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Objective:To study the frequency of SLC26A4 gene mutation sites in children with enlarged vestibular aqueduct deafness in Yunnan, report the new mutation sites of SLC26A4 gene, further clarify the mutation spectrum of SLC26A4gene, and explore the association between biallelic and monoallelic mutations of SLC26A4 gene and CT phenotype of inner ear, so as to provide basis for clinical and genetic diagnosis of deafness. Methods:Review the results of temporal bone CT examination of 390 children after cochlear implantation in the Department of Otolaryngology, Kunming Children's Hospital from August 2016 to September 2021. Sanger sequencing of SLC26A4 gene was performed in 59 children with enlarged vestibular aqueduct. According to the genetic test results, the children who underwent temporal bone CT examination were divided into two groups: SLC26A4 biallelic mutation group（homozygous mutation and compound heterozygous mutation）, monoallelic mutation group, and the association with inner ear CT phenotype was analyzed, and the new sites were summarized and analyzed. Results:The c.919-2a>g mutation was the most common mutation in children with enlarged vestibular aqueduct with SLC26A4 gene mutation. Three new variants of SLC26A4 gene were found; CT examination combined with genetic testing found that a part of children with enlarged vestibular aqueduct was associated with SLC26A4 monoallelic mutation or no SLC26A4 gene mutation was detected. Further research is needed to investigate the involvement of other pathogenic factors in the pathogenesis of EVA.
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Child , Humans , Mutation Rate , Membrane Transport Proteins/genetics , China , Hearing Loss, Sensorineural/diagnosis , Mutation , Vestibular Aqueduct , Vestibular Diseases/pathology , Deafness/geneticsABSTRACT
RESUMO Objetivo Reunir os parâmetros encontrados no potencial miogênico evocado vestibular cervical (cVEMP) em crianças e adolescentes com síndrome do aqueduto vestibular alargado (SAVA) e identificar as possíveis alterações, quando comparados aos valores encontrados em normo-ouvintes da mesma faixa etária. Estratégia de pesquisa Revisão sistemática cadastrada na base PROSPERO, elaborada por meio de busca nos bancos de dados virtuais, a partir dos unitermos selecionados. Critérios de seleção Incluídos artigos científicos disponíveis na íntegra que relataram a avaliação com o uso do cVEMP na faixa etária entre 0 e 18 anos, com diagnóstico de SAVA, sem restrição de idioma e ano de publicação; excluídos estudos em paciente com algum distúrbio, outras patologias otoneurológicas e população fora da faixa etária estimada. Resultados Foram identificados 984 registros, a partir da pesquisa nas bases de dados consultadas e selecionados 5 artigos. Em um total de 133 pacientes que realizaram o cVEMP, foi observada presença de resposta na maioria dos casos, sem diferença significativa nas latências, mas com aumento na amplitude e diminuição nos limiares do cVEMP. Conclusão O teste cVEMP é recomendado na avaliação de crianças e adolescentes com SAVA e as características de aumento na amplitude e diminuição nos limiares podem ser utilizadas como parâmetros clínicos na identificação da referida síndrome, juntamente com a história clínica do paciente e os exames de imagem. No entanto, é imprescindível a realização de mais estudos com o exame cVEMP, ainda, em crianças e adolescentes com SAVA, para a melhor padronização dos valores encontrados, a fim de efetivar o diagnóstico correto.
ABSTRACT Purpose To gather the parameters found in the cervical vestibular evoked myogenic potential (cVEMP) in children and adolescents with enlarged vestibular aqueduct syndrome (SAVA) and identify the possible changes, when compared to the values found in normal hearing people of the same age group. Research strategy Systematic review registered in the PROSPERO database, prepared through a search in virtual databases, based on the selected keywords. Selection criteria Included scientific articles available in full that reported the evaluation using cVEMP in the 0 and 18 years old group , with a diagnosis of SAVA, without restrictions of language and year of publication; Studies on patients with any disorder other than otoneurological ones and populations outside the proposed age range were excluded. Results 984 records were identified from the search in the databases consulted and 5 articles were selected. In a total of 133 patients who underwent cVEMP, the presence of a response was observed in most cases, with no significant difference in latencies, but with an increase in amplitude and a decrease in cVEMP thresholds. Conclusion The cVEMP test is recommended in the evaluation of children and adolescents with SAVA and the characteristics of increase in amplitude and decrease in thresholds can be used as clinical parameters in the identification of this syndrome, together with the patient's clinical history and imaging exams. However, it is essential to carry out more studies with the cVEMP test, also in children and adolescents with SAVA, to better standardize the values found, in order to make the correct diagnosis.
