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Sample records for digenic nonsyndromic hearing

  1. Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: assessment of GJB4, GJA1, and GJC3.

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    Kooshavar, Daniz; Tabatabaiefar, Mohammad Amin; Farrokhi, Effat; Abolhasani, Marziye; Noori-Daloii, Mohammad-Reza; Hashemzadeh-Chaleshtori, Morteza

    2013-02-01

    Autosomal recessive non-syndromic hearing loss (ARNSHL) can be caused by many genes. However, mutations in the GJB2 gene, which encodes the gap-junction (GJ) protein connexin (Cx) 26, constitute a considerable proportion differing among population. Between 10 and 42 percent of patients with recessive GJB2 mutations carry only one mutant allele. Mutations in GJB4, GJA1, and GJC3 encoding Cx30.3, Cx43, and Cx29, respectively, can lead to HL. Combination of different connexins in heteromeric and heterotypic GJ assemblies is possible. This study aims to determine whether variations in any of the genes GJB4, GJA1 or GJC3 can be the second mutant allele causing the disease in the digenic mode of inheritance in the studied GJB2 heterozygous cases. We examined 34 unrelated GJB2 heterozygous ARNSHL subjects from different geographic and ethnic areas in Iran, using polymerase chain reaction (PCR) followed by direct DNA sequencing to identify any sequence variations in these genes. Restriction fragment length polymorphism (RFLP) assays were performed on 400 normal hearing individuals. Sequence analysis of GJB4 showed five heterozygous variations including c.451C>A, c.219C>T, c.507C>G, c.155_158delTCTG and c.542C>T, with only the latter variation not being detected in any of control samples. There were three heterozygous variations including c.758C>T, c.717G>A and c.3*dupA in GJA1 in four cases. We found no variations in GJC3 gene sequence. Our data suggest that GJB4 c.542C>T variant and less likely some variations of GJB4 and GJA1, but not possibly GJC3, can be assigned to ARNSHL in GJB2 heterozygous mutation carriers providing clues of the digenic pattern. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  2. Genetics Home Reference: nonsyndromic hearing loss

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    ... Centre for Genetics Education (Australia) Disease InfoSearch: Deafness Harvard Medical School Center for Hereditary Deafness Hereditary Hearing ... Available from http://www.ncbi.nlm.nih.gov/books/NBK1434/ Citation on ... Bulletins Genetics Home Reference Celebrates Its 15th Anniversary ...

  3. Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family.

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    Niepokój, Katarzyna; Rygiel, Agnieszka M; Jurczak, Piotr; Kujko, Aleksandra A; Śniegórska, Dominika; Sawicka, Justyna; Grabarczyk, Alicja; Bal, Jerzy; Wertheim-Tysarowska, Katarzyna

    2018-02-01

    Usher syndrome is rare genetic disorder impairing two human senses, hearing and vision, with the characteristic late onset of vision loss. This syndrome is divided into three types. In all cases, the vision loss is postlingual, while loss of hearing is usually prelingual. The vestibular functions may also be disturbed in Usher type 1 and sometimes in type 3. Vestibular areflexia is helpful in making a proper diagnosis of the syndrome, but, often, the syndrome is misdiagnosed as a nonsyndromic hearing loss. Here, we present a Polish family with hearing loss, which was clinically classified as nonsyndromic. After excluding mutations in the DFNB1 locus, we implemented the next-generation sequencing method and revealed that hearing loss was syndromic and mutations in the USH2A gene indicate Usher syndrome. This research highlights the importance of molecular analysis in establishing a clinical diagnosis of congenital hearing loss.

  4. Nonsyndromic Hearing Loss Caused by USH1G Mutations: Widening the USH1G Disease Spectrum

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    Oonk, A.M.M.; Huet, R.A.C. van; Leijendeckers, J.M.; Oostrik, J.; Venselaar, H.; WIjk, E. van; Beynon, A.J.; Kunst, H.P.M.; Hoyng, C.B.; Kremer, H.; Schraders, M.; Pennings, R.J.E.

    2015-01-01

    OBJECTIVE: Currently, six genes are known to be associated with Usher syndrome type I, and mutations in most of these genes can also cause nonsyndromic hearing loss. The one exception is USH1G, which is currently only known to be involved in Usher syndrome type I and atypical Usher syndrome. DESIGN:

  5. Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.

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    DeMille, Desiree; Carlston, Colleen M; Tam, Oliver H; Palumbos, Janice C; Stalker, Heather J; Mao, Rong; Zori, Roberto T; Viskochil, David H; Park, Albert H; Carey, John C

    2018-04-01

    Connexin 26 (Cx26), encoded by the GJB2 gene, is a key protein involved in the formation of gap junctions in epithelial organs including the inner ear and palmoplantar epidermis. Pathogenic variants in GJB2 are responsible for approximately 50% of inherited sensorineural deafness. The majority of these variants are associated with autosomal recessive inheritance; however, rare reports of dominantly co-segregating variants have been published. Since we began offering GJB2 testing in 2003, only about 2% of detected GJB2 variants from our laboratory have been classified as dominant. Here we report three novel dominant GJB2 variants (p.Thr55Ala, p.Gln57_Pro58delinsHisSer, and p.Trp44Gly); two associated with syndromic sensorineural hearing loss and one with nonsyndromic hearing loss. In the kindred with the p.Thr55Ala variant, the proband and his father present with only leukonychia as a cutaneous finding of their syndromic hearing loss. This phenotype has been previously documented in conjunction with palmoplantar hyperkeratosis, but isolated leukonychia is a novel finding likely associated with the unique threonine to alanine change at codon 55 (other variants at this codon have been reported in cases of nonsyndromic hearing loss). This report contributes to the short list of GJB2 variants associated with autosomal dominant hearing loss, highlights the variability of skin and nail findings associated with such cases, and illustrates the occurrence of both syndromic and nonsyndromic presentations with changes in the same gene. © 2018 Wiley Periodicals, Inc.

  6. Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

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    Kang Dongyang

    2009-09-01

    Full Text Available Abstract Background Every year, 30,000 babies are born with congenital hearing impairment in China. The molecular etiology of hearing impairment in the Chinese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we performed a comprehensive investigation of the molecular etiology of nonsyndromic deafness in two typical areas from northern and southern China. Methods A total of 284 unrelated school children with hearing loss who attended special education schools in China were enrolled in this study, 134 from Chifeng City in Inner Mongolia and the remaining 150 from Nangtong City in JiangSu Province. Screening was performed for GJB2, GJB3, GJB6, SLC26A4, 12S rRNA, and tRNAser(UCN genes in this population. All patients with SLC26A4 mutations or variants were subjected to high-resolution temporal bone CT scan to verify the enlarged vestibular aqueduct. Results Mutations in the GJB2 gene accounted for 18.31% of the patients with nonsyndromic hearing loss, 1555A>G mutation in mitochondrial DNA accounted for 1.76%, and SLC26A4 mutations accounted for 13.73%. Almost 50% of the patients with nonsyndromic hearing loss in these typical Chinese areas carried GJB2 or SLC26A4 mutations. No significant differences in mutation spectrum or prevalence of GJB2 and SLC26A4 were found between the two areas. Conclusion In this Chinese population, 54.93% of cases with hearing loss were related to genetic factors. The GJB2 gene accounted for the etiology in about 18.31% of the patients with hearing loss, SLC26A4 accounted for about 13.73%, and mtDNA 1555A>G mutation accounted for 1.76%. Mutations in GJB3, GJB6, and mtDNA tRNAser(UCN were not common in this Chinese cohort. Conventionally, screening is performed for GJB2, SLC26A4, and mitochondrial 12S rRNA in the Chinese deaf population.

  7. Localization of A Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus (DFNB38) to 6q26–q27 in a Consanguineous Kindred from Pakistan

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    Ansar, Muhammad; Ramzan, Mohammad; Pham, Thanh L.; Yan, Kai; Jamal, Syed Muhammad; Haque, Sayedul; Ahmad, Wasim; Leal, Suzanne M.

    2003-01-01

    For autosomal recessive nonsyndromic hearing impairment over 30 loci have been mapped and 19 genes have been identified. DFNB38, a novel locus for autosomal recessive nonsyndromic hearing impairment, was localized in a consanguineous Pakistani kindred to 6q26–q27. The affected family members present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 6q26–q27 (Multipoint lod...

  8. Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting

    DEFF Research Database (Denmark)

    Chen, Neng; Tranebjærg, Lisbeth; Rendtorff, Nanna Dahl

    2011-01-01

    Pendred syndrome and DFNB4 (autosomal recessive nonsyndromic congenital deafness, locus 4) are associated with autosomal recessive congenital sensorineural hearing loss and mutations in the SLC26A4 gene. Extensive allelic heterogeneity, however, necessitates analysis of all exons and splice sites...

  9. Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

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    Amina Bakhchane

    Full Text Available The MYO7A gene encodes a protein belonging to the unconventional myosin super family. Mutations within MYO7A can lead to either non syndromic hearing loss or to the Usher syndrome type 1B (USH1B. Here, we report the results of genetic analyses performed on Moroccan families with autosomal recessive non syndromic hearing loss that identified two families with compound heterozygous MYO7A mutations. Five mutations (c.6025delG, c.6229T>A, c.3500T>A, c.5617C>T and c.4487C>A were identified in these families, the latter presenting two differently affected branches. Multiple bioinformatics programs and molecular modelling predicted the pathogenic effect of these mutations. In conclusion, the absence of vestibular and retinal symptom in the affected patients suggests that these families have the isolated non-syndromic hearing loss DFNB2 (nonsyndromic autosomal recessive hearing loss presentation, instead of USH1B.

  10. A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2

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    Lalwani, A.K.; Brister, J.R.; Fex, J.; Grundfast, K.M.; Pikus, A.T.; Ploplis, B.; San Agustin, T.; Skarka, H.; Wilcox, E.R. [National Institutes of Health, Bethesda, MD (United States)

    1994-10-01

    X-linked deafness is a rare cause of hereditary hearing impairment. We have identified a family with X-linked dominant sensorineural hearing impairment, characterized by incomplete penetrance and variable expressivity in carrier females, that is linked to the Xp21.2, which contains the Duchenne muscular dystrophy (DMD) locus. The auditory impairment in affected males was congenital, bilateral, profound, sensorineural, affecting all frequencies, and without evidence of radiographic abnormality of the temporal bone. Adult carrier females manifested bilateral, mild-to-moderate high-frequency sensorineural hearing impairment of delayed onset during adulthood. Eighteen commercially available polymorphic markers from the X chromosome, generating a 10-15-cM map, were initially used for identification of a candidate region. DXS997, located within the DMD gene, generated a two-point LOD score of 2.91 at {theta} = 0, with every carrier mother heterozygous at this locus. Recombination events at DXS992 (located within the DMD locus, 3{prime} to exon 50 of the dystrophin gene) and at DXS1068 (5{prime} to the brain promoter of the dystrophin gene) were observed. No recombination events were noted with the following markers within the DMD locus: 5{prime}DYS II, intron 44, DXS997, and intron 50. There was no clinical evidence of Duchenne or Becker muscular dystrophy in any family member. It is likely that this family represents a new locus on the X chromosome, which when mutated results in nonsyndromic sensorineural hearing loss and is distinct from the heterogeneous group of X-linked hearing losses that have been previously described. 57 refs., 6 figs., 1 tab.

  11. Finding new genes for non-syndromic hearing loss through an in silico prioritization study.

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    Matteo Accetturo

    Full Text Available At present, 51 genes are already known to be responsible for Non-Syndromic hereditary Hearing Loss (NSHL, but the knowledge of 121 NSHL-linked chromosomal regions brings to the hypothesis that a number of disease genes have still to be uncovered. To help scientists to find new NSHL genes, we built a gene-scoring system, integrating Gene Ontology, NCBI Gene and Map Viewer databases, which prioritizes the candidate genes according to their probability to cause NSHL. We defined a set of candidates and measured their functional similarity with respect to the disease gene set, computing a score ( S S M avg that relies on the assumption that functionally related genes might contribute to the same (disease phenotype. A Kolmogorov-Smirnov test, comparing the pair-wise distribution on the disease gene set with the distribution on the remaining human genes, provided a statistical assessment of this assumption. We found at a p-value 0.99. The twenty top-scored genes were finally examined to evaluate their possible involvement in NSHL. We found that half of them are known to be expressed in human inner ear or cochlea and are mainly involved in remodeling and organization of actin formation and maintenance of the cilia and the endocochlear potential. These findings strongly indicate that our metric was able to suggest excellent NSHL candidates to be screened in patients and controls for causative mutations.

  12. Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss.

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    Tlili, Abdelaziz; Al Mutery, Abdullah; Kamal Eddine Ahmad Mohamed, Walaa; Mahfood, Mona; Hadj Kacem, Hassen

    2017-11-01

    Mutations in the gap junction protein beta 2 (GJB2) gene are responsible for more cases of nonsyndromic recessive hearing loss than any other gene. The purpose of our study was to evaluate the prevalence of GJB2 mutations among affected individuals from United Arab Emirates (UAE). There were 50 individuals diagnosed with hereditary hearing loss and 120 healthy individuals enrolled in the study. The Sanger sequencing method was used to screen the GJB2 coding region in all affected individuals. The c.-1G>A variant was determined by the polymerase chain reaction-restriction fragment length polymorphism method in normal individuals. Nine cases with bi-allelic mutations and three cases with mono-allelic mutations were detected in 12 out of 50 patients (24%). The homozygous mutation c.35delG was identified as the cause of hearing loss in six participants (12%). The mutation c.506G>A was identified in three affected individuals (6%). The allelic frequency (14%) and low percentage of individuals that were homozygous (2%) for the c.35delG mutation suggest that there are other genes responsible for nonsyndromic deafness in the UAE population. The results reported here are a preliminary step in collecting epidemiological data regarding autosomal recessive nonsyndromic hearing loss related to GJB2 gene mutations among the UAE population. The c.35delG mutation of the GJB2 gene is the most frequently seen causative mutation in the UAE and is followed by the p.Cys169Tyr mutation.

  13. [Application of MALDI-TOF-MS in gene testing for non-syndromic hearing loss].

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    Zeng, Yun; Jiang, Dan; Feng, Da-fei; Jin, Dong-dong; Wu, Xiao-hui; Ding, Yan-li; Zou, Jing

    2013-12-01

    To investigate the feasibility of Matrix-Assisted Laser Desorption-Ionization Time of Flight Mass Spectrometry (MALDI-TOF-MS) , according to the genetic test of non-syndromic hearing loss (NSHL), and check using the direct sequencing. Peripheral blood was collected from 454 NSHL patients. DNA samples were extracted and 20 loci of the four common disease-causing genes were analysed by MALDI-TOF-MS, including GJB2 (35delG, 167delT, 176_191del16, 235delC, 299_300delAT ), GJB3 (538C→T, 547G→A), SLC26A4 (281C→T, 589G→A, IVS7-2A→G, 1174A→T, 1226G→A, 1229C→T, IVS15+5G→A, 1975G→C, 2027T→A, 2162C→T, 2168A→G), and mitochondrial 12S rRNA (1494C→T, 1555A→G). Direct sequencing was also used to analyse the aforementioned 20 loci in order to validate the accuracy of MALDI-TOF-MS. Among the 454 patients, 166 cases (36.56%) of disease-causing mutations were detected, which included 69 cases (21.15%) of GJB2 gene mutation, four cases (0.88%) of GJB3 gene mutation, 64 cases (14.10%) of SLC26A4 gene mutation, and three cases (0.66%) of mitochondrial 12S rRNA gene mutation. Moreover, the results obtained from direct sequencing and MALDI-TOF-MS were consistent, and the results showed that the two methods were consistent. The MALDI-TOF-MS detection method was designed based on the hearing loss-related mutation hotspots seen in the Chinese population, and it has a high detection rate for NSHL related mutations. In comparison to the conventional detection methods, MALDI-TOF-MS has the following advantages: more detection sites, greater coverage, accurate, high throughput and low cost. Therefore, this method is capable of satisfying the needs of clinical detection for hearing impairment and it is suitable for large-scale implementation.

  14. Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss

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    Ana Paula Grillo

    2015-01-01

    Full Text Available Single nucleotide polymorphisms (SNPs are important markers in many studies that link DNA sequence variations to phenotypic changes; such studies are expected to advance the understanding of human physiology and elucidate the molecular basis of diseases. The DFNB1 locus, which contains the GJB2 and GJB6 genes, plays a key role in nonsyndromic hearing loss. Previous studies have identified important mutations in this locus, but the contribution of SNPs in the genes has not yet been much investigated. The aim of this study was to investigate the association of nine polymorphisms located within the DFNB1 locus with the occurrence of autosomal recessive nonsyndromic hearing loss (ARNSHL. The SNPs rs3751385 (C/T, rs7994748 (C/T, rs7329857 (C/T, rs7987302 (G/A, rs7322538 (G/A, rs9315400 (C/T, rs877098 (C/T, rs945369 (A/C, and rs7333214 (T/G were genotyped in 122 deaf patients and 132 healthy controls using allele-specific PCR. There were statistically significant differences between patients and controls, in terms of allelic frequencies in the SNPs rs3751385, rs7994748, rs7329857, rs7987302, rs945369, and rs7333214 (P<0.05. No significant differences between the two groups were observed for rs7322538, rs9315400, and rs877098. Our results suggest that SNPs present in the GJB2 and GJB6 genes may have an influence on ARNSHL in humans.

  15. The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.

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    Brownstein, Zippora; Ben-Yosef, Tamar; Dagan, Orit; Frydman, Moshe; Abeliovich, Dvorah; Sagi, Michal; Abraham, Fabian A; Taitelbaum-Swead, Riki; Shohat, Mordechai; Hildesheimer, Minka; Friedman, Thomas B; Avraham, Karen B

    2004-06-01

    Usher syndrome is a frequent cause of the combination of deafness and blindness due to retinitis pigmentosa (RP). Five genes are known to underlie different forms of Usher syndrome type I (USH1). In the Ashkenazi Jewish population, the R245X mutation of the PCDH15 gene may be the most common cause of USH1 (Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RK, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB N Engl J Med 348: 1664-1670, 2003). To estimate what percentage of Ashkenazi Jewish children born with profound hearing loss will develop RP due to R245X, we examined the prevalence of the R245X PCDH15 mutation and its carrier rate among Ashkenazi Jews in Israel. Among probands diagnosed with nonsyndromic hearing loss not due to mutations of connexin 26 (GJB2) and/or connexin 30 (GJB6), and below the age of 10, 2 of 20 (10%) were homozygous for the R245X mutation. Among older nonsyndromic deaf individuals, no homozygotes were detected, although one individual was heterozygous for R245X. The carrier rate of the R245X mutation among the normal hearing Ashkenazi population in Israel was estimated at 1%. Ashkenazi Jewish children with profound prelingual hearing loss should be evaluated for the R245X PCDH15 mutation and undergo ophthalmologic evaluation to determine whether they will develop RP. Rehabilitation can then begin before loss of vision. Early use of cochlear implants in such cases may rescue these individuals from a dual neurosensory deficit.

  16. Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

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    Sobia Shafique

    Full Text Available The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafness. In the present study a cohort of 30 ARNSHL families was initially screened for mutations in GJB2 and MYO15A. Homozygosity mapping was performed by employing whole genome single nucleotide polymorphism (SNP genotyping in the families that did not carry mutations in GJB2 or MYO15A. Mutation analysis was performed for the known ARNSHL genes present in the homozygous regions to determine the causative mutations. This allowed the identification of a causative mutation in all the 30 families including 9 novel mutations, which were identified in 9 different families (GJB2 (c.598G>A, p.Gly200Arg; MYO15A (c.9948G>A, p.Gln3316Gln; c.3866+1G>A; c.8767C>T, p.Arg2923* and c.8222T>C, p.Phe2741Ser, TMC1 (c.362+18A>G, BSND (c.97G>C, p.Val33Leu, TMPRSS3 (c.726C>G, p.Cys242Trp and MSRB3 (c.20T>G, p.Leu7Arg. Furthermore, 12 recurrent mutations were detected in 21 other families. The 21 identified mutations included 10 (48% missense changes, 4 (19% nonsense mutations, 3 (14% intronic mutations, 2 (9% splice site mutations and 2 (9% frameshift mutations. GJB2 accounted for 53% of the families, while mutations in MYO15A were the second most frequent (13% cause of ARNSHL in these 30 families. The identification of novel as well as recurrent mutations in the present study increases the spectrum of mutations in known deafness genes which could lead to the identification of novel founder mutations and population specific mutated deafness genes causative of ARNSHL. These results provide detailed genetic information that has potential diagnostic implication in the establishment of cost-efficient allele-specific analysis of frequently occurring variants in combination with other reported mutations in Pakistani populations.

  17. Localization of A Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus (DFNB38) to 6q26–q27 in a Consanguineous Kindred from Pakistan

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    Ansar, Muhammad; Ramzan, Mohammad; Pham, Thanh L.; Yan, Kai; Jamal, Syed Muhammad; Haque, Sayedul; Ahmad, Wasim; Leal, Suzanne M.

    2010-01-01

    For autosomal recessive nonsyndromic hearing impairment over 30 loci have been mapped and 19 genes have been identified. DFNB38, a novel locus for autosomal recessive nonsyndromic hearing impairment, was localized in a consanguineous Pakistani kindred to 6q26–q27. The affected family members present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 6q26–q27 (Multipoint lod score 3.6). The genetic region for DFNB38 spans 10.1 cM according to the Marshfield genetic map and is bounded by markers D6S980 and D6S1719. This genetic region corresponds to 3.4 MB on the sequence-based physical map. PMID:12890929

  18. A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

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    Nyegaard, Mette; Rendtorff, Nanna D; Nielsen, Morten S

    2015-01-01

    Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP......-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on chromosome 6q15-21 (LOD 5.1) in a large Danish family with dominantly inherited NSHI. By locus specific capture and next-generation sequencing, we identified a c.574C>T heterozygous nonsense mutation (p.R192......-genome and exome sequence data. The predicted effect of the mutation was a truncation of the last six C-terminal residues of the cytoplasmic tail of CD164, including a highly conserved canonical sorting motif (YXX phi). In whole blood from an affected individual, we found by RT-PCR both the wild...

  19. AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.

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    Guan, Qiaoning; Balciuniene, Jorune; Cao, Kajia; Fan, Zhiqian; Biswas, Sawona; Wilkens, Alisha; Gallo, Daniel J; Bedoukian, Emma; Tarpinian, Jennifer; Jayaraman, Pushkala; Sarmady, Mahdi; Dulik, Matthew; Santani, Avni; Spinner, Nancy; Abou Tayoun, Ahmad N; Krantz, Ian D; Conlin, Laura K; Luo, Minjie

    2018-03-29

    PurposeHereditary hearing loss is highly heterogeneous. To keep up with rapidly emerging disease-causing genes, we developed the AUDIOME test for nonsyndromic hearing loss (NSHL) using an exome sequencing (ES) platform and targeted analysis for the curated genes.MethodsA tiered strategy was implemented for this test. Tier 1 includes combined Sanger and targeted deletion analyses of the two most common NSHL genes and two mitochondrial genes. Nondiagnostic tier 1 cases are subjected to ES and array followed by targeted analysis of the remaining AUDIOME genes.ResultsES resulted in good coverage of the selected genes with 98.24% of targeted bases at >15 ×. A fill-in strategy was developed for the poorly covered regions, which generally fell within GC-rich or highly homologous regions. Prospective testing of 33 patients with NSHL revealed a diagnosis in 11 (33%) and a possible diagnosis in 8 cases (24.2%). Among those, 10 individuals had variants in tier 1 genes. The ES data in the remaining nondiagnostic cases are readily available for further analysis.ConclusionThe tiered and ES-based test provides an efficient and cost-effective diagnostic strategy for NSHL, with the potential to reflex to full exome to identify causal changes outside of the AUDIOME test.Genetics in Medicine advance online publication, 29 March 2018; doi:10.1038/gim.2018.48.

  20. [Research progress of mutational spectrum and pathophysiology of WFS1 gene in Wolfram syndrome and nonsyndromic low frequency sensorineural hearing loss].

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    Shi, S M; Han, Y H; Wang, H B

    2016-09-07

    Compound homozygous or heterozygous mutations in WFS 1 can lead to autosomal recessive Wolfram syndrome (WS), and heterozygous mutations in WFS 1 can lead to autosomal dominant non-syndromic low frequency sensorineural hearing loss (LFSNHL). In addition, mutations in the WFS region has relationship with diabetes and psychiatric diseases. In this paper, we provide an overview of genetic research with different phenotypes, including WS and LFSNHL.

  1. [Connexin gene 26 (GJB2) mutations in patients with hereditary non-syndromic sensorineural loss of hearing in the Republic of Sakha (Yakutia)].

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    Barashkov, N A; Dzhemileva, L U; Fedorova, S A; Maksimova, N R; Khusnutdinova, E K

    2008-01-01

    The aim of the study was to elucidate the causes of hereditary non-syndromic loss of hearing, a frequent monogene pathology in the Republic of Sakha (Yakutia). A search for mutations in the coding sequence of the connexin 26 gene gap-junction B2 (GJB2) was undertaken in 79 members of 65 unrelated families with the diagnosis of grade III-IV non-syndromic bilateral sensorineural loss of hearing. Five recessive mutations (35delG, V371, 312-326del14, 333-334delAA, R127H) and three polymorphic variants (V271, M34T, E114G) were identified in Yakut patients. Mutations 35delG (41.7%), 312-326dell4 (4.2%), and 333-334delAA (4.2%) were found in Caucasian patients (Russians, Ukrainians, Inguish). Yakuts were carriers of mutations 35delG (2.1%), V371 (2.1%), R127H (1.0%) and sequence variants V271 (6.3%), M34T (1.0%), E114G (1.0%). GJB2 mutations were identified in 50.1% of the Caucasian patients and in 7.2% of the Yakut patients. The low frequency of GJB2 mutations in Yakuts with non-syndromic sensorineural loss of hearing testifies to the presence of mutations of other genes controlling sound perception in this population.

  2. New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss

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    Mkaouar-Rebai, Emna; Tlili, Abdelaziz; Masmoudi, Saber; Charfeddine, Ilhem; Fakhfakh, Faiza

    2008-01-01

    The 12S rRNA gene was shown to be a hot spot for aminoglycoside-induced and non-syndromic hearing loss since several deafness-associated mtDNA mutations were identified in this gene. Among them, we distinguished the A1555G, the C1494T and the T1095C mutations and C-insertion or deletion at position 961. One hundred Tunisian patients with non-syndromic hearing loss and 100 hearing individuals were analysed in this study. A PCR-RFLP analysis with HaeIII restriction enzyme showed the presence of the A1555G mutation in the 12S rRNA gene in only one out of the 100 patients. In addition, PCR-RFLP and radioactive PCR revealed the presence of a new HaeIII polymorphic restriction site in the same gene of 12S rRNA site in 4 patients with non-syndromic hearing loss. UVIDOC-008-XD analyses showed the presence of this new polymorphic restriction site with a variable heteroplasmic rates at position +1517 of the human mitochondrial genome. On the other hand, direct sequencing of the entire mitochondrial 12S rRNA gene in the 100 patients and in 100 hearing individuals revealed the presence of the A750G and A1438G polymorphisms and the absence of the C1494T, T1095C and 961insC mutations in all the tested individuals. Sequencing of the whole mitochondrial genome in the 4 patients showing the new HaeIII polymorphic restriction site revealed only the presence of the A8860G transition in the MT-ATP6 gene and the A4769G polymorphism in the ND2 gene

  3. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.

    Science.gov (United States)

    Coyle, B; Coffey, R; Armour, J A; Gausden, E; Hochberg, Z; Grossman, A; Britton, K; Pembrey, M; Reardon, W; Trembath, R

    1996-04-01

    Inherited causes account for about 50% of individuals presenting with childhood (prelingual) hearing loss, of which 70% are due to mutation in numerous single genes which impair auditory function alone (non-syndromic). The remainder are associated with other developmental anomalies termed syndromic deafness. Genes responsible for syndromic forms of hearing loss include the COL4A5 gene in Alport syndrome and the PAX3 and MITF genes in Waardenburg syndrome. Pendred syndrome is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss and diffuse thyroid enlargement (goitre). Pendred syndrome is the most common syndromal form of deafness, yet the primary defect remains unknown. We have established a panel of 12 families with two or more affected individuals and used them to search for the location of the Pendred gene by linkage analysis. We excluded localization to four previously mapped nonsyndromic deafness loci but obtained conclusive evidence for linkage of the Pendred syndrome gene to microsatellite markers on chromosome 7q31 (D7S495 Zmax 7.32, Qmax = 0). This region contains a gene, DFNBL, for autosomal recessive non-syndromic sensorineural hearing loss. Multipoint analysis indicates that DFNB4 and Pendred syndrome co-localize to the same 5.5 centiMorgan (cM) interval flanked by D7S501 and D7S523. These data raise the possibility that Pendred syndrome is either allelic with DFNB4 or may represent an inherited contiguous gene disorder, not clinically manifest in the heterozygote.

  4. [Analysis of mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia].

    Science.gov (United States)

    Dzhemileva, L U; Posukh, O L; Tazetdinov, A M; Barashkov, N A; Zhuravskiĭ, S G; Ponidelko, S N; Markova, T G; Tadinova, V N; Fedorova, S A; Maksimova, N R; Khusnutdinova, E K

    2009-07-01

    Mitochondrial DNA (mtDNA) mutations play an important role in etiology of hereditary hearing loss. In various regions of the world, patients suffer from nonsyndromic sensorineural hearing loss initiated by aminoglycoside antibiotics. Mutations that had been shown as pathogenetically important for hearing function disturbance were identified in mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes while pathogenic role of several DNA sequences requires additional studies. This work presents the results of studying the spectrum of mutations and polymorphic variations in mtDNA genes 12S rRNA and tRNA(Ser(UGN)) in 410 patients with nonsyndromal sensoneural hearing impairment/loss from the Volga Ural region, St Petersburg, Yakutia, and Altai and in 520 individuals with normal hearing, which represent several ethnic groups (Russians, Tatars, Bashkirs, Yakuts, Altaians) residing in the Russian Federation. Pathogenetically significant mutation A1555G (12S rRNA) was found in two families (from Yakutia and St Peresburg) with hearing loss, probably caused by treatment with aminoglucosides, and in the population sample of Yakuts with a frequency of 0.83%. Further research is needed to confirm the role in hearing impairment of mutations 961insC, 961insC(n), 961delTinsC(n), T961G, T1095C (12S rRNA) and G7444A, A7445C (tRNA(Ser(UGN revealed in the patients. In addition, in the patients and the population groups, polymorphic mt DNA variants were detected, which are characteristic also of other Eurasian populations both in spectrum and frequency.

  5. Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene.

    Science.gov (United States)

    Kim, Juwon; Jung, Jinsei; Lee, Min Goo; Choi, Jae Young; Lee, Kyung-A

    2015-06-19

    GJB2 alleles containing two cis mutations have been rarely found in non-syndromic hearing loss. Herein, we present a Korean patient with non-syndromic hearing loss caused by the R75Q cis mutation with V37I, which arose de novo in the father and was inherited by the patient. Biochemical coupling and hemichannel permeability assays were performed after molecular cloning and transfection of HEK293T cells. Student's t-tests or analysis of variance followed by Tukey's multiple comparison test was used as statistical analysis. Biochemical coupling was significantly reduced in connexin 26 (Cx26)-R75Q- and Cx26-V37I-transfected cells, with greater extent in Cx26-R75Q and Cx26-R75Q+V37I cells. Interestingly, our patient and his father with the mutations had more residual hearing compared with patients with the dominant mutation alone. Although the difference in hemichannel activity between R75Q alone and R75Q in combination with V37I failed to reach significance, it is of note that there is a possibility that V37I located upstream of R75Q might have the ability to ameliorate R75Q expression. Our study emphasizes the importance of cis mutations with R75Q, as the gene effect of R75Q can be modulated depending on the type of additional mutation.

  6. Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

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    Aparna Ganapathy

    Full Text Available Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary hearing loss. To study the contribution of these genes to autosomal recessive, non-syndromic hearing loss (ARNSHL in India, we examined 374 families with the disorder to identify potential mutations. We found four mutations in TMPRSS3, eight in TMC1, ten in USHIC, eight in CDH23 and three in TMIE. Of the 33 potentially pathogenic variants identified in these genes, 23 were new and the remaining have been previously reported. Collectively, mutations in these five genes contribute to about one-tenth of ARNSHL among the families examined. New mutations detected in this study extend the allelic heterogeneity of the genes and provide several additional variants for structure-function correlation studies. These findings have implications for early DNA-based detection of deafness and genetic counseling of affected families in the Indian subcontinent.

  7. Identification of a novel homozygous mutation in MYO3A in a Chinese family with DFNB30 non-syndromic hearing impairment.

    Science.gov (United States)

    Qu, Ronggui; Sang, Qing; Xu, Yao; Feng, Ruizhi; Jin, Li; He, Lin; Wang, Lei

    2016-05-01

    Hearing loss is a common sensory impairment. Several genetic loci or genes responsible for non-syndrome hearing loss have been identified, including the well-known deafness genes GJB2, MT-RNR1 and SLC26A4. MYO3A belongs to the myosin superfamily. Previously only three mutations in this gene have been found in an Isreali family with DFNB30, in which patients demonstrated progressive hearing loss. In this study, we characterized a consanguineous Kazakh family with congenital hearing loss. By targeted sequence capture and next-generation sequencing, we identified a homozygous mutation and did bioinformatics analysis to this mutation. A homozygous mutation, MYO3A:c.1841C>T (p.S614F), was identified to be responsible for the disease. Ser614 is located in the motor domain of MYO3A that is highly conserved among different species. Molecular modeling predicts that the conserved Ser614 may play an important role in maintaining the stability of β-sheet and the interaction between neighboring β-strand. This is the second report on MYO3A mutations in deafness and the first report in China. The finding help facilitate establishing a better relationship between MYO3A mutation and hearing phenotypes. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  8. Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment

    Directory of Open Access Journals (Sweden)

    Hong-Yang Wang

    2015-01-01

    Full Text Available Background: There are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI, including 92 causative genes for nonsyndromic hearing loss, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI. Traditional linkage analysis and candidate gene sequencing are not effective at detecting the ADNSHHI, especially for the unconditional families that may have more than one pathogenic cause. This study identified two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional ADNSHHI. Methods: To decipher the genetic code of a Chinese family (family 686 with ADNSHHI, different gene screening techniques have been performed, including linkage analysis, candidate genes screening, high-throughput sequencing and Sanger sequencing. These techniques were done on samples obtained from this family over a period of 10 years. Results: We identified a pathogenic missense mutation, c. 2081G>A (p.G694E, in TJP2, a gene that plays a crucial role in apoptosis and age-related hearing loss (ARHL. The mutation was co-segregated in this pedigree in all, but not in the two patients who presented with different phenotypes from the other affected family members. In one of the two patients, we confirmed that the compound heterozygosity for p.Y136FNx01 and p.G45E in the GJB2 gene may account for the phenotype shown in this patient. Conclusions: We identified the co-occurrence of two genetic causes in family 686. The possible disease-causing missense mutation of TJP2 in family 686 presents an opportunity for further investigation into ARHL. It is necessary to combine various genes screening methods, especially for some unconventional cases.

  9. Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss

    International Nuclear Information System (INIS)

    Zhao Lidong; Wang Qiuju; Qian Yaping; Li Ronghua; Cao Juayng; Hart, Laura Christine; Zhai Suoqiang; Han Dongyi; Young Wieyen; Guan Minxin

    2005-01-01

    We report here the clinical, genetic, and molecular characterization of two Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects. Penetrances of hearing loss in BJ105 and BJ106 pedigrees are 67% and 33%, respectively. In particular, three of 10 affected matrilineal relatives of BJ105 pedigree had aminoglycoside-induced hearing loss, while seven affected matrilineal relatives in BJ105 pedigree and six affected matrilineal relatives in BJ106 pedigree did not have a history of exposure to aminoglycosides. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the identical homoplasmic A1555G mutation and distinct sets of mtDNA variants belonging to haplogroups F3 and M7b. These variants showed no evolutionary conservation, implying that mitochondrial haplotype may not play a significant role in the phenotypic expression of the A1555G mutation in these Chinese pedigrees. However, aminoglycosides and nuclear backgrounds appear to be major modifier factors for the phenotypic manifestation of the A1555G mutation in these Chinese families

  10. A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.

    Directory of Open Access Journals (Sweden)

    Zhijie Niu

    Full Text Available X-linked hearing impairment is the rarest form of genetic hearing loss (HL and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile73Asnfs*5 in SMPX was identified by whole-exome sequencing. The frameshift mutation predicted to result in the premature truncation of the SMPX protein was co-segregated with the HL phenotype and was absent in 295 normal controls. Subpopulation screening of the coding exons and flanking introns of SMPX was further performed for 338 Chinese patients with nonsydromic HL by Sanger sequencing, and another two potential causative substitutions (c.238C>A and c.55A>G in SMPX were identified in additional sporadic cases of congenital deafness. Collectively, this study is the first to report the role of SMPX in Chinese population and identify a novel frameshift mutation in SMPX that causes not only nonsyndromic late-onset progressive HL, but also congenital hearing impairment. Our findings extend the mutation and phenotypic spectrum of the SMPX gene.

  11. Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation

    International Nuclear Information System (INIS)

    Wang Qiuju; Li Qingzhong; Han Dongyi; Zhao Yali; Zhao Lidong; Qian Yaping; Yuan Hu; Li Ronghua; Zhai Suoqiang; Young Wieyen; Guan Minxin

    2006-01-01

    We report here the clinical, genetic, and molecular characterization of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Five of nine matrilineal relatives had aminoglycoside-induced hearing loss. These matrilineal relatives exhibited variable severity and audiometric configuration of hearing impairment, despite sharing some common features: being bilateral and having sensorineural hearing impairment. Sequence analysis of mitochondrial DNA (mtDNA) in the pedigree identified 16 variants and the homoplasmic 12S rRNA C1494T mutation, which was associated with hearing loss in the other large Chinese family. In fact, the occurrence of the C1494T mutation in these genetically unrelated pedigrees affected by hearing impairment strongly indicated that this mutation is involved in the pathogenesis of aminoglycoside-induced and nonsyndromic hearing loss. However, incomplete penetrance of hearing loss indicated that the C1494T mutation itself is not sufficient to produce a clinical phenotype but requires the involvement of modifier factors for the phenotypic expression. Those mtDNA variants, showing no evolutional conservation, may not have a potential modifying role in the pathogenesis of the C1494T mutation. However, nuclear background seems to contribute to the phenotypic variability of matrilineal relatives in this family. Furthermore, aminoglycosides modulate the expressivity and penetrance of deafness associated with the C1494T mutation in this family

  12. Clinical Application of Screening for GJB2 Mutations before Cochlear Implantation in a Heterogeneous Population with High Rate of Autosomal Recessive Nonsyndromic Hearing Loss

    Directory of Open Access Journals (Sweden)

    Masoud Motasaddi Zarandy

    2011-01-01

    Full Text Available Clinical application of mutation screening and its effect on the outcome of cochlear implantation is widely debated. We investigated the effect of mutations in GJB2 gene on the outcome of cochlear implantation in a population with a high rate of consanguineous marriage and autosomal recessive nonsyndromic hearing loss. Two hundred and one children with profound prelingual sensorineural hearing loss were included. Forty-six patients had 35delG in GJB2. Speech awareness thresholds (SATs and speech recognition thresholds (SRTs improved following implantation, but there was no difference in performance between patients with GJB2-related deafness versus control (all >0.10. Both groups had produced their first comprehensible words within the same period of time following implantation (2.27 months in GJB2-related deaf versus 2.62 months in controls, =0.22. Although our findings demonstrate the need to uncover unidentified genetic causes of hereditary deafness, they do not support the current policy for genetic screening before cochlear implantation, nor prove a prognostic value.

  13. A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct

    DEFF Research Database (Denmark)

    Chattaraj, Parna; Munjal, Tina; Honda, Keiji

    2017-01-01

    BACKGROUND: Enlargement of the vestibular aqueduct (EVA) is the most common radiological abnormality in children with sensorineural hearing loss. Mutations in coding regions and splice sites of the SLC26A4 gene are often detected in Caucasians with EVA. Approximately one-fourth of patients with E...

  14. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

    NARCIS (Netherlands)

    Cryns, K; Sivakumaran, TA; Van den Ouweland, JMW; Pennings, RJE; Cremers, CWRJ; Flothmann, K; Young, TL; Smith, RJH; Lesperance, MM; Van Camp, G

    2003-01-01

    WFS1 is a novel gene and encodes an 890 amino-acid glycoprotein (wolframin), predominantly localized in the endoplasmic reticulum. Mutations in WFS1 underlie autosomal recessive Wolfram syndrome and autosomal dominant low frequency sensorineural hearing impairment (LFSNHI) DFNA6/14. In addition,

  15. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.

    NARCIS (Netherlands)

    Cryns, K.; Sivakumaran, T.A.; Ouweland, J.M.W. van den; Pennings, R.J.E.; Cremers, C.W.R.J.; Flothmann, K.; Young, T.L.; Smith, R.J.H.; Lesperance, M.M.; Camp, G. van

    2003-01-01

    WFS1 is a novel gene and encodes an 890 amino-acid glycoprotein (wolframin), predominantly localized in the endoplasmic reticulum. Mutations in WFS1 underlie autosomal recessive Wolfram syndrome and autosomal dominant low frequency sensorineural hearing impairment (LFSNHI) DFNA6/14. In addition,

  16. KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA in Chinese subjects.

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    Jiandong Zhao

    Full Text Available BACKGROUND: Nonsyndromic enlargement of vestibular aqueduct (NSEVA is an autosomal recessive hearing loss disorder that is associated with mutations in SLC26A4. However, not all patients with NSEVA carry biallelic mutations in SLC26A4. A recent study proposed that single mutations in both SLC26A4 and KCNJ10 lead to digenic NSEVA. We examined whether KCNJ10 excert a role in the pathogenesis of NSEVA in Chinese patients. METHODS: SLC26A4 was sequenced in 1056 Chinese patients with NSEVA. KCNJ10 was screened in 131 patients who lacked mutations in either one or both alleles of SLC26A4. Additionally, KCNJ10 was screened in 840 controls, including 563 patients diagnosed with NSEVA who carried biallelic SLC26A4 mutations, 48 patients with nonsyndromic hearing loss due to inner ear malformations that did not involve enlargement of the vestibular aqueduct (EVA, 96 patients with conductive hearing loss due to various causes, and 133 normal-hearing individuals with no family history of hereditary hearing loss. RESULTS: 925 NSEVA patients were found carrying two-allele pathogenic SLC26A4 mutations. The most frequently detected KCNJ10 mutation was c.812G>A (p.R271H. Compared with the normal-hearing control subjects, the occurrence rate of c.812G>A in NSEVA patients with lacking mutations in one or both alleles of SLC26A4 had no significant difference(1.53% vs. 5.30%, χ(2 = 2.798, p = 0.172, which suggested that it is probably a nonpathogenic benign variant. KCNJ10 c.1042C>T (p.R348C, the reported EVA-related mutation, was not found in patients with NSEVA who lacked mutations in either one or both alleles of SLC26A4. Furthermore, the normal-hearing parents of patients with NSEVA having two SLC26A4 mutations carried the KCNJ10 c.1042C>T or c.812G>A mutation and a SLC26A4 pathogenic mutation. CONCLUSION: SLC26A4 is the major genetic cause in Chinese NSEVA patients, accounting for 87.59%. KCNJ10 may not be a contributor to NSEVA in Chinese population. Other

  17. WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case.

    Science.gov (United States)

    Gonçalves, A C; Matos, T D; Simões-Teixeira, H R; Pimenta Machado, M; Simão, M; Dias, O P; Andrea, M; Fialho, G; Caria, H

    2014-04-01

    Low-frequency sensorineural hearing loss (LFSNHL) is an unusual type of HL in which frequencies at 2,000 Hz and below are predominantly affected. Most of the families with LFSNHL carry missense mutations in WFS1 gene, coding for wolframin. A Portuguese patient aged 49, reporting HL since her third decade of life, and also referring tinnitus, was shown to display bilateral moderate LFSNHL after audiological evaluation. Molecular analysis led to the identification of a novel mutation, c.511G>A (p.Asp171Asn), found in heterozygosity in the exon 5 of the WFS1 gene, and changing the aspartic acid at position 171 to an asparagine, in the extracellular N-terminus domain of the wolframin protein. This novel mutation wasn't present either in 200 control chromosomes analyzed or in the hearing proband's half-brother, and it had not been reported in 1000 Genomes, Exome Variant Server, HGMD or dbSNP databases. No mutations were found in GJB2 and GJB6 genes. Multi-alignment of 27 wolframin sequences from mammalian species, against the human wolframin sequence in ConSurf, indicated a conservation score corresponding to 7 in a 1-9 color scale where 9 is conserved and 1 is variable. In addition, the mutation p.Asp171Asn was predicted to be damaging and possibly damaging by SIFT and Polyphen-2, respectively. The auditory phenotype of this patient could thus be due to the novel mutation p.Asp171Asn. Further functional characterization might enable to elucidate in which way the change in the residue 171, as other changes introduced by LFSNHL-associated mutations previously described, leads to this type of HL. Copyright © 2014 Elsevier B.V. All rights reserved.

  18. Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families

    International Nuclear Information System (INIS)

    Zhu Yi; Qian Yaping; Tang Xiaowen; Wang Jindan; Yang Li; Liao Zhisu; Li Ronghua; Ji Jinzhang; Li Zhiyuan; Chen Jianfu; Choo, Daniel I.; Lu Jianxin; Guan Minxin

    2006-01-01

    We report here the clinical, genetic, and molecular characterization of two Chinese families with aminoglycoside induced and non-syndromic hearing impairment. Clinical and genetic evaluations revealed the variable severity and age-of-onset in hearing impairment in these families. Strikingly, there were extremely low penetrances of hearing impairment in these Chinese families. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical G7444A mutation associated with hearing loss. Indeed, the G7444A mutation in the CO1 gene and the precursor of tRNA Ser(UCN) gene is present in homoplasmy only in the maternal lineage of those pedigrees but not other members of these families and 164 Chinese controls. Their mitochondrial genomes belong to the Eastern Asian haplogroups C5a and D4a, respectively. In fact, the occurrence of the G7444A mutation in these several genetically unrelated subjects affected by hearing impairment strongly indicates that this mutation is involved in the pathogenesis of hearing impairment. However, there was the absence of other functionally significant mtDNA mutations in two Chinese pedigrees carrying the G7444A mutation. Therefore, nuclear modifier gene(s) or aminoglycoside(s) may play a role in the phenotypic expression of the deafness-associated G7444A mutation in these Chinese pedigrees

  19. Exploring digenic inheritance in arrhythmogenic cardiomyopathy.

    Science.gov (United States)

    König, Eva; Volpato, Claudia Béu; Motta, Benedetta Maria; Blankenburg, Hagen; Picard, Anne; Pramstaller, Peter; Casella, Michela; Rauhe, Werner; Pompilio, Giulio; Meraviglia, Viviana; Domingues, Francisco S; Sommariva, Elena; Rossini, Alessandra

    2017-12-08

    Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failure and sudden cardiac death. ACM is considered a monogenic disorder, but the low penetrance of mutations identified in patients suggests the involvement of additional genetic or environmental factors. We used whole exome sequencing to investigate digenic inheritance in two ACM families where previous diagnostic tests have revealed a PKP2 mutation in all affected and some healthy individuals. In family members with PKP2 mutations we determined all genes that harbor variants in affected but not in healthy carriers or vice versa. We computationally prioritized the most likely candidates, focusing on known ACM genes and genes related to PKP2 through protein interactions, functional relationships, or shared biological processes. We identified four candidate genes in family 1, namely DAG1, DAB2IP, CTBP2 and TCF25, and eleven candidate genes in family 2. The most promising gene in the second family is TTN, a gene previously associated with ACM, in which the affected individual harbors two rare deleterious-predicted missense variants, one of which is located in the protein's only serine kinase domain. In this study we report genes that might act as digenic players in ACM pathogenesis, on the basis of co-segregation with PKP2 mutations. Validation in larger cohorts is still required to prove the utility of this model.

  20. Three common GJB2 mutations causing nonsyndromic hearing loss in Chinese populations are retained in the endoplasmic reticulum.

    Science.gov (United States)

    Zhang, Yanping; Wang, Ju; Li, Lina; Sun, Yurui; Feng, Bo

    2010-07-01

    The three most common GJB2 mutations found in the Chinese populations, c.235delC, c.299-300delAT, and c.176-191de1 (16) bp, cannot form gap junctons (GJs) in the plasma membrane. These mutant proteins were retained in the endoplasmic reticulum (ER), suggesting that ER stress (ERS) and subsequent ERS-induced cell death may be responsible for hearing loss caused by these GJB2 truncation mutations. The objective of this study was to investigate the subcellular location of the protein products of three GJB2 mutants (c.235de1C, c.299-300delAT, and c.176-191de1 (16) bp) and to explore the deafness mechanism caused by these GJB2 truncation mutations. Mutant-eGFP fusion protein vectors were constructed by PCR and TA cloning. HEK293 cells were transfected by a liposome-mediated method. Transfected cells were incubated with ER-Tracker and observed under a confocal microscope. Cells transfected with wild type gave characteristic punctuate patterns of GJs in the cell membrane. In contrast, c.235de1C, c.299-300delAT, and c.176-191de1 (16) bp mutant proteins were found to be trapped in the ER, and were therefore unable to form GJs in the plasma membrane.

  1. Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNASer(UCN) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss

    International Nuclear Information System (INIS)

    Yuan Huijun; Chen Jing; Liu Xin; Cheng Jing; Wang Xinjian; Yang Li; Yang Shuzhi; Cao Juyang; Kang Dongyang; Dai Pu; Zha, Suoqiang; Han Dongyi; Young Wieyen; Guan Minxin

    2007-01-01

    Mutations in mitochondrial DNA are one of the important causes of hearing loss. We report here the clinical, genetic, and molecular characterization of two Han Chinese pedigrees with maternally transmitted aminoglycoside-induced and nonsyndromic bilateral hearing loss. Clinical evaluation revealed the wide range of severity, age-at-onset, and audiometric configuration of hearing impairment in matrilineal relatives in these families. The penetrances of hearing loss in these pedigrees were 20% and 18%, when aminoglycoside-induced deafness was included. When the effect of aminoglycosides was excluded, the penetrances of hearing loss in these seven pedigrees were 10% and 15%. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the presence of the deafness-associated 12S rRNA C1494T and CO1/tRNA Ser(UCN) G7444A mutations. Their distinct sets of mtDNA polymorphism belonged to Eastern Asian haplogroup C4a1, while other previously identified six Chinese mitochondrial genomes harboring the C1494T mutation belong to haplogroups D5a2, D, R, and F1, respectively. This suggested that the C1494T or G7444A mutation occurred sporadically and multiplied through evolution of the mitochondrial DNA (mtDNA). The absence of functionally significant mutations in tRNA and rRNAs or secondary LHON mutations in their mtDNA suggest that these mtDNA haplogroup-specific variants may not play an important role in the phenotypic expression of the 12S rRNA C1494T and CO1/tRNA Ser(UCN) G7444A mutations in those Chinese families. However, aminoglycosides and other nuclear modifier genes play a modifying role in the phenotypic manifestation of the C1494T mutation in these Chinese families

  2. Centre-level variation in outcomes and treatment for otitis media with effusion and hearing loss and the association of hearing loss with developmental outcomes at ages 5 and 7 years in children with non-syndromic unilateral cleft lip and palate: The Cleft Care UK study. Part 2.

    Science.gov (United States)

    Hall, A; Wills, A K; Mahmoud, O; Sell, D; Waylen, A; Grewal, S; Sandy, J R; Ness, A R

    2017-06-01

    To explore centre-level variation in otitis media with effusion (OME), hearing loss and treatments in children in Cleft Care UK (CCUK) and to examine the association between OME, hearing loss and developmental outcomes at 5 and 7 years. Two hundred and sixty-eight 5-year-old British children with non-syndromic unilateral cleft lip and palate (UCLP) recruited to CCUK. Children had air and bone conduction audiometry at age 5. Information on grommet and hearing aid treatment was obtained from parental questionnaire and medical notes. Hearing loss at age 5 was defined as >20 dB in the better ear and history of OME and hearing loss was determined from past treatment. Children with sensorineural hearing loss were excluded. Associations were examined with speech, behaviour and self-confidence at age 5 and educational attainment at age 7. Centre variation was examined using hierarchical models and associations between hearing variables and developmental outcomes were examined using logistic regression. There was centre-level variation in early grommet placement (variance partition coefficient (VPC) 18%, P=.001) and fitting of hearing aids (VPC 8%, P=.03). A history of OME and hearing loss was associated with poor intelligibility of speech (adjusted odds ratio=2.87, 95% CI 1.42-5.77) and aspects of educational attainment. Hearing loss is an important determinant of poor speech and treatment variation across centres suggest management of OME and hearing loss could be improved. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  3. Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV.

    Science.gov (United States)

    Wang, Hong-Han; Feng, Yong; Li, Hai-Bo; Wu, Hong; Mei, Ling-Yun; Wang, Xing-Wei; Jiang, Lu; He, Chu-Feng

    2017-01-01

    Bartter syndrome type IV, characterized by salt-losing nephropathies and sensorineural deafness, is caused by mutations of BSND or simultaneous mutations of both CLCNKA and CLCNKB. GJB2 is the primary causative gene for non-syndromic sensorineural deafness and associated with several syndromic sensorineural deafness. Owing to the rarity of Bartter syndrome, only a few mutations have been reported in the abovementioned causative genes. To investigate the underlying mutations in a Chinese patient with Bartter syndrome type IV, genetic analysis of BSND, CLCNKA, CLCNKB and GJB2 were performed by polymerase chain reaction and direct sequencing. Finally, double homozygous mutations c.22C > T (p.Arg8Trp) and c.127G > A (Val43Ile) were detected in exon 1 of BSND. Intriguingly, compound heterozygous mutations c.235delC (p.Leu79CysfsX3) and c.109G > A (p.Val37Ile) were also revealed in exon 2 of GJB2 in the same patient. No pathogenic mutations were found in CLCNKA and CLCNKB. Our results indicated that the homozygous mutation c.22C > T was the key genetic reason for the proband, and a digenic effect of BSND and GJB2 might contributed to sensorineural deafness. To our knowledge, it was the first report showing that the GJB2 gene mutations were detected in Bartter syndrome. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  4. Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy

    DEFF Research Database (Denmark)

    Liu, Yangfan P.; Bosch, Daniëlle G.M.; Siemiatkowska, Anna M.

