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
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
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
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
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
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
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.
Assuntos
Antígenos HLA-B , Sequenciamento de Nucleotídeos em Larga Escala , Alelos , Éxons/genética , Genes MHC Classe I , Antígenos HLA-B/genética , HumanosRESUMO
INTRODUCTION: The Edmonton Frailty Scale was developed in Alberta (Canada). It has been applied in different scenarios, such as acute units, day hospitals, and outpatient care. There are no studies published describing the usefulness of this scale in Colombia. MATERIALS AND METHODS: A cross-sectional study and secondary diagnostic test analysis was designed with the objective of studying the criterion validity of the Edmonton Frail Scale using Fried's frailty criteria as standard. Patients 60 years old and over from the community were included. Patients with severe dementia, limited mobility, and unable to perform the tests were excluded. RESULTS: The study included 101 patients from the community in Floridablanca, Colombia. The mean age was 68.9 years, and 74% were women. The median walking speed was 1.1m/sec. According to the Fried's criteria, 46% were vigorous elderly, and the prevalence of frailty was 7.9%. Using the EFS, 78% were vigorous elderly, with a prevalence of frailty of 8.9%. Taking 6 or more points as a cut-off, the sensitivity of this scale was 75% and had a specificity of 88%. CONCLUSIONS: A similar frequency of frailty was found on applying the two measurement scales. It is important to highlight the multidimensional view of the Edmonton scale, complementing the data of the most physical and sarcopenia-centred phenotype of Fried's criteria.
Assuntos
Fragilidade/diagnóstico , Avaliação Geriátrica/métodos , Idoso , Idoso de 80 Anos ou mais , Colômbia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Introducción: en el tratamiento quirúrgico de la epicondilitis se han descrito varios procedimientos encaminados a resecar el origen del extensor carpi radialis brevis (ECRB). Un porcentaje de pacientes que reciben tratamiento quirúrgico continúa con dolor, siendo una posible causa la compresión del nervio interóseo posterior. Objetivo: describir el origen de las cabezas superficial y profunda del músculo supinador y la relación entre estas y el origen del ECBR a nivel del epicóndilo lateral. Métodos: disección de 18 codos de cadáveres frescos. Se disecaron los músculos que tiene origen en el epicóndilo lateral, con énfasis en las cabezas superficial y profunda del músculo supinador y su relación con el origen del ECRB y el ligamento colateral lateral ulnar (LCLU). Resultados: los orígenes de las cabezas superficial y profunda del músculo supinador son adyacentes entre sí, pero diferentes, en íntima relación con el origen de ECRB. La cabeza profunda se origina en la base del epicóndilo lateral superior al ecuador del capitellum, anterior al origen del ECRB. La cabeza superficial se origina en la base del epicóndilo lateral de 2 a 4 mm antero inferior al origen del ECRB y en la longitud del LCLU. Conclusiones: la relación anatómica del origen de las cabezas superficial y profunda del músculo supinador con el origen del ECRB y el LCUL, permitirían realizar su resección concomitante con la resección del ECRB en el tratamiento de la epicondilitis de manera segura(AU)
Introduction: several procedures are described in the epicondylitis surgical treatment to resect the origin of the carpi radialis brevis extensor. It is still painful for a percent of patients who receive surgical treatment. The compression of the posterior interosseous nerve is a possible cause. Objective: describe the origin of the superficial and deep heads of supinator muscle and the relationship between them and the origin of carpi radialis brevis extensor at lateral epicondyle. Methods: dissection of 18 fresh corpses elbows. The muscles that originate from the lateral epicondyle were dissected, emphasizing on the superficial and deep heads of supinator and its relation to the origin of carpi radialis brevis extensor and the lateral ulnar collateral ligament. Results: the origins of the superficial and deep heads of supinator are adjacent to each other but different, closely related to the origin of carpi radialis brevis extensor. Deep head originates at the base from the superior lateral epicondyle to the capitellum Ecuador, before the origin of carpi radialis brevis extensor. Head surface originates at the base of lateral epicondyle 2 to 4 mm below the origin of the anterior and carpi radialis brevis extensor and in the length of the lateral ulnar collateral ligament. Conclusions: the anatomical relationship of the origin of the superficial and deep heads of supinator to the origin of carpi radialis brevis extensor and lateral ulnar collateral ligament would allow for concomitant resection of the carpi radialis brevis extensor safely resection in the treatment of epicondylitis(AU)