Results 91 to 100 of about 580,532 (393)

Comprehensive genetic analysis of poorly differentiated gastric cancer in young females

Annals of Gastroenterological Surgery, EarlyView.
Although the involvement of female sex hormones in the development of poorly differentiated gastric cancer in young females is controversial, our detailed analysis using RNA‐seq suggested that the female sex hormone, β‐estradiol plays a role in the development of poorly differentiated gastric cancer in young females. Abstract Aim The reasons behind the
Nobuhiro Nakazawa, Takehiko Yokobori, Yohei Morishita, Akinobu Echigo, Reika Kawabata‐Iwakawa, Akiharu Kimura, Akihiko Sano, Makoto Sakai, Ken Shirabe, Hiroshi Saeki   +9 more
wiley   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Association Between Midwall Late Gadolinium Enhancement and Sudden Cardiac Death in Patients With Dilated Cardiomyopathy and Mild and Moderate Left Ventricular Systolic Dysfunction

Circulation, 2017
Background: Current guidelines only recommend the use of an implantable cardioverter defibrillator in patients with dilated cardiomyopathy for the primary prevention of sudden cardiac death (SCD) in those with a left ventricular ejection fraction (LVEF ...
B. Halliday, A. Gulati, Aamir Ali, K. Guha, S. Newsome, Monika Arzanauskaite, V. Vassiliou, A. Lota, C. Izgi, U. Tayal, Z. Khalique, Colin Stirrat, D. Auger, Nilesh Pareek, Tevfik F. Ismail, Stuart D Rosen, A. Vazir, F. Alpendurada, J. Gregson, Michael P. Frenneaux, Martin R. Cowie, J. G. Cleland, Stuart A. Cook, D. Pennell, Sanjay K. Prasad   +24 more
semanticscholar   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Echocardiographic profile of patients with cardiomyopathy

Journal of Lumbini Medical College, 2018
Introduction: Cardiomyopathies represent a heterogeneous group of diseases that often lead to progressive heart failure with significant morbidity and mortality. Exact epidemiological data on cardiomyopathy in Nepal are lacking.
Jeevan Khanal, Tilchan Pandey, Krishna Godar   +2 more
doaj   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Taurine deficiency and dilated cardiomyopathy in golden retrievers fed commercial diets

PLoS ONE, 2018
Introduction Golden retrievers are over-represented in cases of taurine-deficient dilated cardiomyopathy and recently a surge in cases has prompted further investigation.
J. Kaplan, J. Stern, A. Fascetti, J. Larsen, Hannah Skolnik, Gordon D. Peddle, R. Kienle, Andrew Waxman, Michael F Cocchiaro, C. Gunther-Harrington, Tyler Klose, Kendra LaFauci, B. Lefbom, Maggie Machen Lamy, R. Malakoff, Satoko Nishimura, M. Oldach, S. Rosenthal, C. Stauthammer, L. O'sullivan, L. Visser, Regan L. Williams, E. Ontiveros   +22 more
semanticscholar   +1 more source

Dilated cardiomyopathy in thyrotoxicosis [PDF]

Heart, 1999
Heart failure is a rare manifestation of thyrotoxicosis in patients without heart disease.1-3 We report two cases of thyrotoxicosis and no previous heart disease presenting with severe heart failure. Successful treatment of the thyrotoxicosis resulted in progressive improvement of cardiac function.
S Goland, S Shimoni, O Kracoff
openaire   +3 more sources

Noradrenergic and cholinergic innervation of the normal human heart and changes associated with cardiomyopathy

The Anatomical Record, EarlyView.
Abstract Autonomic nerves are crucial in cardiac function and pathology. However, data on the distribution of cholinergic and noradrenergic nerves in normal and pathologic human hearts is lacking. Nonfailing donor hearts were pressure‐perfusion fixed, imaged, and dissected. Left ventricular cardiomyopathy samples were also obtained.
Peter Hanna, Donald B. Hoover, Logan G. Kirkland, Elizabeth H. Smith, Megan D. Poston, Stanley G. Peirce, Chloe G. Garbe, Steven Cha, Shumpei Mori, Jaclyn A. Brennan, John Andrew Armour, Eric Rytkin, Igor R. Efimov, Olujimi A. Ajijola, Jeffrey L. Ardell, Kalyanam Shivkumar   +15 more
wiley   +1 more source

Molecular studies in familial dilated cardiomyopathy – A pilot study

International Journal of Cardiology: Heart & Vasculature, 2022
Aim: To study genetic variants in patients of familial dilated cardiomyopathy. Methodology: Patients with reduced ejection fraction of less than 45% and dilated left ventricle are considered to have dilated cardiomyopathy.
Vyom Mori, J.P.S. Sawhney, I.C. Verma, Ashwani Mehta, Renu Saxena, Rajiv Passey, Arun Mohanty, Bhuwanesh Kandpal, B.S. Vivek, Manish Sharma, Ashish Kumar Jain, Dipak Katare   +11 more
doaj