    2017-01-01

    Background: Retinitis pigmentosa (RP) is the most common cause of inherited retinal degeneration and can occur in non-syndromic and syndromic forms. Syndromic RP is accompanied by other symptoms such as intellectual disability, hearing loss, or congenital abnormalities. Both forms are known to ex...

  5. Mutations in a Novel Isoform of TRIOBP That Encodes a Filamentous-Actin Binding Protein Are Responsible for DFNB28 Recessive Nonsyndromic Hearing Loss

    OpenAIRE

    Shahin, Hashem; Walsh, Tom; Sobe, Tama; Abu Sa’ed, Judeh; Abu Rayan, Amal; Lynch, Eric D.; Lee, Ming K.; Avraham, Karen B.; King, Mary-Claire; Kanaan, Moein

    2005-01-01

    In a large consanguineous Palestinian kindred, we previously mapped DFNB28—a locus associated with recessively inherited, prelingual, profound sensorineural hearing impairment—to chromosome 22q13.1. We report here that mutations in a novel 218-kDa isoform of TRIOBP (TRIO and filamentous actin [F-actin] binding protein) are associated with DFNB28 hearing loss in a total of nine Palestinian families. Two nonsense mutations (R347X and Q581X) truncate the protein, and a potentially deleterious mi...

  6. Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations

    DEFF Research Database (Denmark)

    Topsakal, Vedat; Hilgert, Nele; van Dinther, Joost

    2010-01-01

    Clinical and audiological examination was done in 2 Belgian families with autosomal dominant sensorineural hearing loss (SNHL) linked to DFNA22. Nineteen subjects in family 1 had mild to moderate SNHL starting in the third decade. The hearing loss was characterized by a flat audiogram affecting all......Hz. For all hitherto known DFNA22 families the audiological and clinical characteristics were correlated with the molecular data. This study describes the phenotype of 2 Belgian families with SNHL linked to DFNA22, both with a pathogenic change in the deafness gene MYO6. The phenotypes of all hitherto...

  7. Alport syndrome: impact of digenic inheritance in patients management.

    Science.gov (United States)

    Fallerini, C; Baldassarri, M; Trevisson, E; Morbidoni, V; La Manna, A; Lazzarin, R; Pasini, A; Barbano, G; Pinciaroli, A R; Garosi, G; Frullanti, E; Pinto, A M; Mencarelli, M A; Mari, F; Renieri, A; Ariani, F

    2017-07-01

    Alport syndrome (ATS) is a genetically heterogeneous nephropathy with considerable phenotypic variability and different transmission patterns, including monogenic (X-linked/autosomal) and digenic inheritance (DI). Here we present a new series of families with DI and we discuss the consequences for genetic counseling and risk assessment. Out of five families harboring variants in more than one COL4 gene detected by next generation sequencing (NGS), minigene-splicing assay allowed us to identify four as true digenic. Two families showed COL4A3/A4 mutations in cis, mimicking an autosomal dominant inheritance with a more severe phenotype and one showed COL4A3/A4 mutations in trans, mimicking an autosomal recessive inheritance with a less severe phenotype. In a fourth family, a de novo mutation (COL4A5) combined with an inherited mutation (COL4A3) triggered a more severe phenotype. A fifth family, predicted digenic on the basis of silico tools, rather showed monogenic X-linked inheritance due to a hypomorphic mutation, in accordance with a milder phenotype. In conclusion, this study highlights the impact of DI in ATS and explains the associated atypical presentations. More complex inheritance should be therefore considered when reviewing prognosis and recurrence risks. On the other side, these findings emphasize the importance to accompany NGS with splicing assays in order to avoid erroneous identification of at risk members. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.

    Directory of Open Access Journals (Sweden)

    Dongyan Fan

    Full Text Available Different ethnic groups have distinct mutation spectrums associated with inheritable deafness. In order to identify the mutations responsible for congenital hearing loss in the Tibetan population, mutation screening for 98 deafness-related genes by microarray and massively parallel sequencing of captured target exons was conducted in one Tibetan family with familiar hearing loss. A homozygous mutation, TMPRSS3: c.535G>A, was identified in two affected brothers. Both parents are heterozygotes and an unaffected sister carries wild type alleles. The same mutation was not detected in 101 control Tibetan individuals. This missense mutation results in an amino acid change (p.Ala179Thr at a highly conserved site in the scavenger receptor cysteine rich (SRCR domain of the TMPRSS3 protein, which is essential for protein-protein interactions. Thus, this mutation likely affects the interactions of this transmembrane protein with extracellular molecules. According to our bioinformatic analyses, the TMPRSS3: c.535G>A mutation might damage protein function and lead to hearing loss. These data suggest that the homozygous mutation TMPRSS3: c.535G>A causes prelingual hearing loss in this Tibetan family. This is the first TMPRSS3 mutation found in the Chinese Tibetan population.

  9. Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran

    Directory of Open Access Journals (Sweden)

    Masoud Akbarzadeh Laleh

    2017-01-01

    Full Text Available Background: We aimed to determine the contribution of four DFNB loci and mutation analysis of gap junction beta-2 (GJB2 and GJB4 genes in autosomal recessive nonsyndromic hearing loss (ARNSHL in South of Iran. Materials and Methods: A total of 36 large ARNSHL pedigrees with at least two affected subjects were enrolled in the current study. The GJB2 and GJB4 genes mutations were screened using direct sequencing method. The GJB2 and GJB4 negative families were analyzed for the linkage to DFNB21, DFNB24, DFNB29, and DFNB42 loci by genotyping the corresponding STR markers using polymerase chain reaction-PAGE method. Results: We found a homozygous nonsense mutation W77X and a homozygous missense mutation C169W in 5.55% of studied families in GJB2 and GJB4 genes, respectively. Five heterozygous mutations including V63G, A78T, and R127H in GJB2 gene, and R103C and R227W in GJB4 gene were detected. We identified two novel variations V63G in GJB2 and R227W in GJB4. In silico analysis predicted that both novel variations are deleterious mutations. We did not unveil any linkage between DFNB21, DFNB24, DFNB29, and DFNB42 loci and ARNSHL among studied families. Conclusion: This is the first report of GJB2 and GJB4 mutations from Hormozgan population. According to the previous publications regarding GJB2 and GJB4 mutations, the distribution of the mutations is different from other parts of Iran that should be considered in primary health-care programs. Further investigations are needed to evaluate the contribution of other loci in ARNSHL subjects in South of Iran.

  10. Mutations in a Novel Isoform of TRIOBP That Encodes a Filamentous-Actin Binding Protein Are Responsible for DFNB28 Recessive Nonsyndromic Hearing Loss

    Science.gov (United States)

    Shahin, Hashem; Walsh, Tom; Sobe, Tama; Abu Sa’ed, Judeh; Abu Rayan, Amal; Lynch, Eric D.; Lee, Ming K.; Avraham, Karen B.; King, Mary-Claire; Kanaan, Moein

    2006-01-01

    In a large consanguineous Palestinian kindred, we previously mapped DFNB28—a locus associated with recessively inherited, prelingual, profound sensorineural hearing impairment—to chromosome 22q13.1. We report here that mutations in a novel 218-kDa isoform of TRIOBP (TRIO and filamentous actin [F-actin] binding protein) are associated with DFNB28 hearing loss in a total of nine Palestinian families. Two nonsense mutations (R347X and Q581X) truncate the protein, and a potentially deleterious missense mutation (G1019R) occurs in a conserved motif in a putative SH3-binding domain. In seven families, 27 deaf individuals are homozygous for one of the nonsense mutations; in two other families, 3 deaf individuals are compound heterozygous for the two nonsense mutations or for Q581X and G1019R. The novel long isoform of TRIOBP has a restricted expression profile, including cochlea, retina, and fetal brain, whereas the original short isoform is widely expressed. Antibodies to TRIOBP reveal expression in sensory cells of the inner ear and colocalization with F-actin along the length of the stereocilia. PMID:16385458

  11. Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26 in Syrian Patients with Nonsyndromic Hearing Impairment

    Directory of Open Access Journals (Sweden)

    Hazem Kaheel

    2017-01-01

    Full Text Available Background. Hearing impairments (HI are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is GJB2. The clinical interest regarding this gene is very pronounced due to its high carrier frequency (0.5–5.4% across different ethnic groups. This study aimed to determine the prevalence of common GJB2 mutations in Syrian patients with profound sensorineural HI. Methods. We carried out PCR, restriction enzyme based screening, and sequencing of 132 Syrian patients diagnosed clinically with hereditary deafness for different GJB2 mutations. Results. The result revealed that, in GJB2 gene, c.35delG is the most prevalent among affected studied subjects (13.64%, followed by c.457G>A (2.4%. Conclusion. The benefit of this study on the one hand is its first report of prelingual deafness causative gene mutations identified by sequencing technology in the Syrian families. It is obvious from the results that the deployment in biomedical research is highly effective and has a great impact on the ability to uncover the cause of genetic variation in different genetic diseases.

  12. Genetics Home Reference: nonsyndromic holoprosencephaly

    Science.gov (United States)

    ... brain divides into two halves ( hemispheres ) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish ...

  13. A Case Study in Byzantine Dragon-Slaying: Digenes and the Serpent

    Directory of Open Access Journals (Sweden)

    Christopher Livanos

    2011-03-01

    Full Text Available The Byzantine epic Digenes Akrites has similarities with ancient and medieval Iranian traditions that, in consideration of the epic’s Eastern settings, suggest Iranian influences. Digenes resembles dragon-slaying heroes of other Indo-European traditions. He also resembles the Irish hero Cú Chulainn in that he is not psychologically fit to live in the midst of the community that depends on his protection. Freudian readings of Digenes’ encounters with the dragon and the Amazon Maximou are proposed.

  14. CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

    OpenAIRE

    Astuto, L. M.; Bork, J. M.; Weston, M. D.; Askew, J. W.; Fields, R. R.; Orten, D. J.; Ohliger, S. J.; Riazuddin, S.; Morell, R. J.; Khan, S.; Riazuddin, S.; Kremer, H.; van Hauwe, P.; Moller, C. G.; Cremers, C. W. R. J.

    2002-01-01

    Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deaf...

  15. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

    Science.gov (United States)

    Ebermann, Inga; Phillips, Jennifer B.; Liebau, Max C.; Koenekoop, Robert K.; Schermer, Bernhard; Lopez, Irma; Schäfer, Ellen; Roux, Anne-Francoise; Dafinger, Claudia; Bernd, Antje; Zrenner, Eberhart; Claustres, Mireille; Blanco, Bernardo; Nürnberg, Gudrun; Nürnberg, Peter; Ruland, Rebecca; Westerfield, Monte; Benzing, Thomas; Bolz, Hanno J.

    2010-01-01

    Usher syndrome is a genetically heterogeneous recessive disease characterized by hearing loss and retinitis pigmentosa (RP). It frequently presents with unexplained, often intrafamilial, variability of the visual phenotype. Although 9 genes have been linked with Usher syndrome, many patients do not have mutations in any of these genes, suggesting that there are still unidentified genes involved in the syndrome. Here, we have determined that mutations in PDZ domain–containing 7 (PDZD7), which encodes a homolog of proteins mutated in Usher syndrome subtype 1C (USH1C) and USH2D, contribute to Usher syndrome. Mutations in PDZD7 were identified only in patients with mutations in other known Usher genes. In a set of sisters, each with a homozygous mutation in USH2A, a frame-shift mutation in PDZD7 was present in the sister with more severe RP and earlier disease onset. Further, heterozygous PDZD7 mutations were present in patients with truncating mutations in USH2A, G protein–coupled receptor 98 (GPR98; also known as USH2C), and an unidentified locus. We validated the human genotypes using zebrafish, and our findings were consistent with digenic inheritance of PDZD7 and GPR98, and with PDZD7 as a retinal disease modifier in patients with USH2A. Pdzd7 knockdown produced an Usher-like phenotype in zebrafish, exacerbated retinal cell death in combination with ush2a or gpr98, and reduced Gpr98 localization in the region of the photoreceptor connecting cilium. Our data challenge the view of Usher syndrome as a traditional Mendelian disorder and support the reclassification of Usher syndrome as an oligogenic disease. PMID:20440071

  16. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.

    Science.gov (United States)

    Ebermann, Inga; Phillips, Jennifer B; Liebau, Max C; Koenekoop, Robert K; Schermer, Bernhard; Lopez, Irma; Schäfer, Ellen; Roux, Anne-Francoise; Dafinger, Claudia; Bernd, Antje; Zrenner, Eberhart; Claustres, Mireille; Blanco, Bernardo; Nürnberg, Gudrun; Nürnberg, Peter; Ruland, Rebecca; Westerfield, Monte; Benzing, Thomas; Bolz, Hanno J

    2010-06-01

    Usher syndrome is a genetically heterogeneous recessive disease characterized by hearing loss and retinitis pigmentosa (RP). It frequently presents with unexplained, often intrafamilial, variability of the visual phenotype. Although 9 genes have been linked with Usher syndrome, many patients do not have mutations in any of these genes, suggesting that there are still unidentified genes involved in the syndrome. Here, we have determined that mutations in PDZ domain-containing 7 (PDZD7), which encodes a homolog of proteins mutated in Usher syndrome subtype 1C (USH1C) and USH2D, contribute to Usher syndrome. Mutations in PDZD7 were identified only in patients with mutations in other known Usher genes. In a set of sisters, each with a homozygous mutation in USH2A, a frame-shift mutation in PDZD7 was present in the sister with more severe RP and earlier disease onset. Further, heterozygous PDZD7 mutations were present in patients with truncating mutations in USH2A, G protein-coupled receptor 98 (GPR98; also known as USH2C), and an unidentified locus. We validated the human genotypes using zebrafish, and our findings were consistent with digenic inheritance of PDZD7 and GPR98, and with PDZD7 as a retinal disease modifier in patients with USH2A. Pdzd7 knockdown produced an Usher-like phenotype in zebrafish, exacerbated retinal cell death in combination with ush2a or gpr98, and reduced Gpr98 localization in the region of the photoreceptor connecting cilium. Our data challenge the view of Usher syndrome as a traditional Mendelian disorder and support the reclassification of Usher syndrome as an oligogenic disease.

  17. GJB2 and mitochondrial A1555G gene mutations in nonsyndromic ...

    Indian Academy of Sciences (India)

    GJB2 mutations in 21.4% of the families in this country. (Bayazit et al. 2003). In this study, GJB2 gene mutations were responsible for 14.7% of genetic nonsyndromic hear- ing losses and 12.5% of the familial cases. These results are lower than in the previous reports where the patient selec- tion criteria may play a role.

  18. Non-syndromic retinitis pigmentosa

    NARCIS (Netherlands)

    Verbakel, S.K. (Sanne K.); R.A.C. van Huet (Ramon A. C.); C.J.F. Boon (Camiel); A.I. Hollander (Anneke); R.W.J. Collin (Rob); C.C.W. Klaver (Caroline); C. Hoyng (Carel); R. Roepman (Ronald); B.J. Klevering (Jeroen)

    2018-01-01

    textabstractRetinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. Although the majority of RP cases are non-syndromic,

  19. Genetics Home Reference: CATSPER1-related nonsyndromic male infertility

    Science.gov (United States)

    ... related nonsyndromic male infertility CATSPER1-related nonsyndromic male infertility Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description CATSPER1 -related nonsyndromic male infertility is a condition that affects the function of ...

  20. Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

    NARCIS (Netherlands)

    Seco, C.Z.; Giese, A.P.; Shafique, S.; Schraders, M.; Oonk, A.M.; Grossheim, M.; Oostrik, J.; Strom, T.; Hegde, R.; WIjk, E. van; Frolenkov, G.I.; Azam, M.; Yntema, H.G.; Free, R.H.; Riazuddin, S.; Verheij, J.B.; Admiraal, R.J.; Qamar, R.; Ahmed, Z.M.; Kremer, H.

    2016-01-01

    Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI) (DFNB48). Here, a novel homozygous missense variant c.196C>T and compound heterozygous variants, c.[97C>T];[196C>T], were found, respectively, in two unrelated families of Dutch origin.

  1. Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

    NARCIS (Netherlands)

    Seco, Celia Zazo; Giese, Arnaud P.; Shafique, Sobia; Schraders, Margit; Oonk, Anne M. M.; Grossheim, Mike; Oostrik, Jaap; Strom, Tim; Hegde, Rashmi; van Wijk, Erwin; Frolenkov, Gregory I.; Azam, Maleeha; Yntema, Helger G.; Free, Rolien H.; Riazuddin, Saima; Verheij, Joke B. G. M.; Admiraal, Ronald J.; Qamar, Raheel; Ahmed, Zubair M.; Kremer, Hannie

    Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI) (DFNB48). Here, a novel homozygous missense variant c.196C>T and compound heterozygous variants, c.[97C>T];[196C>T], were found, respectively, in two unrelated families of Dutch origin.

  2. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

    NARCIS (Netherlands)

    Astuto, L.M.; Bork, J.M.; Weston, M.D.; Askew, J.W.; Fields, R.R.; Orten, D.J.; Ohliger, S.J.; Riazuddin, S.; Morell, R.J.; Khan, S.; Kremer, J.M.J.; Hauwe, P. van; Moller, C.G.; Cremers, C.W.R.J.; Ayuso, C.; Heckenlively, J.R.; Rohrschneider, K.; Spandau, U.; Greenberg, J.; Ramesar, R.S.; Reardon, W.; Bitoun, P.; Millan, J.; Legge, R.; Friedman, T.B.; Kimberling, W.J.

    2002-01-01

    Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness

  3. Elucidation of the Molecular Genetic Basis of Inherited Hearing Impairment.

    NARCIS (Netherlands)

    Luijendijk, M.W.J.

    2006-01-01

    Hearing loss is the most common sensory disorder in the human population. It affects 0.1% of all young children and by the age of 70, 30% of the population suffers from hearing loss greater than 40 dB. When early onset hearing loss is inherited, 70% is classified as nonsyndromic and 30% as

  4. Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)

    NARCIS (Netherlands)

    Luijendijk, M.W.J.; Wijk, E. van; Bischoff, A.M.L.C.; Krieger, E.; Huygen, P.L.M.; Pennings, R.J.E.; Brunner, H.G.; Cremers, C.W.R.J.; Cremers, F.P.M.; Kremer, J.M.J.

    2004-01-01

    Myosin VIIA is an unconventional myosin that has been implicated in Usher syndrome type 1B, atypical Usher syndrome, non-syndromic autosomal recessive hearing impairment (DFNB2) and autosomal dominant hearing impairment (DFNA11). Here, we present a family with non-syndromic autosomal dominant

  5. Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

    NARCIS (Netherlands)

    Luijendijk, M.W.J.; Wijk, E. van; Bischoff, A.M.L.C.; Krieger, E.; Huygen, P.L.M.; Pennings, R.J.E.; Brunner, H.G.; Cremers, C.W.R.J.; Cremers, F.P.M.; Kremer, J.M.J.

    2004-01-01

    Myosin VIIA is an unconventional myosin that has been implicated in Usher syndrome type 1B, atypical Usher syndrome, non-syndromic autosomal recessive hearing impairment (DFNB2) and autosomal dominant hearing impairment (DFNA11). Here, we present a family with non-syndromic autosomal dominant

  6. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

    NARCIS (Netherlands)

    Pierrache, Laurence H. M.; Hartel, Bas P.; van Wijk, Erwin; Meester-Smoor, Magda A.; Cremers, Frans P. M.; de Baere, Elfride; de Zaeytijd, Julie; van Schooneveld, Mary J.; Cremers, Cor W. R. J.; Dagnelie, Gislin; Hoyng, Carel B.; Bergen, Arthur A.; Leroy, Bart P.; Pennings, Ronald J. E.; van den Born, L. Ingeborgh; Klaver, Caroline C. W.

    2016-01-01

    USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP. Clinic-based, longitudinal, multicenter study.

  7. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

    NARCIS (Netherlands)

    Pierrache, Laurence H M; Hartel, Bas P; van Wijk, Erwin; Meester-Smoor, Magda A; Cremers, Frans P M; de Baere, Elfride; de Zaeytijd, Julie; van Schooneveld, Mary J; Cremers, Cor W R J; Dagnelie, Gislin; Hoyng, Carel B; Bergen, Arthur A; Leroy, Bart P; Pennings, Ronald J E; van den Born, L Ingeborgh; Klaver, Caroline C W

    2016-01-01

    PURPOSE: USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP. DESIGN: Clinic-based, longitudinal,

  8. Behavioral Signs of (Central) Auditory Processing Disorder in Children With Nonsyndromic Cleft Lip and/or Palate: A Parental Questionnaire Approach.

    Science.gov (United States)

    Ma, Xiaoran; McPherson, Bradley; Ma, Lian

    2016-03-01

    Objective Children with nonsyndromic cleft lip and/or palate often have a high prevalence of middle ear dysfunction. However, there are also indications that they may have a higher prevalence of (central) auditory processing disorder. This study used Fisher's Auditory Problems Checklist for caregivers to determine whether children with nonsyndromic cleft lip and/or palate have potentially more auditory processing difficulties compared with craniofacially normal children. Methods Caregivers of 147 school-aged children with nonsyndromic cleft lip and/or palate were recruited for the study. This group was divided into three subgroups: cleft lip, cleft palate, and cleft lip and palate. Caregivers of 60 craniofacially normal children were recruited as a control group. Hearing health tests were conducted to evaluate peripheral hearing. Caregivers of children who passed this assessment battery completed Fisher's Auditory Problems Checklist, which contains 25 questions related to behaviors linked to (central) auditory processing disorder. Results Children with cleft palate showed the lowest scores on the Fisher's Auditory Problems Checklist questionnaire, consistent with a higher index of suspicion for (central) auditory processing disorder. There was a significant difference in the manifestation of (central) auditory processing disorder-linked behaviors between the cleft palate and the control groups. The most common behaviors reported in the nonsyndromic cleft lip and/or palate group were short attention span and reduced learning motivation, along with hearing difficulties in noise. Conclusion A higher occurrence of (central) auditory processing disorder-linked behaviors were found in children with nonsyndromic cleft lip and/or palate, particularly cleft palate. Auditory processing abilities should not be ignored in children with nonsyndromic cleft lip and/or palate, and it is necessary to consider assessment tests for (central) auditory processing disorder when an

  9. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

    Science.gov (United States)

    Astuto, L M; Bork, J M; Weston, M D; Askew, J W; Fields, R R; Orten, D J; Ohliger, S J; Riazuddin, S; Morell, R J; Khan, S; Riazuddin, S; Kremer, H; van Hauwe, P; Moller, C G; Cremers, C W R J; Ayuso, C; Heckenlively, J R; Rohrschneider, K; Spandau, U; Greenberg, J; Ramesar, R; Reardon, W; Bitoun, P; Millan, J; Legge, R; Friedman, T B; Kimberling, W J

    2002-08-01

    Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deafness. Specific CDH23 mutational defects have been identified that differentiate these two phenotypes. Only missense mutations of CDH23 have been observed in families with nonsyndromic deafness, whereas nonsense, frameshift, splice-site, and missense mutations have been identified in families with Usher syndrome. In the present study, a panel of 69 probands with Usher syndrome and 38 probands with recessive nonsyndromic deafness were screened for the presence of mutations in the entire coding region of CDH23, by heteroduplex, single-strand conformation polymorphism, and direct sequence analyses. A total of 36 different CDH23 mutations were detected in 45 families; 33 of these mutations were novel, including 18 missense, 3 nonsense, 5 splicing defects, 5 microdeletions, and 2 insertions. A total of seven mutations were common to more than one family. Numerous exonic and intronic polymorphisms also were detected. Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP-like manifestations, indicating that missense mutations may have a subtle effect in the retina. Furthermore, patients with mutations in CDH23 display a wide range of hearing loss and RP phenotypes, differing in severity, age at onset, type, and the presence or absence of vestibular areflexia.

  10. CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

    Science.gov (United States)

    Astuto, L. M.; Bork, J. M.; Weston, M. D.; Askew, J. W.; Fields, R. R.; Orten, D. J.; Ohliger, S. J.; Riazuddin, S.; Morell, R. J.; Khan, S.; Riazuddin, S.; Kremer, H.; van Hauwe, P.; Moller, C. G.; Cremers, C. W. R. J.; Ayuso, C.; Heckenlively, J. R.; Rohrschneider, K.; Spandau, U.; Greenberg, J.; Ramesar, R.; Reardon, W.; Bitoun, P.; Millan, J.; Legge, R.; Friedman, T. B.; Kimberling, W. J.

    2002-01-01

    Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deafness. Specific CDH23 mutational defects have been identified that differentiate these two phenotypes. Only missense mutations of CDH23 have been observed in families with nonsyndromic deafness, whereas nonsense, frameshift, splice-site, and missense mutations have been identified in families with Usher syndrome. In the present study, a panel of 69 probands with Usher syndrome and 38 probands with recessive nonsyndromic deafness were screened for the presence of mutations in the entire coding region of CDH23, by heteroduplex, single-strand conformation polymorphism, and direct sequence analyses. A total of 36 different CDH23 mutations were detected in 45 families; 33 of these mutations were novel, including 18 missense, 3 nonsense, 5 splicing defects, 5 microdeletions, and 2 insertions. A total of seven mutations were common to more than one family. Numerous exonic and intronic polymorphisms also were detected. Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP–like manifestations, indicating that missense mutations may have a subtle effect in the retina. Furthermore, patients with mutations in CDH23 display a wide range of hearing loss and RP phenotypes, differing in severity, age at onset, type, and the presence or absence of vestibular areflexia. PMID:12075507

  11. Hear, Hear!

    Science.gov (United States)

    Rittner-Heir, Robbin

    2000-01-01

    Examines the problem of acoustics in school classrooms; the problems it creates for student learning, particularly for students with hearing problems; and the impediments to achieving acceptable acoustical levels for school classrooms. Acoustic guidelines are explored and some remedies for fixing sound problems are highlighted. (GR)

  12. Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss ...

    Indian Academy of Sciences (India)

    tion c.35delG is the most frequent mutation accounting for up to 86% of the GJB2 .... In the present study, 146 unrelated sensorineural NSHL patients were screened for ... vated incidence value for the c.35delG mutation in Europe concerns the ...

  13. Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.

    Science.gov (United States)

    Winata, S; Arhya, I N; Moeljopawiro, S; Hinnant, J T; Liang, Y; Friedman, T B; Asher, J H

    1995-01-01

    Bengkala is an Indonesian village located on the north shore of Bali that has existed for over 700 years. Currently, 2.2% of the 2185 people in this village have profound congenital deafness. In response to the high incidence of deafness, the people of Bengkala have developed a village specific sign language which is used by many of the hearing and deaf people. Deafness in Bengkala is congenital, sensorineural, non-syndromal, and caused by a fully penetrant autosomal recessive mutation at the DFNB3 locus. The frequency of the DFNB3 mutation is estimated to be 9.4% among hearing people who have a 17.2% chance of being heterozygous for DFNB3. PMID:7616538

  14. IRF6 mutation screening in non-syndromic orofacial clefting

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Koboldt, Daniel C; Kang, C. J.

    2016-01-01

    -syndromic OFCs. About 70% of causal VWS mutations occur in IRF6, a gene that is also associated with non-syndromic OFCs. Screening for IRF6 mutations in apparently non-syndromic cases has been performed in several modestly sized cohorts with mixed results. In this study, we screened 1521 trios with presumed non......-syndromic OFCs to determine the frequency of causal IRF6 mutations. We identified seven likely causal IRF6 mutations, although a posteriori review identified two misdiagnosed VWS families based on the presence of lip pits. We found no evidence for association between rare IRF6 polymorphisms and non......-syndromic OFCs. We combined our results with other similar studies (totaling 2472 families) and conclude that causal IRF6 mutations are found in 0.24–0.44% of apparently non-syndromic OFC families. We suggest that clinical mutation screening for IRF6 be considered for certain family patterns such as families...

  15. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).

    Science.gov (United States)

    Morell, R; Spritz, R A; Ho, L; Pierpont, J; Guo, W; Friedman, T B; Asher, J H

    1997-05-01

    Waardenburg syndrome (WS) is a clinically and genetically heterogeneous disease accounting for >2% of the congenitally deaf population. It is characterized by deafness in association with pigmentary anomalies and various defects of neural crest-derived tissues. At least four types are recognized (WS1, WS2, WS3 and WS4) on the basis of clinical and genetic criteria. Two previously described families seemed to delineate a new subtype characterized by WS2 in conjunction with ocular albinism (OA). Since mutations in the MITF gene are responsible for some instances of WS2, we screened for mutations in one of the WS2-OA families and discovered a 1 bp deletion in exon 8 of MITF. OA previously has been associated with compound heterozygosity for a mutant TYR allele and the TYR(R402Q) allele, a functionally significant polymorphism that is associated with moderately reduced tyrosinase catalytic activity. In this family, all of the individuals with the OA phenotype are either homozygous or heterozygous for TYR(R402Q), and heterozyous for the 1 bp deletion in MITF This suggests that the WS2-OA phenotype may result from digenic interaction between a gene for a transcription factor (MITF) and a gene that it regulates (TYR).

  16. Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment

    NARCIS (Netherlands)

    Beelen, E. van; Oonk, A.M.M.; Leijendeckers, J.M.; Hoefsloot, E.H.; Pennings, R.J.E.; Feenstra, I.; Dieker, H.J.; Huygen, P.L.M.; Snik, A.F.M.; Kremer, H.; Kunst, H.P.M.

    2016-01-01

    OBJECTIVES: Mutations in EYA4 can cause nonsyndromic autosomal dominant sensorineural hearing impairment (DFNA10) or a syndromic variant with hearing impairment and dilated cardiomyopathy. A mutation in EYA4 was found in a Dutch family, causing DFNA10. This study is focused on characterizing the

  17. Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.

    Science.gov (United States)

    McCormack, Shana E; Li, Dong; Kim, Yeon Joo; Lee, Ji Young; Kim, Soo-Hyun; Rapaport, Robert; Levine, Michael A

    2017-07-01

    Pituitary stalk interruption syndrome (PSIS, ORPHA95496) is a congenital defect of the pituitary gland characterized by the triad of a very thin/interrupted pituitary stalk, an ectopic (or absent) posterior pituitary gland, and hypoplasia or aplasia of the anterior pituitary gland. Complex genetic patterns of inheritance of this disorder are increasingly recognized. The objective of this study was to identify a genetic cause of PSIS in an affected child. Whole exome sequencing (WES) was performed by using standard techniques, with prioritized genetic variants confirmed via Sanger sequencing. To investigate the effects of one candidate variant on mutant WDR11 function, Western blotting and coimmunofluorescence were used to assess binding capacity, and leptomycin B exposure along with immunofluorescence was used to assess nuclear localization. We describe a child who presented in infancy with combined pituitary hormone deficiencies and whose brain imaging demonstrated a small anterior pituitary, ectopic posterior pituitary, and a thin, interrupted stalk. WES demonstrated heterozygous missense mutations in two genes required for pituitary development, a known loss-of-function mutation in PROKR2 (c.253C>T;p.R85C) inherited from an unaffected mother, and a WDR11 (c.1306A>G;p.I436V) mutation inherited from an unaffected father. Mutant WDR11 loses its capacity to bind to its functional partner, EMX1, and to localize to the nucleus. WES in a child with PSIS and his unaffected family implicates a digenic mechanism of inheritance. In cases of hypopituitarism in which there is incomplete segregation of a monogenic genotype with the phenotype, the possibility that a second genetic locus is involved should be considered. Copyright © 2017 Endocrine Society

  18. Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism.

    Science.gov (United States)

    Chiang, Pei-Wen; Spector, Elaine; McGregor, Tracy L

    2009-12-01

    Waardenburg syndrome (WS) is a series of auditory-pigmentary disorders inherited in an autosomal dominant manner. In most patients, WS2 results from mutations in the MITF gene. MITF encodes a basic helix-loop-helix transcription factor that activates transcription of tyrosinase and other melanocyte proteins. The clinical presentation of WS is highly variable, and we believe that Tietz syndrome and WS2 with ocular albinism (OA) are likely two variations of WS2 due to the presence of modifiers. One family with a molecular diagnosis of WS2 co-segregating with OA has previously been reported. A digenic mutation mechanism including both a MITF mutation and the TYR(R402Q) hypomorphic allele was proposed to be the cause of OA in this family. Here, we present a second WS2 family with OA and provide evidence suggesting the TYR(R402Q) allele does not cause OA in this family. We hypothesize the presence of a novel OCA3 mutation together with the MITF del p.R217 mutation account for the OA phenotype in this family. Since MITF is a transcription factor for pigmentation genes, a mutation in MITF plus a heterozygous mutation in OCA3 together provide an adverse effect crossing a quantitative threshold; therefore, WS2 with OA occurs. We have hypothesized previously that the clinical spectrum and mutation mechanism of OCA depend on the pigmentation threshold of an affected individual. This unique family has provided further evidence supporting this hypothesis. We suggest that by studying OCA patients alongside WS patients with various pigmentation profiles we can facilitate further understanding of the pigmentation pathway.

  19. Supernumerary teeth in non-syndromic patients

    Energy Technology Data Exchange (ETDEWEB)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh [Nair Hospital Dental College, Maharashtra (India)

    2012-03-15

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  20. Supernumerary teeth in non-syndromic patients

    International Nuclear Information System (INIS)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh

    2012-01-01

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  1. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

    NARCIS (Netherlands)

    Bespalova, I.N.; Camp, G. van; Bom, S.J.H.; Brown, D.J.; Cryns, K.; Wan, A.T. de; Erson, A.E.; Flothmann, K.; Kunst, H.P.M.; Kurnool, P.; Sivakumaran, T.A.; Cremers, C.W.R.J.; Leal, S.M.; Burmeister, M.; Lesperance, M.M.

    2001-01-01

    Non-syndromic low frequency sensorineural hearing loss (LFSNHL) affecting only 2000 Hz and below is an unusual type of hearing loss that worsens over time without progressing to profound deafness. This type of LFSNHL may be associated with mild tinnitus but is not associated with vertigo. We have

  2. An overview of hereditary hearing loss.

    Science.gov (United States)

    Bayazit, Yildirim A; Yilmaz, Metin

    2006-01-01

    Understanding the genetic basis of hearing loss is important because almost 50% of profound hearing loss are caused by genetic factors and more than 120 independent genes have been identified. In this review, after a brief explanation of some genetic terms (allele, heterozygosis, homozygosis, polymorphism, genotype and phenotype), classification of genetic hearing loss (syndromic versus nonsyndromic, and recessive dominant, X-linked and mitochondrial) was performed. Some of the most common syndromes (Usher, Pendred, Jervell and Lange-Nielsen, Waardenburg, branchio-oto-renal, Stickler, Treacher Collins and Alport syndromes, biotinidase deficiency and Norrie disease) causing genetic hearing loss were also explained briefly. The genes involved in hearing loss and genetic heterogeneity were presented. Copyright 2006 S. Karger AG, Basel.

  3. Mutation analysis of GJB2 gene and prenatal diagnosis in a non-syndromic deafness family

    Directory of Open Access Journals (Sweden)

    Xiao-hua CHEN

    2014-08-01

    Full Text Available Objective To identify the pathogenic gene in a non-syndromic deafness family, provide an accurate genetic consultation and early intervention for deaf family to reduce the incidence of congenital deafness. Methods Mutation analysis was carried out by polymerase chain reaction followed by DNA sequencing of coding region of GJB2 gene. The fetal DNA was extracted from the amniotic fluid cells by amniocentesis at 20 weeks during pregnancy. The genotype of the fetus was characterized for predicting the status of hearing. Results Complex heterozygous mutations 235delC and 176-191del16bp were detected in the proband of the family, heterozygous mutation 176-191del16bp was detected in the father, and 235delC was detected in the mother. Fetus carried 235delC heterozygous mutation inherited from his mother. Conclusions The proband's hearing loss is resulted from the complex heterozygous mutations 235delC and 176-191del16bp in GJB2 gene. Fetus is a heterozygous mutation 235delC carrier. Prenatal diagnosis for deafness assisted by genetic test can provide efficient guidance about offspring's hearing condition, and prevent another deaf-mute member from birth. DOI: 10.11855/j.issn.0577-7402.2014.07.09

  4. Hearing loss

    Science.gov (United States)

    Decreased hearing; Deafness; Loss of hearing; Conductive hearing loss; Sensorineural hearing loss; Presbycusis ... Symptoms of hearing loss may include: Certain sounds seeming too loud Difficulty following conversations when two or more people are talking ...

  5. About Hearing

    Science.gov (United States)

    ... Info to Go » Hearing-Related » About Hearing About Hearing Each child who is deaf or hard of ... the ear to the brain. Implications: When the hearing mechanism is not functioning Hearing may be impacted ...

  6. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.

    Science.gov (United States)

    Pierrache, Laurence H M; Hartel, Bas P; van Wijk, Erwin; Meester-Smoor, Magda A; Cremers, Frans P M; de Baere, Elfride; de Zaeytijd, Julie; van Schooneveld, Mary J; Cremers, Cor W R J; Dagnelie, Gislin; Hoyng, Carel B; Bergen, Arthur A; Leroy, Bart P; Pennings, Ronald J E; van den Born, L Ingeborgh; Klaver, Caroline C W

    2016-05-01

    USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP. Clinic-based, longitudinal, multicenter study. Consecutive patients with Usher syndrome type IIa (n = 152) and nonsyndromic RP (n = 73) resulting from USH2A mutations from ophthalmogenetic clinics in the Netherlands and Belgium. Data on clinical characteristics, visual acuity, visual field measurements, retinal imaging, and electrophysiologic features were extracted from medical charts over a mean follow-up of 9 years. Cumulative lifetime risks of low vision and blindness were estimated using Kaplan-Meier survival analysis. Low vision and blindness. Participant groups had similar distributions of gender (48% vs. 45% males in Usher syndrome type IIa vs. nonsydromic RP; P = 0.8), ethnicity (97% vs. 99% European; P = 0.3), and median follow-up time (6.5 years vs. 3 years; P = 0.3). Usher syndrome type IIa patients demonstrated symptoms at a younger age (median age, 15 years vs. 25 years; P syndromic phenotype, whereas other combinations were present in both groups. We found novel variants in Usher syndrome type IIa (25%) and nonsyndromic RP (19%): 29 missense mutations, 10 indels, 14 nonsense mutations, 9 frameshift mutations, and 5 splice-site mutations. Most patients with USH2A-associated RP have severe visual impairment by age 50. However, those with Usher syndrome type IIa have an earlier decline of visual function and a higher cumulative risk of visual impairment than those without nonsyndromic RP. Complete loss of function of the USH2A protein predisposes to Usher syndrome type IIa, but remnant protein function can lead to RP with or without hearing loss. Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

  7. Concordance of MRI and EEG Focal Slowing in Nonsyndromic Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-04-01

    Full Text Available Investigators at the Kangwon National University, Korea, and The Epilepsy Center, Lurie Children’s Hospital of Chicago, USA studied the correlation and significance of EEG focal slowing and focal MRI abnormalities in 253 children with nonsyndromic epilepsy.

  8. A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

    DEFF Research Database (Denmark)

    Bowl, Michael R.; Simon, Michelle M.; Ingham, Neil J.

    2017-01-01

    The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. O...

  9. Detection of cytomegalovirus in blood donors by PCR using the digene SHARP signal system assay: effects of sample preparation and detection methodology.

    OpenAIRE

    Krajden, M; Shankaran, P; Bourke, C; Lau, W

    1996-01-01

    Cytomegalovirus (CMV) is an important cause of transfusion-associated morbidity and mortality; however, only 0.4 to 12% of the blood products obtained from seropositive blood donors transmit infection. The effects of three commercially available whole-blood sample preparation kits on the detection of CMV PCR products by a semiquantitative adaptation of the Digene SHARP Signal System Assay (DSSSA) in samples from volunteer blood donors was assessed. Of 101 samples from seropositive blood donor...

  10. Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

    Science.gov (United States)

    Ahmed, Zubair M; Riazuddin, Saima; Aye, Sandar; Ali, Rana A; Venselaar, Hanka; Anwar, Saima; Belyantseva, Polina P; Qasim, Muhammad; Riazuddin, Sheikh; Friedman, Thomas B

    2008-10-01

    Mutations of PCDH15, encoding protocadherin 15, can cause either combined hearing and vision impairment (type 1 Usher syndrome; USH1F) or nonsyndromic deafness (DFNB23). Human PCDH15 is reported to be composed of 35 exons and encodes a variety of isoforms with 3-11 ectodomains (ECs), a transmembrane domain and a carboxy-terminal cytoplasmic domain (CD). Building on these observations, we describe an updated gene structure that has four additional exons of PCDH15 and isoforms that can be subdivided into four classes. Human PCDH15 encodes three alternative, evolutionarily conserved unique cytoplasmic domains (CD1, CD2 or CD3). Families ascertained on the basis of prelingual hearing loss were screened for linkage of this phenotype to markers for PCDH15 on chromosome 10q21.1. In seven of twelve families segregating USH1, we identified homozygous mutant alleles (one missense, one splice site, three nonsense and two deletion mutations) of which six are novel. One family was segregating nonsyndromic deafness DFNB23 due to a homozygous missense mutation. To date, in our cohort of 557 Pakistani families, we have found 11 different PCDH15 mutations that account for deafness in 13 families. Molecular modeling provided mechanistic insight into the phenotypic variation in severity of the PCDH15 missense mutations. We did not find pathogenic mutations in five of the twelve USH1 families linked to markers for USH1F, which suggest either the presence of mutations of yet additional undiscovered exons of PCDH15, mutations in the introns or regulatory elements of PCDH15, or an additional locus for type I USH at chromosome 10q21.1.

  11. Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

    Science.gov (United States)

    McGee, Terri L; Seyedahmadi, Babak Jian; Sweeney, Meredith O; Dryja, Thaddeus P; Berson, Eliot L

    2010-07-01

    Usher syndrome type II (USH2) is an autosomal recessive disorder characterised by retinitis pigmentosa (RP) and mild to moderate sensorineural hearing loss. Mutations in the USH2A gene are the most common cause of USH2 and are also a cause of some forms of RP without hearing loss (ie, non-syndromic RP). The USH2A gene was initially identified as a transcript comprised of 21 exons but subsequently a longer isoform containing 72 exons was identified. The 51 exons unique to the long isoform of USH2A were screened for mutations among a core set of 108 patients diagnosed with USH2 and 80 patients with non-syndromic RP who were all included in a previously reported screen of the short isoform of USH2A. For several exons, additional patients were screened. In total, 35 deleterious mutations were identified including 17 nonsense mutations, 9 frameshift mutations, 5 splice-site mutations, and 4 small in-frame deletions or insertions. Twenty-seven mutations were novel. In addition, 65 rare missense changes were identified. A method of classifying the deleterious effect of the missense changes was developed using the summed results of four different mutation assessment algorithms, SIFT, pMUT, PolyPhen, and AGVGD. This system classified 8 of the 65 changes as 'likely deleterious' and 9 as 'possibly deleterious'. At least one mutation was identified in 57-63% of USH2 cases and 19-23% of cases of non-syndromic recessive RP (calculated without and including probable/possible deleterious changes) thus supporting that USH2A is the most common known cause of RP in the USA.

  12. Allelic mutations of KITLG, encoding KIT ligand, cause asymmetric and unilateral hearing loss and Waardenburg syndrome type 2

    NARCIS (Netherlands)

    Zazo Seco, C. (Celia); Serrão De Castro, L. (Luciana); J.W.I. van Nierop; Morín, M. (Matías); S.N. Jhangiani (Shalini N.); E.J.J. Verver (Eva J. J.); M. Schraders (Margit); Maiwald, N. (Nadine); Wesdorp, M. (Mieke); H. Venselaar (Hanka); L. Spruijt (Liesbeth); Oostrik, J. (Jaap); J. Schoots (Jeroen); J. van Reeuwijk (Jeroen); Lelieveld, S.H. (Stefan H.); P.L.M. Huygen (Patrick); Insenser, M. (María); R.J. Admiraal (Ronald); R.J.E. Pennings (Ronald J.E.); E.H. Hoefsloot (Lies); A. Arias-Vásquez (Alejandro); J. de Ligt (Joep); H.G. Yntema; Jansen, J.H. (Joop H.); D. Muzny (Donna); G. Huls (Gerwin); M.M. van Rossum (Michelle); J.R. Lupski (James R.); Moreno-Pelayo, M.A. (Miguel Angel); H.P.M. Kunst (Henricus P.M.); H. Kremer (Hannie)

    2015-01-01

    textabstractLinkage analysis combined with whole-exome sequencing in a large family with congenital and stable non-syndromic unilateral and asymmetric hearing loss (NS-UHL/AHL) revealed a heterozygous truncating mutation, c.286-303delinsT (p.Ser96Ter), in KITLG. This mutation co-segregated with

  13. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

    NARCIS (Netherlands)

    Zazo Seco, C.; Castro, L.S. de; Nierop, J.W. van; Morin, M.; Jhangiani, S.; Verver, E.J.; Schraders, M.; Maiwald, N.; Wesdorp, F.M.; Venselaar, H.; Spruijt, L.; Oostrik, J.; Schoots, J.; Reeuwijk, J. van; Lelieveld, S.H.; Huygen, P.L.M.; Insenser, M.; Admiraal, R.J.C.; Pennings, R.J.E.; Hoefsloot, L.H.; Arias Vasquez, A.; Ligt, J. de; Yntema, H.G.; Jansen, J.H.; Muzny, D.M.; Huls, G.A.; Rossum, M.M. van; Lupski, J.R.; Moreno-Pelayo, M.A.; Kunst, H.P.M.; Kremer, H.

    2015-01-01

    Linkage analysis combined with whole-exome sequencing in a large family with congenital and stable non-syndromic unilateral and asymmetric hearing loss (NS-UHL/AHL) revealed a heterozygous truncating mutation, c.286_303delinsT (p.Ser96Ter), in KITLG. This mutation co-segregated with NS-UHL/AHL as a

  14. A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family

    NARCIS (Netherlands)

    Siddiqi, S.; Ismail, M.; Oostrik, J.; Munawar, S.; Mansoor, A.; Kremer, H.; Qamar, R.; Schraders, M.

    2014-01-01

    With homozygosity mapping we have identified two large homozygous regions on chromosome 3q13.11-q13.31 and chromosome 19p13.3-q31.32 in a large Pakistani family suffering from autosomal recessive nonsyndromic hearing impairment (arNSHI). The region on chromosome 19 overlaps with the previously

  15. Spelling Processes of Children With Nonsyndromic Cleft Lip and/or Palate: A Preliminary Study.

    Science.gov (United States)

    Lee, Karen Shi Mei; Young, Selena Ee-Li; Liow, Susan Jane Rickard; Purcell, Alison Anne

    2015-01-01

    Objective :  To compare the cognitive-linguistic processes underlying spelling performance of children with cleft lip and/or palate with those of typically developing children. Design :  An assessment battery including tests of hearing, articulation, verbal short-term and working memory, and phonological awareness, as well as word and nonword spelling, was administered to both groups. Participants :  A total of 15 children with nonsyndromic cleft lip and/or palate were case-matched by age and sex to 15 typically developing children. The children were aged between 6 and 8 years and were bilingual, with English the dominant language. Results :  Wilcoxon signed-rank tests revealed that the performance of children with cleft lip and/or palate was significantly poorer on phoneme deletion and nonword spelling (P spelling measures for the cleft lip and/or palate and typically developing groups. Conclusions :  Children with cleft lip and/or palate underachieve in phonological awareness and spelling skills. To facilitate early intervention for literacy problems, speech-language pathologists should routinely assess the cognitive-linguistic processing of children with cleft lip and/or palate, especially phonological awareness, as part of their case management protocols.

  16. DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.

    Science.gov (United States)

    Khan, Shahid Yar; Riazuddin, Saima; Shahzad, Mohsin; Ahmed, Nazir; Zafar, Ahmad Usman; Rehman, Atteeq Ur; Morell, Robert J; Griffith, Andrew J; Ahmed, Zubair M; Riazuddin, Sheikh; Friedman, Thomas B

    2010-01-01

    Genetic analysis of an inbred Pakistani family PKDF280, segregating prelingual severe to profound sensorineural hearing loss, provided evidence for a DFNB locus on human chromosome 9q34.3. Co-segregation of the deafness trait with marker D9SH159 was determined by a two-point linkage analysis (LOD score 9.43 at theta=0). Two additional large families, PKDF517 and PKDF741, co-segregate recessive deafness with markers linked to the same interval. Haplotype analyses of these three families refined the interval to 3.84 Mb defined by D9S1818 (centromeric) and D9SH6 (telomeric). This interval overlaps with the previously reported DFNB33 locus whose chromosomal map position has been recently revised and assigned to a new position on chromosome 10p11.23-q21.1. The nonsyndromic deafness locus on chromosome 9q segregating in family PKDF280 was designated DFNB79. We are currently screening the 113 candidate DFNB79 genes for mutations and have excluded CACNA1B, EDF1, PTGDS, EHMT1, QSOX2, NOTCH1, MIR126 and MIR602.

  17. Genetic mutation susceptibility of hearing loss in child with severe neonatal jaundice

    International Nuclear Information System (INIS)

    Zahedi, F.D.; Rahman, R.A.; Abdullah, A.

    2015-01-01

    This case report demonstrates a case of 5-year-old non-syndromic Malay boy who passed the hearing screening test however he was confirmed has bilateral profound sensorineural hearing loss diagnosed at 3 months of age by brain stem evoked response (BSER). He has background history of severe neonatal jaundice and male siblings of hearing impairment. The antenatal and birth history was uneventful apart from maternal hypothyroidism. His other two elder brothers have bilateral sensorineural hearing loss and history of severe neonatal jaundice as well. The ear examinations, computed tomography scan and magnetic resonance imaging revealed normal findings. Right sided cochlear implantation was done at the age of 3 years old and he is still under audiology follow-up. Conclusion: Genetic studies are important to determine the cause of genetic mutation in susceptibility to hearing impairment that run in his family after severe neonatal jaundice. Those baby with risk of developing hearing loss required diagnostic hearing assessment. (author)

  18. Genetics of syndromic and non-syndromic mitral valve prolapse.

    Science.gov (United States)

    Le Tourneau, Thierry; Mérot, Jean; Rimbert, Antoine; Le Scouarnec, Solena; Probst, Vincent; Le Marec, Hervé; Levine, Robert A; Schott, Jean-Jacques

    2018-01-19

    Mitral valve prolapse (MVP) is a common condition that affects 2%-3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degeneration and fibroelastic deficiency (FED) are regarded as two different forms of non-syndromic MVP. While FED is still considered a degenerative disease associated with ageing, frequent familial clustering has been demonstrated for myxomatous MVP. Familial and genetic studies led to the recognition of reduced penetrance and large phenotypic variability, and to the identification of prodromal or atypical forms as a part of the complex spectrum of the disease. Whereas autosomal dominant mode is the common inheritance pattern, an X linked form of non-syndromic MVP was recognised initially, related to Filamin-A gene, encoding for a cytoskeleton protein involved in mechanotransduction. This identification allowed a comprehensive description of a new subtype of MVP with a unique association of leaflet prolapse and paradoxical restricted motion in diastole. In autosomal dominant forms, three loci have been mapped to chromosomes 16p11-p12, 11p15.4 and 13q31-32. Although deciphering the underlying genetic defects is still a work in progress, DCHS1 mutations have been identified (11p15.4) in typical myxomatous disease, highlighting new molecular pathways and pathophysiological mechanisms leading to the development of MVP. Finally, a large international genome-wide association study demonstrated the implication of frequent variants in MVP development and opened new directions for future research. Hence, this review focuses on phenotypic, genetic and pathophysiological aspects of MVP. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  19. Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss

    Directory of Open Access Journals (Sweden)

    Célia Nogueira

    2011-01-01

    Full Text Available The understanding of the molecular genetics in sensorineural hearing loss (SNHL has advanced rapidly during the last decade, but the molecular etiology of hearing impairment in the Portuguese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we analyzed the whole mitochondrial genome in 95 unrelated children with SNHL (53 nonsyndromic and 42 syndromic and searched for variations in two frequent genes, GJB2 and GJB6, in the non-syndromic patients. Mutations in mtDNA were detected in 4.2% of the cases, including a hitherto undescribed change in the mtDNA-tRNATrp gene (namely, m.5558A>G. We also identified mono- or biallelic GJB2 mutations in 20 of 53 non-syndromic cases and also detected two novel mutations (p.P70R and p.R127QfsX84. Our data further reinforce the notion that genetic heterogeneity is paramount in children with SNHL.

  20. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

    Science.gov (United States)

    Lenassi, Eva; Vincent, Ajoy; Li, Zheng; Saihan, Zubin; Coffey, Alison J; Steele-Stallard, Heather B; Moore, Anthony T; Steel, Karen P; Luxon, Linda M; Héon, Elise; Bitner-Glindzicz, Maria; Webster, Andrew R

    2015-01-01

    Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we screened USH2A in 186 probands with recessive retinal disease and no hearing complaint in childhood (discovery cohort) and in 84 probands with recessive retinal disease (replication cohort). Detailed phenotyping, including retinal imaging and audiological assessment, was performed in individuals with two likely disease-causing USH2A variants. Further genetic testing, including screening for a deep-intronic disease-causing variant and large deletions/duplications, was performed in those with one likely disease-causing change. Overall, 23 of 186 probands (discovery cohort) were found to harbour two likely disease-causing variants in USH2A. Some of these variants were predominantly associated with nonsyndromic retinal degeneration (‘retinal disease-specific'); these included the common c.2276 G>T, p.(Cys759Phe) mutation and five additional variants: c.2802 T>G, p.(Cys934Trp); c.10073 G>A, p.(Cys3358Tyr); c.11156 G>A, p.(Arg3719His); c.12295-3 T>A; and c.12575 G>A, p.(Arg4192His). An allelic hierarchy was observed in the discovery cohort and confirmed in the replication cohort. In nonsyndromic USH2A disease, retinopathy was consistent with retinitis pigmentosa and the audiological phenotype was variable. USH2A retinopathy is a common cause of nonsyndromic recessive retinal degeneration and has a different mutational spectrum to that observed in Usher syndrome. The following model is proposed: the presence of at least one ‘retinal disease-specific' USH2A allele in a patient with USH2A-related disease results in the preservation of normal hearing. Careful genotype–phenotype studies such as this will become increasingly important, especially now that high-throughput sequencing is widely used in the clinical setting. PMID:25649381

  1. Hearing Screening

    Science.gov (United States)

    Johnson-Curiskis, Nanette

    2012-01-01

    Hearing levels are threatened by modern life--headsets for music, rock concerts, traffic noises, etc. It is crucial we know our hearing levels so that we can draw attention to potential problems. This exercise requires that students receive a hearing screening for their benefit as well as for making the connection of hearing to listening.

