Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in Bilateral Deafness Patients with Inner Ear Malformation

2012 ◽  
Vol 146 (6) ◽  
pp. 972-978 ◽  
Author(s):  
Kaitian Chen ◽  
Xianren Wang ◽  
Liang Sun ◽  
Hongyan Jiang
Keyword(s):  
Inner Ear ◽  
Hearing Impairment ◽  
Pathogenic Mutation ◽  
Cross Sectional Study ◽  
Chinese Patients ◽  
Cross Sectional ◽  
Direct Dna Sequencing ◽  
Inner Ear Malformation ◽  
Ear Malformations ◽  
Gjb2 Mutations

Objective. Bilateral nonsyndromic sensorineural hearing loss associated with inner ear malformation is closely related to genetics. SLC26A4 is considered to be the major involved gene. Recently, FOXI1 and KCNJ10 mutations have been linked to enlarged vestibular aqueducts and GJB2 mutations linked to temporal bone malformation. The authors aimed to investigate the mutation spectrums of these genes in Chinese patients with bilateral hearing impairment associated with inner ear malformation. Study Design. Cross-sectional study. Setting. Affiliated hospital of the university. Subjects and Methods. The authors analyzed the GJB2, SLC26A4, FOXI1, and KCNJ10 gene sequences in 43 patients presenting with bilateral hearing impairment associated with inner ear malformation using pyrosequencing and direct DNA sequencing. Results. In total, 74.4% (32/43) of patients carried at least 1 of 14 pathogenic SLC26A4 mutations, including 6 novel mutations and 4 polymorphisms. Patients with enlarged vestibular aqueducts had a higher rate of SLC26A4 mutation than Mondini dysplasia patients. No FOXI1 or KCNJ10 potential pathogenic mutation was present, and GJB2 biallelic pathogenic mutations were uncommon (2.3%; 1/43). No significant correlation was observed between the genotype and phenotype of SLC26A4 mutations. Conclusion. SLC26A4 accounts for 74.4% of inner ear malformations in our cohort, whereas FOXI1, KCNJ10, and GJB2 mutations are not common. Other possible genes or external factors may contribute to this multibranch abnormality.

scholarly journals Imaging in a Rare Case of Unilateral External and Middle Ear Anomalies Associated with Inner Ear Malformation

2021 ◽  
Author(s):  
Anagha R. Joshi ◽  
Anisha O. Talreja ◽  
Mrinalini M. Rahatgaonkar ◽  
Harshal A. Badgujar
Keyword(s):  
Inner Ear ◽  
Middle Ear ◽  
Critical Role ◽  
Cross Sectional ◽  
Pediatric Age Group ◽  
Inner Ear Malformation ◽  
Ear Malformations ◽  
Cross Sectional Imaging ◽  
Ear Anomalies ◽  
Speech And Language Development

AbstractExternal ear malformations are commonly associated with middle ear malformations due to their closely related embryogenesis. Inner ear anomalies are less consistently seen due to their independent development. Cross-sectional imaging has come to play a critical role in the workup of congenital deafness in the pediatric age group. To optimize speech and language development, early diagnosis and treatment are very crucial. Identification of these anomalies is additionally important when operative intervention is being planned because they may complicate or perhaps preclude the surgery.

Pengaruh bising lalu lintas terhadap penurunan fungsi pendengaran pada juru parkir di kota Denpasar

2013 ◽  
Vol 40 (2) ◽  
Author(s):  
Ni Ketut Susilawati ◽  
Wayan Sudana ◽  
Eka Putra Setiawan
Keyword(s):  
Hearing Impairment ◽  
Noise Exposure ◽  
Traffic Noise ◽  
Hearing Threshold ◽  
Noise Pollution ◽  
Simple Random Sampling ◽  
Cross Sectional Study ◽  
Control Group ◽  
Cross Sectional ◽  
Hearing Function

