Results 71 to 80 of about 3,120,324 (401)

Examining the impact of genetic testing for type 2 diabetes on health behaviors: study protocol for a randomized controlled trial

Trials, 2012
Background We describe the study design, procedures, and development of the risk counseling protocol used in a randomized controlled trial to evaluate the impact of genetic testing for diabetes mellitus (DM) on psychological, health behavior, and ...
Voils Corrine I, Coffman Cynthia J, Edelman David, Maciejewski Matthew L, Grubber Janet M, Sadeghpour Azita, Cho Alex, McKenzie Jamiyla, Blanpain Francoise, Scheuner Maren, Sandelowski Margarete, Gallagher M, Ginsburg Geoffrey S, Yancy William S   +13 more
doaj   +1 more source

MANAGING VARIANT DISCREPANCY IN HEREDITARY CANCER: CLINICAL PRACTICE, BARRIERS, AND DESIRED RESOURCES [PDF]

, 2017
Variants are changes in the DNA whose phenotypic effects may or may not be definitively understood. Because variant interpretation is a complex process, sources sometimes disagree on the classification of a variant, which is called a variant discrepancy.
Zirkelbach, Ellen
core   +1 more source

Genetic counseling of patients with ovarian carcinoma:acceptance, timing, and psychological wellbeing [PDF]

, 2019
The new Dutch guidelines on hereditary and familial ovarian carcinoma recommend genetic testing of all patients with epithelial ovarian cancer (EOC). With this study, we aimed to obtain insight into (1) the acceptance and timing of the offer of genetic ...
Aalfs, C. M., Buist, M. R., de Hullu, J. A., Kets, C. M., Legdeur, M. A., Lok, C. A. R., Mourits, M. J. E., Oosterwijk, J. C., Smets, E. M. A., Van de Beek, Pieter, van der Kolk, L. E.   +10 more
core   +1 more source

The carboxylate “gripper” of the substrate is critical for C‐4 stereo‐inversion by UDP‐glucuronic acid 4‐epimerase

FEBS Letters, EarlyView.
UDP‐glucuronic acid 4‐epimerase (UGAepi) catalyzes NAD+‐dependent interconversion of UDP‐glucuronic acid (UDP‐GlcA) and UDP‐galacturonic acid (UDP‐GalA) via C4‐oxidation, 4‐keto‐intermediate rotation, and C4‐reduction. Here, Borg et al. examined the role of the substrate's carboxylate group in the enzymic mechanism by analyzing NADH‐dependent reduction
Annika J. E. Borg, Laura De Cnop, Bernd Nidetzky   +2 more
wiley   +1 more source

Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions

Hereditary Cancer in Clinical Practice
Background Lynch syndrome represents the most common hereditary cause of both colorectal and endometrial cancer. It is caused by defects in mismatch repair genes, as well as EPCAM. Universal screening of colon tumors for Lynch syndrome via microsatellite
Alexander T. Petterson, Jennifer Garbarini, Maria J. Baker   +2 more
doaj   +1 more source

Investigation on the willingness of patients with colonic adenomatous polyposis to receive genetic counseling and genetic testing

结直肠肛门外科, 2023
[Background] Family investigation and genetic counseling are crucial for disease monitoring in patients with colonic adenomatous polyposis. However, this work has not been well-executed in China, primarily due to patient’s lack of understanding of its ...
Zhao Ziye, Jiang Yuliang, Wang Zhaoming, Gao Xianhua, Xu Xiaodong, Xing Junjie, Wang Hao, Zhang Wei, Yu Enda   +8 more
doaj   +1 more source

The ethics of genetic counseling : a challenge for medical education [PDF]

, 2009
O aconselhamento genético é uma prática que surgiu nos Estados Unidos na década de 1940 e tem se difundido ao redor do mundo com a crescente popularização da informação genética e a profissionalização da genética na saúde pública.
Diniz, Debora, Guedes, Cristiano
core   +1 more source

B cell mechanobiology in health and disease: emerging techniques and insights into therapeutic responses

FEBS Letters, EarlyView.
B cells sense external mechanical forces and convert them into biochemical signals through mechanotransduction. Understanding how malignant B cells respond to physical stimuli represents a groundbreaking area of research. This review examines the key mechano‐related molecules and pathways in B lymphocytes, highlights the most relevant techniques to ...
Marta Sampietro, Marco Cellani, Cristina Scielzo   +2 more
wiley   +1 more source

The introduction of genetic counseling in Ethiopia: Results of a training workshop and lessons learned.

PLoS ONE, 2021
BackgroundOver the past two decades non-communicable diseases (NCDs) have steadily increased as a cause of worldwide disability and mortality with a concomitant decrease in disease burden from communicable, maternal, neonatal and nutritional conditions ...
Shane C Quinonez, Bridget C O'Connor, Michelle F Jacobs, Atnafu Mekonnen Tekleab, Ayalew Marye, Delayehu Bekele, Beverly M Yashar, Erika Hanson, Abate Yeshidinber, Getahun Wedaje   +9 more
doaj   +1 more source

Genetic counseling globally: Where are we now?

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
The genetic counseling profession is continuing to develop globally, with countries in various stages of development. In some, the profession has been in existence for decades and is increasingly recognized as an important provider of allied health ...
K. Ormond, M. Laurino, K. Barlow-Stewart, Tina-Marié Wessels, S. Macaulay, J. Austin, A. Middleton   +6 more
semanticscholar   +1 more source