Results 31 to 40 of about 2,249,426 (311)

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

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

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

Health Beliefs and Behaviors of Women Who Have Received Genetic Counseling For Breast Cancer

, 2007
There are both genetic and behavioral risk factors for breast cancer, but the interaction between these factors is not clear. Little is known about the impact of receiving genetic risk information for breast cancer on behaviors such as diet and physical ...
Young, Mary-Anne, Gaff, Clara, Rees, Gwyneth, Martin, Paul R.   +3 more
core   +1 more source

Who we are, what we do, and how we add value: The role of the genetic counseling ‘philosophy of practice’ statement in a changing time [PDF]

, 2020
As genetics and genomics are integrated into health care and non-genetic health professionals deliver aspects of genetic counseling, it is increasingly important for genetic counselors to be able to define who we are, what we do, and how we add value to ...
Alison McEwen, McEwen, A, Chris Jacobs, Jacobs, C   +3 more
core   +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   +2 more sources

Adapting to the challenges of the global pandemic on genetic counselor education: Evaluating students’ satisfaction with virtual clinical experiences [PDF]

, 2021
Travel restrictions, physical distancing, and limits to clinical placements due to the global pandemic raised enormous challenges for genetic counseling education in 2020.
Alison McEwen, McEwen, A, Chris Jacobs, Jacobs, C   +3 more
core   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

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, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +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

Solid Pseudopapillary Neoplasm of the Pancreas in Children and Adolescents: Expert Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Solid pseudopapillary neoplasm of the pancreas (SPN) is a rare low‐grade malignant exocrine pancreatic tumor, mostly discovered during the second decade of life in females, with a very good prognosis, provided microscopically complete surgical excision is achieved.
Sabine Irtan, Michael Abele, Calogero Virgone, Michaela Kuhlen, Ricardo Lopez‐Almarez, Tal Ben‐Ami, Ewa Bien, Maja Cesen, Malgorzata A. Krawczyk, Andrea Ferrari, Gianni Bisogno, Yves Reguerre, Dominik T. Schneider, Louise Galmiche, Jorg Fuchs, Sarah Braungart, Bilgehan Yalcin, Ines B. Brecht, Daniel Orbach   +18 more
wiley   +1 more source