Subject(s)
Humans , Child , Adolescent , Vestibular Aqueduct/diagnostic imaging , Vestibular Evoked Myogenic Potentials , Neurotology , Case-Control StudiesABSTRACT
Abstract Objective: To evaluate cerebrospinal fluid dynamics, using cine phase-contrast magnetic resonance imaging (cine-PC MRI), in healthy pediatric subjects, determining the normal flow values in this population, as well as identifying differences related to age, sex, and body surface area. Materials and Methods: This was a descriptive cross-sectional study involving 32 healthy children and adolescents, in whom the flow of cerebrospinal fluid through the cerebral aqueduct was evaluated quantitatively with cine-PC MRI. We used specialized software to analyze the images obtained with cine-PC MRI, drawing a region of interest on the aqueduct. A flow-time curve was obtained, as were automated measurements of the various parameters. Results: The following normal (mean) values were obtained: net flow, 1.10 ± 0.99 mL/m; stroke volume, 12.2 ± 10.1 μL/cycle; mean velocity, 0.72 ± 1.00 cm/s; peak systolic velocity, 5.28 ± 2.30 cm/s; peak diastolic velocity, 4.51 ± 1.77 cm/s. These values were not affected by age or sex. In addition, body surface area was not found to correlate significantly with mean velocity or stroke volume. Conclusion: In children and adolescents, the basic cerebrospinal fluid flow parameters, as determined by cine-PC MRI, appear to be independent of age and sex.
Resumo Objetivo: Avaliar a dinâmica do fluxo do líquido cerebrospinal por cine-ressonância magnética com contraste de fase em crianças saudáveis, para determinar os valores normais de fluxo nesta população, bem como a diferença entre medições distintas de acordo com idade, sexo ou área da superfície corporal. Materiais e Métodos: Convocamos 32 crianças saudáveis em uma análise descritiva de prevalência para a avaliação quantitativa do fluxo do líquido cerebrospinal pelo aqueduto de Sylvius. A análise foi realizada por meio de software especializado, desenhando uma região de interesse no aqueduto. Uma curva de fluxo-tempo e medições automáticas de diversos parâmetros foram obtidas. Resultados: Os seguintes valores normais foram obtidos: fluxo efetivo de 1,10 ± 0,99 mL/m; volume médio de 12,2 ± 10,1 μL/ciclo; velocidade média de 0,72 ± 1,00 cm/s; pico de velocidade sistólica de 5,28 ± 2,30 cm/s; pico de velocidade diastólica de 4,51 ± 1,77 cm/s. Esses valores não foram afetados pela idade ou sexo das crianças. Além disso, não foi encontrada correlação significativa entre a área corporal, a velocidade média e o volume sistólico. Conclusão: De modo geral, os parâmetros básicos do fluxo do líquido cerebrospinal independem de idade e sexo em crianças.
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RESUMEN La evaluación del cerebro fetal es un punto imprescindible en el ultrasonido obstétrico, por la gran cantidad de malformaciones que pueden ser diagnosticadas. La guía de ISUOG nos brinda los cortes elementales para la sospecha de la patología cerebral; pero, podemos ampliar y mejorar nuestro ultrasonido con la visualización de estructuras fácilmente reproducibles, tales como el complejo anterior, cuerpo calloso, cisura de Silvio y el cuarto ventrículo. Presentamos algunas herramientas para complementar la evaluación del cerebro fetal.
ABSTRACT The evaluation of the fetal brain is an essential point in obstetric ultrasound due to the large number of malformations that can be diagnosed. The ISUOG guide provides us with the elementary sections for the suspicion of brain pathology; but we can extend and improve our ultrasound with the visualization of easily reproducible structures, such as the anterior complex, corpus callosum, Sylvian fissure and the fourth ventricle. We present some tools to complement the assessment of the fetal brain.
