Integrating Genetic Services in the Philippine Public Health Delivery System: The Value of NetworksArticle Published on 2024-06-132024-09-05 Journal: Genes [Category] update2024, [키워드] birth defects Genetic counseling genetics newborn screening rare diseases telegenetics [DOI] 10.3390/genes15060780 PMC 바로가기 [Article Type] Article
Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic ApproachReview Published on 2024-05-262024-09-05 Journal: Cancers [Category] update2024, [키워드] cancer genetics cancer predisposition syndromes gene panel Genetic predisposition newborn screening NGS pediatric cancer [DOI] 10.3390/cancers16112017 PMC 바로가기 [Article Type] Review
High Throughput Newborn Screening for Sickle Cell Disease – Application of Two-Tiered Testing with a qPCR-Based Primary screenarticle Published on 2023-09-252024-09-05 Journal: Klinische Pädiatrie [Category] update2024, [키워드] Benchmarking High-throughput screening Hochdurchsatz-Screening Laborvergleich Neugeborenenscreening newborn screening qPCR Sichelzellkrankheit Sickle cell disease two-tiered testing zweistufige Diagnostik [DOI] 10.1055/a-2153-7789 PMC 바로가기 [Article Type] article
Loop-mediated isothermal amplification assay for screening congenital cytomegalovirus infection in newbornsarticle Published on 2023-09-192024-09-05 Journal: Applied Microbiology and Biotechnology [Category] update2024, [키워드] Congenital cytomegalovirus infection Loop-mediated isothermal amplification newborn screening polymerase chain reaction [DOI] 10.1007/s00253-023-12771-2 PMC 바로가기 [Article Type] article
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrixarticle Published on 2023-07-212024-09-05 Journal: Genome Biology [Category] update2024, [키워드] Genotype mass spectrometry Metachromatic leukodystrophy Mutation newborn screening phenotype [DOI] 10.1186/s13059-023-03001-z PMC 바로가기 [Article Type] article
Glucose 6 phosphate dehydrogenase deficiency quantitative test in dried blood spot- a potential marker for adult unknown G6PD deficiencyarticle Published on 2023-01-312024-09-01 Journal: Trop Doct [Category] 말라리아, [키워드] dried blood spot G6PD malaria newborn screening [Article Type] article
Maternal SARS-CoV-2 sero-surveillance using newborn dried blood spot (DBS) screening specimens highlights extent of low vaccine uptake in pregnant womenArticle Published on 2022-11-302022-11-15 Journal: Human vaccines & immunotherapeutics [Category] COVID19(2023년), SARS, 변종, 진단, [키워드] Adults analyzed Antibody concentrations Antibody neutralization Blood complications contributing to COVID COVID-19 delta variant dose Dried blood spots fetal General population help highlight Hospital admissions Immunity IMPROVE information Intervention Maternal MONITOR natural infection Newborn newborn screening omicron outcomes pregnant women proportion reduction in representing Result SARS-CoV-2 SARS-CoV-2 IgG SARS-CoV-2 IgG antibodies serostatus specimen the SARS-CoV-2 the vaccine utility vaccination Vaccine women [DOI] 10.1080/21645515.2022.2089498 PMC 바로가기
Trends in Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Seroprevalence in Massachusetts Estimated from Newborn Screening Specimens신생아 선별 검체에서 추정한 매사추세츠 주의 중증 급성 호흡기 증후군 코로나바이러스 2(SARS-CoV-2) 혈청 유병률의 추세Article Published on 2022-08-242022-09-12 Journal: Clinical Infectious Diseases: An Official Publicat [Category] SARS, 진단, [키워드] acute respiratory syndrome analyzed antibody Bayesian black collected Community Concordance coronavirus coronavirus 2 cumulative cumulative incidence diagnostic estimate Estimated fraction higher odd highest identify incidence increase in Massachusett Massachusetts Maternal maternal antibody Newborn newborn screening Protective public health reported representing respiratory retrospective risk SARS-CoV-2 SARS-CoV-2 transmission Screening Seroprevalence specificity specimen Surveillance susceptible sustained Transmission trend widespread [DOI] 10.1093/cid/ciac158 PMC 바로가기 [Article Type] Article
Future of Therapy for Inborn Errors of ImmunityArticle Published on 2022-01-122024-09-04 Journal: Clinical reviews in allergy & immunology [Category] 대상포진, [키워드] fusion protein Gene therapy inborn errors of immunity monoclonal antibodies newborn screening Primary Immunodeficiency Small molecule inhibitors [DOI] 10.1007/s12016-021-08916-8 PMC 바로가기 [Article Type] Article
Prevalence and Risk Factors of SARS-CoV-2 Infection among Parturients and Newborns from Luanda, AngolaArticle Published on 2021-11-162022-10-28 Journal: Pathogens [Category] COVID-19, [키워드] age Angola Antenatal carried China consequence COVID-19 COVID-19 case creating cross-sectional disease Factor Follow-up Infection intensive management investigated Luanda maternal breastfeeding mother Neonate Newborn newborn screening parturient Pharyngeal swab positive Pregnancy pregnant women previous study public health Rapid remains uncertain risk factor RT-PCR SARS-CoV-2 SARS-COV-2 infection SARS-CoV-2 transmission Seven severity tested Testing Transmission [DOI] 10.3390/pathogens10111494 PMC 바로가기 [Article Type] Article