RESUMEN
Objective: To observe the clinical effects of intranasal excision on nasal vestibular cyst under nasal endoscopy. Methods: Forty-two cases of nasal vestibular cyst diagnosed in the Department of Otorhinolaryngology Head and Neck Surgery, Tianjin Third Central Hospital between Feb. 2011 and Jan. 2016 were treated by intranasal excision under nasal endoscope. Results: All the 42 patients were cured without any complication. The rate of complete stripping was 78.6% (33/42), with operating time of (21.31±4.04) min and bleeding amount of (10.26±2.13) ml. During follow-up ranged from 6 months to 5 years, with the median follow-up time being 19.6 months, no post-operative recurrence and complication were found. Conclusion: Intranasal excision for nasal vestibular cyst under nasal endoscopy is an effective method, which can be widely used in hospitals.
Asunto(s)
Quistes/cirugía , Cirugía Endoscópica por Orificios Naturales/métodos , Enfermedades Nasales/cirugía , Nariz , Femenino , Humanos , Masculino , Cavidad NasalRESUMEN
HLA-B*55:02:09 and HLA-B*55:80 differ from HLA-B*55:02:01 by 1 single nucleotide substitution, respectively.
Asunto(s)
Alelos , Exones , Antígenos HLA-B/genética , Polimorfismo de Nucleótido Simple , Donantes de Tejidos , Sustitución de Aminoácidos , Pueblo Asiatico , Secuencia de Bases , Trasplante de Médula Ósea , Codón/química , Expresión Génica , Genotipo , Antígenos HLA-B/inmunología , Prueba de Histocompatibilidad , Humanos , Reacción en Cadena de la Polimerasa , Isoformas de Proteínas/genética , Isoformas de Proteínas/inmunología , Alineación de Secuencia , Análisis de Secuencia de ADNRESUMEN
HLA-C*08:128 shows a substitution C to T at position 704 when compared to HLA-C*08:01:01.
Asunto(s)
Alelos , Exones , Antígenos HLA-C/genética , Polimorfismo de Nucleótido Simple , Receptores de Trasplantes , Sustitución de Aminoácidos , Pueblo Asiatico , Secuencia de Bases , Codón/química , Expresión Génica , Genotipo , Antígenos HLA-C/inmunología , Trasplante de Células Madre Hematopoyéticas , Prueba de Histocompatibilidad , Humanos , Leucemia/genética , Leucemia/inmunología , Leucemia/patología , Leucemia/terapia , Reacción en Cadena de la Polimerasa , Alineación de Secuencia , Análisis de Secuencia de ADNRESUMEN
The KIR2DL2*00103 allele is different from KIR2DL2*00101 by a single nucleotide substitution at position 996 C>T.
Asunto(s)
Alelos , Donantes de Sangre , Exones , Mutación Puntual , Receptores KIR2DL2/genética , Pueblo Asiatico , Secuencia de Bases , Transfusión Sanguínea , Codón/química , ADN Complementario/genética , ADN Complementario/metabolismo , Humanos , Tipificación Molecular/métodos , Reacción en Cadena de la Polimerasa , Receptores KIR2DL2/inmunología , Alineación de Secuencia , Análisis de Secuencia de ADNRESUMEN
HLA-A*03:181 and HLA-A*03:229 differ from HLA-A*03:01:01:01 by one and three nucleotide substitutions, respectively.
Asunto(s)
Alelos , Exones , Antígeno HLA-A3/genética , Leucemia/genética , Mutación Puntual , Sustitución de Aminoácidos , Pueblo Asiatico , Secuencia de Bases , Trasplante de Médula Ósea , Codón , Genotipo , Antígeno HLA-A3/inmunología , Prueba de Histocompatibilidad , Humanos , Leucemia/inmunología , Leucemia/patología , Alineación de Secuencia , Análisis de Secuencia de ADN , Donantes de TejidosRESUMEN
HLA-B*46:01:11 has 219 G>A compared with HLA-B*46:01:01, and HLA-B*51:01:39 shows 561 G>A with HLA-B*51:01:01.
