Results 61 to 70 of about 3,117,325 (331)

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

An ethical framework for genetic counseling in the genomic era

Journal of Genetic Counseling, 2019
The field of genetic counseling has grown and diversified since the profession emerged in the early 1970s. In the same period, genomic testing has become more complex, profitable, and widespread.
L. Jamal, Will Schupmann, B. Berkman
semanticscholar   +1 more source

Cerebrospinal Fluid Liquid Biopsy Enables Targeted Therapy Without Tissue Diagnosis in Pediatric Low‐Grade Gliomas With BRAF V600E Mutation

Pediatric Blood &Cancer, EarlyView.
ABSTRACT We present two pediatric cases of pediatric low‐grade gliomas (PLGG) with BRAF V600E mutations diagnosed and monitored using cerebrospinal fluid (CSF) liquid biopsy analyzed via digital droplet PCR (ddPCR), without tissue biopsy. Both patients were treated with dabrafenib and trametinib and monitored through clinical assessments, magnetic ...
Hannah Sultan, Damien Faury, Alexander G. Weil, Harrison J. Westwick, Nada Jabado, Sébastien Perreault   +5 more
wiley   +1 more source

Painting a portrait: Analysis of national health survey data for cancer genetic counseling

Cancer Medicine, 2019
Background Despite a growing body of literature describing the geographic and sociodemographic distribution of cancer genetic testing, work focused on these domains in cancer genetic counseling is limited.
Monica H. Stamp, Ora K. Gordon, Christopher P. Childers, Kimberly K. Childers   +3 more
doaj   +1 more source

Changes in Body Composition in Children and Young People Undergoing Treatment for Acute Lymphoblastic Leukemia: A Systematic Review and Meta‐Analysis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Ongoing evidence indicates increased risk of sarcopenic obesity among children and young people (CYP) with acute lymphoblastic leukemia (ALL), often beginning early in treatment, persisting into survivorship. This review evaluates current literature on body composition in CYP with ALL during and after treatment.
Lina A. Zahed, Raquel Revuelta Iniesta, Mary Fewtrell, Julie Lanigan, Breeana Gardiner, Graeme O'Connor   +5 more
wiley   +1 more source

Genetic Counseling and the Central Tenets of Practice.

Cold Spring Harbor Perspectives in Medicine, 2019
Genetic counseling is a profession growing and evolving at an extraordinary rate. This growth is driven by an explosion in what we know, as a result of progress in science, technology, and bioinformatics, and an explosion in what we do not know, as we ...
B. Biesecker
semanticscholar   +1 more source

Predicting Chronicity in Children and Adolescents With Newly Diagnosed Immune Thrombocytopenia at the Timepoint of Diagnosis Using Machine Learning‐Based Approaches

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objectives To identify predictors of chronic ITP (cITP) and to develop a model based on several machine learning (ML) methods to estimate the individual risk of chronicity at the timepoint of diagnosis. Methods We analyzed a longitudinal cohort of 944 children enrolled in the Intercontinental Cooperative immune thrombocytopenia (ITP) Study ...
Severin Kasser, Alice Bizeul, Meera Chitlur, Hugo Donato, Jelena Roganovic, Julia E. Vogt, Thomas Kühne   +6 more
wiley   +1 more source

Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack, A. Carolina Tufino, Mohd Azrin Jamalruddin, Sreya Dey, Yinghong Pan, Elina Mukherjee, Jessica D. Daley, Julia Meade, Mahmoud Aarabi, Lisa Maurer, James Cooper, Kara A. Bernstein, Kelly M. Bailey   +12 more
wiley   +1 more source

A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review

Frontiers in Pediatrics
Recently, mutations have been identified in six genes (PIGA, PIGY, PIGO, PGAP2, PIGW and PGAP3) encoding proteins in the Glycosyl phosphatidylinositol(GPI)-anchor-synthesis pathway in individuals with hyperphosphatasia with impaired intellectual ...
Yijun Pan, Bin Ren, Lijuan Chen, Qiang Li   +3 more
doaj   +1 more source

Cancer genetics education in a low- to middle-income country: evaluation of an interactive workshop for clinicians in Kenya.

PLoS ONE, 2015
BackgroundClinical genetic testing is becoming an integral part of medical care for inherited disorders. While genetic testing and counseling are readily available in high-income countries, in low- and middle-income countries like Kenya genetic testing ...
Jessica A Hill, Su Yeon Lee, Lucy Njambi, Timothy W Corson, Helen Dimaras   +4 more
doaj   +1 more source