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Objective To analyze the distribution of pathogens in the genital tract of infertile female,and comparing traditional methods with simultaneous amplification and testing (SAT) in the detection of UU,CT,NG and MG.Methods 467 female infertility patients were selected from the reproductive center of Suzhou Hospital Affiliated to Nanjing Medical University between June and September 2016 to analyze the distribution of UU,CT,MG and NG.The age was between 20 to 48 years old (mean 31.52±6.83 years old).352 cases of female patients with assisted reproductive technology were selected,aged from 21 to 46 years old (mean 30.67±6.67 years old).The swabs were tested by traditional methods or SAT.The sensitivity and specificity of the methods in detecting the pathogens were evaluated according to the experimental results.Results Among the 467 infertile women,the number of UU positive cases was the highest,the positive rate was 62.53% (292/467),the positive rate of CT was 1.93% (9/467) and the positive rate of NG was 0.21% (1/467),and the positive rate of MG was 1.71% (8/467).UU infection rate was higher in infertile women than normal control group 23.81% (25/105) (x2 =52.01,P<0.01).352 cases of female patients with assisted reproductive technology were selected for further analysis.For UU detection,the positive rate of swab samples detected by liquid culture was 48.9%,while the positive rate detected by SAT was 63.9%.Obviously the positive rate of SAT was higher than that of liquid culture.Swab culture and SAT results were analyzed by paired x2 test (x2 =41.93,P<0.01).The positive rate of CT SAT was 1.71%,and the positive rate of CT-latex method was 0.28 %.There was significant difference between CT latex method and SAT (Fisher exact probabilistic method statistical analysis,P<0.005),which indicated that SAT method had a higher sensitivity.The positive rate (1.7 %) and sensitivity (100%) of SAT were also higher than that of traditional method.Conclusion UU was the most common pathogen in female reproductive tract pathogens,followed by CT and MG.The SAT method has higher sensitivity than the conventional method in detecting of UU and CT.
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Objective@#To investigate the prevalence of Ureaplasma urealyticum (UU) infection in infertile men, its influence on routine semen parameters and the distribution of antisperm antibody (AsAb) and its types in infertile patients with UU infection.@*METHODS@#We detected the positive rate of UU infection, semen parameters, and the distribution of AsAb and its types in 662 infertile men and 25 normal fertile male controls followed by comparison of the obtained data between the two groups of subjects.@*RESULTS@#The positive rate of UU infection was significantly higher in the infertile men than in the normal controls (52.87% [350/662] vs 16.00% [4/25], χ2 = 11.68, P 0.05) and AsAb IgA, IgM and IgG in the seminal plasma, or in the percentages of serum AsAb IgM (16.9% vs 20.5%, χ2 = 1.22, P >0.05) and IgG (32.7% vs 28.9%, χ2 = 0.99, P >0.05) except in that of serum AsAb IgA (23.6% vs 17.0%, χ2 = 4.03, P <0.05).@*CONCLUSIONS@#The UU infection rate is high in infertile males, which decreases the semen volume, total sperm count, motile sperm concentration and percentage of progressively motile sperm and increases the positive rate of serum AsAb IgA.
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Humanos , Masculino , Anticuerpos Antibacterianos , Infertilidad Masculina , Alergia e Inmunología , Microbiología , Semen , Recuento de Espermatozoides , Espermatozoides , Alergia e Inmunología , Infecciones por Ureaplasma , Diagnóstico , Alergia e Inmunología , Ureaplasma urealyticum , Alergia e InmunologíaRESUMEN
Objective@#Sperm DNA fragmentation (SDF) is widely used to predict male infertility and the methods of detecting SDF are varied. This study aimed to compare two methods of SDF detection and investigate the correlation between SDF and sperm quality.@*METHODS@#Using sperm chromatin structure assay (SCSA) and sperm chromatin dispersion test (SCD), we detected SDF in 108 semen samples collected in the Center of Reproduction and Genetics of Suzhou Municipal Hospital. We compared the results of the two methods and analyzed the correlations of SDF routine semen parameters, sperm morphology and the age of the patients.@*RESULTS@#A significant consistency was found in the SDF index (DFI) between the two methods (P<0.01). The DFI was correlated negatively with sperm motility, the percentage of progressively motile sperm, and that of morphologically normal sperm (P <0.01), but positively with the teratozoospermia index (P <0.01 in SCSA and P <0.05 in SCD). The DFI measured by SCSA showed a significantly positive correlation with the patients' age (P <0.01), but not that obtained by SCD.@*CONCLUSIONS@#The results of both SCSA and SCD play an important role in predicting sperm quality. As a clinical index, the DFI has a predictive value for male infertility. However, the results of different detecting methods vary widely, which calls for further studies on their standardization.
