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Background: This study aimed to assess the quality of global guidelines or consensus statements for newborn and childhood hearing screening, as well as to compare various guidelines between other countries and China.Methods: A PROSPERO registered systematic review (number CRD42021242198) was conducted. Multiple electronic databases and government websites including PubMed, EMBASE, Web of Science, CENTRAL, Cochrane Library, and BMJ Best Practice were searched from inception until May 2021. The latest national and international guidelines, consensus statements, technical specifications, and recommendations regarding newborn or childhood hearing screening that were published in Chinese or English medical journals or elsewhere with the full version available online. The following information was extracted independently by two reviewers for comparative analysis: titles, authors, publication year, country, the source organization, and main key recommendations using systems for assigning the level of evidence and strength of recommendations. The quality of the guidelines was assessed by three independent reviewers using the Appraisal of Guidelines for Research and Evaluation, 2nd edition. Intraclass correlation coefficients (ICCs) were calculated to assess among-reviewer agreement.Results: We assessed 15 newborn and 6 childhood hearing screening guidelines, respectively. Most newborn guidelines recommend the 1-3-6 guidelines and pre-discharge screening; however, the specific screening times differ. 93.33% of newborn hearing guidelines recommend "primary screening-re-screening-diagnosis-intervention" for well-babies while 73.33% of the guidelines recommend "initial screening-diagnosis-intervention" for newborns in neonatal intensive care unit (NICU); 33.33% of the newborn hearing guidelines recommended initial screening coverage of > 95% while 46.66% did not mention it. Further, 26.66% of the newborn hearing guidelines recommended a referral rate to diagnosis within 4% while 60% did not mention it. Regarding childhood hearing screening guidelines, the screening populations differed across guidelines (age range: 0-9 years); most guidelines recommend pediatric hearing screening for all preschoolers. Only 50% of the guidelines specify screening and re-screening techniques, including pure-tone hearing screening, OAE, tympanometry, and others. The "Clarity of Presentation" domain achieved the highest mean score, and the lowest was "Editorial Independence" both in newborn and childhood guidelines. Overall score of newborn hearing screening guidelines ranged from 3 (2018 Europe) to 7 (2019 America), with an average score of 5.33. Average score of childhood hearing screening guidelines was 4.78, with the score ranging from 4 (2017 England, 2012 Europe, 2016 WHO) to 6.67 (2011 America). ICC analysis revealed excellent agreement across 21 guidelines (> 0.75).Conclusions: These findings indicated newborn hearing screening guidelines had superior quality over childhood ones. Comparative analysis suggested that recommendations of the Chinese newborn and pediatric hearing screening protocols are consistent with the mainstream international opinion. Moreover, this analysis demonstrated that "Editorial Independence" and "Stakeholder Involvement" have the greatest opportunities for improvement. These results may help to advance the quality of hearing screening guidelines in clinical practice and guide evidence-based updates. [ABSTRACT FROM AUTHOR]

Abstract Objectives To identify second-allele variant in infants with a known single-allele mutation of the SLC26A4 gene and to determine the frequency of their occurrence; and to investigate the clinical audiological characteristics of infants with bi-allelic mutations in SLC26A4. Methods The study subjects were 371 patients with a single-allele SLC26A4 mutation detected by neonatal deafness gene screening (4 genes and 9 pathogenic variants) who were treated at the otology outpatient department of Beijing Tongren Hospital. The exonic and flanking splice site regions of the SLC26A4 gene were sequenced for all patients. All patients with bi-allelic SLC26A4 mutations underwent audiological evaluation, and some also underwent temporal bone computed tomography and/or inner ear magnetic resonance imaging. Results Of the 371 patients, 314 (84.64%) had an c.919-2A > G heterozygous mutation and 57 (15.36%) had a c.2168A > G (p.H723R) heterozygous mutation. 13 patients (3.50%) had a second-allele variant, including 11 (2.96%) with pathogenic mutations and 1 (0.27%) with a likely benign variant. Of the 13 patients with bi-allelic mutations, 11 had hearing loss and 2 had normal hearing, the latter of whom had c.919-2A > G/c.1766A > G and c.919-2A > G/c.757A > G compound heterozygous mutations, respectively. Four of the 13 patients with bi-allelic mutations had passed the universal newborn hearing screening, including 2 cases (15.38%) with hearing loss. The most prevalent degree of hearing loss was profound (40.91%), followed by severe (36.36%). The most prevalent audiometric configuration was sloping hearing loss (50.00%), followed by flat-type hearing loss (40.91%). Conclusions This is the first report in China of the frequency of occurrence of second-allele variant in infants with a known single-allele mutation of the SLC26A4 gene; the frequency was 3.50% for any type of variant and 2.96% for pathogenic mutations. A novel variant, c.1766A > G (p.Q589R), which is likely benign, was identified. The pathogenicity of c.757A > G (p.I253V) mutation deserves more in-depth research. For infants with bi-allelic SLC26A4 mutations, the degree of hearing loss was mainly severe-to-profound and the audiometric configuration was mainly sloping. [ABSTRACT FROM AUTHOR]

