Results 41 to 50 of about 616,961 (234)

Clinical Course and Impact of Breaks in Therapy for Children With Relapsed/Refractory Solid Tumors

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Pediatric relapsed or refractory (R/R) solid tumors carry a dismal prognosis, and postrelapse patient experiences are not well described. We present postrelapse outcomes, including number of R/R events and subsequent therapy regimens.
Matthew T. McEvoy, Elizabeth L. Seashore, W. Susan Cheng, Shondra Clay, Jessica A. Casas, Jennifer H. Foster   +5 more
wiley   +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

Deciphering mechanisms leading to preterm birth through post-GWAS integration of multi-omics data

iScience
Summary: Preterm birth (birth before 37 weeks) is a major cause of neonatal mortality and is linked to various health adversities in childhood and adult life. This study investigates the genetic factors contributing to spontaneous preterm birth (sPTB) in
Esha Bhattacharjee, Ramachandran Thiruvengadam, Divyank Varshney, Jagyashila Das, Ayushi, Rishika Maji, Piyali Mondal, Supratim Ghosh, Pragya Tailor, Uma Chandra Mouli Natchu, Nitya Wadhwa, Pallavi Kshetrapal, Shinjini Bhatnagar, Arindam Maitra   +13 more
doaj   +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

Decreased FMR1 mRNA levels found in men with substance use disorders

Heliyon, 2020
FMR1 gene (fragile X mental retardation 1) represents a genetic and epigenetic factor in a number of human diseases. Though the role of FMR1 gene in substance use disorders (SUDs) is not well studied, a number of investigations indicate that SUDs and ...
Maria Krasteva, Yana Koycheva, Rositsa Racheva, Teodora Taseva, Tsveta Raycheva, Stiliana Simeonova, Boryan Andreev   +6 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

The Application of Clinical Genetics

The Application of Clinical Genetics, 2012
Martin H MaurerDepartment of Physiology and Pathophysiology, University of Heidelberg, Heidelberg, Germany; Mariaberg Hospital for Child and Adolescent Psychiatry, Gammertingen, GermanyIn 2012, The Application of Clinical Genetics enters its fifth year ...
Maurer MH
doaj  

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

Commentary: The mutations and clinical variability in maternally inherited diabetes and deafness: an analysis of 161 patients

Frontiers in Endocrinology, 2023
Ivo P. van de Peppel, Ivo P. van de Peppel, Serwet Demirdas, Behiye Özcan   +3 more
doaj   +1 more source

Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant

Frontiers in Genetics
Nonketotic hyperglycinemia (NKH) is a rare, autosomal recessive metabolic disorder usually associated with mutations in genes AMT, GLDC or GCSH involved in the glycine cleavage complex.
Victor Marin, Louis Lebreton, Claire Guibet, Claire Guibet, Samir Mesli, Isabelle Redonnet-Vernhet, Mathurin Dexant, Delphine Lamireau, Sandrine Roche, Margaux Gaschignard, Jean Delmas, Henri Margot, Claire Bar   +12 more
doaj   +1 more source