Background: Noise pollution or noise is an unwanted sound which is disturbing to human beings.However small or soft the sound, if it is undesirable it is considered as noise. Noise induced hearingloss is a sensorineural hearing loss that is commonly encountered second to presbycusis. Purpose: Toknow the effect of traffic noise exposure on hearing impairment to the employees of the Parking DistrictCompany of the Denpasar city and to improve diagnostic detection on hearing impairment caused bynoise. Method: A cross sectional study was conducted at the Parking District Company office. Thepopulations of this study were the employees of the Parking District Company. Samples of this study were the employees who were exposed to traffic noise and control samples were an employee who was unexposed. Samples were selected by simple random sampling. Results: From 40 parking attendants,27 persons (67.5%) aged above 35 years old. The parking attendants who had been working for ten to fifteen years were 36 persons (90%) and no history using ear protection when working. Seven persons(17.5%) had referred DPOAE upon examination with increase hearing threshold on audiogram result.In this study the parking attendants who had hearing deficit induced by noise were 7 persons (17.5%)and only one person (2.5%) in control group. There was a statistically significant effect of traffic noiseto hearing function deficit (p<0.05). Conclusion: Traffic noise has effect in hearing function deficit onthe parking attendants.ORLI Vol. 40 No. 2 Tahun 2010Key words: NIHL, parking attendant, audiometry, DPOAE.

scholarly journals The relationship between the atherogenic index of plasma and arterial stiffness in essential hypertensive patients from China: a cross-sectional study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Juan Yin ◽  
Minghui Li ◽  
Lingling Yu ◽  
Feng Hu ◽  
Yu Yu ◽  
...  
Keyword(s):  
Essential Hypertension ◽  
Arterial Stiffness ◽  
Linear Regression Analysis ◽  
Cross Sectional Study ◽  
Atherogenic Index ◽  
Chinese Patients ◽  
Multivariate Linear Regression Analysis ◽  
Sectional Study ◽  
Cross Sectional ◽  
Atherogenic Index Of Plasma

Abstract Background The atherogenic index of plasma (AIP) always remains in a potential association with arterial stiffness, however, this association has not been fully discovered and needs to be studied in depth in large hypertensive patient populations. The present analysis thus sought to further explore the association that exists between AIP and arterial stiffness in Chinese patients diagnosed with arterial hypertension. Methods This cross-sectional study analyzed 4744 Chinese individuals with essential hypertension. AIP was defined as the base 10 logarithm of the ratio of plasma of triglycerides to high-density lipoprotein cholesterol levels indicated in molar concentrations. Measurement of arterial stiffness was carried out via brachial-ankle pulse wave velocity (baPWV). Results Data were adjusted for potential confounding variables, and multivariate linear regression analysis revealed AIP to be positively correlated with baPWV (β = 1.34, 95% CI: 0.96 to 1.72, P < 0.001). When AIP was instead treated as a categorical variable divided into quartiles, the same relationship was observed (P for trend < 0.001). We additionally found AIP and baPWV had a stronger positive association in individuals with a body mass index (BMI) < 24 kg/m2 (P for interaction < 0.05). Conclusion AIP and arterial stiffness were positively correlated in essential hypertension patients in China, especially in those with a BMI < 24 kg/m2. Clinical trial registration ChiCTR1800017274.

scholarly journals Identification of Ocular and Auditory Manifestations of Congenital Rubella Syndrome in Mbingo

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Imran Jivraj ◽  
Chris J. Rudnisky ◽  
Emmanuel Tambe ◽  
Graham Tipple ◽  
Matthew T. S. Tennant
Keyword(s):  
Hearing Impairment ◽  
Cross Sectional Study ◽  
Normal Hearing ◽  
Congenital Rubella Syndrome ◽  
Congenital Glaucoma ◽  
Fundus Photography ◽  
Igg Antibody ◽  
Case Definitions ◽  
Cross Sectional ◽  
Congenital Rubella

Purpose. Congenital rubella syndrome (CRS) is a global cause of preventable hearing impairment, blindness, and intellectual impairment. The present study sought to identify ocular and auditory manifestations of CRS in school-aged children in Mbingo, Cameroon.Design. Cross sectional study.Subjects. Students at two schools, one for children with hearing impairment, were screened for cataract, congenital glaucoma, and pigmentary retinopathy.Methods. Students underwent seven-field digital fundus photography through a dilated pupil using a Topcon NW200 nonmydriatic camera. Images were assessed by retina specialists in Canada via teleophthalmology. Clinical evidence was integrated to form case definitions for CRS based on Center for Disease Control and Prevention guidelines. Serological evidence of rubella infection was obtained using standardized IgG antibody titers.Main Outcome Measure. Number of probable and suspicious cases of CRS.Results. Between September 2009 and May 2010, 320 students participated. There were 28 (10.2%) probable cases, 104 (37.8%) suspects, and 143 (52.0%) unaffected. Rubella IgG serology was positive in 79 (48.7%) of children with hearing impairment and 11 (7.4%) of children with normal hearing.Conclusions. The present study identified 28 probable cases of CRS. Furthermore, 92.6% of students with normal hearing did not possess rubella IgG antibodies making future cases of CRS likely without intervention.