The concentrations of Carbonyl in 40 urban residences in Beijing were measured in this study. The carbonyls in indoor air were collected by a DNPH-pre-treated cartridge, extracted by acetonitrile and analyzed by HPLC. A questionnaire was administrated to the residents in order to collect the information of building characteristics and human health conditions. The total concentrations of carbonyls were 136.0±77.5 μg/m 3 . Formaldehyde was the most abundant species with concentrations of 64.4±39.7 μg/m 3 , following by acetaldehyde, acetone, and hexaldehyde. The indoor source strengths of carbonyl species were estimated with One-compartment mass balance model. The indoor source strengths of formaldehyde acetaldehyde, acetone and hexaldehyde were estimated to be 11.6 mg/h, 4.41 mg/h, 1.17 mg/h, and 4.85 mg/h, respectively. Analysis of variance (ANOVA) was employed to examine the impacts of possible factors on the carbonyl concentrations. We found that sofa material, smoking and residence location had significant impacts on formaldehyde concentration, smoking and kitchen structure on acetaldehyde, quantity of plants and kitchen structure on acetone, quantity of plants and pesticide on hexaldehyde, respectively. [ABSTRACT FROM AUTHOR]

The present study aimed to determine the status of a universal newborn hearing screening (UNHS) program being conducted in parts of China, by comparing differences in the program findings between 2016 and 2017, as well as across regions in China. This study investigated a nationally representative sample of newborns from 26 provinces, autonomous regions, and municipalities in mainland China. A "Newborn Hearing Screening Survey" questionnaire was sent to 43 hearing screening institutions throughout China and the data were analyzed, with appropriate quality control throughout the study process. Twenty-six questionnaires, covering 55.88% (19/34) of the provincial administrative regions in China were appropriately completed. The overall sampling frame comprised 238,795 (year 2016) and 229,185 (year 2017) newborns, respectively. We found differences between two years, the initial screening coverage in 2017 (96.10%) was higher than that in 2016 (94.96%); the referral rate at initial screening in 2017 (9.21%) was lower than that in 2016 (10.26%); and the rescreening rate in 2017 (73.50%) was higher than that in 2016 (68.44%). We found differences across three regions, the rescreening rate were highest in West China, the referral rate at rescreening and the referral rate to diagnostic audiological assessment diagnosis were both highest, while the hearing-loss rate was lowest, in the East China in two years. Overall, 61.54% (n = 16) reported using otoacoustic emissions (OAEs), while 38.46% (n = 10) reported using OAEs in combination with automated auditory brainstem response (AABR) tests, for the initial screening. For rescreening, most sites (n = 19, 73.08%) reported using OAEs in combination with AABR, followed by OAEs only (n = 4, 15.38%) and AABR only (n = 3, 11.54%). Of the twenty-six institutions, 57.69% (n = 15) were equipped with a digital information management system for UNHS program, East China had the highest rate of it (81.82%, 9/11). This study indicated that implementation of a UNHS program had essentially been achieved in many regions of China under the guidance of technical specifications for newborn hearing screening. Compared with 2016, the overall quality of the UNHS program had improved in 2017 and that in East China was better than in the Midland and West China. However, national quality control of the UNHS program is still required to enhance the quality of the program and public education needs to be emphasized to improve the rescreening and reception rate. [ABSTRACT FROM AUTHOR]

