Results 51 to 60 of about 98,800 (266)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Study on Carbamazepine induced electrocardiographic, blood pressure and echocardiographic changes in the dog [PDF]

Āsīb/shināsī-i Darmāngāhī-i Dāmpizishkī, 2019
Carbamazepine is used as an anticonvulsant drug in the treatment of simple slight convulsion and generalized tonic-clonic, trigeminal neuralgia, and also as preventive agent in manic depressive.
R Kaffash Elahi, daryoush mohajeri, alireza nourazar, Yasin Bagheri   +3 more
doaj  

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

TWEAK/Fn14 Signaling Drives Oxidative Cardiac Injury in Systemic Lupus Erythematosus: Evidence From Patient Biomarker Studies, Lupus Mouse Models, and Cardiomyocyte Assays

Arthritis &Rheumatology, EarlyView.
Objective Cardiac involvement is a major cause of morbidity in systemic lupus erythematosus (SLE). Tumor necrosis factor–like weak inducer of apoptosis (TWEAK) is elevated in SLE, but its contribution to lupus‐associated cardiac injury is unclear. We investigated the role of TWEAK/fibroblast growth factor–inducible 14 (Fn14) signaling in SLE‐related ...
Yale Liu, Zhu Yan, Xueting Peng, Meixuan Li, Juan Wang, Yan Zhang, Xiaoqian Hu, Mingzhu Zhou, Kaixuan Ren, Dan Zhang, Xingyi Guo, Yumin Xia, Huanhuan Huo   +12 more
wiley   +1 more source

A Randomized Controlled Trial Comparing the TruSteer and FXD Double Curve Delivery Systems for Left Atrial Appendage Occlusion With the Watchman FLX Pro Device—The GUIDE‐LAAO Study

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Background Deflectable delivery systems have been introduced to enhance coaxial alignment and procedural efficacy during left atrial appendage occlusion (LAAO), yet randomized comparisons with conventional fixed‐curve systems are lacking. Aims The GUIDE‐LAAO trial evaluated whether the TruSteer deflectable delivery system is non‐inferior to ...
Philippe Taieb, Marco Frazzetto, Pedro Soares Teixeira, Steven J. Filby   +3 more
wiley   +1 more source

Coronary Flow in Hypertrophic Obstructive Cardiomyopathy—Immediate Effects of Alcohol Septal Ablation

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Background Hypertrophic cardiomyopathy is associated with alterations in coronary microvascular function which have variable pathophysiologic mechanisms, and variable reversibility acutely and chronically following alcohol septal ablation (ASA).
Vojko V. Misevic, Ana N. Golocevac, Kosta S. Krupnikovic, Stefan B. Timcic, Natalija B. Arnautovic, Dragana D. Radoicic, Milan R. Dobric, Aleksandar D. Mandic, Stefan S. Zivkovic, Aleksa D. Obradovic, Vladimir D. Mihajlovic, Natalija R. Odanovic, Ivan S. Ilic   +12 more
wiley   +1 more source

Transthyretin amyloid cardiomyopathy: Literature review and red‐flag symptom clusters for each cardiology specialty

ESC Heart Failure, Volume 12, Issue 2, Page 955-967, April 2025.
Abstract Wild‐type transthyretin amyloid cardiomyopathy (ATTRwt‐CM) is a progressive and infiltrative cardiac disorder that may cause fatal consequences if left untreated. The estimated survival time from diagnosis is approximately 3–6 years. Because of the non‐specificity of initial symptom manifestation and insufficient awareness among treating ...
Yasuhiro Izumiya, Toru Kubo, Jin Endo, Seiji Takashio, Masatoshi Minamisawa, Jun Hamada, Tomonori Ishii, Hajime Abe, Hiroaki Konishi, Kenichi Tsujita   +9 more
wiley   +1 more source

Comprehensive exploration of unexplained dyspnoea in subjects with normal ejection fraction and low natriuretic peptides

ESC Heart Failure, Volume 12, Issue 2, Page 879-887, April 2025.
Abstract Background Unexplained exertional dyspnoea without significant elevation of natriuretic peptides is common. One of the causes might be early heart failure with preserved ejection fraction (HFpEF). Aims This study aimed to characterize patients with exertional dyspnoea and normal/near‐to‐normal N‐terminal pro‐brain natriuretic peptide (NT ...
Emmanuelle Berthelot, Tarek Laouar, Antoine Beurnier, Nataliya Hrynchynshyn, Jean Christophe Eicher, Jean‐Michel Tartière, Patrick Jourdain, Olivier Lairez, Barnabas Gellen   +8 more
wiley   +1 more source