RESUMEN
HLA-DQB1*05:305 shows one single nucleotide substitution at position 664 compared with HLA-DQB1*05:03:01:01.
Asunto(s)
Alelos , Exones , Cadenas beta de HLA-DQ , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Secuencia de Bases , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Prueba de Histocompatibilidad/métodos , Cadenas beta de HLA-DQ/genética , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN/métodosRESUMEN
The Zhejiang Han population, a subgroup of the Southern Han ethnic group, resides in Zhejiang Province, situated on the southeast coast of China. In this study, we conducted HLA genotyping for 813 voluntary umbilical cord blood donors from the Zhejiang Han population, targeting 11 HLA loci, namely HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DRB3/4/5, HLA-DQA1, HLA-DQB1, HLA-DPA1, and HLA-DPB1, using the next-generation sequencing method. Our analysis of the alleles and haplotypes revealed a high degree of polymorphism within these loci. A total of 289 unique HLA alleles were identified, with the HLA-B locus exhibiting the most significant diversity, while HLA-DRB4 displayed the lowest variation. Due to the inherent limitations of the sequencing method, some unresolvable alleles in the specific loci, such as HLA-DRB1, HLA-DPA1, and HLA-DPB1, were assigned as G group designation. In our comprehensive analysis across all 11 HLA loci, a total of 1204 haplotypes were estimated. The distribution of these alleles was similar to those of the Chinese Southern Han population while highly different from the Caucasian population. These findings contribute to a deeper understanding of the genetic characteristics of HLA loci within the Chinese Southern Han population.
RESUMEN
HLA-A*11:01:117 differs from HLA-A*11:01:01:01 by a single nucleotide substitution at position 780 A>G.
Asunto(s)
Alelos , Exones , Antígeno HLA-A11 , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Antígeno HLA-A11/genética , Prueba de Histocompatibilidad/métodos , Polimorfismo de Nucleótido Simple , Secuencia de BasesRESUMEN
KEY POINT: The 1064-nm picosecond laser with holographic optics demonstrated significant efficacy in treating atrophic acne scars. BACKGROUND: Picosecond lasers with fractionated optics have enabled the development of a breakthrough skin rejuvenation method. The authors compared the fractionated, non-ablative neodymium-doped yttrium aluminum garnet 1064-nm picosecond laser with holographic optics and the fractional CO2 laser in treating atrophic acne scars. METHODS: One side of each patient's face was randomly allocated and treated with three sessions of the 1064-nm picosecond laser with holographic optics at 2-month intervals. In contrast, the other side was treated with the fractional CO2 laser. Participants were followed up 3 months after the final session. The primary outcome included the physicians' evaluation using the ECCA grading scale and a four-point scale to assess improvement. The patients' assessment of progress, their overall satisfaction and preferences, and the side effects were also evaluated. RESULTS: No significant difference was observed between the two lasers in terms of the mean ECCA scores after treatments (P = 0.209). The physicians' improvement assessment was more significant for the fractional CO2 laser (P = 0.001). The patients' evaluation of improvement and subjective satisfaction were consistent with physicians' four-point scale results. The picosecond laser side had fewer adverse effects (P < 0.001). CONCLUSION: The fractionated, non-ablative Nd: YAG 1064-nm picosecond laser with holographic optics and the fractional CO2 laser were effective and safe in treating atrophic acne scars. Significantly better clinical outcomes were observed with the fractional CO2 laser, whereas fewer adverse effects were noted with the 1064-nm picosecond laser with holographic optics.
RESUMEN
Perifolliculitis capitis abscedens et suffodiens, also known as dissecting cellulitis of the scalp, is a rare, chronic suppurative, inflammatory head hair follicle disease, which seriously affects the patient's quality of life. Clearly, clinical treatment varies widely and is somewhat challenging. We report a case of a 19-year-old male patient who had good results through surgery combined with photodynamic therapy. Surgery combined with photodynamic therapy for perifolliculitis capitis abscedens et suffodiens is effective and safe, especially for patients with poor responses to previous traditional treatments.
