Results 41 to 50 of about 194,415 (303)

The normal ranges of cardiovascular parameters measured using the ultrasonic cardiac output monitor [PDF]

, 2017
The ultrasonic cardiac output monitor (USCOM) is a noninvasive transcutaneous continuous wave Doppler method for assessing hemodynamics. There are no published reference ranges for normal values in adults (aged 18– 60 years) for this device.
Cattermole, Giles N, Chan, Cangel P.Y, Chan, Stewart S.W, Graham, Colin A, Ho, Grace Y.L, Lau, Peach W.S, Leung, P.Y Mia, Rainer, Timothy H, Smith, Brendan E   +8 more
core   +2 more sources

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Use of magnetic resonance angiography to select candidates with recently symptomatic carotid stenosis for surgery: systematic review [PDF]

, 2002
Objective To determine if sufficient evidence exists to support the use of magnetic resonance angiography as a means of selecting patients with recently symptomatic high grade carotid stenosis for surgery.
Airey, C.M., Bamford, J.M., Berry, E., Cullingworth, J., Davies, L.M., Gough, M.J., Kelly, S., Meaney, J.F.M., Smith, M.A., Westwood, M.E.   +9 more
core   +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

Age- and Lesion-Related Comorbidity Burden Among US Adults With Congenital Heart Disease: A Population-Based Study. [PDF]

, 2019
Background As patients with congenital heart disease (CHD) are living longer, understanding the comorbidities they develop as they age is increasingly important.
Agarwal, Anushree, Broberg, Craig S, Dudley, R Adams, Foster, Elyse, Harris, Ian S, John, Anitha, Mahadevan, Vaikom S, Marcus, Greg M, Thombley, Robert, Vittinghoff, Eric   +9 more
core   +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

Improved costs and outcomes with conscious sedation vs general anesthesia in TAVR patients: Time to wake up? [PDF]

, 2017
BackgroundTranscatheter aortic valve replacement (TAVR) has become a commonplace procedure for the treatment of aortic stenosis in higher risk surgical patients.
Aksoy, Olcay, Benharash, Peyman, Fernandez, Josue, Johansen, Daniel, Kwon, Murray, Patel, Komal D, Sareh, Sohail, Satou, Nancy, Shemin, Richard J, Suh, William, Toppen, William   +10 more
core   +3 more sources

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Echocardiographic evaluation of velocity ratio, velocity time integral ratio, and pulmonary valve area in dogs with pulmonary valve stenosis. [PDF]

, 2018
BackgroundVelocity ratio, velocity time integral (VTI) ratio, and pulmonary valve area indexed to body surface area (iPVA) are methods of assessment of pulmonary valve stenosis (PS) severity that are less dependent on blood flow. Studies evaluating these
Bélanger, Catherine, Gunther-Harrington, Catherine T, Nishimura, Satoko, Oldach, Maureen S, Stern, Joshua A, Visser, Lance C   +5 more
core   +1 more source

Mathematical modeling of thrombus formation in idealized models of aortic dissection: Initial findings and potential applications [PDF]

, 2016
Aortic dissection is a major aortic catastrophe with a high morbidity and mortality risk caused by the formation of a tear in the aortic wall. The development of a second blood filled region defined as the “false lumen” causes highly disturbed flow ...
Menichini, C, Xu, XY
core   +1 more source