Results 71 to 80 of about 1,217,828 (289)

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

Genetics, Insurance and Professional Practice: Survey of the Australasian Clinical Genetics Workforce

Frontiers in Public Health, 2018
In Australia and New Zealand, by contrast with much of the developed world, insurance companies can use genetic test results to refuse cover or increase premiums for mutually-rated insurance products, including life, income protection and disability ...
Jane Tiller, Jane Tiller, Louise Keogh, Samantha Wake, Martin Delatycki, Martin Delatycki, Martin Delatycki, Margaret Otlowski, Paul Lacaze   +8 more
doaj   +1 more source

O54: Reimagining genetics service delivery: Genetics providers’ perspectives on the integration of digital tools into clinical practice [PDF]

, 2023
Whiwon Lee, Daena Hirjikaka, Sonya Grewal, Marc Clausen, Stephanie Luca, Angela Shaw, Yvonne Bombard, Robin Z. Hayeems   +7 more
openalex   +1 more source

Patient‐Level Barriers and Facilitators to Inpatient Physical Therapy in Adolescents and Young Adults With a Hematological Malignancy: A Qualitative Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Despite their increased risk for functional impairment resulting from cancer and its treatments, few adolescents and young adults (AYAs) with a hematological malignancy receive the recommended or therapeutic dose of exercise per week during inpatient hospitalizations.
Jennifer A. Kelleher, Jennifer L. Bernstein, Katia M. Crisler, Julia K. Herriott, Kimberly L. Klages, Robin E. Norris, Mariann L. Strenk, Sarah E. Bills, Meghan E. McGrady   +8 more
wiley   +1 more source

Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Genome Medicine, 2017
Clinical genetics laboratories have recently adopted guidelines for the interpretation of sequence variants set by the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP).
Lora J. H. Bean, Madhuri R. Hegde
doaj   +1 more source

Unveiling differential gene co-expression networks and its effects on levodopa-induced dyskinesia

iScience
Summary: Levodopa-induced dyskinesia (LID) refers to involuntary motor movements of chronic use of levodopa in Parkinson’s disease (PD) that negatively impact the overall well-being of people with this disease.
Tatiane Piedade de Souza, Gilderlanio Santana de Araújo, Leandro Magalhães, Giovanna C. Cavalcante, Arthur Ribeiro-dos-Santos, Camille Sena-dos-Santos, Caio Santos Silva, Gracivane Lopes Eufraseo, Alana de Freitas Escudeiro, Giordano Bruno Soares-Souza, Bruno Lopes Santos-Lobato, Ândrea Ribeiro-dos-Santos   +11 more
doaj   +1 more source

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core  

Psychological Safety Among Interprofessional Pediatric Oncology Teams in Germany: A Nationwide Survey

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Psychological safety (PS) is essential for teamwork, communication, and patient safety in complex healthcare environments. In pediatric oncology, interprofessional collaboration occurs under high emotional and organizational demands. Low PS may increase stress, burnout, and adverse events.
Alexandros Rahn, Anna‐Lena Herbach, Christian Bock, Katharina Fleig, Urs Mücke   +4 more
wiley   +1 more source

Characterizing Parental Concerns About Lasting Impacts of Treatment in Children With B‐Acute Lymphoblastic Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background B‐acute lymphoblastic leukemia (B‐ALL) is the most common pediatric cancer, and while most children in high‐resource settings are cured, therapy carries risks for long‐term toxicities. Understanding parents’ concerns about these late effects is essential to guide anticipatory support and inform evolving therapeutic approaches ...
Kellee N. Parker, Sarah W. Alexander, Lisa M. Jacola, Kimberly A. Buff, Kyobin Hwang, Elham Hashemi, Gregory Stoddard, Lindsay A. Jibb   +7 more
wiley   +1 more source

Cardiac manifestations of PRKAG2 mutation. [PDF]

, 2018
BACKGROUND:The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue.
Ardehali, Reza, Banankhah, Pooya, Dota, Anthony, Fishbein, Gregory A   +3 more
core   +1 more source