Results 61 to 70 of about 113,709 (303)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Echocardiogram dataset.

, 2016
Echocardiogram dataset. A-C. Visualization of imputation of complete cases with simulated missing values for A. Probabilistic PCA (PPCA) imputation, B. Mean imputation, C. KNN imputation. In all three, blue represent complete cases.
Nikolaj Bak (3207450), Lars K. Hansen (2720326)   +1 more
core   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Echocardiogram parameters 15 days after I/R.

, 2015
SF: Shortening fraction; EF: Ejection fraction; LV: Left ventricle; AW: Anterior wall; CO: Cardiac output. Echocardiogram parameters were calculated according to Eqs 1–3 (see text). Data expressed as mean ± SEM.*P < 0.05 with respect to the corresponding
Paulo André Silva (811091), Adalberto Vieyra (310831), Rogério Cirino da Silva (811086), Emiliano Medei (591240), Mayra Trentin-Sonoda (811085), Humberto Muzi-Filho (586299), Marcela Sorelli Carneiro-Ramos (811093), Fernanda Freire Tovar-Moll (811092), Gustavo Monnerat Cahli (811089), Fernanda Vieira Kmit (811087), Guilherme Visconde Brasil (811090), Mariana Vieira Abrahão (811088)   +11 more
core   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Study on Carbamazepine induced electrocardiographic, blood pressure and echocardiographic changes in the dog [PDF]

Āsīb/shināsī-i Darmāngāhī-i Dāmpizishkī, 2019
Carbamazepine is used as an anticonvulsant drug in the treatment of simple slight convulsion and generalized tonic-clonic, trigeminal neuralgia, and also as preventive agent in manic depressive.
R Kaffash Elahi, daryoush mohajeri, alireza nourazar, Yasin Bagheri   +3 more
doaj  

Processing of CW Doppler images to extract velocity profile [PDF]

, 2012
The present work aims to find a good way to automatically trace the velocity profile in vessels shown in continuous wave Doppler spectrograms, replacing the more traditional manual tracing, easy to perform but rich in drawbacks.
Dainese, Clara
core  

Understanding by general providers of the echocardiogram report

, 2019
Echocardiograms are the second most frequently utilized cardiac test after electrocardiograms and are most commonly ordered by noncardiology providers. Echocardiogram reports are designed to communicate a comprehensive interpretation of cardiac function;
Tiwana, Jasleen, Virani, Salim S., Aguilar, David, Hamzeh, Ihab, Blaustein, Alvin, Fernandes, Robin, Trang, Amanda, Kampangkaew, June, Shah, Tina, Misra, Arunima   +9 more
core   +1 more source