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The aim of this study was to investigate the value of chromosomal microarray analysis (CMA) for the prenatal diagnosis of orofacial clefts.A total of 143 fetuses with oral clefts were detected by ultrasound during prenatal exam between 2012 and 2017 in our center. We categorized the cases into 4 groups: isolated cleft lip (CL) (CL only), isolated cleft palate (CP only), isolated cleft lip and palate (CLP) (CLP only), and syndromic CLP (combined with other malformations). The CMA was performed in all cases, while 139 fetuses were referred for G-banded chromosome analysis.There were 42 male and 10 female fetuses were born, with a sex ratio of 4.2:1. The isolated CLP group accounted for 74.1% (106/143) of cases, while the isolated CL, isolated CP, and syndromic CP groups accounted for 13.9% (20/143), 2% (3/143), and 10% (14/143), respectively. A total of 11 fetuses had pathogenic copy number variants (CNVs, 7.7%), including isolated CP (1/143, 0.7%), isolated CLP (5/143, 3.5%), and syndromic CLP (5/143, 3.5%). Compared with the CMA results, 5 fetuses were found to have an abnormal karyotype (5/139, 3.6%). However, no abnormalities were found in either karyotype analysis or CMA in the isolated CL group.CMA is a valuable tool for identifying submicroscopic chromosomal abnormalities in the prenatal diagnosis of oral clefts. An excellent outcome can be expected for fetuses with isolated CL that are negative for chromosomal abnormalities.
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Trastornos de los Cromosomas/diagnóstico , Labio Leporino/diagnóstico , Fisura del Paladar/diagnóstico , Análisis por Micromatrices/métodos , China , Aberraciones Cromosómicas , Trastornos de los Cromosomas/genética , Labio Leporino/genética , Fisura del Paladar/genética , Variaciones en el Número de Copia de ADN , Femenino , Feto , Humanos , Recién Nacido , Cariotipificación , Masculino , Embarazo , Diagnóstico PrenatalRESUMEN
OBJECTIVE: To investigate the correlation between articulation, velopharyngeal function, and surgical age by comparing the changes in articulation after velopharyngeal closure is performed. This study is also conducted to investigate the influencing factors of omission change between pre- and post-operation. METHODS: A total of 48 patients, including 18 males and 30 females, mean age (13.3 ± 5.8) years, with non-syndromic cleft lips and palates were selected from January 2011 to December 2011. Their speech data and articulation between pre- and post-operation were retrospectively analyzed using non-parametric tests. Correlation study was performed to analyze the influencing factors of the changes in articulation. P < 0.05 was considered statistically significant. RESULTS: The difference in articulation after velopharyngeal closure occurred was significant (Z = -3.796, P = 0.000). A negative correlation between the ratio of post-operative normal articulation and surgical age (R = -0.487, P = 0.000) was observed. The change in omission was positively correlated with surgical age (R = 0.589, P = 0.000) and gender (R = 0.404, P = 0.047). By comparison, the change in omission was negatively correlated with follow-up time (R = -0.235, P = 0.040). CONCLUSION: Articulation and intelligibility are significantly improved after velopharyngeal closure is performed. These parameters are negatively correlated with surgical age to some extent. In addition, the change in omission is positively correlated with surgical age and gender, whereas the change in omission is negatively correlated with follow-up time.
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Fisura del Paladar , Insuficiencia Velofaríngea , Adolescente , Trastornos de la Articulación , Niño , Labio Leporino , Femenino , Humanos , Masculino , Estudios Retrospectivos , Adulto JovenRESUMEN
<p><b>OBJECTIVE</b>To investigate the correlation between articulation, velopharyngeal function, and surgical age by comparing the changes in articulation after velopharyngeal closure is performed. This study is also conducted to investigate the influencing factors of omission change between pre- and post-operation.</p><p><b>METHODS</b>A total of 48 patients, including 18 males and 30 females, mean age (13.3 ± 5.8) years, with non-syndromic cleft lips and palates were selected from January 2011 to December 2011. Their speech data and articulation between pre- and post-operation were retrospectively analyzed using non-parametric tests. Correlation study was performed to analyze the influencing factors of the changes in articulation. P < 0.05 was considered statistically significant.</p><p><b>RESULTS</b>The difference in articulation after velopharyngeal closure occurred was significant (Z = -3.796, P = 0.000). A negative correlation between the ratio of post-operative normal articulation and surgical age (R = -0.487, P = 0.000) was observed. The change in omission was positively correlated with surgical age (R = 0.589, P = 0.000) and gender (R = 0.404, P = 0.047). By comparison, the change in omission was negatively correlated with follow-up time (R = -0.235, P = 0.040).</p><p><b>CONCLUSION</b>Articulation and intelligibility are significantly improved after velopharyngeal closure is performed. These parameters are negatively correlated with surgical age to some extent. In addition, the change in omission is positively correlated with surgical age and gender, whereas the change in omission is negatively correlated with follow-up time.</p>
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Adolescente , Niño , Femenino , Humanos , Masculino , Adulto Joven , Trastornos de la Articulación , Labio Leporino , Fisura del Paladar , Estudios Retrospectivos , Insuficiencia VelofaríngeaRESUMEN