  2. Is Celiac Disease an Etiological Factor in Children with Nonsyndromic Intellectual Disability?

    Science.gov (United States)

    Sezer, Taner; Balcı, Oya; Özçay, Figen; Bayraktar, Nilufer; Alehan, Füsun

    2016-03-01

    To determine the prevalence of celiac disease in children and adolescents with nonsyndromic intellectual disability, we investigated serum levels of tissue transglutaminase antibody and total IgA from 232 children with nonsyndromic intellectual disability and in a healthy control group of 239 children. Study participants who were positive for tissue transglutaminase antibody underwent a duodenal biopsy. A total of 3 patients in the nonsyndromic intellectual disability group (5.45%) and 1 in the control group (0.41%) had positive serum tissue transglutaminase antibody (P > .05). Duodenal biopsy confirmed celiac disease in only 1 patient who had nonsyndromic intellectual disability. In this present study, children with nonsyndromic intellectual disability did not exhibit a higher celiac disease prevalence rate compared with healthy controls. Therefore, we suggest that screening test for celiac disease should not be necessary as a part of the management of mild and moderate nonsyndromic intellectual disability. However, cases of severe nonsyndromic intellectual disability could be examined for celiac disease. © The Author(s) 2015.

  3. Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

    Science.gov (United States)

    Pera, Alejandra; Dossena, Silvia; Rodighiero, Simona; Gandía, Marta; Bottà, Guido; Meyer, Giuliano; Moreno, Felipe; Nofziger, Charity; Hernández-Chico, Concepción; Paulmichl, Markus

    2008-01-01

    Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct (EVA) to Mondini malformation, and deficient iodide organification in the thyroid gland. Nonsyndromic EVA (ns-EVA) is a separate type of sensorineural hearing loss showing normal thyroid function. Both Pendred syndrome and ns-EVA seem to be linked to the malfunction of pendrin (SLC26A4), a membrane transporter able to exchange anions between the cytosol and extracellular fluid. In the past, the pathogenicity of SLC26A4 missense mutations were assumed if the mutations fulfilled two criteria: low incidence of the mutation in the control population and substitution of evolutionary conserved amino acids. Here we show that these criteria are insufficient to make meaningful predictions about the effect of these SLC26A4 variants on the pendrin-induced ion transport. Furthermore, we functionally characterized 10 missense mutations within the SLC26A4 ORF, and consistently found that on the protein level, an addition or omission of a proline or a charged amino acid in the SLC26A4 sequence is detrimental to its function. These types of changes may be adequate for predicting SLC26A4 functionality in the absence of direct functional tests. PMID:19017801

  4. Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss

    DEFF Research Database (Denmark)

    Kokotas, Haris; Grigoriadou, Maria; Yang, Li

    2011-01-01

    Mitochondrial mutations have been shown to be responsible for syndromic as well as non-syndromic hearing loss. The G7444A mitochondrial DNA mutation affects COI/the precursor of tRNA(Ser(UCN)), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G74...

  5. Advances in the Understanding of the Genetic Causes of Hearing Loss in Children Inform a Rational Approach to Evaluation.

    Science.gov (United States)

    Carey, John C; Palumbos, Janice C

    2016-10-01

    Hearing loss represents the most common sensory disability of children. Remarkable advances in the identification of genes underlying nonsyndromic and syndromic hearing loss in just the last 2 decades have led to the ability to determine the specific genetic cause of hearing loss in many children. Surprisingly one gene, GJB2, encoding the protein connexin-26, accounts for about 20 % of sensorineural hearing loss (including in India) and is considered the first tier test in evaluating an infant with unexplained congenital hearing loss. Using the knowledge of the etiology of hearing loss, the authors propose a diagnostic reasoning process for the assessment of a child in the pediatric setting. Second tier testing consists of the multiple gene panels using whole exome sequencing strategies, and is becoming available in some regions of the world including the US. Referral to medical genetics is always a consideration in a child with no explanation for the hearing loss and in families with questions about recurrence risk.

  6. Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting

    DEFF Research Database (Denmark)

    Roosenboom, Jasmien; Indencleef, Karlijne; Hens, Greet

    2017-01-01

    Nonsyndromic orofacial clefts (OFCs) are complex traits characterized by multifactorial inheritance and wide phenotypic variability. Numerous studies have shown subtle differences in the faces of unaffected relatives from cleft families compared to controls, the implication being that such outwar...

  7. Hearing Aids

    Science.gov (United States)

    ... primarily useful in improving the hearing and speech comprehension of people who have hearing loss that results ... and you can change the program for different listening environments—from a small, quiet room to a ...

  8. Hear, hear, what, what

    Energy Technology Data Exchange (ETDEWEB)

    1985-02-01

    Noise is now the most serious health hazard in industry. People risk suffering severe damage to their hearing and health generally through exposure to noise levels which exceed the risk limit of 95-90 dB(A). Stress related problems are often directly the result of exposure to noise. Furthermore, noise leads to reduced productivity, increased absenteeism and compensation claims. In a series of eight reports, Bilson technologists detail the specific noise problems commonly encountered in each of the major areas of industry. These range from the concrete and construction industry through sawmilling, wood working, mining and mechanical engineering, to textile and food manufacture. This report discusses the noise in mining, considering drills, load haul dump machines, surface mines, earth moving equipment, treatment plants, frequency spectra of noise, and finally, choice of hearing protection.

  9. Hearing Problems

    Science.gov (United States)

    ... Read MoreDepression in Children and TeensRead MoreBMI Calculator Hearing ProblemsLoss in the ability to hear or discriminate ... This flow chart will help direct you if hearing loss is a problem for you or a ...

  10. Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

    Science.gov (United States)

    Doucette, Lance; Merner, Nancy D; Cooke, Sandra; Ives, Elizabeth; Galutira, Dante; Walsh, Vanessa; Walsh, Tom; MacLaren, Linda; Cater, Tracey; Fernandez, Bridget; Green, Jane S; Wilcox, Edward R; Shotland, Lawrence I; Shotland, Larry; Li, Xiaoyan Cindy; Li, X C; Lee, Ming; King, Mary-Claire; Young, Terry-Lynn

    2009-05-01

    We studied a consanguineous family (Family A) from the island of Newfoundland with an autosomal recessive form of prelingual, profound, nonsyndromic sensorineural hearing loss. A genome-wide scan mapped the deafness trait to 10q21-22 (max LOD score of 4.0; D10S196) and fine mapping revealed a 16 Mb ancestral haplotype in deaf relatives. The PCDH15 gene was mapped within the critical region and was an interesting candidate because truncating mutations cause Usher syndrome type IF (USH1F) and two missense mutations have been previously associated with isolated deafness (DFNB23). Sequencing of the PCDH15 gene revealed 33 sequencing variants. Three of these variants were homozygous exclusively in deaf siblings but only one of them was not seen in ethnically matched controls. This novel c.1583 T>A transversion predicts an amino-acid substitution of a valine with an aspartic acid at codon 528 (V528D). Like the two DFNB23 mutations, the V528D mutation in Family A occurs in a highly conserved extracellular cadherin (EC) domain of PCDH15 and is predicted to be more deleterious than the previously identified DFNB23 missense mutations (R134G and G262D). Physical assessment, vestibular and visual function testing in deaf adults ruled out syndromic deafness because of Usher syndrome. This study validates the DFNB23 designation and supports the hypothesis that missense mutations in conserved motifs of PCDH15 cause nonsyndromic hearing loss. This emerging genotype-phenotype correlation in USH1F is similar to that in several other USH1 genes and cautions against a prognosis of a dual sensory loss in deaf children found to be homozygous for hypomorphic mutations at the USH1F locus.

  11. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

    Directory of Open Access Journals (Sweden)

    Shotland Lawrence I

    2004-09-01

    Full Text Available Abstract Background Mutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10. TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In this study, we searched for mutant alleles of TMPRSS3 in families from Pakistan and Newfoundland with recessive deafness co-segregating with DFNB8/B10 linked haplotypes and also more thoroughly characterized the genomic structure of TMPRSS3. Methods We enrolled families segregating recessive hearing loss from Pakistan and Newfoundland. Microsatellite markers flanking the TMPRSS3 locus were used for linkage analysis. DNA samples from participating individuals were sequenced for TMPRSS3. The structure of TMPRSS3 was characterized bioinformatically and experimentally by sequencing novel cDNA clones of TMPRSS3. Results We identified mutations in TMPRSS3 in four Pakistani families with recessive, nonsyndromic congenital deafness. We also identified two recessive mutations, one of which is novel, of TMPRSS3 segregating in a six-generation extended family from Newfoundland. The spectrum of TMPRSS3 mutations is reviewed in the context of a genotype-phenotype correlation. Our study also revealed a longer isoform of TMPRSS3 with a hitherto unidentified exon encoding a signal peptide, which is expressed in several tissues. Conclusion Mutations of TMPRSS3 contribute to hearing loss in many communities worldwide and account for 1.8% (8 of 449 of Pakistani families segregating congenital deafness as an autosomal recessive trait. The newly identified TMPRSS3 isoform e will be helpful in the functional characterization of the full length protein.

  12. Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?

    Directory of Open Access Journals (Sweden)

    Manuel Schiff

    Full Text Available BACKGROUND: In the investigation of autism spectrum disorders (ASD, a genetic cause is found in approximately 10-20%. Among these cases, the prevalence of the rare inherited metabolic disorders (IMD is unknown and poorly evaluated. An IMD responsible for ASD is usually identified by the associated clinical phenotype such as dysmorphic features, ataxia, microcephaly, epilepsy, and severe intellectual disability (ID. In rare cases, however, ASD may be considered as nonsyndromic at the onset of a related IMD. OBJECTIVES: To evaluate the utility of routine metabolic investigations in nonsyndromic ASD. PATIENTS AND METHODS: We retrospectively analyzed the results of a metabolic workup (urinary mucopolysaccharides, urinary purines and pyrimidines, urinary creatine and guanidinoacetate, urinary organic acids, plasma and urinary amino acids routinely performed in 274 nonsyndromic ASD children. RESULTS: The metabolic parameters were in the normal range for all but 2 patients: one with unspecific creatine urinary excretion and the other with persistent 3-methylglutaconic aciduria. CONCLUSIONS: These data provide the largest ever reported cohort of ASD patients for whom a systematic metabolic workup has been performed; they suggest that such a routine metabolic screening does not contribute to the causative diagnosis of nonsyndromic ASD. They also emphasize that the prevalence of screened IMD in nonsyndromic ASD is probably not higher than in the general population (<0.5%. A careful clinical evaluation is probably more reasonable and of better medical practice than a costly systematic workup.

  13. Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.

    Science.gov (United States)

    Schulze, Andreas; Bauman, Margaret; Tsai, Anne Chun-Hui; Reynolds, Ann; Roberts, Wendy; Anagnostou, Evdokia; Cameron, Jessie; Nozzolillo, Alixandra A; Chen, Shiyi; Kyriakopoulou, Lianna; Scherer, Stephen W; Loh, Alvin

    2016-01-01

    Creatine deficiency may play a role in the neurobiology of autism and may represent a treatable cause of autism. The goal of the study was to ascertain the prevalence of creatine deficiency syndromes (CDSs) in children with autism spectrum disorder (ASD). In a prospective multicenter study, 443 children were investigated after a confirmed diagnosis of ASD. Random spot urine screening for creatine metabolites (creatine, guanidinoacetate, creatinine, and arginine) with liquid chromatography-tandem mass spectrometry and second-tier testing with high-performance liquid chromatography methodology was followed by recall testing in 24-hour urines and confirmatory testing by Sanger-based DNA sequencing of GAMT, GATM, and SLC6A8 genes. Additional diagnostic tests included plasma creatine metabolites and in vivo brain proton magnetic resonance spectroscopy. The creatine metabolites in spot urine in the autism group were compared with 128 healthy controls controlled for age. In 443 subjects with ASD investigated for CDS, we had 0 events (event: 0, 95% confidence interval 0-0.0068), therefore with 95% confidence the prevalence of CDS is creatine metabolites (P > .0125) in urine. Our study revealed a very low prevalence of CDS in children with nonsyndromic ASD and no obvious association between creatine metabolites and autism. Unlike our study population, we expect more frequent CDS among children with severe developmental delay, speech impairment, seizures, and movement disorders in addition to impairments in social communication, restricted interests, and repetitive behaviors. Copyright © 2016 by the American Academy of Pediatrics.

  14. Electrophysiological assessment of auditory processing disorder in children with non-syndromic cleft lip and/or palate.

    Science.gov (United States)

    Ma, Xiaoran; McPherson, Bradley; Ma, Lian

    2016-01-01

    Cleft lip and/or palate is a common congenital craniofacial malformation found worldwide. A frequently associated disorder is conductive hearing loss, and this disorder has been thoroughly investigated in children with non-syndromic cleft lip and/or palate (NSCL/P). However, analysis of auditory processing function is rarely reported for this population, although this issue should not be ignored since abnormal auditory cortical structures have been found in populations with cleft disorders. The present study utilized electrophysiological tests to assess the auditory status of a large group of children with NSCL/P, and investigated whether this group had less robust central auditory processing abilities compared to craniofacially normal children. 146 children with NSCL/P who had normal peripheral hearing thresholds, and 60 craniofacially normal children aged from 6 to 15 years, were recruited. Electrophysiological tests, including auditory brainstem response (ABR), P1-N1-P2 complex, and P300 component recording, were conducted. ABR and N1 wave latencies were significantly prolonged in children with NSCL/P. An atypical developmental trend was found for long latency potentials in children with cleft compared to control group children. Children with unilateral cleft lip and palate showed a greater level of abnormal results compared with other cleft subgroups, whereas the cleft lip subgroup had the most robust responses for all tests. Children with NSCL/P may have slower than normal neural transmission times between the peripheral auditory nerve and brainstem. Possible delayed development of myelination and synaptogenesis may also influence auditory processing function in this population. Present research outcomes were consistent with previous, smaller sample size, electrophysiological studies on infants and children with cleft lip/palate disorders. In view of the these findings, and reports of educational disadvantage associated with cleft disorders, further research

  15. Hearing outcomes in patients with cleft lip/palate.

    Science.gov (United States)

    Skuladottir, Hildur; Sivertsen, Ase; Assmus, Jorg; Remme, Asa Rommetveit; Dahlen, Marianne; Vindenes, Hallvard

    2015-03-01

    Objective : Children with cleft lip and palate or cleft palate only have a high incidence of conductive hearing loss from otitis media with effusion. Studies demonstrating longitudinal results are lacking. This study was undertaken to investigate long-term longitudinal hearing outcomes of children with cleft lip and/or cleft palate and cleft palate only. Design : Retrospective chart review. Setting : Clinical charts of patients born with cleft lip and palate or cleft palate only in 1985 to 1994 who were referred to the cleft team in Bergen, Norway. Study findings include 15 years of follow-up. Participants : The study population consisted of 317 children of whom 159 had nonsyndromic cleft lip and palate and 158 had nonsyndromic cleft palate. Main Outcome Measures : Pure tone average calculated from pure tone audiometry at ages 4, 6, and 15 years. Results : The median pure tone average significantly improved with increasing age. For the cleft lip and palate group, the median pure tone average at ages 4, 6, and 15 years was 16 dB hearing level (HL), 13 dB HL, and 9 dB HL, respectively (P ≤ .001). In the cleft palate group the median pure tone average at ages 4, 6, and 15 years was 15 dB HL, 12 dB HL, and 9 dB HL, respectively (P ≤ .001). There was no significant difference in the hearing levels between the two groups. Patients who had surgical closure of the palate at age 18 months had a significantly better pure tone average outcome at age 15 compared with patients who had surgery at 12 months. Conclusions : Hearing improves significantly from childhood to adolescence in patients with cleft lip and palate and cleft palate only.

  16. Do Hearing Protectors Protect Hearing?

    Science.gov (United States)

    Groenewold, Matthew R.; Masterson, Elizabeth A.; Themann, Christa L.; Davis, Rickie R.

    2015-01-01

    Background We examined the association between self-reported hearing protection use at work and incidence of hearing shifts over a 5-year period. Methods Audiometric data from 19,911 workers were analyzed. Two hearing shift measures—OSHA standard threshold shift (OSTS) and high-frequency threshold shift (HFTS)—were used to identify incident shifts in hearing between workers’ 2005 and 2009 audiograms. Adjusted odds ratios were generated using multivariable logistic regression with multi-level modeling. Results The odds ratio for hearing shift for workers who reported never versus always wearing hearing protection was nonsignificant for OSTS (OR 1.23, 95% CI 0.92–1.64) and marginally significant for HFTS (OR 1.26, 95% CI 1.00–1.59). A significant linear trend towards increased risk of HFTS with decreased use of hearing protection was observed (P = 0.02). Conclusion The study raises concern about the effectiveness of hearing protection as a substitute for noise control to prevent noise-induced hearing loss in the workplace. Am. J. Ind. Med. 57:1001–1010, 2014. Published 2014. This article is a U.S. Government work and is in the public domain in the USA. PMID:24700499

  17. Newborn hearing screening and strategy for early detection of hearing loss in infants.

    Science.gov (United States)

    Jakubíková, Janka; Kabátová, Zuzana; Pavlovcinová, Gabriela; Profant, Milan

    2009-04-01

    More than 80% of permanent hearing losses (HL) in children are congenital. Newborn hearing screening (NHS) is the best method for early detection of suspected hearing loss. If the NHS is not universal more than 30% permanent hearing losses are not identified. There are various methods of NHS: otoacoustic emissions (TEOAE, DPOAE) and automatic auditory brainstem response (AABR). After hearing screening, and when hearing loss is suspected, tympanometry and audiological methods then used for determination of hearing threshold; these include ABR, ASSR or/and behavioral methods. The goal of this study is to evaluate the influence of UNHS on the early detection of hearing loss in children before and after the implementation of obligatory universal newborn hearing screening in Slovakia, and also on the etiologic evaluation of hearing impaired infants identified by screening. In Slovakia NHS started in 1998 and was provided in ENT departments. From May 1, 2006 UNHS has been mandatory in Slovakia, using two stages TEOAE in all newborn departments in Slovakia (64 newborn departments). In year 2005--42% of newborns in Slovakia were screened, in 2006--66% newborns and in 2007--94, 99% (three small newborn departments do not yet have equipment for OAE screening). For determination of hearing thresholds ASSR are used in two ENT departments and ABR in the other four ENT departments. Comparing the number of identified cases with bilateral severe permanent HL or deafness before and after UNHS, 22.8% more cases of PHL were identified in the first year of UNHS. Also the average age of diagnosis of PHL was lower. In the year 2007, 94% of newborns were screened. We found 0.947/1000 newborns with bilateral severe PHL (35.9%) more than before UNHS). After audiologic and etiologic assessment of the 76 infants who failed screening, 5 (6.58%) were found to have normal hearing, 16 (22.54%) had unilateral and 55 (77.46%) had bilateral SNHL. A non-syndromic genetic cause was present in 25

  18. Hearing Impairment

    Science.gov (United States)

    ... Ear Hears Think about how you can feel speakers vibrate on your sound system or feel your throat vibrate when you speak. Sound, which is made up of invisible waves of energy, causes these vibrations. Hearing begins when sound waves that travel through ...

  19. Lungfish Hearing

    DEFF Research Database (Denmark)

    Christensen, Christian Bech; Madsen, Peter Teglberg; Christensen-Dalsgaard, Jakob

    Recent research has shown that tympanic middle ears evolved independently in the major vertebrate groups and represent independent experiments in terrestrial hearing. Furthermore, the tympanic ear emerged quite late – ap - proximately 120 mya after the origin of the tetrapods and approximately 70...... my after the first truly terrestrial tetrapods emerged. One of the major challenges is to understand the transitional stages from tetrapod ancestors to the tympanic tetrapod ear, for example how a non-tympanic ear functions in terrestrial hearing. Lungfish are the closest living relatives...... and urodeles. Based on ABR and vibration measurements also on amphib - ians, lizards, snakes and alligators we can outline scenarios for the initial adaptations of the middle ear to non-tympanic hearing and assess the selection pressures later adapting the middle ear for tympanic hearing. Hearing by bone...

  20. A rare nonsyndromic presentation of bilateral doughnut shaped lip pits in an Indian child

    Directory of Open Access Journals (Sweden)

    Senthil Balasubramani

    2016-01-01

    Full Text Available Lip pits are a rare congenital anomaly that presents on the upper or lower lip or the commissure of the lips. Lip pits are an autosomal dominant trait occurring almost always in association with cleft lip or palate. They most commonly occur in association with developmental disturbances such as Van der Woude's syndrome, popliteal pterygium syndrome, oro-facial-digital syndrome, Marres-Cremers syndrome, and Hirschsprung disease. Its occurrence in nonsyndromic individuals is extremely rare with only a handful of cases reported. The identification of lip pits with other associated anomalies is crucial for genetic counseling; we report a case of nonsyndromic presentation of bilateral lip pits.

  1. Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting.

    Science.gov (United States)

    Howe, B J; Cooper, M E; Vieira, A R; Weinberg, S M; Resick, J M; Nidey, N L; Wehby, G L; Marazita, M L; Moreno Uribe, L M

    2015-07-01

    Children with oral clefts show a wide range of dental anomalies, adding complexity to understanding the phenotypic spectrum of orofacial clefting. The evidence is mixed, however, on whether the prevalence of dental anomalies is elevated in unaffected relatives and is mostly based on small samples. In the largest international cohort to date of children with nonsyndromic clefts, their relatives, and controls, this study characterizes the spectrum of cleft-related dental anomalies and evaluates whether families with clefting have a significantly higher risk for such anomalies compared with the general population. A total of 3,811 individuals were included: 660 cases with clefts, 1,922 unaffected relatives, and 1,229 controls. Dental anomalies were identified from in-person dental exams or intraoral photographs, and case-control differences were tested using χ(2) statistics. Cases had higher rates of dental anomalies in the maxillary arch than did controls for primary (21% vs. 4%, P = 3 × 10(-8)) and permanent dentitions (51% vs. 8%, P = 4 × 10(-62)) but not in the mandible. Dental anomalies were more prevalent in cleft lip with cleft palate than other cleft types. More anomalies were seen in the ipsilateral side of the cleft. Agenesis and tooth displacements were the most common dental anomalies found in case probands for primary and permanent dentitions. Compared with controls, unaffected siblings (10% vs. 2%, P = 0.003) and parents (13% vs. 7%, P = 0.001) showed a trend for increased anomalies of the maxillary permanent dentition. Yet, these differences were nonsignificant after multiple-testing correction, suggesting genetic heterogeneity in some families carrying susceptibility to both overt clefts and dental anomalies. Collectively, the findings suggest that most affected families do not have higher genetic risk for dental anomalies than the general population and that the higher prevalence of anomalies in cases is primarily a physical consequence of the

  2. "Quality of Life in Adults with Non-Syndromic Craniosynostosis".

    Science.gov (United States)

    Mazzaferro, Daniel M; Naran, Sanjay; Wes, Ari M; Magee, Leanne; Taylor, Jesse A; Bartlett, Scott P

    2018-03-19

    While studies have analyzed quality of life (QOL) in children with non-syndromic craniosynostosis (NSC), to date nobody has investigated long-term QOL in adults with NSC. The purpose of this study is to compare QOL in adult NSC patients with a cohort of unaffected controls. We queried our institution's prospectively maintained craniofacial registry for NSC patients 18 years and older, and administered the validated World Health Organization Quality of Life (WHOQOL-BREF) questionnaire. Responses were compared, using a two-sample t-test, to an age-matched, United States, normative database provided by the World Health Organization (WHO). 151 adults met inclusion criteria: 52 were successfully contacted and 32 completed the WHOQOL-BREF. Average age of respondents was 23.0±6.1 years old (range, 18.1 to 42.1). 12 subjects had metopic synostosis, 15 had unicoronal, and 5 had sagittal. NSC patients had a superior quality of life compared to comparative norms in all domains: physical health (17.8±2.7 vs. 15.5±3.2, p0.05), while all individual subtypes maintained superior or equivalent QOL relative to controls. Demographic variables, Whitaker score, and number of surgical interventions did not correlate with differences in QOL. Adult patients previously treated for NSC perceive their quality of life to be high, superior to that of a normative United States sample. Future work will seek to analyze additional patients and better understand the reasons behind these findings.

  3. Detection of high-risk subtypes of human papillomavirus in cervical swabs: routine use of the Digene Hybrid Capture assay and polymerase chain reaction analysis.

    LENUS (Irish Health Repository)

    Brennan, M M

    2012-02-03

    Human papillomaviruses (HPVs) are major causative agents in the pathogenesis of cervical cancer, and more than twenty types are associated with its development. With the introduction of liquid-based preparation systems, it is envisaged that large-scale HPV testing will be established in the near future. Preliminary studies demonstrate the accessibility of these samples for DNA testing using both the Digene Hybrid Capture assay (DHCA) and polymerase chain reaction (PCR) techniques. This study aims to assess the validity and sensitivity of the DHCA system to detect high-risk HPV DNA, using two sets of HPV consensus primers (Gp5+\\/Gp6+ and MY09\\/MY11) in tandem with routine assessment of cervical smear and biopsy samples. Results indicate that the combination of DHCA and PCR detects more high-grade lesions than does the DHCA alone. DHCA-negative cases were categorised by subsequent PCR amplification into low-grade HPV-negative (12\\/16) cervical lesions and high-grade HPV-positive (7\\/9) cervical lesions. Gp5+\\/Gp6+ primers were less sensitive in detecting HPV-positive samples than was the MY09\\/MY11 primer set. These results support the use of high-risk HPV testing by DHCA, with subsequent analysis of DHCA-negative samples by PCR using the MY09\\/MY11 primers.

  4. A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II.

    Science.gov (United States)

    Yan, Xukun; Zhang, Tianyu; Wang, Zhengmin; Jiang, Yi; Chen, Yan; Wang, Hongyan; Ma, Duan; Wang, Lei; Li, Huawei

    2011-12-20

    Waardenburg syndrome type II (WS2) is associated with syndromic deafness. A subset of WS2, WS2A, accounting for approximately 15% of patients, is attributed to mutations in the microphthalmia-associated transcription factor (MITF) gene. We examined the genetic basis of WS2 in a large Chinese family. All 9 exons of the MITF gene, the single coding exon (exon 2) of the most common hereditary deafness gene GJB2 and the mitochondrial DNA (mtDNA) 12S rRNA were sequenced. A novel heterozygous mutation c.[742_743delAAinsT;746_747delCA] in exon 8 of the MITF gene co-segregates with WS2 in the family. The MITF mutation results in a premature termination codon and a truncated MITF protein with only 247 of the 419 wild type amino acids. The deaf proband had this MITF gene heterozygous mutation as well as a c.[109G>A]+[235delC] compound heterozygous pathogenic mutation in the GJB2 gene. No pathogenic mutation was found in mtDNA 12S rRNA in this family. Thus, a novel compound heterozygous mutation, c.[742_743delAAinsT;746_747delCA] in MITF exon 8 was the key genetic reason for WS2 in this family, and a digenic effect of MITF and GJB2 genes may contribute to deafness of the proband. Copyright © 2011. Published by Elsevier Ltd.

  5. Genetic Linkage Analysis of DFNB2 Locus with Autosomal Recessive Hearing Loss in Families Negative for GJB2 Mutations in Khuzestan Province

    Directory of Open Access Journals (Sweden)

    Parisa Tahmasebi

    2016-09-01

    Full Text Available Abstract Background: Hearing loss is a common sensory impairment in humans which half of its causes are genetic reasons. Genetic hearing loss can be divided into the two types of syndromic and non-syndromic, which 80% of non-syndromic cases is Autosomal Recessive Non-Syndromic Hearing Loss. The aim of the present research is to determine the contribution of DFNB2 locus (MYO7A gene in causing an autosomal recessive hearing loss in the one group of the deaf families of Khuzestan province. Materials and Methods: This study was conducted on 26 families with autosomal recessive hearing loss (with 4 patients and negative for GJB2 mutations in Khuzestan province. 22 families suffered from ARNSHL and 4 families suffered from Usher syndrome. Linkage analysis was performed by using STR (Short Tandem Repeat markers related to DFNB2 locus. Each family’s genotype was determined by PCR-PAGE method. Furthermore, haplotypes drawing and LOD score calculations were performed. Results: From 26 families with hearing loss participating in this research, following genetic linkage analysis and haplotypes drawing, two families (7.7% of the families showed linkage to DFNB2 locus. One family (4.5% suffered from ARNSHL and another family suffered from Usher syndrome. Conclusion: The results of the present research show that the contribution of DFNB2 locus in causing hearing loss in the population of Khuzestan province was similar to other studies conducted in Iran and this locus with other important loci should be considered to check in the hearing loss panel.

  6. Hearing Aids

    Science.gov (United States)

    ... listen to TV or your music player, play videogames, or use your phone. Talk to your audiologist ... your audiologist several times, but it's worth the benefit of being able to hear your friends and ...

  7. The need for orthognathic surgery in nonsyndromic patients with repaired isolated cleft palate.

    Science.gov (United States)

    Antonarakis, Gregory S; Watts, Guy; Daskalogiannakis, John

    2015-01-01

    To determine the frequency of need for orthognathic surgery among nonsyndromic patients with isolated cleft palate repaired during infancy at The Hospital for Sick Children in Toronto, Canada. Retrospective cohort study. PATIENTS with nonsyndromic isolated cleft palate born between 1970 and 1997 with available records including a lateral cephalometric radiograph taken at ≥15 years of age. PATIENTS who had undergone or were being prepared for orthognathic surgery were automatically counted as requiring surgery. For the remaining patients, lateral cephalometric radiographs were traced and analyzed. Arbitrarily set cephalometric criteria were used to identify the "objective" need for orthognathic surgery. Of the 189 patients identified with nonsyndromic isolated cleft palate and for whom records were available, 25 (13.2%) were deemed to require orthognathic surgery. Of the surgical cohort, 92% required surgical correction for a Class III malocclusion. Similar percentages of males and females required orthognathic surgery. An apparently greater proportion of patients of Asian background (18.5%) than of white background (10.6%) required surgery, but this difference was not significant (P = .205). The current results suggest that approximately one in eight patients at our institution with nonsyndromic isolated cleft palate requires orthognathic surgery. There is a tendency for this to be higher in patients of Asian descent and lower in patients of white descent. Variability in extent, severity, and phenotype of the cleft, which may be attributed largely to genetics, may play an important role in dictating the need for orthognathic surgery.

  8. Lower incidence of nonsyndromic cleft lip with or without cleft palate ...

    Indian Academy of Sciences (India)

    2016-08-26

    Aug 26, 2016 ... In India, as in other parts of the world, nonsyndromic cleft lip with or without cleft palate (NSCL±P) is a highly prevalent birth defect, its incidence in males being twice that in females. A case–control association study has been carried out with respect to homocysteine level and MTHFR C677T, A1298C and ...

  9. Association of MEOX2 polymorphism with nonsyndromic cleft palate only in a Vietnamese population.

    Science.gov (United States)

    Tran, Duy L; Imura, Hideto; Mori, Akihiro; Suzuki, Satoshi; Niimi, Teruyuki; Ono, Maya; Sakuma, Chisato; Nakahara, Shinichi; Nguyen, Tham T H; Pham, Phuong T; Hoang, Viet; Tran, Van T T; Nguyen, Minh D; Natsume, Nagato

    2017-10-14

    To evaluate the association between the single nucleotide polymorphism (SNP) rs227493 in the MEOX2 gene and nonsyndromic cleft palate only, this research was conducted as a case-control study by comparing a nonsyndromic cleft palate only group with an independent, healthy, and unaffected control group who were both examined by specialists. Based on clinical examination and medical records, we analyzed a total of 570 DNA samples, including 277 cases and 293 controls, which were extracted from dry blood spot samples collected from both the Odonto and Maxillofacial Hospital in Ho Chi Minh City and Nguyen Dinh Chieu Hospital in Ben Tre province, respectively. The standard procedures of genotyping the specific SNP (rs2237493) for MEOX2 were performed on a StepOne Realtime PCR system with TaqMan SNP Genotyping Assays. Significant statistical differences were observed in allelic frequencies (allele T and allele G) between the non-syndromic cleft palate only and control groups in female subjects, with an allelic odds ratio of 1.455 (95% confidence interval: 1.026-2.064) and P < 0.05. These study findings suggest that nonsyndromic isolated cleft palate might be influenced by variation of MEOX2, especially SNP rs2237493 in Vietnamese females. © 2017 Japanese Teratology Society.

  10. Genetic Linkage Analysis of the DFNB21 Locus in Autosomal Recessive Hearing Loss in Large Families from Khuzestan Province

    Directory of Open Access Journals (Sweden)

    Mahtab Khosrofar

    2017-06-01

    Full Text Available Abstract Background: Hearing loss (HL is the most common congenital defect in humans. One or two in thousand newborn babies have prelingual hearing loss. Autosomal recessive non-syndromic hearing loss (ARNSHL is the most common form of hereditary deafness. Hearing loss is more common in the developing countries which is due to genetic and environmental (cultural -health factors reasons. HL has a wide range of clinical demonstrations including: congenital or late onset, conductive or sensory-neural, syndromic or non-syndromic hearing loss. The goal of this project is to determine the portion of the DFNB21 (TECTA in ARNSHL in families with negative GJB2 gene in Khuzestan province. Materials and Methods: We studied 21 families with ARNSHL with at least 4 patients and negative for GJB2 mutations from Khuzestan province. Genetic linkage analysis was performed using STR markers linked to DFNB21 locus. Results: Following genetic linkage analysis and haplotyping, out of 21 families with ARNSHL, one family showed linkage to the DFNB21 (TECTA locus. Conclusion: The results of this project confirm other studies in Iran and give insight into the most common loci causing ARNSHL in Iran which could be helpful in research and clinic.

  11. Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.

    Science.gov (United States)

    van Beelen, Eline; Oonk, Anne M M; Leijendeckers, Joop M; Hoefsloot, Elisabeth H; Pennings, Ronald J E; Feenstra, Ilse; Dieker, Hendrik-Jan; Huygen, Patrick L M; Snik, Ad F M; Kremer, Hannie; Kunst, Henricus P M

    2016-01-01

    Mutations in EYA4 can cause nonsyndromic autosomal dominant sensorineural hearing impairment (DFNA10) or a syndromic variant with hearing impairment and dilated cardiomyopathy. A mutation in EYA4 was found in a Dutch family, causing DFNA10. This study is focused on characterizing the hearing impairment in this family. Whole exome sequencing was performed in the proband. In addition, peripheral blood samples were collected from 23 family members, and segregation analyses were performed. All participants underwent otorhinolaryngological examinations and pure-tone audiometry, and 12 participants underwent speech audiometry. In addition, an extended set of audiometric measurements was performed in five family members to evaluate the functional status of the cochlea. Vestibular testing was performed in three family members. Two individuals underwent echocardiography to evaluate the nonsyndromic phenotype. The authors present a Dutch family with a truncating mutation in EYA4 causing a mid-frequency hearing impairment. This mutation (c.464del) leads to a frameshift and a premature stop codon (p.Pro155fsX). This mutation is the most N-terminal mutation in EYA4 found to date. In addition, a missense mutation, predicted to be deleterious, was found in EYA4 in two family members. Echocardiography in two family members revealed no signs of dilated cardiomyopathy. Results of caloric and velocity step tests in three family members showed no abnormalities. Hearing impairment was found to be symmetric and progressive, beginning as a mid-frequency hearing impairment in childhood and developing into a high-frequency, moderate hearing impairment later in life. Furthermore, an extended set of audiometric measurements was performed in five family members. The results were comparable to those obtained in patients with other sensory types of hearing impairments, such as patients with Usher syndrome type IIA and presbyacusis, and not to those obtained in patients with (cochlear

  12. Nonsyndromic cleft lip and palate: No evidence of linkage to HLA or factor 13A

    Energy Technology Data Exchange (ETDEWEB)

    Hecht, J.T.; Yaping Wang; Connor, B.; Daiger, S.P. (Univ. of Texas, Houston (United States)); Blanton, S.H. (Univ. of Texas, Houston (United States) Univ. of Virginia, Charlottesville (United States))

    1993-06-01

    Nonsyndromic cleft lip with or without cleft palate (CLP) is a common craniofacial anomaly, the etiology of which is not known. Population studies have shown that a large proportion of cases occur sporadically. Recently, segregation analyses applied to CLP families have demonstrated that an autosomal dominant/codominant gene(s) may cause clefting in cases. Associations of autosomal dominant CLP and nonsyndromic cleft palate (CP) with HLA and F13A genes on chromosome 6p have been suggested previously. Linkage to these two areas on chromosome 6p were tested in 12 autosomal dominant families with CLP. With a LOD score of [minus]2 or less for exclusion, no evidence of linkage was found to four chromosome 6p markers. Multipoint analysis showed no evidence of a clefting locus in this region spanning 54 cM on chromosome 6p in these CLP families. 30 refs., 2 figs., 1 tab.

  13. Association of single nucleotide polymorphisms in WNT genes with the risk of nonsyndromic cleft lip with or without cleft palate.

    Science.gov (United States)

    Rafighdoost, Houshang; Hashemi, Mohammad; Asadi, Hossein; Bahari, Gholamreza

    2018-01-22

    Nonsyndromic cleft lip with or without cleft palate is a common congenital deformity worldwide with multifaceted etiology. Interaction of genes and environmental factors has been indicated to be related with susceptibility to nonsyndromic cleft lip with or without cleft palate. Some WNT genes which are involved in craniofacial embryogenesis may play a key role in the pathogenesis of nonsyndromic cleft lip with or without cleft palate. In the present study, we aimed to inspect the relationship between WNT3 (rs3809857 and rs9890413), WNT3A (rs752107 and rs3121310), and WNT10a rs201002930 (c.392 C>T) polymorphisms and nonsyndromic cleft lip with or without cleft palate in an Iranian population. The present case-control study was carried out on 120 unrelated nonsyndromic cleft lip with or without cleft palate patients and 112 healthy subjects. The variants were genotyped by polymerase chain reaction-restriction fragment length polymorphism method. The findings suggest that the rs3809857 polymorphism significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.16, 95% confidence interval = 0.03-0.75, P = 0.020, TT vs GG), recessive (odds ratio = 0.16, 95% confidence interval = 0.03-0.72, P = 0.009, TT vs GG + GT) inheritance models. The rs9890413 variant marginally decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.41, 95% confidence interval = 0.17-0.99, P = 0.047, AG vs AA) model. Regarding C392T variant, the findings revealed that this variant significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.24, 95% confidence interval = 0.10-0.58, P = 0.002, CT vs CC) and allele (odds ratio = 0.26, 95% confidence interval = 0.11-0.62, P = 0.002, T vs C) models. No significant association was observed between the rs752107 and rs3121310 variants

  14. Phenotypic discordance in a family with monozygotic twins and non-syndromic cleft lip and palate

    Energy Technology Data Exchange (ETDEWEB)

    Wyszynski, D.F. [Johns Hopkins Univ., Baltimore, MD (United States)]|[National Center for Human Genome Research, Bethesda, MD (United States); Lewanda, A.F. [Johnson Hopkins Hospital, Baltimore, MD (United States)]|[Children`s National Medical Center, Washington, DC (United States); Beaty, T.H. [Johns Hopkins Univ., Balitomre, MD (United States)

    1996-12-30

    Despite considerable research, the cause of non-syndromic cleft lip with or without cleft palate (NSCLP) is still an enigma. Case-control and cohort studies have searched for environmental factors that might influence the development of this common malformation, such as maternal cigarette smoking, periconceptional supplementation of folic acid and multivitamins, agricultural chemical use, and place of residence, among others. However, these studies are subject to numerous biases, and their results have often been contradictory and inconclusive. 41 refs., 1 fig.

  15. Modeling the autistic cell: iPSCs recapitulate developmental principles of syndromic and nonsyndromic ASD.

    Science.gov (United States)

    Ben-Reuven, Lihi; Reiner, Orly

    2016-06-01

    The opportunity to model autism spectrum disorders (ASD) through generation of patient-derived induced pluripotent stem cells (iPSCs) is currently an emerging topic. Wide-scale research of altered brain circuits in syndromic ASD, including Rett Syndrome, Fragile X Syndrome, Angelman's Syndrome and sporadic Schizophrenia, was made possible through animal models. However, possibly due to species differences, and to the possible contribution of epigenetics in the pathophysiology of these diseases, animal models fail to recapitulate many aspects of ASD. With the advent of iPSCs technology, 3D cultures of patient-derived cells are being used to study complex neuronal phenotypes, including both syndromic and nonsyndromic ASD. Here, we review recent advances in using iPSCs to study various aspects of the ASD neuropathology, with emphasis on the efforts to create in vitro model systems for syndromic and nonsyndromic ASD. We summarize the main cellular activity phenotypes and aberrant genetic interaction networks that were found in iPSC-derived neurons of syndromic and nonsyndromic autistic patients. © 2016 Japanese Society of Developmental Biologists.

  16. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

    Science.gov (United States)

    Ahmed, Zubair M; Smith, Tenesha N; Riazuddin, Saima; Makishima, Tomoko; Ghosh, Manju; Bokhari, Sirosh; Menon, Puthezhath S N; Deshmukh, Dilip; Griffith, Andrew J; Riazuddin, Sheikh; Friedman, Thomas B; Wilcox, Edward R

    2002-06-01

    Human chromosome 11 harbors two Usher type I loci, USHIB and USHIC, which encode myosin VIIA and harmonin, respectively. The USHIC locus overlaps the reported critical interval for nonsyndromic deafness locus DFNB18. We found an IVS12+5G-->C mutation in the USHIC gene, which is associated with nonsyndromic recessive deafness ( DFNB18) segregating in the original family, S-11/12. No other disease-associated mutation was found in the other 27 exons or in the intron-exon boundaries, and the IVS12+5G-->C mutation was not present in 200 representative unaffected individuals ascertained from the same area of India. An exon-trapping assay with a construct harboring IVS12+5G-->C generated wildtype spliced mRNA having exons 11 and 12 and mRNA that skipped exon 12. We conclude that mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18.

  17. Measurements on Hearing

    DEFF Research Database (Denmark)

    Poulsen, Torben

    1996-01-01

    Background material for measurements of hearing for grammar school pupils. The note gives the necessary background for the exercise 'Measurement on Hearing'. The topics comprise sound and decibel, the ear, basic psychoacoustics, hearing threshold, audiometric measurement methods, speech and speech...

  18. Hearing Disorders and Deafness

    Science.gov (United States)

    ... enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to ... often be helped. Deafness can keep you from hearing sound at all. What causes hearing loss? Some ...

  19. A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.

    Science.gov (United States)

    Kamada, Fumiaki; Kure, Shigeo; Kudo, Takayuki; Suzuki, Yoichi; Oshima, Takeshi; Ichinohe, Akiko; Kojima, Kanako; Niihori, Tetsuya; Kanno, Junko; Narumi, Yoko; Narisawa, Ayumi; Kato, Kumi; Aoki, Yoko; Ikeda, Katsuhisa; Kobayashi, Toshimitsu; Matsubara, Yoichi

    2006-01-01

    Autosomal-dominant, nonsyndromic hearing impairment is clinically and genetically heterogeneous. We encountered a large Japanese pedigree in which nonsyndromic hearing loss was inherited in an autosomal-dominant fashion. A genome-wide linkage study indicated linkage to the DFNA2 locus on chromosome 1p34. Mutational analysis of KCNQ4 encoding a potassium channel revealed a novel one-base deletion in exon 1, c.211delC, which generated a profoundly truncated protein without transmembrane domains (p.Q71fsX138). Previously, six missense mutations and one 13-base deletion, c.211_223del, had been reported in KCNQ4. Patients with the KCNQ4 missense mutations had younger-onset and more profound hearing loss than patients with the 211_223del mutation. In our current study, 12 individuals with the c.211delC mutation manifested late-onset and pure high-frequency hearing loss. Our results support the genotype-phenotype correlation that the KCNQ4 deletions are associated with later-onset and milder hearing impairment than the missense mutations. The phenotypic difference may be caused by the difference in pathogenic mechanisms: haploinsufficiency in deletions and dominant-negative effect in missense mutations.

  20. Hearing: Noise-Induced Hearing Loss

    Science.gov (United States)

    ... reduce your exposure to noise by choosing quiet leisure activities rather than noisy ones. Develop the habit ... the degree of your hearing loss, you may benefit from using a hearing aid (a device you ...

  1. A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Liu, Huan; Carlson, Jenna C

    2016-01-01

    Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP h...

  2. Can Baby Hear?

    Science.gov (United States)

    ... born in the United States are deaf or hard-of-hearing. Research shows that early intervention with hearing devices and educational services can help children with hearing loss to develop language skills at the same rate as their hearing peers. ...

  3. Hard of Hearing?

    DEFF Research Database (Denmark)

    T Christensen, Vibeke

    This summary presents the results of a study of the impact of reduced hearing in relation to labour-market attachment and working life. Reduced hearing contributes to early retirement. Many people with impaired hearing are not aware of the impact of their hearing problems on their working life an...

  4. Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate - A Danish registry study

    Energy Technology Data Exchange (ETDEWEB)

    Christensen, K. [Aarhus Univ. (Denmark)]|[Odense Univ. Medical School (Denmark); Mitchell, L.E. [Aarhus Univ. (Denmark)]|[St. Louis Univ. School of Public Health, MO (United States)

    1996-01-01

    The finding of an association between genetic variation at the transforming growth-factor alpha (TGFA) locus and nonsyndromic isolated cleft palate (CP) represents a potentially important breakthrough in our understanding of this condition. The present study was undertaken to assess the feasibility of detecting linkage to putative CP-susceptibility loci, such as TGFA. To this end, the familial recurrence pattern for CP was evaluated to determine the most likely mode of inheritance for this condition. The study took advantage of the high ascertainment and uniform registration of CP in Denmark. In addition, the study utilized estimates of familial recurrence that were obtained by register linkage and, hence, were not subject to either recall bias or the potentially biasing influence of nonresponders. The recurrence risks for first-, second-, and third-degree relatives of 1,364 nonsyndromic CP probands were estimated to be 2.74% (72/2,628), 0.28% (3/1,068), and 0.00% (0/360), respectively. These estimates are close to published estimates based on questionnaire and interview data. The population prevalence for nonsyndromic CP was, however, found to be considerable higher than usually reported (0.058% [1,456/2,523,023]). Analyses of these and previously published data, using the method presented by Risch, indicated that major-locus or additive multilocus inheritance of CP is unlikely. The familial recurrence pattern was, however, consistent with CP being determined by several interacting loci. Under such a model, a single locus accounting for more than a sixfold increase in the risk to first-degree relatives of CP probands is unlikely, whereas a single locus accounting for a threefold increase provided a good fit to the data. Such a locus could be detected in a realistic sample of affected sib pairs. 26 refs., 3 tabs.

  5. CERN hearing day

    CERN Multimedia

    2005-01-01

    1 in 10 people suffer from hearing loss - do you? The Medical Service invites everyone working on the CERN site to participate in the NATIONAL HEARING DAY on: Thursday 10th March 2005 From 9am to 4pm The Infirmary, Blg. 57, Ground Floor We will be offering hearing tests (audiograms), as well as information and advice on hearing loss, tinnitus, etc. Deafness does not just affect the elderly: in Europe, 50% of the hearing-impaired are under the age of 55. Exposure to excessive noise is one of the main reasons for hearing problems but PREVENTION IS POSSIBLE. For example, hearing protection devices can prevent 80% of tinnitus cases.

  6. CERN hearing day

    CERN Multimedia

    2005-01-01

    1 in 10 people suffer from hearing loss - do you? The Medical Service invites everyone working on CERN premises to participate in the National Hearing Day on: Thursday 10th March From 9am to 4pm The Infirmary, Blg. 57, Gr.Fl. We will be offering hearing tests (audiogram); information, advice on hearing loss, tinnitus and more. Deafness does not just affect the elderly: in Europe, 50% the hearing-impaired are under the age of 55. Exposure to excessive noise is one of the main reasons for hearing loss. But PREVENTION IS POSSIBLE AND EFFECTIVE: for example, Hearing protection devices could reduce tinnitus cases by 80%.

  7. CERN hearing day

    CERN Document Server

    2005-01-01

    1 in 10 people suffer from hearing loss - do you? The Medical Service invites everyone working on CERN premises to participate in the National Hearing Day on: Thursday 10th March From 9am to 4pm The Infirmary, Blg. 57, Gr.Fl. We will be offering hearing tests (audiogram); information, advice on hearing loss, tinnitus and more. Deafness does not just affect the elderly: in Europe, 50% the hearing-impaired are under the age of 55. Exposure to excessive noise is one of the main reasons for hearing loss. But prevention is possible and effective: for example, Hearing protection devices could reduce tinnitus cases by 80%.

  8. CERN hearing day

    CERN Multimedia

    2005-01-01

    1 in 10 people suffer from hearing loss ? do you? The Medical Service invites everyone working on the CERN site to participate in the NATIONAL HEARING DAY on: Thursday 10th March 2005 From 9am to 4pm The Infirmary, Blg. 57, Ground Floor We will be offering hearing tests (audiograms), as well as information and advice on hearing loss, tinnitus, etc. Deafness does not just affect the elderly: in Europe, 50% of the hearing-impaired are under the age of 55. Exposure to excessive noise is one of the main reasons for hearing problems but prevention is possible. For example, hearing protection devices can prevent 80% of tinnitus cases.

  9. The Master Hearing Aid

    Science.gov (United States)

    Curran, James R.

    2013-01-01

    As early as the 1930s the term Master Hearing Aid (MHA) described a device used in the fitting of hearing aids. In their original form, the MHA was a desktop system that allowed for simulated or actual adjustment of hearing aid components that resulted in a changed hearing aid response. Over the years the MHA saw many embodiments and contributed to a number of rationales for the fitting of hearing aids. During these same years, the MHA was viewed by many as an inappropriate means of demonstrating hearing aids; the audio quality of the desktop systems was often superior to the hearing aids themselves. These opinions and the evolution of the MHA have molded the modern perception of hearing aids and the techniques used in the fitting of hearing aids. This article reports on a history of the MHA and its influence on the fitting of hearing aids. PMID:23686682

  10. Multiple keratocystic odontogenic tumors in a non-syndromic minor patient: Report of an unusual case

    Directory of Open Access Journals (Sweden)

    Shalu Rai

    2013-01-01

    Full Text Available Keratocystic odontogenic tumor (KCOT is developmental odontogenic cysts of epithelial origin known for their potentially aggressive behavior and significant rate of recurrences. Single odontogenic cysts are very well documented in the literature. Multiple (KCOT are principle features of nevoid basal cell carcinoma syndrome (naevoid basal cell carcinoma syndrome; Gorlin-Goltz syndrome. We report an intriguing case of multiple KCOT in a non-syndromic patient simultaneously occurring in maxilla as well as in mandible with brief highlight on molecular data and the treatment modality.

  11. Concomitant imaging and genetic findings in children with unilateral sensorineural hearing loss.

    Science.gov (United States)

    Gruber, M; Brown, C; Mahadevan, M; Neeff, M

    2017-08-01

    To describe the concomitant imaging and genetic findings in children diagnosed with non-syndromic unilateral sensorineural hearing loss. A retrospective cohort study was conducted of 60 children diagnosed between January 2005 and December 2015 in a tertiary-level paediatric institution. Average age at diagnosis was 4.3 years. All children were considered non-syndromic. Hearing loss was categorised as mild (17 children), moderate (17 children), severe (7 children) or profound (19 children). Imaging was performed in 43 children (71.66 per cent). Nineteen patients (44.2 per cent) had positive computed tomography or magnetic resonance imaging findings. Genetic testing was performed in 51 children (85 per cent). Sixteen children (31 per cent) tested positive to connexin 26 (GJB2); 1 patient (2 per cent) had a homozygous mutation of GJB2 and 15 were heterozygous carriers. Amongst children who tested positive as heterozygous carriers of a GJB2 mutation, there was a high rate of positive imaging findings (47 per cent compared to 37.2 per cent in the total cohort). A genetic abnormality was confirmed in 50 per cent of children with positive imaging findings who underwent genetic testing. Rates of concomitant imaging and genetic findings suggest that both investigations are of value in the study of these patients.

  12. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

    Science.gov (United States)

    Rivolta, C; Sweklo, E A; Berson, E L; Dryja, T P

    2000-06-01

    Microdeletions Glu767(1-bp del), Thr967(1-bp del), and Leu1446(2-bp del) in the human USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss. Each of these three frameshift mutations is predicted to lead to an unstable mRNA transcript that, if translated, would result in a truncated protein lacking the carboxy terminus. Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin-epidermal growth factor-like domain of the USH2A gene and that is associated with recessive RP without hearing loss. This single mutation was found in 4.5% of 224 patients with recessive RP, suggesting that USH2A could cause more cases of nonsyndromic recessive RP than does any other gene identified to date.

  13. Evaluation of family history of permanent hearing loss in childhood as a risk indicator in universal screening.

    Science.gov (United States)

    Valido Quintana, Mercedes; Oviedo Santos, Ángeles; Borkoski Barreiro, Silvia; Santana Rodríguez, Alfredo; Ramos Macías, Ángel

    Sixty percent of prelingual hearing loss is of genetic origin. A family history of permanent childhood hearing loss is a risk factor. The objective of the study is to determine the relationship between this risk factor and hearing loss. We have evaluated clinical and epidemiological characteristics and related nonsyndromic genetic variation. This was a retrospective, descriptive and observational study of newborns between January 2007 and December 2010 with family history as risk factor for hearing loss using transient evoked otoacoustic emissions and auditory brainstem response. A total of 26,717 children were born. Eight hundred and fifty-seven (3.2%) had family history. Fifty-seven(0.21%) failed to pass the second test. A percentage of 29.1 (n=16) had another risk factor, and 17.8% (n=9) had no classical risk factor. No risk factor was related to the hearing loss except heart disease. Seventy-six point four percent had normal hearing and 23.6% hearing loss. The mean of family members with hearing loss was 1.25. On genetic testing, 82.86% of homozygotes was normal, 11.43% heterozygosity in Connexin 26 gene (35delG), 2.86% R143W heterozygosity in the same gene and 2.86% mutant homozygotes (35delG). We found no relationship between hearing loss and mutated allele. The percentage of children with a family history and hearing loss is higher than expected in the general population. The genetic profile requires updating to clarify the relationship between hearing loss and heart disease, family history and the low prevalence in the mutations analyzed. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

  14. Non-syndromic posterior lenticonus a cause of childhood cataract: evidence for X-linked inheritance.

    Science.gov (United States)

    Russell-Eggitt, I M

    2000-12-01

    When an X-linked pedigree of posterior lenticonus with cataract was identified further evidence for X-linked inheritance of this condition was sought. Forty-three cases of posterior lenticonus were identified from a database of 354 children with cataract. Two children with the X-linked syndromes of Lowe and Nance-Horan and 3 children with Fanconi syndrome have been excluded from further analysis. None of the children was deaf. None of the non-syndromic cases had microcornea. There were 38 cases of non-syndromic posterior lenticonus (approximately 11%). There were 15 children from 13 pedigrees and 23 apparently sporadic cases. Of the 106 cases on the database with unilateral cataract 15 had posterior lenticonus (approximately 14%). Eleven of 13 pedigrees were compatible with X-linked inheritance or autosomal dominant inheritance with variable expression. However, in 2 pedigrees there was father to son transmission. Posterior lenticonus is a common cause of unilateral infantile cataract, but is thought to be a rare cause of bilateral cataracts. This study suggests that posterior lenticonus is responsible for a significant proportion of childhood cataracts (approximately 14% of unilateral and approximately 9% of bilateral cases). Posterior lenticonus is generally thought to occur as a sporadic condition. This study demonstrates that there is a family history of early-onset cataract in a significant number of bilateral cases (approximately 58%).