RESUMEN
Compared with HLA-DRB1*08:03:02:01, the alleles HLA-DRB1*08:03:13 and HLA-DRB1*08:119 each show one nucleotide substitution, respectively.
Asunto(s)
Nucleótidos , Humanos , Alelos , Cadenas HLA-DRB1/genéticaRESUMEN
Polymorphism of killer-cell immunoglobulin-like receptors (KIRs) and their HLA class I ligands impacts the effector activity of cytotoxic NK cell and T cell subsets. Therefore, understanding the extent and implications of KIR and HLA class I genetic polymorphism across various populations is important for immunological and medical research. In this study, we conducted a high-resolution investigation of KIR and HLA class I diversity in three distinct Chinese ethnic minority populations. We studied the She, Yugur, and Tajik, and compared them with the Zhejiang Han population (Zhe), which represents the majority Southern Han ethnicity. Our findings revealed that the Tajik population exhibited the most diverse KIR copy number, allele, and haplotype diversity among the four populations. This diversity aligns with their proposed ancestral origin, closely resembling that of Iranian populations, with a relatively higher presence of KIR-B genes, alleles, and haplotypes compared with the other Chinese populations. The Yugur population displayed KIR distributions similar to those of the Tibetans and Southeast Asians, whereas the She population resembled the Zhe and other East Asians, as confirmed by genetic distance analysis of KIR. Additionally, we identified 12.9% of individuals across the three minority populations as having KIR haplotypes characterized by specific gene block insertions or deletions. Genetic analysis based on HLA alleles yielded consistent results, even though there were extensive variations in HLA alleles. The observed variations in KIR interactions, such as higher numbers of 2DL1-C2 interactions in Tajik and Yugur populations and of 2DL3-C1 interactions in the She population, are likely shaped by demographic and evolutionary mechanisms specific to their local environments. Overall, our findings offer valuable insights into the distribution of KIR and HLA diversity among three distinct Chinese ethnic minority populations, which can inform future clinical and population studies.
Asunto(s)
Pueblos del Este de Asia , Minorías Étnicas y Raciales , Grupos Minoritarios , Receptores KIR , Humanos , Alelos , China , Pueblos del Este de Asia/genética , Etnicidad/genética , Genotipo , Receptores KIR/genéticaRESUMEN
The novel HLA-DPA1*02:02:15 allele differs from HLA-DPA1*02:02:02:01 by one nucleotide substitution in exon 1.
Asunto(s)
Cadenas alfa de HLA-DP , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Alelos , Prueba de Histocompatibilidad , Cadenas alfa de HLA-DP/genéticaRESUMEN
Compared to the HLA-DQB1*03:03:02:01, the HLA-DQB1*03:477 and HLA-DQB1*03:487 alleles each show one single nucleotide substitution.
Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Nucleótidos , Humanos , Secuencia de Bases , Alelos , Cadenas beta de HLA-DQ/genéticaRESUMEN
KIR3DP1*00604 differs from KIR3DP1*0060101 by one single nucleotide substitution G > C at position 252.
Asunto(s)
Receptores KIR , Humanos , Alelos , China , Receptores KIR/genética , Pueblos del Este de Asia/genéticaRESUMEN
HLA-DQA1*01:04:04 differs from HLA-DQA1*01:04:01:01 by a single nucleotide substitution at position 225 C > T.
Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Alelos , Análisis de Secuencia de ADN , Cadenas alfa de HLA-DQ/genéticaRESUMEN
Compared with HLA-A*33:03:01:01, the HLA-A*33:03:55 allele shows one nucleotide substitution at position 6.