Genetic screening of newborns for deafness plays an important role in elucidating the etiology of deafness, diagnosing it early, and intervening in it. Genetic screening of newborns has been conducted for 11 years in Beijing. It started with a chip to screen for 9 variants of 4 genes in 2012; the chip screened for 15 variants of those genes in 2018, and it now screens for 23 variants of those genes. In the current study, a comparative analysis of three screening protocols and follow-up for infants with pathogenic variants was performed. The rates of detection and hearing test results of infants with pathogenic variants were analyzed. Subjects were 493,821 infants born at 122 maternal and child care centers in Beijing from April 2012 to August 2023. Positivity increased from 4.599% for the chip to screen for 9 variants to 4.971% for the chip to screen for 15 variants, and further to 11.489% for the chip to screen for 23 variants. The carrier frequency of the GJB2 gene increased from 2.489% for the chip to screen for 9 variants and 2.422% for the chip to screen for 15 variants to 9.055% for the chip to screen for 23 variants. The carrier frequency of the SLC26A4 gene increased from 1.621% for the chip to screen for 9 variants to 2.015% for the chip to screen for 15 variants and then to 2.151% for the chip to screen for 23 variants. According to the chip to screen for 9 variants and the chip to screen for 15 variants, the most frequent mutant allele was c.235delC. According to the chip to screen for 23 variants, the most frequent mutant allele was c.109G>A. The chip to screen for 15 variants was used to screen 66.67% (14/21) of newborns with biallelic variants in the SLC26A4 gene for newly added mutations. The chip to screen for 23 variants was used to screen 92.98% (53/57) of newborns with biallelic variants in the GJB2 gene (52 cases were biallelic c.109G>A) and 25% (1/4) of newborns with biallelic variants in the SLC26A4 gene for newly added mutations. Among the infants with pathogenic variants (biallelic variants in GJB2 or SLC26A4), 20.66% (25/121) currently have normal hearing. In addition, 34.62% (9/26) of newborns who passed the hearing screening were diagnosed with hearing loss. Findings indicate that a growing number of newborns have benefited, and especially in the early identification of potential late-onset hearing loss, as the number of screening sites has increased. Conducting long-term audiological monitoring for biallelic variants in individuals with normal hearing is of paramount significance.

Objective: To analyze the mutation spectrum of 23-site chip newborn deafness genetic screening in Beijing, and to provide basis for genetic counseling and clinical diagnosis and treatment. Methods: The study included 21 006 babies born in Beijing from December 2022 to June 2023. All subjects underwent newborn deafness genetic screening in Beijing Tongren Hospital, covering 23 variants in 4 genes, the GJB2 gene（c.35delG, c.176_191del16, c.235delC, c.299_300delAT, c.109G>A, c.257C>G, c.512insAACG, c.427C>T, c.35insG）, SLC26A4 gene（c.919-2A>G, c.2168A>G, c.1174A>T, c.1226G>A, c.1229C>T, c.1975G>C, c.2027T>A, c.589G>A, c.1707+5G>A, c.917insG, c.281C>T）, Mt12SrRNA （m.1555A>G, m.1494C>T） and GJB3 gene（c.538C>T）. The mutation detection rate and allele frequency were analyzed. Results: The overall mutation detection rate was 11.516%（2 419/21 006）, with the GJB2 gene being the most frequently involved at 9.097%（1 911/21 006）, followed by the SLC26A4 gene at 2.123%（446/21 006）, the GJB3 gene at 0.362%（76/21 006） and Mt12SrRNA at 0.176%（37/21 006）. Among the GJB2 genes, c.109G>A and c.235delC mutation detection rates were the highest, with 6.579%（1 382/21 006） and 1.795%（377/21 006）, respectively. Of the SLC26A4 genes, c.919-2A>G and c.2168A>G had the highest mutation rates of 1.423%（299/21 006） and 0.233%（49/21 106）, respectively. Regarding the allele frequency, GJB2 c.109G>A was the most common variant with an allele frequency of 3.359%（1 411/42 012）, followed by the GJB2 c.235delC at 0.897%（377/42 012） and the SLC26A4 c.919-2A>G at 0.719%（302/42 012）. Conclusion: 23-site chip newborn deafness genetic screening in Beijing showed that GJB2 c.109G>A mutation detection rate and allele frequency were the highest. This study has enriched the epidemiological data of 23-site chip genetic screening mutation profiles for neonatal deafness, which can provide evidence for clinical practice., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.)