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Humanos , Masculino , Cromatina , Genética , Fisiología , Fragmentación del ADN , Infertilidad Masculina , Diagnóstico , Semen , Fisiología , Análisis de Semen , Motilidad Espermática , Espermatozoides , FisiologíaRESUMEN
The corneal transparency is one of the important basic conditions for realizing normal physiological functions of visual organs. Also corneal endothelial cells are important conditions for maintaining normal corneal transparency. Therefore, only to ensure the morphology and physiological integrity of the corneal endothelial, can have normal vision. However, intraocular surgeries inevitably cause damage to corneal endothelial cells. This paper will review the effects of glaucoma surgery on corneal endothelial cells.
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AIM:To study the visual acuity and refractive status of students pupils and middle school students in Shenzhen, and to provide a scientific basis for the prevention and control of myopia. METHODS:A cluster sampling method was used to select five primary school students(6 737) and three junior middle school students(1 925) from Shenzhen. The visual acuity, anterior segment, fundus, eye position, and refractive status were measured. Information on associated factors for poor vision were also obtained using a questionaire. The risk factors of poor vision and the rate of myopia between grade or gender were analysed by Chi-square test. RESULTS:The rate of poor vision was 67. 0%. Female, family history of high myopia, long time of continuous look near, short time of outdoor activities were the main risk factors. The rate of emmetropia, hyperopia, astigmatism and myopia were 15. 1%, 11. 3%, 11. 0% and 62. 6% respectively. Emmetropia, hyperopia and astigmatism incidenece rate decreased with age growing, but myopia incidence rate was increased. There were significant differences between adjacent two grades in myopia(χ2=7. 338-45. 018, P CONCLUSION:The rate of poor vison is pretty high in students of Shenzhen aged between 5 to 16 years old, and myopia is the main reason. The development rate of myopia is increased with age. Early management of myopia may play an important role in controlling poor vision in students.
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<p><b>OBJECTIVE</b>To study the application value of normal sperm morphology on the outcomes of classic in vitro fertilization and embryo transfer (IVF-ET).</p><p><b>METHODS</b>This study included 659 infertile couples admitted to our center for IVF-ET. Based on the percentage of morphologically normal sperm (MNS), we divided the patients into groups A (n = 112, MNS < 2%), B (n = 180, MNS > or = 2 - < 4%), C (n = 74, MNS > or = 4 - < 5%), and D (n = 293, MNS > or = 5%), and compared the rates of fertilization, normal fertilization, embryos obtained, biochemical pregnancy, clinical pregnancy, implantation, and live birth among different groups.</p><p><b>RESULTS</b>The mean fertilization rate was significantly higher in groups C (71.90%) and D (72.89%) than in A (57.97%) and B (63.29%) (P < 0.05), with no remarkable differences either between A and B (P > 0.05) or between C and D (P > 0.05). The normal fertilization rate was also significantly higher in group D (57.16%) than in A (46.52%) and B (50.89%) (both P < 0.05) as well as in C (54.67%) than in A (P < 0.05). The rate of embryos obtained, too, was markedly higher in group D (55.62%) than in B (45.75%) (P < 0.05), but none with remarkable difference from other groups (all P > 0.05). There were no statistically significant differences among the four groups in the rates of biochemical pregnancy, clinical pregnancy, implantation, abortion, and live birth (all P > 0.05).</p><p><b>CONCLUSION</b>The rate of MNS had some influence on IVF-ET, and 5% MNS exhibited a higher value than 4% MNS in predicting the outcomes of IVF.</p>
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Adulto , Femenino , Humanos , Masculino , Embarazo , Implantación del Embrión , Fertilización In Vitro , Resultado del Embarazo , Estudios Retrospectivos , Espermatozoides , Biología CelularRESUMEN
