RESUMO
Two different single nucleotide substitutions in intron 2 give rise to novel HLA-DQB1*03:02:01 alleles.
Assuntos
Alelos , Cadeias beta de HLA-DQ , Íntrons , Humanos , Teste de Histocompatibilidade , Cadeias beta de HLA-DQ/genética , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Two nucleotide substitutions in intronic regions give rise to the novel alleles: HLA-B*35:01:01:39 and -B*35:03:01:32.
Assuntos
Genes MHC Classe I , Antígenos HLA-B , Humanos , Alelos , Antígenos HLA-B/genética , Íntrons , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
HLA-DPA1*02:01:25 differs from DPA1*02:01:01:02 by a synonymous transition in exon 2.
Assuntos
Cadeias alfa de HLA-DP , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Cadeias alfa de HLA-DP/genética , Éxons/genéticaRESUMO
Seven different single nucleotide substitutions in non-coding regions gave rise to novel HLA-DPA1*01:03:01 variants.
Assuntos
Cadeias alfa de HLA-DP , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Cadeias alfa de HLA-DP/genética , Teste de HistocompatibilidadeRESUMO
Three nucleotide substitutions in intronic regions give rise to the novel alleles: HLA-DQB1*03:01:01:54, -DQB1*03:01:01:56, -DQB1*03:01:01:58.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Cadeias beta de HLA-DQ/genética , ÍntronsRESUMO
Characterization by next-generation sequencing of four novel HLA alleles: C*17:03:01:07, C*16:01:01:39, B*15:17:01:07, and B*44:03:01:57.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Nucleotídeos , Humanos , Regiões 3' não Traduzidas , AlelosRESUMO
OBJECTIVES: To determine the incidence of cut-out, cut-in, cut-through, Z-effect, and reverse Z-effect in two cephalomedullary nail (CMN) systems: one with single cephalic screw fixation and the other with dual-screw fixation using a lag screw and an anti-rotation screw. METHODS: A retrospective study from a cohort of patients was conducted between January 2017 and August 2019 in patients with intertrochanteric fractures treated with osteosynthesis using CMN. RESULTS: One hundred ninety-six patients with intertrochanteric fractures who met the inclusion criteria were recruited. The median age was 81 years [interquartile range (IQR) 12]. Seventy-six percent had fractures classified as Orthopaedic Trauma Association/Arbeitsgemeinschaft für Osteosynthesefragen (OTA/AO) 31A2. Twenty-one mechanical complications occurred, 8.7% (17) was cut-out with a single cephalic screw CMN and 2% (4) was Z-effect with a dual-screw CMN non-integrated. The median tip-apex distance (TAD) was 19.4 mm (IQR 10.8) in patients who experienced cut-out and 19 mm (IQR 10) in those who experienced Z-effect. The median time to cut-out occurrence was 39,5 days (IQR 47,5), while the median time to Z-effect was 90 days (IQR 86). CONCLUSIONS: The incidence of osteosynthesis failure using CMN is more frequent in patients treated with a single cephalic screw CMN. LEVEL OF EVIDENCE: Therapeutic, Level III.
Assuntos
Fixação Intramedular de Fraturas , Fraturas do Quadril , Humanos , Idoso de 80 Anos ou mais , Estudos Retrospectivos , Pinos Ortopédicos/efeitos adversos , Fixação Intramedular de Fraturas/efeitos adversos , Fraturas do Quadril/diagnóstico por imagem , Fraturas do Quadril/cirurgia , Fraturas do Quadril/etiologia , Parafusos Ósseos/efeitos adversos , Resultado do TratamentoRESUMO
HLA-DQA1*05:71, the first HLA-DQA1 allele with Aspartic Acid at residue 208 in the transmembrane domain.