Concurrent screening has been proven to provide a comprehensive approach for management of congenital deafness and prevention of ototoxicity. The SLC26A4 gene is associated with late-onset hearing loss and is of great clinical concern. For much earlier detection of newborns with deafness-causing mutations in the SLC26A4 gene, the Beijing Municipal Government launched a chip for optimized genetic screening of 15 variants of 4 genes causing deafness based on a chip to screen for 9 variants of 4 genes, and 6 variants of the SLC26A4 gene have now been added. To ascertain the advantage of a screening chip including 15 variants of 4 genes, the trends in concurrent hearing and genetic screening were analyzed in 2019 and 2020. Subjects were 76,460 newborns who underwent concurrent hearing and genetic screening at 24 maternal and child care centers in Beijing from January 2019 to December 2020. Hearing screening was conducted using transiently evoked otoacoustic emissions (TEOAEs), distortion product otoacoustic emissions (DPOAE), or the automated auditory brainstem response (AABR). Dried blood spots were collected for genetic testing and 15 variants of 4 genes, namely GJB2, SLC26A4, mtDNA 12S rRNA, and GJB3, were screened for using a DNA microarray platform. The initial referral rate for hearing screening decreased from 3.60% (1,502/41,690) in 2019 to 3.23% (1,124/34,770) in 2020, and the total referral rate for hearing screening dropped form 0.57% (236/41,690) in 2019 to 0.54% (187/34,770) in 2020, indicating the reduced false positive rate of newborn hearing screening and policies to prevent hearing loss conducted by the Beijing Municipal Government have had a significant effect. Positivity according to genetic screening was similar in 2019 (4.970%, 2,072/41,690) and 2020 (4.863%,1,691/34,770), and the most frequent mutant alleles were c.235 del C in the GJB2 gene, followed by c.919-2 A > G in the SLC26A4 gene, and c.299 del AT in the GJB2 gene. In this cohort study, 71.43% (5/7) of newborns with 2 variants of the SLC26A4 gene were screened for newly added mutations, and 28.57% (2/7) of newborns with 2 variants of the SLC26A4 gene passed hearing screening, suggesting that a screening chip including 15 variants of 4 genes was superior at early detection of hearing loss, and especially in early identification of newborns with deafness-causing mutations in the SLC26A4 gene. These findings have clinical significance.

Objectives: School-aged children may experience hearing loss and emotional problems. Previous studies have shown a bidirectional relationship between hearing loss and emotional problems in the elderly population, and we aimed to analyze the association between hearing thresholds and emotional problems in school-aged children., Methods: Based on the Beijing Child Growth and Health Cohort (PROC) study, the hearing screenings were conducted in November 2019 using pure tone audiometry. A total of 1,877 parents completed the Strengths and Difficulties Questionnaire (SDQ) to assess children's emotional and behavioral status. We used generalized linear regression analysis to assess the potential association of emotional problems with hearing thresholds, based on multiple imputed datasets with a sample size of 1,914., Results: The overall pass rate of hearing screening was 91.5%. The abnormal rate of SDQ total difficulties was 55.8%. Emotional symptoms were positively associated with left ear average hearing thresholds (β = 0.24, 95% CI : 0.08-0.40), and right ear average hearing thresholds (β = 0.18, 95% CI : 0.04-0.32). Conduct problems, hyperactivity/inattention, peer problems, and prosocial behaviors had no association with the pass rate of the hearing screening. Regarding emotional symptoms, boys with many fears and who are easily scared coincided with increased right ear average hearing thresholds (β = 0.67, 95% CI : 0.01-1.33). Girls having many worries, frequently feeling unhappy and downhearted were positively associated with left and right ear average hearing thresholds, respectively (β = 0.96, 95% CI : 0.20-1.73; β = 0.72, 95% CI : 0.07-1.37)., Conclusions: The co-occurrence of hearing problems and emotional problems of children aged 6-8 in Beijing attracts attention. It is important to address undiscovered hearing loss and emotional problems from the perspective of comorbidity driving factors., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Xiao, Amaerjiang, Wang, Li, Zunong, En, Zhao, Wen, Yu, Huang and Hu.)