<p><b>OBJECTIVE</b>To evaluate histopathologic examination of the testis tissue from testicular sperm aspiration (TESA).</p><p><b>METHODS</b>We analyzed the results of inverted microscopy and histopathologic examination of 96 samples of testis tissue from TESA, and compared the accuracy of the two methods in detecting sperm in the testis tissue.</p><p><b>RESULTS</b>Among the 11 cases in which sperm was found by inverted microscopy, 9 were confirmed by histopathologic examination, and among the 57 cases in which sperm was not detected by inverted microscopy, 11 (19.3%) were found with sperm by histopathologic examination. Histopathologically, the cases in which sperm was not found by inverted microscopy included Sertoli-cell-only syndrome (n = 34), maturation arrest (n = 12) and hypospermatogenesis (n = 11).</p><p><b>CONCLUSION</b>Histopathologic examination may reveal sperm in the TESA testis tissue proved to be sperm-absent by microscopy, and thus offer valuable information for a second testicular sperm retrieval.</p>
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Adulto , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Azoospermia , Patología , Recuento de Espermatozoides , Recuperación de la Esperma , Testículo , PatologíaRESUMEN
PURPOSE: The purpose of this study was to report an exceptional case of a postponed closure of a postoperative macular hole. METHODS: A 60-year-old woman received a diagnosis of idiopathic macular hole after she suffered decreased vision in her left eye for 3 weeks. She underwent a pars plana vitrectomy, fluid-air exchange, and room air tamponade with face down positioning for 5 days, without internal limiting membrane peeling. Optical coherence tomography scans were performed at 3 days, 3 months, and 6 months after surgery. RESULTS: Macular hole did not achieve closure until 6 months after surgery. CONCLUSION: Postponed closure in a case of a postoperative macular hole is rare. This report shows that idiopathic macular hole, which does not close immediately after surgery, still has the possibility to achieve closure.
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<p><b>OBJECTIVE</b>To screen for genetic mutations in families featuring non-syndromic hearing loss.</p><p><b>METHODS</b>Sixteen families with non-syndromic hearing loss were interviewed to identify medical histories by a questionnaire. Audiological and neurological examinations were conducted for all families. Coding regions of GJB2 and 12S rRNA genes were amplified and sequenced.</p><p><b>RESULTS</b>Of the 17 patients with sensorineural hearing loss, 3 were homozygous mutation for GJB2 235 delC, 1 was 235 delC heterozygous mutation, 1 was 235 delC+299_300 delAT compound heterozygous mutation, and 6 were 79G>A+341G>A heterozygosis in cis mutation. No 1555A>G mutation of mitochondrial DNA (mtDNA) was found in the 16 families.</p><p><b>CONCLUSION</b>The incidence of mtDNA 12S rRNA 1555A>G mutation in Jiangsu province may be lower than the average across China. Mutations of GJB2 genes may account for as much as 64.7% of non-syndromic hearing loss in this study. Screening for such mutations and genetic counseling may play an important role in the prevention of hereditary hearing loss.</p>
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Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Secuencia de Bases , Conexina 26 , Conexinas , Genética , ADN Mitocondrial , Genética , Predisposición Genética a la Enfermedad , Pérdida Auditiva , Genética , Heterocigoto , Homocigoto , Datos de Secuencia Molecular , Mutación , Linaje , ARN Ribosómico , GenéticaRESUMEN
Background Glaucoma is primarily characterized by the damage of retinal ganglion cells.The macular ganglion cell complex (GCC)thickness can be quantitatively measured using spectral domain optical coherence tomography(SD-OCT). Objective This clinical study was to explore the macular GCC thickness change in primary open-angle glaucoma (POAG) patient with SD-OCT. Methods A serial case-controlled study was designed.A total 101 eyes of 101 POAG patients and 41 normal eyes of 41 age- and refract power-matched normal subjects were cnrolled in the study.POAG patients were assigned to normal perimetry POAG group,early stage POAG group,advanced POAG group and late stage POAG group.Average macular GCC thickness(GCC-Avg),superior GCC thickness(GCC-Sup) and inferior GCC thickness (GCC-Inf)of subjects were measured by SD-OCT and compared among POAG patients and normal controls.Peripapillary retinal nerve fiber layer(RNFL) thickness was measured with time domain OCT(TD-OCT).The correlation between GCC thickness with RNFL thickness or mean deviation(MD) of