Assuntos
Ácido Aspártico , Humanos , Ácido Aspártico/genética , Alelos , Análise de Sequência de DNA , Cadeias alfa de HLA-DQ/genéticaRESUMO
The novel HLA-DQB1*03:02:01:14 was likely generated by a recombination event between DQB1*03:02:01:01 and DQB1*03:03:02:01.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Recombinação Genética , Humanos , Alelos , Cadeias beta de HLA-DQ/genéticaRESUMO
Increasing evidence indicates that the brain predicts sensory input based on past experiences, importantly constraining how we experience the world. Despite a growing interest on this framework, known as predictive coding, most of such approaches to multiple psychological domains continue to be theoretical or primarily provide correlational evidence. We here explored the neural basis of predictive processing using noninvasive brain stimulation and provide causal evidence of frequency-specific modulations in humans. Participants received 20 Hz (associated with top-down/predictions), 50 Hz (associated with bottom-up/prediction errors), or sham transcranial alternating current stimulation on the left dorsolateral prefrontal cortex while performing a social perception task in which facial expression predictions were induced and subsequently confirmed or violated. Left prefrontal 20 Hz stimulation reinforced stereotypical predictions. In contrast, 50 Hz and sham stimulation failed to yield any significant behavioral effects. Moreover, the frequency-specific effect observed was further supported by electroencephalography data, which showed a boost of brain activity at the stimulated frequency band. These observations provide causal evidence for how predictive processing may be enabled in the human brain, setting up a needed framework to understand how it may be disrupted across brain-related conditions and potentially restored through noninvasive methods.
Assuntos
Encéfalo , Estimulação Transcraniana por Corrente Contínua , Humanos , Encéfalo/fisiologia , Eletroencefalografia/métodos , Córtex Pré-Frontal Dorsolateral , Córtex Pré-Frontal/fisiologiaRESUMO
Two transitions in intronic regions give rise to the novel alleles: HLA-DQB1*05:02:01:13 and HLA-DQB1*05:02:01:14.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Cadeias beta de HLA-DQ/genética , ÍntronsRESUMO
A missense nucleotide substitution in codon -17 in the leader peptide results in the novel HLA-DRB1*04:354 allele.
Assuntos
Nucleotídeos , Valina , Humanos , Cadeias HLA-DRB1/genética , Alelos , Valina/genética , Éxons/genéticaRESUMO
The failure to identify HLA null alleles in bone marrow transplantation could be life-threatening because this could result in an HLA mismatch with the ability to trigger the graft-vs-host disease (GVHD) and to reduce patient's survival. In this report we describe the identification and characterization of the novel HLA-DPA1*02:66:02N allele with a non-sense codon in exon 2. This new allele was discovered in two unrelated bone marrow donors during routine HLA-typing using next-generation sequencing (NGS). DPA1*02:66:02N is homologous to DPA1*02:01:01:03 with a single nucleotide difference in exon 2, codon 50, where the replacement of C located at genomic position 3825 by T, causes the formation of a premature stop codon (TGA), resulting in a null allele. This description illustrates the benefits of HLA typing by NGS since it permits to reduce ambiguities, identify new alleles, analyze multiple HLA loci and improve transplantation outcome.
Assuntos
Códon sem Sentido , Cadeias alfa de HLA-DP , Humanos , Alelos , Cadeias alfa de HLA-DP/genética , Éxons/genética , Códon , Teste de Histocompatibilidade/métodosRESUMO
A synonymous substitution in exon 2 and intronic insertion results in the novel HLA-DQA1*01:04:07 allele.
Assuntos
Antígenos HLA-DQ , Humanos , Antígenos HLA-DQ/genética , Alelos , Cadeias alfa de HLA-DQ/genética , ÉxonsRESUMO
A nonsynonymous nucleotide substitution in exon 1 results in the novel HLA-DQB1*03:493 allele.
Assuntos
Ácido Glutâmico , Sinais Direcionadores de Proteínas , Humanos , Alelos , Ácido Glutâmico/genética , Sequência de Bases , Cadeias beta de HLA-DQ/genéticaRESUMO
The novel HLA class I allele, HLA-B*49:78, was detected in a Spanish Caucasian individual.