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The incidence of tubercular meningitis leading to obstructive hydrocephalus is extremely rare accounting for 1% cases and is even rarer during pregnancy. A 20-year-old 2nd Gravida presented at 32 weeks gestation with complaints of intermittent headache, decreased vision since 3 months and irrelevant talks and agitated behavior since 1 day. On examination patient had stable vital signs but constant irritable behavior. Obstetric examination revealed a pregnancy corresponding to 32 weeks with a live fetus. Patient had a past history of Anti-tubercular therapy taken 2 years back for tubercular meningitis. Neurological examination revealed a GCS of 12/15 and Ophthalmologic examination revealed patient to be having only Perception of Light with optic atrophy on fundoscopy. NCCT head revealed moderate dilatation of bilateral ventricles and 3rd ventricle without any periventricular ooze suggestive of Chronic Obstructive Hydrocephalus. Supportive therapy was instituted with Dexamethasone and Mannitol infusion after Neurosurgical consultation along with antenatal care. Decision for termination of pregnancy was taken at 35 weeks by an elective caesarean section with simultaneous ventriculo-peritoneal shunt insertion by neurosurgical team under general anesthesia. A live male baby of 2.25 kg was delivered. Patient with baby was discharged on 10th post-operative day. Obstructive hydrocephalous developing post tubercular meningitis in pregnancy is a rare event. Caesarean section was done along with shunt surgery in our case. Very few cases have been reported in the medical literature so far.
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Objective@#To explore the imaging characteristics of large vestibular aqueduct syndrome (LVAS) patients and their relationship with the acoustically evoked short latency negative response (ANSR), so as to provide reference for the diagnosis of LVAS.@*Methods@#Clinical data of 174 patients(334 ears) with LVAS diagnosed and treated by the Department of Otorhinolaryngology Head and Neck Surgery of the First Affiliated Hospital of Guangxi Medical University, from October 2009 to December 2017 were retrospectively analyzed, including 117 males and 57 females, aged from 5 months to 47 years old, with the median age of 4 years and 4 months. ABR and imaging data of patients were collected. Midpoint diameter and the outlet diameter of the vestibular aqueduct were measured on CT images, the midpoint diameter of the intraosseous parts and the extraosseous parts of enlarged endolymphatic sac(EES) were measured on MRI images. The correlation between the above measurements was analyzed by Pearson test using SPSS 17.0. According to whether ASNR was detected in ABR, the above data were divided into two groups, and the differences of the above imaging measurements were compared by the Independent-Sample Test.@*Results@#The average midpoint diameter of the vestibular aqueduct was (1.87±0.58) mm (±s, the following was the same), and the outlet diameter was (3.07±0.99) mm on CT; the average midpoint diameter of the intraosseous parts in enlarged endolymphatic sac(EES) was (2.39±1.37) mm, and the extraosseous parts was (2.50±2.18) mm on MRI. There was a correlation between the four measurements (P<0.05), among which the midpoint diameter of vestibular aqueduct was strongly positively correlated with the outlet diameter (r=0.760), and the remaining pairs were weakly correlated. ASNR was detected in 241 ears (72.16%,241/334) and undetected in 93 ears (27.84%, 93/334) of the 334 ears with LVAS. Midpoint diameter and the outlet diameter of the vestibular aqueduct in no ASNR group were smaller than the ASNR group, and the difference was statistically significant (t value was 2.814 and 2.754, P<0.05). There was no significant difference in the midpoint diameter of the intraosseous parts and the extraosseous parts of enlarged endolymphatic sac between the two groups, and the difference was no statistically significant(t value was 0.101 and 0.683, P>0.05).@*Conclusions@#There is a strong positive correlation between the midpoint diameter of vestibular aqueduct and the outlet diameter in LVAS patients. There is a certain correlation between the size of vestibular aqueduct and the size of endolymphatic sac. The smaller the diameter of vestibular aqueduct, the lower the occurrence rate of ASNR.
