scholarly journals Establishment of a Gene Detection System for Hotspot Mutations of Hearing Loss

2018 ◽  
Vol 2018 ◽  
pp. 1-8
Author(s):  
Chao Wang ◽  
Shengzhou Wang ◽  
Hongyan Chen ◽  
Daru Lu
Keyword(s):  
Hearing Loss ◽  
Screening Program ◽  
Detection System ◽  
High Sensitivity ◽  
Extraction Process ◽  
Clinical Samples ◽  
12S Rrna ◽  
Gene Detection ◽  
Newborn Hearing ◽  
Hotspot Mutations

Hearing loss is an etiologically heterogeneous trait with a high incidence in China. Though conventional newborn hearing screening program has been widely adopted, gene detection can significantly improve the means of early discovering genetic risk factors. Thus, simple and efficient methods with higher sensitivity and lower cost for detecting hotspot mutations of hearing loss are urgently requested. Here we established a mutation detection system based on multiple fluorescent probe technique, which can detect and genotype nine hotspot mutations of four prominent hearing loss-related genes in two reactions on a four-channel real-time PCR instrument, includingGJB2(rs750188782, rs80338943, rs1110333204, and rs80338939),GJB3(rs74315319),SLC26A4(rs111033313 and rs121908362), andmtDNA 12S rRNA(rs267606617 and rs267606619). This system is with high sensitivity that enables detecting as low as 10 DNA copies samples per reaction. A comparison study in 268 clinical samples showed that the detection system had 100% concordance to Sanger sequencing. Besides, blood and saliva samples can be directly detected without DNA extraction process, which greatly simplifies the manipulation. The new system with high sensitivity, accuracy, and specimen type compatibility can be expectedly a reliable tool in clinical application.

Evaluation of the effectiveness of newborn hearing screening program in Zahedan: A cross-sectional study

2021 ◽  
Vol 15 (6) ◽  
pp. 2067-2071
Author(s):  
Gholam-Ali Dashti Khavidaki ◽  
Reza Gharibi
Keyword(s):  
Hearing Loss ◽  
Early Diagnosis ◽  
Screening Program ◽  
Hearing Screening ◽  
Newborn Hearing Screening ◽  
Cross Sectional ◽  
Screening Programs ◽  
Second Stage ◽  
Maternity Hospitals ◽  
Newborn Hearing

Introduction: Hearing loss is one of the most common congenital disorders. The prevalence of this disorder in different communities has been reported between 3.5 to 9 percent, which can have adverse effects on language learning, communication, and education of children. Also, early diagnosis of this disorder in newborns is not possible without the use of hearing screening. Therefore, the aim of this study was to evaluate the effectiveness of newborn hearing screening programs in Zahedan. Method: In this cross-sectional observational study, all babies born in the maternity hospitals of Zahedan city (maternity hospitals of Nabi Akram, Imam Ali, and Social Security hospitals) in 2020, were examined. In order to conduct the study, TEOAE was initially performed for all neonates. Then, based on the results obtained in the ODA test and in case of unsatisfactory response, cases were referred for re-evaluation. Infants who were rejected again in the second stage were immediately subjected to the AABR test and if they failed in this test, they were also subjected to a diagnostic ABR test. Results: Based on our results, 7700 infants were first evaluated with the OAE test. Of these, 580 (8%) had no OAE response. Out of 580 infants rejected in the first stage, 76 infants were also rejected in the second stage; Among them, 8 infants were re-diagnosed with hearing impairments. Finally, out of 3 infants who were diagnosed with hearing loss, 1 (33%) had conductive hearing loss and 2 (67%) had sensorineural hearing loss. Conclusion: Based on the findings of the present study, the implementation of a comprehensive neonatal hearing screening program is necessary for the timely and early diagnosis and treatment of hearing loss. Also, screening can improve the health of children and their personal, social, and educational development in the future. Keywords: Hearing screening, hearing loss, newborns, OAE, AABR

scholarly journals Hearing evaluation of infants suspected of having hearing loss with a newborn hearing screening program

2005 ◽  
Vol 48 (2) ◽  
pp. 135-141 ◽  
Author(s):  
Shoichiro Fukuda ◽  
Naomi Toida ◽  
Kunihiro Fukushima ◽  
Yuko Kataoka ◽  
Kazunori Nishizaki
Keyword(s):  
Hearing Loss ◽  
Screening Program ◽  
Hearing Screening ◽  
Newborn Hearing Screening ◽  
Newborn Hearing ◽  
Hearing Evaluation

scholarly journals Multiplex and On-site PCR detection of swine diseases based on the microfluidic chip system