Exposure to phthalates poses adverse health impacts to human beings. In this study, we analyzed 7 phthalates in dust samples, which were collected with vacuum cleaner from 40 to 31 residences in Beijing in summer and winter, respectively. The major phthalates (median concentration in the summer and winter, respectively) were DiBP (55 and 40 ng/mg), DnBP (99 and 30 ng/mg) and DEHP (795 and 335 ng/mg). The concentrations were significantly influenced by season and residence time of house dust. The concentrations of phthalates in dust on plastic surfaces were highest, followed by those on wooden and fabric surfaces. The dust-air partition coefficients (K d ) were calculated: the median values were 0.13, 0.02 and 5.62 m 3 /mg in the summer and 0.06, 0.018 and 0.76 m 3 /mg in the winter for DiBP, DnBP and DEHP, respectively. A comparison with K d * at equilibrium state suggested that partition between air and dust deviated from equilibrium state in both seasons. The results also revealed that dust-phthalates in the summer may completely originate from source materials via direct transfer and external physical process; while dust-phthalates in the winter may come from both air (via partition) and source material (via direct transfer and external physical process). The influence of temperature on dust-phthalate concentrations differed by season, owing to different origin of dust-phthalates in two seasons. Polar organic components in dust, which are products of reactions between O 3 and unsaturated hydrocarbons in dust, likely played an important role in fate and transport of phthalates. The presence of them resulted in the significant associations between dust-phthalate concentrations and air humidity in the summer. Moreover, the impacts of indoor PM 2.5 concentrations, traffic conditions surrounding residence, household lifestyle and number of occupants were also observed. The mechanisms behind those observations were discussed., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Objective: To analyze the current status of newborn deafness gene screening from 2016 to 2017 in multiple regions of China, and to provide a reference for further promotion and application. Method: The "newborn deafness gene screening questionnaire" was sent to 41 institutions in eastern, central and western China after expert demonstration. The survey content included status of genetic screening, screening methods, the number of screenings, and the status of positive detections from January 1st, 2016 to December 31th, 2017. Each institution returned the questionnaire, the investigator conducted data verification and quality sampling. Finally, we performed analysis of screening methods and the positive detection rate of each gene on questionnaires with complete data. Result: Forty-one questionnaires were sent out and 41 were returned, the questionnaire return rate was 100%, in which 12 questionnaires were complete. Of the 41 institutions, 15 carried newborn deafness gene screening, with a rate of 36.59%（15/41）. The highest rate was in the east（72.22%, 13/18）, and the differences among the regions were statistically significant. As for the screening methods, among 12 questionnaires with complete data, 9 variants in 4 genes and 20 variants in 4 genes accounted for the highest proportion, both with the rate of 33.33%（4/12）, followed by 15 variants in 4 genes（25%, 3/12） and 5 variants in 3 genes（8.34%, 1/12）. A total of 340, 521 neonates were included in the study, and 17, 036 were positive for screening, with a positive rate of 5.00%. Among them, the single heterozygous mutation rate of GJB2 gene was 2.43%（8269/340, 521）, the biallele mutation rate was 0.02%（56/340, 521）,the single heterozygous mutation rate of SLC26A4 gene was 1.99%（6771/340, 521）, the biallele mutation rate was 0.01%（39/340, 521）,the single heterozygous mutation rate of GJB3 gene was 0.33%（1140/340, 521）, the mitochondrial 12SrRNA gene mutation rate was 0.22%（746/340, 521） and the double-gene heterozygous mutation rate was 0.004%（15/340, 521）. Conclusion: From 2016 to 2017, the newborn deafness gene screening is more extensive in the eastern region of China than in the central and western regions. In institutions that have carried out deafness gene screening, 9 variants in 4 genes and 20 variants in 4 genes are widely used; the GJB2 gene and SLC26A4 gene mutations are the most common. The results could provide references for areas where deafness gene screening is about to be performed., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.)

In order to investigate the genetic causes of hearing loss in a Chinese proband (in Family A) with enlarged vestibular aqueduct (EVA) and to investigate the genotype of two Chinese probands with SLC26A4 singe-allelic mutation and normal hearing (in Families B and C, respectively), the three probands and their parents were clinically and genetically evaluated. Twenty exons and flanking splice sites of the SLC26A4 gene were screened for pathogenic mutations via amplification with PCR and bidirectional sequencing. As controls, a group of 400 healthy newborns from the same ethnic background underwent SLC26A4 gene screening using the same method. The three probands all harbored two mutations in the SLC26A4 gene in the form of compound heterozygosity. The genotypes of mutations in Families A, B, and C are c.1211C>A/c.919-2A>G, c.1729G>A/c.919-2A>G, and c.1286C>A/c.919-2A>G, respectively. The missense mutations c.1211C>A (p.T430Q) in exon 10 and c.1729G>A (p.V577I) in exon 16 are both reported for the first time and were absent in 400 healthy newborns. c.1211C>A has Glutamine (Gln) at amino acid 430 instead of Threonine (Thr), and c.1729G>A has Isoleucine (Ile) at amino acid 577 instead of Valine (Val). c.1286C>A, a mutation previously reported in DVD and HGMD, was associated with Mondini deformity, but a proband with the c.1286C>A mutation in this study was normal. This study has demonstrated that the novel missense mutation c.1211C>A in compound heterozygosity with c.919-2A>G in the SLC26A4 gene is likely to be the cause of deafness in Family A. A novel variant, c.1729G>A, was identified and is likely benign. The pathogenicity of the c.1286C>A mutation warrants more in-depth study. These findings will broaden the spectrum of known SLC26A4 mutations in the Chinese population, providing more information for genetic counseling and diagnosis of hearing loss with EVA.