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Objective@#The radiological and audiological results of patients with hearing loss associated with enlarged vestibular aqueduct (EVA) were analyzed statistically to explore the association between them.@*Methods@#In this retrospective study, we screened 64 patients (128 ears) with EVA diagnosed in the Department of Otorhinolaryngology, Shengjing Hospital of China Medical University from January 2012 to June 2016, who met the inclusion criteria and the exclusion criteria at the same time, including 37 males (74 ears) and 27 females (54 ears), aged from 6 months to 17 years, all of whom showed varying degrees of sensorineural hearing loss (SNHL). The imaging observations included the midpoint measurement (MP) and the operculum measurement(OP) of the temporal bone HRCT, the long signal area cross-sectional area (ESL), the short signal area cross-sectional area (ESS), as well as the largest total signal area cross-sectional area (EST) of the endolymphatic sac(ES) of the cochlear MRI. The audiological observations included collecting detailed medical history and subjective and/or objective audiological examinations to determine the character and degree of hearing loss. According to the progress and changes of hearing loss, they were divided into hearing stability group (86 ears) and fluctuation/progression group (42 ears). SPSS22.0 statistical software was used to carry out statistical analysis of the imaging measurement results.@*Results@#The sizes of MP and OP were smaller in the stable group than those in the fluctuating/progressive group, and the difference was statistically significant (P<0.05). For ESL, ESS or EST, there was no significant difference between the stable group and the fluctuating/progressive group (P>0.05). For the 13 patients with asymmetric hearing loss, the sizes of MP, OP, ESL, ESS or EST were not significantly different between the mild side and the serious side (P>0.05). For the ears whose ESL/ESS was>2 or the ESS/ESL was>2, the proportion was not significantly different between the stable group and the fluctuating/progressive group (P>0.05).@*Conclusions@#For patients with EVA,the smaller the enlarged vestibular aqueduct is,the more likely it is congenital severe sensorineural hearing loss. Patients with significantly enlarged vestibular aqueduct often exhibit volatility/progressive hearing loss. The degree of enlargement of the endolymphatic vessels and endolymphatic sac is not related to the degree of hearing loss. For EVA patients with asymmetric hearing loss, the mild or serious side of hearing loss is random, which is not affected by the degree of enlargement of the vestibular aqueduct and endolymphatic sac. The degree of hearing loss in patients with EVA is not related to the ratio of ESL/ESS.
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OBJECTIVES: To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families. METHODS: Sanger sequencing of all coding exons in SLC26A4 (encoding Pendrin protein) was performed on the two patients, their sibling and parents respectively. To predict and visualize the potential functional outcome of the novel variant, model building, structure analysis, and in silico analysis were further conducted. RESULTS: The results showed that the proband from family I harbored a compound heterozygote of SLC26A4 c.1174A>T (p.N392Y) mutation and c.1181delTCT (p.F394del) variant in exon 10, potentially altering Pendrin protein structure. In family II, the proband was identified in compound heterozygosity with a known mutation of c.919-2A>G in the splice site of intron 7 and a novel mutation of c.1023insC in exon 9, which results in a frameshift and translational termination, consequently leading to truncated Pendrin protein. Sequence homology analysis indicated that all the mutations localized at high conservation sites, which emphasized the significance of these mutations on Pendrin spatial organization and function. CONCLUSION: In summary, this study revealed two compound heterozygous mutations (c.1174A>T/c.1181delTCT; c.919- 2A>G/c.1023insC) in Pendrin protein, which might account for the deafness of the two probands clinically diagnosed with EVA. Thus this study contributes to improve understanding of the causes of hearing loss associated with EVA and develop a more scientific screening strategy for deafness.
Subject(s)
Child , Humans , Asian People , Clinical Coding , Computer Simulation , Deafness , Exons , Extravehicular Activity , Frameshift Mutation , Hearing Loss , Heterozygote , Introns , Mass Screening , Parents , Sequence Homology , Siblings , Vestibular AqueductABSTRACT
Objective To observe HRCT features of cochlear aqueduct (CA) in normal infants,and to explore the differences of CA diameters between sensorineural hearing loss (SNHL) infants and normal infants.Methods Totally temporal bone HRCT data of 129 infants without abnormal hearing (258 ears) were taken as control group,while temporal bone CT data of 58 infants (116 ears) diagnosed as sensorineural hearing loss (SNHL) with normal inner ear structure were collected as SNHL group.Infants in both 2 groups were divided into 1-year,2-year and 3-year subgroups.The width of external aperture and length of CA were measured,and the results were statistically analyzed.Results In normal group,CA diameters and the width of external aperture had no statistical differences between sides and genders (both P＞0.05).There was no statistical difference of CA diameters between the same subgroup in 2 groups (t=0.160,0.979,0.432,all P＞0.05),but the width of CA external aperture in subgroups of SNHL group was smaller than those of normal group (t=3.722,3.101,3.336,all P＜0.01).Conclusion The length of CA and width of external aperture increase with age,and there may be relationship between smaller width of CA external aperture and SNHL.
