Results 61 to 70 of about 10,831,444 (295)

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

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

Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD)

International Journal of Molecular Sciences, 2020
Autism spectrum disorder (ASD) consists of a genetically heterogenous group of neurobehavioral disorders characterized by impairment in three behavioral domains including communication, social interaction, and stereotypic repetitive behaviors.
A. Genovese, M. Butler
semanticscholar   +1 more source

Genetics, Insurance and Professional Practice: Survey of the Australasian Clinical Genetics Workforce

Frontiers in Public Health, 2018
In Australia and New Zealand, by contrast with much of the developed world, insurance companies can use genetic test results to refuse cover or increase premiums for mutually-rated insurance products, including life, income protection and disability ...
Jane Tiller, Jane Tiller, Louise Keogh, Samantha Wake, Martin Delatycki, Martin Delatycki, Martin Delatycki, Margaret Otlowski, Paul Lacaze   +8 more
doaj   +1 more source

Implementing Health‐Related Quality of Life Assessment in Pediatric Oncology: A Feasibility Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background There is growing interest in embedding health‐related quality of life (HRQoL) assessment and patient‐reported outcome measures (PROMs) within clinical cancer care. This study evaluated the feasibility, acceptability, and usability of implementing an electronic PROM (ePROM) platform to measure HRQoL in children with cancer ...
Mikaela Doig, Sophie Jessop, Jordan R. Hansford, Hien Le, Matthew O'Connor, Peter Gorayski, Andrew Cunningham, Amanda Hutchinson, Victoria Bedford, Eva Bezak, Nayana Parange, Kelly Skelton, Timothy Price, Michala Short   +13 more
wiley   +1 more source

Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Genome Medicine, 2017
Clinical genetics laboratories have recently adopted guidelines for the interpretation of sequence variants set by the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP).
Lora J. H. Bean, Madhuri R. Hegde
doaj   +1 more source

Treatment Decision‐Making Roles and Preferences Among Adolescents and Young Adults With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Decision‐making (DM) dynamics between adolescents and young adults (AYAs) with cancer, parents, and oncologists remain underexplored in diverse populations. We examined cancer treatment DM preferences among an ethnically and socioeconomically diverse group of AYAs and their parents.
Amanda M. Gutierrez, Jill O. Robinson, Wendy A. Allen‐Rhoades, Hadley S. Smith, Isabel Canfield, Rebecca L. Hsu, Sarah R. Scollon, Lauren R. Desrosiers‐Battu, Nicole M. Schneider, Frank Y. Lin, Donald Williams Parsons, Sharon E. Plon, Mary A. Majumder, Janet Malek, Amy L. McGuire   +14 more
wiley   +1 more source

Unveiling differential gene co-expression networks and its effects on levodopa-induced dyskinesia

iScience
Summary: Levodopa-induced dyskinesia (LID) refers to involuntary motor movements of chronic use of levodopa in Parkinson’s disease (PD) that negatively impact the overall well-being of people with this disease.
Tatiane Piedade de Souza, Gilderlanio Santana de Araújo, Leandro Magalhães, Giovanna C. Cavalcante, Arthur Ribeiro-dos-Santos, Camille Sena-dos-Santos, Caio Santos Silva, Gracivane Lopes Eufraseo, Alana de Freitas Escudeiro, Giordano Bruno Soares-Souza, Bruno Lopes Santos-Lobato, Ândrea Ribeiro-dos-Santos   +11 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

Molecular genetics of epilepsy: A clinician's perspective

Annals of Indian Academy of Neurology, 2017
Epilepsy is a common neurological problem, and there is a genetic basis in almost 50% of people with epilepsy. The diagnosis of genetic epilepsies makes the patient assured of the reasons of his/her seizures and avoids unnecessary, expensive, and ...
Vikas Dhiman
doaj   +1 more source