Asunto(s)
Alelos , Antígenos HLA-B/genética , Antígeno HLA-B51/genética , Polimorfismo de Nucleótido Simple , Pueblo Asiatico , Secuencia de Bases , Trasplante de Médula Ósea , Exones , Genotipo , Prueba de Histocompatibilidad , Humanos , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa , Análisis de Secuencia de ADN , Donantes de TejidosRESUMEN
HLA-C*08:01:10 differs from HLA-C*08:01:01 by a single non-coding change at nucleotide 339 G>A.
Asunto(s)
Alelos , Antígenos HLA-C/genética , Leucemia/genética , Pueblo Asiatico , HumanosRESUMEN
Allelic polymorphism and expression variation of killer cell immunoglobulin-like receptor (KIR) 3DL1 on natural killer (NK) cells differ among populations. To determine whether the phenotypic variants are due to KIR polymorphism, transcription or copy number, the allelic polymorphism, mRNA levels and antigen expression of KIR3DL1 were assessed in 162 individuals. We characterized 13 KIR3DL1 alleles, five of which were novel. In addition, 21 genotypes were identified. The correlation between the binding patterns of NK cells to anti-KIR3DL1 and KIR3DL1 alleles was also examined. NK cells with different 3DL1 alleles showed distinct binding levels to anti-KIR3DL1. The binding frequencies of NK cells to anti-KIR3DL1 were not accordant with their binding levels, but both associated with the allele copy numbers. The mRNA expression amounts of individuals with two copy alleles were higher than those of individuals with one copy allele. Our data indicate that both the allele copy number and polymorphism of KIR3DL1 influence the antigen expression on the NK-cell surface, but only the copy number was associated with mRNA expression.
Asunto(s)
Pueblo Asiatico/genética , Variación Genética , Receptores KIR3DL1/genética , Alelos , Expresión Génica , Frecuencia de los Genes , Humanos , Células Asesinas Naturales/inmunología , Polimorfismo Genético , Receptores KIR3DL1/metabolismo , Receptores KIR3DS1/genéticaRESUMEN
HLA-C*01:02:18 shows one nucleotide difference from that of HLA-C*01:02:01 by a single nucleotide substitution at position 474 C>T in exon 3.
Asunto(s)
Alelos , Pueblo Asiatico/genética , Antígenos HLA-C/genética , Prueba de Histocompatibilidad , Leucemia/genética , Reacción en Cadena de la Polimerasa/métodos , Análisis de Secuencia de ADN , Secuencia de Bases , Exones/genética , Humanos , Datos de Secuencia Molecular , Alineación de SecuenciaRESUMEN
HLA-A*33:03:11 differs from A*33:03:01 by one nucleotide substitution in exon 3 at position 531 G>A.
Asunto(s)
Alelos , Pueblo Asiatico/genética , Donantes de Sangre , Antígenos HLA-A/genética , Prueba de Histocompatibilidad , Reacción en Cadena de la Polimerasa/métodos , Análisis de Secuencia de ADN , Secuencia de Bases , Exones/genética , Sangre Fetal/metabolismo , Humanos , Datos de Secuencia Molecular , Alineación de SecuenciaRESUMEN
HLA-A*02:335 shows one nucleotide different from HLA-A*02:07:01 at position 173T>A and HLA-A*02:370 has a single nucleotide polymorphism at position 886 C>G compared with HLA-A*02:03:01.
Asunto(s)
Pueblo Asiatico/genética , Antígeno HLA-A2/genética , Alelos , Secuencia de Bases , China , ADN/genética , Exones , Prueba de Histocompatibilidad , Humanos , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa , Homología de Secuencia de Ácido NucleicoRESUMEN
HLA-DQB1*03:38 differs from HLA-DQB1*03:03:02:01 at nucleotide position 184 T>C in exon 2.
Asunto(s)
Pueblo Asiatico , Cadenas beta de HLA-DQ/genética , Polimorfismo de Nucleótido Simple , Alelos , Secuencia de Bases , Trasplante de Médula Ósea , Cromosomas Humanos Par 6 , Exones , Cadenas beta de HLA-DQ/inmunología , Prueba de Histocompatibilidad , Humanos , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa , Alineación de Secuencia , Análisis de Secuencia de ADN , Donantes de TejidosRESUMEN
HLA-C*01:61 allele was different from HLA-C*01:02:01 by a single nucleotide substitution at position 303 C>A.