  15. Candidate gene association studies in syndromic and non-syndromic cleft lip and palate

    Energy Technology Data Exchange (ETDEWEB)

    Daack-Hirsch, S.; Basart, A.; Frischmeyer, P. [Univ. of Iowa, IA (United States)] [and others

    1994-09-01

    Using ongoing case ascertainment through a birth defects registry, we have collected 219 nuclear families with non-syndromic cleft lip and/or palate and 111 families with a collection of syndromic forms. Syndromic cases include 24 with recognized forms and 72 with unrecognized syndromes. Candidate gene studies as well as genome-wide searches for evidence of microdeletions and isodisomy are currently being carried out. Candidate gene association studies, to date, have made use of PCR-based polymorphisms for TGFA, MSX1, CLPG13 (a CA repeat associated with a human homologue of a locus that results in craniofacial dysmorphogenesis in the mouse) and an STRP found in a Van der Woude syndrome microdeletion. Control tetranucleotide repeats, which insure that population-based differences are not responsible for any observed associations, are also tested. Studies of the syndromic cases have included the same list of candidate genes searching for evidence of microdeletions and a genome-wide search using tri- and tetranucleotide polymorphic markers to search for isodisomy or structural rearrangements. Significant associations have previously been identified for TGFA, and, in this report, identified for MSX1 and nonsyndromic cleft palate only (p = 0.04, uncorrected). Preliminary results of the genome-wide scan for isodisomy has returned no true positives and there has been no evidence for microdeletion cases.

  16. Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO)

    Energy Technology Data Exchange (ETDEWEB)

    Shiang, R. (Univ. of California, Irvine, CA (United States)); Lidral, A.C.; Ardinger, H.H.; Murray, J.C.; Romitti, P.A.; Munger, R.G.; Buetow, K.H.

    1993-10-01

    Genetic analysis and tissue-specific expression studies support a role for transforming growth-factor alpha (TGFA) in craniofacial development. Previous studies have confirmed an association of alleles for TGFA with nonsyndromic cleft lip with or without cleft palate (CL/P) in humans. The authors carried out a retrospective association study to determine whether specific allelic variants of the TGFA gene are also associated with cleft palate only (CPO). The PCR products from 12 overlapping sets of primers to the TGFA cDNA were examined by using single-strand conformational polymorphism analysis. Four DNA polymorphic sites for TGFA were identified in the 3[prime] untranslated region of the TGFA gene. These variants, as well as previously identified RFLPs for TGFA, were characterized in case and control populations for CPO by using X[sup 2] analysis. A significant association between alleles of TGFA and CPO was identified which further supports a role for this gene as one of the genetic determinants of craniofacial development. Sequence analysis of the variants disclosed a cluster of three variable sites within 30 bp of each other in the 3[prime] untranslated region previously associated with an antisense transcript. These studies extend the role for TGFA in craniofacial morphogenesis and support an interrelated mechanism underlying nonsyndromic forms of CL/P. 46 refs., 3 figs., 3 tabs.

  17. Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID

    Directory of Open Access Journals (Sweden)

    Saleha Shamim

    2017-05-01

    Full Text Available Intellectual disability (ID is a neurodevelopmental disorder which appears frequently as the result of genetic mutations and may be syndromic (S-ID or non-syndromic (NS-ID. ID causes an important economic burden, for patient's family, health systems, and society. Identifying genes that cause S-ID can easily be evaluated due to the clinical symptoms or physical anomalies. However, in the case of NS-ID due to the absence of co-morbid features, the latest molecular genetic techniques can be used to understand the genetic defects that underlie it. Recent studies have shown that non-syndromic autosomal recessive (NS-ARID is extremely heterogeneous and contributes much more than X-linked ID. However, very little is known about the genes and loci involved in NS-ARID relative to X-linked ID, and whose complete genetic etiology remains obscure. In this review article, the known genetic etiology of NS-ARID and possible relationships between genes and the associated molecular pathways of their encoded proteins has been reviewed which will enhance our understanding about the underlying genes and mechanisms in NS-ARID.

  18. Unusual bilateral dentigerous cysts in a nonsyndromic patient assessed by cone beam computed tomography

    Directory of Open Access Journals (Sweden)

    Thais Sumie Imada

    2014-01-01

    Full Text Available In the absence of syndromes, bilateral dentigerous cysts (DC located on the jaws are unusual. In English based language literature review, we only found eight reports of nonsyndromic bilateral dentigerous cyst associated with mandibular third molars. Therefore, we report the unusual occurrence of sizable nonsyndromic bilateral DC associated with mandibular impacted third molars in a 42-year-old Caucasian woman. The lesions were assessed by cone beam computed tomography (CBCT the right lesion showed approximately 23.64 mm and the left one, 16.57 mm diameter, both located intimately next to the mandibular canal. Bilateral surgical enucleation, related teeth excision of both third molars and plate for fixation placement on the right and bigger lesion, under general anesthesia was the final treatment choice. Clinical, radiographic and histopathological features confirmed diagnose of bilateral dentigerous cyst. Now-a-days, the patient is on 18 months radiograph follow-up with favorable osseous formation with no evidence of recurrence of the cysts.

  19. Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

    Science.gov (United States)

    Griesi-Oliveira, Karina; Acab, Allan; Gupta, Abha R.; Sunaga, Daniele Yumi; Chailangkarn, Thanathom; Nicol, Xavier; Nunez, Yanelli; Walker, Michael F.; Murdoch, John D.; Sanders, Stephan J.; Fernandez, Thomas V.; Ji, Weizhen; Lifton, Richard P.; Vadasz, Estevão; Dietrich, Alexander; Pradhan, Dennis; Song, Hongjun; Ming, Guo-li; Guoe, Xiang; Haddad, Gabriel; Marchetto, Maria C. N.; Spitzer, Nicholas; Passos-Bueno, Maria Rita; State, Matthew W.; Muotri, Alysson R.

    2014-01-01

    An increasing number of genetic variants have been implicated in autism spectrum disorders (ASD), and the functional study of such variants will be critical for the elucidation of autism pathophysiology. Here, we report a de novo balanced translocation disruption of TRPC6, a cation channel, in a non-syndromic autistic individual. Using multiple models, such as dental pulp cells, iPSC-derived neuronal cells and mouse models, we demonstrate that TRPC6 reduction or haploinsufficiency leads to altered neuronal development, morphology, and function. The observed neuronal phenotypes could then be rescued by TRPC6 complementation and by treatment with IGF1 or hyperforin, a TRPC6-specific agonist, suggesting that ASD individuals with alterations in this pathway might benefit from these drugs. We also demonstrate that MeCP2 levels affect TRPC6 expression. Mutations in MeCP2 cause Rett syndrome, revealing common pathways among ASDs. Genetic sequencing of TRPC6 in 1041 ASD individuals and 2872 controls revealed significantly more nonsynonymous mutations in the ASD population, and identified loss-of-function mutations with incomplete penetrance in two patients. Taken together, these findings suggest that TRPC6 is a novel predisposing gene for ASD that may act in a multiple-hit model. This is the first study to use iPSC-derived human neurons to model non-syndromic ASD and illustrate the potential of modeling genetically complex sporadic diseases using such cells. PMID:25385366

  20. Negotiating hearing disability and hearing disabled identities

    DEFF Research Database (Denmark)

    Lykke Hindhede, Anette

    2012-01-01

        Using disability theory as a framework and social science theories of identity to strengthen the arguments, this paper explores empirically how working-age adults confront the medical diagnosis of hearing impairment. For most participants hearing impairment threatens the stability of social...... interaction and the construction of hearing disabled identities is seen as shaped in the interaction with the hearing impaired person‟s surroundings. In order to overcome the potential stigmatisation the „passing‟ as normal becomes predominant. For many the diagnosis provokes radical redefinitions of the self....... The discursively produced categorisation and subjectivity of senescence mean that rehabilitation technologies such as hearing aids identify a particular life-style (disabled) which determines their social significance. Thus wearing a hearing aid works against the contemporary attempt to create socially ideal...

  1. X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate

    DEFF Research Database (Denmark)

    Kimani, Jane W; Shi, Min; Daack-Hirsch, Sandra

    2007-01-01

    Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes, we investigated the role of skewed X c...

  2. Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R

    2017-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. Although genome-wide association studies have successfully identified a number of risk loci, these loci only account for about 20% of the heritability of orofacial clefts. ...

  3. Symptoms of Autism in Males with Fragile X Syndrome: A Comparison to Nonsyndromic ASD Using Current ADI-R Scores

    Science.gov (United States)

    McDuffie, Andrea; Thurman, Angela John; Hagerman, Randi J.; Abbeduto, Leonard

    2015-01-01

    Symptoms of autism are frequent in males with fragile X syndrome (FXS), but it is not clear whether symptom profiles differ from those of nonsyndromic ASD. Using individual item scores from the Autism Diagnostic Inventory-Revised, we examined which current symptoms of autism differed in boys with FXS relative to same-aged boys diagnosed with…

  4. Hearing Aid and children

    Directory of Open Access Journals (Sweden)

    Jamileh Fatahi

    2002-07-01

    Full Text Available In order to develop oral communication, hearing impaired infants and young children must be able to hear speech comfortably and consistently. To day children with all degrees of hearing loss may be condidates for some kinds of amlification. As children differ from adults, many Factors should be consider in hearing aid selection, evaluation and fitting. For example the child age when he or she is candidate for custom instruments? Do we consider programmable Hearing aid? Are multi memory instruments appropriate for them? What about directional microphones? What style of hearing aid do we select? In this paper such questions are Answered.

  5. Congenital hearing impairment

    Energy Technology Data Exchange (ETDEWEB)

    Robson, Caroline D. [Children' s Hospital and Harvard Medical School, Division of Neuroradiology, Department of Radiology, Boston, MA (United States)

    2006-04-15

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  6. Congenital hearing impairment

    International Nuclear Information System (INIS)

    Robson, Caroline D.

    2006-01-01

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  7. Prevalence of Dental Anomalies in Patients With Nonsyndromic Cleft Lip and/or Palate in a Brazilian Population.

    Science.gov (United States)

    Paranaiba, Lívia Máris Ribeiro; Coletta, Ricardo D; Swerts, Mário Sérgio Oliveira; Quintino, Rafaela Pacífico; de Barros, Letízia Monteiro; Martelli-Júnior, Hercílio

    2013-07-01

    Objective : Many studies have demonstrated a high frequency of dental anomalies in patients with cleft lip and/or palate. Because dental anomalies may complicate dental treatment, we investigated the prevalence of dental anomalies in a group of Brazilian patients with nonsyndromic cleft lip and/or palate. Design, Participants, Setting : Retrospective analysis was performed using clinical records of 296 patients aged between 12 and 30 years with repaired nonsyndromic cleft lip and/or palate without history of tooth extraction and orthodontic treatment. Associations between oral clefts and presence of dental anomalies outside the cleft area were investigated. Results : Dental anomalies were identified in 39.9% of the nonsyndromic cleft lip and/or palate patients, and tooth agenesis (47.5%), impacted tooth (13.1%), and microdontia (12.7%) were the most common anomalies. Cleft lip patients were less affected by dental anomalies compared with cleft palate or cleft lip and palate patients (p  =  .057). Specifically, patients with unilateral cleft lip and palate were significantly more affected by dental anomalies than those with bilateral cleft lip and palate (p  =  .00002), and individuals with unilateral complete cleft lip and palate (p  =  .002) and complete cleft palate (p  =  .01) were significantly more affected by tooth agenesis than other cleft types. Agenesis of the premolars (p  =  .043) and maxillary lateral incisors (p  =  .03) were significantly more frequent in patients with unilateral complete cleft lip and palate. Conclusions : The present study revealed a high frequency of dental anomalies in nonsyndromic cleft lip and/or palate patients and further demonstrated that patients with unilateral cleft lip and palate were frequently more affected by dental anomalies than those with bilateral cleft lip and palate. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning for

  8. Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss.

    Science.gov (United States)

    Umrigar, Ayesha; Musso, Amanda; Mercer, Danielle; Hurley, Annette; Glausier, Cassondra; Bakeer, Mona; Marble, Michael; Hicks, Chindo; Tsien, Fern

    2017-01-01

    Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hearing loss still presents challenges for healthcare providers. Inherited sensorineural hearing loss has high levels of genetic heterogeneity and variable expressivity. Additionally, syndromic hearing loss (hearing loss and additional clinical abnormalities) should be distinguished from non-syndromic (hearing loss is the only clinical symptom). Although the diagnosis of genetic sensorineural hearing loss can be challenging, the patient's family history and ethnicity may provide critical information, as certain genetic mutations are more common in specific ethnic populations. The early identification of the cause of deafness can benefit patients and their families by estimating recurrence risks for future family planning and offering the proper interventions to improve their quality of life. Collaboration between pediatricians, audiologists, otolaryngologists, geneticists, and other specialists are essential in the diagnosis and management of patients with hearing disorders. An early diagnosis is vital for proper management and care, as some clinical manifestations of syndromic sensorineural hearing loss are not apparent at birth and have a delayed age of onset. We present a case of Usher syndrome (congenital deafness and childhood-onset blindness) illustrating the challenges encountered in the diagnosis and management of children presenting with congenital genetic sensorineural hearing loss, along with helpful resources for clinicians and families.

  9. Noise and Hearing Protection

    Science.gov (United States)

    ... ENTCareers Marketplace Find an ENT Doctor Near You Noise and Hearing Protection Noise and Hearing Protection Patient ... it is. How can I tell if a noise is dangerous? People differ in their sensitivity to ...

  10. Genes and Hearing Loss

    Science.gov (United States)

    ... ENTCareers Marketplace Find an ENT Doctor Near You Genes and Hearing Loss Genes and Hearing Loss Patient ... mutation may only have dystopia canthorum. How Do Genes Work? Genes are a road map for the ...

  11. Buying a Hearing Aid

    Science.gov (United States)

    ... the aids? Start using your hearing aids in quiet surroundings, gradually building up to noisier environments. Then eventually work up to wearing your hearing aids all waking hours. Keep a diary to help you remember your ...

  12. OI Issues: Hearing Loss

    Science.gov (United States)

    ... signals normally to the brain. In addition, hearing losses are classified according to the degree of severity: • Mild, • Moderate, • Severe, • Profound. Hearing losses are also classified according to the sound frequency ...

  13. Hearing Loss: Screening Newborns

    Science.gov (United States)

    ... of this page please turn JavaScript on. Feature: Hearing Loss Screening Newborns Past Issues / Spring 2015 Table ... deafness, which account for most cases. Screening Newborns' Hearing Now Standard In 1993, children born in the ...

  14. Hearing and the cochlea

    Science.gov (United States)

    ... like structure that contains the receptor organ for hearing. The cochlea contains the spiral organ of Corti, which is the receptor organ for hearing. It consists of tiny hair cells that translate ...

  15. Occupational hearing loss

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001048.htm Occupational hearing loss To use the sharing features on this page, please enable JavaScript. Occupational hearing loss is damage to the inner ear from noise ...

  16. MRI Findings in 77 Children with Non-Syndromic Autistic Disorder

    Science.gov (United States)

    Boddaert, Nathalie; Zilbovicius, Mônica; Philipe, Anne; Robel, Laurence; Bourgeois, Marie; Barthélemy, Catherine; Seidenwurm, David; Meresse, Isabelle; Laurier, Laurence; Desguerre, Isabelle; Bahi-Buisson, Nadia; Brunelle, Francis; Munnich, Arnold; Samson, Yves; Mouren, Marie-Christine; Chabane, Nadia

    2009-01-01

    Background The clinical relevance of MR scanning in children with autism is still an open question and must be considered in light of the evolution of this technology. MRI was judged to be of insufficient value to be included in the standard clinical evaluation of autism according to the guidelines of the American Academy of Neurology and Child Neurology Society in 2000 [1]. However, this statement was based on results obtained from small samples of patients and, more importantly, included mostly insufficient MRI sequences. Our main objective was to evaluate the prevalence of brain abnormalities in a large group of children with a non-syndromic autistic disorder (AD) using T1, T2 and FLAIR MRI sequences. Methodology MRI inspection of 77 children and adolescents with non-syndromic AD (mean age 7.4±3.6) was performed. All met the DSM-IV and ADI –R criteria for autism. Based on recommended clinical and biological screenings, we excluded patients with infectious, metabolic or genetic diseases, seizures or any other neurological symptoms. Identical MRI inspections of 77 children (mean age 7.0±4.2) without AD, developmental or neurological disorders were also performed. All MRIs were acquired with a 1.5-T Signa GE (3-D T1-FSPGR, T2, FLAIR coronal and axial sequences). Two neuroradiologists independently inspected cortical and sub-cortical regions. MRIs were reported to be normal, abnormal or uninterpretable. Principal Findings MRIs were judged as uninterpretable in 10% (8/77) of the cases. In 48% of the children (33/69 patients), abnormalities were reported. Three predominant abnormalities were observed, including white matter signal abnormalities (19/69), major dilated Virchow–Robin spaces (12/69) and temporal lobe abnormalities (20/69). In all, 52% of the MRIs were interpreted as normal (36/69 patients). Conclusions An unexpectedly high rate of MRI abnormalities was found in the first large series of clinical MRI investigations in non-syndromic autism. These

  17. International hearing protector standardization

    DEFF Research Database (Denmark)

    Poulsen, Torben

    2002-01-01

    Hearing protectors shall fulfill some minimum requirements to their performance. As hearing protector manufacturers sell the products all over the world, the testing and certification of hearing protectors has become an international issue. The ISO working group WG17 under the headlines Acoustics...

  18. Hearing Aids Communication

    DEFF Research Database (Denmark)

    Globally, hearing loss is the second most frequent disability. About 80% of the persons affected by hearing loss do not use hearing aids. The goal of this edited volume is to present a theoretically founded, interdisciplinary approach geared at understanding and improving social interaction...

  19. Deafness and Hearing Loss.

    Science.gov (United States)

    National Information Center for Children and Youth with Disabilities, Washington, DC.

    This brief overview provides information on the definition, incidence, and characteristics of children with hearing impairments and deafness. The federal definitions of hearing impairment and deafness are provided. The different types of hearing loss are noted, including: (1) conductive (caused by diseases or obstructions in the outer or middle…

  20. Hearing poorly with skill

    DEFF Research Database (Denmark)

    Day, Dennis

    2012-01-01

    This paper offers an account of ongoing research into hearing. I offer a characterization of 'skil- led practitioners' from an Ethnomethodological perspective. The skilled practitioner in question is a generic 'hard of hearing' person. The ambition is that such a characterization, both in its...... making and its final state, may be an intrinsic part of design practices concerning the development of hearing aids....

  1. Characteristics of children and adolescents in the Dutch national in- and outpatient mental health service for deaf and hard of hearing youth over a period of 15 years.

    Science.gov (United States)

    van Gent, Tiejo; Goedhart, Arnold W; Treffers, Philip D A

    2012-01-01

    In this study socio-demographic, deafness-related and diagnostic characteristics of hearing impaired children and adolescents referred to a national mental health service for deaf and hard of hearing children and adolescents were examined. Socio-demographic and diagnostic characteristics were compared to corresponding characteristics of hearing referred peers with identified mental health problems. The difference in characteristics between them and hearing referred peers with identified mental health problems was analyzed. A total of 389 deaf and hard of hearing and 3361 hearing children and adolescents was extracted from a database, all first referrals of patients of a center for child and adolescent psychiatry over a 15-year period. With deaf and hard of hearing patients we found higher rates of environmental stress, as indicated by conditions such as more one parent families (38.6% versus 25.8%), and more parents with a low educational level (44.2% versus 31.1%). Moreover, deaf and hard of hearing patients were older at their first referral (10.8 versus 9.4 years) and had higher rates of pervasive developmental disorders (23.7% versus 12.3%) and mental retardation (20.3% versus 3.9%). Within the target group of deaf and hard of hearing patients, most patients were deaf (68.9%; 22.3% was severely hard of hearing), relatively few (13.7%) had a non-syndromal hereditary hearing impairment, and more (21.3%) had a disabling physical health condition, especially those with a pervasive developmental disorder (42.6%). These findings illustrate both the complexity of the problems of deaf and hard of hearing children and adolescents referred to specialist mental health services, and the need for preventive interventions aimed at early recognition. Copyright © 2012 Elsevier Ltd. All rights reserved.

  2. Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate

    DEFF Research Database (Denmark)

    Beaty, Terri H; Ruczinski, Ingo; Murray, Jeffrey C

    2011-01-01

    Nonsyndromic cleft palate (CP) is a common birth defect with a complex and heterogeneous etiology involving both genetic and environmental risk factors. We conducted a genome-wide association study (GWAS) using 550 case-parent trios, ascertained through a CP case collected in an international...... consortium. Family-based association tests of single nucleotide polymorphisms (SNP) and three common maternal exposures (maternal smoking, alcohol consumption, and multivitamin supplementation) were used in a combined 2 df test for gene (G) and gene-environment (G × E) interaction simultaneously, plus...... multiple SNPs associated with higher risk of CP in the presence of maternal smoking. Additional evidence of reduced risk due to G × E interaction in the presence of multivitamin supplementation was observed for SNPs in BAALC on chr. 8. These results emphasize the need to consider G × E interaction when...

  3. Nonsyndromic Synchronous Multifocal Central Giant Cell Granulomas of the Maxillofacial Region: Report of a Case.

    Directory of Open Access Journals (Sweden)

    Anita Munde

    2015-04-01

    Full Text Available Central giant cell granuloma (CGCG is a benign proliferation of fibroblasts and multinucleated giant cells that almost exclusively occurs in the jaws. It commonly occurs in young adults showing a female predilection in the anterior mandible. Multifocal CGCGs in maxillofacial region are very rare and suggestive of systemic diseases such as hyperparathyroidism, an inherited syndrome such as Noonan-like multiple giant cell lesion syndrome or other disorders. Only 10 cases of multifocal CGCGs in the maxillofacial region without any concomitant systemic disease have been reported in the English literature. Here, we report an unusual case of 36 year-old female presented with non-syndromic synchronous, multifocal CGCGs in the left posterior mandible and left posterior maxilla without any concomitant systemic disease. Relevant literature is reviewed and the incidence, clinical features, radiological features, differential diagnosis and management of CGCGs are discussed.

  4. Non-syndromic multiple keratocyst odontogenic tumor: A rare case report

    Directory of Open Access Journals (Sweden)

    Abhijeet Alok

    2015-01-01

    Full Text Available Keratocystic odontogenic tumors (KCOTs are one of the most frequent features of nevoid basal cell carcinoma syndrome (NBCCS. The condition is linked with mutation in the PTCH gene. Partial expression of the gene may result in occurrence of multiple recurring odontogenic keratocysts (OKCs. Although KCOTs are common in clinical practice, simultaneous occurrence of multiple cysts in both the maxilla and mandible of a patient is rare. These patients have early propensity to develop multiple neoplasms like basal cell carcinoma and medulloblastoma. Hence, early diagnosis and treatment is of utmost importance in reducing the severity of the long-term sequelae of NBCCS. We report a rare case of multiple KCOTs in a non-syndromic male patient, with emphasis on its diagnosis, radiographic features, and treatment.

  5. Risk of leukemia in first degree relatives of patients with nonsyndromic cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Eduardo GONÇALVES

    2014-01-01

    Full Text Available The aim of this study was to determine the frequency of leukemia in parents of patients with nonsyndromic cleft lip and/or cleft palate (NSCL/P. This case-control study evaluated first-degree family members of 358 patients with NSCL/P and 1,432 subjects without craniofacial alterations or syndromes. Statistical analysis was carried out using Fisher’s test. From the 358 subjects with NSCL/P, 3 first-degree parents had history of leukemia, while 2 out of 1,432 subjects from the unaffected group had a family history of leukemia. The frequency of positive family history of leukemia was not significantly increased in first-degree relatives of patients with NSCL/P.

  6. Multiple Supernumerary Teeth in a Non-Syndromic Patient: A Case Report

    Directory of Open Access Journals (Sweden)

    Majid Eshgh Pour

    2013-01-01

    Full Text Available Introduction: Multiple supernumerary teeth are a rare phenomenon. It occurs more often in patients with syndromes such as Gardner's syndrome, cleidocranial dysplasia and so on. This phenomenon in absence of such syndromes is rare. The purpose of this report was to introduce a case of non-syndromic multiple supernumerary impacted teeth.Case Report: A 29-year-old woman with no skeletal, metabolic, systemic and mental disorder was referred to oral and maxillofacial department of Mashhad dental school. In clinical evaluation, seven Permanent teeth were missing. In radiographic evaluation, there were a total of 15 impacted teeth which 7 of them were supernumerary.Conclusion: Missing or Excess of one or more teeth usually leads to occlusal and functional problems. In these cases, a complete clinical and radiographic examination accompanieal by a precise history should be performed to plan a suitable surgical-orthodontic-prosthetic treatment.

  7. Initial Treatment for Nonsyndromic Early-Life Epilepsy: An Unexpected Consensus.

    Science.gov (United States)

    Shellhaas, Renée A; Berg, Anne T; Grinspan, Zachary M; Wusthoff, Courtney J; Millichap, John J; Loddenkemper, Tobias; Coryell, Jason; Saneto, Russell P; Chu, Catherine J; Joshi, Sucheta M; Sullivan, Joseph E; Knupp, Kelly G; Kossoff, Eric H; Keator, Cynthia; Wirrell, Elaine C; Mytinger, John R; Valencia, Ignacio; Massey, Shavonne; Gaillard, William D

    2017-10-01

    There are no evidence-based guidelines on the preferred approach to treating early-life epilepsy. We examined initial therapy selection in a contemporary US cohort of children with newly diagnosed, nonsyndromic, early-life epilepsy (onset before age three years). Seventeen pediatric epilepsy centers participated in a prospective cohort study of children with newly diagnosed epilepsy with onset under 36 months of age. Details regarding demographics, seizure types, and initial medication selections were obtained from medical records. About half of the 495 enrolled children with new-onset, nonsyndromic epilepsy were less than 12 months old at the time of diagnosis (n = 263, 53%) and about half (n = 260, 52%) had epilepsy with focal features. Of 464 who were treated with monotherapy, 95% received one of five drugs: levetiracetam (n = 291, 63%), oxcarbazepine (n = 67, 14%), phenobarbital (n = 57, 12%), topiramate (n = 16, 3.4%), and zonisamide (n = 13, 2.8%). Phenobarbital was prescribed first for 50 of 163 (31%) infants less than six months old versus seven of 300 (2.3%) of children six months or older (P epilepsy presentation (focal, generalized, mixed/uncertain). Between the first and second treatment choices, 367 (74%) of children received levetiracetam within the first year after diagnosis. Without any specific effort, the pediatric epilepsy community has developed an unexpectedly consistent approach to initial treatment selection for early-life epilepsy. This suggests that a standard practice is emerging and could be utilized as a widely acceptable basis of comparison in future drug studies. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

    Science.gov (United States)

    Nguyen, Thanh-Minh T; Hull, Sarah; Roepman, Ronald; van den Born, L Ingeborgh; Oud, Machteld M; de Vrieze, Erik; Hetterschijt, Lisette; Letteboer, Stef J F; van Beersum, Sylvia E C; Blokland, Ellen A; Yntema, Helger G; Cremers, Frans P M; van der Zwaag, Paul A; Arno, Gavin; van Wijk, Erwin; Webster, Andrew R; Haer-Wigman, Lonneke

    2017-09-01

    Recent findings suggesting that Abelson helper integration site 1 ( AHI1 ) is involved in non-syndromic retinal disease have been debated, as the functional significance of identified missense variants was uncertain. We assessed whether AHI1 variants cause non-syndromic retinitis pigmentosa (RP). Exome sequencing was performed in three probands with RP. The effects of the identified missense variants in AHI1 were predicted by three-dimensional structure homology modelling. Ciliary parameters were evaluated in patient's fibroblasts, and recombinant mutant proteins were expressed in ciliated retinal pigmented epithelium cells. In the three patients with RP, three sets of compound heterozygous variants were detected in AHI1 (c.2174G>A; p.Trp725* and c.2258A>T; p.Asp753Val, c.660delC; p.Ser221Glnfs*10 and c.2090C>T; p.Pro697Leu, c.2087A>G; p.His696Arg and c.2429C>T; p.Pro810Leu). All four missense variants were present in the conserved WD40 domain of Jouberin, the ciliary protein encoded by AHI1 , with variable predicted implications for the domain structure. No significant changes in the percentage of ciliated cells, nor in cilium length or intraflagellar transport were detected. However, expression of mutant recombinant Jouberin in ciliated cells showed a significantly decreased enrichment at the ciliary base. This report confirms that mutations in AHI1 can underlie autosomal recessive RP. Moreover, it structurally and functionally validates the effect of the RP-associated AHI1 variants on protein function, thus proposing a new genotype-phenotype correlation for AHI1 mutation associated retinal ciliopathies. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  9. Protein implicated in nonsyndromic mental retardation regulates protein kinase A (PKA) activity

    KAUST Repository

    Altawashi, Azza

    2012-02-28

    Mutation of the coiled-coil and C2 domain-containing 1A (CC2D1A) gene, which encodes a C2 domain and DM14 domain-containing protein, has been linked to severe autosomal recessive nonsyndromic mental retardation. Using a mouse model that produces a truncated form of CC2D1A that lacks the C2 domain and three of the four DM14 domains, we show that CC2D1A is important for neuronal differentiation and brain development. CC2D1A mutant neurons are hypersensitive to stress and have a reduced capacitytoformdendritesandsynapsesinculture. Atthebiochemical level,CC2D1Atransduces signals to the cyclic adenosine 3?,5?-monophosphate (cAMP)-protein kinase A (PKA) pathway during neuronal cell differentiation. PKA activity is compromised, and the translocation of its catalytic subunit to the nucleus is also defective in CC2D1A mutant cells. Consistently, phosphorylation of the PKA target cAMP-responsive element-binding protein, at serine 133, is nearly abolished in CC2D1A mutant cells. The defects in cAMP/PKA signaling were observed in fibroblast, macrophage, and neuronal primary cells derived from the CC2D1A KO mice. CC2D1A associates with the cAMP-PKA complex following forskolin treatment and accumulates in vesicles or on the plasma membrane in wild-type cells, suggesting that CC2D1A may recruit the PKA complex to the membrane to facilitate signal transduction. Together, our data show that CC2D1A is an important regulator of the cAMP/PKA signaling pathway, which may be the underlying cause for impaired mental function in nonsyndromic mental retardation patients with CC2D1A mutation. 2012 by The American Society for Biochemistry and Molecular Biology, Inc.

  10. Music and hearing aids.

    Science.gov (United States)

    Madsen, Sara M K; Moore, Brian C J

    2014-10-31

    The signal processing and fitting methods used for hearing aids have mainly been designed to optimize the intelligibility of speech. Little attention has been paid to the effectiveness of hearing aids for listening to music. Perhaps as a consequence, many hearing-aid users complain that they are not satisfied with their hearing aids when listening to music. This issue inspired the Internet-based survey presented here. The survey was designed to identify the nature and prevalence of problems associated with listening to live and reproduced music with hearing aids. Responses from 523 hearing-aid users to 21 multiple-choice questions are presented and analyzed, and the relationships between responses to questions regarding music and questions concerned with information about the respondents, their hearing aids, and their hearing loss are described. Large proportions of the respondents reported that they found their hearing aids to be helpful for listening to both live and reproduced music, although less so for the former. The survey also identified problems such as distortion, acoustic feedback, insufficient or excessive gain, unbalanced frequency response, and reduced tone quality. The results indicate that the enjoyment of listening to music with hearing aids could be improved by an increase of the input and output dynamic range, extension of the low-frequency response, and improvement of feedback cancellation and automatic gain control systems. © The Author(s) 2014.

  11. Music and Hearing Aids

    Directory of Open Access Journals (Sweden)

    Sara M. K. Madsen

    2014-10-01

    Full Text Available The signal processing and fitting methods used for hearing aids have mainly been designed to optimize the intelligibility of speech. Little attention has been paid to the effectiveness of hearing aids for listening to music. Perhaps as a consequence, many hearing-aid users complain that they are not satisfied with their hearing aids when listening to music. This issue inspired the Internet-based survey presented here. The survey was designed to identify the nature and prevalence of problems associated with listening to live and reproduced music with hearing aids. Responses from 523 hearing-aid users to 21 multiple-choice questions are presented and analyzed, and the relationships between responses to questions regarding music and questions concerned with information about the respondents, their hearing aids, and their hearing loss are described. Large proportions of the respondents reported that they found their hearing aids to be helpful for listening to both live and reproduced music, although less so for the former. The survey also identified problems such as distortion, acoustic feedback, insufficient or excessive gain, unbalanced frequency response, and reduced tone quality. The results indicate that the enjoyment of listening to music with hearing aids could be improved by an increase of the input and output dynamic range, extension of the low-frequency response, and improvement of feedback cancellation and automatic gain control systems.

  12. Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate.

    Science.gov (United States)

    Dentino, K M; Valstar, A; Padwa, B L

    2016-06-01

    The goal of this study was to describe the clinical characteristics and treatment outcomes of patients with hemifacial microsomia (HFM) and cleft lip/palate (CL/P), and to compare them to a historic cohort of patients with non-syndromic CL/P treated at the same centre. A retrospective review of patients with HFM and CL/P was performed; the main outcome measures assessed were cleft type/side, surgical outcome, midfacial retrusion, and speech. Twenty-six patients (13 male, 13 female; mean age 22.7±14.9, range 1-52 years) with cleft lip with/without cleft palate (CL±P) were identified: three with cleft lip (12%), two with cleft lip and alveolus and an intact secondary palate (8%), and 21 with cleft lip and palate (CLP) (81%; 15 unilateral and six bilateral). Four patients (19%) had a palatal fistula after palatoplasty. Twelve of 22 patients aged >5 years (55%) had midfacial retrusion and two (9%) required a pharyngeal flap for velopharyngeal insufficiency (VPI). Fisher's exact test demonstrated a higher frequency of complete labial clefting (P=0.004), CLP (P=0.009), midfacial retrusion (P=0.0009), and postoperative palatal fistula (P=0.03) in HFM compared to non-syndromic CL±P. There was no difference in VPI prevalence. This study revealed that patients with HFM and CL±P have more severe forms of orofacial clefting than patients with non-syndromic CL±P. Patients with HFM and CL±P have more severe midfacial retrusion and a higher palatal fistula rate compared to patients with non-syndromic CL±P. Copyright © 2015 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  13. Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment

    International Nuclear Information System (INIS)

    Sousa de Moraes, Vanessa Cristine; Alexandrino, Fabiana; Andrade, Paula Baloni; Camara, Marilia Fontenele; Sartorato, Edi Lucia

    2009-01-01

    Hearing impairment is the most prevalent sensorial deficit in the general population. Congenital deafness occurs in about 1 in 1000 live births, of which approximately 50% has hereditary cause in development countries. Non-syndromic deafness can be caused by mutations in both nuclear and mitochondrial genes. Mutations in mtDNA have been associated with aminoglycoside-induced and non-syndromic deafness in many families worldwide. However, the nuclear background influences the phenotypic expression of these pathogenic mutations. Indeed, it has been proposed that nuclear modifier genes modulate the phenotypic manifestation of the mitochondrial A1555G mutation in the MTRNR1 gene. The both putative nuclear modifiers genes TRMU and MTO1 encoding a highly conserved mitochondrial related to tRNA modification. It has been hypothesizes that human TRMU and also MTO1 nuclear genes may modulate the phenotypic manifestation of deafness-associated mitochondrial mutations. The aim of this work was to elucidate the contribution of mitochondrial mutations, nuclear modifier genes mutations and aminoglycoside exposure in the deafness phenotype. Our findings suggest that the genetic background of individuals may play an important role in the pathogenesis of deafness-associated with mitochondrial mutation and aminoglycoside-induced.

  14. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

    Science.gov (United States)

    Yu, Yongguo; Yao, RuEn; Wang, Lili; Fan, Yanjie; Huang, Xiaodong; Hirschhorn, Joel; Dauber, Andrew; Shen, Yiping

    2015-09-16

    Human height is a complex trait with a strong genetic basis. Recently, a significant association between rare copy number variations (CNVs) and short stature has been identified, and candidate genes in these rare CNVs are being explored. This study aims to evaluate the association between mutations in ARID1B gene and short stature, both the syndromic and non-syndromic form. Based on a case-control study of whole genome chromosome microarray analysis (CMA), three overlapping CNVs were identified in patients with developmental disorders who exhibited short stature. ARID1B, a causal gene for Coffin Siris syndrome, is the only gene encompassed by all three CNVs. A following retrospective genotype-phenotype analysis based on a literature review confirmed that short stature is a frequent feature in those Coffin-Siris syndrome patients with ARID1B mutations. Mutation screening of ARID1B coding regions was further conducted in a cohort of 48 non-syndromic short stature patients,andfour novel missense variants including two de novo mutations were found. These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and intellectual disability, while rare missense variants in ARID1B are associated with non-syndromic short stature. This study supports the notion that mutations in genes related to syndromic short stature may exert milder effect and contribute to short stature in the general population.

  15. A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart.

    Science.gov (United States)

    Manji, Shehnaaz S M; Williams, Louise H; Miller, Kerry A; Ooms, Lisa M; Bahlo, Melanie; Mitchell, Christina A; Dahl, Hans-Henrik M

    2011-03-15

    Hearing impairment is the most common sensory impairment in humans, affecting 1:1,000 births. We have identified an ENU generated mouse mutant, Mozart, with recessively inherited, non-syndromic progressive hearing loss caused by a mutation in the synaptojanin 2 (Synj2), a central regulatory enzyme in the phosphoinositide-signaling cascade. The hearing loss in Mozart is caused by a p.Asn538Lys mutation in the catalytic domain of the inositol polyphosphate 5-phosphatase synaptojanin 2. Within the cochlea, Synj2 mRNA expression was detected in the inner and outer hair cells but not in the spiral ganglion. Synj2(N538K) mutant protein showed loss of lipid phosphatase activity, and was unable to degrade phosphoinositide signaling molecules. Mutant Mozart mice (Synj2(N538K/N538K)) exhibited progressive hearing loss and showed signs of hair cell degeneration as early as two weeks of age, with fusion of stereocilia followed by complete loss of hair bundles and ultimately loss of hair cells. No changes in vestibular or neurological function, or other clinical or behavioral manifestations were apparent. Phosphoinositides are membrane associated signaling molecules that regulate many cellular processes including cell death, proliferation, actin polymerization and ion channel activity. These results reveal Synj2 as a critical regulator of hair cell survival that is essential for hair cell maintenance and hearing function.

  16. Hearing aid adjustment

    DEFF Research Database (Denmark)

    Heinemann, Trine; Matthews, Ben; Raudaskoski, Pirkko Liisa

    2012-01-01

    to the interaction during hearing aid fitting. This report of a Danish pilot study describes two such problems. The first problem arises from the requirement that the audiologist needs to ‘translate’ the patient’s subjective hearing description for making technological decisions. The second problem is the way...... in which the hearing aid user’s implicit and often unrealistic expectations are handled. This kind of research has potential application for developing a model of best practices....

  17. Noise-Induced Hearing Loss

    Science.gov (United States)

    ... Home » Health Info » Hearing, Ear Infections, and Deafness Noise-Induced Hearing Loss On this page: What is ... I find additional information about NIHL? What is noise-induced hearing loss? Every day, we experience sound ...

  18. Hearing Conservation Live #2430

    Energy Technology Data Exchange (ETDEWEB)

    Chochoms, Michael [Los Alamos National Lab. (LANL), Los Alamos, NM (United States)

    2016-08-09

    Occupational hearing loss is one of the most common work-related illnesses in the United States (US). From 22 to 30 million US workers are exposed to hazardous noise levels at work, and 25% of these workers will develop permanent hearing loss. Hearing loss from noise is slow and painless, and you can have a disability before you notice it. This course presents the hazards associated with workplace noise, the purpose and elements of the Los Alamos National Laboratory (LANL) Hearing Conservation Program (HCP), and controls that are available to reduce your exposure to hazardous levels of noise.

  19. Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.

    Science.gov (United States)

    Sharon, Dror; Banin, Eyal

    2015-01-01

    Nonsyndromic retinitis pigmentosa (RP) is the most common inherited retinal degeneration, and prevalence of the disease has been reported in populations of American and European origin with a relatively low consanguinity rate. Our aim was to determine the prevalence of nonsyndromic RP in the Jerusalem region, which has a population of about 1 million individuals with a high rate of consanguinity. The patients' clinical data included eye exam findings (visual acuity, anterior segment, and funduscopy) as well as electroretinographic (ERG) testing results under scotopic and photopic conditions. Mutation analysis on a subgroup of patients was performed mainly with candidate gene analysis and homozygosity mapping. We evaluated the medical records of patients with degenerative retinal diseases residing in the Jerusalem region who were examined over the past 20 years in a large tertiary medical center. A total of 453 individuals affected with nonsyndromic RP were diagnosed at our center, according to funduscopic findings and ERG testing. Based on the estimated population size of 945,000 individuals who reside in the vicinity of Jerusalem, the prevalence of nonsyndromic RP in this region is 1:2,086. The prevalence of RP was higher among Arab Muslims (1:1,798) compared to Jews (1:2,230), mainly due to consanguineous marriages that are more common in the Arab Muslim population. To identify the genetic causes of RP in our cohort, we recruited 383 patients from 183 different families for genetic analysis: 70 with autosomal recessive (AR) inheritance, 15 with autosomal dominant, 86 isolate cases, and 12 with an X-linked inheritance pattern. In 64 (35%) of the families, we identified the genetic cause of the disease, and we revised the inheritance pattern of 20 isolate cases to the AR pattern; 49% of the families in our cohort had AR inheritance. Interestingly, in 42 (66%) of the genetically identified families, the cause of disease was a founder mutation. Previous studies

  20. A cross-sectional survey of 5-year-old children with non-syndromic unilateral cleft lip and palate: the Cleft Care UK study. Part 1: background and methodology.

    Science.gov (United States)

    Persson, M; Sandy, J R; Waylen, A; Wills, A K; Al-Ghatam, R; Ireland, A J; Hall, A J; Hollingworth, W; Jones, T; Peters, T J; Preston, R; Sell, D; Smallridge, J; Worthington, H; Ness, A R

    2015-11-01

    We describe the methodology for a major study investigating the impact of reconfigured cleft care in the United Kingdom (UK) 15 years after an initial survey, detailed in the Clinical Standards Advisory Group (CSAG) report in 1998, had informed government recommendations on centralization. This is a UK multicentre cross-sectional study of 5-year-olds born with non-syndromic unilateral cleft lip and palate. Children born between 1 April 2005 and 31 March 2007 were seen in cleft centre audit clinics. Consent was obtained for the collection of routine clinical measures (speech recordings, hearing, photographs, models, oral health, psychosocial factors) and anthropometric measures (height, weight, head circumference). The methodology for each clinical measure followed those of the earlier survey as closely as possible. We identified 359 eligible children and recruited 268 (74.7%) to the study. Eleven separate records for each child were collected at the audit clinics. In total, 2666 (90.4%) were collected from a potential 2948 records. The response rates for the self-reported questionnaires, completed at home, were 52.6% for the Health and Lifestyle Questionnaire and 52.2% for the Satisfaction with Service Questionnaire. Response rates and measures were similar to those achieved in the previous survey. There are practical, administrative and methodological challenges in repeating cross-sectional surveys 15 years apart and producing comparable data. © 2015 The Authors. Orthodontics & Craniofacial Research Published by John Wiley & Sons Ltd.

  1. A cross-sectional survey of 5-year-old children with non-syndromic unilateral cleft lip and palate: the Cleft Care UK study. Part 1: background and methodology

    Science.gov (United States)

    Persson, M; Sandy, J R; Waylen, A; Wills, A K; Al-Ghatam, R; Ireland, A J; Hall, A J; Hollingworth, W; Jones, T; Peters, T J; Preston, R; Sell, D; Smallridge, J; Worthington, H; Ness, A R

    2015-01-01

    Structured Abstract Objectives We describe the methodology for a major study investigating the impact of reconfigured cleft care in the United Kingdom (UK) 15 years after an initial survey, detailed in the Clinical Standards Advisory Group (CSAG) report in 1998, had informed government recommendations on centralization. Setting and Sample Population This is a UK multicentre cross-sectional study of 5-year-olds born with non-syndromic unilateral cleft lip and palate. Children born between 1 April 2005 and 31 March 2007 were seen in cleft centre audit clinics. Materials and Methods Consent was obtained for the collection of routine clinical measures (speech recordings, hearing, photographs, models, oral health, psychosocial factors) and anthropometric measures (height, weight, head circumference). The methodology for each clinical measure followed those of the earlier survey as closely as possible. Results We identified 359 eligible children and recruited 268 (74.7%) to the study. Eleven separate records for each child were collected at the audit clinics. In total, 2666 (90.4%) were collected from a potential 2948 records. The response rates for the self-reported questionnaires, completed at home, were 52.6% for the Health and Lifestyle Questionnaire and 52.2% for the Satisfaction with Service Questionnaire. Conclusions Response rates and measures were similar to those achieved in the previous survey. There are practical, administrative and methodological challenges in repeating cross-sectional surveys 15 years apart and producing comparable data. PMID:26567851

  2. Hereditary Hearing Loss.

    Science.gov (United States)

    Tran, LenhAnh P.; Grundfast, Kenneth M.

    1997-01-01

    This article discusses inheritance patterns in hearing loss, epidemiology, clues to genetic causes, locating genes that cause hereditary disorders, genes related to hearing loss disorders in individuals with Usher syndrome, Waardenburg syndrome, Treacher-Collins syndrome, Branchio-oto-renal and Pendred syndromes, and the significance of finding…

  3. The Konrad hearing

    International Nuclear Information System (INIS)

    Thomauske, B.

    1993-01-01

    The paper provides an interim assessment: Attempts to break off early the hearing failed. Neither have significant points be found which would provide a technically motivated reason for reexamination. After the hearing, a positive plan approving decision should be taken as soon as possible. The discussion about the energy-policy consensus will have its effects on this. (orig./HSCH) [de

  4. MSX ₁ gene variant and non-syndromic clefting: association or rejection?

    Science.gov (United States)

    Reddy, Naveen Admala; Gopinath, Adusumilli; Reddy, Jayaprakash Thirumala; Devanna, Raghu; Saravanan, Pichai; Rohra, Mayur G

    2014-01-01

    Non-syndromic cleft lip/palate (NSCL/P) is a congenital anomaly with significant medical, psychological and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes. The aim of this study is to amplify the chosen region (799 G >T) of MSX 1 gene, investigate the degree of association and perform a mutation research from Raichur cleft lip and palate patient sample. Case history and clinical examination of the patient were recorded to rule. Written consent was obtained from patients and controls for in vivo study. STUDY WAS DESIGNED IN FOUR STEPS AS FOLLOWS: a. Collection of a blood sample; b. Genomic deoxyribonucleic acid (DNA) extraction; c. Polymerase chain reaction (PCR); d. Restriction fragment length polymorphism (RFLP). Blood samples were collected from 50 subjects having NSCL/P and 50 controls. Genomic DNA was extracted, PCR and RFLP was performed for digestion products that were evaluated. Chi-square test with P value at 95% confidence intervals. The results showed a positive correlation between MSX 1 799 G >T gene variant and NSCL/P patients in Raichur patients. From a genetically diverse etiology MSX 1 799 G >T gene variant may be a good screening marker for NSCL/P in Raichur patients.

  5. Nonsyndromic cleft lip and palate: Evidence of linkage to a microsatellite marker on 6p23

    Energy Technology Data Exchange (ETDEWEB)

    Carinci, F.; Pezzetti, F.; Scapoli, L.; Padula, E.; Baciliero, U.; Curioni, C.; Tognon, M.

    1995-01-01

    Nonsydromic cleft lip with or without secondary clefting of the palate (CL+/{minus}P) is one of the most common birth defects. A previous linkage study concerning CL+/{minus}P and cleft palate (CP) families indicated chromosome 6p, near F13A locus, as a possible region for the presence of a clefting gene. More recently, another linkage study performed on a sample of 12 families with nonsyndromic CL+/{minus}P seemed to exclude this association. To test the hypothesis on the possible presence of a major gene on chromosome 6p, we carried out a study on a large sample (21) of CL+/{minus}P families from northeastern Italy. In conclusion, our investigation can be summarized as follows: (i) CL+/{minus}P disease appears to be heterogeneous; (ii) {approximately}66% of the pedigrees showed an autosomal dominant inheritance with incomplete penetrance; and (iii) CL+/{minus}P locus maps on 6p23 very close to or at the microsatellite marker D6S89. To verify whether the D6S89 is the closest marker to the CL+/{minus}P locus, additional examinations with new markers are underway. 19 refs., 1 fig., 1 tab.

  6. Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome

    Science.gov (United States)

    Stone, Edwin M.; Cideciyan, Artur V.; Aleman, Tomas S.; Scheetz, Todd E.; Sumaroka, Alexander; Ehlinger, Mary A.; Schwartz, Sharon B.; Fishman, Gerald A.; Traboulsi, Elias I.; Lam, Byron L.; Fulton, Anne B.; Mullins, Robert F.; Sheffield, Val C.; Jacobson, Samuel G.

    2014-01-01

    Objective To investigate whether mutations in NPHP5 can cause Leber congenital amaurosis (LCA) without early-onset renal disease. Methods DNA samples from 276 individuals with non-syndromic LCA were screened for variations in the NPHP5 gene. Each had been previously screened for mutations in 8 known LCA genes without identifying a disease-causing genotype. Results Nine of the 276 LCA probands (3.2%) harbored 2 plausible disease-causing mutations (7 different alleles) in NPHP5. Four of these have been previously reported in patients with Senior-Loken syndrome (F141del, R461X, H506del, and R489X) and 3 are novel (A111del, E346X, and R455X). All 9 patients had severe visual loss from early childhood but none had overt renal disease in the first decade of life. Two patients were diagnosed with nephronophthisis in the second decade. Retinal imaging studies showed retained photoreceptor nuclei and retinal pigment epithelium integrity mainly in the cone-rich central retina, a phenotype with strong similarities to that of NPHP6 disease. Conclusions Mutations in NPHP5 can cause LCA without early-onset renal disease. Abnormalities observed in the photoreceptor outer segments (a cilial structure) may explain the severe visual loss in NPHP5-associated LCA. Clinical Relevance The persistence of central photoreceptor nuclei despite severe visual loss in NPHP5 disease is encouraging for future therapeutic interventions. PMID:21220633

  7. [Progress in studies on the genetic risk factors for nonsyndromic cleft lip or palate in China].

    Science.gov (United States)

    Huang, Y Q

    2017-04-09

    Cleft lip and palate is the most common congenital defects of oral and maxillofacial region in human beings. The etiology of this malformation is complex, with both genetic and environmental causal factors are involved. To provide a better understanding in the genetic etiology of cleft lip or palate, the author summarized recent years studies based on Chinese population. Those researches included validation of some candidate genes for cleft lip or palate, using genome wide association analysis which included six independent cohorts from China to elucidate the genetic architecture of non-syndromic cleft lip with or without cleft palate in Chinese population and finally found a new susceptibility locus. This locus was on the 16p13.3 (rs8049367) between CREBBP and ADCY9. It has been mentioned common methods of genetic analysis involved in the researches on cleft lip or palate in this paper. Furthermore, we try to discuss new methods to illustrate the etiology of cleft lip and palate that could provide more inspiration on future researches.

  8. MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

    Directory of Open Access Journals (Sweden)

    L.T. Souza

    2013-08-01

    Full Text Available Nonsyndromic oral clefts (NSOC are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp, 0.169 (173 bp, 0.096 (171 bp and 0.67 (169 bp. A transmission disequilibrium test with a family-based association test (FBAT software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005. These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.

  9. Investigation of the Matrix Metalloproteinase-2 Gene in Patients with Non-Syndromic Mitral Valve Prolapse

    Directory of Open Access Journals (Sweden)

    Maëlle Perrocheau

    2015-07-01

    Full Text Available Non-syndromic mitral valve prolapse (MVP is a common degenerative valvulopathy, predisposing to arrhythmia and sudden death. The etiology of MVP is suspected to be under genetic control, as supported by familial cases and its manifestation in genetic syndrome (e.g., Marfan syndrome. One candidate etiological mechanism is a perturbation of the extracellular matrix (ECM remodeling of the valve. To test this hypothesis, we assessed the role of genetic variants in the matrix metalloproteinase 2 gene (MMP2 known to regulate the ECM turnover by direct degradation of proteins and for which transgenic mice develop MVP. Direct sequencing of exons of MMP2 in 47 unrelated patients and segregation analyses in families did not reveal any causative mutation. We studied eight common single nucleotide polymorphisms (TagSNPs, which summarize the genetic information at the MMP2 locus. The association study in two case controls sets (NCases = 1073 and NControls = 1635 provided suggestive evidence for the association of rs1556888 located downstream MMP2 with the risk of MVP, especially in patients with the fibroelastic defiency form. Our study does not support the contribution of MMP2 rare variation in the etiology to MVP in humans, though further genetic and molecular investigation is required to confirm our current suggestive association of one common variant.

  10. MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

    Energy Technology Data Exchange (ETDEWEB)

    Souza, L.T. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Programa de Pós-Graduaçãoo em Saúde da Criança e do Adolescente, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Kowalski, T.W. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Collares, M.V.M. [Universidade Federal do Rio Grande do Sul, Departamento de Cirurgia, Porto Alegre, RS, Brasil, Departamento de Cirurgia, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Félix, T.M. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Programa de Pós-Graduaçãoo em Saúde da Criança e do Adolescente, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brasil, Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS (Brazil)

    2013-08-10

    Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.