perimetry were evaluated and analyzed.Informed consent was obtained from each patient prior to entering this study.Results GCC-Avg thickness,GCC-Sup thickness and GCC-Inf thickness were significantly decreased in the normalperimetry POAG group and early stage POAG group compared with the normal control group (GCC-Avg:t =5.411,10.247,P < 0.01 ; GCC-Sup:t =6.171,9.484,P< 0.01 ; GCC-Inf:t =5.281,8.592,P < 0.01 ).Also,GCC-Avg thickness,GCC-Sup thickness and GCC-Inf thickness were significantly decreased in the advanced POAG group compared with the early stage POAG group ( GCC-Avg:t =4.246,P<0.01 ; GCC-Sup:t - 2.419,P - 0.019 ; GCC-Inf:t =4.636,P<0.01 ),and GCC-Avg thickness,GCC-Sup thickness and GCC-Inf thickness were significantly decreased in the late stage POAG group compared with the advanced POAG group (GCC-Avg:t=2.095,P=0.040;GCC-Sup:t=2.756,P<0.01:GCC-Inf:t =2.018,P =0.040 ).The positive correlations were seen between GCC-Avg thickness,GCC-Sup thickness,GCC-Inf thickness and RNFL-Avg thickness,RNFL-Sup thickness,RNFL-Inf thickness respectively( r =0.802,0.825,0.856,P < 0.01 ).MD value of perimetry was positive correlated with GCC-Avg thickness in POAG patients ( r =0.601,P < 0.01 ). Conclusions SD-OCT can quantitatively measure and differentiate the GCC thickness in POAG patients.The GCC thickness gradually decreases with the development of POAG.There exist a well correlation between visual field defect and RNFL thinning.
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<p><b>OBJECTIVE</b>To detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects.</p><p><b>METHOD</b>MLPA P250 kit was used to detect 22q11 microdeletion in 100 cases of sporadic congenital heart defects including 40 fetuses and 60 patients diagnosed by ultrasound.</p><p><b>RESULT</b>Two cases from the fetuses and 1 case from the patients were found to have 22q11 microdeletion.</p><p><b>CONCLUSION</b>Three cases had 22q11 microdeletion in the congenital heart defects.</p>
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Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Deleción Cromosómica , Cromosomas Humanos Par 22 , Cardiopatías Congénitas , Diagnóstico , Genética , Técnicas de Amplificación de Ácido Nucleico , MétodosRESUMEN
<p><b>OBJECTIVE</b>To investigate the mutation frequency in 7 mutation hot-spots of deafness gene in southern Jiangsu province and verify the performance of the SNaPshot technology platform, designed for genetic screening of non-syndromic hearing loss (NSHL) in Chinese.</p><p><b>METHODS</b>One hundred and twenty-five NSHL patients were enrolled. Amplification of 235delC, 299-300delAT in GJB2 gene, IVS7-2A>G, 2168 A>G in SLC26A4 gene, and 1555A>G, 7445 A>G and 3243 A>G in mitochondrial DNA (mtDNA) was performed using multiplex polymerase chain reaction (PCR) technology. Afterwards, the sequence-specific probe interrogated each locus and labeled it at the 3' end using fluorescent dideoxynucleotide chemistry by the SNaPshot Multiplex Kit, the resulting products were then separated electrophoretically in ABI PRISM R 3130 Genetic Analyzer and analyzed in the presence of a fifth-dye-labeled size standard. Finally, the genotyping results were verified by direct sequencing or PCR-restriction fragment length polymorphism (PCR-RFLP).</p><p><b>RESULTS</b>(1) The total mutation frequency for the 7 mutation hot-spots was 53.6%. The mutation frequency of 235delC was 24.0%, 299-300delAT was 5.6% in the GJB2 gene, IVS7-2A>G was 15.2%, 2168A>G was 3.2% in the SLC26A4 gene. The mutation frequency of 1555A>G and 7445 A>G in mtDNA was 4.8% and 0.8% respectively. The mutation 3243 A>G was not detected. (2) The SNaPshot results were consistent with that from direct sequencing or PCR-RFLP, and the specificity and sensitivity of detection were 100%.</p><p><b>CONCLUSION</b>(1) More than half of the patients with deafness in southern Jiangsu province carry the mutations of the seven hot-spots. (2) The genetic screening technology platform based on SNaPshot can detect 7 mutations in one reaction, and is efficient and suitable for clinical practice.</p>
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Humanos , Pueblo Asiatico , Genética , China , Conexinas , Análisis Mutacional de ADN , Métodos , Pruebas Genéticas , Métodos , Pérdida Auditiva Sensorineural , Diagnóstico , Genética , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Polimorfismo de Nucleótido Simple , GenéticaRESUMEN
