Results 31 to 40 of about 5,304,709 (301)

Genetic Testing Oversight [PDF]

Science, 2006
![Figure][1] A major impact of sequencing the human genome has been the ability to detect disease and the risk of disease through genetic testing. Today, there are genetic tests for more than 1000 diseases, and that number is increasing rapidly. Given the potential powerful health consequences of genetic test results, shouldn't someone be in charge ...
openaire   +2 more sources

Infant Embryonal CNS Tumors: Molecular Insights and Treatment Considerations for Contemporary Pediatric Neuro‐Oncology

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Embryonal tumors comprise the majority of malignant central nervous system (CNS) neoplasms diagnosed in children under 3 years of age. Compared with their counterparts in older children, these tumors exhibit distinct molecular biology and a more aggressive clinical phenotype, while their management is complicated by the heightened ...
Sudarshawn Damodharan, Mariah Wright‐Nadkarni, Mohamed S. Abdelbaki, Girish Dhall   +3 more
wiley   +1 more source

Direct-to-consumer genetic testing [PDF]

Genomics & Informatics, 2019
Direct-to-consumer (DTC) genetic testing is a controversial issue although Korean Government is considering to expand DTC genetic testing. Preventing the exaggeration and abusing of DTC genetic testing is an important task considering the early history ...
Jong-Won Kim
doaj   +1 more source

Issues in Genetic Testing [PDF]

Clinical Chemistry, 1999
“Issues in Genetic Testing” was the theme for the Eighth Clinical Chemistry Forum of the American Association for Clinical Chemistry. The 2-day meeting was held in Arlington, Virginia, on November 3 and 4, 1998, and was jointly sponsored on this occasion by the Association for Molecular Pathology.
D S, Young, D G, Leonard
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Ewing Sarcoma in Infants and Children Under 2 Years of Age: A French Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Ewing sarcoma, the second most common primary bone cancer in children, requires intensive treatment that may lead to significant long‐term sequelae, particularly in infants. We retrospectively analyzed data from 1621 French patients treated between 1988 and 2015 within the EW88/93/97 or EE99 trials, focusing on 17 infants diagnosed before 24 ...
Elodie Verdier, Nathalie Cozic, Marie‐Dominique Tabone, Gaelle Pierron, Perrine Marec‐Berard, Sarah Winter, Gabriel Revon‐Rivière, Cyril Lervat, Dominique Plantaz, Marie‐Pierre Castex, Gregory Guimard, Estelle Thebaud, Stephanie Proust, Laure Saumet, Natacha Entz‐Werle, Sophie Taque, Cécile Vérité, Marta Jimenez, Nathalie Gaspar   +18 more
wiley   +1 more source

Provider and Parent Perspectives on Prioritizing the “Asking and Monitoring” Pediatric Cancer Psychosocial Standards of Care

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The Standards for Psychosocial Care for Children with Cancer and Their Families (“Standards”) are evidence‐based guidelines for psychosocial care in pediatric oncology. Care related to the three “Asking and Monitoring” Standards—Assessment of Psychosocial Needs, Assessment of Financial Needs, and Monitoring Neurocognitive Problems ...
Julia B. Tager, Natalie Koskela‐Staples, Emily M. Pariseau, Michele Scialla, Kimberly Buff, Lori Wiener, Victoria Sardi Brown, Anne E. Kazak, Kimberly S. Canter   +8 more
wiley   +1 more source

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source

Survival After Hematopoietic Stem Cell Transplantation in Diamond–Blackfan Anemia Syndrome: The Role of Iron Overload—A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT We assessed the effect of iron overload (IO) on mortality and complications following hematopoietic stem cell transplantation (HSCT) in patients with Diamond–Blackfan anemia syndrome (DBAS) in a systematic review of individual participant data and cohort data from observational studies.
Geoffrey Z. L. Kuppens, Evangelia Kiakou, Lieke de Zwart, Maurizio Miano, Eduard J. van Beers, Marc Bierings, Marije Bartels   +6 more
wiley   +1 more source

A light-controlled one-tube detection platform combining CRISPR-Cas12a and RPA: an innovative approach for rapid diagnosis of Acinetobacter baumannii

Frontiers in Bioengineering and Biotechnology
BackgroundAcinetobacter baumannii (A. baumannii) is a significant pathogen associated with nosocomial infections, predominantly affecting immunocompromised patients, and is linked to high mortality rates.
Zihan Zhou, Zihan Zhou, Zihan Zhou, Zihan Zhou, Zihan Zhou, Lele Pan, Lele Pan, Lele Pan, Lele Pan, Lele Pan, Shihua Luo, Shihua Luo, Shihua Luo, Shihua Luo, Shihua Luo, Jiangmei Ma, Jiangmei Ma, Jiangmei Ma, Jiangmei Ma, Jiangmei Ma, Baoyan Ren, Baoyan Ren, Lina Liang, Lina Liang, Lina Liang, Lina Liang, Lina Liang, Xuebin Li, Xuebin Li, Xuebin Li, Xuebin Li, Guijiang Wei, Guijiang Wei, Guijiang Wei, Guijiang Wei, Guijiang Wei, Guijiang Wei   +36 more
doaj   +1 more source

Genetic testing in the classroom [PDF]

BMJ, 1995
EDITOR,--Recent advances in molecular genetics permit simple genetic testing; this has raised the possibility that suchtesting may be used to show genetic techniques as part of medical education. Indeed, in a biochemistry class in one medi l school first year medical students have undergone collective testing for the most common genetic defect causing ...
A, Tyler, D, Ball, A, Clarke
openaire   +2 more sources