Results 51 to 60 of about 199,361 (374)

Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes

Нервно-мышечные болезни, 2015
Hereditary myotonic syndromes (HMS) are a group of genetically heterogeneous diseases of the chlorine and sodium ion channels (channelopathies) with evident clinical polymorphism and high prevalence in the population.
V. P. Fedotov, S. A. Kurbatov, E. A. Ivanova, N. M. Galeeva, A. V. Polyakov   +4 more
doaj   +1 more source

Knowledge assessment and psychological impact of genetic counseling in people at risk for familial FTD

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 2021
Introduction The decision to undergo genetic testing for familial frontotemporal dementia (fFTD) is challenging and complex. When counseling individuals, clinicians need to know what individuals understand about the type of fFTD for which they may be at ...
Bonnie Wong, Diane Lucente, Samantha Krivensky, Erin Krahn, Jason Karlawish, Bradford C. Dickerson   +5 more
doaj   +1 more source

Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M)

Frontiers in Reproductive Health, 2023
Pre-implantation genetic testing (PGT) is a vital tool in preventing chromosomal aneuploidies and other genetic disorders including those that are monogenic in origin. It is performed on embryos created by intracytoplasmic sperm injection (ICSI). Genetic
Firuza Parikh, Arundhati Athalye, Prochi Madon, Meenal Khandeparkar, Dattatray Naik, Rupesh Sanap, Anuradha Udumudi   +6 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

Who Counsels Parents of Newborns Who Are Carriers of Sickle Cell Anemia or Cystic Fibrosis? [PDF]

, 2013
Our objective was to describe: 1) physicians’ knowledge of whether genetic counseling is provided to parents of newborns with sickle cell trait (SCT) or who are cystic fibrosis carriers (CFC), and 2) the prevalence of genetic counseling provided by ...
Campbell, Andrew D., Moseley, Kathryn L., Nasr, Samya Z., Schuette, Jane L.   +3 more
core   +1 more source

Long-Term Follow-Up Study on the Uptake of Genetic Counseling and Predictive DNA Testing in Inherited Cardiac Conditions [PDF]

, 2020
BACKGROUND: Inherited cardiac conditions present with a wide range of symptoms and may even result in sudden cardiac death. Relatives of probands with a confirmed pathogenic genetic variant are advised predictive DNA testing to enable prevention and ...
Christiaans, Imke, Smets, Ellen M A, van den Heuvel, Lieke M, van der Roest, Wilma, van Langen, Irene M, van Teijlingen, Maxiem O, van Tintelen, J Peter   +6 more
core   +2 more sources

Detailed kinship estimation for detecting bias among breeding families in a reintroduced population of the endangered bagrid catfish Tachysurus ichikawai

Population Ecology, EarlyView.
In the process of captive breeding and reintroduction of endangered animal species, it is crucial to minimize familial bias in reproductive success during the reintroduction phase to preserve genetic diversity. In this study, we attempted to identify the familial lineage of individuals of the endangered bagrid fish Tachysurus ichikawai born at the ...
Hinano Mizuno, Kouji Nakayama, Tetsuya Akita, Yasuyuki Hashiguchi, Tomonori Osugi, Hirohiko Takeshima   +5 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

Pilot study of a culturally sensitive intervention to promote genetic counseling for breast cancer risk

BMC Health Services Research, 2022
Background Despite the benefits of genetic counseling and testing, uptake of cancer genetic services is generally low and Black/African American (Black) women are substantially less likely to receive genetic services than non-Hispanic White women.
Vida Henderson, Jessica M. Madrigal, Le’ Chaun Kendall, Pooja Parekh, Jennifer Newsome, Ifeanyi Beverly Chukwudozie, De Lawnia Comer-Hagans, Vickii Coffey, Giesela Grumbach, Shirley Spencer, Carolyn Rodgers, Ravneet Kaur, Lara Balay, Tara Maga, Zo Ramamonjiarivelo, Catherine Balthazar, Robert Winn, Karriem Watson, Angela Odoms-Young, Kent F. Hoskins   +19 more
doaj   +1 more source

ChatCounselor: A Large Language Models for Mental Health Support [PDF]

arXiv, 2023
This paper presents ChatCounselor, a large language model (LLM) solution designed to provide mental health support. Unlike generic chatbots, ChatCounselor is distinguished by its foundation in real conversations between consulting clients and professional psychologists, enabling it to possess specialized knowledge and counseling skills in the field of ...
arxiv