2020 ◽  
Author(s):  
Yan Jiang ◽  
Shan Jiang ◽  
Yue Wu ◽  
Bin Zhou ◽  
Kaiming Wang ◽  
...  
Keyword(s):  
High Throughput ◽  
Microfluidic Chip ◽  
Detection System ◽  
Sampling Site ◽  
High Sensitivity ◽  
Pcr Detection ◽  
Clinical Samples ◽  
Pathogenic Microorganisms ◽  
Real Time Quantitative Pcr ◽  
Inspection And Quarantine

Abstract Background： At present, the process of inspection and quarantine starts with sampling at the customs port, continues with transporting the samples to the central laboratory for inspection experiments, and ends with the inspected results being fed back to the port. This process had the risks of degradation of biological samples and generation of pathogenic microorganisms and did not meet the rapid on-site detection demand because it took a rather long time. Therefore, it is urgently needed to develop a rapid and high-throughput detection assay of pathogenic microorganisms at the customs port. The aim of this study was to develop a microfluidic chip to rapidly detect swine pathogenic microorganisms with high-throughput and higher accuracy. Moreover, this chip will decrease the risk of spreading infection during transportation.Results: A series of experiments were performed to establish a microfluidic chip. The resulting data showed that the positive nucleic acid of four swine viruses were detected by using a portable and rapid microfluidic PCR system, which could achieve a on-site real-time quantitative PCR detection. Furthermore, the detection results of eight clinical samples were obtained within an hour. The detection limit of this microfluidic PCR detection system was as low as 1 copies/μL. The results showed that the high sensitivity and specificity of this chip system in disease detection played an important role in customs inspection and quarantine during customs clearance.Conclusion: The microfluidic PCR detection system established in this study could meet the requirement for rapid detection of samples at the customs port. This chip could avoid the risky process of transporting the samples from the sampling site to the testing lab, and drastically reduce the inspection cycle. Moreover, it would enable parallel inspections on one chip, which greatly raised the efficiency of inspection.

scholarly journals Characteristics of infants and young children with sensorineural hearing loss in Dr. Soetomo Hospital

2018 ◽  
Vol 48 (1) ◽  
pp. 11
Author(s):  
Nyilo Purnami ◽  
Cintya Dipta ◽  
Mahrus Ahmad Rahman
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Otoacoustic Emissions ◽  
Screening Program ◽  
Sensorineural Hearing ◽  
International Standard Organization ◽  
Newborn Hearing Screening ◽  
Newborn Hearing ◽  
Standard Organization ◽  
In Infants And Children

