Results 81 to 90 of about 175,789 (362)

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

Descending aorta to right atrial fistula: Transcatheter embolization of a very rare anomaly with coils

Clinical Case Reports
Key Clinical Message Descending aorta to right atrial (RA) fistula is a rare and distinct clinical entity mimicking patent ductus arteriosus (PDA) and it may lead to rapid development of pulmonary vascular disease.
Stefanos Despotopoulos, Sotiria Apostolopoulou, George Vagenakis, Meletios Kanakis, George Samanidis, Panagiotis Zachos, Anastasios Chatziantoniou, John Papagiannis, Spyridon Rammos, Alexandros Tsoutsinos   +9 more
doaj   +1 more source

Pulmonary veins stenosis relief after an inappropriate radiofrequency catheter ablation of atrial fibrillation in a young non-competitive athlete

Monaldi Archives for Chest Disease, 2018
One of the major complications of radiofrequency catheter ablation (RFCA) for atrial fibrillation (AF) is pulmonary vein stenosis (PVS). The natural history of PVS, especially when it involves more than one vein, leads to severe and irreversible ...
Berardo Sarubbi, Gaetano Rea, Giuseppe Santoro, Enrico Melillo, Giancarlo Scognamiglio, Maria Giovannna Russo   +5 more
doaj   +1 more source

Tuberculosis in prisons in sub-Saharan Africa--a potential time bomb. [PDF]

, 2011
No ...
Bates, Matthew, Kapata, Nathan, Mwaba, Peter, O'Grady, Justin, Zumla, Alimuddin   +4 more
core   +1 more source

Adult Congenital Heart Disease with Pregnancy [PDF]

Korean Circulation Journal, 2018
The number of women with congenital heart disease (CHD) at risk of pregnancy is growing because over 90% of them are grown-up into adulthood. The outcome of pregnancy and delivery is favorable in most of them provided that functional class and systemic ventricular function are good.
openaire   +3 more sources

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

Infective Endocarditis in Adults With Congenital Heart Disease

JACC: Case Reports, 2023
A challenging case of infective endocarditis in a young woman with repaired tetralogy of Fallot and a diagnosis of ankylosing spondylitis is described.
Anna Selvaggia Roma, MD, Flavia Fusco, MD, Davide D’Arienzo, MD, Maria Luisa De Rimini, MD, Giancarlo Scognamiglio, MD, PhD, Berardo Sarubbi, MD, PhD   +5 more
doaj  

The triple challenges associated with age-related comorbidities in Down syndrome [PDF]

, 2014
Background Major increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring specialist care, which in turn necessitates greater understanding of the nature, timing and ...
Bittles, A.H., Dye, D.E., Glasson, E.J.
core   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Limited Accuracy of Administrative Data for the Identification and Classification of Adult Congenital Heart Disease

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2018
BackgroundAdministrative data sets utilize billing codes for research and quality assessment. Previous data suggest that such codes can accurately identify adults with congenital heart disease (CHD) in the cardiology clinic, but their use has yet to be ...
Abigail Khan, Katrina Ramsey, Cody Ballard, Emily Armstrong, Luke J Burchill, Victor Menashe, George Pantely, Craig S Broberg   +7 more
doaj   +1 more source