Results 181 to 190 of about 295,803 (194)

Synthetic Electrocardiogram Spectrogram Generation Using Generative Adversarial Network‐Based Models: A Comparative Study

Advanced Intelligent Systems, EarlyView.
Cardiovascular diseases are leading death causes; electrocardiogram (ECG) analysis is slow, motivating machine learning and deep learning. This study compares deep convolutional generative adversarial network, conditional GAN, and Wasserstein GAN with gradient penalty (WGAN‐GP) for synthetic ECG spectrograms; Fréchet Inception Distance (FID) and ...
Giovanny Barbosa‐Casanova, Norelli Schettini, Winston Percybrooks, Begoña García‐Zapirain   +3 more
wiley   +1 more source

Building an Intelligent Cardiovascular System Platform: Embedding Artificial Intelligence across All Facets of Cardiovascular Medicine

Advanced Intelligent Systems, EarlyView.
This paper presents an integrated AI‐driven cardiovascular platform unifying multimodal data, predictive analytics, and real‐time monitoring. It demonstrates how artificial intelligence—from deep learning to federated learning—enables early diagnosis, precision treatment, and personalized rehabilitation across the full disease lifecycle, promoting a ...
Mowei Kong, Xingwei Zhao, Qiuting Li, Yang Yu, Chunxiang Zhang   +4 more
wiley   +1 more source

Hetrombopag Added to Cyclosporine as the First‐Line Treatment for Patients With Non‐Severe Aplastic Anemia: A Phase 2 Multicenter Trial

American Journal of Hematology, EarlyView.
ABSTRACT Non‐severe aplastic anemia (NSAA) is a heterogeneous bone marrow failure syndrome with limited standardized treatment options. Cyclosporine A (CsA) monotherapy often yields suboptimal responses, highlighting an unmet clinical need for more effective therapies.
Lele Zhang, Ruonan Li, Qian Liang, Weiwang Li, Hong Pan, Zhen Gao, Liwei Fang, Jingyu Zhao, Xiao Yu, Zhexiang Kuang, Neng Nie, Jianping Li, Jinbo Huang, Xin Zhao, Meili Ge, Yizhou Zheng, Jun Li, Hong Zhang, Jun Shi   +18 more
wiley   +1 more source

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

American Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova, Dusan Hrckulak, Veronika Zimolova, Felipe R. Lorenzo, Jihyun Song, Katerina Vecerkova, Olga Babosova, Linda Berkova, Vladimir Korinek, Steve Elliott, Josef T. Prchal   +10 more
wiley   +1 more source

Impact of Secondary Prevention on Mortality in the Building Trades National Medical Screening Program: Effectiveness of Occupational High‐Risk Management

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Since 1997 the Building Trades National Medical Screening Program (BTMed) has offered medical exams to construction workers employed in US nuclear weapons facilities. The process consists of two steps: (1) a detailed work history interview; and (2) a medical exam.
Knut Ringen, John M. Dement, Marianne Cloeren, Sammy Almashat, William Grier, Stella Hines, Laura S. Welch, Kim Cranford, Scott Haas, Patricia Quinn, Anna Chen, Miles Fisher   +11 more
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Treg Cells Modulate Neuroinflammation and Behavioral Deficits in Autism: Evidence From MR‐Based Genetic Analyses and Experimental Models

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental condition that is increasingly linked to immune dysfunction and neuroinflammation. Regulatory T cells (Tregs), which are crucial in maintaining immune homeostasis, have been implicated in the pathogenesis of ASD.
Zuqing Nie, Xinyi Xu, Junhao Chen, Huiling Chen, Meng Li, Yang Zhang, Zhiwei Li, Chen Shen, Jie Wen, Xia Cao   +9 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source