<p><b>OBJECTIVE</b>To investigate the consonant pronunciation characteristics of older unoperated cleft palate patients.</p><p><b>METHODS</b>One hundred unoperated cleft palate patients (more than 8 years old) were included. Subjective speech assessment was delivered to each patient. The incidence and distribution of varies consonant misarticulation errors consisting of manners and places of articulation were summarized.</p><p><b>RESULTS</b>Consonant misarticulation existed among 86% of all cases. Compensatory misarticulation was observed in 66% patients, while 14% patients demonstrated completely normal articulation. The articulation manners of the highest correction rate, in succession, were nasals, lateral, fricatives, stops, and affricates. The error type of stops and affricates mainly consisted of compensation and omission. The articulation places of the highest correction rate, in succession, were bilabial, alveolar, linguadental, and velar.</p><p><b>CONCLUSION</b>Compensatory, omission, and substitution, which happen in all the stops, fricatives and affricates, are the top three misarticulation. The misarticulation incidence of unaspirated sound is higher than that of aspirated. Compensatory errors a the most common ones in aspirated sounds, while omission and weak pressure are more frequent in unaspirated sounds. Weak pressure is mainly observed in unaspirated consonants. As the articulation spot move backward, the compensation of fricatives and stops deteriorate, the omission of affricates increase.</p>
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Femenino , Humanos , Masculino , Trastornos de la Articulación , Fisura del PaladarRESUMEN
<p><b>OBJECTIVE</b>To investigate the application of the perceptual assessment in the diagnosis of the velopharyngeal function, to provide a reference to the improvement of the velopharyngeal function diagnosis through comparing the consistency between the diagnosis of the perceptual assessment and the objective assessment.</p><p><b>METHODS</b>All subjects (254) were selected from the Department of Cleft Lip and Palate Surgery, West China School of Stomatology, Sichuan University, from 2000-2010. The results of the perceptual and the nasopharyngeal fiberscope (NPF) assessment were retrospectively analyzed, and the consistent rate between the two assessment methods was calculated. The Kappa test and the correlation analysis were performed to analyze the consistency and correlation, and the factors relating to the perceptual assessment were analyzed by the correlation coefficient.</p><p><b>RESULTS</b>There were 254 patients met the inclusion criteria. The consistent number of the patients diagnosed by the perceptual and the objective assessment as velopharyngeal competence (VPC) and velopharyngeal insufficiency (VPI) were 58 and 167 respectively. The consistent rate was 88.58% for all patients, and 66.67% for the VPC patients. The Kappa value was 0.721, Spearman's R=0.751, P<0.05. There were correlation between the hypernasality, the nasal emission and the subjective assessment, and Spearman's R=0.697, 0.590, P<0.05.</p><p><b>CONCLUSION</b>The VPC patients and the VPI patients with moderate and severe hypernasality and nasal emission diagnosed by the perceptual assessment could be exempt from the objective examination. Patients diagnosed with mild hypernasality and nasal emission by the perceptual assessment should be further referred to NPF or other instruments.</p>
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Humanos , China , Labio Leporino , Fisura del Paladar , Estudios Retrospectivos , Insuficiencia VelofaríngeaRESUMEN
OBJECTIVE:To study the pharmacokinetics and relative bioavailability of clindamycin phosphate capsules in healthy volunteers METHODS:A single oral dose of 300mg domestic clindamycin phosphate capsules or imported Dalacin C was given to 18 healthy male volunteers in an open randomized crossover study Clindamycin concentrations in plasma were determined by microbiologic assay The pharmacokinetic parmameters as well as relative bioavailability were calculated with 3p97 software and bioequivalence was analysed with NDST software RESULTS:The concentration-time curves of domestic clindamycin phosphate capsules or imported Dalacin C were well fitted for one-compartment open model The pharmacokinetic parameters of domestic and imported products were:Tmax(0 94?0 51) and(0 75?0 35)h;Cmax(3 86?0 62)?g/ml and (4 08?0 60)?g/ml;AUC0~12(14 88?3 64)?g/(ml?h)and(16 07?3 68)?g/(ml?h)respectively There were no significant differences in AUC0~12 and Cmax between two products CONCLUSION:The relative bioavailability of clindamycin phosphate capsules was(93 4?14 9)% compared with imported Dalacin C The results showed that the two formulations were bioequivalent
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OBJECTIVE:Using in vitro studies,we evaluated the antibacterial activity of amoxicillin/tazobactam against 128 strains of pathogens isolated from patients and compared with amoxicillin/clavulanic acid and amoxicillin/sulbactam.METHODS:To detect the minimum inhibitory concentrations (MIC)of four ?-lactams against 128 clinically isolated strains with agar dilution method.RESULTS:The results indicated that the in vitro antibacterial activity of amoxicillin/tazobactam(2∶1) was the best.The MIC50 of amoxicillin/tazobactam(2∶1) is 1/4~1/8 times than those of amoxicillin/sulbutam and amoxicillin/clavulanic acid.The MIC90 of amoxicillin/tazobactam(2∶1) was 1/2~1/4 of those of amoxicillin/sulbutam and amoxicillin/clavulanic acid.The combination ratio 2∶1(amoxicillin/tazobactam)of the two compounds was more suitable than other combination ratios(4∶1 and 8∶1)for inactivating ?-lactamase.CONCLUSION:The in vitro antibacterial activities of amoxicillin/tazobactam(2∶1) against MRSA,MRSE,MSSA and E.coli are high.It showed that amoxicillin/tazobactam(2∶1)is stable to ?-lactamase and is an effective bactericidal agent.