Background: Hearing loss is one of the congenital abnormalities frequently found in children, which is followed by delayed speech and language development. The majority of cases have unknown causes of hearing loss resulting in late diagnosis. Newborn Hearing Screening Program (NHSP) recommended Otoacoustic Emissions (OAE) and Brainstem Evoked Response Audiometry (BERA) as detection of hearing loss in infants and children. Objective: To obtain the prevalence and description of sensorineural hearing loss in infants and children. Method: A retrospective descriptive study of infants underwent OAE and BERA between 2011-2013 at Dr Soetomo Hospital. The degree of hearing loss was according to the International Standard Organization (ISO). Result: A total number of 552 infant and children were examined, and 377 (68%) were detected with sensorineural hearing loss (SNHL). This group of SNHL consisted of 199 males (52.79%) and 178 females (47.21%). The largest age group was 12 to 36 months, revealed 237 patients (62.86%) with SNHL. The majority degree of hearing loss was profound hearing loss in 329 patients (87.27%). The risk factors of SNHL mostly were not found, in 310 patients (82.23%). The majority number of SNHL was bilateral, in 357 patients (94.69%). Conclusion: SNHL was found in majority of infant and children in the Audiology Clinic of Dr.Soetomo Hospital. The hearing loss found were mostly profound and bilateral, with unknown risk factors, which might contribute to speech and language developmental delay. This is relevance with the Universal NHSP recommendation that early detection should be implemented to all newborn. ABSTRAK Latar belakang: Gangguan pendengaran adalah salah satu kelainan kongenital yang sering ditemukan, dan berpengaruh pada perkembangan bicara dan bahasa anak. Sebagian besar gangguan pendengaran tidak jelas ada faktor risikonya, sehingga tidak segera terdeteksi. Bila tidak dilakukan deteksi dini, akan menyebabkan keterlambatan diagnosis dan intervensi. Telah direkomendasikan oleh Newborn Hearing Screening Program (NHSP) pemeriksaan Otoacoustic Emissions (OAE) dan Brainstem Evoked Rresponse Audiometry (BERA) sebagai alat deteksi dini gangguan pendengaran pada bayi dan anak. Tujuan: Mendapatkan prevalensi dan deskripsi gangguan pendengaran sensorineural pada bayi dan anak. Metode: Penelitian deskriptif retrospektif dengan mengumpulkan data subjek periode 2011- 2013 di Rumah Sakit Dr.Soetomo. Pemeriksaan OAE menggunakan Distortion Product Otoacoustic Emissions. Pemeriksaan BERA berdasarkan International Standard Organization (ISO). Hasil: Terdapat sebanyak 377 pasien (68%) dengan gangguan pendengaran sensorineural dari total 552 bayi dan anak. Pada kelompok umur 12 sampai 36 bulan didapati gangguan pendengaran sensorineural tertinggi sebanyak 237 (62,86%) pasien. Sebagian besar pasien laki-laki sebanyak 199 (52,79%). Mayoritas pasien mengalami gangguan pendengaraan derajat sangat berat sebanyak 329 (87,287%) dari total 377 penderita. Mayoritas faktor risiko dari gangguan pendengaran yang tidak diketahui sebanyak 310 kasus (82,23%), dan mayoritas penderita mengalami gangguan pendengaran sensorineural bilateral sebanyak 357 (94,69%). Kesimpulan: gangguan pendengaran sensorineural ditemukan terbanyak pada bayi dan anak di Klinik Audiologi RSUD Dr. Soetomo. Derajat keparahan terbanyak adalah profound, dan ditemukan terbanyak bilateral. Faktor risiko yang tidak diketahui terbanyak ditemukan, dan bisa merupakan faktor yang berpengaruh pada kejadian lambat bicara dan berbahasa. Temuan ini sesuai dengan rekomendasi program skrining pendengaran yang seharusnya diterapkan pada semua bayi baru lahir.

scholarly journals Multiplex and On-site PCR detection of swine diseases based on the microfluidic chip system

2021 ◽  
Author(s):  
Yan Jiang ◽  
Shan Jiang ◽  
Yue Wu ◽  
Bin Zhou ◽  
Kaiming Wang ◽  
...  
Keyword(s):  
High Throughput ◽  
Microfluidic Chip ◽  
Detection System ◽  
Sampling Site ◽  
High Sensitivity ◽  
Pcr Detection ◽  
Clinical Samples ◽  
Pathogenic Microorganisms ◽  
Real Time Quantitative Pcr ◽  
Inspection And Quarantine

Abstract Background: At present, the process of inspection and quarantine starts with sampling at the customs port, continues with transporting the samples to the central laboratory for inspection experiments, and ends with the inspected results being fed back to the port. This process had the risks of degradation of biological samples and generation of pathogenic microorganisms and did not meet the rapid on-site detection demand because it took a rather long time. Therefore, it is urgently needed to develop a rapid and high-throughput detection assay of pathogenic microorganisms at the customs port. The aim of this study was to develop a microfluidic chip to rapidly detect swine pathogenic microorganisms with high-throughput and higher accuracy. Moreover, this chip will decrease the risk of spreading infection during transportation.Results: A series of experiments were performed to establish a microfluidic chip. The resulting data showed that the positive nucleic acid of four swine viruses were detected by using a portable and rapid microfluidic PCR system, which could achieve a on-site real-time quantitative PCR detection. Furthermore, the detection results of eight clinical samples were obtained within an hour. The detection limit of this microfluidic PCR detection system was as low as 1 copies/μL. The results showed that the high sensitivity and specificity of this chip system in disease detection played an important role in customs inspection and quarantine during customs clearance.Conclusion: The microfluidic PCR detection system established in this study could meet the requirement for rapid detection of samples at the customs port. This chip could avoid the risky process of transporting the samples from the sampling site to the testing lab, and drastically reduce the inspection cycle. Moreover, it would enable parallel inspections on one chip, which greatly raised the efficiency of inspection.

