RESUMO
HLA-C*17:01:01:29 differs from the HLA-C*17:01:01:05 allele by one nucleotide substitution in the 3'UTR.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Grécia , Alelos , Regiões 3' não TraduzidasRESUMO
HLA-C*04:01:01:174 differs from the HLA-C*04:01:01:06 allele by one nucleotide substitution in the intron 5.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Grécia , Alelos , ÍntronsRESUMO
HLA-C*01:02:01:70 differs from the HLA-C*01:02:01:01 allele by one nucleotide substitution in the intron 4.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Grécia , Alelos , ÍntronsRESUMO
HLA-B*41:02:01:11 and -C*08:266 were detected in a solid organ recipient during the HLA typing process.
Assuntos
Genes MHC Classe I , Genômica , Humanos , Alelos , Antígenos HLA-B/genética , Teste de HistocompatibilidadeRESUMO
HLA-A*01:01:01:112 differs from the HLA-A*01:01:01:01 allele by one nucleotide substitution in the 5'UTR.
Assuntos
Medula Óssea , Antígenos HLA-A , Humanos , Alelos , Grécia , Regiões 5' não Traduzidas , Antígenos HLA-A/genéticaRESUMO
HLA-B*47:01:01:07 differs from the HLA-B*47:01:01:03 allele by one nucleotide deletion in the 3'UTR.
Assuntos
Medula Óssea , Genes MHC Classe I , Humanos , Alelos , Grécia , Antígenos HLA-B/genéticaRESUMO
In the realm of DNA testing with legal implications, the reliability and precision of genetic markers play a pivotal role in confirming or negating paternity claims. This study aimed to assess the potential utility of human leukocyte antigen (HLA) gene polymorphism through massively parallel sequencing (MPS) technology as robust forensic markers for parentage testing involving genetic deficiencies. It sought to redefine the significance of HLA genes in this context. Data on autosomal short tandem repeat (aSTR) mutational events across 18 paternity cases involving 16 commonly employed microsatellite loci were presented. In instances where traditional aSTR analysis failed to establish statistical certainty, kinship determination was pursued via HLA genotyping, encompassing the amplification of 17 linked HLA loci. Within the framework of this investigation, phase-resolved genotypes for HLA genes were meticulously generated, resulting in the definition of 34 inherited HLA haplotypes. An impressive total of 274 unique HLA alleles, which were classified at either the field 3 or 4 level, were identified, including the discovery of four novel HLA alleles. Likelihood ratio (LR) values, which indicated the likelihood of the observed data under a true biological relationship versus no relationship, were subsequently calculated. The analysis of the LR values demonstrated that the HLA genes significantly enhanced kinship determination compared with the aSTR analysis. Combining LR values from aSTR markers and HLA loci yielded conclusive outcomes in duo paternity cases, showcasing the potential of HLA genes and MPS technology for deeper insights and diversity in genetic testing. Comprehensive reference databases and high-resolution HLA typing across diverse populations are essential. Reintegrating HLA alleles into forensic identification complements existing markers, creating a potent method for future forensic analysis.
Assuntos
Impressões Digitais de DNA , Paternidade , Polimorfismo Genético , Humanos , Alelos , Impressões Digitais de DNA/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Antígenos HLA/genética , Reprodutibilidade dos TestesRESUMO
HLA-B*51:01:01:109 differs from HLA-B*51:01:01:01 by one nucleotide substitution in intron 5.
Assuntos
Antígenos HLA-B , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Grécia , Antígenos HLA-B/genéticaRESUMO
HLA-A*02:01:01:243 differs from the HLA-A*02:01:01:01 allele by one nucleotide substitution in the 5'UTR.
Assuntos
Antígenos HLA-A , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Grécia , Regiões 5' não Traduzidas , Antígenos HLA-A/genéticaRESUMO
HLA-A*02:05:01:23 differs from HLA-A*02:05:01:01 by one nucleotide substitution in intron 6.
Assuntos
Antígenos HLA-A , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Grécia , Antígenos HLA-A/genéticaRESUMO
HLA-B*18:01:01:73 differs from HLA-B*18:01:01:02 by one nucleotide substitution in intron 2.
Assuntos
Antígenos HLA-B , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Grécia , Antígenos HLA-B/genética , Genes MHC Classe IRESUMO
Characterization of the novel HLA-C*07:1052 allele in a Greek individual using next-generation sequencing.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Alelos , Grécia , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
Characterization of the novel HLA-A*01:426 allele in a 21-year-old Greek male bone marrow donor.
Assuntos
Transplante de Medula Óssea , Medula Óssea , Humanos , Masculino , Adulto Jovem , Adulto , Alelos , Grécia , Teste de Histocompatibilidade , Doadores de Tecidos , Antígenos HLA-A/genética , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
Characterization of the novel HLA-DPB1*02:01:68 allele in a 27-year-old Greek hematopoietic stem cell transplant candidate.
Assuntos
Transplante de Células-Tronco Hematopoéticas , Humanos , Adulto , Alelos , Grécia , Cadeias beta de HLA-DP/genéticaRESUMO
Characterization of the novel HLA-A*02:09:01:04 allele in a 36-year-old Greek female.
Assuntos
Antígenos HLA-A , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Feminino , Adulto , Alelos , Grécia , Antígenos HLA-A/genéticaRESUMO
Characterization of the novel HLA-A*24:587 allele in a Greek individual using next-generation sequencing.