Anastrozole is currently used as first-line treatment in locally advanced or metastatic breast cancer. A generic anastrozole tablet was developed to offer an alternative to the marketed tablet formulation. The aim of the current study was to evaluate the bioequivalence between the test and reference formulations of anastrozole in a single-dose, 2-period, 2-sequence crossover study with a 14-day washout interval. A total of 20 healthy male Chinese volunteers were enrolled and completed the study, after oral administration of a single dose of 1.0-mg test and reference formulations of anastrozole. The blood samples were collected at different times and were determined by a fully validated high-pressure liquid chromatography-tandem mass spectrometry method. The evaluated pharmacokinetic parameters, including C max , AUC 0-t , and AUC 0-∞ , were assessed for bioequivalence based on current guidelines. The observed pharmacokinetic parameters of anastrozole of the test drug were similar to those of the reference formulation. The 90% confidence intervals of test/reference ratios for C max , AUC 0-t , and AUC 0-∞ were within the bioequivalence acceptance range of 80%-125%. The results obtained from these healthy Chinese subjects in this study suggest that the test formulation of anastrozole 1.0-mg tablet is bioequivalent to the reference formulation (Arimidex 1.0-mg tablet)., (© 2018, The American College of Clinical Pharmacology.)

In order to investigate the genetic causes of hearing loss in a Chinese proband with nonsyndromic hearing loss and enlarged vestibular aqueduct (EVA), we conducted clinical and genetic evaluations in a deaf proband and her parents with normal hearing. 20 exons and flanking splice sites of the SLC26A4 gene were screened for pathogenic mutations by PCR amplification and bidirectional sequencing. As a control, a group of 400 healthy newborns from the same ethnic background were subjected to SLC26A4 gene screening using the same method. The proband harbored two mutations in the SLC26A4 gene in the form of compound heterozygosity. She was found to be heterozygous for a novel mutation c.574delC (p.Leu192Ter) in exon 5 and for the known mutation c.919-2A>G(c.IVS7-2A>G). Her mother was a heterozygous carrier of the c.919-2A>G mutation, and her father was a heterozygous carrier of the c.574delC and therefore co-segregated with the genetic disease. The c.574delC mutation was absent in 400 healthy newborns. The frameshift mutation causes the leucine (Leu) at amino acid position 192 to become a termination codon, leading to termination of protein sequence coding. This study demonstrates that the novel frameshift mutation c.574delC (p.Leu192Ter) in compound heterozygosity with c.919-2A>G in the SLC26A4 gene is the main cause of deafness in a family. Our study will expand the spectrum of known SLC26A4 mutations in the Chinese population, providing more information on genetic counseling, and diagnosis in hearing loss with EVA.

The p.V37I (c.109G>A) mutation in the GJB2 gene is the common frequent cause of congenital deafness; however, its pathogenicity is debated. The present study investigated the prevalence of p.V37I in Chinese infants and young children and associated clinical characteristics. The subjects of the present study were screened for mutations in GJB2 (235delC, 299delAT, 176dell6, 35delG), SLC26A4 (IVS7-2A>G, 2168A>G), GJB3 (538C>T), and in the mitochondrial 12S rRNA gene (1555A>G, 1494C>T). Subjects with p.V37I underwent an audiological evaluation. GJB2 exon sequencing revealed that 20 subjects had p.V37I compound heterozygous mutations, one of whom had a family history; the mutations included c.235delC/p.V37I (n = 12), c.299AT/p.V37I (n = 7), and c.176del16/p.V37I (n = 1). Of the 20 subjects, 12 were referred for Universal Newborn Hearing Screening (UNHS). Nine of the 20 subjects had mild hearing loss in the better ear and 5 had moderate hearing loss in the better ear while 4 had normal hearing. Among subjects with the c.235delC/p.V37I mutation, 5 had mild hearing loss and 2 had moderate hearing loss while 3 had normal hearing. Among subjects with the c.299AT/p.V37I mutation, 3 had mld hearing loss and 3 had moderate hearing loss while 1 had normal hearing. One subject with the c.176del16/p.V37I mutation had mild hearing loss. Few studies have reported on the clinical characteristics of Chinese infants with p.V37I compound heterozygous mutations identified via screening for deafness genes and GJB2 sequencing. The c.235delC/p.V37I mutation was the most prevalent mutation found in subjects. The degree of hearing loss associated with p.V37I compound heterozygous mutations was mainly mild to moderate.

