Results 11 to 20 of about 83,409 (265)
Patient Perception of Negative Noninvasive Prenatal Testing Results
American Journal of Perinatology Reports, 2016 Objective To determine patient perception of residual risk after receiving a negative non-invasive prenatal testing result. Introduction Recent technological advances have yielded a new method of prenatal screening, non-invasive prenatal ...
A. Theresa Wittman +5 more
doaj +1 more source
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 +8 more
doaj +1 more source
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 +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 +5 more
doaj +1 more source
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 +5 more
doaj +1 more source
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 +2 more
doaj +1 more source
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 +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen +23 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
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Children with sickle cell disease (SCD) face multiple acute and chronic medical complications that may impact their quality of life as reported by patients themselves. Health‐related social needs (HRSNs), such as food and housing insecurity, are common in people with SCD, but the association between HRSNs and patient‐reported ...
Sarah J. Marks +5 more
wiley +1 more source