  11. Non-syndromic supernumerary teeth: report of a case with 6 supernumerary teeth

    Directory of Open Access Journals (Sweden)

    Taghibakhsh M

    2011-02-01

    Full Text Available "nBackground and Aims: Multiple supernumerary teeth are rare and often found in association with syndromes such as Gardner, Cleidocranial dysplasia and cleft lip and palate, with a much less chance for isolated"nnon-syndromic cases. The aim of this study was to report a case with 6 supernumerary teeth without syndromic association."nCase Report: The patient was a 33 year-old female, referred to oral diseases and diagnosis department with chief complaint of sensitivity to cold and hot food in right upper premolar region. Oral examination revealed 5 erupted lingually supernumerary teeth (four in mandibular and one in maxillary premolar region, respectively. Further panoramic radiography clarified an extra impacted tooth in the palatal region of left premolar maxillary area. All extra teeth had been appeared since the age of 17 during one year, as the patient claimed. Medical history and thorough clinical and paraclinical examinations were not significant except for the hypothyroidism, since 5 years ago. No other family member noticed to be the case. Based on our findings, a diagnosis of non-syndromic multiple supernumerary teeth was established."nConclusion: A thorough examination of each patient presented with supernumerary teeth, including panoramic and intraoral radiographic images may provide valuable information regarding accompanying syndromes and unerupted teeth. Early diagnosis is an essential step for orthodontic or surgical decisions making, preventing or avoiding worsening complications such as malocclusion, adjacent normal teeth delayed eruption or rotation, diasthema, cystic lesions and resorption of contiguous teeth.

  12. MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

    International Nuclear Information System (INIS)

    Souza, L.T.; Kowalski, T.W.; Collares, M.V.M.; Félix, T.M.

    2013-01-01

    Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil

  13. Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and palate.

    Directory of Open Access Journals (Sweden)

    Gerson Shigeru Kobayashi

    Full Text Available Non-syndromic cleft lip/palate (NSCL/P is a complex, frequent congenital malformation, determined by the interplay between genetic and environmental factors during embryonic development. Previous findings have appointed an aetiological overlap between NSCL/P and cancer, and alterations in similar biological pathways may underpin both conditions. Here, using a combination of transcriptomic profiling and functional approaches, we report that NSCL/P dental pulp stem cells exhibit dysregulation of a co-expressed gene network mainly associated with DNA double-strand break repair and cell cycle control (p = 2.88×10(-2-5.02×10(-9. This network included important genes for these cellular processes, such as BRCA1, RAD51, and MSH2, which are predicted to be regulated by transcription factor E2F1. Functional assays support these findings, revealing that NSCL/P cells accumulate DNA double-strand breaks upon exposure to H2O2. Furthermore, we show that E2f1, Brca1 and Rad51 are co-expressed in the developing embryonic orofacial primordia, and may act as a molecular hub playing a role in lip and palate morphogenesis. In conclusion, we show for the first time that cellular defences against DNA damage may take part in determining the susceptibility to NSCL/P. These results are in accordance with the hypothesis of aetiological overlap between this malformation and cancer, and suggest a new pathogenic mechanism for the disease.

  14. Individual Hearing Loss

    Directory of Open Access Journals (Sweden)

    Sébastien Santurette

    2016-06-01

    Full Text Available It is well-established that hearing loss does not only lead to a reduction of hearing sensitivity. Large individual differences are typically observed among listeners with hearing impairment in a wide range of suprathreshold auditory measures. In many cases, audiometric thresholds cannot fully account for such individual differences, which make it challenging to find adequate compensation strategies in hearing devices. How to characterize, model, and compensate for individual hearing loss were the main topics of the fifth International Symposium on Auditory and Audiological Research (ISAAR, held in Nyborg, Denmark, in August 2015. The following collection of papers results from some of the work that was presented and discussed at the symposium.

  15. Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice

    Directory of Open Access Journals (Sweden)

    Yanfei Wang

    2017-12-01

    Full Text Available Calcium and integrin-binding protein 2 (CIB2 belongs to a protein family with four known members, CIB1 through CIB4, which are characterized by multiple calcium-binding EF-hand domains. Among the family members, the Cib1 and Cib2 genes are expressed in mouse cochlear hair cells, and mutations in the human CIB2 gene have been associated with nonsyndromic deafness DFNB48 and syndromic deafness USH1J. To further explore the function of CIB1 and CIB2 in hearing, we established Cib1 and Cib2 knockout mice using the clustered regularly interspaced short palindromic repeat (CRISPR-associated Cas9 nuclease (CRISPR/Cas9 genome editing technique. We found that loss of CIB1 protein does not affect auditory function, whereas loss of CIB2 protein causes profound hearing loss in mice. Further investigation revealed that hair cell stereocilia development is affected in Cib2 knockout mice. Noticeably, loss of CIB2 abolishes mechanoelectrical transduction (MET currents in auditory hair cells. In conclusion, we show here that although both CIB1 and CIB2 are readily detected in the cochlea, only loss of CIB2 results in profound hearing loss, and that CIB2 is essential for auditory hair cell MET.

  16. 78 FR 5556 - Public Hearing

    Science.gov (United States)

    2013-01-25

    ... SUSQUEHANNA RIVER BASIN COMMISSION Public Hearing AGENCY: Susquehanna River Basin Commission. ACTION: Notice. SUMMARY: The Susquehanna River Basin Commission will hold a public hearing on February 14, 2013, in Harrisburg, Pennsylvania. At this public hearing, the Commission will hear testimony on the...

  17. 77 FR 64576 - Public Hearing

    Science.gov (United States)

    2012-10-22

    ... SUSQUEHANNA RIVER BASIN COMMISSION Public Hearing AGENCY: Susquehanna River Basin Commission. ACTION: Notice. SUMMARY: The Susquehanna River Basin Commission will hold a public hearing on November 15, 2012, in Harrisburg, Pennsylvania. At this public hearing, the Commission will hear testimony on the...

  18. 78 FR 43961 - Public Hearing

    Science.gov (United States)

    2013-07-22

    ... SUSQUEHANNA RIVER BASIN COMMISSION Public Hearing AGENCY: Susquehanna River Basin Commission. ACTION: Notice. SUMMARY: The Susquehanna River Basin Commission will hold a public hearing on August 15, 2013, in Harrisburg, Pennsylvania. At this public hearing, the Commission will hear testimony on the...

  19. 77 FR 44703 - Public Hearing

    Science.gov (United States)

    2012-07-30

    ... SUSQUEHANNA RIVER BASIN COMMISSION Public Hearing AGENCY: Susquehanna River Basin Commission. ACTION: Notice. SUMMARY: The Susquehanna River Basin Commission will hold a public hearing on August 23, 2012, in Harrisburg, Pennsylvania. At this public hearing, the Commission will hear testimony on the...

  20. 78 FR 64260 - Public Hearing

    Science.gov (United States)

    2013-10-28

    ... SUSQUEHANNA RIVER BASIN COMMISSION Public Hearing AGENCY: Susquehanna River Basin Commission. ACTION: Notice. SUMMARY: The Susquehanna River Basin Commission will hold a public hearing on November 13, 2013, in Harrisburg, Pennsylvania. At this public hearing, the Commission will hear testimony on the...

  1. Efficient evaluation of hearing ability

    NARCIS (Netherlands)

    2009-01-01

    A system for establishing a hearing ability model of a hearing ability of a person, includes a data storage configured to store a representation of a distribution of a hearing ability of a population of individuals, and a processor configured to establish a hearing ability model representing a

  2. Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.

    Science.gov (United States)

    Xu, Wenjun; Dai, Hanjun; Lu, Tingting; Zhang, Xiaohui; Dong, Bing; Li, Yang

    2011-01-01

    To describe the clinical and genetic findings in one Chinese family with autosomal recessive retinitis pigmentosa (arRP) and in three unrelated Chinese families with Usher syndrome type II (USH2). One family (FR1) with arRP and three unrelated families (F6, F7, and F8) with Usher syndrome (USH), including eight affected members and seven unaffected family individuals were examined clinically. The study included 100 normal Chinese individuals as normal controls. After obtaining informed consent, peripheral blood samples from all participants were collected and genomic DNA was extracted. Genotyping and haplotyping analyses were performed on the known genetic loci for arRP with a panel of polymorphic markers in family FR1. In all four families, the coding region (exons 2-72), including the intron-exon boundary of the USH2A (Usher syndrome type -2A protein) gene, was screened by PCR and direct DNA sequencing. Whenever substitutions were identified in a patient, a restriction fragment length polymorphism (RFLP) analysis, single strand conformation polymorphism (SSCP) analysis, or high resolution melt curve analysis (HRM) was performed on all available family members and on the 100 normal controls. The affected individuals presented with typical fundus features of retinitis pigmentosa (RP), including narrowing of the vessels, bone-spicule pigmentation, and waxy optic discs. The electroretinogram (ERG) wave amplitudes of the available probands were undetectable. Audiometric tests in the affected individuals in family FR1 were normal, while indicating moderate to severe sensorineural hearing impairment in the affected individuals in families F6, F7, and F8. Vestibular function was normal in all patients from all four families. The disease-causing gene in family FR1 was mapped to the USH2A locus on chromosome 1q41. Seven novel mutations (two missenses, one 7-bp deletion, two small deletions, and two nonsenses) were detected in the four families after sequencing analysis of

  3. Progressive age-dependence and frequency difference in the effect of gap junctions on active cochlear amplification and hearing.

    Science.gov (United States)

    Zong, Liang; Chen, Jin; Zhu, Yan; Zhao, Hong-Bo

    2017-07-22

    Mutations of Connexin 26 (Cx26, GJB2), which is a predominant gap junction isoform in the cochlea, can induce high incidence of nonsyndromic hearing loss. We previously found that targeted-deletion of Cx26 in supporting Deiters cells and outer pillar cells in the cochlea can influence outer hair cell (OHC) electromotility and reduce active cochlear amplification leading to hearing loss, even though there are no gap junction connexin expressions in the auditory sensory hair cells. Here, we further report that hearing loss and the reduction of active amplification in the Cx26 targeted-deletion mice are progressive and different at high and low frequency regions, first occurring in the high frequency region and then progressively extending to the middle and low frequency regions with mouse age increased. The speed of hearing loss extending was fast in the basal high frequency region and slow in the apical low frequency region, showing a logarithmic function with mouse age. Before postnatal day 25, there were no significant hearing loss and the reduction of active cochlear amplification in the low frequency region. Hearing loss and the reduction of active cochlear amplification also had frequency difference, severe and large in the high frequency regions. These new data indicate that the effect of gap junction on active cochlear amplification is progressive, but, consistent with our previous report, exists in both high and low frequency regions in adulthood. These new data also suggest that cochlear gap junctions may have an important role in age-related hearing loss. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.

    Science.gov (United States)

    Cesca, Federica; Bettella, Elisa; Polli, Roberta; Cama, Elona; Scimemi, Pietro; Santarelli, Rosamaria; Murgia, Alessandra

    2018-01-01

    This work was aimed at establishing the molecular etiology of hearing loss in a 9-year old girl with post-lingual non-syndromic mild sensorineural hearing loss with a complex family history of clinically heterogeneous deafness. The proband's DNA was subjected to NGS analysis of a 59-targeted gene panel, with the use of the Ion Torrent PGM platform. Conventional Sanger sequencing was used for segregation analysis in all the affected relatives. The proband and all the other hearing impaired members of the family underwent a thorough clinical and audiological evaluation. A new likely pathogenic mutation in the EYA4 gene (c.1154C > T; p.Ser385Leu) was identified in the proband and in her 42-year-old father with post-lingual non-syndromic profound sensorineural hearing loss. The EYA4 mutation was also found in the proband's grandfather and uncle, both showing clinical features of Waardenburg syndrome type 1. A novel pathogenic splice-site mutation (c.321+1G > A) of the PAX3 gene was found to co-segregate with the EYA4 mutation in these two subjects. The identified novel EYA4 mutation can be considered responsible of the hearing loss observed in the proband and her father, while a dual molecular diagnosis was reached in the relatives co-segregating the EYA4 and the PAX3 mutations. In these two subjects the DFNA10 phenotype was masked by Waardenburg syndrome. The use of NGS targeted gene-panel, in combination with an extensive clinical and audiological examination led us to identify the genetic cause of the hearing loss in members of a family in which different forms of autosomal dominant deafness segregate. These results provide precise and especially important prognostic and follow-up information for the future audiologic management in the youngest affected member. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Hearing Aid Personalization

    DEFF Research Database (Denmark)

    Nielsen, Jens Brehm; Nielsen, Jakob; Jensen, Bjørn Sand

    2013-01-01

    Modern digital hearing aids require and offer a great level of personalization. Today, this personalization is not performed based directly on what the user actually perceives, but on a hearing-care professional’s interpretation of what the user explains about what is perceived. In this paper......, an interactive personalization system based on Gaussian process regression and active learning is proposed, which personalize the hearing aids based directly on what the user perceives. Preliminary results demonstrate a significant difference between a truly personalized setting obtained with the proposed system...

  6. A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment

    Directory of Open Access Journals (Sweden)

    Chung Shing-Fang

    2007-05-01

    Full Text Available Abstract Background Wolfram syndrome gene 1 (WFS1 accounts for most of the familial nonsyndromic low-frequency sensorineural hearing loss (LFSNHL which is characterized by sensorineural hearing losses equal to and below 2000 Hz. The current study aimed to contribute to our understanding of the molecular basis of LFSNHL in an affected Taiwanese family. Methods The Taiwanese family with LFSNHL was phenotypically characterized using audiologic examination and pedigree analysis. Genetic characterization was performed by direct sequencing of WFS1 and mutation analysis. Results Pure tone audiometry confirmed that the family members affected with LFSNHL had a bilateral sensorineural hearing loss equal to or below 2000 Hz. The hearing loss threshold of the affected members showed no progression, a characteristic that was consistent with a mutation in the WFS1 gene located in the DFNA6/14/38 locus. Pedigree analysis showed a hereditarily autosomal dominant pattern characterized by a full penetrance. Among several polymorphisms, a missense mutation Y669H (2005T>C in exon 8 of WFS1 was identified in members of a Taiwanese family diagnosed with LFSNHL but not in any of the control subjects. Conclusion We discovered a novel heterozygous missense mutation in exon 8 of WFS1 (i.e., Y669H which is likely responsible for the LFSNHL phenotype in this particular Taiwanese family.

  7. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

    DEFF Research Database (Denmark)

    Rehman, Shoaib ur; Baig, Shahid Mahmood; Eiberg, Hans

    2011-01-01

    done in all sampled individuals in the family. The nuclear central loop in the five generation family showed homozygosity for a 6-Mb telomeric region on 11p15, whereas all other linkage regions were excluded by calculation of logarithm of odds (LOD) for the SNP microarray data. A maximum LOD score of Z......Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive...

  8. Introduction to audiology: Some basics about hearing loss, hearing technologies and barriers to hearing aid use

    DEFF Research Database (Denmark)

    Mourtou, Eleni; Meis, Markus

    2012-01-01

    This chapter provides background information for researchers who wish to become familiar with some basic medical and audiological aspects of hearing loss and the technology of hearing aids. It introduces (1) the disciplines involved in research on hearing loss, (2) the medical categories of hearing...... loss and their various effects on communication, (3) the different degrees of hearing loss as defined by different national and international organizations, (4) statistics on the preva- lence of hearing loss worldwide, (5) some technological aspects of hearing instruments, (6) sta- tistics on non...

  9. Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

    Science.gov (United States)

    Mangold, Elisabeth; Böhmer, Anne C.; Ishorst, Nina; Hoebel, Ann-Kathrin; Gültepe, Pinar; Schuenke, Hannah; Klamt, Johanna; Hofmann, Andrea; Gölz, Lina; Raff, Ruth; Tessmann, Peter; Nowak, Stefanie; Reutter, Heiko; Hemprich, Alexander; Kreusch, Thomas; Kramer, Franz-Josef; Braumann, Bert; Reich, Rudolf; Schmidt, Gül; Jäger, Andreas; Reiter, Rudolf; Brosch, Sibylle; Stavusis, Janis; Ishida, Miho; Seselgyte, Rimante; Moore, Gudrun E.; Nöthen, Markus M.; Borck, Guntram; Aldhorae, Khalid A.; Lace, Baiba; Stanier, Philip; Knapp, Michael; Ludwig, Kerstin U.

    2016-01-01

    Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individuals have CL/P or CPO, often but not always associated with lower lip pits. Recently, ∼5% of VWS-affected individuals were identified with mutations in the grainy head-like 3 gene (GRHL3). To investigate GRHL3 in nonsyndromic clefting, we sequenced its coding region in 576 Europeans with nsCL/P and 96 with nsCPO. Most strikingly, nsCPO-affected individuals had a higher minor allele frequency for rs41268753 (0.099) than control subjects (0.049; p = 1.24 × 10−2). This association was replicated in nsCPO/control cohorts from Latvia, Yemen, and the UK (pcombined = 2.63 × 10−5; ORallelic = 2.46 [95% CI 1.6–3.7]) and reached genome-wide significance in combination with imputed data from a GWAS in nsCPO triads (p = 2.73 × 10−9). Notably, rs41268753 is not associated with nsCL/P (p = 0.45). rs41268753 encodes the highly conserved p.Thr454Met (c.1361C>T) (GERP = 5.3), which prediction programs denote as deleterious, has a CADD score of 29.6, and increases protein binding capacity in silico. Sequencing also revealed four novel truncating GRHL3 mutations including two that were de novo in four families, where all nine individuals harboring mutations had nsCPO. This is important for genetic counseling: given that VWS is rare compared to nsCPO, our data suggest that dominant GRHL3 mutations are more likely to cause nonsyndromic than syndromic CPO. Thus, with rare dominant mutations and a common risk variant in the coding region, we have identified an important contribution for GRHL3 in nsCPO. PMID:27018475

  10. Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability.

    Science.gov (United States)

    Houge, G; Rasmussen, I H; Hovland, R

    2012-01-01

    In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the post-synaptic density, and a role in RAS/MAPK-dependent signal transduction.

  11. Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability

    OpenAIRE

    Houge, G.; Rasmussen, I.H.; Hovland, R.

    2011-01-01

    In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the pos...

  12. Nkx2-5 Mutations in Patients With Nonsyndromic Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Fariborz Soheili

    2016-01-01

    Full Text Available Background Congenital heart diseases (CHD are the most common of all birth defects, affecting nearly 0.9% of all live births. Nkx2-5 mutations were reported to cause CHD but data in Kurdish populations of Iran are limited. Objectives In this experimental study, we performed high resolution melt (HRM mutation scanning of Nkx2-5 exons of non-syndrome patients. Patients and Methods Thirty nine patients with atrial septal defect and 57 patients with ventricular septal defect, 4 patients possessing both defects as case groups and 50 healthy controls. Then we grouped samples according to HRM graph and sequenced several samples from each group. Results HRM analysis showed 2 deviated curves for exon 1 and one group for exon 2A and exon 2B. Then, 2 samples of exon 1 that showed different HRM curves, 3 samples of another group from this exon and 5 samples of exon 2A, 2B and healthy controls were randomly sequenced. The results of sequencing confirmed the HRM analysis, and one polymorphism (A65G was identified in 2 atrial septal defects with deviated curves. Conclusions The environmental and effective factors on the heart development within embryonic evolution as well as the possibility of the existence of the mutation in coding genes of the other cardiac transcription factors such as GATA4 and TBX5 can be the reasons for the lack of the pathogenic mutation in this study. It is suggested in further related studies to investigate normal and abnormal cardiac tissue samples of these studied patients and coding genes of the other cardiac transcription factors.

  13. Prevalence and characteristics of non-syndromic orofacial clefts and the influence of consanguinity.

    Science.gov (United States)

    Alamoudi, N M; Sabbagh, H J; Innes, N P T; El Derwi, D; Hanno, A Z; Al-Aama, J Y; Habiballah, A H; Mossey, P A

    2014-01-01

    The Objective of this study was to identify the prevalence and describe the characteristics of non-syndromic orofacial cleft (NSOFC) in Jeddah, Saudi Arabia and examine the influence of consanguinity. Six hospitals were selected to represent Jeddah's five municipal districts. New born infants with NSOFC born between 1st of January 2010 to 31st of December 2011 were clinically examined and their number compared to the total number of infants born in these hospitals to calculate the prevalence of NSOFC types and sub-phenotypes. Referred Infants were included for the purpose of studying NSOFC characteristics and their relationship to consanguinity. Information on NSOFC infants was gathered through parents' interviews, infants 'files and patient examinations. Prospective surveillance of births resulted in identifying 37 NSOFC infants born between 1st of January 2010 to 31st of December 2011 giving a birth prevalence of 0.80/1000 living births. The total infants seen, including referred cases, were 79 children. Consanguinity among parents of cleft palate (CP) cases was statistically higher than that among cleft lip with or without cleft palate (CL/P) patients (P = 0.039). Although there appears to be a trend in the relationship between consanguinity and severity of CL/P sub-phenotype, it was not statistically significant (P = 0.248). Birth prevalence of NSOFC in Jeddah City was 0.8/1000 live births with CL/P: 0.68/1000 and CP: 0.13/1000. Both figures were low compared to the global birth prevalence (NSOFC: 1.25/1000, CL/P: 0.94/1000 and CP: 0.31/1000 live births). Consanguineous parents were statistically higher among CP cases than among other NSOFC phenotypes.

  14. Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population

    Directory of Open Access Journals (Sweden)

    Suazo José

    2011-12-01

    Full Text Available Abstract Background Bone morphogenetic protein 4 gene (BMP4 plays a key role during maxillofacial development, since orofacial clefts are observed in animals when this gene is conditionally inactivated. We recently reported the existence of association between nonsyndromic cleft lip/palate (NSCLP and BMP4 polymorphisms by detecting transmission deviations for haplotypes that include a region containing a BMP4 promoter in case-parent trios. The aim of the present study was to search for possible causal mutations within BMP4 promoters (BMP4.1 and BMP4.2. Methods We analyzed the sequence of BMP4.1 and BMP4.2 in 167 Chilean NSCLP cases and 336 controls. Results We detected three novel variants in BMP4.1 (c.-5514G > A, c.-5365C > T and c.-5049C > T which could be considered as cleft risk factors due to their absence in controls. Additionally, rs2855530 G allele (BMP4.2 carriers showed an increased risk for NSCLP restricted to males (OR = 1.52; 95% C.I. = 1.07-2.15; p = 0.019. For this same SNP the dominant genotype model showed a higher frequency of G/G+G/C and a lower frequency of C/C in cases than controls in the total sample (p = 0.03 and in the male sample (p = 0.003. Bioinformatic prediction analysis showed that all the risk variants detected in this study could create new transcription factor binding motifs. Conclusions The sex-dependent association between rs2855530 and NSCLP could indirectly be related to the differential gene expression observed between sexes in animal models. We concluded that risk variants detected herein could potentially alter BMP4 promoter activity in NSCLP. Further functional and developmental studies are necessary to support this hypothesis.

  15. Hearing Conservation Team

    Data.gov (United States)

    Federal Laboratory Consortium — The Hearing Conservation Team focuses on ways to identify the early stages of noise-induced damage to the human ear.Our current research involves the evaluation of...

  16. Living with Hearing Loss

    Science.gov (United States)

    ... version of this page please turn Javascript on. Nora Woodruff and her family, including dad Bob, have ... hearing, balance, smell, taste, voice, speech, and language. Nora Woodruff, daughter of ABC newsman Bob Woodruff and ...

  17. Hearing loss - infants

    Science.gov (United States)

    ... can allow many infants to develop normal language skills without delay. In infants born with hearing loss, ... therapy allow many children to develop normal language skills at the same age as their peers with ...

  18. Types of Hearing Aids

    Science.gov (United States)

    ... aids : Most parts are contained in a small plastic case that rests behind the ear; the case ... certain situations (for example, background noise and whistle reduction). They also have greater flexibility in hearing aid ...

  19. Buying a Hearing Aid

    Science.gov (United States)

    ... in price according to style, features, and local market prices. Price can range from hundreds of dollars to more than $2,500 for a programmable, digital hearing aid. Purchase price should not be the ...

  20. Hearing regulates Drosophila aggression.

    Science.gov (United States)

    Versteven, Marijke; Vanden Broeck, Lies; Geurten, Bart; Zwarts, Liesbeth; Decraecker, Lisse; Beelen, Melissa; Göpfert, Martin C; Heinrich, Ralf; Callaerts, Patrick

    2017-02-21

    Aggression is a universal social behavior important for the acquisition of food, mates, territory, and social status. Aggression in Drosophila is context-dependent and can thus be expected to involve inputs from multiple sensory modalities. Here, we use mechanical disruption and genetic approaches in Drosophila melanogaster to identify hearing as an important sensory modality in the context of intermale aggressive behavior. We demonstrate that neuronal silencing and targeted knockdown of hearing genes in the fly's auditory organ elicit abnormal aggression. Further, we show that exposure to courtship or aggression song has opposite effects on aggression. Our data define the importance of hearing in the control of Drosophila intermale aggression and open perspectives to decipher how hearing and other sensory modalities are integrated at the neural circuit level.

  1. Devices for hearing loss

    Science.gov (United States)

    ... the sounds you want to hear. Assistive listening devices bring certain sounds directly to your ears. This can ... a small room or on a stage. Other devices can bring the sound from your TV, radio, or music ...

  2. Regional Hearing Clerk

    Science.gov (United States)

    The Regional Hearing Clerk receives filings for proceedings under the Consolidated Rules of Practice Governing the Administrative Assessment of Civil Penalties and the Revocation/Termination or Suspension of Permits, 40 Code of Federal Regulations Part 22

  3. Adaptive Processes in Hearing

    DEFF Research Database (Denmark)

    Santurette, Sébastien; Christensen-Dalsgaard, Jakob; Tranebjærg, Lisbeth

    2018-01-01

    , and is essential to achieve successful speech communication, correct orientation in our full environment, and eventually survival. These adaptive processes may differ in individuals with hearing loss, whose auditory system may cope via ‘‘readapting’’ itself over a longer time scale to the changes in sensory input...... induced by hearing impairment and the compensation provided by hearing devices. These devices themselves are now able to adapt to the listener’s individual environment, attentional state, and behavior. These topics related to auditory adaptation, in the broad sense of the term, were central to the 6th...... International Symposium on Auditory and Audiological Research held in Nyborg, Denmark, in August 2017. The symposium addressed adaptive processes in hearing from different angles, together with a wide variety of other auditory and audiological topics. The papers in this special issue result from some...

  4. Genes and Hearing Loss

    Science.gov (United States)

    ... expressivity is seen in families transmitting autosomal dominant Waardenburg syndrome. Within the same family, some affected members may ... risk of having a child with hearing problems. Patient Health Home Copyright © 2018 American Academy of Otolaryngology– ...

  5. Do You Need a Hearing Test?

    Science.gov (United States)

    ... hearing them? Yes No Do you have difficulty hearing or understanding co-workers, clients, or customers? Yes No Do you feel restricted or limited by a hearing problem? Yes No Do you have difficulty hearing ...

  6. Acoustic Trauma - Hearing Loss in Teenagers

    Science.gov (United States)

    ... I Can Hear It, It's Too Loud: Earbuds & Teen Hearing Loss Page Content ​Many parents will agree ... hearing loss." Recommended Hearing Screenings for Older Children & Teens Kids should be screened at three ages: 11- ...

  7. Hearing Aids: MedlinePlus Health Topic

    Science.gov (United States)

    ... for hearing loss (Medical Encyclopedia) Also in Spanish Topic Image MedlinePlus Email Updates Get Hearing Aids updates ... MEDICAL ENCYCLOPEDIA Devices for hearing loss Related Health Topics Cochlear Implants Hearing Disorders and Deafness National Institutes ...

  8. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

    DEFF Research Database (Denmark)

    Freude, Kristine; Hoffmann, Kirsten; Jensen, Lars-Riff

    2004-01-01

    Nonsyndromic X-linked mental retardation (NSXLMR) is a very heterogeneous condition, and most of the underlying gene defects are still unknown. Recently, we have shown that approximately 30% of these genes cluster on the proximal Xp, which prompted us to perform systematic mutation screening...

  9. Hearing aid controlled by binaural source localizer

    NARCIS (Netherlands)

    2009-01-01

    An adaptive directional hearing aid system comprising a left hearing aid and a right hearing aid, wherein a binaural acoustic source localizer is located in the left hearing aid or in the right hearing aid or in a separate body- worn device connected wirelessly to the left hearing aid and the right

  10. Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families.

    Science.gov (United States)

    Schultz, R E; Cooper, M E; Daack-Hirsch, S; Shi, M; Nepomucena, B; Graf, K A; O'Brien, E K; O'Brien, S E; Marazita, M L; Murray, J C

    2004-02-15

    Cleft lip with or without cleft palate (CL/P) is a congenital anomaly with variable birth prevalence based on geographic origins, with the highest rates commonly found in Asian populations. About 70% of cases are nonsyndromic (NS), in which the affected individual has no other abnormalities. NS CL/P is a complex disorder with genetic and environmental effects and no specific genetic loci yet confirmed. Fifteen candidate regions were examined for linkage to NS CL/P. Regions were chosen based on previous suggestive linkage and/or association in human families, or suggestive animal model data. Polymorphic markers in these regions were genotyped for analysis on 36 Filipino families comprised of 126 affected and 218 unaffected individuals. An additional 70 families with 149 affecteds were used for replication of suggestive results. Parametric (LOD score) and nonparametric (SIMIBD) linkage analyses were performed as well as transmission disequilibrium test (TDT) analysis. Five markers yielded suggestive results from the 36 families. The parametric LOD scores for the MSX1-CA and D4S1629 were >1.0 and the SIMIBD P values for D6S1029 and RFC1 are suggestive (value of 0.01 for TGFA was significant. Since the Msx1 mouse knockout has cleft palate and MSX1 mutations have been found in rare cases of syndromic CL/P, this locus is especially plausible for linkage. Previous studies have also found linkage of NS CL/P to 4q31 and 6p23. These regions contain several candidate genes, including AP2 at 6p23 and FGF2, BMPR1B, and MADH1 at 4q31. TGFA has both linkage and linkage disequilibrium data supporting it as a candidate gene for NS CL/P. While no region was definitively confirmed for linkage to NS CL/P, the data do support further investigation using larger sample sizes and candidate gene studies at 2p13.2, 4p16.2, 4q31, 6p23, and 16q22-24. Copyright 2003 Wiley-Liss, Inc.

  11. Newborn hearing screening.

    Science.gov (United States)

    Stewart, D L; Pearlman, A

    1994-11-01

    Congenital deafness is a relatively common problem with an incidence of 1/300 to 1/1000. Most states have no mass screening program for hearing loss, but the state of Kentucky compiles a High Risk Registry which is a historical survey of parents relating to risk factors for hearing loss. Unfortunately this survey can miss 50% of those who have a hearing deficit. If not detected prior to discharge, there is often a delay in diagnosis of deafness which prevents early intervention. We report 2 years' experience at Kosair Children's Hospital where 1,987 infants admitted to well baby, intermediate, or intensive care nurseries were screened using the ALGO-1 screener (Natus Medical Inc, Foster City, CA) which is a modified auditory brain stem evoked response (ABR). Our screening of this population led to an 11% incidence of referral for complete audiological evaluation. There were no significant complications. Forty-eight infants were found to have nonspecified, sensorineural, or conductive hearing loss. The positive predictive value of the test was 96%. Therefore, we feel that the use of the modified ABR in the newborn is a timely, cost efficient method of screening for hearing loss and should be used for mass screening of all newborns.

  12. Geological disposal concept hearings

    International Nuclear Information System (INIS)

    1996-01-01

    The article outlines the progress to date on AECL spent-nuclear fuel geological disposal concept. Hearings for discussion, organised by the federal Environmental Assessment Review Panel, of issues related to this type of disposal method occur in three phases, phase I focuses on broad societal issues related to long term management of nuclear fuel waste; phase II will focus on the technical aspects of this method of disposal; and phase III will consist of community visits in New Brunswick, Quebec, Ontario, Manitoba and Saskatchewan. This article provides the events surrounding the first two weeks of phase I hearings (extracted from UNECAN NEWS). In the first week of hearings, where submissions on general societal issues was the focus, there were 50 presentations including those by Natural Resources Canada, Energy Probe, Ontario Hydro, AECL, Canadian Nuclear Society, Aboriginal groups, environmental activist organizations (Northwatch, Saskatchewan Environmental Society, the Inter-Church Uranium Committee, and the Canadian Coalition for Nuclear responsibility). In the second week of hearings there was 33 presentations in which issues related to siting and implementation of a disposal facility was the focus. Phase II hearings dates are June 10-14, 17-21 and 27-28 in Toronto

  13. Hearing speech in music

    Directory of Open Access Journals (Sweden)

    Seth-Reino Ekström

    2011-01-01

    Full Text Available The masking effect of a piano composition, played at different speeds and in different octaves, on speech-perception thresholds was investigated in 15 normal-hearing and 14 moderately-hearing-impaired subjects. Running speech (just follow conversation, JFC testing and use of hearing aids increased the everyday validity of the findings. A comparison was made with standard audiometric noises [International Collegium of Rehabilitative Audiology (ICRA noise and speech spectrum-filtered noise (SPN]. All masking sounds, music or noise, were presented at the same equivalent sound level (50 dBA. The results showed a significant effect of piano performance speed and octave (P<.01. Low octave and fast tempo had the largest effect; and high octave and slow tempo, the smallest. Music had a lower masking effect than did ICRA noise with two or six speakers at normal vocal effort (P<.01 and SPN (P<.05. Subjects with hearing loss had higher masked thresholds than the normal-hearing subjects (P<.01, but there were smaller differences between masking conditions (P<.01. It is pointed out that music offers an interesting opportunity for studying masking under realistic conditions, where spectral and temporal features can be varied independently. The results have implications for composing music with vocal parts, designing acoustic environments and creating a balance between speech perception and privacy in social settings.

  14. Early Hearing Detection and Intervention: Can Your Baby Hear?

    Centers for Disease Control (CDC) Podcasts

    This podcast discusses how important it is that every child receives a hearing screening as soon as possible after birth. It also gives specific ways that parents and health providers can find out if a child has a possible hearing loss and where to get further information. (Created 6/5/2007 by the Early Hearing Detection and Intervention Program, NCBDDD).

  15. Hearing Protection and Hearing Symptoms in Danish Symphony Orchestras

    DEFF Research Database (Denmark)

    Laitinen, Heli; Poulsen, Torben

    2006-01-01

    A study about hearing protectors, problems involving hearing protector usage, hearing problems and working surroundings of classical musicians was made in three Danish symphony orchestras. The questionnaire used in the study was based on a previous study, a study made in Sweden to rock musicians,...

  16. Comparative analysis of endurance of not hearing and hearing students

    Directory of Open Access Journals (Sweden)

    Iwańska Dagmara

    2013-11-01

    Full Text Available Study aim: Sport participation is important for deaf children, as participants experience physical, psychological and social benefits [23]. This study is a summary of four year’s researches on the endurance level of deaf and well hearing girls and boys. The aim of this study was to compare endurance of not hearing and hearing students.

  17. Noise and Hearing Loss Prevention

    Science.gov (United States)

    ... message, please visit this page: About CDC.gov . NOISE AND HEARING LOSS PREVENTION Language: English (US) Español ( ... when hazardous noise levels cannot be adequately reduced. Noise and Hearing Loss on the NIOSH Science Blog ...

  18. Age-related hearing loss

    Science.gov (United States)

    ... grow older. Your genes and loud noise (from rock concerts or music headphones) may play a large role. The following factors contribute to age-related hearing loss: Family history (age-related hearing loss tends to run in ...

  19. How to Get Hearing Aids

    Science.gov (United States)

    ... if desired. What questions should I ask before buying hearing aids? Before you buy a hearing aid, ... the period of warranty? Does the warranty cover future maintenance and repairs? Will loaner aids be provided ...

  20. Hearing Loss: Symptoms, Diagnosis & Treatment

    Science.gov (United States)

    ... of this page please turn JavaScript on. Feature: Hearing Loss Symptoms, Devices, Prevention & Research Past Issues / Spring ... a disease. It can accompany any type of hearing loss. It can be a side effect of ...

  1. Hearing Voices and Seeing Things

    Science.gov (United States)

    ... Facts for Families Guide Facts for Families - Vietnamese Hearing Voices and Seeing Things No. 102; Updated October ... delusions (a fixed, false, and often bizarre belief). Hearing voices or seeing things that are not there ...

  2. Congenital sensorineural hearing loss

    International Nuclear Information System (INIS)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-01-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems

  3. Congenital sensorineural hearing loss

    Energy Technology Data Exchange (ETDEWEB)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  4. The circling mutant Pcdh15roda is a new mouse model for hearing loss.

    Science.gov (United States)

    Torres, Adriana Amorim; Rzadzinska, Agnieszka K; Ribeiro, Andrea Frozino; Silva, Daniel Almeida da Silva E; Guénet, Jean-Louis; Massironi, Sílvia Maria Gomes; Godard, Ana Lúcia Brunialti

    2013-01-01

    Mouse mutagenesis is a key tool for studying gene function and several mutant alleles have been described and constitute mouse models for human hereditary diseases. Genetic hearing loss represents over 50% of all hearing loss cases in children and, due to the heterogeneity of the disorder, there is still a demand for the isolation and characterization of new genes and alleles. Here we report phenotypic and molecular characterization of a new mouse model for hereditary hearing loss. The mutant rodador, isolated by Massironi and colleagues in 2006, presents an autosomal recessive disorder characterized by deafness and balance dysfunction associated with abnormal stereocilia in the inner ear. The mutation was mapped to mouse chromosome 10, and characterization of the gene Pcdh15 revealed an AT-to-GC transition in intron 23 of mutant animals. The alteration led to the switch of a dinucleotide ApA for ApG, creating a novel intronic acceptor splice site, which leads to incorporation of eight intronic bases into the processed mRNA and alteration of the downstream reading frame. In silico analysis indicated that the mutated protein is truncated and lacks two cadherin domains, and the transmembrane and cytoplasmic domains. Real Time PCR analyses revealed a significantly reduced Pcdh15 mRNA level in the brain of mutant mice, which might be due to the mechanism of non-sense mediated decay. In man, mutations in the orthologue PCDH15 cause non-syndromic deafness and Usher Syndrome Type 1F, a genetic disorder characterized by hearing loss and retinitis pigmentosa. Rodador mouse constitutes a new model for studying deafness in these conditions and may help in the comprehension of the pathogeneses of the disease, as well as of the mechanisms involved in the morphogenesis and function of inner ear stereocilia. This is a new ENU-induced allele and the first isolated in a BALB/c background. Copyright © 2013 Elsevier B.V. All rights reserved.

  5. Deaf/Hearing Research Partnerships

    Science.gov (United States)

    Wolsey, Ju-Lee A.; Misener Dunn, Kim; Gentzke, Scott W.; Joharchi, Hannah A.; Clark, M. Diane

    2017-01-01

    Deaf individuals typically are seen through the lens of the dominant hearing society's perception, i.e., that being deaf is an impairment. Today, a small but growing number of Deaf and hearing researchers are challenging this perception. The authors examined perceptions of what components are necessary for a successful Deaf/hearing research…

  6. 78 FR 11237 - Public Hearing

    Science.gov (United States)

    2013-02-15

    ... NATIONAL TRANSPORTATION SAFETY BOARD Public Hearing On Tuesday, February 26, 2013 the National Transportation Safety Board (NTSB) will convene an Investigative Hearing to gather additional factual information... Union Pacific (UP) intermodal train No. AAMMLX-22 on June 24, 2012 near Goodwell, Oklahoma. The hearing...

  7. Efficient evaluation of hearing ability

    NARCIS (Netherlands)

    2010-01-01

    The present invention relates to a method of establishing a hearing ability model for a person, the method including providing a representation of the distribution of hearing ability for a population of individuals. The method may comprise the steps) performing a hearing evaluation event, comprising

  8. 78 FR 39017 - Investigative Hearing

    Science.gov (United States)

    2013-06-28

    ... NATIONAL TRANSPORTATION SAFETY BOARD Investigative Hearing On November 30, 2012, at 6:59 a.m... exposure. The investigative hearing will discuss Conrail operations and the emergency response to the... in establishing a unified command. The goals of this hearing are to gather additional factual...

  9. 78 FR 21632 - Investigative Hearing

    Science.gov (United States)

    2013-04-11

    ... NATIONAL TRANSPORTATION SAFETY BOARD Investigative Hearing On January 7, 2013, about 1021 eastern... Part 129. The investigative hearing is being held to discuss the Boeing 787 battery and battery charger... goals of this hearing will be to gather additional information on the selection of the lithium ion (Li...

  10. 78 FR 64026 - Investigative Hearing

    Science.gov (United States)

    2013-10-25

    ... NATIONAL TRANSPORTATION SAFETY BOARD Investigative Hearing On Wednesday, November 6, 2013, and... hearing to gather additional factual information for the ongoing investigation into two Metro-North... Investigative Hearing. On Friday, May 17, 2013, at 6:01 p.m. eastern daylight time, eastbound Metro-North...

  11. Assessment of Hearing Impaired Youth.

    Science.gov (United States)

    Hicks, Doin E., Ed.; And Others

    1980-01-01

    The issue of Directions contains 11 articles on assessment of hearing impaired individuals. Entries have the following titles and authors: "Classroom Assessment Techniques for Hearing Impaired Students--A Literature Review" (B. McKee, M. Hausknecht); "Informal Assessment of Hearing Impaired Students In the Classroom" (B. Culhane, R. Hein);…

  12. Comparing Analog and Digital Hearing Aids in Reducing Hearing Disability

    Directory of Open Access Journals (Sweden)

    Ghassem Mohammad Khani

    2004-06-01

    Full Text Available Objective: Comparing analog and digital hearing aids reducing disability caused by hearing deficiency among moderate to severe sensorineural hearing-impaired persons. Method and Material: This descriptive-analytic study was carried out on two groups of subjects participated in this study in some audiology clinics of hearing aid since May 2002 to October 2003. Twenty subjects wore analog hearing aids and twenty one subjects wore digital hearing aids. In this study , no subject had previous middle ear or psychological problems. APHAB questionnaire was completed before using hearing aid and 2 months after to determine benefit of hearing aid use. Results: Total score mean of APHAB inventory before and after use of analoge hearing aids were 52.215+6.420 and 32.300+3.443 respectively. Also total score mean of APHAB inventory before and after use of digital hearing aids were 54.9252+9.028 and 26.321+10.916 respectively. There was no significant difference between total mean score of APHAB inventory before and after using analog and digital hearing aids (P=0.058.While there was significant difference between total mean score of APHAB questionnaire before and after use of analog hearing aids (P<0.001 and also before and after use of digital hearing aids (P<0.001. Moreover age, gender , litracy level , occupation , degree of hearing loss and manner of hearing aid usage did not have significant effect on APHAB results. Configuration of loss had siginficant effect on aversiveness subscale before and after use of analog hearing aids (P=0.008. Previous experience and duration of hearing aid usage had significant effect on aversiveness subscale before and after use of digital hearing aids (P=0.043 and (P=0.024, respectively , while all of these three items did not have significant effect on total mean score of APHAB inventory and also total mean scores of three subscales of ease of communication , reverberation and background noise. Conclusion: Comparing to

  13. Ear, Hearing and Speech

    DEFF Research Database (Denmark)

    Poulsen, Torben

    2000-01-01

    An introduction is given to the the anatomy and the function of the ear, basic psychoacoustic matters (hearing threshold, loudness, masking), the speech signal and speech intelligibility. The lecture note is written for the course: Fundamentals of Acoustics and Noise Control (51001)......An introduction is given to the the anatomy and the function of the ear, basic psychoacoustic matters (hearing threshold, loudness, masking), the speech signal and speech intelligibility. The lecture note is written for the course: Fundamentals of Acoustics and Noise Control (51001)...

  14. How to quantify binaural hearing in patients with unilateral hearing using hearing implants.

    Science.gov (United States)

    Snik, Ad; Agterberg, Martijn; Bosman, Arjan

    2015-01-01

    Application of bilateral hearing devices in bilateral hearing loss and unilateral application in unilateral hearing loss (second ear with normal hearing) does not a priori lead to binaural hearing. An overview is presented on several measures of binaural benefits that have been used in patients with unilateral or bilateral deafness using one or two cochlear implants, respectively, and in patients with unilateral or bilateral conductive/mixed hearing loss using one or two percutaneous bone conduction implants (BCDs), respectively. Overall, according to this overview, the most significant and sensitive measure is the benefit in directional hearing. Measures using speech (viz. binaural summation, binaural squelch or use of the head shadow effect) showed minor benefits, except for patients with bilateral conductive/mixed hearing loss using two BCDs. Although less feasible in daily practise, the binaural masking level difference test seems to be a promising option in the assessment of binaural function. © 2015 S. Karger AG, Basel.

  15. Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans.

    Directory of Open Access Journals (Sweden)

    Bong Jik Kim

    Full Text Available CDH23 mutations have mostly been associated with prelingual severe-to-profound sensorineural hearing loss (SNHL in either syndromic or nonsyndromic SNHL (DFNB12. Herein, we demonstrate the contribution of CDH23 mutations to postlingual nonsyndromic SNHL (NS-SNHL. We screened 32 Korean adult probands with postlingual NS-SNHL sporadically or in autosomal recessive fashion using targeted panel or whole exome sequencing. We identified four (12.5%, 4/32 potential postlingual DFNB12 families that segregated the recessive CDH23 variants, qualifying for our criteria along with rapidly progressive SNHL. Three of the four families carried one definite pathogenic CDH23 variant previously known as the prelingual DFNB12 variant in a trans configuration with rare CDH23 variants. To determine the contribution of rare CDH23 variants to the postlingual NS-SNHL, we checked the minor allele frequency (MAF of CDH23 variants detected from our postlingual NS-SNHL cohort and prelingual NS-SNHL cohort, among the 2040 normal control chromosomes. The allele frequency of these CDH23 variants in our postlingual cohort was 12.5%, which was significantly higher than that of the 2040 control chromosomes (5.53%, confirming the contribution of these rare CDH23 variants to postlingual NS-SNHL. Furthermore, MAF of rare CDH23 variants from the postlingual NS-SNHL group was significantly higher than that from the prelingual NS-SNHL group. This study demonstrates an important contribution of CDH23 mutations to poslingual NS-SNHL and shows that the phenotypic spectrum of DFNB12 can be broadened even into the presbycusis, depending on the pathogenic potential of variants. We also propose that pathogenic potential of CDH23 variants and the clinical fate of DFNB12 may be predicted by MAF.

  16. [Hearing loss and idoneity--the segnalation of noise-induced hearing loss hearing Loss].

    Science.gov (United States)

    Albera, Roberto; Dagna, Federico; Cassandro, Claudia; Canale, Andrea

    2011-01-01

    Work idoneity in hearing loss must be related to working ability and evolution risks. Working ability is referred to the difficulties found in speech comprehension and in signals perception. As regards hearing loss evolution it is necessary to define if the subject is affected by conductive or neurosensorial hearing loss. In conductive hearing loss it is necessary to evaluate entity and frequential distribution of the deficit. In neurosensorial hearing loss it is necessary to distinguish between noise-induced hearing loss and extraprofessional hearing loss. In noise-induced hearing loss the evolution risk is high if the noise exposure is less than 10-15 years or the actual noise exposure is louder than the former. In case of extraprofessional hearing loss the evolution risk is higher in presbycusis, endolymphatic hydrops and toxic hearing loss. The necessity to report the presence on professionale noise-induced hearing loss arises if audiometric threshold is more than 25 dB at 0.5-1-2-3-4 kHz and if it is verified the professional origine of hearing loss.

  17. Hearings on nuclear deterrence

    International Nuclear Information System (INIS)

    Adam, Patricia; Tertrais, Bruno; Niquet, Valerie; Vilboux, Nicole; Kalika, Arnaud; Ravel, Luc; Korsia, Haim; Remy, Stephane; Arbi, Abdelkader; Bentegeat, Henri; Villiers, Pierre de; Norlain, Bernard; Mercier, Denis; Charaix, Patrick; Rogel, Bernard; Coriolis, Charles-edouard de; Boissier, Patrick; Bouvier, Antoine; Charmeau, Alain; Collet-Billon, Laurent; Ricketts, Peter; Collin, Jean-Marie; Bouveret, Patrice; Bigot, Bernard; Verwaerde, Daniel

    2014-01-01

    This report contains hearings of various French actors and experts (researchers, military chaplains, high-ranking officers, industrial executives, members of public military agencies, members of associations promoting non proliferation) on the issue of nuclear deterrence. Each of them states its point of view on nuclear deterrence, on strategic issues, on military issues, on philosophical issues, depending on their positions

  18. NATIONAL HEARING DAY

    CERN Multimedia

    2003-01-01

    The 12th of June 2003 Is the French National Hearing Day. The Medical Service invites everyone working at CERN to come and have an ear test at the infirmary. Bld. 57, ground floor, between 9h00 and 16h00 Tel. 73802

  19. National hearing day

    CERN Multimedia

    2003-01-01

    The 12th of June 2003 Is the French National Hearing Day. The Medical Service invites everyone working at CERN to come and have an ear test at the infirmary. Bld. 57, ground floor, between 9h00 and 16h00 Tel. 73802

  20. [Presbycusis - Age Related Hearing Loss].

    Science.gov (United States)

    Fischer, N; Weber, B; Riechelmann, H

    2016-07-01

    Presbycusis or age related hearing loss can be defined as a progressive, bilateral and symmetrical sensorineural hearing loss due to age related degeneration of inner ear structures. It can be considered a multifactorial complex disorder with environmental and genetic factors. The molecular, electrophysiological and histological damage at different levels of the inner ear cause a progressive hearing loss, which usually affects the high frequencies of hearing. The resulting poor speech recognition has a negative impact on cognitive, emotional and social function in older adults. Recent investigations revealed an association between hearing impairment and social isolation, anxiety, depression and cognitive decline in elderly. These findings emphasize the importance of diagnosis and treating hearing loss in the elderly population. Hearing aids are the most commonly used devices for treating presbycusis. The technical progress of implantable hearing devices allows an effective hearing rehabilitation even in elderly with severe hearing loss. However, most people with hearing impairments are not treated adequately. © Georg Thieme Verlag KG Stuttgart · New York.

  1. Sensorineural hearing loss in children.

    LENUS (Irish Health Repository)

    Wormald, R

    2010-02-01

    The objective of the study was to examine the aetiology of sensorineural hearing loss (SNHL) in a paediatric population presenting to the National Centre of Medical Genetics. A retrospective chart review from 1998 to 2006. One hundred and twenty nine children were investigated for SNHL. The average age of diagnosis of hearing loss was 36 months. The degree of hearing loss was mild in 8 children, moderate in 33 children, severe in 31 children and profound in 57 children. Eighty-five children (66%) were diagnosed with a hereditary hearing loss, 11 (8%) children had an acquired hearing loss and no cause found in 33 (26%) children. This is the first report of the causes of hearing loss in Irish children. The mean age of diagnosis in our cohort is high and emphasises the need for a neonatal screening programme. There remains a number of children for whom the cause of hearing loss remains unknown.

  2. Early postnatal development of the mandible in children with isolated cleft palate and children with nonsyndromic Robin sequence

    DEFF Research Database (Denmark)

    Eriksen, J.; Hermann, N.V.; Darvann, Tron Andre

    2006-01-01

    Objective: Analysis of early postnatal mandibular size and growth velocity in children with untreated isolated cleft palate (ICP), nonsyndromic Robin sequence (RS), and a control group of children with unilateral incomplete cleft lip (UICL). Material: 114 children (66 isolated cleft palate, 7 Robin...... and mandibular growth velocity (mm/year) was calculated. Cleft width was measured on the casts at 2 months of age. Results: Mean mandibular length and posterior height were significantly smaller in isolated cleft palate and Robin sequence, compared with unilateral incomplete cleft lip. Mandibular length in Robin...... sequence was also significantly shorter, compared with isolated cleft palate. No significant difference was found between mean mandibular growth velocities in the three groups. No significant correlation was found between mandibular length and cleft width in either isolated cleft palate or Robin sequence...

  3. Multiple tooth anomalies in a nonsyndromic patient with class II division 2 malocclusions: A case report and a literature review.

    Science.gov (United States)

    Isman, E; Isman, O; Aktan, A M; Ciftci, E; Topcuoglu, T

    2015-01-01

    Reports in the literature about the craniofacial characteristics of patients with class II division 2 malocclusions show a lot of different patterns accompanied by palatally displaced upper incisors, congenital missing teeth, polydiastema, fusion, germination, tooth impaction, peg-shaped lateral incisors, persistent teeth, hypodontia, persistent deciduous teeth, transpositions, and supernumerary teeth. The following case report focuses on the description of the clinical characteristics observed on a patient with a very unusual conjunction of dental and skeletal anomalies mentioned above, as well as a literature review on the related issues. Extra-intra-oral examinations, radiographic evaluations, orthodontic consultation, and reviewing the literature concluded that this nonsyndromic patient that refused to receive all dental treatment approaches is special with its uniqueness.

  4. A Comparative Study of Facial Asymmetry in Philippine, Colombian, and Ethiopian Families with Nonsyndromic Cleft Lip Palate

    Directory of Open Access Journals (Sweden)

    Liliana Otero

    2012-01-01

    Full Text Available Objective. To compare the asymmetry displayed by Philippine, Colombian, and Ethiopian unaffected parents of patients with nonsyndromic cleft palate (NSCLP and a control population. Methods. Facial measurements were compared between unaffected parents of NSCLP patients and those in the control group for three populations from South America, Asia, and Africa by anthropometric and photographic measurements. Fluctuating and directional asymmetries, height and width proportions, were analyzed and compared. Results. Fluctuating asymmetries (ear length, middle line to Zigion perpendicular for left and right sides and variations in the facial thirds demonstrated statistical significance in the study group of unaffected parents from Colombia and Philippines, while increased interorbital distance was evident in the unaffected Ethiopian parents of NSCLP patients. Conclusions. The facial differences in unaffected parents could indicate an underlying genetic liability. Identification of these differences has relevance in the understanding of the etiology of NSCLP.

  5. Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation

    International Nuclear Information System (INIS)

    Young Wieyen; Zhao Lidong; Qian Yaping; Wang Qiuju; Li Ning; Greinwald, John H.; Guan Minxin

    2005-01-01

    Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here the clinical, genetic, and molecular characterization of four Chinese pedigrees with aminoglycoside-induced and nonsyndromic hearing impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects, although these subjects share some common features: bilateral and sensorineural hearing impairment. Strikingly, these Chinese pedigrees exhibited extremely low penetrance of hearing loss (5.2%, 4.8%, 4.2%, and 13.3%, respectively, and with an average 8% penetrance). In particular, four of all five affected matrilineal relatives of these pedigrees had aminoglycoside-induced hearing loss. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical homoplasmic A1555G mutation, associated with hearing impairment in many families from different genetic backgrounds. The fact that mtDNA of those pedigrees belonged to different haplogroups R9a, N9a, D4a, and D4 suggested that the A1555G mutation occurred sporadically and multiplied through evolution of the mtDNA in China. However, there was the absence of functionally significant mutations in tRNA and rRNAs or secondary LHON mutations in these Chinese families. These data imply that the nuclear background or/and mitochondrial haplotype may not play a significant role in the phenotypic expression of the A1555G mutation in these Chinese pedigrees. However, aminoglycoside appears to be a major modifier factor for the phenotypic manifestation of the A1555G mutation in these Chinese families

  6. Comparing the Use of 3D Photogrammetry and Computed Tomography in Assessing the Severity of Single-Suture Nonsyndromic Craniosynostosis.

