Large scale population screening for Duchenne muscular dystrophy—Predictable and unpredictable challenges
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6201
Abstract: Large deletions and duplications account for 65%–80% of pathogenic Duchenne muscular dystrophy (DMD) variants. A nationwide carrier screening for DMD was initiated in Israel in 2020. We assessed the carrier rate and spectrum of variants… read more here.
Keywords: population screening; duchenne muscular; muscular dystrophy; large scale ... See more keywords
Atrial Fibrillation Population Screening.
Sign Up to like & getrecommendations! Published in 2021 at "Cardiac electrophysiology clinics"
DOI: 10.1016/j.ccep.2021.04.009
Abstract: Atrial fibrillation (AF) is associated with adverse outcomes. Screening may lead to earlier recognition and treatment of asymptomatic AF. However, most evidence regarding AF applies to clinical AF, with symptoms or electrocardiographic diagnosis. Whether this… read more here.
Keywords: atrial fibrillation; population screening; fibrillation population; population ... See more keywords
Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population
Sign Up to like & getrecommendations! Published in 2017 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2017.03.005
Abstract: We performed targeted population screening of late onset Pompe disease (LOPD) in unspecified myopathy patients, because early diagnosis is difficult due to its heterogeneous clinical features. We prospectively enrolled 90 unrelated myopathic patients who had… read more here.
Keywords: late onset; targeted population; screening late; onset pompe ... See more keywords
Fluorescence visualization improves the detection of oral potentially malignant disorders in population screening.
Sign Up to like & getrecommendations! Published in 2019 at "Photodiagnosis and photodynamic therapy"
DOI: 10.1016/j.pdpdt.2019.05.017
Abstract: BACKGROUND Scientific literature shows the great potential of fluorescence visualization (FV) in the detection of lesions in the skin and mucosa, though its use has been underestimated. Thus, the aim of this study was to… read more here.
Keywords: population screening; potentially malignant; malignant disorders; fluorescence visualization ... See more keywords
One step forward, two steps backward
Sign Up to like & getrecommendations! Published in 2019 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0660-5
Abstract: To the Editor: We wish to express our concerns about the policy statement of the American College of Medical Genetics and Genomics (ACMG) regarding secondary/incidental findings (SF) and population screening as it applies to cancer… read more here.
Keywords: cancer; susceptibility genes; population screening; cancer susceptibility ... See more keywords
Delayed sample arrival at the laboratory does not lead to more false negatives in the Danish population screening for colorectal cancer
Sign Up to like & getrecommendations! Published in 2017 at "Scandinavian Journal of Clinical and Laboratory Investigation"
DOI: 10.1080/00365513.2017.1379091
Abstract: Abstract In Denmark, biennial population screening for colorectal cancer was introduced in 2014 for all aged 50–74 years. Five laboratories representative for the regional division of Denmark perform the immunochemical testing of faecal occult blood… read more here.
Keywords: ifobt tests; population screening; colorectal cancer; screening colorectal ... See more keywords
Utilizing Public Health Frameworks and Partnerships to Ensure Equity in DNA-Based Population Screening
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.886755
Abstract: DNA-Based population screening in the United States has the promise to improve the health of all people in all communities. We highlight recent DNA-based population screening examples at the state, local, and individual level. Key… read more here.
Keywords: based population; health; public health; dna based ... See more keywords
Overview on population screening for carriers with germline BRCA mutation in China
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2022.1002360
Abstract: Carriers with BRCA1/2 germline pathogenic variants are associated with a high risk of breast and ovarian cancers (also pancreatic and prostate cancers). While the spectrum on germline BRCA mutations among the Chinese population shows ethnic… read more here.
Keywords: germline brca; brca mutation; carriers germline; mutation ... See more keywords