Asunto(s)
Pueblo Asiatico , Pueblos del Este de Asia , Humanos , Alelos , Pueblo Asiatico/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Antígenos HLA-A/genéticaRESUMEN
HLA-C*08:232 differs from HLA-C*08:01:01:01 by a single nucleotide substitution at position 629 A > G.
Asunto(s)
Genes MHC Clase I , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Alelos , Secuenciación de Nucleótidos de Alto Rendimiento , NucleótidosRESUMEN
Compared with HLA-B*40:01:02:01, the alleles HLA-B*40:495 and HLA-B*40:512 each show one nucleotide substitution, respectively.
Asunto(s)
Genes MHC Clase I , Antígenos HLA-B , Humanos , Alelos , Antígenos HLA-B/genética , Secuenciación de Nucleótidos de Alto Rendimiento , NucleótidosRESUMEN
Osseointegration is vital for the success of non-degradable implants like those made of titanium alloys. In order to promote osseointegration, implants are made porous, providing space for bone ingrowth. Despite extensive optimization of the pore geometry and porosity, bone ingrowth into implants is still marginal; further modification to promote bone ingrowth as well as osseointegration becomes paramount. In this study, a pH neutral bioactive glass with the composition of 10.8% P2O5-54.2% SiO2-35% CaO (mol%; hereinafter referred to as PSC) was successfully coated on 3D-printed porous Ti6Al4V scaffolds using an in situ sol-gel method. This PSC coating is strongly bonded to the substrate and quickly induces the formation of hydroxyapatite on the scaffold surface upon contact with body fluid. In vitro, the PSC-coated Ti6Al4V scaffolds showed superior biocompatibility, cell proliferation promotion, cell adhesion, osteogenic differentiation and mineralization compared to their bare counterparts, implying better osseointegration. In vivo experiments confirmed this expectation; after being implanted, the coated scaffolds had more bone ingrowth and osseointegration, and consequently, higher push-out strength was achieved, proving the validity of the proposed concept in this study. In conclusion, PSC coating on 3D-printed porous Ti6Al4V scaffolds can improve osteogenesis, bone ingrowth, and osseointegration. Together with the versatility of this in situ sol-gel coating method, titanium alloy implants with better biological performances may be developed for immediate clinical applications.
Asunto(s)
Oseointegración , Osteogénesis , Porosidad , Titanio/química , Dióxido de Silicio , Aleaciones , Impresión Tridimensional , Concentración de Iones de HidrógenoRESUMEN
HLA-B*50:01:17 shows one nucleotide substitution at position 861 when compared with HLA-B*50:01:01:01.
Asunto(s)
Genes MHC Clase I , Antígenos HLA-B , Humanos , Secuencia de Bases , Alelos , Antígenos HLA-B/genética , Reacción en Cadena de la Polimerasa , Análisis de Secuencia de ADN , Prueba de HistocompatibilidadRESUMEN
OBJECTIVE: To detect loss of heterozygosity (LOH) at human leukocyte antigen (HLA) loci in a Chinese patient with leukemia after haploidentical hematopoietic stem cell transplantation. METHODS: HLA genotyping was carried out on peripheral blood, hair follicle and buccal swab samples derived from the patient after the transplantation as well as peripheral blood samples from his parents by using PCR-sequence specific oligonucleotide probe method and PCR-sequence based typing method. Short tandem repeat (STR) loci were detected by using a 23 site STR assay kit and a self-developed 6 STR loci assay for the HLA regions. RESULTS: After the transplantation, the HLA genotype of the peripheral blood sample of the patient was identical to his father. The patient was HLA-A*02:01,24:02, C*03:03,03:04, B*13:01,15:01, DRB1*08:03,12:02, DQB1*03:01,06:01 for his hair follicle specimen. However, homozygosity of the HLA loci was found in his buccal swab sample. Only the HLA-A*24:02-C*03:03-B*15:01-DRB1*08:03-DQB1*06:01 haplotype from his father's was present, while the HLA-A*02:01-C*03:04-B*13:01-DRB1*12:02-DQB1*03:01 haplotype from his mother was lost. After the transplantation, the alleles of the 23 STR sites in the patient's peripheral blood sample were consistent to his father, with no allelic loss detected in his buccal swab sample. However, at least 4 STR loci in the HLA region were lost in his buccal swab sample. CONCLUSION: LOH at the HLA loci has been detected in the buccal swab sample of a patient with leukemia who received haploidentical hematopoietic stem cell transplantation.
