Results 61 to 70 of about 6,319,608 (297)

Novel Method for Predicting Lp(a) From Genomic Testing Identifies ASCVD Risk Across a Diverse Cohort

JACC: Basic to Translational Science
Summary: Lipoprotein(a) (Lp[a]) is a genetic and often unmeasured contributor to atherosclerotic cardiovascular disease (ASCVD) risk. In this study, Lp(a) was estimated from exome data by quantifying Kringle IV subtype 2 repeats alongside a single ...
Natalie Telis, PhD, Hang Dai, PhD, Ashley Waring, MD, David Kann, MD, Dana Wyman, PhD, Simon White, MSc, Basil Khuder, MS, Francisco Tanudjaja, BS, Alexandre Bolze, PhD, Matthew E. Levy, PhD, Cassie Hajek, MD, Lisa M. McEwen, PhD, Douglas Stoller, MD, Christopher N. Chapman, MD, C. Anwar A. Chahal, MD, PhD, Daniel P. Judge, MD, Douglas A. Olson, MD, Joseph J. Grzymski, PhD, Nicole L. Washington, PhD, William Lee, PhD, Elizabeth T. Cirulli, PhD, Shishi Luo, PhD, Kelly Schiabor Barrett, PhD   +22 more
doaj   +1 more source

New variants of ABCA12 in harlequin ichthyosis baby

Journal of Pediatric and Neonatal Individualized Medicine, 2018
Harlequin ichthyosis (HI) is an extremely rare genetic skin disorder and the most severe form of a group of disorders, which includes lamellar ichthyosis and congenital ichthyosiform erythroderma.
Sara Peixoto, Joana Amaral, Dolores Faria, Cristina Resende, Gabriela Mimoso, Lina Ramos   +5 more
doaj   +1 more source

Beyond the Document: A Single‐Center Qualitative Study of Survivorship Care Plan Barriers and Opportunities Across Pediatric Oncology Stakeholders

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Survivorship care plans (SCPs) summarize cancer treatment and guide risk‐based follow‐up for cancer survivors, yet remain difficult to create, share, and use. Stakeholder perspectives are needed to inform usable approaches.
Molly S. Talman, Emma Fleisher, Megan E. Salwei, Debra Friedman, Laurie Novak   +4 more
wiley   +1 more source

Exploring the Genetic Architecture of Myocarditis and Inherited Cardiomyopathies

Cardiogenetics
Myocarditis is a complex inflammatory myocardial disease. Although traditionally regarded as exclusively immune-mediated, recent evidence highlights the significant role of underlying genetics on susceptibility, phenotypic variability, and long-term ...
Sukruth Pradeep Kundur, Ali Malik, Rasi Mizori, Sanjay Sivalokanathan   +3 more
doaj   +1 more source

Therapeutic Apheresis in Nigeria: A Multi‐Center Summary of Abstracts From the Inaugural Nigerian Society for Apheresis Scientific Meeting

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Therapeutic apheresis (TA) is an established treatment modality for hematologic, neurologic, and immunologic disorders, yet access remains severely limited in sub‐Saharan Africa. Donor apheresis, including platelet apheresis collection from healthy donors, represents an important complementary modality supporting blood product ...
Nosa Bazuaye, Chimezie Okwuonu, Evelyn Idam, Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Zinnah Aloziem, Blossom Amamchukwu, Patience Elimia, Mkpoikanabasi Obot‐Obot, Henry Mbakwe, Praises Maduagwuna, Olatunji Akinrodoye, Chiamaka Anyanwu, Benjamin Anyanwu, Adedamola Akinsiku, Oluwatoyin A. Akinsiku, Muzamil O. Hassan, Fatiu A. Arogundade, Olalekan E. Ojo, Homayemem Weli, Jesupelumi Adenihun, Aderemi Adelaja, Ebun Bamgboye, Olalekan Olatise, Ade E. Faponle, Ayoola Odeyemi, Michael Muoka, Stephen Asaolu, Qudrat Busari, Blessing Dawudu, Michael Naiyeju, Rasheed A. Balogun   +33 more
wiley   +1 more source

Pediatric Mediastinal Gray Zone Lymphoma With Germline TET2 Heterozygous Variant

Pediatric Blood &Cancer, EarlyView.
Matthew R. Schuelke, Julia Wang, Haley Newman, Evelyn Kurpiewski, Anne Reilly, Susan R. Rheingold, Gerald Wertheim, Moe Takeda, Daniel J. Zheng, Kaitlin Devine   +9 more
wiley   +1 more source

Experience With Performing Rheocarna Therapy via the Single‐Needle Method for Treatment of Chronic Limb‐Threatening Ischemia

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction This study investigated the safety and efficacy of single‐needle Rheocarna therapy for chronic limb‐threatening ischemia (CLTI) with wounds. Methods Six patients with CLTI involving ulcers unresponsive to revascularization underwent single‐needle Rheocarna treatment.
Yasutaka Yamauchi, Rie Tanaka, Reona Kawahira, Shingo Nabeta, Kouhei Naoi, Kazuhito Kitajima, Akira Wada, Tomonari Takagi, Norihiko Ohura, Akira Miyamoto   +9 more
wiley   +1 more source

Development of clinical genetics in Asia

, 2019
This Special Issue on Clinical Genetics in Asia highlights a collection of articles showing the growth, development, and current status of clinical genetics in Asia.
Lai, PS, Willis, B, Brian Chung, Poh‐San Lai, Chung, B, Brooke Willis   +5 more
core   +1 more source

Clinical Genetics In Developing Countries: The Case Of Brazil.

, 2015
There are many impediments to the progress of clinical and medical genetics in developing countries. Higher priorities concerning basic health care usually take precedence over genetic diseases and birth defects among medical professionals and public ...
Brunoni, Décio, Acosta, Angelina Xavier, Ferraz, Victor E Faria, Marques-de-Faria, Antonia Paula   +3 more
core   +2 more sources

Commentary: The mutations and clinical variability in maternally inherited diabetes and deafness: an analysis of 161 patients

Frontiers in Endocrinology, 2023
Ivo P. van de Peppel, Ivo P. van de Peppel, Serwet Demirdas, Behiye Özcan   +3 more
doaj   +1 more source