Results 101 to 110 of about 61,574 (301)

Feline Hypertrophic Cardiomyopathy: A Spontaneous Large Animal Model of Human HCM. [PDF]

, 2017
Hypertrophic cardiomyopathy (HCM) is a common disease in pet cats, affecting 10-15% of the pet cat population. The similarity to human HCM, the rapid progression of disease, and the defined and readily determined endpoints of feline HCM make it an ...
Freeman, Lisa M, Huggins, Gordon S, Maron, Martin S, Rush, John E, Stern, Joshua A   +4 more
core   +2 more sources

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

A One Health Approach to Hypertrophic Cardiomyopathy. [PDF]

, 2017
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease in humans and results in significant morbidity and mortality. Research over the past 25 years has contributed enormous insight into this inherited disease particularly in the ...
Stern, Joshua A, Ueda, Yu
core   +1 more source

Genomic insights into cardiomyopathies: a comparative cross-species review [PDF]

, 2017
n the global human population, the leading cause of non-communicable death is cardiovascular disease. It is predicted that by 2030, deaths attributable to cardiovascular disease will have risen to over 20 million per year.
Beffagna, Carrier, Cruz, Elliott, Fox, Fox, Gallego-Delgado, Hilfiker-Kleiner, Huang, Inagaki, Kimura, Kucerova, Lacuata, Maekawa, Maron, Meurs, Niss, Qu, Sakamoto, Sandusky, Wang, Zeviani   +21 more
core   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 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

Longitudinal quantile regression in presence of informative drop-out through longitudinal-survival joint modeling

, 2014
We propose a joint model for a time-to-event outcome and a quantile of a continuous response repeatedly measured over time. The quantile and survival processes are associated via shared latent and manifest variables.
Aalen, Andersen, Andrews, Buchinsky, Clements, Cowie, Cox, Daniel-Spiegel, Diggle, Doucet, Eickoff, Farcomeni, Farcomeni, Follmann, Geraci, Geraci, Geraci, Gilks, Gill, Henderson, Heritier, Hsieh, Kahaner, Keren, Koenker, Koenker, Kurland, Levine, Lipsitz, Little, Little, Liu, Liu, Merlo, Molenberghs, Ndrepepa, Nelder, Nelson, Nielsen, Rizopoulos, Rizopoulos, Rizopoulos, Rizopoulos, Sandri, Tsiatis, Verbeke, Verbeke, Viviani, Vonesh, Wei, Wu, Wu, Wu, Wulfsohn, Yi, Yu, Yuan   +56 more
core   +1 more source

Multiple species comparison of cardiac troponin T and dystrophin: unravelling the DNA behind dilated cardiomyopathy [PDF]

, 2017
Animals have frequently been used as models for human disorders and mutations. Following advances in genetic testing and treatment options, and the decreasing cost of these technologies in the clinic, mutations in both companion and commercial animals ...
Braunwald, Cooper, Cooper, Greaser, Innes, Jachymova, Jaquet, Kolb, Kunkel, Laing, Lin, Lu, Mandel, Manole, Maron, Muntoni, Pearlstone, Pearlstone, Pion, Pion, Schatzberg, Tidholm, Valentine, Wexler, Wieczorek   +24 more
core   +2 more sources

Peripartum Cardiomyopathy

Monaldi Archives for Chest Disease, 2016
which left ventricular dysfunction and symptoms of heart failure occur in the peripartum period in previously healthy women. Incidence of PPCM ranges from 1 in 1300 to 1 in 15,000 pregnancies. The etiology of PPCM is unknown, but viral, autoimmune, and idiopathic causes may contribute.
Riccardo Raddino, Ivano Bonadei, Melissa Teli, Federica Chieppa, Giorgio Caretta, Debora Robba, Gregoriana Zanini, Enrico Vizzardi, Livio Dei Cas   +8 more
openaire   +5 more sources

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source