Asunto(s)
Alelos , Pueblo Asiatico/genética , Antígenos HLA-C/genética , Prueba de Histocompatibilidad/métodos , Leucemia/genética , Reacción en Cadena de la Polimerasa/métodos , Análisis de Secuencia de ADN/métodos , Secuencia de Bases , China/etnología , Exones/genética , Humanos , Datos de Secuencia Molecular , Alineación de SecuenciaRESUMEN
Nucleotide sequence of HLA-C*07:02:25 allele was different from that of HLA-C*07:02:01:01 by a single nucleotide substitution at position 78C>G.
Asunto(s)
Alelos , Antígenos HLA-C/genética , Mutación Puntual , Pueblo Asiatico , China , Análisis Mutacional de ADN , Humanos , Leucemia/genética , Leucemia/terapia , Reacción en Cadena de la PolimerasaRESUMEN
The novel HLA-DQB1*06:43 allele differs from HLA-DQB1*06:01:01 in one nucleotide substitution at codon 73 in exon 2.
Asunto(s)
Exones/genética , Cadenas beta de HLA-DQ/genética , Mutación Puntual , Médula Ósea , Prueba de Histocompatibilidad , Donantes de TejidosRESUMEN
BACKGROUND: The Diego blood group system plays an important role in transfusion medicine. Genotyping of DI1 and DI2 alleles is helpful for the investigation into haemolytic disease of the newborn (HDN) and for the development of rare blood group databases. Here, we set up a polymerase chain reaction sequence-based typing (PCR-SBT) method for genotyping of Diego blood group alleles. STUDY DESIGN AND METHODS: Specific primers for exon 19 of the solute carrier family 4, anion exchanger, member1 (SLC4A1) gene were designed, and our PCR-SBT method was established and optimized for Diego genotyping. A total of 1053 samples from the Chinese Han population and the family members of a rare proband with DI1/DI1 genotype were investigated by the PCR-SBT method. An allele-specific primer PCR (PCR-ASP) was used to verify the reliability of the PCR-SBT method. RESULTS: The frequencies of DI1 and DI2 alleles in the Chinese Han population were 0.0247 and 0.9753, respectively. Six new single nucleotide polymorphisms (SNPs) were found in the sequenced regions of the SLC4A1 gene, and four novel SNPs located in the exon 19, in which one SNP could cause an amino acid alteration of Ala858Ser on erythrocyte anion exchanger protein 1. The genotypes for Diego blood group were identical among 41 selected samples with PCR-ASP and PCR-SBT. CONCLUSION: The PCR-SBT method can be used in Diego genotyping as a substitute of serological technique when the antisera is lacking and was suitable for screening large numbers of donors in rare blood group databases.
Asunto(s)
Alelos , Proteína 1 de Intercambio de Anión de Eritrocito/genética , Pueblo Asiatico/genética , Antígenos de Grupos Sanguíneos/genética , Tipificación y Pruebas Cruzadas Sanguíneas/métodos , Mutación , Exones , Genética de Población , Humanos , Reacción en Cadena de la Polimerasa , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADNRESUMEN
We surveyed 128 preschool children in a lead-polluted area in Shanghai to study the relationship between blood lead level and neuropsychological functions, assessed by age-appropriate psychological tests. The geometric means of blood lead level was 21.7 + -10.8 micrograms/dl. Of 47 children aged below 30 months, there was no significant difference in BSID indices between the high and low lead subjects, although the high lead children tended to have poorer development scores than the low lead ones. On the other hand, of 81 children older than 46 months, the WPPSI IQ scores showed highly significant negative correlation with blood lead level. Step-wise regression and multiple analysis of covariance techniques were employed to find out and control the confounding factors. Even when 21 non-lead variables were considered, the IQ difference between high and low lead groups remained statistically significant. We concluded that the children, especially those older than 46 months, in the area investigated, did suffer from lead toxicity causing impairment in intelligence development. We support the view that marginally higher lead level in children should be taken seriously.
