Results 101 to 110 of about 2,835,177 (286)

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Takotsubo cardiomyopathy: etiology, diagnosis, and optimal management

Research Reports in Clinical Cardiology, 2014
Siu-Hin Wan, Jackson J Liang Department of Internal Medicine, Mayo Clinic and Foundation, Rochester, MN, USA Abstract: Takotsubo cardiomyopathy, also known as stress-induced cardiomyopathy or apical ballooning syndrome, is a condition of stress-induced ...
Wan SH, Liang JJ
doaj  

Clinical Characteristics and Outcomes of Patients With Takotsubo Syndrome Complicated With Acute Mitral Regurgitation

JACC: Advances
Background: Acute mitral regurgitation (MR) is a serious complication of takotsubo syndrome (TTS). However, its incidence and prognostic implications are still poorly investigated.
Angelo Silverio, MD, PhD, Michele Bellino, MD, PhD, Eduardo Bossone, MD, PhD, Aneta Aleksova, MD, Davide Di Vece, MD, PhD, Matteo Cameli, MD, PhD, Mario Cristiano, MD, Guido Parodi, MD, PhD, Giuseppe Musumeci, MD, PhD, Serena Migliarino, MD, Fernando Scudiero, MD, Pasquale Innelli, MD, Olga Vriz, MD, Fausto Rigo, MD, Martina Pucci, MD, Tiziana Attisano, MD, Marco Di Maio, MD, PhD, Concetta Zito, MD, PhD, Giuseppina Novo, MD, Gennaro Galasso, MD, PhD, Gianfranco Sinagra, MD, PhD, Carmine Vecchione, MD, Rodolfo Citro, MD, PhD   +22 more
doaj   +1 more source

Arrhythmogenic cardiomyopathy: electrical instability and intercalated disc abnormalities in transgenic mice [PDF]

, 2013
Aims: Mutations in genes encoding desmosomal proteins have been implicated in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC). However, the consequences of these mutations in early disease stages are unknown.
Rizzo, Stefania
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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

Takotsubo Cardiomyopathy: An Exploration of the Intersection Between Stress, Coronary Dysfunction, and Cardiac Outcomes

Reviews in Cardiovascular Medicine
Takotsubo syndrome (TTS) is an acute, reversible form of left ventricular dysfunction, typically triggered by emotional or physical stress. The hallmark feature is reversible regional wall motion abnormality extending beyond a single coronary ...
Davide Rossi, Silvio Saraullo, Roberta Magnano, Laura Pezzi, Alberto D'Alleva, Fabrizio Ricci, Claudio Scollo, Mario Di Marino, Eugenio Genovesi, Piergiusto Vitulli, Daniele Forlani, Giulia Renda, Sabina Gallina, Massimo Di Marco   +13 more
doaj   +1 more source

Takotsubo (Stress) Cardiomyopathy

Journal of Education and Teaching in Emergency Medicine, 2017
History of present illness: A 59-year-old male presented to the emergency department in shock from pneumonia. The patient was initially afebrile, pulse rate 120 beats per minute, blood pressure 117/69 mmHg, respiratory rate 42 breaths per minute, pulse ...
Justin J Hourmozdi, Julian P Suszanski, Jacqueline M Pflaum   +2 more
doaj   +1 more source

Refining a preclinical model of viral myocarditis in accordance with biotech standards

Animal Models and Experimental Medicine, EarlyView.
This study aimed to refine a murine model of Coxsackievirus B3‐induced myocarditis by integrating dietary and imaging innovations to improve animal welfare, data quality, and clinical applicability. The refined diet significantly reduced animal health burden, reduced weight loss, and stabilized blood glucose during development of cardiac inflammation ...
Jonas Stewen, Julia Riedesel, Juliane Stein, Brandon H. Greene, Svenja Rohde, Sonja Suess, Bjoern Keiner, Priya Panjwani, Padmapriya Ponnuswamy, Juan E. Camacho Londoño   +9 more
wiley   +1 more source

Diagnosis and treatment strategies for cardiogenic shock in Takotsubo syndrome with a temporary left ventricular assist device—A single-center study

JHLT Open
Background: Takotsubo syndrome (TTS) is a reversible form of acute heart failure characterized by apical ballooning, which may lead to cardiogenic shock (CS).
Anna Huang, Johanna K.R. von Mackensen, Vanessa I.T. Zwaans, Carla L. Schuering, Jasper Iske, Leonard Pitts, Julius Kaemmel, Gaik Nersesian, Cheng-Ying Chiu, Christoph T. Starck, Joerg Kempfert, Stephan Jacobs, Volkmar Falk, Evgenij V. Potapov, Leonhard Wert   +14 more
doaj   +1 more source

The clinical characteristics of families with hypertrophic cardiomyopathy associated with mutations of cardiac myosin binding protein C [PDF]

, 2010
Introduction: Mutations in cardiac myosin binding protein-C (MYBPC3), the most common genetic cause of hypertrophic cardiomyopathy (HCM), have been reported to cause a comparatively benign and late-onset form of the disease with incomplete penetrance ...
Page, S.P.
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