Background Scarring of the filtering bleb is a main cause of filtering surgical failure in glaucoma.It has been reposed that tetrandrine could suppress the proliferation of cultured human fibroblast of Tenons capsule in vitro and thus has the potential effect to prevent scarring after the filtering surgery. Objective Present study was to investigate the anti-cicatricial effect of tetrandrine drug delivery system(Tet DDS)during filtration surgery. Methods Filtration surgery was performed in bilateral eyes of 18 New Zealand white rabbits.The Tet DDS with 0.3 mg Tet,0.2 mg Tet or free-Tet were implanted subcunjunctially during the surgery.The filtering blebs were scored in 1 day,4,7,10,14 days after referring to the corneal thickness and bleb range under the slit-lamp biomicroscopy.The morphology of filtering bleb was assessed by in vivo confocal microscopy in 7 and 14 days after operation.The filtering bleb specimen was prepared in 7 and 14 days for the histopathological examination. Results The filtering bleb scores in Tet DDS implantation groups were significantly higher than those in free-Tet DDS group from 4 days through 14 days after trabeculectomy(P<0.01),and the scores showed a considerably increase in 0.3 mg Tet DDS group compared with 0.2 mg Tet DDS group from 7 days through 14 days after trabeculectomy(P<0.05).The filtering blebs of Tet DDS implantation groups were found with distinct subepithelial cystic spaces under the light microscopy and in vivo confocal microscopy on the 7th day and 14th day after surgery.Compared with free-Tet DDS group,the numbers of subepithelial mierocysts were much more(P<0.01)and the area of microcysts was larger(P<0.01)in Tet DDS group.The filtering tissue presented with more subepithelial microcysts and larger microcysts range in 0.3 mg Tet DDS group than 0.2 mg Tet DDS group in 7 and 14 days after operation(P<0.05).The inflammatory cell infiltration wag milder in 0.3 mg Tet DDS group in comparison with 0.2 mg Tet DDS group and free-Ted DDS group.Conclusion Tet DDS has strong inhibitory effects on inflammatory cells activity and fibroblagt activity the early stage after filtering surgery and therefore improve the surgery success rate.
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Background Glaucoma is primarily characterized by the damage of retinal ganglion cells in the inner layer.Whether the outer retinal layers are involved is controversial.Although the functional abnormality of the outer retinal layers have been determined,structural studies present difierent outcomes.Objective This study measured and compared photoreceptor layer thickness between normal and glaucomatous eyes using spectral domain optical coherence tomography(OCT). Methods A case-control study was designed.The macular area of 38 eyes from 38 normal volunteers and 48 primary open-angle glaucomatous eyes(POAG)were imaged by spectral domain OCT(SD OCT).The outer nuclear layer(ONL)and inner and outer segments(IS/OS)layer thicknesses in fovea and parafovea(1.5 mm from the fovea) were measured by a single masked observer using an image analysis software (SigmaScan Pro version 5.0).Retinal nerve fiber layer(RNFL)thicknesses of the 86 eyes were measured by Stratus OCT.The photoreceptor layer thicknesses between normal and glaucomatous eyes were compared.The correlation of photoreceptor with RNFL thicknesses was evaluated with linear and non-linear regression models. Results The outer nuclear layer(ONL)thickness in the fovea in normal and glaucomatous eyes were 96.7±10.7μm and 103.7±13.3 μm,respectively,with a significant difference(P=0.011).The inner and outer segments(IS/OS)layer thicknesses in the fovea in the two groups were 59.3±5.5 μm and 59.5±5.5μm,respectively,without significant difference(P=0.890).The outer nuclear layer(ONL)thicknesses in the parafovea in normal and glaucomatous eyes were 70.9±14.0μm and 68.7 ±10.7μm,respectively,(P=0.410).The inner and outer segments(IS/OS)layer thicknesses in the parafovea in the two groups were 45.2±6.4 μm and 43.6±5.5μm,respectively(P=0.228).The relationship between ONL and RNFL thickness was best described with a second order polynomial regression model assoeiation(Y=-0.019X2+2.73X+10.34,R2=0.211,P=0.005). Conclusion The foveal ONL thickness is increased in glaucomatous eyes.The alteration of foveal ON L thickness is associated with the severity of the disease.
