Results 141 to 150 of about 26,269 (257)

Optimized Reduced Field of View and Fat Suppression Methods for Interleaved Multislice In Vivo Cardiac Diffusion Tensor Imaging

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose Slice interleaving, a limited phase encode (PE) field of view (FOV), and effective fat suppression are vital for efficient cardiac diffusion tensor imaging (cDTI) with minimal artifacts. This study aimed to optimize reduced FOV and fat suppression methods for interleaved multislice cDTI to improve signal‐to‐noise ratio (SNR) and ...
Yaqing Luo, Pedro F. Ferreira, Ke Wen, Ricardo Wage, Guang Yang, Dudley J. Pennell, Sonia Nielles‐Vallespin, Andrew D. Scott   +7 more
wiley   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 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

A case of restrictive cardiomyopathy

Indian Heart Journal, 2015
R. Girish, G. Mullick
doaj   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +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

Heart Failure in Hypertrophic Cardiomyopathy. [PDF]

Card Fail Rev
Nguyen O, Kamna D, Masri A.
europepmc   +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

Correction: The MYH7 c.2770G > A (p.Glu924Lys) mutation exhibits phenotypic heterogeneity in hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM): a case report. [PDF]

BMC Cardiovasc Disord
Han Y, Wang H, Zhang H, Wang M, Gan L, Meng F.   +5 more
europepmc   +1 more source