Results 271 to 280 of about 528,840 (339)

Usefulness of somatosensory-evoked potentials for monitoring cerebral perfusion during transcarotid transcatheter aortic valve replacement: a case report. [PDF]

Gen Thorac Cardiovasc Surg Cases
Okamoto K, Motomatsu Y, Kano M, Meno K, Ura Y, Mori T, Otani K, Inoue S, Sonoda H, Shiose A.   +9 more
europepmc   +1 more source

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

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

Diabetes Mellitus Is Associated with Distinctive Aortic Wall Degeneration During Acute Type A Aortic Dissection. [PDF]

J Clin Med
Heikurinen S, Kholova I, Paavonen T, Mennander A.   +3 more
europepmc   +1 more source

The effect of blood vessel pulsations on lymph pressure in large lymphatics. [PDF]

, 1953
STARZL, TE, WEBB, RC
core  

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

A comparative analysis of CT angiography and echocardiography in the evaluation of chest findings in patients with interrupted aortic arch. [PDF]

Front Radiol
Moldakhanova Z, Rakhimzhanova R, Dautov T, Bastarbekova L, Kaliyev B, Almussina A, Zhankorazova A, Zholshybek N.   +7 more
europepmc   +1 more source

ANEURYSMS OF THE THORACIC AORTA. [PDF]

CharlesJ.H. Ray
openalex   +1 more source

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

In vivo aortic elasticity measurement using electrocardiogram-gated computed tomography: validation with ex vivo loading test. [PDF]

Interdiscip Cardiovasc Thorac Surg
Yokota J, Shirakawa T, Shimamura K, Shijo T, Maeda K, Kawamura T, Yamashita K, Ide T, Matsumoto R, Sakaniwa R, Yoshioka D, Miyagawa S.   +11 more
europepmc   +1 more source