Objective: To analyze the characteristics of spontaneous otoacoustic emissions (SOAEs) in full-term newborns., Methods: A total of 236 ears from 147 randomly selected full-term Chinese neonates (82 females and 65 males), who had passed the initial newborn hearing screening, were assessed for SOAEs using the Capella OAE equipment (Madsen, Denmark). The test was performed in a sound booth., Results: (1) The overall prevalence of SOAE was 56.77% of the ears. The prevalence of SOAEs was significantly higher in females (69.23%) than in males (41.51%, p<0.01), as well as in the right ears (64.17%) than in the left ears (49.14%, p<0.05). (2) The overall mean level of SOAE was 11.78±8.36dB SPL, with no significant differences between males (11.73±8.25dB SPL) and females (11.81±8.43dB SPL) or between the left (11.97±8.56dB SPL) and the right ears (11.65±8.22dB SPL). (3) The 25th and 75th percentiles of SOAE frequencies were 2.31 and 4.36kHz in females and 1.93 and 3.94kHz in males, which were statistically significantly different (p<0.01). In contrast, the SOAE frequency was not significantly different between ears (2.22-4.18kHz in the left ears and 2.17-4.14kHz in right ears). (4) The overall mean number of SOAEs was 3.70±2.75, with no significant differences in females (3.62±2.70) and males (3.86±2.87) or in right (3.70±2.55) and left ears (3.70±3.02)., Conclusions: The prevalence rate of SOAE is significantly higher in females than in males and in the right ears than in the left ears in Chinese newborns. The frequencies of the SOAEs in newborns appeared to be higher than those reported in normal-hearing adults in the literature., (Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.)

Objective: To assess health risks associated with inhalation exposure to formaldehyde and benzene mainly emitted from building and decoration materials in newly remodeled indoor spaces in Beijing., Methods: We tested the formaldehyde and benzene concentrations in indoor air of 410 dwellings and 451 offices remodeled within the past year, in which the occupants had health concerns about indoor air quality. To assess non-carcinogenic health risks, we compared the data to the health guidelines in China and USA, respectively. To assess carcinogenic health risks, we first modeled indoor personal exposure to formaldehyde and benzene using the concentration data, and then estimated the associated cancer risks by multiplying the indoor personal exposure by the Inhalation Unit Risk values (IURs) provided by the U.S. EPA Integrated Risk Information System (U.S. EPA IRIS) and the California Office of Environmental Health Hazard Assessment (OEHHA), respectively., Results: (1) The indoor formaldehyde concentrations of 85% dwellings and 67% offices were above the acute Reference Exposure Level (REL) recommended by the OEHHA and the concentrations of all tested buildings were above the chronic REL recommended by the OEHHA; (2) The indoor benzene concentrations of 12% dwellings and 32% offices exceeded the reference concentration (RfC) recommended by the U.S. EPA IRIS; (3) The median cancer risks from indoor exposure to formaldehyde and benzene were 1,150 and 106 per million (based on U.S. EPA IRIS IURs), 531 and 394 per million (based on OEHHA IURs)., Conclusions: In the tested buildings, formaldehyde exposure may pose acute and chronic non-carcinogenic health risks to the occupants, whereas benzene exposure may pose chronic non-carcinogenic risks to the occupants. Exposure to both compounds is associated with significant carcinogenic risks. Improvement in ventilation, establishment of volatile organic compounds (VOCs) emission labeling systems for decorating and refurbishing materials are recommended to reduce indoor VOCs exposure.

Background: Although migrant workers account for the majority of newborns in Beijing, their children are less likely to undergo appropriate universal newborn hearing screening/rescreening (UNHS) than newborns of local non-migrant residents. We hypothesised that this was at least in part due to the inadequacy of the UNHS protocol currently employed for newborn babies, and therefore aimed to modify the protocol to specifically reflect the needs of the migrant population., Methods: A total of 10,983 healthy babies born to migrant mothers between January 2007 and December 2009 at a Beijing public hospital were investigated for hearing abnormalities according to a modified UNHS protocol. This incorporated two additional/optional otoacoustic emissions (OAE) tests at 24-48 hours and 2 months after birth. Infants not passing a screening test were referred to the next test, until any hearing loss was confirmed by the auditory brainstem response (ABR) test., Results: A total of 98.91% (10983/11104) of all newborn children underwent the initial OAE test, of which 27.22% (2990/10983) failed the test. 1712 of the failed babies underwent the second inpatient OAE test, with739 failing again; thus significantly decreasing the overall positive rate for abnormal hearing from 27.22% to 18.36% ([2990-973 /10983)]; p = 0). Overall, 1147(56.87%) babies underwent the outpatient OAE test again after1-month, of whom 228 failed and were referred for the second outpatient OAE test (i.e. 2.08% (228/10983) referral rate at 1month of age). 141 of these infants underwent the referral test, of whom 103 (73.05%) tested positive again and were referred for a final ABR test for hearing loss (i.e. final referral rate of 1.73% ([228-38/10983] at 2 months of age). Only 54 infants attended the ABR test and 35 (0.32% of the original cohort tested) were diagnosed with abnormal hearing., Conclusions: Our study shows that it is feasible and practical to achieve high coverage rates for screening hearing loss and decrease the referral rates in newborn babies of migrant workers, using a modification of the currently employed UNHS protocol.