scholarly journals Evaluation of the Newborn Hearing Screening Program in The Medical City based on Joint Commission on Infant Hearing (JCIH) 2007 Position Statement Quality Indicators

2018 ◽  
Vol 33 (1) ◽  
pp. 21-24 ◽  
Author(s):  
Mary Harmony B. Que ◽  
Maria Rina T. Reyes-Quintos
Keyword(s):  
Hearing Loss ◽  
Quality Indicators ◽  
Screening Program ◽  
Position Statement ◽  
Hearing Screening ◽  
Newborn Hearing Screening ◽  
Response Test ◽  
Newborn Hearing ◽  
Medical City ◽  
Brainstem Response

Objective : The objective of this study is to evaluate the newborn hearing screening program in The Medical City based on the Joint Committee on Infant Hearing (JCIH) 2007 Position Statement Quality Indicators. Methods: Study Design: Cross - Sectional Survey Setting:           Tertiary Private Hospital Participants : All newborns who underwent newborn hearing screening in The Medical City for the year 2015. Results: Of 2,010 patients delivered in the hospital in year 2015, 1,986 (98.8%) were screened.  Among the 59 babies with initial “refer” results, 15 (25.42%) “referred” a second time while 24 (40.68%) “passed” the rescreening. Twenty (33.89%) did not undergo rescreening (10 were classified as dropouts, while another 10 did not undergo rescreening for various reasons. Of those who “referred” during rescreening, only 9 (60%) had further evaluation done with ABR/ASSR. Among these, 4 (26.66%) had hearing loss and proceeded with the appropriate monitoring and management while 5 (33.33%) had normal hearing. Conclusion : The current newborn hearing screening program in the Medical City was able to reach JCIH 2007 quality indicators for screening but not for confirmation of hearing Loss. All patients with hearing loss were managed with early rehabilitation. Keywords: Newborn hearing screening, otoacoustic emission test, auditory brainstem response test, auditory steady state response test

scholarly journals Prevalence of hearing impairment and outcome of universal neonatal hearing screening program in a tertiary care hospital – in UAE

2021 ◽  
Vol 11 (3) ◽  
pp. 40-44
Author(s):  
Mahmoud Saleh ElHalik ◽  
Swarup Kumar Dash ◽  
Arif Moinuddin Faquih ◽  
Rim Aref Mahfouz ◽  
Faseela Shejee ◽  
...  
Keyword(s):  
Intensive Care Unit ◽  
Hearing Loss ◽  
Intensive Care ◽  
Neonatal Intensive Care Unit ◽  
Neonatal Intensive Care ◽  
Screening Program ◽  
Tertiary Care ◽  
Hearing Screening ◽  
Newborn Hearing Screening ◽  
Newborn Hearing

Background and objective: Hearing loss is one of the most common congenital anomalies, occurring in 1 to 3 per 1000 newborn infants in the well-baby nursery population, and 2 to 4 per 100 infants in the Neonatal intensive care unit graduates. The aim of the study is to identify babies with potential hearing loss and direct them to early intervention and rehabilitation. The program also initiated to create awareness about the need for detecting childhood deafness among parents and general population. An estimate of coverage, prevalence and proportion of babies defaulting newborn hearing screening program and diagnostic evaluation monitored closely to find the effectiveness of the program. Study design: This is a retrospective study and was conducted at Latifa women and children’s hospital (LWCH), a tertiary care referral hospital at Dubai, United Arab Emirates, over a period of two years from January 2018 to December 2019. Neonates admitted in Neonatal intensive care unit (NICU) and Post Natal wards (PNW) were screened. We followed three tier approach of hearing screening. All eligible neonates were subjected to Transient Evoked Oto-acoustic emission (TEOAE) prior to discharge. Automated auditory brainstem response (AABR) hearing screening was conducted in neonates who did not pass TEOAE test. Infant who failed second screening (AABR) were subjected to comprehensive hearing evaluation prior to three months of age. Results: Out of the total 7923 neonates, 7895(99.65%) were screened and 118 (1.49%) newborns referred for comprehensive audiological evaluation. Among them, 27(0.34%) were identified with various degrees of hearing loss. The prevalence of hearing loss was found to be 0.16% and 0.92% among neonates from PNW and NICU respectively. Conclusion: Implementation of Universal newborn hearing screening program is the need of the hour, as early detection of Hearing loss will aid early rehabilitation and better outcomes.