    Science.gov (United States)

    Ho, Olivia A; Saber, Nikoo; Stephens, Derek; Clausen, April; Drake, James; Forrest, Christopher; Phillips, John

    2017-05-01

    Single-suture nonsyndromic craniosynostosis is diagnosed using clinical assessment and computed tomography (CT). With increasing awareness of the associated risks of radiation exposure, the use of CT is particularly concerning in patients with craniosynostosis since they are exposed at a younger age and more frequently than the average child. Three-dimensional (3D) photogrammetry is advantageous-it involves no radiation, is conveniently obtainable within clinic, and does not require general anaesthesia. This study aims to assess how 3D photogrammetry compares to CT in the assessment of craniosynostosis severity, to quantify surgical outcomes, and analyze the validity of 3D photogrammetry in craniosynostosis. Computed tomography images and 3D photographs of patients who underwent craniosynostosis surgery were assessed and aligned to best fit. The intervening area between the CT and 3D photogrammetry curves at the supraorbital bar (bandeau) level in axial view was calculated. Statistical analysis was performed using Student t test. Ninety-five percent confidence intervals were determined and equivalence margins were applied. In total, 41 pairs of CTs and 3D photographs were analyzed. The 95% confidence interval was 198.16 to 264.18 mm 2 and the mean was 231.17 mm 2 . When comparisons were made in the same bandeau region omitting the temporalis muscle, the 95% confidence interval was 108.94 to 147.38 mm 2 , and the mean was 128.16 mm 2 . Although statistically significant difference between the modalities was found, they can be attributable to the dampening effect of soft tissue. Within certain error margins, 3D photogrammetry is comparable to CT in assessing the severity of single-suture nonsyndromic craniosynostosis. However, a dampening effect can be attributable to the soft tissue. Three-dimensional photogrammetry may be more applicable for severe cases of craniosynostosis but not milder deformity. It may also be beneficial for assessing the overall appearance and

  7. Histologic and immunohistochemical characteristics of cutaneous cysts in Goltz-Gorlin syndrome: clues for differentiation of nonsyndromic cysts.

    Science.gov (United States)

    Tirado, Mariantonieta; Ständer, Sonja; Metze, Dieter

    2014-11-01

    Goltz-Gorlin syndrome presents with multiple basal cell carcinomas, odontogenic keratocysts, and cutaneous cysts, among other manifestations. The cutaneous cysts have been described as both epidermoid cysts and keratocysts but were not further characterized. Light microscopic examinations were made on 23 cutaneous cysts in 4 patients associated with Goltz-Gorlin syndrome located on extremities, face, trunk, palms, and soles and compared with nonsyndromic vellus hair cysts, steatocystomas, and hybrid cysts. Twenty-one of the syndromic cysts revealed alternating infundibular-like and steatocystoma-like squamous epitheliums in varying proportions. The cysts were lined by both smooth and corrugated squamous epithelium. The horny layer was composed by alternating areas of thin, lamellate, and compact eosinophilic keratin. Only 2 cases showed an exclusive steatocystoma-like type of epithelium very similar to odontogenic keratocysts. Sebaceous glands and follicular structures were absent. There were no differences between palmar and plantar cysts and other anatomic locations. The ultrastructural findings in syndromatic cysts confirmed variable expression of keratohyalin granules. Only 3 of 6 cases of nonsyndromic hybrid cysts showed overlapping features with syndromic cysts. Immunohistochemical profiling of keratin, involucrin, filaggrin, loricrin, and BCL-2 expression in syndromatic cysts showed exclusive positivity of K19 and continuous staining for BCL-2. In summary, 2 types of cutaneous cysts are characteristic of Goltz-Gorlin, irrelevant of their anatomic location, namely steatocystoma-like and more frequently hybrid-like. The diagnosis of syndromic hybrid-like cysts should be considered whenever infundibular and steatocystoma differentiation alternate and overlap. Altogether, these findings in epithelial cysts may raise the suspicion of Goltz-Gorlin as an underlying cause.

  8. Evidence for gene-environment interaction in a genome wide study of isolated, non-syndromic cleft palate

    Science.gov (United States)

    Beaty, Terri H.; Ruczinski, Ingo; Murray, Jeffrey C.; Marazita, Mary L.; Munger, Ronald G.; Hetmanski, Jacqueline B.; Murray, Tanda; Redett, Richard J.; Fallin, M. Daniele; Liang, Kung Yee; Wu, Tao; Patel, Poorav J.; Jin, Sheng C.; Zhang, Tian Xiao; Schwender, Holger; Wu-Chou, Yah Huei; Chen, Philip K; Chong, Samuel S; Cheah, Felicia; Yeow, Vincent; Ye, Xiaoqian; Wang, Hong; Huang, Shangzhi; Jabs, Ethylin W.; Shi, Bing; Wilcox, Allen J.; Lie, Rolv T.; Jee, Sun Ha; Christensen, Kaare; Doheny, Kimberley F.; Pugh, Elizabeth W.; Ling, Hua; Scott, Alan F.

    2011-01-01

    Non-syndromic cleft palate (CP) is a common birth defect with a complex and heterogeneous etiology involving both genetic and environmental risk factors. We conducted a genome wide association study (GWAS) using 550 case-parent trios, ascertained through a CP case collected in an international consortium. Family based association tests of single nucleotide polymorphisms (SNP) and three common maternal exposures (maternal smoking, alcohol consumption and multivitamin supplementation) were used in a combined 2 df test for gene (G) and gene-environment (G×E) interaction simultaneously, plus a separate 1 df test for G×E interaction alone. Conditional logistic regression models were used to estimate effects on risk to exposed and unexposed children. While no SNP achieved genome wide significance when considered alone, markers in several genes attained or approached genome wide significance when G×E interaction was included. Among these, MLLT3 and SMC2 on chromosome 9 showed multiple SNPs resulting in increased risk if the mother consumed alcohol during the peri-conceptual period (3 months prior to conception through the first trimester). TBK1 on chr. 12 and ZNF236 on chr. 18 showed multiple SNPs associated with higher risk of CP in the presence of maternal smoking. Additional evidence of reduced risk due to G×E interaction in the presence of multivitamin supplementation was observed for SNPs in BAALC on chr. 8. These results emphasize the need to consider G×E interaction when searching for genes influencing risk to complex and heterogeneous disorders, such as non-syndromic CP. PMID:21618603

  9. 9 CFR 124.42 - Hearing procedure.

    Science.gov (United States)

    2010-01-01

    ... Diligence Hearing § 124.42 Hearing procedure. (a) The presiding officer shall be appointed by the... hearing. (g) The due diligence hearing will be conducted in accordance with rules of practice adopted for... opportunity to participate as a party in the hearing. The standard of due diligence set forth in § 124.33 will...

  10. 34 CFR 300.181 - Hearing procedures.

    Science.gov (United States)

    2010-07-01

    ... evidentiary hearing and estimation of time for each presentation; or (E) Completion of the review and the... of the parties during the proceedings. The Hearing Official or Hearing Panel takes all steps... disposition of the case. (2) The Hearing Official or Hearing Panel may schedule a prehearing conference with...

  11. 12 CFR 308.155 - Hearing.

    Science.gov (United States)

    2010-01-01

    ... 12 Banks and Banking 4 2010-01-01 2010-01-01 false Hearing. 308.155 Section 308.155 Banks and... Pursuant to Section 32 of the FDIA § 308.155 Hearing. (a) Hearing dates. The Executive Secretary shall order a hearing to be commenced within 30 days after receipt of a request for a hearing filed pursuant...

  12. 19 CFR 111.67 - Hearing.

    Science.gov (United States)

    2010-04-01

    ... 19 Customs Duties 1 2010-04-01 2010-04-01 false Hearing. 111.67 Section 111.67 Customs Duties U.S... Revocation § 111.67 Hearing. (a) Hearing officer. The hearing officer must be an administrative law judge... right to examine all exhibits offered at the hearing and will have the right to cross-examine witnesses...

  13. 49 CFR 209.115 - Hearing.

    Science.gov (United States)

    2010-10-01

    ... 49 Transportation 4 2010-10-01 2010-10-01 false Hearing. 209.115 Section 209.115 Transportation... Hearing. (a) When a hearing is requested and scheduled under § 209.113, a hearing officer designated by the Chief Counsel convenes and presides over the hearing. If requested by respondent and if...

  14. 5 CFR 1215.5 - Hearing.

    Science.gov (United States)

    2010-01-01

    ... 5 Administrative Personnel 3 2010-01-01 2010-01-01 false Hearing. 1215.5 Section 1215.5... § 1215.5 Hearing. (a) Request for hearing. (1) An employee must file a petition for a hearing in accordance with the instructions outlined in the agency's notice to offset. (2) A hearing may be requested by...

  15. 34 CFR 668.116 - Hearing.

    Science.gov (United States)

    2010-07-01

    ... 34 Education 3 2010-07-01 2010-07-01 false Hearing. 668.116 Section 668.116 Education Regulations... Program Review Determinations § 668.116 Hearing. (a) A hearing is a process conducted by the hearing official whereby an orderly presentation of arguments and evidence is made by the parties. (b) The hearing...

  16. 14 CFR 13.79 - Hearing.

    Science.gov (United States)

    2010-01-01

    ... 14 Aeronautics and Space 1 2010-01-01 2010-01-01 false Hearing. 13.79 Section 13.79 Aeronautics....79 Hearing. If an alleged violator requests a hearing in accordance with § 13.75, the procedure of Subpart D of this part applies. At the close of the hearing, the Hearing Officer, on the record or...

  17. 40 CFR 57.807 - Hearing.

    Science.gov (United States)

    2010-07-01

    ... 40 Protection of Environment 5 2010-07-01 2010-07-01 false Hearing. 57.807 Section 57.807... § 57.807 Hearing. (a) Composition of hearing panel. The Presiding Officer shall preside at the hearing held under this subpart. An EPA panel shall also take part in the hearing. In general, the membership...

  18. 34 CFR 668.88 - Hearing.

    Science.gov (United States)

    2010-07-01

    ... 34 Education 3 2010-07-01 2010-07-01 false Hearing. 668.88 Section 668.88 Education Regulations of... Proceedings § 668.88 Hearing. (a) A hearing is an orderly presentation of arguments and evidence conducted by a hearing official. (b) If the hearing official, the designated department official who brought a...

  19. 10 CFR 16.9 - Hearing.

    Science.gov (United States)

    2010-01-01

    ... 10 Energy 1 2010-01-01 2010-01-01 false Hearing. 16.9 Section 16.9 Energy NUCLEAR REGULATORY... § 16.9 Hearing. (a) Request for hearing. (1) An employee shall file a petition for a hearing in... creditor agency, a hearing may be requested by filing a written petition stating why the employee disputes...

  20. 45 CFR 16.11 - Hearing.

    Science.gov (United States)

    2010-10-01

    ... 45 Public Welfare 1 2010-10-01 2010-10-01 false Hearing. 16.11 Section 16.11 Public Welfare... BOARD § 16.11 Hearing. (a) Electing a hearing. If the appellant believes a hearing is appropriate, the... appeal file). The Board will approve a request (and may schedule a hearing on its own or in response to a...

  1. 19 CFR 356.23 - Hearing.

    Science.gov (United States)

    2010-04-01

    ... 19 Customs Duties 3 2010-04-01 2010-04-01 false Hearing. 356.23 Section 356.23 Customs Duties... § 356.23 Hearing. (a) Scheduling of hearing. The administrative law judge will schedule the hearing at a... parties adequately to prepare for the hearing and the importance of expeditiously resolving the matter. (b...

  2. 45 CFR 81.51 - Notice of hearing or opportunity for hearing.

    Science.gov (United States)

    2010-10-01

    ... 45 Public Welfare 1 2010-10-01 2010-10-01 false Notice of hearing or opportunity for hearing. 81.51 Section 81.51 Public Welfare DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL ADMINISTRATION PRACTICE AND PROCEDURE FOR HEARINGS UNDER PART 80 OF THIS TITLE Proceedings Prior to Hearing § 81.51 Notice of hearing or opportunity for hearing....

  3. Mathematics Motivation, Anxiety, and Performance in Female Deaf/Hard-of-Hearing and Hearing Students

    Science.gov (United States)

    Ariapooran, Saeed

    2017-01-01

    Hearing loss can be a major detriment to academic achievement among students. The present comparative study examines the differences in mathematics motivation, anxiety, and performance in female students with hearing loss and their hearing peers. A total of 63 female students with hearing loss (deaf and hard-of-hearing) and 63 hearing female…

  4. Conductive hearing loss and bone conduction devices: restored binaural hearing?

    Science.gov (United States)

    Agterberg, Martijn J H; Hol, Myrthe K S; Cremers, Cor W R J; Mylanus, Emmanuel A M; van Opstal, John; Snik, Ad F M

    2011-01-01

    An important aspect of binaural hearing is the proper detection of interaural sound level differences and interaural timing differences. Assessments of binaural hearing were made in patients with acquired unilateral conductive hearing loss (UCHL, n = 11) or congenital UCHL (n = 10) after unilateral application of a bone conduction device (BCD), and in patients with bilateral conductive or mixed hearing loss after bilateral BCD application. Benefit (bilateral versus unilateral listening) was assessed by measuring directional hearing, compensation of the acoustic head shadow, binaural summation and binaural squelch. Measurements were performed after an acclimatization time of at least 10 weeks. Unilateral BCD application was beneficial, but there was less benefit in the patients with congenital UCHL as compared to patients with acquired UCHL. In adults with bilateral hearing loss, bilateral BCD application was clearly beneficial as compared to unilateral BCD application. Binaural summation was present, but binaural squelch could not be proven. To explain the poor results in the patients with congenital UCHL, two factors seemed to be important. First, a critical period in the development of binaural hearing might affect the binaural hearing abilities. Second, crossover stimulation, referring to additional stimulation of the cochlea contralateral to the BCD side, might deteriorate binaural hearing in patients with UCHL. Copyright © 2011 S. Karger AG, Basel.

  5. Can You Hear Architecture

    DEFF Research Database (Denmark)

    Ryhl, Camilla

    2016-01-01

    Taking an off set in the understanding of architectural quality being based on multisensory architecture, the paper aims to discuss the current acoustic discourse in inclusive design and its implications to the integration of inclusive design in architectural discourse and practice as well...... as the understanding of user needs. The paper further points to the need to elaborate and nuance the discourse much more, in order to assure inclusion to the many users living with a hearing impairment or, for other reasons, with a high degree of auditory sensitivity. Using the authors’ own research on inclusive...... design and architectural quality for people with a hearing disability and a newly conducted qualitative evaluation research in Denmark as well as architectural theories on multisensory aspects of architectural experiences, the paper uses examples of existing Nordic building cases to discuss the role...

  6. Simultaneous Occurence of an Autosomal Dominant Inherited MSX1 Mutation and an X-linked Recessive Inherited EDA Mutation in One Chinese Family with Non-syndromic Oligodontia.

    Science.gov (United States)

    Zhang, Xiao Xia; Wong, Sing Wai; Han, Dong; Feng, Hai Lan

    2015-01-01

    To describe the simultaneous occurence of an autosomal dominant inherited MSX1 mutation and an X-linked recessive inherited EDA mutation in one Chinese family with nonsyndromic oligodontia. Clinical data of characteristics of tooth agenesis were collected. MSX1 and EDA gene mutations were detected in a Chinese family of non-syndromic oligodontia. Mild hypodontia in the parents and severe oligodontia in the son was recorded. A novel missense heterozygous mutation c.517C>A (p.Arg173Ser) was detected in the MSX1 gene in the boy and the father. A homozygous missense mutation c.1001G>A (p.Arg334His) was detected in the EDA gene in the boy and the same mutant occurred heterozygously in the mother. Simultaneous occurence of two different gene mutations with different inheritence patterns, which both caused oligodontia, which occurred in one subject and in one family, was reported.

  7. Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss

    International Nuclear Information System (INIS)

    Mkaouar-Rebai, Emna; Tlili, Abdelaziz; Masmoudi, Saber; Louhichi, Nacim; Charfeddine, Ilhem; Amor, Mohamed Ben; Lahmar, Imed; Driss, Nabil; Drira, Mohamed; Ayadi, Hammadi; Fakhfakh, Faiza

    2006-01-01

    We explored the mitochondrial 12S rRNA and the tRNA Ser(UCN) genes in 100 Tunisian families affected with NSHL and in 100 control individuals. We identified the mitochondrial A1555G mutation in one out of these 100 families and not in the 100 control individuals. Members of this family harbouring the A1555G mutation showed phenotypic heterogeneity which could be explained by an eventual nuclear-mitochondrial interaction. So, we have screened three nuclear genes: GJB2, GJB3, and GJB6 but we have not found correlation between the phenotypic heterogeneity and variants detected in these genes. We explored also the entire mitochondrial 12S rRNA and the tRNA Ser(UCN) genes. We detected five novel polymorphisms: T742C, T794A, A813G, C868T, and C954T, and 12 known polymorphisms in the mitochondrial 12S rRNA gene. None of the 100 families or the 100 controls were found to carry mutations in the tRNA Ser(UCN) gene. We report here First mutational screening of the mitochondrial 12S rRNA and the tRNA Ser(UCN) genes in the Tunisian population which describes the second family harbouring the A1555G mutation in Africa and reveals novel polymorphisms in the mitochondrial 12S rRNA gene

  8. Hearing speech in music.

    Science.gov (United States)

    Ekström, Seth-Reino; Borg, Erik

    2011-01-01

    The masking effect of a piano composition, played at different speeds and in different octaves, on speech-perception thresholds was investigated in 15 normal-hearing and 14 moderately-hearing-impaired subjects. Running speech (just follow conversation, JFC) testing and use of hearing aids increased the everyday validity of the findings. A comparison was made with standard audiometric noises [International Collegium of Rehabilitative Audiology (ICRA) noise and speech spectrum-filtered noise (SPN)]. All masking sounds, music or noise, were presented at the same equivalent sound level (50 dBA). The results showed a significant effect of piano performance speed and octave (Ptempo had the largest effect; and high octave and slow tempo, the smallest. Music had a lower masking effect than did ICRA noise with two or six speakers at normal vocal effort (Pmusic offers an interesting opportunity for studying masking under realistic conditions, where spectral and temporal features can be varied independently. The results have implications for composing music with vocal parts, designing acoustic environments and creating a balance between speech perception and privacy in social settings.

  9. Everyday trajectories of hearing correction

    DEFF Research Database (Denmark)

    Lykke Hindhede, Anette

    2010-01-01

    wearers in order to rehabilitate them back to ‘normal'. However, within audiological research, noncompliance has attracted much attention as investigations have shown that more than 20 percent of hearing aids are very seldom, if ever, in use and 19 percent are used only occasionally. As shown in the paper...... are complex and epistemologically contested and can help explain why noncompliance is dominant when it comes to hearing rehabilitation for hearing impaired adults....

  10. Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

    Directory of Open Access Journals (Sweden)

    De Keulenaer Sarah

    2012-05-01

    Full Text Available Abstract Background Hereditary hearing loss (HL can originate from mutations in one of many genes involved in the complex process of hearing. Identification of the genetic defects in patients is currently labor intensive and expensive. While screening with Sanger sequencing for GJB2 mutations is common, this is not the case for the other known deafness genes (> 60. Next generation sequencing technology (NGS has the potential to be much more cost efficient. Published methods mainly use hybridization based target enrichment procedures that are time saving and efficient, but lead to loss in sensitivity. In this study we used a semi-automated PCR amplification and NGS in order to combine high sensitivity, speed and cost efficiency. Results In this proof of concept study, we screened 15 autosomal recessive deafness genes in 5 patients with congenital genetic deafness. 646 specific primer pairs for all exons and most of the UTR of the 15 selected genes were designed using primerXL. Using patient specific identifiers, all amplicons were pooled and analyzed using the Roche 454 NGS technology. Three of these patients are members of families in which a region of interest has previously been characterized by linkage studies. In these, we were able to identify two new mutations in CDH23 and OTOF. For another patient, the etiology of deafness was unclear, and no causal mutation was found. In a fifth patient, included as a positive control, we could confirm a known mutation in TMC1. Conclusions We have developed an assay that holds great promise as a tool for screening patients with familial autosomal recessive nonsyndromal hearing loss (ARNSHL. For the first time, an efficient, reliable and cost effective genetic test, based on PCR enrichment, for newborns with undiagnosed deafness is available.

  11. Progressive hearing loss and degeneration of hair cell stereocilia in taperin gene knockout mice

    International Nuclear Information System (INIS)

    Chen, Mo; Wang, Qin; Zhu, Gang-Hua; Hu, Peng; Zhou, Yuan; Wang, Tian; Lai, Ruo-Sha; Xiao, Zi-An; Xie, Ding-Hua

    2016-01-01

    The TPRN gene encodes taperin, which is prominently present at the taper region of hair cell stereocilia. Mutations in TPRN have been reported to cause autosomal recessive nonsyndromic deafness 79(DFNB 79). To investigate the role of taperin in pathogenesis of hearing loss, we generated TPRN knockout mice using TALEN technique. Sanger sequencing confirmed an 11 bp deletion at nucleotide 177–187 in exon 1 of TPRN, which results in a truncated form of taperin protein. Heterozygous TPRN +/− mice showed apparently normal auditory phenotypes to their wide-type (WT) littermates. Homozygous TPRN −/− mice exhibited progressive sensorineural hearing loss as reflected by auditory brainstem response to both click and tone burst stimuli at postnatal days 15 (P15), 30 (P30), and 60 (P60). Alex Fluor-594 phalloidin labeling showed no obvious difference in hair cell numbers in the cochlea between TPRN −/− mice and WT mice under light microscope. However, scanning electronic microscopy revealed progressive degeneration of inner hair cell stereocilia, from apparently normal at postnatal days 3 (P3) to scattered absence at P15 and further to substantial loss at P30. The outer hair cell stereocilia also showed progressive degeneration, though much less severe, Collectively, we conclude that taperin plays an important role in maintenance of hair cell stereocilia. Establishment of TPRN knockout mice enables further investigation into the function of this gene. - Highlights: • TPRN −/− mice were generated using TALEN technique. • TPRN −/− mice presented progressive hearing loss. • WT and TPRN −/− mice showed no difference in hair cell numbers. • TPRN −/− mice showed progressive degeneration of hair cell stereocilia.

  12. Is Hearing Impairment Associated with Rheumatoid Arthritis?

    DEFF Research Database (Denmark)

    Emamifar, Amir; Bjoerndal, Kristine; Jensen Hansen, Inger Marie

    2016-01-01

    BACKGROUND: Rheumatoid arthritis (RA) is a systemic, inflammatory disease that affects 1% of the population. The auditory system may be involved during the course of disease; however the association of RA and hearing impairment has not been clearly defined. OBJECTIVE: The objective of this review...... is to evaluate published clinical reports related to hearing impairment in patients with RA. Furthermore, we discuss possible pathologies and associated factors as well as new treatment modalities. METHOD: A thorough literature search was performed using available databases including Pubmed, Embase, Cochrane...... and ComDisDome to cover all relative reports. The following keywords were used: hearing loss, hearing difficulties, hearing disorders, hearing impairment, sensorineural hearing loss, conductive hearing loss, mixed hearing loss, autoimmune hearing loss, drug ototoxicity, drug-induced hearing loss, hearing...

  13. Anatomic Severity, Midfacial Growth, and Speech Outcomes in Van der Woude/Popliteal Pterygium Syndromes Compared to Nonsyndromic Cleft Lip/Palate.

    Science.gov (United States)

    Reardon, Jeffrey B; Brustowicz, Katherine A; Marrinan, Eileen M; Mulliken, John B; Padwa, Bonnie L

    2015-11-01

    To summarize the clinical characteristics and surgical and speech outcomes for patients with Van der Woude/popliteal pterygium syndromes (VWS/PPS) and to compare them with a historic cohort of patients with nonsyndromic cleft lip/cleft palate (CL/P). Retrospective chart review. Tertiary care center. All patients with VWS/PPS seen at Boston Children's Hospital from 1979 to 2012: 28 patients with VWS (n = 21)/PPS (n = 7) whose mean age was 17.3 ± 10.4 years, including 18 females (64%) and 10 males (36%); 18 patients (64%) had a family history of VWS/PPS. Cleft type, operative procedures, speech, and midfacial growth. Data were compared with historic cohorts of patients with nonsyndromic CL/P treated at one tertiary care center. There were 24 patients (86%) with CP±L, Veau types I (n = 4, 17%), II (n = 4, 17%), III (n = 5, 21%), and IV (n = 11, 46%). Nine patients (38%) had palatal fistula after palatoplasty. Fourteen of 23 (61%) patients with CL/P age 5 years or older had midfacial retrusion, and 10 (43%) required a pharyngeal flap for velopharyngeal insufficiency. Fisher's exact test demonstrated higher frequencies of Veau type IV CP±L (P = .0016), bilateral CL±P (P = .0001), and complete CL±P (P palatal fistula (P clefting and higher incidences of midfacial retrusion, palatal fistula, and velopharyngeal insufficiency following primary repair as compared with nonsyndromic CL/P.

  14. Hearing loss at work? Hearing loss from leisure activities?

    CERN Multimedia

    2006-01-01

    The nurses of the Medical Service would like invite all persons working on the CERN site to take part in a: HEARING LOSS DETECTION WEEK From 28 August to 1st September 2006 At the Infirmary, Building 57 from 9 a.m. to 4 p.m. Hearing tests - advice - information - documentation - protective equipment

  15. 45 CFR 400.23 - Hearings.

    Science.gov (United States)

    2010-10-01

    ... under the Act with an opportunity for a hearing to contest adverse determinations using hearing... issue by inspection of the individual's documentation issued by the Immigration and Naturalization...

  16. Hearing symptoms personal stereos.

    Science.gov (United States)

    da Luz, Tiara Santos; Borja, Ana Lúcia Vieira de Freitas

    2012-04-01

     Practical and portable the personal stereos if had become almost indispensable accessories in the day the day. Studies disclose that the portable players of music can cause auditory damages in the long run for who hear music in high volume for a drawn out time.  to verify the prevalence of auditory symptoms in users of amplified players and to know its habits of use  Observational prospective study of transversal cut carried through in three institutions of education of the city of Salvador BA, being two of public net and one of the private net. 400 students had answered to the questionnaire, of both the sex, between 14 and 30 years that had related the habit to use personal stereos.  The symptoms most prevalent had been hyperacusis (43.5%), auricular fullness (30.5%) and humming (27.5), being that the humming is the symptom most present in the population youngest. How much to the daily habits: 62.3% frequent use, 57% in raised intensities, 34% in drawn out periods. An inverse relation between exposition time was verified and the band of age (p = 0,000) and direct with the prevalence of the humming.  Although to admit to have knowledge on the damages that the exposition the sound of high intensity can cause the hearing, the daily habits of the young evidence the inadequate use of the portable stereos characterized by long periods of exposition, raised intensities, frequent use and preference for the insertion phones. The high prevalence of symptoms after the use suggests a bigger risk for the hearing of these young.

  17. Hearing symptoms personal stereos

    Directory of Open Access Journals (Sweden)

    Tiara Santos da Luz1

    2012-01-01

    Full Text Available Introduction: Practical and portable the personal stereos if had become almost indispensable accessories in the day the day. Studies disclose that the portable players of music can cause auditory damages in the long run for who hear music in high volume for a drawn out time. Objective: to verify the prevalence of auditory symptoms in users of amplified players and to know its habits of use. Method: Observational prospective study of transversal cut carried through in three institutions of education of the city of Salvador BA, being two of public net and one of the private net. 400 students had answered to the questionnaire, of both the sex, between 14 and 30 years that had related the habit to use personal stereos. Results: The symptoms most prevalent had been hyperacusis (43.5%, auricular fullness (30.5% and humming (27.5, being that the humming is the symptom most present in the population youngest. How much to the daily habits: 62.3% frequent use, 57% in raised intensities, 34% in drawn out periods. An inverse relation between exposition time was verified and the band of age (p=0,000 and direct with the prevalence of the humming. Conclusion: Although to admit to have knowledge on the damages that the exposition the sound of high intensity can cause the hearing, the daily habits of the young evidence the inadequate use of the portable stereos characterized by long periods of exposition, raised intensities, frequent use and preference for the insertion phones. The high prevalence of symptoms after the use suggests a bigger risk for the hearing of these young.

  18. Protect Your Hearing at Work

    Centers for Disease Control (CDC) Podcasts

    Noise-induced hearing loss is one of the most common work-related illnesses. This podcast features information from CDC’s National Institute for Occupational Safety and Health on how to protect yourself from work-related noise-induced hearing loss.

  19. Genes and Syndromic Hearing Loss.

    Science.gov (United States)

    Keats, Bronya J. B.

    2002-01-01

    This article provides a description of the human genome and patterns of inheritance and discusses genes that are associated with some of the syndromes for which hearing loss is a common finding, including: Waardenburg, Stickler, Jervell and Lange-Neilsen, Usher, Alport, mitochondrial encephalomyopathy, and sensorineural hearing loss. (Contains…

  20. The Stigma of Hearing Loss

    Science.gov (United States)

    Wallhagen, Margaret I.

    2010-01-01

    Purpose: To explore dimensions of stigma experienced by older adults with hearing loss and those with whom they frequently communicate to target interventions promoting engagement and positive aging. Design and Methods: This longitudinal qualitative study conducted interviews over 1 year with dyads where one partner had hearing loss. Participants…

  1. Age-Related Hearing Loss

    Science.gov (United States)

    ... 29, 2017 Granicus - Health Topics Languages Español Download PDF version Order free publications Find organizations Syndicate content Related Topics Do You Need a Hearing Test? Hearing Loss and Older Adults News Spatial organization of cells in the inner ear enables the sense and ...

  2. A Hearing Aid Primer 1

    Science.gov (United States)

    Yetter, Carol J.

    2009-01-01

    This hearing aid primer is designed to define the differences among the three levels of hearing instrument technology: conventional analog circuit technology (most basic), digitally programmable/analog circuit technology (moderately advanced), and fully digital technology (most advanced). Both moderate and advanced technologies mean that hearing…

  3. Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family.

    Science.gov (United States)

    Ma, Yalin; Xiao, Yun; Zhang, Fengguo; Han, Yuechen; Li, Jianfeng; Xu, Lei; Bai, Xiaohui; Wang, Haibo

    2016-04-01

    Mutations in MYO7A gene have been reported to be associated with Usher Syndrome type 1B (USH1B) and nonsyndromic hearing loss (DFNB2, DFNA11). Most mutations in MYO7A gene caused USH1B, whereas only a few reported mutations led to DFNB2 and DFNA11. The current study was designed to investigate the mutations among a Chinese family with autosomal recessive hearing loss. In this study, we present the clinical, genetic and molecular characteristics of a Chinese family. Targeted capture of 127 known deafness genes and next-generation sequencing were employed to study the genetic causes of two siblings in the Chinese family. Sanger sequencing was employed to examine those variant mutations in the members of this family and other ethnicity-matched controls. We identified the novel compound heterozygous mutant alleles of MYO7A gene: a novel missense mutation c.3671C>A (p.A1224D) and a reported insert mutation c.390_391insC (p.P131PfsX9). Variants were further confirmed by Sanger sequencing. These two compound heterozygous variants were co-segregated with autosomal recessive hearing loss phenotype. The gene mutation analysis and protein sequence alignment further supported that the novel compound heterozygous mutations were pathogenic. The novel compound heterozygous mutations (c.3671C>A and c.390_391insC) in MYO7A gene identified in this study were responsible for the autosomal recessive sensorineural hearing loss of this Chinese family. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  4. POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.

    Directory of Open Access Journals (Sweden)

    Tomohiro Kitano

    Full Text Available A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic hereditary hearing loss, DFNA15. To date, 14 variants, including a whole deletion of POU4F3, have been reported to cause HL in various ethnic groups. In the present study, genetic screening for POU4F3 variants was carried out for a large series of Japanese hearing loss (HL patients to clarify the prevalence and clinical characteristics of DFNA15 in the Japanese population. Massively parallel DNA sequencing of 68 target candidate genes was utilized in 2,549 unrelated Japanese HL patients (probands to identify genomic variations responsible for HL. The detailed clinical features in patients with POU4F3 variants were collected from medical charts and analyzed. Novel 12 POU4F3 likely pathogenic variants (six missense variants, three frameshift variants, and three nonsense variants were successfully identified in 15 probands (2.5% among 602 families exhibiting autosomal dominant HL, whereas no variants were detected in the other 1,947 probands with autosomal recessive or inheritance pattern unknown HL. To obtain the audiovestibular configuration of the patients harboring POU4F3 variants, we collected audiograms and vestibular symptoms of the probands and their affected family members. Audiovestibular phenotypes in a total of 24 individuals from the 15 families possessing variants were characterized by progressive HL, with a large variation in the onset age and severity with or without vestibular symptoms observed. Pure-tone audiograms indicated the most prevalent configuration as mid-frequency HL type followed by high-frequency HL type, with asymmetry observed in approximately 20% of affected individuals. Analysis of the relationship between age and pure-tone average suggested that individuals with truncating variants showed earlier onset and slower progression of HL than did those with non-truncating variants. The present study showed that variants

  5. Relationship between hearing complaint and hearing loss among older people

    Directory of Open Access Journals (Sweden)

    Teixeira, Adriane Ribeiro

    2009-03-01

    Full Text Available Introduction: Presbycusis is a public health problem. Despite its high prevalence, many elders do not have their hearing ability investigated periodically, because they do not have a specific complaint. Objective: To check whether there is a relationship between the complaint and the presence of hearing loss in elder people. Method: Transversal study in elders from a neighborhood in the city of Canoas, Rio Grande do Sul. After the definition of the neighborhood's geographic boundaries, all houses were visited, the older people's addresses were ascertained and the invitations to take part in the research were provided. A questionnaire survey was applied which had a question about hearing loss complaint and air-conducted hearing thresholds were obtained and studied. Out of the 72 identified elders 50 elders agreed to participate, 35 (70% women, and 15 (30% men. Results: It was confirmed that only 12 (24% elders showed a specific complaint of hearing loss, although 33 (66% elders showed slight, moderate, severe and profound hearing losses. Conclusion: Data analysis confirmed there was no relationship between the complaint and the presence of hearing loss in the assessed group, and demonstrated the need to forward the elders for audiological evaluation even without any specific complaint.

  6. Analysis of GLUT-1, GLUT-3, and angiogenic index in syndromic and non-syndromic keratocystic odontogenic tumors

    Directory of Open Access Journals (Sweden)

    Rafaella Bastos LEITE

    2017-04-01

    Full Text Available Abstract The aim of this study was to evaluate the immunoexpression of glucose transporters 1 (GLUT-1 and 3 (GLUT-3 in keratocystic odontogenic tumors associated with Gorlin syndrome (SKOTs and non-syndromic keratocystic odontogenic tumors (NSKOTs, and to establish correlations with the angiogenic index. Seventeen primary NSKOTs, seven recurrent NSKOTs, and 17 SKOTs were selected for the study. The percentage of immunopositive cells for GLUT-1 and GLUT-3 in the epithelial component of the tumors was assessed. The angiogenic index was determined by microvessel count. The results were analyzed statistically using the nonparametric Kruskal-Wallis test and Spearman’s correlation test. High epithelial immunoexpression of GLUT-1 was observed in most tumors (p = 0.360. There was a higher frequency of negative cases for GLUT-3 in all groups. The few GLUT-3-positive tumors exhibited low expression of this protein in epithelial cells. No significant difference in the angiogenic index was observed between groups (p = 0.778. GLUT-1 expression did not correlate significantly with the angiogenic index (p > 0.05. The results suggest that the more aggressive biological behavior of SKOTs when compared to NSKOTs may not be related to GLUT-1 or GLUT-3 expression. GLUT-1 may play an important role in glucose uptake by epithelial cells of KOTs and this process is unlikely related to the angiogenic index. GLUT-1 could be a potential target for future development of therapeutic strategies for KOTs.

  7. SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct

    Directory of Open Access Journals (Sweden)

    Zhao Jiandong

    2012-05-01

    Full Text Available Abstract Background Many patients with enlarged vestibular aqueduct (EVA have either only one allelic mutant of the SLC26A4 gene or lack any detectable mutation. In this study, multiplex ligation-dependent probe amplification (MLPA was used to screen for copy number variations (CNVs of SLC26A4 and to reveal the pathogenic mechanisms of non-syndromic EVA (NSEVA. Methods Between January 2003 and March 2010, 923 Chinese patients (481 males, 442 females with NSEVA were recruited. Among these, 68 patients (7.4% were found to carry only one mutant allele of SLC26A4 and 39 patients (4.2% lacked any detectable mutation in SLC26A4; these 107 patients without double mutant alleles were assigned to the patient group. Possible copy number variations in SLC26A4 were detected by SALSA MLPA. Results Using GeneMapper, no significant difference was observed between the groups, as compared with the standard probe provided in the assay. The results of the capillary electrophoresis showed no significant difference between the patients and controls. Conclusion Our results suggest that CNVs and the exon deletion in SLC26A4 are not important factors in NSEVA. However, it would be premature to conclude that CNVs have no role in EVA. Genome-wide studies to explore CNVs within non-coding regions of the SLC26A4 gene and neighboring regions are warranted, to elucidate their roles in NSEVA etiology.

  8. [Association of muscle segment homeobox gene 1 polymorphisms with nonsyndromic cleft lip with or without cleft palate].

    Science.gov (United States)

    Zhang, Li; Tang, Jun-Ling; Liang, Shang-Zheng

    2008-06-01

    Muscle segment homeobox gene (MSX)1 has been proposed as a gene in which mutations may contribute to nonsyndromic cleft lip with or without cleft palate (NSCL/P). To study MSX1 polymorphisms in NSCL/ P by means of polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP), and investigate the association of MSX1 exons 1 polymorphisms with NSCL/P. DNA were extracted from blood samples from NSCL/P and unrelated normal subjects. Genome DNA from peripheral leukocyte with these blood samples were extracted, which was used as template to amplify desired gene fragment of MSX1 exons 1 by means of polymerase chain reaction (PCR). The PCR products were examined by single-strand conformation polymorphism (SSCP). The MSX1 exons 1 polymorphisms were examined by sequencing if mutations were found. MSX1 genes of exon 1 mutation was not been found in the NSCL/P and unrelated normal subjects by SSCP. No correlation between MSX1 exon 1 and NSCL/P was found. MSX1 exon 1 may not be a key gene (susceptibility gene) in NSCL/P.

  9. Linkage study of nonsyndromic cleft lip with or without cleft palate using candidate genes and mapped polymorphic markers

    Energy Technology Data Exchange (ETDEWEB)

    Stein, J.D.; Nelson, L.D.; Conner, B.J. [Univ. of Texas, Houston (United States)] [and others

    1994-09-01

    Nonsyndromic cleft lip with or without cleft palate (CL(P)) involves fusion or growth failure of facial primordia during development. Complex segregation analysis of clefting populations suggest that an autosomal dominant gene may play a role in this common craniofacial disorder. We have ascertained 16 multigenerational families with CL(P) and tested linkage to 29 candidate genes and 139 mapped short tandem repeat markers. The candidate genes were selected based on their expression in craniofacial development or were identified through murine models. These include: TGF{alpha}, TGF{beta}1, TGF{beta}2, TGF{beta}3, EGF, EGFR, GRAS, cMyc, FGFR, Jun, JunB, PDFG{alpha}, PDGF{beta}, IGF2R, GCR Hox7, Hox8, Hox2B, twirler, 5 collagen and 3 extracellular matrix genes. Linkage was tested assuming an autosomal dominant model with sex-specific decreased penetrance. Linkage to all of the candidate loci was excluded in 11 families. RARA was tested and was not informative. However, haplotype analysis of markers flanking RARA on 17q allowed exclusion of this candidate locus. We have previously excluded linkage to 61 STR markers in 11 families. Seventy-eight mapped short tandem repeat markers have recently been tested in 16 families and 30 have been excluded. The remaining are being analyzed and an exclusion map is being developed based on the entire study results.

  10. Nonsyndromic cleft lip with or without cleft palate: Evidence of linkage to BCL3 in 17 multigenerational families

    Energy Technology Data Exchange (ETDEWEB)

    Stein, J.; Hecht, T. [Univ. of Texas, Houston, TX (United States); Stal, S. [Texas Children`s Hospital, Houston, TX (United States)] [and others

    1995-08-01

    Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial developmental defect. Recent segregation analyses have suggested that major genes play a role in the etiology of CL/P. Linkage to 22 candidate genes was tested in 11 multigenerational families with CL/P, and 21 of these candidates were excluded. APOC2, 19q13.1, which is linked to the proto-oncogene BCL3, gave suggestive evidence for linkage to CL/P. The study was expanded to include a total of 39 multigenerational CL/P families. Linkage was tested in all families, using anonymous marker, D19S178, and intragenic markers in BCL3 and APOC2. Linkage was tested under two models, autosomal dominant with reduced penetrance and affecteds-only model. Both models showed evidence of heterogeneity, with 43% of families linked at zero recombination to BCL3 when marker data from BCL3 and APOC2 were included. A maximum multipoint LOD score of 7.00 at BCL3 was found among the 17 families that had posterior probabilities {ge}50% in favor of linkage. The transmission disequilibrium test provided additional evidence for linkage with the 3 allele of BCL3 more often transmitted to affected children. These results suggest that BCL3, or a nearby gene, plays a role in the etiology of CL/P in some families. 39 refs., 8 figs., 4 tabs.

  11. Possible linkage of non-syndromic cleft lip and palate to the MSX1 homebox gene on chromosome 4p

    Energy Technology Data Exchange (ETDEWEB)

    Wang, S.; Walczak, C.; Erickson, R.P.

    1994-09-01

    The MSX1 (HOX7) gene has been shown recently to cause cleft palate in a mouse model deficient for its product. Several features of this mouse model make the human homolog of this gene an excellent candidate for non-syndromic cleft palate. We tested this hypothesis by linkage studies in two large multiplex human families using a microsatellite marker in the human MSX1 gene. A LOD score of 1.7 was obtained maximizing at a recombination fraction of 0.09. Computer simulation power calculations using the program SIMLINK indicated that a LOD score this large is expected to occur only about 1/200 times by chance alone for a marker locus with comparable informativeness if unlinked to the disease gene. This suggestive finding is being followed up by attempts to recruit and study additional families and by DNA sequence analyses of the MSX1 gene in these families and other cleft lip and/or cleft palate subjects and these further results will also be reported.

  12. Novel mutation of GATA4 gene in Kurdish population of Iran with nonsyndromic congenital heart septals defects.

    Science.gov (United States)

    Soheili, Fariborz; Jalili, Zahra; Rahbar, Mahtab; Khatooni, Zahed; Mashayekhi, Amir; Jafari, Hossein

    2018-03-01

    The mutations in GATA4 gene induce inherited atrial and ventricular septation defects, which is the most frequent forms of congenital heart defects (CHDs) constituting about half of all cases. We have performed High resolution melting (HRM) mutation scanning of GATA4 coding exons of nonsyndrome 100 patients as a case group including 39 atrial septal defects (ASD), 57 ventricular septal defects (VSD) and four patients with both above defects and 50 healthy individuals as a control group. Our samples are categorized according to their HRM graph. The genome sequencing has been done for 15 control samples and 25 samples of patients whose HRM analysis were similar to healthy subjects for each exon. The PolyPhen-2 and MUpro have been used to determine the causative possibility and structural stability prediction of GATA4 sequence variation. The HRM curve analysis exhibit that 21 patients and 3 normal samples have deviated curves for GATA4 coding exons. Sequencing analysis has revealed 12 nonsynonymous mutations while all of them resulted in stability structure of protein 10 of them are pathogenic and 2 of them are benign. Also we found two nucleotide deletions which one of them was novel and one new indel mutation resulting in frame shift mutation, and 4 synonymous variations or polymorphism in 6 of patients and 3 of normal individuals. Six or about 50% of these nonsynonymous mutations have not been previously reported. Our results show that there is a spectrum of GATA4 mutations resulting in septal defects. © 2018 Wiley Periodicals, Inc.

  13. Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.

    Science.gov (United States)

    Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R; Buxó, Carmen J; Castilla, Eduardo E; Christensen, Kaare; Deleyiannis, Frederic W B; Field, Leigh L; Hecht, Jacqueline T; Moreno, Lina; Orioli, Ieda M; Padilla, Carmencita; Vieira, Alexandre R; Wehby, George L; Feingold, Eleanor; Weinberg, Seth M; Murray, Jeffrey C; Marazita, Mary L

    2017-06-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. Although genome-wide association studies have successfully identified a number of risk loci, these loci only account for about 20% of the heritability of orofacial clefts. The "missing" heritability may be found in rare variants, copy number variants, or interactions. In this study, we investigated the role of low-frequency variants genotyped in 1995 cases and 1626 controls on the Illumina HumanCore + Exome chip. We performed two statistical tests, Sequence Kernel Association Test (SKAT) and Combined Multivariate and Collapsing (CMC) method using two minor allele frequency cutoffs (1% and 5%). We found that a burden of low-frequency coding variants in N4BP2, CDSN, PRTG, and AHRR were associated with increased risk of NSCL/P. Low-frequency variants in other genes were associated with decreased risk of NSCL/P. These results demonstrate that low-frequency variants contribute to the genetic etiology of NSCL/P. © 2017 Wiley Periodicals, Inc.

  14. Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

    Science.gov (United States)

    Heidari, Abolfazl; Tongsook, Chanakan; Najafipour, Reza; Musante, Luciana; Vasli, Nasim; Garshasbi, Masoud; Hu, Hao; Mittal, Kirti; McNaughton, Amy J M; Sritharan, Kumudesh; Hudson, Melissa; Stehr, Henning; Talebi, Saeid; Moradi, Mohammad; Darvish, Hossein; Arshad Rafiq, Muhammad; Mozhdehipanah, Hossein; Rashidinejad, Ali; Samiei, Shahram; Ghadami, Mohsen; Windpassinger, Christian; Gillessen-Kaesbach, Gabriele; Tzschach, Andreas; Ahmed, Iltaf; Mikhailov, Anna; Stavropoulos, D James; Carter, Melissa T; Keshavarz, Soraya; Ayub, Muhammad; Najmabadi, Hossein; Liu, Xudong; Ropers, Hans Hilger; Macheroux, Peter; Vincent, John B

    2015-10-15

    Histamine (HA) acts as a neurotransmitter in the brain, which participates in the regulation of many biological processes including inflammation, gastric acid secretion and neuromodulation. The enzyme histamine N-methyltransferase (HNMT) inactivates HA by transferring a methyl group from S-adenosyl-l-methionine to HA, and is the only well-known pathway for termination of neurotransmission actions of HA in mammalian central nervous system. We performed autozygosity mapping followed by targeted exome sequencing and identified two homozygous HNMT alterations, p.Gly60Asp and p.Leu208Pro, in patients affected with nonsyndromic autosomal recessive intellectual disability from two unrelated consanguineous families of Turkish and Kurdish ancestry, respectively. We verified the complete absence of a functional HNMT in patients using in vitro toxicology assay. Using mutant and wild-type DNA constructs as well as in silico protein modeling, we confirmed that p.Gly60Asp disrupts the enzymatic activity of the protein, and that p.Leu208Pro results in reduced protein stability, resulting in decreased HA inactivation. Our results highlight the importance of inclusion of HNMT for genetic testing of individuals presenting with intellectual disability. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  15. Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

    Science.gov (United States)

    Heidari, Abolfazl; Tongsook, Chanakan; Najafipour, Reza; Musante, Luciana; Vasli, Nasim; Garshasbi, Masoud; Hu, Hao; Mittal, Kirti; McNaughton, Amy J. M.; Sritharan, Kumudesh; Hudson, Melissa; Stehr, Henning; Talebi, Saeid; Moradi, Mohammad; Darvish, Hossein; Arshad Rafiq, Muhammad; Mozhdehipanah, Hossein; Rashidinejad, Ali; Samiei, Shahram; Ghadami, Mohsen; Windpassinger, Christian; Gillessen-Kaesbach, Gabriele; Tzschach, Andreas; Ahmed, Iltaf; Mikhailov, Anna; Stavropoulos, D. James; Carter, Melissa T.; Keshavarz, Soraya; Ayub, Muhammad; Najmabadi, Hossein; Liu, Xudong; Ropers, Hans Hilger; Macheroux, Peter; Vincent, John B.

    2015-01-01

    Histamine (HA) acts as a neurotransmitter in the brain, which participates in the regulation of many biological processes including inflammation, gastric acid secretion and neuromodulation. The enzyme histamine N-methyltransferase (HNMT) inactivates HA by transferring a methyl group from S-adenosyl-l-methionine to HA, and is the only well-known pathway for termination of neurotransmission actions of HA in mammalian central nervous system. We performed autozygosity mapping followed by targeted exome sequencing and identified two homozygous HNMT alterations, p.Gly60Asp and p.Leu208Pro, in patients affected with nonsyndromic autosomal recessive intellectual disability from two unrelated consanguineous families of Turkish and Kurdish ancestry, respectively. We verified the complete absence of a functional HNMT in patients using in vitro toxicology assay. Using mutant and wild-type DNA constructs as well as in silico protein modeling, we confirmed that p.Gly60Asp disrupts the enzymatic activity of the protein, and that p.Leu208Pro results in reduced protein stability, resulting in decreased HA inactivation. Our results highlight the importance of inclusion of HNMT for genetic testing of individuals presenting with intellectual disability. PMID:26206890

  16. Birth prevalence of non-syndromic orofacial clefts in Saudi Arabia and the effects of parental consanguinity

    Science.gov (United States)

    Sabbagh, Heba J.; Innes, Nicola P.; Sallout, Bahauddin I.; Alamoudi, Najlaa M.; Hamdan, Mustafa A.; Alhamlan, Nasir; Al-Khozami, Amaal I.; Abdulhameed, Fatma D.; Al-Aama, Jumana Y.; Mossey, Peter A.

    2015-01-01

    Objectives: To describe the characteristics and prevalence of non-syndromic orofacial clefting (NSOFC) and assess the effects of parental consanguinity on NSOFC phenotypes in the 3 main cities of Saudi Arabia. Methods: All infants (114,035) born at 3 referral centers in Riyadh, and 6 hospitals in Jeddah and Madinah between January 2010 and December 2011 were screened. The NSOFC cases (n=133) were identified and data was collected through clinical examination and records, and information on consanguinity through parent interviews. The diagnosis was confirmed by reviewing medical records and contacting the infants’ pediatricians. Control infants (n=233) matched for gender and born in the same hospitals during the same period, were selected. Results: The prevalence of NSOFC was 1.07/1000 births in Riyadh, and 1.17/1000 births overall; cleft lip (CL) was 0.47/1000 births, cleft lip and palate (CLP) was 0.42/1000 births, and cleft palate (CP) was 0.28/1000 births. Cleft palate was significantly associated with consanguinity (p=0.047, odds ratio: 2.5, 95% confidence interval: 1 to 6.46), particularly for first cousin marriages. Conclusion: The birth prevalence of NSOFC in Riyadh alone, and in the 3 main cities of Saudi Arabia were marginally lower than the mean global prevalence. While birth prevalence for CLP was comparable to global figures, the CL:CLP ratio was high, and only CP was significantly associated with consanguinity. PMID:26318465

  17. Birth prevalence of non-syndromic orofacial clefts in Saudi Arabia and the effects of parental consanguinity

    Directory of Open Access Journals (Sweden)

    Heba J. Sabbagh

    2015-09-01

    Full Text Available Objectives: To describe the characteristics and prevalence of non-syndromic orofacial clefting (NSOFC and assess the effects of parental consanguinity on NSOFC phenotypes in the 3 main cities of Saudi Arabia. Methods: All infants (114,035 born at 3 referral centers in Riyadh, and 6 hospitals in Jeddah and Madinah between January 2010 and December 2011 were screened. The NSOFC cases (n=133 were identified and data was collected through clinical examination and records, and information on consanguinity through parent interviews. The diagnosis was confirmed by reviewing medical records and contacting the infants’ pediatricians. Control infants (n=233 matched for gender and born in the same hospitals during the same period, were selected. Results: The prevalence of NSOFC was 1.07/1000 births in Riyadh, and 1.17/1000 births overall; cleft lip (CL was 0.47/1000 births, cleft lip and palate (CLP was 0.42/1000 births, and cleft palate (CP was 0.28/1000 births. Cleft palate was significantly associated with consanguinity (p=0.047, odds ratio: 2.5, 95% confidence interval: 1 to 6.46, particularly for first cousin marriages. Conclusion: The birth prevalence of NSOFC in Riyadh alone, and in the 3 main cities of Saudi Arabia were marginally lower than the mean global prevalence. While birth prevalence for CLP was comparable to global figures, the CL:CLP ratio was high, and only CP was significantly associated with consanguinity.

  18. Dental anomalies inside the cleft region in individuals with nonsyndromic cleft lip with or without cleft palate.

    Science.gov (United States)

    Sá, Jamile; Araújo, Luana; Guimarães, Laís; Maranhão, Samário; Lopes, Gabriela; Medrado, Alena; Coletta, Ricardo; Reis, Silvia

    2016-01-01

    Individuals with nonsyndromic cleft lip with or without cleft palate (NSCL±P) present high frequency of dental anomalies, which may represent complicating factors for dental treatment. The aim of this study was to investigate the prevalence of dental anomalies inside cleft area in a group of Brazilians with NSCL±P. Retrospective analysis of 178 panoramic radiographs of patients aged from 12 to 45 years old and without history of tooth extraction or orthodontic treatment was performed. Association between cleft type and the prevalence of dental anomalies was assessed by chi-square test with a significance level set at p≤ 0.05. Dental anomalies were found in 88.2% (n=157) of the patients. Tooth agenesis (47.1%), giroversion (20%) and microdontia (15.5%) were the most common anomalies. Individuals with unilateral complete cleft lip and palate (CLP, pdental anomalies inside cleft region in NSCL±P patients, and further demonstrated that patients with unilateral complete CLP and bilateral incomplete CLP were frequently more affected by dental anomalies. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning of individuals affected by NSCL±P.

  19. Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.

