Results 261 to 270 of about 520,580 (355)

Sex-Specific Association of Left Ventricular Function With Mortality in Severe Mitral Regurgitation.

JAMA Netw Open
Kwak S, Sun BJ, Lee S, Park JB, Kim HK, Kim YJ, Song JM, Lee SP, Kim DH.   +8 more
europepmc   +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

Prolonged pain-to-balloon time still impairs midterm left ventricular function following STEMI. [PDF]

BMC Cardiovasc Disord
Felbel D, Fackler S, Michalke R, Paukovitsch M, Gröger M, Keßler M, Nita N, Teumer Y, Schneider L, Imhof A, Buckert D, Rottbauer W, Markovic S.   +12 more
europepmc   +1 more source

The relationship between the atrial systole-ventricular systole interval and left ventricular function

, 1973
Hugh E. Scully, Alexis Bello, E. A. Beierholm, James W. Frederiksen, Myron L. Weisfeldt, Willard M. Daggett   +5 more
openalex   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Assessment of infarct characteristics and left ventricular function on serial CMR in STEMI patients treated with post-PCI sonothrombolysis: post-hoc analysis of two randomized controlled trials. [PDF]

Int J Cardiol Heart Vasc
Kadi SE, Li S, Hovseth C, Hopman LHGA, van de Veerdonk MC, Verouden NJW, Xie F, van Rossum AC, Kamp O, Porter TR.   +9 more
europepmc   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Left ventricular function improvement during angiotensin receptor-neprilysin inhibitor treatment in a cohort of HFrEF/HFmrEF patients. [PDF]

ESC Heart Fail
Appenzeller F, Harm T, Sigle M, Aidery P, Kreisselmeier KP, Baas L, Goldschmied A, Gawaz MP, Müller KAL.   +8 more
europepmc   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Relationship Between Urinary Uranium and Cardiac Geometry and Left Ventricular Function: The Strong Heart Study. [PDF]

JACC Adv
Lieberman-Cribbin W, Martinez-Morata I, Domingo-Relloso A, Umans JG, Cole SA, O'Leary M, Grau-Perez M, Pichler G, Devereux RB, Nigra AE, Kupsco A, Navas-Acien A.   +11 more
europepmc   +1 more source