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Background Fundus photography is a traditional method for detecting local retinal nerve fiber layer (RNFL) defects,but the evaluation of its result depends on the observer's experience.The spectral domain optical coherence tomography (OCT) exhibit the defects of RNFL very clearly.Objective This study was to evaluate the diagnosis value and correlation between topographic profiles of localized RNFL defects determined by spectral domain and time domain OCT with fundus photography.Methods Forty-one normal eyes of 41 subjects and 55 eyes of 55 glaucomatous patients with localized,wedge-shaped RNFL defects identified by two glaucoma specialists in fundus photographs were enrolled in the clinical study.The angular location and width of RNFL defects determined on the images of fundus photography,Cirrus HD-OCT and Stratus OCT were analyzed respectively using Pearson's correlation coefficient and linear regression analysis.This study followed the Helsinki declaration and was approved by Ethic Committee of Shenzhen Eye Hospital.Written informed consent was obtained from each individual before the clinical examination.Results Seventy-five RNFL defects were identified in 55 eyes by two glaucoma specialists unanimously with the defect position at superior-temporal and inferior-temporal quadrants.The sensitivity of Cirrus HD-OCT and Stratus OCT to determining RNFL defects were 88.0% and 69.3% respectively and their specificities were 92.7% and 97.6% respectively.The angular locations of RNFL defects by Cirrus HD-OCT and Stratus OCT were highly correlated with those by fundus photography(r=0.993,r=0.992,P<0.001);while the angular widths of RNFL defects by Cirrus HD-OCT and Stratus OCT were moderately correlated with those by fundus photography(r=0.420,r=0.432,P=0.019,P=0.002).No significant differences were found in the defect width of RNFL between Cirrus HD-OCT or Stratus OCT and fundus photography(Cirrus HD-OCT:P=0.114;Stratus OCT:P=0.074),and significant difference was found in that between Cirrus HD-OCT and Stratus OCT(P=0.002).Conclusion Spectral domain OCT and time domain OCT can localize RNFL defects with high sensitivity and specificity.The measure value of Cirrus HD-OCT and Stratus OCT for RNFL defects shows a good diagnostic agreement with fundus photography.
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<p><b>OBJECTIVE</b>To establish an assay for screening chromosome 22q11 microdeletion efficiently, and apply it for detecting del22q11 in patients with non-syndromic congenital heart defects (CHD).</p><p><b>METHODS</b>Seventy nine patients with non-syndromic CHD and 84 normal controls were genotyped for 8 short tandem repeat (STR) markers located in 22q11 region, by using quantitative fluorescence polymerase chain reaction (QF-PCR).</p><p><b>RESULTS</b>The average heterozygosity of the STR markers in patients and controls was 0.76 and 0.79, respectively. One patient with Tetralogy of Fallot (TOF) from the 79 CHD cases (1.3%) was found to have a deletion within chromosome 22q11.2, which was confirmed by multiplex ligation-dependent probe amplification (MLPA).</p><p><b>CONCLUSION</b>The QF-PCR assay developed in this study was a reliable and an efficient alterative approach to screen for 22q11 microdeletion in clinical diagnosis and genetic counseling.</p>
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Humanos , Estudios de Casos y Controles , Deleción Cromosómica , Cromosomas Humanos Par 22 , Genética , Fluorescencia , Cardiopatías Congénitas , Diagnóstico , Genética , Repeticiones de Microsatélite , Reacción en Cadena de la Polimerasa , MétodosRESUMEN
<p><b>BACKGROUND</b>The DFNB1 locus, which contains the gap junction beta-2 (GJB2) and gap junction beta-6 (GJB6) genes, plays a key role in the nonsyndromic and sporadic hearing impairment. Mutations of DFNB1 result in autosomal recessive nonsyndromic hearing impairment (ARNSHI). Previous researches have identified mutations in GJB2 and GJB6, but single nucleotide polymorphisms (SNPs) of DFNB1 locus have not been studied. So we chose five SNPs to evaluate whether there is difference between deafness people and normal-hearing people in Han Chinese.</p><p><b>METHODS</b>Five SNPs in the DFNB1 region were examined using a case-control association study between cases with sporadic hearing impairment and controls with normal hearing. The HWEsoft and SHEsis softwares were used to analyze the results.</p><p><b>RESULTS</b>Single-locus association analysis showed a positive association for three SNPs: rs9315400, rs2274084 and 235delC. When we compared the distributions of the haplotypes, we also found significant differences between cases and controls in the haplotype combination of rs2274084 and rs2274083 (chi(2) = 12.978, df = 3, global P = 0.004719).</p><p><b>CONCLUSIONS</b>The haplotypes composed of rs2274084 and rs2274083 suggested that C-C may be a risk haplotype for the sporadic hearing impairment while T-T may be protective against hearing impairment. From that point of view, we can conclude that the SNPs of DFNB1 locus also plays an important role in sporadic hearing impairment cases.</p>