    Directory of Open Access Journals (Sweden)

    Jun Yang

    2010-05-01

    Full Text Available Mutations in whirlin cause either Usher syndrome type II (USH2, a deafness-blindness disorder, or nonsyndromic deafness. The molecular basis for the variable disease expression is unknown. We show here that only the whirlin long isoform, distinct from a short isoform by virtue of having two N-terminal PDZ domains, is expressed in the retina. Both long and short isoforms are expressed in the inner ear. The N-terminal PDZ domains of the long whirlin isoform mediates the formation of a multi-protein complex that includes usherin and VLGR1, both of which are also implicated in USH2. We localized this USH2 protein complex to the periciliary membrane complex (PMC in mouse photoreceptors that appears analogous to the frog periciliary ridge complex. The latter is proposed to play a role in photoreceptor protein trafficking through the connecting cilium. Mice carrying a targeted disruption near the N-terminus of whirlin manifest retinal and inner ear defects, reproducing the clinical features of human USH2 disease. This is in contrast to mice with mutations affecting the C-terminal portion of whirlin in which the phenotype is restricted to the inner ear. In mice lacking any one of the USH2 proteins, the normal localization of all USH2 proteins is disrupted, and there is evidence of protein destabilization. Taken together, our findings provide new insights into the pathogenic mechanism of Usher syndrome. First, the three USH2 proteins exist as an obligatory functional complex in vivo, and loss of one USH2 protein is functionally close to loss of all three. Second, defects in the three USH2 proteins share a common pathogenic process, i.e., disruption of the PMC. Third, whirlin mutations that ablate the N-terminal PDZ domains lead to Usher syndrome, but non-syndromic hearing loss will result if they are spared.

  20. Treatment Efficacy: Hearing Aids in the Management of Hearing Loss in Adults.

    Science.gov (United States)

    Weinstein, Barbara E.

    1996-01-01

    This article reviews the efficacy of hearing aids in adults with hearing impairments. Information is provided on the prevalence of hearing impairments; the daily effects of a hearing impairment; and the role of the audiologist. The effectiveness and benefits of hearing aids are reviewed, and a case study is provided. (CR)

  1. Early Hearing Detection and Intervention: Can Your Baby Hear?

    Centers for Disease Control (CDC) Podcasts

    2007-06-15

    This podcast discusses how important it is that every child receives a hearing screening as soon as possible after birth. It also gives specific ways that parents and health providers can find out if a child has a possible hearing loss and where to get further information. (Created 6/5/2007 by the Early Hearing Detection and Intervention Program, NCBDDD).  Created: 6/15/2007 by National Center on Birth Defects and Developmental Disabilities.   Date Released: 6/25/2007.

  2. Hearing aid fitting in older persons with hearing impairment: the influence of cognitive function, age, and hearing loss on hearing aid benefit.

    Science.gov (United States)

    Meister, Hartmut; Rählmann, Sebastian; Walger, Martin; Margolf-Hackl, Sabine; Kießling, Jürgen

    2015-01-01

    To examine the association of cognitive function, age, and hearing loss with clinically assessed hearing aid benefit in older hearing-impaired persons. Hearing aid benefit was assessed using objective measures regarding speech recognition in quiet and noisy environments as well as a subjective measure reflecting everyday situations captured using a standardized questionnaire. A broad range of general cognitive functions such as attention, memory, and intelligence were determined using different neuropsychological tests. Linear regression analyses were conducted with the outcome of the neuropsychological tests as well as age and hearing loss as independent variables and the benefit measures as dependent variables. Thirty experienced older hearing aid users with typical age-related hearing impairment participated. Most of the benefit measures revealed that the participants obtained significant improvement with their hearing aids. Regression models showed a significant relationship between a fluid intelligence measure and objective hearing aid benefit. When individual hearing thresholds were considered as an additional independent variable, hearing loss was the only significant contributor to the benefit models. Lower cognitive capacity - as determined by the fluid intelligence measure - was significantly associated with greater hearing loss. Subjective benefit could not be predicted by any of the variables considered. The present study does not give evidence that hearing aid benefit is critically associated with cognitive function in experienced hearing aid users. However, it was found that lower fluid intelligence scores were related to higher hearing thresholds. Since greater hearing loss was associated with a greater objective benefit, these results strongly support the advice of using hearing aids regardless of age and cognitive function to counter hearing loss and the adverse effects of age-related hearing impairment. Still, individual cognitive capacity might

  3. 40 CFR 791.30 - Hearing procedures.

    Science.gov (United States)

    2010-07-01

    ... officer may deem necessary to an understanding and determination of the dispute. The hearing officer shall... 40 Protection of Environment 31 2010-07-01 2010-07-01 true Hearing procedures. 791.30 Section 791... (CONTINUED) DATA REIMBURSEMENT Hearing Procedures § 791.30 Hearing procedures. (a) Representation by counsel...

  4. 21 CFR 60.44 - Hearing procedures.

    Science.gov (United States)

    2010-04-01

    ... RESTORATION Due Diligence Hearings § 60.44 Hearing procedures. The due diligence hearing shall be conducted in accordance with this part, supplemented by the nonconflicting procedures in part 16. During the due diligence... requesting a hearing under part 16. The standard of due diligence set forth in § 60.36 will apply in the due...

  5. 45 CFR 33.6 - Hearings.

    Science.gov (United States)

    2010-10-01

    ... adjudication and need not take the form of an evidentiary hearing, i.e., the rules of evidence need not apply... information developed at the hearing, as soon as practicable after the hearing, but not later than sixty (60) days after the date on which the hearing petition was received by the creditor agency, unless the...

  6. 45 CFR 1179.5 - Hearing.

    Science.gov (United States)

    2010-10-01

    ... 45 Public Welfare 3 2010-10-01 2010-10-01 false Hearing. 1179.5 Section 1179.5 Public Welfare... ENDOWMENT FOR THE HUMANITIES SALARY OFFSET § 1179.5 Hearing. (a) Request for hearing. (1) An employee must file a petition for a hearing in accordance with the instructions outlined in the agency's notice to...

  7. 78 FR 56951 - Notice of Hearing

    Science.gov (United States)

    2013-09-16

    ... No. 6] Notice of Hearing ACTION: Notice of a hearing. SUMMARY: The Privacy and Civil Liberties Oversight Board (PCLOB) will conduct a public hearing with current and former government officials and... federal government regarding the government's counterterrorism surveillance programs. This hearing will...

  8. 45 CFR 1606.8 - Hearing.

    Science.gov (United States)

    2010-10-01

    ... 45 Public Welfare 4 2010-10-01 2010-10-01 false Hearing. 1606.8 Section 1606.8 Public Welfare... PROCEDURES; RECOMPETITION § 1606.8 Hearing. (a) The recipient may make written request for a hearing within... days after receipt of a request for a hearing, the Corporation shall notify the recipient in writing of...

  9. 19 CFR 207.66 - Hearing.

    Science.gov (United States)

    2010-04-01

    ... 19 Customs Duties 3 2010-04-01 2010-04-01 false Hearing. 207.66 Section 207.66 Customs Duties... EXPORTS TO THE UNITED STATES Five-Year Reviews § 207.66 Hearing. (a) In general. The Commission shall hold a hearing in each full review. The date of the hearing shall be specified in the scheduling notice...

  10. 29 CFR 2200.209 - Hearing.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 9 2010-07-01 2010-07-01 false Hearing. 2200.209 Section 2200.209 Labor Regulations... Simplified Proceedings § 2200.209 Hearing. (a) Procedures. As soon as practicable after the conclusion of the pre-hearing conference, the Judge will hold a hearing on any issue that remains in dispute. The...

  11. 10 CFR 2.1405 - Hearing.

    Science.gov (United States)

    2010-01-01

    ... 10 Energy 1 2010-01-01 2010-01-01 false Hearing. 2.1405 Section 2.1405 Energy NUCLEAR REGULATORY... with Oral Hearings § 2.1405 Hearing. (a) No later than twenty (20) days after the conclusion of the prehearing conference, the presiding officer shall hold a hearing on any contention that remains in dispute...

  12. 5 CFR 831.1106 - Hearing.

    Science.gov (United States)

    2010-01-01

    ... 5 Administrative Personnel 2 2010-01-01 2010-01-01 false Hearing. 831.1106 Section 831.1106...) RETIREMENT Prohibition on Payments of Annuities § 831.1106 Hearing. (a) OPM's hearing examiner shall preside at any hearing held pursuant to this subpart, unless OPM designates another presiding officer. The...

  13. 15 CFR 90.14 - Hearing.

    Science.gov (United States)

    2010-01-01

    ... 15 Commerce and Foreign Trade 1 2010-01-01 2010-01-01 false Hearing. 90.14 Section 90.14 Commerce... OF COMMERCE PROCEDURE FOR CHALLENGING CERTAIN POPULATION AND INCOME ESTIMATES § 90.14 Hearing. (a) The hearing shall be conducted by the same hearing officer who collected the documentary evidence, if...

  14. 5 CFR 1639.23 - Hearing.

    Science.gov (United States)

    2010-01-01

    ... 5 Administrative Personnel 3 2010-01-01 2010-01-01 false Hearing. 1639.23 Section 1639.23... Hearing. (a) Request for hearing. Except as provided in paragraph (b) of this section, an employee who desires a hearing concerning the existence or amount of the debt or the proposed offset schedule must send...

  15. 29 CFR 101.34 - Hearing.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 2 2010-07-01 2010-07-01 false Hearing. 101.34 Section 101.34 Labor Regulations Relating... Section 10(k) of the Act § 101.34 Hearing. If the parties have not adjusted the dispute or agreed upon methods of voluntary adjustment, a hearing, usually open to the public, is held before a hearing officer...

  16. 45 CFR 607.5 - Hearing.

    Science.gov (United States)

    2010-10-01

    ... 45 Public Welfare 3 2010-10-01 2010-10-01 false Hearing. 607.5 Section 607.5 Public Welfare Regulations Relating to Public Welfare (Continued) NATIONAL SCIENCE FOUNDATION SALARY OFFSET § 607.5 Hearing. (a) Request for hearing. (1) An employee may file a petition for an oral or paper hearing in...

  17. 7 CFR 900.115 - Hearing.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 8 2010-01-01 2010-01-01 false Hearing. 900.115 Section 900.115 Agriculture... Hearing. (a) The arbitrator shall have full discretion to conduct the hearing in such manner as will, in..., and other experts. (h) When more than two arbitrators are designated to hear a dispute, and they...

  18. 75 FR 67145 - Sunshine Act: Public Hearing

    Science.gov (United States)

    2010-11-01

    ... OVERSEAS PRIVATE INVESTMENT CORPORATION Sunshine Act: Public Hearing TIME AND DATE: 2 p.m... Avenue, NW., Washington, DC. STATUS: Hearing open to the Public at 2 p.m. PURPOSE: Public Hearing in... hearing orally must provide advance notice to OPIC's Corporate Secretary no later than 5 p.m. Thursday...

  19. 47 CFR 1.1928 - Hearing.

    Science.gov (United States)

    2010-10-01

    ... 47 Telecommunication 1 2010-10-01 2010-10-01 false Hearing. 1.1928 Section 1.1928... United States Salary Offset-Individual Debt § 1.1928 Hearing. (a) Petition for hearing. (1) An employee may request a hearing by filing a written petition with the Managing Director of the Commission, or...

  20. 12 CFR 308.142 - Hearing.

    Science.gov (United States)

    2010-01-01

    ... 12 Banks and Banking 4 2010-01-01 2010-01-01 false Hearing. 308.142 Section 308.142 Banks and... Exchange Act of 1934 § 308.142 Hearing. (a) Proceedings are informal. Formal rules of evidence, the... Local Rules shall not apply to hearings under this subpart. (b) Hearing Procedure. (1) Parties to the...

  1. 19 CFR 354.12 - Hearing.

    Science.gov (United States)

    2010-04-01

    ... 19 Customs Duties 3 2010-04-01 2010-04-01 false Hearing. 354.12 Section 354.12 Customs Duties... ANTIDUMPING OR COUNTERVAILING DUTY ADMINISTRATIVE PROTECTIVE ORDER § 354.12 Hearing. (a) Scheduling of hearing. The presiding official will schedule the hearing at a reasonable time, date, and place, which will be...

  2. 75 FR 16422 - Notice of Public Hearing

    Science.gov (United States)

    2010-04-01

    ... documents other than rules #0;or proposed rules that are applicable to the public. Notices of hearings #0... Hearing AGENCY: Financial Crisis Inquiry Commission. ACTION: Notice. SUMMARY: The Financial Crisis Inquiry Commission (FCIC) announces that it will hear from public and private sector entities in a hearing titled...

  3. 76 FR 68260 - Notice of Public Hearing

    Science.gov (United States)

    2011-11-03

    ... of Public Hearing The Marquette Rail, LLC (MQT), by a May 23, 2011, document, has petitioned the... Railroad Signalmen; and Railsoft Systems, Inc., FRA has determined that a public hearing is necessary... participate in a public hearing on December 13, 2011. The hearing will be conducted at the Holiday Inn Express...

  4. 29 CFR 4221.6 - Hearing.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 9 2010-07-01 2010-07-01 false Hearing. 4221.6 Section 4221.6 Labor Regulations Relating... PLANS ARBITRATION OF DISPUTES IN MULTIEMPLOYER PLANS § 4221.6 Hearing. (a) Time and place of hearing established. Unless the parties agree to proceed without a hearing as provided in § 4221.5(c), the parties and...

  5. 49 CFR 209.321 - Hearing.

    Science.gov (United States)

    2010-10-01

    ... 49 Transportation 4 2010-10-01 2010-10-01 false Hearing. 209.321 Section 209.321 Transportation... TRANSPORTATION RAILROAD SAFETY ENFORCEMENT PROCEDURES Disqualification Procedures § 209.321 Hearing. (a) Upon receipt of a hearing request complying with § 209.311, an administrative hearing for review of a notice of...

  6. Neonatal Hearing screening in tafila

    International Nuclear Information System (INIS)

    Rashed, K.A.

    2007-01-01

    To measure the true prevalence of hearing impairment in neonates in Tafila, Jordan. This retrospective study was carried out at Prince Zeid Hospital, Taflia, Jordan through analysis of data of all births from January 2005 and January 2006. Transient evoked otoacoustic emissions (TEOAE) were measured via the application of echoprobe to both ears. There were two groups of births that were analysed statistically. Hearing impaired neonates were those with two fails or more in each ear. Normal ones were those with 3 pass or more. Of the 1788 babies in the study group, 1622 (90.7%) were enrolled in the study with 9.3% loss rate. 1512 babies were examined on the 2 day of birth, 2 of them had hearing impairment with a rate of 1.2/1000. 110 babies were screened on the day of discharge from the nursery, one of them with hearing defect with a rate of 5.9/1000. Thus, true prevalence of hearing impaiment or failure was 1.7/1000. We conclude that screening for hearing impairment in the neonatal period is easy, informative and the true prevalence of hearing impairment in Tafila is similar to that in different parts of the world. (author)

  7. Definition of fluctuant hearing loss.

    Science.gov (United States)

    Shea, J J

    1975-06-01

    In summary, fluctuant hearing loss is defined as a disorder of the inner ear characterized by fullness, roaring tinnitus, and fluctuations in hearing. It is believed to be caused by an inadequate absorption of endolymph from the endolymphatic sac, with or without one or more metabolic disorders, that interferes with the delicate balance between the production and absorption of endolymph and thus produces cochlear hydrops. This triad of fullness, roaring tinnitus, and fluctuant hearing loss resulting from cochlear hydrops is much more common than the quadrad of true turning vertigo, fullness, roaring tinnitus, and fluctuant hearing loss due to vestibular and cochlear hydrops known as Meniere's disease. Although patients with fluctuant hearing loss only may eventually develop vertigo as the chief complaint and then be said to have Meniere's disease, it is remarkable how many patients continue to suffer mainly from cochlear symptoms at all times. It would appear, because of the greater frequency of fluctuant hearing loss than in Meniere's disease, that the cochlear labyrinth is more susceptible to hydrops than the vestibular labyrinth. For the purposes of diagnosis and treatment it is very useful to separate patients into those with fluctuant hearing loss and those with Meniere's disease.

  8. Occupational hearing loss in Korea.

    Science.gov (United States)

    Kim, Kyoo Sang

    2010-12-01

    In this article, current status of noise exposure in workplaces, trend of workers with noise-induced hearing loss (NIHL), and prevalence of NIHL in workers by industry and job category in Korea were reviewed. In addition, trends of research on the audiological effects such as hearing loss from noise and occupational hearing loss from non-noise in Korea were addressed through reports in industrial audiology. Though noise exposure level has improved, noise still shows the highest rate of cases exceeding exposure limit among workplace hazards. NIHL is the most common occupational disease except work-related disease such as musculoskeletal disorders and cerebrovascular diseases, and NIHL prevalence is thought to be much higher than reported in official publications. Noise affecting hearing comes from various sources such as workplaces, military settings, areas with exposure to high noise, and specific noise sources. There is also occupational hearing loss by non-noise including chemicals such as organic solvents and heavy metals, barotrauma, and trauma due to welding spark. Noise affects daily life through audiological effects such as hearing loss and tinnitus, non-audiological physical effects (e.g., cardiovascular), and psychosocial and behavioral effects. Development of systematic and comprehensive hearing conservation programs for lowering the noise level in workplaces and preventing the NIHL, and preparation of technological, administrative system for its settlement at workplace are urgently needed.

  9. [Evolution of speech and hearing].

    Science.gov (United States)

    Pitkäranta, Anne

    2009-01-01

    Actual spoken language of man developed only approximately 200,000 to 100,000 years ago. As a result of natural selection, man has developed hearing, which is most sensitive in the frequency regions of 200 to 4000 Hz, corresponding to those of spoken sounds. Functional hearing has been one of the prerequisites for the development of speech, although according to current opinion the language itself may have evolved by mimicking gestures with the so-called mirror neurons. Due to hearing, gesticulation was no longer necessary, and the hands became available for other purposes.

  10. 10 CFR 710.25 - Appointment of Hearing Officer; prehearing conference; commencement of hearings.

    Science.gov (United States)

    2010-01-01

    ... papers, issuing subpoenas for witnesses to attend the hearing or for the production of specific documents... extension of the hearing date past 90 calendar days from the date the request for hearing is received by the...

  11. IRF6 rs2235375 single nucleotide polymorphism is associated with isolated non-syndromic cleft palate but not with cleft lip with or without palate in south Indian population.

    Science.gov (United States)

    Gurramkonda, Venkatesh Babu; Syed, Altaf Hussain; Murthy, Jyotsna; Lakkakula, Bhaskar V K S

    2017-06-26

    Transcription factors are very diverse family of proteins involved in activating or repressing the transcription of a gene at a given time. Several studies using animal models demonstrated the role of transcription factor genes in craniofacial development. We aimed to investigate the association of IRF6 intron-6 polymorphism in the non-syndromic cleft lip with or without Palate in a south Indian population. 173 unrelated nonsyndromic cleft lip with or without Palate patients and 176 controls without clefts patients were genotyped for IRF6 rs2235375 variant by allele-specific amplification using the KASPar single nucleotide polymorphism genotyping system. The association between interferon regulatory factor-6 gene intron-6 dbSNP208032210:g.G>C (rs2235375) single nucleotide polymorphism and non-syndromic cleft lip with or without palate risk was investigated by chi-square test. There were significant differences in genotype or allele frequencies of rs2235375 single nucleotide polymorphism between controls and cases with non-syndromic cleft lip with or without palate. IRF6 rs2235375 variant was significantly associated with increased risk of non-syndromic cleft lip with or without palate in co-dominant, dominant (OR: 1.19; 95% CI 1.03-2.51; p=0.034) and allelic models (OR: 1.40; 95% CI 1.04-1.90; p=0.028). When subset analysis was applied significantly increased risk was observed in cleft palate only group (OR dominant: 4.33; 95% CI 1.44-12.97; p=0.005). These results suggest that IRF6 rs2235375 SNP play a major role in the pathogenesis and risk of developing non-syndromic cleft lip with or without palate. Copyright © 2017 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  12. Prevalence of orofacial clefts and risks for nonsyndromic cleft lip with or without cleft palate in newborns at a university hospital from West Mexico.

    Science.gov (United States)

    Corona-Rivera, Jorge Román; Bobadilla-Morales, Lucina; Corona-Rivera, Alfredo; Peña-Padilla, Christian; Olvera-Molina, Sandra; Orozco-Martín, Miriam A; García-Cruz, Diana; Ríos-Flores, Izabel M; Gómez-Rodríguez, Brian Gabriel; Rivas-Soto, Gemma; Pérez-Molina, J Jesús

    2018-02-19

    We determined the overall prevalence of typical orofacial clefts and the potential risks for nonsyndromic cleft lip with or without cleft palate in a university hospital from West México. For the prevalence, 227 liveborn infants with typical orofacial clefts were included from a total of 81,193 births occurred during the period 2009-2016 at the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Guadalajara, Jalisco, Mexico). To evaluate potential risks, a case-control study was conducted among 420 newborns, including only those 105 patients with nonsyndromic cleft lip with or without cleft palate (cases), and 315 infants without birth defects (controls). Data were analyzed using multivariable logistic regression analysis expressed as adjusted odds ratio with 95% confidence intervals . The overall prevalence for typical orofacial clefts was 28 per 10,000 (95% confidence interval: 24.3-31.6), or 1 per 358 live births. The mean values for the prepregnancy weight, antepartum weight, and pre-pregnancy body mass index were statistically higher among the mothers of cases. Infants with nonsyndromic cleft lip with or without cleft palate had a significantly higher risk for previous history of any type of congenital anomaly (adjusted odds ratio: 2.7; 95% confidence interval: 1.4-5.1), history of a relative with cleft lip with or without cleft palate (adjusted odds ratio: 19.6; 95% confidence interval: 8.2-47.1), and first-trimester exposures to progestogens (adjusted odds ratio: 6.8; 95% CI 1.8-25.3), hyperthermia (adjusted odds ratio: 3.4; 95% confidence interval: 1.1-10.6), and common cold (adjusted odds ratio: 3.6; 95% confidence interval: 1.1-11.9). These risks could have contributed to explain the high prevalence of orofacial clefts in our region of Mexico, emphasizing that except for history of relatives with cleft lip with or without cleft palate, most are susceptible of modification. © 2018 Japanese Teratology Society.

  13. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

    Science.gov (United States)

    Schultz, Julie M; Bhatti, Rashid; Madeo, Anne C; Turriff, Amy; Muskett, Julie A; Zalewski, Christopher K; King, Kelly A; Ahmed, Zubair M; Riazuddin, Saima; Ahmad, Nazir; Hussain, Zawar; Qasim, Muhammad; Kahn, Shaheen N; Meltzer, Meira R; Liu, Xue Z; Munisamy, Murali; Ghosh, Manju; Rehm, Heidi L; Tsilou, Ekaterini T; Griffith, Andrew J; Zein, Wadih M; Brewer, Carmen C; Riazuddin, Sheikh; Friedman, Thomas B

    2011-11-01

    Recessive mutant alleles of MYO7A, USH1C, CDH23, and PCDH15 cause non-syndromic deafness or type 1 Usher syndrome (USH1) characterised by deafness, vestibular areflexia, and vision loss due to retinitis pigmentosa. For CDH23, encoding cadherin 23, non-syndromic DFNB12 deafness is associated primarily with missense mutations hypothesised to have residual function. In contrast, homozygous nonsense, frame shift, splice site, and some missense mutations of CDH23, all of which are presumably functional null alleles, cause USH1D. The phenotype of a CDH23 compound heterozygote for a DFNB12 allele in trans configuration to an USH1D allele is not known and cannot be predicted from current understanding of cadherin 23 function in the retina and vestibular labyrinth. To address this issue, this study sought CDH23 compound heterozygotes by sequencing this gene in USH1 probands, and families segregating USH1D or DFNB12. Five non-syndromic deaf individuals were identified with normal retinal and vestibular phenotypes that segregate compound heterozygous mutations of CDH23, where one mutation is a known or predicted USH1 allele. One DFNB12 allele in trans configuration to an USH1D allele of CDH23 preserves vision and balance in deaf individuals, indicating that the DFNB12 allele is phenotypically dominant to an USH1D allele. This finding has implications for genetic counselling and the development of therapies for retinitis pigmentosa in Usher syndrome. ACCESSION NUMBERS: The cDNA and protein Genbank accession numbers for CDH23 and cadherin 23 used in this paper are AY010111.2 and AAG27034.2, respectively.

  14. Hearing Screening and Diagnostic Evaluation of Children With Unilateral and Mild Bilateral Hearing Loss

    OpenAIRE

    Ross, Danielle S.; Holstrum, W. June; Gaffney, Marcus; Green, Denise; Oyler, Robert F.; Gravel, Judith S.

    2008-01-01

    More than 90% of newborns in the United States are now being screened for hearing loss. A large fraction of cases of unilateral hearing loss and mild bilateral hearing loss are not currently identified through newborn hearing screening. This is of concern because a preponderance of research has demonstrated that unilateral hearing loss and mild bilateral hearing loss can lead to developmental delays and educational problems for some children. To help address this probable underidentification ...

  15. Eldercare at Home: Hearing Problems

    Science.gov (United States)

    ... harder to hear what is being said. Talk face-to-face. The older person needs to see your face ... members and friends to comment on how much communication has improved when your mother is wearing the ...

  16. Hearing Aid with Visual Indicator

    DEFF Research Database (Denmark)

    2004-01-01

    The invention comprises a hearing aid, which has a casing containing a signal receiving part for receiving an audio signal, an audio transducer for providing an audio signal to the user, a signal transmission path between the signal receiving part and the audio transducer, whereby a battery...... is provided for powering the signal receiving part, the signal path and the audio transducer, and where further means are provided for assessing the function of the hearing aid and for generating an electrical indication signal which indicates the function of the hearing aid and where further means...... are provided for intermittently generating a power signal in response to the electrical indication signal and where means are provided for converting the power signal into a light signal, such that the light signal is visible from outside the hearing aid....

  17. Protect Your Hearing at Work

    Centers for Disease Control (CDC) Podcasts

    2015-11-09

    Noise-induced hearing loss is one of the most common work-related illnesses. This podcast features information from CDC’s National Institute for Occupational Safety and Health on how to protect yourself from work-related noise-induced hearing loss.  Created: 11/9/2015 by National Institute for Occupational Safety and Health (NIOSH).   Date Released: 11/9/2015.

  18. How well can centenarians hear?

    Directory of Open Access Journals (Sweden)

    Zhongping Mao

    Full Text Available With advancements in modern medicine and significant improvements in life conditions in the past four decades, the elderly population is rapidly expanding. There is a growing number of those aged 100 years and older. While many changes in the human body occur with physiological aging, as many as 35% to 50% of the population aged 65 to 75 years have presbycusis. Presbycusis is a progressive sensorineural hearing loss that occurs as people get older. There are many studies of the prevalence of age-related hearing loss in the United States, Europe, and Asia. However, no audiological assessment of the population aged 100 years and older has been done. Therefore, it is not clear how well centenarians can hear. We measured middle ear impedance, pure-tone behavioral thresholds, and distortion-product otoacoustic emission from 74 centenarians living in the city of Shaoxing, China, to evaluate their middle and inner ear functions. We show that most centenarian listeners had an "As" type tympanogram, suggesting reduced static compliance of the tympanic membrane. Hearing threshold tests using pure-tone audiometry show that all centenarian subjects had varying degrees of hearing loss. More than 90% suffered from moderate to severe (41 to 80 dB hearing loss below 2,000 Hz, and profound (>81 dB hearing loss at 4,000 and 8,000 Hz. Otoacoustic emission, which is generated by the active process of cochlear outer hair cells, was undetectable in the majority of listeners. Our study shows the extent and severity of hearing loss in the centenarian population and represents the first audiological assessment of their middle and inner ear functions.

  19. How Well Can Centenarians Hear?

    Science.gov (United States)

    Mao, Zhongping; Zhao, Lijun; Pu, Lichun; Wang, Mingxiao; Zhang, Qian; He, David Z. Z.

    2013-01-01

    With advancements in modern medicine and significant improvements in life conditions in the past four decades, the elderly population is rapidly expanding. There is a growing number of those aged 100 years and older. While many changes in the human body occur with physiological aging, as many as 35% to 50% of the population aged 65 to 75 years have presbycusis. Presbycusis is a progressive sensorineural hearing loss that occurs as people get older. There are many studies of the prevalence of age-related hearing loss in the United States, Europe, and Asia. However, no audiological assessment of the population aged 100 years and older has been done. Therefore, it is not clear how well centenarians can hear. We measured middle ear impedance, pure-tone behavioral thresholds, and distortion-product otoacoustic emission from 74 centenarians living in the city of Shaoxing, China, to evaluate their middle and inner ear functions. We show that most centenarian listeners had an “As” type tympanogram, suggesting reduced static compliance of the tympanic membrane. Hearing threshold tests using pure-tone audiometry show that all centenarian subjects had varying degrees of hearing loss. More than 90% suffered from moderate to severe (41 to 80 dB) hearing loss below 2,000 Hz, and profound (>81 dB) hearing loss at 4,000 and 8,000 Hz. Otoacoustic emission, which is generated by the active process of cochlear outer hair cells, was undetectable in the majority of listeners. Our study shows the extent and severity of hearing loss in the centenarian population and represents the first audiological assessment of their middle and inner ear functions. PMID:23755251

  20. Occupational hearing loss in farmers.

    OpenAIRE

    Plakke, B L; Dare, E

    1992-01-01

    Studies have shown that there is a great deal of high-frequency sensorineural hearing loss among farmers. The studies have failed, however, to differentiate farmers who have occupational noise exposure only from other potential hearing loss etiologies. This study, through extensive case history information, has isolated a farm noise-exposure group and matched its members by age with persons with no significant noise exposure. Results indicate that farmers exposed only to noise from farming ha...

  1. A discriminant analysis prediction model of non-syndromic cleft lip with or without cleft palate based on risk factors.

    Science.gov (United States)

    Li, Huixia; Luo, Miyang; Luo, Jiayou; Zheng, Jianfei; Zeng, Rong; Du, Qiyun; Fang, Junqun; Ouyang, Na

    2016-11-23

    A risk prediction model of non-syndromic cleft lip with or without cleft palate (NSCL/P) was established by a discriminant analysis to predict the individual risk of NSCL/P in pregnant women. A hospital-based case-control study was conducted with 113 cases of NSCL/P and 226 controls without NSCL/P. The cases and the controls were obtained from 52 birth defects' surveillance hospitals in Hunan Province, China. A questionnaire was administered in person to collect the variables relevant to NSCL/P by face to face interviews. Logistic regression models were used to analyze the influencing factors of NSCL/P, and a stepwise Fisher discriminant analysis was subsequently used to construct the prediction model. In the univariate analysis, 13 influencing factors were related to NSCL/P, of which the following 8 influencing factors as predictors determined the discriminant prediction model: family income, maternal occupational hazards exposure, premarital medical examination, housing renovation, milk/soymilk intake in the first trimester of pregnancy, paternal occupational hazards exposure, paternal strong tea drinking, and family history of NSCL/P. The model had statistical significance (lambda = 0.772, chi-square = 86.044, df = 8, P Self-verification showed that 83.8 % of the participants were correctly predicted to be NSCL/P cases or controls with a sensitivity of 74.3 % and a specificity of 88.5 %. The area under the receiver operating characteristic curve (AUC) was 0.846. The prediction model that was established using the risk factors of NSCL/P can be useful for predicting the risk of NSCL/P. Further research is needed to improve the model, and confirm the validity and reliability of the model.

  2. Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry.

    Science.gov (United States)

    do Rego Borges, Andrea; Sá, Jamile; Hoshi, Ryuichi; Viena, Camila Sane; Mariano, Lorena C; de Castro Veiga, Patricia; Medrado, Alena Peixoto; Machado, Renato Assis; de Aquino, Sibele Nascimento; Messetti, Ana Camila; Spritz, Richard A; Coletta, Ricardo D; Reis, Silvia R A

    2015-10-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL ± P) is the most common orofacial birth defect, exhibiting variable prevalence around the world, often attributed to ethnic and environmental differences. Linkage analyses and genome-wide association studies have identified several genomic susceptibility regions for NSCL ± P, mostly in European-derived or Asian populations. Genetic predisposition to NSCL ± P is ethnicity-dependent, and the genetic basis of susceptibility to NSCL ± P likely varies among populations. The population of Brazil is highly admixed, with highly variable ancestry; thus, the genetic determinants of NSCL ± P susceptibility may be quite different. This study tested association of 8 single-nucleotide polymorphisms (SNPs), previously identified by genome-wide studies in other populations, with NSCL ± P in a Brazilian population with high African ancestry. SNPs rs560426, rs642961, rs1530300, rs987525, rs3758249, rs7078160, rs17085106, and rs13041247 were genotyped in 293 Brazilian patients with NSCL ± P and 352 unaffected Brazilian controls. Each sample was also genotyped for 40 biallelic short insertion/deletion polymorphic markers to characterize genetic ancestry. The average African ancestry background was 31.1% for the NSCL ± P group and 36.7% for the control group. After adjustment for ancestry and multiple testing, the minor alleles of rs3758249 (OR: 1.58, 95% CI: 1.25-2.01, P = 0.0001) and rs7078160 (OR: 1.59, 95% CI: 1.21-2.07, P = 0.0002) were significantly associated with risk of NSCL ± P. Polymorphisms located in IRF6 (rs642961) and 8q24 (rs1530300 and rs987525) showed marginal associations in this Brazilian population with high African ancestry. These results indicate that rs3758249 at 9q22 and rs7078160 at 10q25.3 represent risk loci for NSCL ± P in the Brazilian population with high African ancestry. © 2015 Wiley Periodicals, Inc.

  3. Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot.

    Directory of Open Access Journals (Sweden)

    Douglas C Bittel

    Full Text Available Tetralogy of Fallot (TOF is one of the most common severe congenital heart malformations. Great progress has been made in identifying key genes that regulate heart development, yet approximately 70% of TOF cases are sporadic and nonsyndromic with no known genetic cause. We created an ultra high-resolution gene centric comparative genomic hybridization (gcCGH microarray based on 591 genes with a validated association with cardiovascular development or function. We used our gcCGH array to analyze the genomic structure of 34 infants with sporadic TOF without a deletion on chromosome 22q11.2 (n male = 20; n female = 14; age range of 2 to 10 months. Using our custom-made gcCGH microarray platform, we identified a total of 613 copy number variations (CNVs ranging in size from 78 base pairs to 19.5 Mb. We identified 16 subjects with 33 CNVs that contained 13 different genes which are known to be directly associated with heart development. Additionally, there were 79 genes from the broader list of genes that were partially or completely contained in a CNV. All 34 individuals examined had at least one CNV involving these 79 genes. Furthermore, we had available whole genome exon arrays from right ventricular tissue in 13 of our subjects. We analyzed these for correlations between copy number and gene expression level. Surprisingly, we could detect only one clear association between CNVs and expression (GSTT1 for any of the 591 focal genes on the gcCGH array. The expression levels of GSTT1 were correlated with copy number in all cases examined (r = 0.95, p = 0.001. We identified a large number of small CNVs in genes with varying associations with heart development. Our results illustrate the complexity of human genome structural variation and underscore the need for multifactorial assessment of potential genetic/genomic factors that contribute to congenital heart defects.

  4. Prevalence, Characteristics, and Complications of Supernumerary Teeth in Nonsyndromic Pediatric Population of South India: A Clinical and Radiographic Study.

    Science.gov (United States)

    Syriac, Gibi; Joseph, Elizabeth; Rupesh, S; Philip, John; Cherian, Sunu Alice; Mathew, Josey

    2017-11-01

    Supernumerary teeth are the presence of more number of teeth over the normal dental formula and may occur in permanent as well as early mixed dentition. This study determined the prevalence, characteristics, and complications caused by supernumerary teeth in nonsyndromic South Indian pediatric population. Characteristics of supernumerary teeth determined by clinical and radiographic examination were recorded. The age, sex, number of supernumerary teeth, eruption status, morphology, position, orientation, and complications (if any) associated with supernumerary teeth were recorded for each patient who had supernumerary teeth. The data collected were statistically analyzed. Supernumerary teeth were detected in 45 subjects (1.1%), of which 34 (75.6%) were male and 11 (24.4%) were female. There was no association between the number of supernumerary teeth and the gender of the patient. The total number of supernumerary teeth among the affected 45 patients was 54. The average number of supernumerary teeth per person was 1.2. The number of supernumerary teeth was one in 35 cases, two in 8 cases, and 3 in 1 case. Of the 45 patients, 8 patients with supernumerary teeth were in deciduous dentition stage, 29 patients were in mixed dentition stage, and 8 patients were in permanent dentition stage. Most supernumerary teeth presented in the anterior maxilla. Morphologically, conical-shaped supernumerary teeth were the most common finding. 68.5% of supernumerary teeth presented with straight orientation and inverted orientation was seen in 24.1%. Complications seen in patients with supernumerary teeth were delayed or noneruption of adjacent tooth malposition or rotation of adjacent teeth, diastema formation, and formation of dentigerous cyst. Supernumerary teeth have an incidence of 1.1% in South Indian population and can cause many complications that can harm the developing occlusion. Knowledge about supernumerary teeth may help the dentist in early diagnosis and early

  5. Cone-Beam Computed Tomography Analysis of the Nasopharyngeal Airway in Nonsyndromic Cleft Lip and Palate Subjects.

    Science.gov (United States)

    Al-Fahdawi, Mahmood Abd; Farid, Mary Medhat; El-Fotouh, Mona Abou; El-Kassaby, Marwa Abdelwahab

    2017-03-01

      To assess the nasopharyngeal airway volume, cross-sectional area, and depth in previously repaired nonsyndromic unilateral cleft lip and palate versus bilateral cleft lip and palate patients compared with noncleft controls using cone-beam computed tomography with the ultimate goal of finding whether cleft lip and palate patients are more liable to nasopharyngeal airway obstruction.   A retrospective analysis comparing bilateral cleft lip and palate, unilateral cleft lip and palate, and control subjects. Significance at P ≤ .05.   Cleft Care Center and the outpatient clinic that are both affiliated with our faculty.   Cone-beam computed tomography data were selected of 58 individuals aged 9 to 12 years: 14 with bilateral cleft lip and palate and 20 with unilateral cleft lip and palate as well as 24 age- and gender-matched noncleft controls.   Volume, depth, and cross-sectional area of nasopharyngeal airway were measured.   Patients with bilateral cleft lip and palate showed significantly larger nasopharyngeal airway volume than controls and patients with unilateral cleft lip and palate (P cleft lip and palate showed significantly larger cross-sectional area than those with unilateral cleft lip and palate (P .05). Patients with bilateral cleft lip and palate showed significantly larger depth than controls and those with unilateral cleft lip and palate (P cleft lip and palate showed insignificant nasopharyngeal airway volume, cross-sectional area, and depth compared with controls (P > .05).   Unilateral and bilateral cleft lip and palate patients did not show significantly less volume, cross-sectional area, or depth of nasopharyngeal airway than controls. From the results of this study we conclude that unilateral and bilateral cleft lip and palate patients at the studied age and stage of repaired clefts are not more prone to nasopharyngeal airway obstruction than controls.

  6. A New Role for LOC101928437 in Non-Syndromic Intellectual Disability: Findings from a Family-Based Association Test.

    Science.gov (United States)

    Zhou, Shaohe; Shi, Zhangyan; Cui, Meng; Li, Junlin; Ma, Zhe; Shi, Yuanyu; Zheng, Zijian; Zhang, Fuchang; Jin, Tianbo; Geng, Tingting; Chen, Chao; Guo, Yale; Zhou, Jianping; Huang, Shaoping; Guo, Xingli; Gao, Lin; Gong, Pingyuan; Gao, Xiaocai; Zhang, Kejin

    2015-01-01

    Non-syndromic intellectual disability (NSID) is mental retardation in persons of normal physical appearance who have no recognisable features apart from obvious deficits in intellectual functioning and adaptive ability; however, its genetic etiology of most patients has remained unknown. The main purpose of this study was to fine map and identify specific causal gene(s) by genotyping a NSID family cohort using a panel of markers encompassing a target region reported in a previous work. A total of 139 families including probands, parents and relatives were included in the household survey, clinical examinations and intelligence tests, recruited from the Qinba mountain region of Shannxi province, western China. A collection of 34 tagged single nucleotide polymorphisms (tSNPs) spanning five microsatellite marker (STR) loci were genotyped using an iPLEX Gold assay. The association between tSNPs and patients was analyzed by family-based association testing (FBAT) and haplotype analysis (HBAT). Four markers (rs5974392, rs12164331, rs5929554 and rs3116911) in a block that showed strong linkage disequilibrium within the first three introns of the LOC101928437 locus were found to be significantly associated with NSID (all P<0.01) by the FBAT method for a single marker in additive, dominant and recessive models. The results of haplotype tests of this block also revealed a significant association with NSID (all P<0.05) using 2-window and larger HBAT analyses. These results suggest that LOC101928437 is a novel candidate gene for NSID in Han Chinese individuals of the Qinba region of China. Although the biological function of the gene has not been well studied, knowledge about this gene will provide insights that will increase our understanding of NSID development.

  7. A New Role for LOC101928437 in Non-Syndromic Intellectual Disability: Findings from a Family-Based Association Test.

    Directory of Open Access Journals (Sweden)

    Shaohe Zhou

    Full Text Available Non-syndromic intellectual disability (NSID is mental retardation in persons of normal physical appearance who have no recognisable features apart from obvious deficits in intellectual functioning and adaptive ability; however, its genetic etiology of most patients has remained unknown. The main purpose of this study was to fine map and identify specific causal gene(s by genotyping a NSID family cohort using a panel of markers encompassing a target region reported in a previous work. A total of 139 families including probands, parents and relatives were included in the household survey, clinical examinations and intelligence tests, recruited from the Qinba mountain region of Shannxi province, western China. A collection of 34 tagged single nucleotide polymorphisms (tSNPs spanning five microsatellite marker (STR loci were genotyped using an iPLEX Gold assay. The association between tSNPs and patients was analyzed by family-based association testing (FBAT and haplotype analysis (HBAT. Four markers (rs5974392, rs12164331, rs5929554 and rs3116911 in a block that showed strong linkage disequilibrium within the first three introns of the LOC101928437 locus were found to be significantly associated with NSID (all P<0.01 by the FBAT method for a single marker in additive, dominant and recessive models. The results of haplotype tests of this block also revealed a significant association with NSID (all P<0.05 using 2-window and larger HBAT analyses. These results suggest that LOC101928437 is a novel candidate gene for NSID in Han Chinese individuals of the Qinba region of China. Although the biological function of the gene has not been well studied, knowledge about this gene will provide insights that will increase our understanding of NSID development.

  8. Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

    Science.gov (United States)

    Seyedahmadi, Babak Jian; Rivolta, Carlo; Keene, Julia A; Berson, Eliot L; Dryja, Thaddeus P

    2004-08-01

    A screen of the entire coding region of the USH2A gene in 129 unrelated patients with Usher syndrome type II (USH2) and in 146 unrelated patients with non-syndromic autosomal recessive retinitis pigmentosa (ARRP) uncovered 54 different sequence variations, including 18 likely pathogenic mutations (13 frameshift, three nonsense, and two missense), 12 changes of uncertain pathogenicity (11 missense changes and one in-frame deletion), and 24 non-pathogenic rare variants or polymorphisms. Of the 18 likely pathogenic mutations, nine were novel. Among the USH2 patients, 50 (39%) had one or two likely pathogenic mutations. The most common mutant allele in USH2 patients was E767fs, which was found in 29 patients, including one homozygote. Among the ARRP patients, we found 17 (12%) with one or two likely pathogenic mutations. The most common mutant allele in ARRP patients was C759F and it was found in 10 patients. The C759F allele was also found in two USH2 patients; in neither of them was a change in the other allele found. The second most common mutant allele in both patient groups was L1447fs (found in 6/50 USH2 patients and 6/17 ARRP patients). Of the 50+17=67 patients with identified USH2A mutations, only one mutation in one allele was found in 41+12=53 (79%); the reason for the high proportion of patients with only one identified mutation is obscure. Our results indicate that USH2A mutations are found in about 7% of all cases of RP in North America, a frequency similar to the RPGR gene (8%) and the rhodopsin gene (10%).

  9. Sensorineural and conductive hearing loss in infants diagnosed in the program of universal newborn hearing screening.

    Science.gov (United States)

    Wroblewska-Seniuk, Katarzyna; Dabrowski, Piotr; Greczka, Grazyna; Szabatowska, Katarzyna; Glowacka, Agata; Szyfter, Witold; Mazela, Jan

    2018-02-01

    The aim of this study was to analyze infants diagnosed with sensorineural or conductive hearing deficit and to identify risk factors associated with these defects. A retrospective analysis of infants diagnosed with hearing deficit based on the database of the universal newborn hearing screening program and medical records of the patients. 27 935 infants were covered by the universal neonatal hearing screening program. 109 (0.39%) were diagnosed with hearing deficit and referred for treatment and rehabilitation. 56 (51.4%) children were diagnosed with conductive, 38 (34.9%) with sensorineural and 15 (13.8%) with mixed type of hearing deficit. Children with sensorineural hearing deficit more frequently suffered from hyperbilirubinemia (p conductive hearing loss were more frequently diagnosed with isolated craniofacial anomalies (p hearing deficit occurred almost 3 times more often bilaterally than unilaterally (p hearing deficit, the difference was not significant. In children with conductive and mixed type of hearing loss the impairment was mainly mild while among those with sensorineural hearing deficit in almost 45% it was severe and profound (p hearing screening test by means of otoacoustic emissions and the final diagnosis of hearing deficit we found that the highest agreement rate was observed in children with sensorineural hearing loss (p hearing deficit was similar in children with sensorineural, conductive and mixed type of hearing loss, only hyperbilirubinemia seemed to predispose to sensorineural hearing deficit and isolated craniofacial malformations seemed to be associated with conductive hearing loss. Sensorineural hearing deficit usually occurred bilaterally and was severe or profound, while conductive and mixed type of hearing deficit were most often of mild degree. Most children with the final diagnosis of sensorineural hearing deficit had positive result of hearing screening by means of otoacoustic emissions. Copyright © 2017 Elsevier B.V. All

  10. Hearing Status in Pediatric Renal Transplant Recipients.

    Science.gov (United States)

    Gulleroglu, Kaan; Baskin, Esra; Aydin, Erdinc; Ozluoglu, Levent; Moray, Gokhan; Haberal, Mehmet

    2015-08-01

    Renal transplant provides a long-term survival. Hearing impairment is a major factor in subjective health status. Status of hearing and the cause of hearing impairment in the pediatric renal transplant group have not been evaluated. Here, we studied to evaluate hearing status in pediatric renal transplant patients and to determine the factors that cause hearing impairment. Twenty-seven pediatric renal transplant recipients were investigated. All patients underwent audiologic assessment by means of pure-tone audiometry. The factors on hearing impairment were performed. Sensorineural hearing impairment was found in 17 patients. There was marked hearing impairment for the higher frequencies between 4000 and 8000 Hz. Sudden hearing loss developed in 2 patients, 1 of them had tinnitus. Decrease of speech understanding was found in 8 patients. The cyclosporine level was significantly high in patients with hearing impairment compared with group without hearing impairment. Cyclosporine levels also were found to be statistically significantly high when compared with the group with decrease of speech understanding and the group without decrease of speech understanding. Similar relations cannot be found between tacrolimus levels and hearing impairment and speech understanding. Sensorineural hearing impairment prevalence was high in pediatric renal transplant recipients when compared with the general population of children. Cyclosporine may be responsible for causing hearing impairment after renal transplant. We suggest that this effect is a dose-dependent toxicity.

  11. Psychosocial Aspects of Hearing Loss in Children.

    Science.gov (United States)

    Sorkin, Donna L; Gates-Ulanet, Patricia; Mellon, Nancy K

    2015-12-01

    Pediatric hearing loss changed more in the past two decades than it had in the prior 100 years with children now identified in the first weeks of life and fit early with amplification. Dramatic improvements in hearing technology allow children the opportunity to listen, speak and read on par with typically hearing peers. National laws mandate that public and private schools, workplaces, and anywhere people go must be accessible to individuals with disabilities. In 2015, most children with hearing loss attended mainstream schools with typically hearing peers. Psychosocial skills still present challenges for some children with hearing loss. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Acoustics and Hearing

    CERN Document Server

    Damaske, Peter

    2008-01-01

    When one listens to music at home, one would like to have an acoustic impression close to that of being in the concert hall. Until recently this meant elaborate multi-channelled sound systems with 5 or more speakers. But head-related stereophony achieves the surround-sound effect in living rooms with only two loudspeakers. By virtue of their slight directivity as well as an electronic filter the limitations previously common to two-speaker systems can be overcome and this holds for any arbitrary two-channel recording. The book also investigates the question of how a wide and diffuse sound image can arise in concert halls and shows that the quality of concert halls decisively depends on diffuse sound images arising in the onset of reverberation. For this purpose a strong onset of reverberation is modified in an anechoic chamber by electroacoustic means. Acoustics and Hearing proposes ideas concerning signal processing in the auditory system that explain the measured results and the resultant sound effects plea...

  13. Hearing impairment in Estonia

    DEFF Research Database (Denmark)

    Teek, R; Kruustük, K; Zordania, R

    2013-01-01

    Abstract Purpose: The present study was initiated to establish the etiological causes of early onset hearing loss (HL) among Estonian children between 2000-2009. Methods: The study group consisted of 233 probands who were first tested with an arrayed primer extension assay, which covers 199 mutat...... for 115 Estonian patients (49%). This algorithm may be generalized to other populations for clinical application....... performed. Results: In 110 (47%) cases, the etiology of HL was genetic and in 5 (2%) congenital CMV infection was diagnosed. We found mutations with clinical significance in GJB2 (100 children, 43%) and in 2 mitochondrial genes (2 patients, 1%). A single mutation in SLC26A4 gene was detected in 5 probands...... able to conclude that the found abnormalities are definitely pathogenic (12q13.3-q14.2 and 17q22-23.2 microdeletion), but the pathogenity of 2 other findings (3p26.2 and 1p33 microdeletion) remained unknown. Conclusion: This practical diagnostic algorithm confirmed the etiology of early onset HL...

  14. Newborn hearing screening vs later hearing screening and developmental outcomes in children with permanent childhood hearing impairment

    NARCIS (Netherlands)

    Korver, Anna M. H.; Konings, Saskia; Dekker, Friedo W.; Beers, Mieke; Wever, Capi C.; Frijns, Johan H. M.; Oudesluys-Murphy, Anne M.; de Vries, Jutte; Vossen, Ann; Kant, Sarina; van den Akker-van Marle, Elske; le Cessie, Saskia; Rieffe, Carolien; Ens-Dokkum, Martina; van Straaten, Irma; Uilenburg, Noelle; Elvers, Bert; Loeber, Gerard; Meuwese-Jongejeugd, Anneke; Maré, Marcel; van Zanten, Bert; Goedegebure, André; Coster, Francien; van Dijk, Pim; Goverts, Theo; Admiraal, Ronald; Cremers, Cor; Kunst, Dirk; de Leeuw, Marina; Dijkhuizen, Janette; Scharloo, Marleen; Hoeben, Dirk; Rijpma, Gerti; Graef, Wim; Linschoten, Dik; Kuijper, Jessica; Hof, Nanda; Koldewijn, Reinoud; Pans, Donné; Jorritsma, Frank; van Beurden, Maarten; ter Huurne, Christien; Brienesse, Patrick; Seekles, Lisanne; de Jong, Jantine; Thijssen, Andrea; Lievense, Andrea; van Egdom-van der Wind, Marina; Theunissen, Stephanie; Mooij, Sophie

    2010-01-01

    Newborn hearing screening programs have been implemented in many countries because it was thought that the earlier permanent childhood hearing impairment is detected, the less developmentally disadvantaged children would become. To date, however, no strong evidence exists for universal introduction

  15. Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort.

    Science.gov (United States)

    Wang, Yirui; Sun, Yimin; Huang, Yongqing; Pan, Yongchu; Jia, Zhonglin; Ma, Lijuan; Ma, Lan; Lan, Feifei; Zhou, Yuxi; Shi, Jiayu; Yang, Xiong; Zhang, Lei; Jiang, Hongbing; Jiang, Min; Yin, Aihua; Cheng, Jing; Wang, Lin; Yang, Yinxue; Shi, Bing

    2016-08-15

    Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects worldwide and is characterized by abnormalities of the orofacial structure. Syndromic CL/P is mainly caused by Mendelian disorders such as Van der Woude Syndrome (VWS). However, >70% of CL/P cases are nonsyndromic, characterized by isolated orofacial cleft without any known syndrome. The etiology of nonsyndromic CL/P (NSCL/P) remains elusive, but it has been suggested that causative genes of syndromic CL/P might also contribute to NSCL/P. As such, the VWS causative gene IRF6 has been extensively studied in NSCL/P. Recently, GRHL3 was identified as another VWS causative gene. Thus, it may be a novel candidate gene for NSCL/P. In the present study, we genotyped 10 tag SNPs covering GRHL3 and performed association analysis with NSCL/P in 504 cases and 455 healthy controls. Our preliminary results identified rs10903078, rs4638975, and a haplotype rs10903078-rs6659209 of GRHL3 that exceeded the significance threshold (p<0.05), though none survived Bonferroni correction for multiple comparisons. As the first study between GRHL3 and NSCL/P, the contribution of this gene to NSCL/P etiology should be interpreted with caution based on existing evidence. Further, the robustness of association between GRHL3 and NSCL/P should be further validated in expanded cohorts. Copyright © 2016. Published by Elsevier B.V.

  16. Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

    Science.gov (United States)

    Khordadpoor-Deilamani, Faravareh; Akbari, Mohammad Taghi; Karimipoor, Morteza; Javadi, Gholam Reza

    2016-05-01

    Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented hair, skin and eyes. It is associated with decreased visual acuity, nystagmus, strabismus and photophobia. Six genes are known to be involved in nonsyndromic oculocutaneous albinism (OCA). In this study, we aimed to find the disease causing mutations in albinism patients using homozygosity mapping. Twenty three unrelated patients with nonsyndromic OCA or autosomal recessive ocular albinism were recruited in this study. All of the patients' parents had consanguineous marriage and all were screened for TYR mutations previously. At first, we performed homozygosity mapping using fluorescently labeled primers to amplify a novel panel of 13 STR markers inside the OCA genes and then the screened loci in each family were studied using PCR and cycle sequencing methods. We found five mutations including three mutations in OCA2, one mutation in SLC45A2 and one mutation in C10ORF11 genes, all of which were novel. In cases where the disease causing mutations are identical by descent due to a common ancestor, these STR markers can enable us to screen for the responsible genes.

  17. Non-syndromic sensorineural prelingual deafness: the importance of genetic counseling in demystifying parents' beliefs about the cause of their children's deafness.