Assuntos
Genômica , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Grécia , Análise de Sequência de DNA , Antígenos HLA-A/genéticaRESUMO
Characterization of the novel HLA-B*51:380 allele in a Greek individual using next-generation sequencing.
Assuntos
Antígenos HLA-B , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Grécia , Antígenos HLA-B/genética , MutaçãoRESUMO
Growing evidence suggests that sleep could affect the immunological response after vaccination. The aim of this prospective study was to investigate possible associations between regular sleep disruption and immunity response after vaccination against coronavirus disease 2019 (COVID-19). In total, 592 healthcare workers, with no previous history of COVID-19, from eight major Greek hospitals were enrolled in this study. All subjects underwent two Pfizer-BioNTech messenger ribonucleic acid (mRNA) COVID-19 vaccine BNT162b2 inoculations with an interval of 21 days between the doses. Furthermore, a questionnaire was completed 2 days after each vaccination and clinical characteristics, demographics, sleep duration, and habits were recorded. Blood samples were collected and anti-spike immunoglobulin G antibodies were measured at 20 ± 1 days after the first dose and 21 ± 2 days after the second dose. A total of 544 subjects (30% males), with median (interquartile range [IQR]) age of 46 (38-54) years and body mass index of 24·84 (22.6-28.51) kg/m2 were eligible for the study. The median (IQR) habitual duration of sleep was 6 (6-7) h/night. In all, 283 participants (52%) had a short daytime nap. In 214 (39.3%) participants the Pittsburgh Sleep Quality Index score was >5, with a higher percentage in women (74·3%, p < 0.05). Antibody levels were associated with age (r = -0.178, p < 0.001), poor sleep quality (r = -0.094, p < 0.05), insomnia (r = -0.098, p < 0.05), and nap frequency per week (r = -0.098, p < 0.05), but after adjusting for confounders, only insomnia, gender, and age were independent determinants of antibody levels. It is important to emphasise that insomnia is associated with lower antibody levels against COVID-19 after vaccination.
Assuntos
COVID-19 , Coronavírus Relacionado à Síndrome Respiratória Aguda Grave , Distúrbios do Início e da Manutenção do Sono , Masculino , Feminino , Humanos , Pessoa de Meia-Idade , Duração do Sono , COVID-19/prevenção & controle , Vacinas contra COVID-19 , Vacina BNT162 , Estudos Prospectivos , VacinaçãoRESUMO
SARS-CoV-2 infection may result in severe pneumonia leading to mechanical ventilation and intensive care (ICU) treatment. Complement activation was verified in COVID-19 and implicated as a contributor to COVID-19 pathogenesis. This study assessed the predictive potential of complement factors C3a and C5b-9 for COVID-19 progression and outcome. We grouped 80 COVID-19 patients into severe COVID-19 patients (n = 38) and critically ill (n = 42) and subdivided into non-intubated (n = 48) and intubated (n = 32), survivors (n = 57) and non-survivors (n = 23). Results: A significant increase for C3a and C5b-9 levels was observed between: severely and critically ill patients (p < 0.001 and p < 0.0001), non-intubated vs intubated (p < 0.001 and p < 0.05), survivors vs non-survivors (p < 0.001 and p < 0.01). ROC analysis for the need for ICU treatment revealed a higher AUC for C5b-9 (0.764, p < 0.001) compared to C3a (AUC = 0.739, p < 0.01). A higher AUC was observed for C3a for the need for intubation (AUC = 0.722, p < 0.001) or mortality (AUC = 0.740, p < 0.0001) compared to C5b-9 (need for intubation AUC = 0.656, p < 0.05 and mortality AUC = 0.631, p = NS). Combining the two markers revealed a powerful prediction tool for ICU admission (AUC = 0.773, p < 0.0001), intubation (AUC = 0.756, p < 0.0001) and mortality (AUC = 0.753, p < 0.001). C3a and C5b-9 may be considered as prognostic tools separately or in combination for the progression and outcome of COVID-19.
RESUMO
RATIONALE: Changes in anti-SARS-CoV-2 defense immune subsets in patients treated with dexamethasone (DXM) for severe COVID-19 and their relation to disease outcomes are poorly understood. METHODS: Blood-lymphocyte subsets of 110 hospitalized COVID-19 patients were prospectively examined. A first sample was taken at enrollment and a second one 7-10 days later. Total B-, T-lymphocytes, CD4+, CD8+, T-regulatory (Treg), Natural-Killer (NK) and NK T-cells were counted using flow cytometry. RESULTS: At enrollment, patients with respiratory failure, characterized by DXM failure (intubation/death) or DXM success (hospital discharge) exhibited significantly fewer CD3+, CD4+ and CD8+ cells and B-lymphocytes compared to the control group (no respiratory failure/no DXM). At the time of treatment completion, the DXM-failure group exhibited significantly fewer CD3+, CD4+ and CD8+ cells, memory CD4+ and CD8+ T-lymphocytes, compared to the control and the DXM-success groups and fewer activated CD4+ T-lymphocytes, Tregs and NK cells compared to the control group. At the time of treatment completion, the number of all investigated lymphocyte subsets increased in the DXM-success group and was similar to those of the control group. NK cells significantly decreased over time in the DXM-failure group. CONCLUSION: The lymphocyte kinetics differ between DXM-treated and control COVID-19 patients and are associated with clinical outcomes.