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Adolescente , Niño , Femenino , Humanos , Masculino , Conexina 26 , Conexina 30 , Conexinas , Genética , Haplotipos , Pérdida Auditiva , Genética , Polimorfismo de Nucleótido SimpleRESUMEN
·AIM: To determine whether a combined scleral buckle and pars plana vitrectomy, as a primary surgery, owns any advantage over a single scleral buckling in pseudophakic and aphakic retinal detachments.·METHODS: Thirty consecutive pseudophakic/aphakic retinal deachments were included in this retrospective study. Each patient underwent combined scleral buckle and pars plana vitrectomy, and was followed up for 3 to 14 months. Patients were examined with respect to anatomic reattachment, visual acuity improvement, and surgical complications.·RESULTS: All eyes were anatomically reattached after the first operation. All patients had an increase in their visual acuity, and there were no complications attributable to the vitrectomy procedure.·CONCLUSION: A combined surgery for primary pseudophakic/aphakic retinal detachments offers significant benefits to scleral buckling alone. The improved uccess rate is contributing to the function of vitrectomy, which improves peripheral visibility and reduces the occurrence of proliferative vitreoretinopathy (PVR).
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AIM: To investigate the characteristics and surgical management of retinal detachment (RD) after laser-assisted in situ keratomileusis (LASIK) in myopia.METHODS: Documents of patients with RD observed in 18342 eyes (9 598 patients) who underwent LASIK were retrospectively reviewed. None of the patients had history of corneal or other diseases before LASIK and preoperative fundus examination was performed. Patients were followed for a mean of 20 months and the clinical features of the eyes which developed RD after LASIK were investigated.RESULTS: Six patients including 2 males and 4 females developed RD, and the incidence of RD after LASIK was 0.33‰. Mean pre-LASIK myopia in these 6 eyes was 9.33D.None of these eyes had prophylactic treatment history of any retinal lesions. Mean time interval between LASIK and RD development was 9.2 months. All RDs happened spontaneously and were managed with vitrectomy and other techniques.Retinal reattachment was achieved at the first retinal detachment surgery in all 6 eyes (100%) at mean follow-up of 9.3months.CONCLUSION: RD after LASIK is not common. The study suggests no cause-effect relationship between RD and LASIK procedure in myopic eyes. However, clinicians should still be aware of retinal pathology in patients undergoing LASIK.
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AIM: To assess the efficacy and safety of prophylactic laser photocoagulation for retinal breaks before laser in situ keratomileusis (LASIK) in myopic eyes.METHODS: From April 2000 to April 2004, totally 1 845 eyes ( 1 233 patients ) requesting LASIK had a fundus examination with indirect ophthalmoscopy before the surgery. They were divided into two groups according to the presence (Group 1) or absence of retinal breaks (Group 2). All patients with retinal breaks, though they were asymptomatic, underwent prophylactic laser photocoagulation to seal the breaks before LASIK.RESULTS: Patient age ranged from 18 to 43 ( 25.3±5.7) yaers old. Mean preoperative spherical equivalent refraction (PSER) was -7.44± 2.13 D (range, -1.50 to -14.50 D). Retinal breaks were identified and treated in 37eyes (2.05%) of 32 patients;1 808 eyes of 1 201 patients had no retinal breaks. No statistical difference was found in age ( P >0.05) or gender (P >0.05) between the two groups. Significant difference of PSER was noted between Group 1 (-9.41± 4.15D) and Group 2 (-7.52±3.71D) (P<0.05). During a mean 14mo follow-up, none of the patients developed retinal detachment.CONCLUSION: The efficacy and safety of prophylactic laser photocoagulation for retinal breaks was confirmed.Retinal breaks should be identified and treated by photocoagulation in eyes before LASIK for myopia.