Results 31 to 40 of about 79,516 (257)

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

Molecular Methods for Rare Hemoglobinopathy Cases: First Brazilian Report of Pediatric Siblings with Hb O‐Arab and Alpha‐Thalassemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hemoglobinopathies are prevalent globally; diagnosis is complex in high genetic admixture populations like Brazil. We report, in two pediatric siblings, the first documented cases in Brazil of heterozygosity for hemoglobin (Hb) O‐Arab with coinheritance of α‐thalassemia (αα/−α4.2; −α3.7/−α4.2), resulting in microcytic and hypochromic anemia ...
Elisângela de Souza Miranda Muynarsk, Amanda Cristina Meneguetti Berti, Bárbara Braga Vieira Marques, Victoria Simões Bernardo, Flaviene Felix Torres, Ingrid Souza Dias, Vanessa da Silveira Ramos de Castro, Gabriela Alves Bernardino, Danilo Grünig Humberto da Silva, Edis Belini‐Júnior   +9 more
wiley   +1 more source

Examining the impact of genetic testing for type 2 diabetes on health behaviors: study protocol for a randomized controlled trial

Trials, 2012
Background We describe the study design, procedures, and development of the risk counseling protocol used in a randomized controlled trial to evaluate the impact of genetic testing for diabetes mellitus (DM) on psychological, health behavior, and ...
Voils Corrine I, Coffman Cynthia J, Edelman David, Maciejewski Matthew L, Grubber Janet M, Sadeghpour Azita, Cho Alex, McKenzie Jamiyla, Blanpain Francoise, Scheuner Maren, Sandelowski Margarete, Gallagher M, Ginsburg Geoffrey S, Yancy William S   +13 more
doaj   +1 more source

From genetic counseling to “genomic counseling” [PDF]

Molecular Genetics & Genomic Medicine, 2013
Genetic counseling is “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.” Traditionally, this process includes collecting and interpreting the family and medical history, risk assessment, a comprehensive educational process for potential genetic testing ...
openaire   +2 more sources

Alveolar Soft Part Sarcoma in Pediatric and Young Adult Patients: A Report From the Children's Oncology Group Study ARST0332

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Alveolar soft part sarcoma (ASPS) is a rare soft tissue sarcoma occurring most commonly in adolescence and young adulthood. Methods We present the clinical characteristics, treatments, and outcomes of patients with newly diagnosed ASPS enrolled on the Children's Oncology Group study ARST0332.
Jacquelyn N. Crane, Wei Xue, Amira Qumseya, Thomas Scharschmidt, Kathryn R. Tringale, Oscar Lopez Nunez, Jiaqi Hu, Donald A. Barkauskas, Rajkumar Venkatramani, Sheri L. Spunt, Aaron R. Weiss, Noah C. Federman   +11 more
wiley   +1 more source

Genetic counseling development and milestone in Oman

Genetics in Medicine Open
Genetic counseling as an emerging profession has seen an expansion around the world. In the Sultanate of Oman, the profession has developed with the establishment of clinical and biochemical genetic services in 2010 and genetic counseling services in ...
Khalsa Al-Kharusi, Chantel Van Wyk, Mariya Al Hinai, Amel Al-Fori, Zandre Bruwer   +4 more
doaj   +1 more source

Racial disparities in cancer genetic counseling encounters: study protocol for investigating patient-genetic counselor communication in the naturalistic clinical setting using a convergent mixed methods design

BMC Cancer, 2023
Background Despite decades of effort to reduce racial cancer disparities, Black people continue to die at higher rates from cancer than any other U.S. racial group.
Nao Hagiwara, Nadia Harika, Erin P. Carmany, Yongyun Shin, Susan Eggly, Shawn C. T. Jones, John Quillin   +6 more
doaj   +1 more source

Parent Quality of Life at Two Years Following Their Child's Completion of Acute Lymphoblastic Leukemia Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Parents of children treated for acute lymphoblastic leukemia (ALL) often experience significant caregiver burden and disruption to their well‐being. While parent quality of life (QoL) during treatment is well characterized, little is known about outcomes during early survivorship.
Sara Dal Pra, Maria McCarthy, Michael Takagi, Cinzia De Luca   +3 more
wiley   +1 more source

GENETIC COUNSELLING [PDF]

Medical Journal of Australia, 1969
  +14 more sources

Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions

Hereditary Cancer in Clinical Practice
Background Lynch syndrome represents the most common hereditary cause of both colorectal and endometrial cancer. It is caused by defects in mismatch repair genes, as well as EPCAM. Universal screening of colon tumors for Lynch syndrome via microsatellite
Alexander T. Petterson, Jennifer Garbarini, Maria J. Baker   +2 more
doaj   +1 more source