Results 61 to 70 of about 127,271 (293)

Cardiomyopathy: pathogenesis and therapeutic interventions

MedComm
Cardiomyopathy is a group of disease characterized by structural and functional damage to the myocardium. The etiologies of cardiomyopathies are diverse, spanning from genetic mutations impacting fundamental myocardial functions to systemic disorders ...
Shitong Huang, Jiaxin Li, Qiuying Li, Qiuyu Wang, Xianwu Zhou, Jimei Chen, Xuanhui Chen, Abdelouahab Bellou, Jian Zhuang, Liming Lei   +9 more
doaj   +1 more source

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases

Advanced Science, EarlyView.
Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Parmeshar Singh, Amir Tahavvori, Cyrus E. Kuschner, Blanca B. Espin, Jacob Kazmi, Sofhia V. Ramos, Tai Yin, Kei Hayashida, Kanako Ito‐Hagiwara, Yusuke Endo, Keitaro Yoshioka, Jun Hagiwara, Avijot Sohi, Alisha Oropallo, Ghania Haddad, Timmy Li, Lance B. Becker, Junhwan Kim   +17 more
wiley   +1 more source

Clinical genetic aspects of cardiomyopathies

Journal of the Practice of Cardiovascular Sciences, 2015
Cardiomyopathies are a major cause of heart disease. Not only the patients, but also their families are severely burdened by these illnesses. In the past decade, studies revealed the heterogeneity of these diseases in terms of clinical presentation, as ...
Mitali Kapoor, Sandeep Seth, Vadlamudi Raghavendra Rao   +2 more
doaj   +1 more source

AI‐Assisted Bioelectronics for Personalized Health Management

Advanced Electronic Materials, EarlyView.
Recent advances in artificial intelligence (AI)‐assisted bioelectronics, including materials, device fabrication, working mechanisms, AI‐hardware integration, and proof‐of‐concept applications in digital health management, are summarized. The emergence of AI‐assisted bioelectronic systems and potential solutions to existing challenges are discussed ...
Huiwen Xiong, Changhao Dai, Xuting Chen, Jilie Kong, Dacheng Wei, Xueen Fang, Wenhao Weng   +6 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

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

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Sudden sustained monomorphic ventricular tachycardia in a previously healthy adult with many causes for it, but which one is the correct? A case report [PDF]

Vojnosanitetski Pregled
Introduction. Sustained monomorphic ventricular tachycardia (VT) – SMVT is a rare, underdiagnosed pathology with a very poor prognosis. Along with ventricular fibrillation, SMVT is responsible for nearly all of the arrhythmic sudden cardiac deaths (SCD).
Jović Zoran, Opančina Miljan, Mladenović Zorica, Đurić Predrag, Đurić Ivica, Marić-Kocijačić Jelena, Đenić Nemanja, Opančina Valentina, Obradović Slobodan   +8 more
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

The association of IL-1β, IL-1α, IL-6, and E-selectin with the diastolic dysfunction in patients with type 2 diabetes mellitus and preserved ejection fraction [PDF]

Vojnosanitetski Pregled
Background/Aim. The importance of chronic inflammation, endothelial dysfunction, certain cytokines, and selectins in the development of type 2 diabetes mellitus (T2DM) and cardiovascular diseases (CVDs) is increasingly evident and supported by evidence ...
Marinković Dejan M., Dragović Tamara, Đurić Predrag, Rakočević Jelena, Malović Dragana, Kiković Saša, Stanojević Ivan, Dejanović Bratislav, Ristić Petar, Hajduković Zoran   +9 more
doaj   +1 more source