Background: In 2009, the Chinese Ministry of Health recommended scale-up of routine neonatal hearing screening - previously performed primarily only in select urban hospitals - throughout the entire country., Methods: A decision analytical model for a simulated population of all live births in china was developed to compare the costs and health effects of five mutually exclusive interventions: 1) universal screening using Otoacoustic Emission (OAE) and Automated Auditory Brainstem Response (AABR); 2) universal OAE; 3) targeted OAE and AABR; 4) targeted OAE; and 5) no screening. Disability-Adjusted Life Years (DALYs) were calculated for health effects., Results and Discussion: Based on the cost-effectiveness and potential health outcomes, the optimal path for scale-up would be to start with targeted OAE and then expand to universal OAE and universal OAE plus AABR. Accessibility of screening, diagnosis, and intervention services significantly affect decision of the options., Conclusion: In conclusion, to achieve cost-effectiveness and best health outcomes of the NHS program, the accessibility of screening, diagnosis, and intervention services should be expanded to reach a larger population. The results are thus expected to be of particular benefit in terms of the 'rolling out' of the national plan.

Objective: To investigate the feasibility of universal newborn hearing screening in countryside in order to provide reliable evidence in launching this program all over the countryside of China., Method: Subjects were 12,638 infants who were born in 9 counties from Jan 2004 to Dec 2005. TEOAE was used for the fast hearing screening. Infants were screened on the 2-7 days after the birth. The re-screening was conducted in 4-6 weeks if failed in the initial screening, and follow-up were provided continually if they also failed in the re-screening., Result: Ten thousand eight hundred and forty-five of 12,638 (85.8%) were screened including 9,963 (91.9%) normal newborns and 882 (8.1%) newborns with high-risk. Seven thousand four hundred and fifty (68.7%) newborns passed the initial screening, and 3,395 (31.3%) people failed. One thousand seven hundred and ninety-three (14.2%) infants were refused to be screened. Only 2,536 (74.7%) were re-screened on time, and 859 (25.3%) did not receive re-screening. One hundred and twenty were failed in the re-screening or first screening, and 79 (65.8%) of them received diagnostic assessment. Among the infants received diagnostic assessment, 6 (7.6%) cases were found to have profound hearing loss in both ears, 9 (11.4%) cases were found to be severe hearing loss (7 in both ears and 2 in single ear), 11 (13.9%) cases were found to be moderate hearing loss (5 in both ear and 6 in single ear), 26 (32.9%) were found to have slight hearing loss (11 in both ear and 15 in single ears), and 27 (34.2%) were normal. Fifty-two infants were diagnosed as hearing loss with a prevalence of congenital hearing loss (in binaural and monaural) of 0.5% (52/10845) and a prevalence of bilateral hearing loss of 0.3% (29/10845). A prevalence of congenital hearing loss was 0.2% (22/9,963) in well infants and 3.4% (30/882) in high risk infants. Among the 13 cases of children with severe and profound hearing loss in both ears children, 8 (61.5%) cases were fitted with hearing aids and 1 (7.7%) case was implanted with cochlear implants., Conclusion: It is necessary and feasible to conduct hearing screening program in the rural area. However, the suitable model to perform the program in the countryside needs to be set up as soon as possible in order to get more poor infants to participate into the hearing screening program for free and increase the screening rate.

Event-related brain potentials (ERPs) were measured when 24 Chinese subjects performed the earthquake color-matching Stroop task. All of them have experienced the great Sichuan earthquake (5.12), with 12 subjects in each of Chengdu city and Chongqing city (different earthquake experiences) groups. The behavioral data showed that the earthquake Stroop task yielded robust the earthquake interference effect as indexed by longer RT for earthquake-related (Related) words than earthquake-unrelated (Unrelated) words only in the Chengdu group. Scalp ERP analysis also revealed the neurophysiological substrate of the interference effect: a greater positivity (P350-450) in Related words as compared to Unrelated words was found between 350 and 450 ms post-stimulus over fronto-central scalp regions in the Chengdu group, while the interference effect was not found in the Chongqing group. The P350-450 might reflect an earthquake experience interference, but also attention enhancing, effect of earthquake-related words. Dipole source analysis of the difference wave (Related-Unrelated) showed that a generator was localized in the parahippocampal gyrus, which was possibly associated with flashbulb memory (personal earthquake experience). The results indicated that different personal earthquake experiences might be critical in engaging the neural mechanisms that underlie the modulation of selective attention.