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El acueducto vestibular dilatado es el hallazgo más encontrado en imágenes radiológicas de pacientes con hipoacusia neurosensorial (1,2). La frecuencia del síndrome de acueducto vestibular dilatado continúa siendo subestimada, situación que ha llevado a subdiagnosticar pacientes con esta condición. El propósito del reporte de caso y su discusión es aclarar los aspectos más importantes del diagnóstico clínico, audiológico e imagenológico de esta patología, así como considerarla parte del diagnóstico diferencial de pacientes en estudio de hipoacusia.
Large vestibular aqueduct is the most frequent condition found in radiological imaging of patients with sensorineural hearing loss. The frequency of this syndrome continues to be underestimated, which has lead to underdiagnosis. The purpose of this case report and its discussion is to clarify the most important aspects of the clinical diagnosis, audiology and radiology, as well as rise attention to the importance of this entity as part of the differential diagnosis in hearing loss workup.
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Humans , Hearing Loss, Sensorineural , Vestibular Aqueduct , Hearing Loss, ConductiveABSTRACT
Objective@#To discuss the possible reasons for cerebrospinal fluid (CSF) gusher in cochlear implantation (CI) with inner ear abnormality.@*Method@#A retrospective analysis was performed on 340 cases who underwent CI from January 2013 to December 2016 in Division of Otology, Otorhinolaryngology Hospital, the First Affiliated Hospital of Zhengzhou University. Among them, 96 cases had inner ear abnormalities. Imaging examinations were performed on these patients, and classification of inner ear malformation was done according to the results.@*Results@#Among the cases with inner ear abnormality, 9.4% (9/96) suffered from CSF gusher during CI. The inner ear abnormalities were found to be as follows: 3 cases had incomplete partition type Ⅰ; 1 case had incomplete partition type Ⅰ with semicircular canal dysplasia; 1 case had common cavity deformity; 1 case had enlarged vestibular aqueducts and common cavity deformity; 2 cases had Mondini deformity. All of these cases had bony defect in the fundus of the internal acoustic meatus observed on CT scans. Another case was type 1 cochlear aqueduct with round window aplasia.@*Conclusions@#Defects in the modiolus or fundus of the internal acoustic meatus is the main reason for CSF gusher during CI. A patent cochlear aqueduct is another possible reason.
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OBJECTIVES: We aimed to identify the causative mutation for siblings in a Korean family with nonsyndromic hearing loss (HL) and enlarged vestibular aqueduct (EVA). The siblings were a 19-year-old female with bilateral profound HL and an 11-year-old male with bilateral moderately severe HL. METHODS: We extracted genomic DNA from blood samples of the siblings with HL, their parents, and 100 controls. We performed mutation analysis for SLC26A4 using direct sequencing. RESULTS: The two siblings were compound heterozygotes with the novel mutation p.I713LfsX8 and the previously described mutation p.H723R. Their parents had heterozygous mono-allelic mutations. Father had p.I713LfsX8 mutation as heterozygous, and mother had p.H723R mutation as heterozygous. However, novel mutation p.I713LfsX8 was not detected in 100 unrelated controls. CONCLUSION: Both mutations identified in this study were located in the sulfate transporter and anti-sigma factor antagonist domain, the core region for membrane targeting of SulP/SLC26 anion transporters, which strongly suggests that failure in membrane trafficking by SLC26A4 is a direct cause of HL in this family. Our study could therefore provide a foundation for further investigations elucidating the SLC26A4-related mechanisms of HL.
