch block

Pediatric Investigation, EarlyView.
The combination of cardiac resynchronization therapy and pulmonary artery banding was associated with substantial improvement in advanced heart failure infants with left ventricular dilated cardiomyopathy and left bundle branch block. Most patients exhibited marked improvement in clinical status and ventricular function, along with a reduction in QRS ...
Min Zeng, Fan Yang, Quanlin Li, Kai Ma, Zheng Dou, Kunjing Pang, Xinjie Lin, Shoujun Li, Xu Wang   +8 more
wiley   +1 more source

An Unusual Case of 11αB‐Crystallin (CRYAB) Mutation as a Cause of Dilated Cardiomyopathy With Restrictive Physiology: A Case Report and Focused Review of the Literature

Clinical Case Reports
Several diseases have been linked to αB‐crystallin (CRYAB) mutation. However, this mutation is an uncommon cause that has been associated in recent years with the development of dilated cardiomyopathy.
Porras Bueno Cristian Orlando, Cruz Buitrago Roberto Hernando, Mariño Correa Alejandro, Cáceres Méndez Edward Andres, Eugenio Meek, Ríos Dueñas Edgar Giovanni   +5 more
doaj   +1 more source

Chinese Registry on Transjugular Intrahepatic Portosystemic Shunts (CN‐TIPS): Protocol for a Registry‐Based, Prospective Prognostic Study

Portal Hypertension &Cirrhosis, EarlyView.
CN‐TIPS is a nationwide, multicenter prospective registry that will enroll 10,000 adults with portal hypertension undergoing transjugular intrahepatic portosystemic shunt in China, integrating perioperative clinical and hemodynamic metrics with standardized imaging (including computational modeling in a dedicated subcohort) and multi‐omics biospecimens,
Yi Xiang, Yong Lv, Hongwei Zhou, Jianbo Zhao, Meng Niu, Jiacheng Liu, Guangchuan Wang, Qi Zhang, Weizhong Zhou, Beijia Yu, Jun Chi, Guo Han, Jiawei Zhang, Long Gao, Wenjing Liu, Zhang Zhang, Tianyu Liu, Wuhua Guo, He Zhao, Gao‐Jun Teng, Xiaolong Qi   +20 more
wiley   +1 more source

Mendelian Randomization Study on the Associations Between Genetically Predicted Cardiovascular Disease Subtypes and the Risk of Developing Cardiomyopathies

Clinical and Applied Thrombosis/Hemostasis
Cardiomyopathies are commonly believed to have genetic origins; however, the connection between cardiomyopathies and cardiovascular diseases remains uncertain.
Qiaolin Tang MD, Xiangzhu Meng MD, Xiaowen Tu MD, PhD, Jian Zhang MD   +3 more
doaj   +1 more source