Myocardial Infarction Following COVID-19 Vaccine Administration: Post Hoc, Ergo Propter Hoc?COVID-19 백신 투여 후 심근 경색: 사후, Ergo Propter Hoc?Case Reports Published on 2022-07-272022-09-12 Journal: Viruses [Category] MERS, 진단, [키워드] absence acute cardiovascular events age all subject Analysis antibody cardiac event carrier coronavirus disease COVID-19 COVID-19 vaccination death determinant effective FIVE Genetic testing genotypes heterogenous histopathological information men Mutation Myocardial Myocardial infarction myocarditis pandemic pathophysiological performed Post-mortem Post-vaccine pro-thrombotic reported Research thrombotic Vaccine vaccine administration while yielding [DOI] 10.3390/v14081644 PMC 바로가기 [Article Type] Case Reports
The use of telemedicine in cardiogenetics clinical practice during the COVID-19 pandemicCOVID-19 전염병 동안 심장 유전학 임상 실습에서 원격 의료 사용Article Published on 2022-06-012022-09-11 Journal: Molecular Genetics & Genomic Medicine [Category] 유전자 메커니즘, [키워드] analyzed cardiogenetics center Clinical characteristics Clinical practice Columbia University Columbia University Irving Medical Center counseling COVID-19 COVID-19 pandemic expand Genetic Genetic counseling Genetic testing health-care mechanism New York one patient pandemic Patient state telegenetics Telemedicine the patient widespread [DOI] 10.1002/mgg3.1946 PMC 바로가기 [Article Type] Article
Germline testing and genetic counselling in prostate cancer Reviews Published on 2022-04-212022-10-05 Journal: Nature reviews. Urology [Category] 바이오마커, 변종, 유전자 메커니즘, [키워드] Cancer Care clinical feature complex develop driven by Genetic Genetic testing germline health-care increasingly information management men metastatic disease pathogenic variant Patient Precision precision therapy professional Prostate cancer Rate reported risk syndrome understanding unique [DOI] 10.1038/s41585-022-00580-7 [Article Type] Reviews
Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency증례 보고서: 공통 변수 면역 결핍으로 나타나는 X-연관 SASH3 결핍Case Reports Published on 2022-04-082022-09-11 Journal: Frontiers in Immunology [Category] COVID19(2023년), SARS, 변종, [키워드] age Autoimmune B cell bilateral pneumonia CD4 CD8 cells combined immunodeficiency common common variable immunodeficiency CVID deficiency described diagnosed dysregulation elevated Genetic testing genetics Haemophilus influenzae Haemophilus influenzae type b humans IgG and IgM immune dysregulation Immunity immunodeficiency immunological phenotype Inborn errors inborn errors of immunity Infection infections Influenza influenza infection loss-of-function lymphopenia memory B cells mucosal Mutation naïve T cells Patient patients phenotype polysaccharide primary immunodeficiencies. proliferation Protein reduced reported RNA SARS-CoV-2 SASH3 SASH3 deficiency Signaling Streptococcus pneumoniae survival T cell T cell activation T cells T-cell TCR Vaccine variable variant varicella Varicella zoster virus viral infection viral infections virus X-linked [DOI] 10.3389/fimmu.2022.881206 PMC 바로가기 [Article Type] Case Reports
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population전기 생리학 유도 유전 특성 분석은 아일랜드 소아 유전 망막 변성 인구에서 분자 진단을 최대화합니다Article Published on 2022-03-292022-09-11 Journal: Genes [Category] MERS, SARS, 변종, 진단, 치료기술, [키워드] achromatopsia approach approved blindness blueprint Care cause CEP290 children clinical and genetic findings clinical trial CNGA3 CNGB3 Cohort congenital amaurosis Critical definitive diagnosis eligible Evidence Gene therapy Genes Genetic genetic counselling genetic findings Genetic testing Helsinki implication inherited blindness inherited retinal degenerations Ireland Laboratory Leber congenital amaurosis paediatric ophthalmology pandemic panel-based next generation sequencing pathway Patient patients pedigree phenotypic Population resolved Retinal Degeneration retinal dystrophy retinitis pigmentosa retinitis pigmentosa. RPE65 RPGR RS1 Sequencing therapeutic therapy trials [DOI] 10.3390/genes13040615 PMC 바로가기 [Article Type] Article
Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing studyArticle Published on 2022-02-232024-09-04 Journal: Circulation [Category] 대상포진, [키워드] arrhythmia Electronic health records Electrophysiology Genetic testing Long QT syndrome [DOI] 10.1161/CIRCULATIONAHA.121.055562 PMC 바로가기 [Article Type] Article
Viral isolation analysis of SARS-CoV-2 from clinical specimens of COVID-19 patientsCOVID-19 환자의 임상 표본에서 SARS-CoV-2의 바이러스 분리 분석Article Published on 2022-02-012022-09-11 Journal: Journal of infection and chemotherapy : official j [Category] COVID19(2023년), SARS, 치료기술, [키워드] Analysis Cell Chain Reaction clinical Clinical specimens Contamination correlation COVID-19 COVID-19 patient COVID-19 patients Ct value Ct values cultured cells cycle Cytopathic effect detectable diagnosis of COVID-19 examined Genetic testing herpes simplex herpes simplex virus herpes simplex virus type 1 Infectious virus infectious viruses investigated Isolation less Lower no significant difference PCR test polymerase chain polymerase chain reaction reverse transcriptase rRT-PCR rRT-PCR test SARS-CoV-2 SARS-CoV-2 genome specimen the mean threshold Threshold cycle (Ct) value TMPRSS2 TMPRSS2 cells transcriptase VeroE6 cell VeroE6 cells VeroE6/TMPRSS2 virus virus isolation [DOI] 10.1016/j.jiac.2021.10.028 PMC 바로가기 [Article Type] Article
Clinical Outcome and Underlying Genetic Cause of Functional Terminal Complement Pathway Deficiencies in a Multicenter UK Cohort다기관 영국 코호트에서 기능적 말단 보체 경로 결핍의 임상 결과 및 기본 유전적 원인Multicenter Study Published on 2022-01-272022-09-10 Journal: Journal of Clinical Immunology [Category] 변종, [키워드] affected analysed antigenic Asian Asymptomatic booster cause CFH CFI clinical Clinical course Clinical outcome Cohort complement Complement pathway Concentration conditions Consumption COVID-19 deficiencies deficiency develop diagnosed died Factor H Factor I family history family member genetic etiology Genetic testing Genetic variation genetics Infection infections intensive care investigated laboratory data lack management median age Meningococcal infection one patient pathogenic pathway Patient patients prophylactic antibiotics provided Regulatory Result Screening secondary to septicaemia serotype serum Seven suffered supplementary material terminal Terminal complement pathway the patient treated Two patient two patients Vaccine variants [DOI] 10.1007/s10875-022-01213-9 PMC 바로가기 [Article Type] Multicenter Study
Further Delineation of the Spectrum of XMEN Disease in Six Chinese Pediatric PatientsOriginal Research Published on 2022-01-252024-09-02 Journal: Frontiers in Genetics [Category] 대상포진, [키워드] elevated liver enzymes Genetic testing immunodeficiency MAGT1 gene XMEN [DOI] 10.3389/fgene.2022.768000 PMC 바로가기 [Article Type] Original Research
Performance of anti-SARS-CoV-2 antibody testing in asymptomatic or mild COVID-19 patients: A retrospective study in outbreak on a cruise ship무증상 또는 가벼운 CovID-19 환자에서 항 -SARS-COV-2 항체 검사의 성능 : 유람선 발병에 대한 후 향적 연구Research Article Published on 2021-09-282022-09-10 Journal: PLoS ONE [Category] SARS, 진단, 치료기술, 치료법, [키워드] acute respiratory syndrome acute respiratory syndrome coronavirus anti-SARS-CoV-2 antibody anti-SARS-CoV-2 IgM antibody Antibody responses Antibody testing Antibody titer Antibody titers Asymptomatic blood sample Blood samples collected coronavirus coronavirus disease Coronavirus disease 2019 COVID-19 COVID-19 pandemic COVID-19 patient Cruise ship Diagnosis electrochemiluminescence immunoassay ELISA enzyme enzyme-linked immunosorbent enzyme-linked immunosorbent assay evaluated false-negative Follow-up Genetic Genetic testing IgG antibodies IgG antibody IgM antibodies IgM antibody immunochromatographic assay initial lateral flow lateral flow immunochromatographic assay Mild mild COVID-19 patient mild COVID-19 patients nucleocapsid objective outbreak Patient performance positive result required respiratory responses Result Retrospective study Sample SARS-CoV-2 significantly lower specificity Spike protein Spike proteins the patient titer titers total antibodies total antibody used to evaluate was performed were measured [DOI] 10.1371/journal.pone.0257452 PMC 바로가기 [Article Type] Research Article