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Child , Female , Humans , Male , Young Adult , DNA , Fathers , Frameshift Mutation , Hearing Loss , Hearing , Heterozygote , Membranes , Mothers , Parents , Siblings , Vestibular AqueductABSTRACT
Objective To study the feasibility of the cochlear implantation and effects in the treatment of large vestibular aqueduct syndrome.Methods A total of 37 patients(74 ears)diagnosed with large vestibular aque-duct syndrome received cochlear implants since 2002 at the Renmin Hospital of Wuhan University.We made a retro-spectively analysis of these 37 patients(37 ears).While 37 patients(37 ears)with normal cochlear structures were considered as the control group.After activation,their speech perception at pre-operation and at 3,6,9,12 months affer the operation were evaluated.Their CAP and SIR scores were collected through questionnaires at each assess-ment interva1 .Results In LVAS group,5 patients(5 ears)had serious gusher,while no gusher was abserved in the control group.The two groups of the electrodes were all inserted in the cochlea.No serious complications occurred after implantation in the two groups.The impedance of the electrodes,the T level,C level and the hearing thresholds were similar with the normal group with cochlear implantations.The results had no significant differences when compared with the normal cochlear group (P>0.05).The speech perception ability,CAP and SIR scores were im-proved along with the increase time of implant use.At the same recovery time,the results had no significant differ-ence in the two groups(P>0.05).At the same group,the results between pre-operation and 3,6,9,12 months post-operation after device activation had significant differences (P<0.05).Conclusion Cochlear implants could be performed safely in patients with large vestibular aqueduct syndrome.The primary outcomes for patients with large vestibular aqueduct syndrome were similar to those with normal cochlear structure following the cochlear im-plantation.
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Objective To evaluate the correlation between the degree of cochlea endolymphatic hydrops(EH) and hearing loss and symptoms in patients with unilateral Meniere's disease. Methods Fifty seven patients with unilateral Meniere's patients were retrospectively quantitatively analyzed, which evaluated the correlation between the cochlea EH and hearing loss and symptoms. The affected ears in the experimental group(57 ears) and the asymptomatic ears in the control group(57 ears), were confirmed by bilateral intratympanic Gd-DTPA injection and 3D real IR MRI scan after 24 h. The maximum length of endolymph space and labyrinth chamber along the modiolus cochleae and their ratio which represented the endolymph space proportion of each turn(R1, the basal turn;R2, the middle turn;R3, the apical turn) were calculated. And the paired t test was used to compare the differences in EH degree between the experimental and control group;Pearson correlation analysis was used to analyze the correlation between the cochlea EH degree and hearing loss and duration of symptoms. Results R1, R1 and R3 of ipsilateral cochlea were higher than normal cochlea(ipsilateral R1:0.354±0.097 vs. normal R1:0.185±0.031, P0.05). In addition, there was a correlation between the degree of EH in the apical turn and low, medium, high-frequency hearing loss(r=0.271, 0.269, 0.329, respectively; all P<0.05). Conclusions The degree of cochlea EH in the basal and second turn showed great relevance with the high-frequency hearing loss, and the apical turn EH degree was relevant with the low, medium, high-frequency hearing loss, but there was no correlation between the EH degree of each turn, ages and symptoms.
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BACKGROUND AND OBJECTIVES: Mutations of the SLC26A4 gene cause congenital hearing loss and enlarged vestibular aqueduct (EVA). A considerable proportion of patients with SLC26A4 mutations have significant residual hearing at birth that eventually worsen and become the cause for cochlear implantation (CI) later in their adolescence or adulthood. We analyzed the auditory outcome and prognostic factors of CI in patients with EVA and biallelic SLC26A4 mutations showing progressive early-onset hearing loss, who eventually had implantation in their adolescent or adult periods. SUBJECTS AND METHOD: Sixteen patients with EVA carrying biallelic SLC26A4 mutations who received CI after 12 years of age were included for analysis. The outcome and prognostic factors of CI were analyzed. The postoperative follow-up period ranged from 3 to 48 months. RESULTS: The age at CI ranged from 12 to 44 years. The categories of auditory performance score was significantly improved after CI from 3.1 to 4.9 (p < 0.05). The mean sentence scores improved significantly in the auditory-visual and auditory-only conditions (p < 0.05). The significant prognostic factors were measurable bone conduction thresholds, preoperative residual hearing, recent history of sudden aggravation of hearing loss, and preoperative speech intelligibility rating scores. There was a tendency of lower postoperative sentence scores in the group with homozygous H723R mutation, but statistical significance was not reached. CONCLUSION: Despite the early-onset of hearing loss, significant improvement in auditory performance can be expected after CI in adolescent and adult patients with EVA and biallelic SLC26A4 mutations. Significant prognostic factors should be considered in selecting candidates and preoperative counseling for CI.
