Results 11 to 20 of about 79,516 (257)

Improving comprehension of genetic counseling for hereditary breast and ovarian cancer clients with a visual tool. [PDF]

PLoS ONE, 2018
OBJECTIVE:Genetic counseling and testing can be offered to individuals who are at high risk of carrying a breast cancer (BRCA) gene mutation. However, the content of genetic counseling could be difficult to understand due to complex medical information ...
Muy-Kheng M Tea, Yen Y Tan, Christine Staudigl, Birgit Eibl, Romana Renz, Ella Asseryanis, Andreas Berger, Georg Pfeiler, Christian F Singer   +8 more
doaj   +1 more source

Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome

Clinical Case Reports, 2018
Key Clinical Message Sjögren–Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome.
Maryam Taghdiri, Atie Kashef, Majid Fardaei, Mohammad Miryounesi   +3 more
doaj   +1 more source

Evidence‐based consensus guidelines for ALS genetic testing and counseling

Annals of Clinical and Translational Neurology, 2023
Objective Advances in amyotrophic lateral sclerosis (ALS) gene discovery, ongoing gene therapy trials, and patient demand have driven increased use of ALS genetic testing. Despite this progress, the offer of genetic testing to persons with ALS is not yet
Jennifer Roggenbuck, Breda H. F. Eubank, Joshua Wright, Matthew B. Harms, Stephen J. Kolb, the ALS Genetic Testing and Counseling Guidelines Expert Panel   +5 more
doaj   +1 more source

Genetic counseling

Jornal de Pediatria, 2008
The objective of this review of genetic counseling (GC) is to describe the current concepts and philosophical and ethical principles accepted by the great majority of countries and recommended by the World Health Organization, the stages of the process, its results and the psychological impact that a genetic disease has on a family.The concepts ...
openaire   +3 more sources

Gender Differences in Caring for Children with Genetic or Rare Diseases: A Mixed-Methods Study

Children, 2022
As a factor in parenting stress, gender differences in caring for children with genetic or rare diseases warrant research attention; therefore, this study explored gender differences in parenting stress, health outcomes, and illness perceptions among ...
Shao-Yin Chu, Chin-Chen Wen, Chun-Ying Weng   +2 more
doaj   +1 more source

Juvenile Huntington’s disease

Анналы клинической и экспериментальной неврологии, 2017
Juvenile Huntingtons disease (JHD) manifests in 1st2nddecades of life and accounts for 29% of all cases ofHuntingtons disease; its pathogenic mechanisms are related togenetic anticipation and imprinting.
G. E. Rudenskaya, D. A. Savvin, V. P. Fedotov, S. A. Kurbatov, A. V. Polyakov, N. M. Galeeva   +5 more
doaj   +1 more source

Stressful Events Reported by Childhood Cancer Survivors and Community Controls From the St. Jude Lifetime (SJLIFE) Cohort: A Mixed Method Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Characterizing stressful events reported by childhood cancer survivors experienced throughout the lifespan may help improve trauma‐informed care relevant to the survivor experience. Methods Participants included 2552 survivors (54% female; 34 years of age) and 469 community controls (62% female; 33 years of age) from the St.
Megan E. Ware, Colter K. Clayton, Fang Wang, Sedigheh Mirzaei, Kyla Shelton, Tara M. Brinkman, Victoria Willard, Katianne M. Howard Sharp, Kevin Krull, Lindsay F. Schwartz, Melissa M. Hudson, Gregory T. Armstrong, Kirsten K. Ness, Rachel T. Webster   +13 more
wiley   +1 more source

Aconselhamento genético Genetic counseling

Jornal de Pediatria, 2008
OBJETIVO: Esta revisão sobre aconselhamento genético (AG) teve o objetivo de mostrar os conceitos atuais e os princípios filosóficos e éticos aceitos na grande maioria dos países e recomendados pela Organização Mundial da Saúde, as fases do processo ...
João Monteiro de Pina-Neto
doaj   +1 more source

Unheard and Under‐Supported: Health‐Related Quality of Life in Children, Adolescents, and Young Adults With Sickle Cell Disease

Pediatric Blood &Cancer, EarlyView.
Abstract Background Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy affecting millions of individuals worldwide. The clinical expression and psychosocial burden of SCD vary widely across geographical, cultural, and healthcare system contexts, underscoring the need for setting‐specific approaches to assessment.
Desiré Fantasia, Giulia Reggiani, Elizabeth J. Maran, Maria Elisa Delle Fave, Ilaria Baido, Anna Chiara Frigo, Maria Paola Boaro, Raffaella Colombatti   +7 more
wiley   +1 more source

Barriers to the implementation of epilepsy genetic testing and counseling guidelines

Epilepsia Open
Objective In 2022, the National Society of Genetic Counselors (NSGC) published a practice guideline for genetic testing and counseling for unexplained epilepsy.
Sophie Melly, Amanda L. Bergner, Tristan Sands, Natalie Lippa, Maureen Mulhern   +4 more
doaj   +1 more source