Results 171 to 180 of about 205,036 (308)

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

Impact of pulmonary hypertension and right ventricular function on outcomes of isolated tricuspid valve surgery. [PDF]

JTCVS Open
Altarabsheh SE, Crestanello JA, Saran N, Daly RC, Dearani JA, Greason KL, Stulak JM, Todd A, Rowse PG, Arghami A, Bagameri G, Villavicencio MA, Schaff HV, Anand V.   +13 more
europepmc   +1 more source

Assessment of Right Ventricular Function-a State of the Art. [PDF]

Curr Heart Fail Rep, 2023
Hameed A, Condliffe R, Swift AJ, Alabed S, Kiely DG, Charalampopoulos A.   +5 more
europepmc   +1 more source

RAPID RIGHT VENTRICULAR VOLUME LOADING COMPROMISES ITʼS FUNCTION IN ISCHEMIC MYOCARDIUM

, 2000
Mohammed A. Kashem, William P. Santamore, Sarmina Hassan, R Beretta   +3 more
openalex   +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

Right ventricular function and anemia in heart failure with preserved ejection fraction. [PDF]

Front Cardiovasc Med
Wang J, Jiang J, Li X, Tan X, Zhou Y, Luo Z, Wang X, Zhao X, Liu Y, Wang M, Zhang C.   +10 more
europepmc   +1 more source

Two-dimensional echocardiographic assessment of right ventricular function as a predictor of outcome in hypoplastic left heart syndrome

, 2000
Karen Altmann, Beth F. Printz, David E Solowiejczyk, Welton M. Gersony, Jan M. Quaegebeur, Howard D. Apfel   +5 more
openalex   +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

Deterioration of left ventricular function following atrio-ventricular node ablation and right ventricular apical pacing in patients with permanent atrial fibrillation [PDF]

, 2002
Tamás Szili‐Törok
openalex   +1 more source

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The TBX4 gene has a critical importance in the development of the lower limbs and lungs. Pathogenic variants in this gene are associated with a variable spectrum of skeletal anomalies of the lower limb and pneumological manifestations, with dominant or recessive inheritance.
Simone Carbonera, Laura Scelsi, Alessandra Greco, Sandra Schirinzi, Annalisa Turco, Antonella Casella, Marta Carboni, Gaia Visani, Mauro Acquaro, Stefano Ghio, Silvia Kalantari, Enza Maria Valente, Fabio Sirchia   +12 more
wiley   +1 more source