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Adolescent , Adult , Humans , Bone Conduction , Cochlear Implantation , Cochlear Implants , Counseling , Extravehicular Activity , Follow-Up Studies , Hearing , Hearing Loss , Methods , Parturition , Speech Intelligibility , Vestibular AqueductABSTRACT
Objective To discuss the clinical value of magnetic resonance imaging in the diagnosis of inner ear lesion.Methods 94 patients who took magnetic resonance imaging water imaging were selected as study subjects from February 2014 to October 2016 in Heilongjiang Province Hospital.All the patients had surgical data,CT,MRI water imaging data.Based on the standard data of surgery gold,analyzed the sensitivity,specificity,accuracy,positive predictive value and negative predictive value of CT and MRI in the diagnosis of inner ear lesions,compared the statistical differences between the two methods of examination.Results The sensitivity,specificity,positive predictive value and negative predictive value of MRI water imaging in diagnosis of inner ear werehigher than CT,but the differences were no statistically significant (all P ＞ 0.05).In the case of abnormal vestibular aqueduct (x2 =7.265,P =0.015),cochlear deformity (x2 =5.042,P =0.028),diagnostic accuracy of cochlear fibrosis (x2 =5.492,P =0.027),the differences were statistically significant(all P ＜ O.05).Conclusion MRI water imaging can effectively provide the information of ear canal,eudometrial and other internal organs,can provide a favorable clinical diagnosis,it is worth to promote the application in the clinical work.
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Objective To evaluate the role of c-Jun N-terminal kinase (JNK) in activation of astrocytes in midbrain periaqueductal gray (PAG) of rats with neuropathic pain.Methods A total of 72 pathogen-free male Sprague-Dawley rats,aged 9 weeks,weighing 160-200 g,were divided into 4 groups using a random number table:control group (group C,n =8),neuropathic pain group (group NP,n =40),dimethyl sulfoxide control group (group DS,n =12) and JNK inhibitor SP600125 group (group SP,n=12).Neuropathic pain was produced by chronic constriction injury (CCI).At 14 days after CCI,10 nmol JNK inhibitor SP600125 0.5 μl was intraperitoneally injected into the PAG in group SP,and 10％ dimethyl sulfoxide 0.5 μl was given instead in group DS.Eight rats were selected in group C,before CCI and at 3,7,14 and 21 days after CCI in group NP,and in DS and SP groups,and the mechanical pain threshold was measured before CCI,before administration on 14 days after CCI and at 30,45,60,75 and 90 min after administration.The rats in group C were sacrificed after the end of measurement of the mechanical pain threshold,and brains were removed for determination of phosphorylated JNK (p-JNK) and glial fibrillary acidic protein expression (by Western blot) in PAG region.The rats in group NP were sacrificed after the end of measurement of the mechanical pain threshold at each time point,and brains were removed for detection of p-JNK expression in PAG region.Four rats in DS and SP groups were sacrificed after the last measurement of the mechanical pain threshold at 45 min after administration,and brains were removed for determination of glial fibrillary acidic protein expression in PAG region.Results Compared with group C,the mechanical pain threshold was significantly decreased at each time point after CCI,and the expression of p-JNK was up-regulated at 7-21 days after CCI in group NP (P＜0.01).Compared with group DS,the mechanical pain threshold was significantly increased at 30 min after administration,and GFAP expression was down-regulated at 45 min after administration in group SP (P＜ 0.01).The mechanical pain threshold was significantly higher at 30-75 min after administration than before administration in group SP (P＜0.01).Conclusion The mechanism underlying activation of astrocytes in PAG is related to activating JNK in the rats with neuropathic pain.
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La gestión de los recursos hídricos en las zonas rurales depende en gran medida de la participación de las comunidades en la administración y en el uso del recurso. El presente estudio tiene como objetivo identificar los sistemas de gestión del recurso hídrico en las comunidades rurales de la cuenca del río Guayuriba. Dentro del marco metodológico este estudio de caso se aborda en el marco de la investigación exploratoria. Entre los resultados que se destacan, se identificaron diferentes formas de abastecimiento y disposición de las aguas residuales domésticas de acuerdo con el tipo de asentamiento, sean de población dispersa o aglomerada, y asimismo, la debilidad de las instituciones locales para gestionar el agua en este tipo de comunidades. Finalmente, este estudio de caso se podrá utilizar como herramienta para la gestión integral del recurso hídrico en la cuenca del río Guayuriba.