Asunto(s)
Antígenos HLA , Leucemia , Antígenos HLA/genética , Antígenos HLA-A/genética , Antígenos de Histocompatibilidad Clase I/genética , Humanos , Leucemia/genética , Pérdida de HeterocigocidadRESUMEN
In this study, we evaluate the association between biometrics and intraocular pressure (IOP) during femtosecond laser-assisted cataract surgery (FLACS) in normal patients and those with open-angle glaucoma (OAG). A retrospective cross-sectional study was conducted. A total of 103 patients who had received elective FLACS were enrolled, and those with OAG who received FLACS were further divided into a subgroup. The perioperative IOP of FLACS was measured before, during, and after the suction procedure. Demographic data and preoperative biometrics were collected from the medical records. The generalized linear model was applied to yield the adjusted odds ratio (aOR) and corresponding 95% confidence interval (CI) of each biometric for the IOP elevation in the whole group and the OAG subgroup. The mean preoperative IOP was 20.96 ± 4.79 mmHg, which rose to 55.37 ± 11.58 mmHg during suction, and decreased to 23.75 ± 6.42 mmHg after suction; the IOP both during and after suction was significantly higher than the presuction IOP (both p < 0.001). The mean IOP elevation was 34.41 ± 9.70 mmHg in the whole study population, and the difference in IOP elevation between OAG and nonglaucoma subgroups was not significant (p = 0.159). In the whole group, the presuction IOP, postdilated pupil size (PPS), and central corneal thickness (CCT) were positively corrected to higher IOP elevation (all p < 0.05), while axial length (AL) was negatively related to IOP elevation (aOR: 0.020, 95% CI: 0.008-0.699, p = 0.042). For the OAG subgroup, the longer AL was more significantly correlated to lower IOP elevation compared to those without glaucoma (aOR: 0.231, 95% CI: 0.106-0.502, p = 0.006). In conclusion, presuction IOP, PPS, and CCT are related to higher IOP during FLAC, while the AL is negatively correlated to the IOP elevation in FLACS, especially for patients with OAG. Reviewing these parameters before FLACS may enable physicians to find patients who are at risk of IOP elevation.
RESUMEN
Efficient genetic transformation has the potential to advance research and breeding in watermelon (Citrullus lanatus), but regeneration from tissue culture remains challenging. Previous work showed that expressing a fusion of two interacting transcription factors, GROWTH-REGULATING FACTOR4 (GRF4) and GRF-INTERACTING FACTOR1 (GIF1), improved regeneration in wheat (Triticum aestivum). By overexpressing a chimeric fusion of ClGRF4 and ClGIF1, we achieved highly efficient transformation in watermelon. Mutating the mi396 microRNA target site in ClGRF further boosted the transformation efficiency up to 67.27% in a genotype-independent manner. ClGRF4-GIF1 can also be combined with clustered regularly interspaced palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) genome editing tools to achieve highly efficient gene editing in watermelon, which we used to successfully create diploid seedless watermelon. This research thus puts forward a powerful transformation tool for future watermelon research and breeding.
Asunto(s)
Citrullus , Edición Génica , Sistemas CRISPR-Cas/genética , Citrullus/genética , Genotipo , Fitomejoramiento , Triticum/genéticaRESUMEN
Compared with HLA-B*46:01:01:01, the alleles HLA-B*46:80 and HLA-B*46:81 each show one nucleotide substitution, respectively.