Results 151 to 160 of about 1,014,709 (316)

A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 228-233, January 2023., 2023
Abstract Pulmonary arterial hypertension (PAH) is a disease characterized by pathological remodeling of the pulmonary vasculature causing elevated pulmonary artery pressures and ultimately, right ventricular failure from chronic pressure overload. Heterozygous pathogenic GDF2 (encoding bone morphogenetic protein 9 (BMP9)) variants account for some (>1%)
Paul Upton, Susan Richards, Angela Bates, Karen Y. Niederhoffer, Nicholas W. Morrell, Susan Christian   +5 more
wiley   +1 more source

FedDA-TSformer: Federated Domain Adaptation with Vision TimeSformer for Left Ventricle Segmentation on Gated Myocardial Perfusion SPECT Image [PDF]

arXiv
Background and Purpose: Functional assessment of the left ventricle using gated myocardial perfusion (MPS) single-photon emission computed tomography relies on the precise extraction of the left ventricular contours while simultaneously ensuring the security of patient data.
arxiv  

MMP9High Neutrophils are Critical Mediators of Neutrophil Extracellular Traps Formation and Myocardial Ischemia/Reperfusion Injury

Advanced Science, EarlyView.
During a heart attack, neutrophils rapidly activate and differentiate into a specific subset characterized by high levels of MMP9, a tissue‐damaging enzyme, via the SPI1/CST7 pathway. These neutrophils form harmful net‐like structures (Neutrophil extracellular traps, NETs) that exacerbate heart injury.
Shiyu Hu, Feng Zhang, Jingpu Wang, Jian Zhang, Chenguang Li, Yang Lyu, Yiwen Wang, Rong Huang, Yang Gao, Hongbo Yang, Juying Qian, Wenwen Tang, Jiatian Cao, Junbo Ge   +13 more
wiley   +1 more source

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 234-237, January 2023., 2023
Abstract Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain.
Spatikha Sitaram, Hetalika C. Banka, Grace Vassallo, Julija Pavaine, Adele Fairclough, Ronnie Wright, Lynette Fairbanks, Jörgen Bierau, Lydia Bowden, Bernd Schwahn, Alistair Horman, Siddharth Banka   +11 more
wiley   +1 more source

Advancements in Bio‐Integrated Flexible Electronics for Hemodynamic Monitoring in Cardiovascular Healthcare

Advanced Science, EarlyView.
This review explores the cutting‐edge development of bio‐integrated flexible electronics for real‐time hemodynamic monitoring in cardiovascular healthcare. It covers key physiological indicators, innovative sensing mechanisms, and materials considerations. This paper highlights the application of both invasive and non‐invasive devices in cardiovascular
Ke Huang, Zhiqiang Ma, Bee Luan Khoo
wiley   +1 more source

Further characterization of NFIB‐associated phenotypes: Report of two new individuals

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023
Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella, Eugenia Conti, Bianca Buchignani, Giada Sgherri, Rosa Pasquariello, Flavio Giordano, Paola Cristofani, Roberta Battini, Agatino Battaglia   +8 more
wiley   +1 more source

P-Mamba: Marrying Perona Malik Diffusion with Mamba for Efficient Pediatric Echocardiographic Left Ventricular Segmentation [PDF]

arXiv
In pediatric cardiology, the accurate and immediate assessment of cardiac function through echocardiography is crucial since it can determine whether urgent intervention is required in many emergencies. However, echocardiography is characterized by ambiguity and heavy background noise interference, causing more difficulty in accurate segmentation ...
arxiv  

Noninvasive Assessment of β‐Secretase Activity Through Click Chemistry‐Mediated Enrichment of Neuronal Extracellular Vesicles to Detect Alzheimer's Disease

Advanced Science, EarlyView.
This study presents the NEV β‐secretase activity assay, a groundbreaking method for noninvasive evaluation of β‐secretase activity in Alzheimer's disease (AD) patients, enabling the generation of individualized β‐secretase activity profiles.
Hyoyong Kim, Junseok Lee, Audrey Qian, You‐Ren Ji, Ryan Zhang, Qixin Hu, Christopher Kazu Williams, Han‐Yu Chuang, Matthew D. Smalley, Yaya Xu, Liang Gao, Mary C. Mayo, Ting Zhang, Edwin M. Posadas, Zaldy S. Tan, Harry V. Vinters, Keith Vossel, Shino Magaki, Yazhen Zhu, Hsian‐Rong Tseng   +19 more
wiley   +1 more source

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source

Left ventricular geometry characteristics and clinical outcomes in hemodialysis patients with heart failure with preserved ejection fraction

BMC Cardiovascular Disorders
Background The relationships among left heart remodeling, cardiac function, and cardiovascular events (CEs) in patients with heart failure (HF) with preserved ejection fraction (HFpEF) undergoing maintenance hemodialysis (MHD) remain unclear.
Yi Zhang, Xiaofei Guo, Sijiao Chen, Yin Wang, Jingjing Li, Xiaofeng Sun, Xiaomei Huang   +6 more
doaj   +1 more source