A study on the proportion of hearing impairment among percussionists in Thrissur district of Kerala

2021 ◽  
Vol 9 (3) ◽  
pp. 816
Author(s):  
Jubina Bency A. T. ◽  
Sarangi . ◽  
Sebastian Roy ◽  
Shalu Sara Mathew ◽  
Shamseena A. ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Hearing Impairment ◽  
Work Experience ◽  
Health Care Services ◽  
Cross Sectional Study ◽  
Moderate Degree ◽  
Cross Sectional ◽  
Hearing Ability ◽  
Care Services ◽  
Mild Degree

Background: Hearing loss is a cause of global concern. Percussionists are exposed to greater levels of continuous or intermittent noise than others. Little is known about the relationship between percussion activity and hearing impairment. The early detection of the same and subsequent management makes a significant reduction in the burden of health care services. The objective was to study the proportion of hearing impairment in percussionists in the district of Thrissur using an IOS based mobile application.Methods: A cross sectional study was done on percussionists from Thrissur district who has experience of more than five years and has no congenital or traumatic hearing loss. A predesigned semi structured questionnaire was given and hearing tests were done using a mobile application U hear in a sound proof setting to understand the current state of hearing ability amoung the percussionists.Results: A total of 39 subjects were involved in our study of which all were males. Mean age of our study population was 30.44+12.04. most of them were diagnosed with at least mild degree of hearing loss of one of the ear or both the ears. 15.4% of them had mild degree of hearing loss, 64.1% had moderate degree of hearing loss and 20.5% had severe hearing loss.Conclusions: The study shows percussionists are more exposed to sounds of various frequencies for longer duration, they are more prone to hearing loss. The study brought out that age is directly proportional to hearing loss, music induced hearing loss progress at a rate proportion to the work experience. 

scholarly journals High expression of E-cadherin and Ki-67 associated with functional/dysfunctional phenotypes of tumor-infiltrating lymphocytes among Chinese patients with operable breast cancer

2018 ◽  
Vol 46 (12) ◽  
pp. 5219-5227 ◽  
Author(s):  
Ruibin Wang ◽  
Feng Shi ◽  
Lin Zhao ◽  
Yanjie Zhao ◽  
Guangjiang Wu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Tumor Infiltrating Lymphocytes ◽  
Cross Sectional Study ◽  
Clinicopathological Features ◽  
Chinese Patients ◽  
Ki 67 ◽  
Cross Sectional ◽  
Cell Counts ◽  
Infiltrating Lymphocytes ◽  
E Cadherin

Objective Breast cancer has become the most common cancer in women in China, and the clinicopathological features differ from those in Western patients. This study was performed to investigate the distribution of programmed cell death protein 1 (PD-1)+/PD-1− tumor-infiltrating lymphocytes (TILs) and its association with clinicopathological features among Chinese patients with breast cancer. Methods In total, 133 consecutive patients with primary breast cancer were recruited into this cross-sectional study from 2012 to 2013. TILs were measured by cell counts under high-power fields (HPFs). Immunohistochemistry was used to detect PD-1 expression on tumor-infiltrating lymphocytes in the microenvironment. Results The median cell counts of the overall TILs, PD-1+ TILs, and PD-1− TILs were 80, 18, and 55/HPF, respectively. The number of PD-1− TILs was significantly lower in older than younger patients (50 vs. 60/HPF). Patients with positive E-cadherin expression had more PD-1− TILs than patients with negative E-cadherin expression (57 vs. 27/HPF). The Ki-67 index was positively correlated with the cell counts of PD-1+ TILs, and the correlation coefficient was 0.29. Conclusions PD-1 expression on TILs had different clinicopathological features in Chinese patients with breast cancer. E-Cadherin expression was associated with PD-1− TILs; however, Ki-67 expression was associated with PD-1+ TILs.

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