The management of water resources in rural areas depends, to a large extent, on the participation of communities in the administration and use of the resources. This study aims to identify the water resource management systems in rural communities of the Guayuriba river basin. Within the theoretical framework this case study is addressed from the exploratory research structure. Among the most protruding results, different forms of supply and disposal of domestic sweage water were identified according to the type of settlement, whether they are dispersed or agglomerated, and also the weakness of local institutions to manage and administer water in this type of communities was evident. Finally, this case study can be used as a tool for the comprehensive management of water resources in the Guayuriba river basin.
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Water Supply , Domestic EffluentsABSTRACT
Objective To evaluate the effect of the opioid switch from morphine to sufentanil on the expression of μ-opioid receptors in the midbrain periaqueductal gray (PAG) of rats.Methods Forty healthy male Wistar rats,aged 8 weeks,weighing 250-290 g,were randomly assigned into 5 groups (n=8 each) using a random number table:control group (group C),7 day sufentanil group (group S),7 day morphine group (group M),14 day morphine group (group MM),and 14 day alternate administration of morphine and sufentanil group (group MS).Normal saline 2 ml/kg,sufentanil 0.01 mg/kg and morphine 10 mg/kg were injected subcutaneously in the cervical region twice a day for 7 consecutive days in C,S and M groups,respectively.In group MM,morphine 10 mg/kg was injected subcutaneously in the cervical region twice a day for 14 consecutive days.In group MS,morphine 10 mg/kg was injected subcutaneously in the cervical region twice a day for 7 consecutive days (1st-7th days),and sufentanil 0.01 mg/kg was then injected subcutaneously in the cervical region twice a day for 7 consecutive days (8th-14th days).The tail flick latency (TFL) to a thermal nociceptive stimulus was measured at 15 and 30 min after the initial administration every day.After the last administration,the rats were sacrificed,and the midbrain PAG was isolated for determination of the expression of the μ-opioid receptor and μ-opioid receptor mRNA using Western blot and real-time reverse transcriptase polymerase chain reaction,respectively.Results Compared with group C,the TFL was significantly prolonged on 1st-6th days after the beginning of administration in M,MM and MS groups,the TFL was significantly prolonged on 1st-7th days after the beginning of administration in group S,and the expression of the μ-opioid receptor and μ-opioid receptor mRNA in the midbrain PAG was significantly down-regulated in M,MM and MS groups (P＜0.05).Compared with group MM,the TFL was significantly prolonged on 8th-14th days after the beginning of administration,and the expression of the μ-opioid receptor and μ-opioid receptor mRNA in the midbrain PAG was significantly up-regulated in group MS (P＜0.05).Conclusion The mechanism by which the opioid switch from morphine to sufentanil reduces morphine tolerance is related to enhanced activity of μ-opioid receptors in the midbrain PAG of rats.
ABSTRACT
Objective The molecular etiology of hearing impairment in Guangdong District has not been thor-oughly investigated.SCL26A4 gene mutation and relevant phenotype were analyzed in this study.Methods The coding exons of SLC26A4 were analyzed in 59 EVA cases.Those SLC26A4 gene mutations patients were examined by temporal bone CT.Results Fifty-nine cases were SLC26A4 mutations deafness patients,and 21 cases (35. 59%)and 38 cases (64.41%)patients with SLC26A4 biallelic allele (compound homozygous or heterozygous)and monoallelic gene mutation,including 16 cases of SLC26A4 gene IVS7-2 A> G homozygous mutations,2 cases of 2168A>G homozygous mutations and 3 cases of IVS7-2A>G,2168 A > G compound heterozygous mutations in children with CT showing bilateral enlarged vestibular aqueduct or other types of inner ear malformations.Thirty-one patients were IVS7-2A>G heterozygous for SLC26A4 mutation and seven 2168 A > G heterozygous muta-tion.Four patients with SLC26A4 gene mutations were confirmed to have enlarged vestibular aqueduct with Mondini dysplasia.Two patients with normal phenotype ,and others were enlarged vestibular aqueduct.Conclusion Muta-tions in the SLC26A4 gene with enlarged vestibular aqueduct patients were frequently found in Guangdong District.IVS7-2A>G mutations rate were highest,followed by 2168 A > G.We established the new strategy that detects SLC26A4 mutations prior to the temporal bone CT scan to find enlarged vestibular aqueduct and inner ear malforma-tion patients .