Conductive Hearing Loss and Middle Ear Pathology in Young Infants Referred through a Newborn Universal Hearing Screening Program in Australia

2012 ◽  
Vol 23 (09) ◽  
pp. 673-685 ◽  
Author(s):  
Sreedevi Aithal ◽  
Venkatesh Aithal ◽  
Joseph Kei ◽  
Carlie Driscoll
Keyword(s):  
Hearing Loss ◽  
Middle Ear ◽  
Chart Review ◽  
Conductive Hearing Loss ◽  
Screening Program ◽  
Hearing Screening ◽  
Diagnostic Assessment ◽  
Newborn Hearing Screening ◽  
Newborn Hearing ◽  
Conductive Hearing

Background: Although newborn hearing screening programs have been introduced in most states in Australia, the prevalence of conductive hearing loss and middle ear pathology in the infants referred through these programs is not known. Purpose: This study was designed to (1) evaluate the prevalence of conductive hearing loss and middle ear pathology in infants referred by a newborn hearing screening program in north Queensland, (2) compare prevalence rates of conductive hearing loss and middle ear pathology in indigenous and nonindigenous infants, and (3) review the outcomes of those infants diagnosed with conductive hearing loss and middle ear pathology. Research Design: Retrospective chart review of infants referred to the Audiology Department of The Townsville Hospital was conducted. Study Sample: Chart review of 234 infants referred for one or both ears from a newborn hearing screening program in north Queensland was conducted. A total of 211 infants attended the diagnostic appointment. Review appointments to monitor hearing status were completed for 46 infants with middle ear pathology or conductive hearing loss. Data Collection and Analysis: Diagnosis of hearing impairment was made using an age-appropriate battery of audiological tests. Results were analyzed for both initial and review appointments. Results: Mean age at initial diagnostic assessment was 47.5 days (SD = 31.3). Of the 69 infants with middle ear pathology during initial diagnostic assessment, 18 had middle ear pathology with normal hearing, 47 had conductive hearing loss, and 4 had mixed hearing loss. Prevalence of conductive hearing loss in the newborns was 2.97 per 1,000 while prevalence of middle ear pathology (with or without conductive hearing loss) was 4.36 per 1,000. Indigenous Australians or Aboriginal and Torres Strait Islander (ATSI) infants had a significantly higher prevalence of conductive hearing loss and middle ear pathology than non-ATSI infants (35.19 and 44.45% vs 17.83 and 28.66%, respectively). ATSI infants also showed poor resolution of conductive hearing loss over time with 66.67% of ATSI infants reviewed showing persistent conductive hearing loss compared to 17.86% of non-ATSI infants. Medical management of 17 infants with persistent conductive hearing loss included monitoring, antibiotic treatment, examination under anesthesia, and grommet insertion. Conclusions: Conductive hearing loss was found to be a common diagnosis among infants referred through screening. ATSI infants had significantly higher rates of middle ear pathology and conductive hearing loss at birth and showed poor resolution of middle ear pathology over time compared to non-ATSI infants. Future research using a direct measure of middle ear function as an adjunct to the automated auditory brainstem response screening tool to distinguish conductive from sensorineural hearing loss may facilitate prioritization of infants for assessment, thus reducing parental anxiety and streamlining the management strategies for the respective types of hearing loss.

Practicality, Validity, and Cost-Efficiency of Universal Newborn Hearing Screening Using Transient Evoked Otoacoustic Emissions

1995 ◽  
Vol 17 (1) ◽  
pp. 9-14 ◽  
Author(s):  
Karl R. White ◽  
Thomas R. Behrens ◽  
Bonnie Strickland
Keyword(s):  
Hearing Loss ◽  
Otoacoustic Emissions ◽  
Screening Program ◽  
The United States ◽  
Hearing Screening ◽  
Newborn Hearing Screening ◽  
Transient Evoked Otoacoustic Emissions ◽  
Screening Programs ◽  
Universal Newborn Hearing Screening ◽  
Newborn Hearing

Although the importance of identifying significant hearing loss at an early age has long been recognized, it is generally acknowledged that newborn hearing screening programs in the United States have not been very successful. The problem has been that available techniques were impractical, too expensive, or invalid. This article summarizes the data regarding the use of transient evoked otoacoustic emissions (TEOAE) in a universal newborn hearing screening program and describes various facets of program implementation. It is concluded that available data provide clear evidence that TEOAE can be used to significantly reduce the average age of identification for hearing loss in the U.S.

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