    Science.gov (United States)

    Rodrigues, Fidjy; Paneque, Milena; Reis, Cláudia; Venâncio, Margarida; Sequeiros, Jorge; Saraiva, Jorge

    2013-08-01

    Recent advances in molecular genetics have allowed the determination of the genetic cause of some childhood non-syndromic deafness. In Portugal only a small proportion of families are referred to a clinical genetics service in order to clarify the etiology of the deafness and to provide genetic counseling. Consequently, there are no published studies of the prior beliefs of parents about the causes of hereditary deafness of their children and their genetic knowledge after receipt of genetic counseling. In order to evaluate the impact of genetic counseling, 44 parents of 24 children with the diagnosis of non-syndromic sensorineural prelingual deafness due to mutations in the GJB2 (connexin 26), completed surveys before and after genetic counseling. Before counseling 13.6 % of the parents knew the cause of deafness; at a post-counseling setting this percentage was significantly higher, with 84.1 % of the parents accurately identifying the etiology. No significant differences were found between the answers of mothers and fathers either before or after genetic counseling. Parents' level of education was a significant factor in pre-test knowledge. After genetic counseling 95.5 % of the parents stated that the consultation had met their expectations, 70.5 % remembered correctly the inheritance pattern, and 93.2 % correctly recalled the chance of risk of deafness. These results underline the importance of genetic counseling in demystifying parents' beliefs about the etiology of their children's deafness.

  18. Genetic testing for hearing impairment.

    Science.gov (United States)

    Topsakal, V; Van Camp, G; Van de Heyning, P

    2005-01-01

    For some patients, genetic testing can reveal the etiology of their hearing impairment, and can provide evidence for a medical diagnosis. However, a gap between fundamental genetic research on hereditary deafness and clinical otology emerges because of the steadily increasing number of discovered genes for hereditary hearing impairment (HHI) and the comparably low clinical differentiation of the HHIs. In an attempt to keep up with the scientific progress, this article enumerates the indications of genetic testing for HHI from a clinical point of view and describes the most frequently encountered HHIs in Belgium. Domains of recent scientific interest, molecular biological aspects, and some pitfalls with HHIs are highlighted. The overview comprises bilateral congenital hearing loss, late-onset progressive high frequency hearing loss, progressive bilateral cochleo-vestibular deficit, and progressive low frequency hearing loss. Also, several syndromal forms of HHI are summarized, and the availability of genetic tests mentioned. Finally, the requirements for successful linkage analysis, an important genetic research tool for localizing the potential genes of a trait on a chromosome, are briefly described.

  19. Vestibular hearing and neural synchronization.

    Science.gov (United States)

    Emami, Seyede Faranak; Daneshi, Ahmad

    2012-01-01

    Objectives. Vestibular hearing as an auditory sensitivity of the saccule in the human ear is revealed by cervical vestibular evoked myogenic potentials (cVEMPs). The range of the vestibular hearing lies in the low frequency. Also, the amplitude of an auditory brainstem response component depends on the amount of synchronized neural activity, and the auditory nerve fibers' responses have the best synchronization with the low frequency. Thus, the aim of this study was to investigate correlation between vestibular hearing using cVEMPs and neural synchronization via slow wave Auditory Brainstem Responses (sABR). Study Design. This case-control survey was consisted of twenty-two dizzy patients, compared to twenty healthy controls. Methods. Intervention comprised of Pure Tone Audiometry (PTA), Impedance acoustic metry (IA), Videonystagmography (VNG), fast wave ABR (fABR), sABR, and cVEMPs. Results. The affected ears of the dizzy patients had the abnormal findings of cVEMPs (insecure vestibular hearing) and the abnormal findings of sABR (decreased neural synchronization). Comparison of the cVEMPs at affected ears versus unaffected ears and the normal persons revealed significant differences (P < 0.05). Conclusion. Safe vestibular hearing was effective in the improvement of the neural synchronization.

  20. Prediction of hearing outcomes by multiple regression analysis in patients with idiopathic sudden sensorineural hearing loss.

    Science.gov (United States)

    Suzuki, Hideaki; Tabata, Takahisa; Koizumi, Hiroki; Hohchi, Nobusuke; Takeuchi, Shoko; Kitamura, Takuro; Fujino, Yoshihisa; Ohbuchi, Toyoaki

    2014-12-01

    This study aimed to create a multiple regression model for predicting hearing outcomes of idiopathic sudden sensorineural hearing loss (ISSNHL). The participants were 205 consecutive patients (205 ears) with ISSNHL (hearing level ≥ 40 dB, interval between onset and treatment ≤ 30 days). They received systemic steroid administration combined with intratympanic steroid injection. Data were examined by simple and multiple regression analyses. Three hearing indices (percentage hearing improvement, hearing gain, and posttreatment hearing level [HLpost]) and 7 prognostic factors (age, days from onset to treatment, initial hearing level, initial hearing level at low frequencies, initial hearing level at high frequencies, presence of vertigo, and contralateral hearing level) were included in the multiple regression analysis as dependent and explanatory variables, respectively. In the simple regression analysis, the percentage hearing improvement, hearing gain, and HLpost showed significant correlation with 2, 5, and 6 of the 7 prognostic factors, respectively. The multiple correlation coefficients were 0.396, 0.503, and 0.714 for the percentage hearing improvement, hearing gain, and HLpost, respectively. Predicted values of HLpost calculated by the multiple regression equation were reliable with 70% probability with a 40-dB-width prediction interval. Prediction of HLpost by the multiple regression model may be useful to estimate the hearing prognosis of ISSNHL. © The Author(s) 2014.

  1. Motivation to Address Self-Reported Hearing Problems in Adults with Normal Hearing Thresholds

    Science.gov (United States)

    Alicea, Carly C. M.; Doherty, Karen A.

    2017-01-01

    Purpose: The purpose of this study was to compare the motivation to change in relation to hearing problems in adults with normal hearing thresholds but who report hearing problems and that of adults with a mild-to-moderate sensorineural hearing loss. Factors related to their motivation were also assessed. Method: The motivation to change in…

  2. Low empathy in deaf and hard of hearing (preadolescents compared to normal hearing controls.

    Directory of Open Access Journals (Sweden)

    Anouk P Netten

    Full Text Available The purpose of this study was to examine the level of empathy in deaf and hard of hearing (preadolescents compared to normal hearing controls and to define the influence of language and various hearing loss characteristics on the development of empathy.The study group (mean age 11.9 years consisted of 122 deaf and hard of hearing children (52 children with cochlear implants and 70 children with conventional hearing aids and 162 normal hearing children. The two groups were compared using self-reports, a parent-report and observation tasks to rate the children's level of empathy, their attendance to others' emotions, emotion recognition, and supportive behavior.Deaf and hard of hearing children reported lower levels of cognitive empathy and prosocial motivation than normal hearing children, regardless of their type of hearing device. The level of emotion recognition was equal in both groups. During observations, deaf and hard of hearing children showed more attention to the emotion evoking events but less supportive behavior compared to their normal hearing peers. Deaf and hard of hearing children attending mainstream education or using oral language show higher levels of cognitive empathy and prosocial motivation than deaf and hard of hearing children who use sign (supported language or attend special education. However, they are still outperformed by normal hearing children.Deaf and hard of hearing children, especially those in special education, show lower levels of empathy than normal hearing children, which can have consequences for initiating and maintaining relationships.

  3. Low empathy in deaf and hard of hearing (pre)adolescents compared to normal hearing controls.

    Science.gov (United States)

    Netten, Anouk P; Rieffe, Carolien; Theunissen, Stephanie C P M; Soede, Wim; Dirks, Evelien; Briaire, Jeroen J; Frijns, Johan H M

    2015-01-01

    The purpose of this study was to examine the level of empathy in deaf and hard of hearing (pre)adolescents compared to normal hearing controls and to define the influence of language and various hearing loss characteristics on the development of empathy. The study group (mean age 11.9 years) consisted of 122 deaf and hard of hearing children (52 children with cochlear implants and 70 children with conventional hearing aids) and 162 normal hearing children. The two groups were compared using self-reports, a parent-report and observation tasks to rate the children's level of empathy, their attendance to others' emotions, emotion recognition, and supportive behavior. Deaf and hard of hearing children reported lower levels of cognitive empathy and prosocial motivation than normal hearing children, regardless of their type of hearing device. The level of emotion recognition was equal in both groups. During observations, deaf and hard of hearing children showed more attention to the emotion evoking events but less supportive behavior compared to their normal hearing peers. Deaf and hard of hearing children attending mainstream education or using oral language show higher levels of cognitive empathy and prosocial motivation than deaf and hard of hearing children who use sign (supported) language or attend special education. However, they are still outperformed by normal hearing children. Deaf and hard of hearing children, especially those in special education, show lower levels of empathy than normal hearing children, which can have consequences for initiating and maintaining relationships.

  4. Noise induced hearing loss and other hearing complaints among musicians of symphony orchestras

    NARCIS (Netherlands)

    Jansen, E. J. M.; Helleman, H. W.; Dreschler, W. A.; de Laat, J. A. P. M.

    2009-01-01

    OBJECTIVES: An investigation of the hearing status of musicians of professional symphony orchestras. Main questions are: (1) Should musicians be treated as a special group with regard to hearing, noise, and noise related hearing problems (2) Do patterns of hearing damage differ for different

  5. X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

    NARCIS (Netherlands)

    Synofzik, Matthis; Müller Vom Hagen, Jennifer; Haack, Tobias B.; Wilhelm, Christian; Lindig, Tobias; Beck-Wödl, Stefanie; Nabuurs, Sander B.; van Kuilenburg, André B. P.; de Brouwer, Arjan P. M.; Schöls, Ludger

    2014-01-01

    X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-function mutations in PRPS1. As only few families have been

  6. Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J.; Carlson, Jenna C.; Shaffer, John R.

    2017-01-01

    Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have h...

  7. A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R

    2016-01-01

    Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental fac...

  8. Case Factors Affecting Hearing Aid Recommendations by Hearing Care Professionals

    DEFF Research Database (Denmark)

    Gioia, Carmine; Ben-Akiva, Moshe; Jørgensen, Ole

    2015-01-01

    in subjective decision-making as regards the technology level recommendation made by professionals. Purpose: The objective of this study is to gain insight into the decision-making criteria utilized by professionals when recommending HI technology levels to hearing-impaired patients.......Background: Professional recommendations to patients concerning hearing instrument (HI) technology levels are not currently evidence-based. Pre-fitting parameters have not been proven to be the primary indicators for optimal patient outcome with different HI technology levels. This results...

  9. Hearing Evaluation in Children (For Parents)

    Science.gov (United States)

    ... Loss? Going to a Speech Therapist Can Loud Music Hurt My Ears? Going to the Audiologist Hearing Impairment Speech Problems Hearing Aids Earbuds View more About Us Contact Us Partners Editorial Policy Permissions Guidelines Privacy Policy & Terms of Use Notice ...

  10. 46 CFR 221.85 - Hearing procedures.

    Science.gov (United States)

    2010-10-01

    ... § 221.85 Hearing procedures. (a) The Hearing Officer shall conduct a fair and impartial proceeding in... the authentication of any written exhibit or statement. (c) At the close of the Party's presentation...

  11. 31 CFR 8.63 - Hearings.

    Science.gov (United States)

    2010-07-01

    ... preside at the hearing on a complaint for the disbarment or suspension of an attorney, certified public accountant, or enrolled practitioner. Hearings will be stenographically recorded and transcribed and the...

  12. Hearing Loss Signals Need for Diagnosis

    Science.gov (United States)

    ... Products For Consumers Home For Consumers Consumer Updates Hearing Loss Signals Need for Diagnosis Share Tweet Linkedin ... you’re talking loudly? Thinking about ordering a hearing aid or sound amplifier from a magazine or ...

  13. Challenges in IC design for hearing aids

    DEFF Research Database (Denmark)

    Jørgensen, Ivan Harald Holger

    2012-01-01

    Designing modern hearing aids is a formidable challenge. The size of hearing aids is constantly decreasing, making them virtually invisible today. Still, as in all other modern electronics, more and more features are added to these devices driven by the development in modern IC technology....... The demands for performance and features at very low supply voltage and power consumption constantly prove a challenge to the physical design of hearing aids and not at least the design of the ICs for these. As a result of this all large hearing aid manufacturers use fully customized ASICs in their products...... to produce a competitive advantage. This presentation will give a brief insight into the hearing aid market and industry, a brief view of the historic development of hearing aids and an introduction to how a modern hearing is constructed showing the amplifier as the key component in the modern hearing aid...

  14. Interaction Between Syndromic and Non-Syndromic Factors Affecting Speech and Language Development in Treacher-Collins Syndrome

    Directory of Open Access Journals (Sweden)

    Marziyeh Poorjavad

    2011-09-01

    Full Text Available Background: Treacher-Collins syndrome is a congenital craniofacial disorder with multiple anomalies. This syndrome affects the maxilla, mandible, eyes, middle and outer ears, and soft palate. Conductive hearing loss due to the deformities of the middle and external ears is prevalent. The characteristics of this syndrome include multiple and serious threats to normal communication development in children. In this study, speech and language features of a Persian speaking child with this syndrome are presented.Case: The case was an 8-year old girl with Treacher-Collins syndrome and bilateral moderate conductive hearing loss due to atretic canal. In language and speech assessments, moderate hypernasality, numerous compensatory errors and morphosyntactic deficits were observed. There were 13 phonemes that were incorrectly produced at least in one position. Besides, she used 22 types of phonological processes that were abnormal and disappear before the age of three in normal Persian speaking children.Conclusion: Moderate hearing loss, velopharyngeal incompetency, malocclusion and dental anomalies, attention deficit/hyperactivity disorder (ADHD and environmental factors resulted in severe speech and language disorders in this case. These disorders affected her academic performance as well. Moderate hypernasality, numerous compensatory errors, and excessive and abnormal use of phonological processes were not presented as prevalent characteristics of Treacher-Collins syndrome in other resources.

  15. Hearing Loss due to Carbon Monoxide Poisoning

    DEFF Research Database (Denmark)

    Mehrparvar, Amir Houshang; Davari, Mohammad Hossein; Mollasadeghi, Abolfazl

    2013-01-01

    Carbon monoxide poisoning is one of the rare causes of hearing loss which may cause reversible or irreversible, unilateral or bilateral hearing loss after acute or chronic exposure. In this report, we present a case of bilateral sensorineural hearing loss in a secondary smelting workshop worker...... after an acute exposure to carbon monoxide. This complication was diagnosed by pure-tone audiometry and confirmed by transient evoked otoacoustic emissions. Hearing loss has not improved after 3 months of followup....

  16. Sensorineural hearing loss after magnetic resonance imaging

    DEFF Research Database (Denmark)

    Mollasadeghi, Abolfazl; Mehrparvar, Amir Houshang; Atighechi, Saeid

    2013-01-01

    Magnetic resonance imaging (MRI) devices produce noise, which may affect patient's or operators' hearing. Some cases of hearing impairment after MRI procedure have been reported with different patterns (temporary or permanent, unilateral or bilateral, with or without other symptoms like tinnitus......). In this report, a case of bilateral sensorineural hearing loss in an otherwise healthy patient underwent brain MRI was described. The patient's hearing loss was accompanied with tinnitus and was not improved after 3 months of followup....

  17. Genetic mutations in non-syndromic deafness patients of uyghur and han chinese ethnicities in xinjiang, China: a comparative study

    Directory of Open Access Journals (Sweden)

    Kuyaxi Pilidong

    2011-09-01

    Full Text Available Abstract Background The deafness-associated gene mutation profile varies greatly among regions and races. Due to the multi-ethnic coalition of over one thousand years, non-syndromic deafness (NSD patients of Uyghur ethnicity may exhibit a unique deafness-associated gene mutation spectrum as compared to Han Chinese deaf population. Methods In order to characterize nine loci of four deafness-associated genes of Uyghur NSD patients in comparison with Chinese Han deaf population, NSD patients (n = 350 were enrolled, including Uyghur (n = 199 and Han Chinese (n = 151. Following the history taking, blood samples were collected for DNA extraction. DNA microarray was performed on nine loci of four deafness-associated genes, including 35delG, 176-191del16, 235delC, 299-300delAT, 538C > T, 1555A > G, 1494C > T, 2168A > G, and IVS7-2A > G. The samples that showed the absence of both wild and mutant probe signals were tested for further DNA sequencing analysis. Results The mutations in the nine loci of prevalent deafness-associated genes were detected in 13.06% of Uyghur NSD patients and 32.45% of Han Chinese patients (P GJB2 mutation was detected in 9.05% of Uyghur patients and 16.56% of Han Chinese patients (P > 0.05, respectively. 235delC was the hotspot mutation region in NSD patients of the two ethnicities, whereas 35delG was the mutation hotspot in Uyghur patients. 187delG mutation was detected for the first time in Uyghur NSD patients and considered as an unreported pathological variant of GJB2. SLC26A4 mutation was found in 2.01% of Uyghur patients and 14.57% of Han Chinese patients (P P > 0.05, respectively. The NSD patients exhibited a low frequency of GJB3 mutation regardless of ethnicity. Conclusion Prevalent deafness-associated gene mutations in the nine loci studied were less frequently detected in Uyghur NSD patients than in Han Chinese patients. GJB2 was the most common mutant gene in the two ethnicities, whilst the two ethnicities differed

  18. Online Personalization of Hearing Instruments

    Directory of Open Access Journals (Sweden)

    Bert de Vries

    2008-09-01

    Full Text Available Online personalization of hearing instruments refers to learning preferred tuning parameter values from user feedback through a control wheel (or remote control, during normal operation of the hearing aid. We perform hearing aid parameter steering by applying a linear map from acoustic features to tuning parameters. We formulate personalization of the steering parameters as the maximization of an expected utility function. A sparse Bayesian approach is then investigated for its suitability to find efficient feature representations. The feasibility of our approach is demonstrated in an application to online personalization of a noise reduction algorithm. A patient trial indicates that the acoustic features chosen for learning noise control are meaningful, that environmental steering of noise reduction makes sense, and that our personalization algorithm learns proper values for tuning parameters.

  19. Noise-induced hearing loss

    Directory of Open Access Journals (Sweden)

    Mariola Sliwinska-Kowalska

    2012-01-01

    Full Text Available Noise-induced hearing loss (NIHL still remains a problem in developed countries, despite reduced occupational noise exposure, strict standards for hearing protection and extensive public health awareness campaigns. Therefore NIHL continues to be the focus of noise research activities. This paper summarizes progress achieved recently in our knowledge of NIHL. It includes papers published between the years 2008-2011 (in English, which were identified by a literature search of accessible medical and other relevant databases. A substantial part of this research has been concerned with the risk of NIHL in the entertainment sector, particularly in professional, orchestral musicians. There are also constant concerns regarding noise exposure and hearing risk in "hard to control" occupations, such as farming and construction work. Although occupational noise has decreased since the early 1980s, the number of young people subject to social noise exposure has tripled. If the exposure limits from the Noise at Work Regulations are applied, discotheque music, rock concerts, as well as music from personal music players are associated with the risk of hearing loss in teenagers and young adults. Several recent research studies have increased the understanding of the pathomechanisms of acoustic trauma, the genetics of NIHL, as well as possible dietary and pharmacologic otoprotection in acoustic trauma. The results of these studies are very promising and offer grounds to expect that targeted therapies might help prevent the loss of sensory hair cells and protect the hearing of noise-exposed individuals. These studies emphasize the need to launch an improved noise exposure policy for hearing protection along with developing more efficient norms of NIHL risk assessment.

  20. 29 CFR 1922.6 - Investigational hearings.

    Science.gov (United States)

    2010-07-01

    ... Regulations Relating to Labor (Continued) OCCUPATIONAL SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR (CONTINUED) INVESTIGATIONAL HEARINGS UNDER SECTION 41 OF THE LONGSHOREMEN'S AND HARBOR WORKERS' COMPENSATION ACT § 1922.6 Investigational hearings. The Chairman shall regulate the course of the hearing; dispose...

  1. 29 CFR 1921.21 - Hearing examiners.

    Science.gov (United States)

    2010-07-01

    ... Regulations Relating to Labor (Continued) OCCUPATIONAL SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR... WORKERS' COMPENSATION ACT Miscellaneous § 1921.21 Hearing examiners. (a) Who presides. All hearings shall be presided over by a hearing examiner appointed under section 11 of the Administrative Procedure Act...

  2. 39 CFR 962.7 - Hearing location.

    Science.gov (United States)

    2010-07-01

    ... 39 Postal Service 1 2010-07-01 2010-07-01 false Hearing location. 962.7 Section 962.7 Postal Service UNITED STATES POSTAL SERVICE PROCEDURES RULES OF PRACTICE IN PROCEEDINGS RELATIVE TO THE PROGRAM FRAUD CIVIL REMEDIES ACT § 962.7 Hearing location. An oral hearing under this part shall be held (a) In...

  3. 7 CFR 273.15 - Fair hearings.

    Science.gov (United States)

    2010-01-01

    ... in the event it is not possible for the household to attend the scheduled hearing. (2) Specify that... with due process to insure an orderly hearing; (v) Order, where relevant and useful, an independent..., shall constitute the exclusive record for a final decision by the hearing authority. This record shall...

  4. Speech and Hearing Problems among Older People.

    Science.gov (United States)

    Carstenson, Blue

    1978-01-01

    Findings from speech and hearing tests of older people in South Dakota community senior programs indicate the need for better testing and therapy procedures. Lipreading may be more effective than hearing aids, and factors other than hearing may be involved. Some problems and needs are noted. (MF)

  5. 37 CFR 251.41 - Formal hearings.

    Science.gov (United States)

    2010-07-01

    ... ARBITRATION ROYALTY PANEL RULES AND PROCEDURES COPYRIGHT ARBITRATION ROYALTY PANEL RULES OF PROCEDURE Procedures of Copyright Arbitration Royalty Panels § 251.41 Formal hearings. (a) The formal hearings that will be conducted under the rules of this subpart are rate adjustment hearings and royalty fee...

  6. 19 CFR 210.62 - Evidentiary hearing.

    Science.gov (United States)

    2010-04-01

    ... 19 Customs Duties 3 2010-04-01 2010-04-01 false Evidentiary hearing. 210.62 Section 210.62 Customs Duties UNITED STATES INTERNATIONAL TRADE COMMISSION INVESTIGATIONS OF UNFAIR PRACTICES IN IMPORT TRADE ADJUDICATION AND ENFORCEMENT Temporary Relief § 210.62 Evidentiary hearing. An opportunity for a hearing in...

  7. Adult hearing screening: the Cyprus Pilot Program

    Directory of Open Access Journals (Sweden)

    C. Thodi

    2011-03-01

    Full Text Available Hearing loss is the third most common condition affecting adults over 65 (Cruickshanks et al., 1998. It can affect quality of life, limiting the ability to communicate efficiently, and leading to isolation, psychological strain, and functional decline (LaForge, Spector, Sternberg, 1992; Yueh, Shapiro, MacLean, Shekelle, 2003. Communication limitations impinge on the person directly, as well as the family, friends, and social circle. Reports on hearing loss among adults indicate that less than 25% of people who can benefit from amplification are actually using hearing aids, and that people diagnosed with a hearing loss delay seeking amplification by about seven years (Kochkin, 1997. Often, family members are the driving force behind a person with a hearing loss who decides to seek help. Adult hearing screening programs might have a positive effect on raising public awareness on hearing loss and its implications, and shortening delay time for intervention. There is no routine hearing screening for the adult population in Cyprus. The health system provides hearing tests for beneficiaries upon physician recommendation or self-referral. The Cyprus pilot adult hearing screening program (ΑΠΑΣ- EVERYONE- Greek acronym for Screening- Intervention-Hearing-Participation to Life screened hearing in retired adults.

  8. 49 CFR 190.327 - Hearings.

    Science.gov (United States)

    2010-10-01

    ... scheduling of a hearing. A petition is granted only if the petitioner shows good cause for a hearing. If a... Other Regulations Relating to Transportation (Continued) PIPELINE AND HAZARDOUS MATERIALS SAFETY... not provide for a hearing, any interested person may petition the Administrator for an informal...

  9. Apps for Hearing Science and Care.

    Science.gov (United States)

    Paglialonga, Alessia; Tognola, Gabriella; Pinciroli, Francesco

    2015-09-01

    Our research aims at the identification and assessment of applications (referred to as apps) in the hearing health care domain. This research forum article presents an overview of the current availability, affordability, and variety of hearing-related apps. The available apps were reviewed by searching on the leading platforms (iOS, Android, Windows Phone stores) using the keywords hearing, audiology, audio, auditory, speech, language, tinnitus, hearing loss, hearing aid, hearing sys tem, cochlear implant, implantable device, auditory training, hearing rehabilitation, and assistive technology/tool/device. O n the bas is of the offered services, apps were classified into 4 application domains: (a) screening and assessment, (b) intervention and rehabilitation, (c) education and information, and (d) assistive tools. A large variety of apps are available in the hearing health care domain. These cover a wide range of services for people with hearing or communication problems as well as for hearing professionals, families, or informal caregivers. This evolution can potentially bring along considerable advantages and improved outcomes in the field of hearing health care. Nevertheless, potential risks and threats (e.g., safety, quality, effectiveness, privacy, and regulation) should not be overlooked. Significant research—particularly in terms of assessment and guidance—is still needed for the informed, aware, and safe adoption of hearing-related apps by patients and professionals.

  10. Hearing Loss due to Carbon Monoxide Poisoning

    DEFF Research Database (Denmark)

    Mehrparvar, Amir Houshang; Davari, Mohammad Hossein; Mollasadeghi, Abolfazl

    2013-01-01

    Carbon monoxide poisoning is one of the rare causes of hearing loss which may cause reversible or irreversible, unilateral or bilateral hearing loss after acute or chronic exposure. In this report, we present a case of bilateral sensorineural hearing loss in a secondary smelting workshop worker a...

  11. 29 CFR 1905.26 - Hearings.

    Science.gov (United States)

    2010-07-01

    ... OCCUPATIONAL SAFETY AND HEALTH ACT OF 1970 Hearings § 1905.26 Hearings. (a) Order of proceeding. Except as may... 29 Labor 5 2010-07-01 2010-07-01 false Hearings. 1905.26 Section 1905.26 Labor Regulations Relating to Labor (Continued) OCCUPATIONAL SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR RULES OF...

  12. 19 CFR 207.24 - Hearing.

    Science.gov (United States)

    2010-04-01

    ... 19 Customs Duties 3 2010-04-01 2010-04-01 false Hearing. 207.24 Section 207.24 Customs Duties... EXPORTS TO THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.24 Hearing. (a) In general. The Commission shall hold a hearing concerning an investigation before making a final...

  13. 22 CFR 16.12 - Hearing.

    Science.gov (United States)

    2010-04-01

    ... 22 Foreign Relations 1 2010-04-01 2010-04-01 false Hearing. 16.12 Section 16.12 Foreign Relations DEPARTMENT OF STATE PERSONNEL FOREIGN SERVICE GRIEVANCE SYSTEM § 16.12 Hearing. (a) Appearances and... reasonable number of agency representatives, are entitled to be present at the hearing. The Grievance Board...

  14. 49 CFR 107.321 - Hearing.

    Science.gov (United States)

    2010-10-01

    ... 49 Transportation 2 2010-10-01 2010-10-01 false Hearing. 107.321 Section 107.321 Transportation... PROCEDURES Enforcement Compliance Orders and Civil Penalties § 107.321 Hearing. (a) To the extent practicable, the hearing is held in the general vicinity of the place where the alleged violation occurred or at a...

  15. 43 CFR 4.1373 - Hearing.

    Science.gov (United States)

    2010-10-01

    ... 43 Public Lands: Interior 1 2010-10-01 2010-10-01 false Hearing. 4.1373 Section 4.1373 Public Lands: Interior Office of the Secretary of the Interior DEPARTMENT HEARINGS AND APPEALS PROCEDURES Special Rules Applicable to Surface Coal Mining Hearings and Appeals Review of Osm Decisions Proposing to...

  16. 76 FR 66126 - Notice of Public Hearing

    Science.gov (United States)

    2011-10-25

    ... of Public Hearing The Central Oregon and Pacific Railroad (CORP) has petitioned the Federal Railroad..., FRA has determined that a public hearing is necessary before a final decision is made on this proposal. Accordingly, FRA invites all interested persons to participate in a public hearing on December 1, 2011. The...

  17. 43 CFR 4.1383 - Hearing.

    Science.gov (United States)

    2010-10-01

    ... 43 Public Lands: Interior 1 2010-10-01 2010-10-01 false Hearing. 4.1383 Section 4.1383 Public Lands: Interior Office of the Secretary of the Interior DEPARTMENT HEARINGS AND APPEALS PROCEDURES Special Rules Applicable to Surface Coal Mining Hearings and Appeals Review of Office of Surface Mining...

  18. 7 CFR 3.77 - Hearing.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 1 2010-01-01 2010-01-01 false Hearing. 3.77 Section 3.77 Agriculture Office of the Secretary of Agriculture DEBT MANAGEMENT Federal Salary Offset § 3.77 Hearing. (a) If an employee timely files a petition for a hearing under section 3.75, USDA shall select the time, date, and location for...

  19. The Danish hearing in noise test

    DEFF Research Database (Denmark)

    Nielsen, Jens Bo; Dau, Torsten

    2010-01-01

    Objective : A Danish version of the hearing in noise test (HINT) has been developed and evaluated in normal-hearing (NH) and hearing-impaired (HI) listeners. The speech material originated from Nielsen & Dau (2009) where a sentence-based intelligibility equalization method was presented. Design...

  20. 78 FR 64037 - Notice of Hearing

    Science.gov (United States)

    2013-10-25

    ... No. 7] Notice of Hearing AGENCY: Privacy and Civil Liberties Oversight Board (PCLOB). ACTION: Notice of a hearing. SUMMARY: The Privacy and Civil Liberties Oversight Board (PCLOB) will conduct a public hearing with current and former government officials and others to address the activities and...

  1. 75 FR 12584 - Sunshine Act; Public Hearing

    Science.gov (United States)

    2010-03-16

    ... OVERSEAS PRIVATE INVESTMENT CORPORATION Sunshine Act; Public Hearing March 17, 2010. OPIC's Sunshine Act notice of its Public Hearing in Conjunction with each Board meeting was published in the... provide testimony or submit written statements for the record; therefore, OPIC's public hearing scheduled...

  2. 49 CFR 209.209 - Hearing.

    Science.gov (United States)

    2010-10-01

    ... 49 Transportation 4 2010-10-01 2010-10-01 false Hearing. 209.209 Section 209.209 Transportation... TRANSPORTATION RAILROAD SAFETY ENFORCEMENT PROCEDURES Compliance Orders § 209.209 Hearing. (a) When a respondent... and the respondent fail to agree upon an acceptable consent order, the hearing officer designated by...

  3. 15 CFR 0.735-46 - Hearing.

    Science.gov (United States)

    2010-01-01

    ... 15 Commerce and Foreign Trade 1 2010-01-01 2010-01-01 false Hearing. 0.735-46 Section 0.735-46... Disciplinary Actions Concerning Post-Employment Conflict of Interest Violations § 0.735-46 Hearing. (a) Examiner. (1) Upon timely receipt of a request for a hearing, the Director shall refer the matter to the...

  4. 75 FR 53303 - Notice of Public Hearing

    Science.gov (United States)

    2010-08-31

    ... FINANCIAL CRISIS INQUIRY COMMISSION Notice of Public Hearing AGENCY: Financial Crisis Inquiry Commission. ACTION: Notice. SUMMARY: The next public hearing of the Financial Crisis Inquiry Commission (FCIC....gov . DATES: The hearing will be held on: Wednesday, September 1, 2010, 9 a.m. EDT; and Thursday...

  5. 45 CFR 32.5 - Hearing.

    Science.gov (United States)

    2010-10-01

    ... 45 Public Welfare 1 2010-10-01 2010-10-01 false Hearing. 32.5 Section 32.5 Public Welfare DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL ADMINISTRATION ADMINISTRATIVE WAGE GARNISHMENT § 32.5 Hearing. (a) In general. Upon timely written request of the debtor, the Secretary shall provide a hearing...

  6. Attitudes hearing impaired children face from hearing people : a case study from Wollega, Ethiopia

    OpenAIRE

    Olika, Ruth Erin Liselott

    2009-01-01

    The aim of this research is to find out what kind of attitudes that hearing impaired children face from hearing people, and how these attitudes influence the hearing impaired child’s life. This is a qualitative research project with interview as the instrument of collecting data. The interviews were conducted in Wollega, Ethiopia with four different informant groups: Children with hearing impairment (CWHI), their parents (Parents CWHI), Children with hearing (CWH), and their parents (Parents ...

  7. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

    Science.gov (United States)

    Ebermann, Inga; Scholl, Hendrik P N; Charbel Issa, Peter; Becirovic, Elvir; Lamprecht, Jürgen; Jurklies, Bernhard; Millán, José M; Aller, Elena; Mitter, Diana; Bolz, Hanno

    2007-04-01

    Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction, and visual impairment due to retinitis pigmentosa (RP). The seven proteins that have been identified for Usher syndrome type 1 (USH1) and type 2 (USH2) may interact in a large protein complex. In order to identify novel USH genes, we followed a candidate strategy, assuming that mutations in proteins interacting with this "USH network" may cause Usher syndrome as well. The DFNB31 gene encodes whirlin, a PDZ scaffold protein with expression in both hair cell stereocilia and retinal photoreceptor cells. Whirlin represents an excellent candidate for USH2 because it binds to Usherin (USH2A) and VLGR1b (USH2C). Genotyping of microsatellite markers specific for the DFNB31 gene locus on chromosome 9q32 was performed in a German USH2 family that had been excluded for all known USH loci. Patients showed common haplotypes. Sequence analysis of DFNB31 revealed compound heterozygosity for a nonsense mutation, p.Q103X, in exon 1, and a mutation in the splice donor site of exon 2, c.837+1G>A. DFNB31 mutations appear to be a rare cause of Usher syndrome, since no mutations were identified in an additional 96 USH2 patients. While mutations in the C-terminal half of whirlin have previously been reported in non-syndromic deafness (DFNB31), both alterations identified in our USH2 family affect the long protein isoform. We propose that mutations causing Usher syndrome are probably restricted to exons 1-6 that are specific for the long isoform and probably crucial for retinal function. We describe a novel genetic subtype for Usher syndrome, which we named USH2D and which is caused by mutations in whirlin. Moreover, this is the first case of USH2 that is allelic to non-syndromic deafness.

  8. Hearing in young adults. Part I: The effects of attitudes and beliefs toward noise, hearing loss, and hearing protector devices

    Directory of Open Access Journals (Sweden)

    Hannah Keppler

    2015-01-01

    Full Text Available There is great concern regarding the development of noise-induced hearing loss (NIHL in youth caused by high sound levels during various leisure activities. Health-orientated behavior of young adults might be linked to the beliefs and attitudes toward noise, hearing loss, and hearing protector devices (HPDs. The objective of the current study was to evaluate the effects of attitudes and beliefs toward noise, hearing loss, and HPDs on young adults′ hearing status. A questionnaire and an audiological test battery were completed by 163 subjects (aged 18-30 years. The questionnaire contained the Youth Attitude to Noise Scale (YANS and Beliefs about Hearing Protection and Hearing Loss (BAHPHL. A more positive attitude or belief represented an attitude where noise or hearing loss is seen as unproblematic and attitudes and beliefs regarding HPDs is worse. Hearing was evaluated using (high frequency pure tone audiometry (PTA, transient evoked and distortion product otoacoustic emissions. First, mean differences in hearing between the groups with different attitudes and beliefs were evaluated using one-way analysis of variance (ANOVA. Second, a χ2 test was used to examine the usage of HPDs by the different groups with different attitudes and beliefs. Young adults with a positive attitude had significantly more deteriorated hearing and used HPDs less than the other subjects. Hearing conservation programs (HCPs for young adults should provide information and knowledge regarding noise, hearing loss, and HPDs. Barriers wearing HPDs should especially be discussed. Further, those campaigns should focus on self-experienced hearing related symptoms that might serve as triggers for attitudinal and behavioral changes.

  9. Hearing Loss in Cryptococcal Meningitis Survivors

    OpenAIRE

    Lofgren, Sarah; Montgomery, Martha; Yueh, Nathan; Namudde, Alice; Rhein, Joshua; Abassi, Mahsa; Musubire, Abdu; Meya, David; Boulware, David

    2017-01-01

    Abstract Background Hearing loss is a known complication cryptococcal meningitis (CM); however, there is a paucity of data. We aimed to describe hearing loss in CM survivors. Methods We assessed hearing via audiometry 8 and 18 weeks after diagnosis of CM in Kampala, Uganda from 2015-2016. We measured at 0.5, 1, 2, 4 Hz. Normal hearing was defined as minimum hearing level at 25 cm H2O 113 24 (71%) 28 (45%) 0.017 Average Opening Pressure >20 cm H20 96 34 (81%) 43 (61%) 0.025 Quantitative Cultur...

  10. Screening Newborns' Hearing Now Standard | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... Possible Hearing Problem Your Baby's Hearing and Communicative Development Checklist Communication Considerations —for parents of children with hearing loss Cochlear Implants —surgically implanted hearing ...

  11. Hearing aids with no batteries

    DEFF Research Database (Denmark)

    Day, Dennis

    2011-01-01

    In this paper I wish to offer a characterization of 'skilled practitioners' from an Ethnomethodological perspective. The skilled practitioner in question is a generic 'hard of hearing' person. The ambition is that such a characterization, both in its making and its final state, may be an intrinsi...

  12. Evolutionary trends in directional hearing

    DEFF Research Database (Denmark)

    Carr, Catherine E; Christensen-Dalsgaard, Jakob

    2016-01-01

    Tympanic hearing is a true evolutionary novelty that arose in parallel within early tetrapods. We propose that in these tetrapods, selection for sound localization in air acted upon pre-existing directionally sensitive brainstem circuits, similar to those in fishes. Auditory circuits in birds...

  13. 77 FR 16043 - Public Hearing

    Science.gov (United States)

    2012-03-19

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health Public Hearing SUMMARY: The National Institutes of Health (NIH) will hold a public meeting on Thursday, April 19, 2012, from 6:30-9:30 p.m. at Roxbury Community College, Main Stage, 1234 Columbus Avenue, Boston, MA 02120. The [[Page...

  14. Due Process Hearing Case Study

    Science.gov (United States)

    Bateman, David F.

    2009-01-01

    William is 9 years of age, residing with his parent within the boundaries of an unnamed district ("the District"). As a student with autism he is eligible for special education programming and services. There was one issue presented for this due process hearing: What was the appropriate program and placement for him for the 2008-2009 school year?…

  15. Moth hearing and sound communication

    DEFF Research Database (Denmark)

    Nakano, Ryo; Takanashi, Takuma; Surlykke, Annemarie

    2015-01-01

    Active echolocation enables bats to orient and hunt the night sky for insects. As a counter-measure against the severe predation pressure many nocturnal insects have evolved ears sensitive to ultrasonic bat calls. In moths bat-detection was the principal purpose of hearing, as evidenced by compar......Active echolocation enables bats to orient and hunt the night sky for insects. As a counter-measure against the severe predation pressure many nocturnal insects have evolved ears sensitive to ultrasonic bat calls. In moths bat-detection was the principal purpose of hearing, as evidenced...... by comparable hearing physiology with best sensitivity in the bat echolocation range, 20–60 kHz, across moths in spite of diverse ear morphology. Some eared moths subsequently developed sound-producing organs to warn/startle/jam attacking bats and/or to communicate intraspecifically with sound. Not only...... the sounds for interaction with bats, but also mating signals are within the frequency range where bats echolocate, indicating that sound communication developed after hearing by “sensory exploitation”. Recent findings on moth sound communication reveal that close-range (~ a few cm) communication with low...

  16. Risk factors for hearing loss in neonates

    Directory of Open Access Journals (Sweden)

    Ni Luh Putu Maharani

    2016-11-01

    Full Text Available Background An estimated 6 of 1,000 children with live births suffer from permanent hearing loss at birth or the neonatal period. At least 90% of cases occur in developing countries. Hearing loss should be diagnosed as early as possible so that intervention can be done before the age of 6 months. Objective To determine risk factors for hearing loss in neonates. Methods We performed a case-control study involving 100 neonates with and without hearing loss who were born at Sanglah Hospital, Denpasar from November 2012 to February 2013. Subjects were consisted of 2 groups, those with hearing loss (case group of 50 subjects and without hearing loss (control group of 50 subjects. The groups were matched for gender and birth weight. We assessed the following risk factors for hearing loss: severe neonatal asphyxia, hyperbilirubinemia, meningitis, history of aminoglycoside therapy, and mechanical ventilation by Chi-square analysis. The results were presented as odds ratio and its corresponding 95% confidence intervals. Results Seventy percent of neonates with hearing loss had history of aminoglycoside therapy. Multivariable analysis revealed that aminoglycoside therapy of 14 days or more was a significant risk factor for hearing loss (OR 2.7; 95%CI 1.1 to 6.8; P=0.040. There were no statistically significant associations between hearing loss and severe asphyxia, hyperbilirubinemia, meningitis, or mechanical ventilation. Conclusion Aminoglycoside therapy for >=14 days was identified as a risk factor for hearing loss in neonates.

  17. Sudden bilateral hearing loss after organophosphate inhalation

    Directory of Open Access Journals (Sweden)

    Mehmet Akif Dundar

    2016-12-01

    Full Text Available Sudden bilateral hearing loss are seen rarely and the toxic substance exposure constitutes a small part of etiology. A Fifty-eight-year-old woman admitted to our clinic with sudden bilateral hearing loss shortly after chlorpyrifos-ethyl exposure. Otolaryngologic examination findings were normal. The patient had 40 dB sensorineural hearing loss (SNHL on the right ear and 48 dB SNHL on the left ear. Additional diagnostic tests were normal. The conventional treatment for sudden hearing loss was performed. On the second week following organophosphate (OP exposure the patient's hearing loss almost completely resolved. OP's are heavily used in agriculture and should be taken into consideration as an etiologic factor in sudden hearing loss. Keywords: Organophosphates, Hearing loss, Sudden

  18. Self-Fitting Hearing Aids

    Directory of Open Access Journals (Sweden)

    Gitte Keidser

    2016-04-01

    Full Text Available A self-contained, self-fitting hearing aid (SFHA is a device that enables the user to perform both threshold measurements leading to a prescribed hearing aid setting and fine-tuning, without the need for audiological support or access to other equipment. The SFHA has been proposed as a potential solution to address unmet hearing health care in developing countries and remote locations in the developed world and is considered a means to lower cost and increase uptake of hearing aids in developed countries. This article reviews the status of the SFHA and the evidence for its feasibility and challenges and predicts where it is heading. Devices that can be considered partly or fully self-fitting without audiological support were identified in the direct-to-consumer market. None of these devices are considered self-contained as they require access to other hardware such as a proprietary interface, computer, smartphone, or tablet for manipulation. While there is evidence that self-administered fitting processes can provide valid and reliable results, their success relies on user-friendly device designs and interfaces and easy-to-interpret instructions. Until these issues have been sufficiently addressed, optional assistance with the self-fitting process and on-going use of SFHAs is recommended. Affordability and a sustainable delivery system remain additional challenges for the SFHA in developing countries. Future predictions include a growth in self-fitting products, with most future SFHAs consisting of earpieces that connect wirelessly with a smartphone and providers offering assistance through a telehealth infrastructure, and the integration of SFHAs into the traditional hearing health-care model.

  19. Improving hearing health for farming families.

    Science.gov (United States)

    Lower, Tony; Fragar, Lyn; Depcynzksi, Julie; Challinor, Kathy; Mills, Jan; Williams, Warwick

    2010-01-01

    Occupational noise injury and hearing loss are common features of agricultural workforces internationally. Farmsafe Australia has identified hearing health as one of its 4 key priority goals and targets. Currently, approximately 60-70% of Australian farmers have measurable hearing loss, compared with 27% of those in the general Australian community. This article describes the findings of a community based demonstration project to address hearing health issues conducted in the Australian state of New South Wales. This program sought to implement local demonstration projects in 3 communities to identify what works well in hearing health promotion with farmers and what could be applied more broadly throughout Australia. Local advisory groups were established in each community to guide project development and implementation. Project implementation focused on 3 major aspects: (1) increasing awareness of priority noise injury prevention and hearing health practices; (2) improving access to hearing health services; and (3) networking services in local communities. Area-specific training was undertaken for stakeholders to maximize local information links. Service utilization data were monitored and analysed. There was variability among sites; however in general there was an increased awareness of hearing health issues by farming families and expanded opportunities for farmers to access screening services. Utilization rates of hearing services also increased markedly in one community. Local hearing health networks were strengthened by linkages to key stakeholders outside the health sector. Previously unidentified methods of promoting hearing health (eg using agricultural retail outlets that supply hearing protection equipment and are accepted by farmers as an information source) were identified and utilized. Hearing health promotion with farmers in local communities can be enhanced through utilization and strengthening of local networks. Integration of hearing health

  20. Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL [+-] P)

    Energy Technology Data Exchange (ETDEWEB)

    Shaw, D.; Field, L. (Univ. of Calgary (Canada)); Ray, A. (Univ. of Toronto (Canada)); Marazita, M. (Medical College of Virginia, Richmond, VA (United States))

    1993-11-01

    Chenevix-Trench et al. (1992) reported a significant difference between nonsyndromic cleft lip with or without cleft palate (CL [+-] P) cases and unrelated controls in the frequency of alleles at the retinoic acid receptor alpha (RARA) PstI RFLP located at 17q21.1. They also observed borderline significant (P = .055) differences between allele frequencies in subjects with cleft lip and palate (CL + P) compared with those with cleft lip only (CL). Retinoic acid (RA) is a known teratogen capable of producing cleft palate in rodents (Abbott and Birnbaum 1990). Chenevix-Tench et al. (1992) hypothesized that variation in susceptibility to the effects of RA in humans may result from alterations at the RARA locus. We have investigated association and linkage between CL [+-] P and a microsatellite marker (D17S579) located at 17q21 (Hall et al. 1992), selected for its proximity to RARA, in 14 extended multiplex families from rural West Bengal, India.

  1. Nonsyndromic cleft lip with or without cleft palate: Increased burden of rare variants within Gremlin-1, a component of the bone morphogenetic protein 4 pathway.

    Science.gov (United States)

    Al Chawa, Taofik; Ludwig, Kerstin U; Fier, Heide; Pötzsch, Bernd; Reich, Rudolf H; Schmidt, Gül; Braumann, Bert; Daratsianos, Nikolaos; Böhmer, Anne C; Schuencke, Hannah; Alblas, Margrieta; Fricker, Nadine; Hoffmann, Per; Knapp, Michael; Lange, Christoph; Nöthen, Markus M; Mangold, Elisabeth

    2014-06-01

    The genes Gremlin-1 (GREM1) and Noggin (NOG) are components of the bone morphogenetic protein 4 pathway, which has been implicated in craniofacial development. Both genes map to recently identified susceptibility loci (chromosomal region 15q13, 17q22) for nonsyndromic cleft lip with or without cleft palate (nsCL/P). The aim of the present study was to determine whether rare variants in either gene are implicated in nsCL/P etiology. The complete coding regions, untranslated regions, and splice sites of GREM1 and NOG were sequenced in 96 nsCL/P patients and 96 controls of Central European ethnicity. Three burden and four nonburden tests were performed. Statistically significant results were followed up in a second case-control sample (n = 96, respectively). For rare variants observed in cases, segregation analyses were performed. In NOG, four rare sequence variants (minor allele frequency elements. © 2014 Wiley Periodicals, Inc.

  2. Subjective Evaluation of Sound Quality for Normal-hearing and Hearing-i,paired Listeners

    DEFF Research Database (Denmark)

    Nielsen, Lars Bramsløw

    1992-01-01

    11 hearing-impaired (HI) and 12 normal-hearing (NH) subjects have performed sound quality ratings on 6 perceptual scales (Loudness, Clarity, Sharpness, Fullness, Spaciousness and Overall judgement). The signals for the rating experiment consisted of running speech and music with or without......, but the normal-hearing group was slightly more reliable. There were significant differences between stimuli and between subjects, with stimuli affecting the ratings the most. Normal-hearing and hearing-impaired subjects showed similar trends, but normal-hearing listeners were generally more sensitive, i...

  3. Genetics of nonsyndromic obesity.

    Science.gov (United States)

    Lee, Yung Seng

    2013-12-01

    Common obesity is widely regarded as a complex, multifactorial trait influenced by the 'obesogenic' environment, sedentary behavior, and genetic susceptibility contributed by common and rare genetic variants. This review describes the recent advances in understanding the role of genetics in obesity. New susceptibility loci and genetic variants are being uncovered, but the collective effect is relatively small and could not explain most of the BMI heritability. Yet-to-be identified common and rare variants, epistasis, and heritable epigenetic changes may account for part of the 'missing heritability'. Evidence is emerging about the role of epigenetics in determining obesity susceptibility, mediating developmental plasticity, which confers obesity risk from early life experiences. Genetic prediction scores derived from selected genetic variants, and also differential DNA methylation levels and methylation scores, have been shown to correlate with measures of obesity and response to weight loss intervention. Genetic variants, which confer susceptibility to obesity-related morbidities like nonalcoholic fatty liver disease, were also discovered recently. We can expect discovery of more rare genetic variants with the advent of whole exome and genome sequencing, and also greater understanding of epigenetic mechanisms by which environment influences genetic expression and which mediate the gene-environment interaction.

  4. Hear here: children with hearing loss learn words by listening.

    Science.gov (United States)

    Lew, Joyce; Purcell, Alison A; Doble, Maree; Lim, Lynne H

    2014-10-01

    Early use of hearing devices and family participation in auditory-verbal therapy has been associated with age-appropriate verbal communication outcomes for children with hearing loss. However, there continues to be great variability in outcomes across different oral intervention programmes and little consensus on how therapists should prioritise goals at each therapy session for positive clinical outcomes. This pilot intervention study aimed to determine whether therapy goals that concentrate on teaching preschool children with hearing loss how to distinguish between words in a structured listening programme is effective, and whether gains in speech perception skills impact on vocabulary and speech development without them having to be worked on directly in therapy. A multiple baseline across subjects design was used in this within-subject controlled study. 3 children aged between 2:6 and 3:1 with moderate-severe to severe-profound hearing loss were recruited for a 6-week intervention programme. Each participant commenced at different stages of the 10-staged listening programme depending on their individual listening skills at recruitment. Speech development and vocabulary assessments were conducted before and after the training programme in addition to speech perception assessments and probes conducted throughout the intervention programme. All participants made gains in speech perception skills as well as vocabulary and speech development. Speech perception skills acquired were noted to be maintained a week after intervention. In addition, all participants were able to generalise speech perception skills learnt to words that had not been used in the intervention programme. This pilot study found that therapy directed at listening alone is promising and that it may have positive impact on speech and vocabulary development without these goals having to be incorporated into a therapy programme. Although a larger study is necessary for more conclusive findings, the

  5. Identifying hearing loss by means of iridology.

    Science.gov (United States)

    Stearn, Natalie; Swanepoel, De Wet

    2006-11-13

    Isolated reports of hearing loss presenting as markings on the iris exist, but to date the effectiveness of iridology to identify hearing loss has not been investigated. This study therefore aimed to determine the efficacy of iridological analysis in the identification of moderate to profound sensorineural hearing loss in adolescents. A controlled trial was conducted with an iridologist, blind to the actual hearing status of participants, analyzing the irises of participants with and without hearing loss. Fifty hearing impaired and fifty normal hearing subjects, between the ages of 15 and 19 years, controlled for gender, participated in the study. An experienced iridologist analyzed the randomised set of participants' irises. A 70% correct identification of hearing status was obtained by iridological analyses with a false negative rate of 41% compared to a 19% false positive rate. The respective sensitivity and specificity rates therefore came to 59% and 81%. Iridological analysis of hearing status indicated a statistically significant relationship to actual hearing status (P iridology were not comparable to those of traditional audiological screening procedures.

  6. Does hearing aid use affect audiovisual integration in mild hearing impairment?

    Science.gov (United States)

    Gieseler, Anja; Tahden, Maike A S; Thiel, Christiane M; Colonius, Hans

    2018-04-01

    There is converging evidence for altered audiovisual integration abilities in hearing-impaired individuals and those with profound hearing loss who are provided with cochlear implants, compared to normal-hearing adults. Still, little is known on the effects of hearing aid use on audiovisual integration in mild hearing loss, although this constitutes one of the most prevalent conditions in the elderly and, yet, often remains untreated in its early stages. This study investigated differences in the strength of audiovisual integration between elderly hearing aid users and those with the same degree of mild hearing loss who were not using hearing aids, the non-users, by measuring their susceptibility to the sound-induced flash illusion. We also explored the corresponding window of integration by varying the stimulus onset asynchronies. To examine general group differences that are not attributable to specific hearing aid settings but rather reflect overall changes associated with habitual hearing aid use, the group of hearing aid users was tested unaided while individually controlling for audibility. We found greater audiovisual integration together with a wider window of integration in hearing aid users compared to their age-matched untreated peers. Signal detection analyses indicate that a change in perceptual sensitivity as well as in bias may underlie the observed effects. Our results and comparisons with other studies in normal-hearing older adults suggest that both mild hearing impairment and hearing aid use seem to affect audiovisual integration, possibly in the sense that hearing aid use may reverse the effects of hearing loss on audiovisual integration. We suggest that these findings may be particularly important for auditory rehabilitation and call for a longitudinal study.

  7. Comparison of Reading Literacy in Hearing Impaired and Normal Hearing Students

    Directory of Open Access Journals (Sweden)

    Dr. Ali Asghar Kakojoibari

    2011-06-01

    Full Text Available Background and Aim: listening, speaking, reading and writing are considered the lingual skills. These skills are in direct relation with each other. Listening is the first skill learnt by the individual through development. If damaged by hearing impairment, listening can cause serious defect to lingual skills. The goal of our research was to study the effect of hearing loss on reading literacy in hearing impairment students in comparison with normal hearing students.Methods: Study was performed using the examination booklets of Progress in International Reading Literacy Study (PIRLS 2001. 119 hearing impairment students of 4th grade primary school, last year guidance school, and last year high school levels in schools providing exceptional student education were included. These individuals were compared to 46 normal hearing students of 4th grade primary school of ordinary schools. Comparative statistical analysis was performed using t-test.Results: Reading literacy and literal contents understanding was shown to have a significant difference between normal hearing and whole hearing impaired student (p<0.05, except the ones in high school level with moderate hearing loss. There was also seen a significant difference between normal hearing and hearing impairment students in understanding of information contents (p=0.03.Conclusion: Hearing loss has a negative effect on reading literacy. Consequently, curriculum change and evolution of educational programs in exceptional centers is needed, in order to promote reading literacy and to enhance rest hearing

  8. Assessment of hearing and hearing disorders in rock/jazz musicians.

    Science.gov (United States)

    Kähärit, Kim; Zachau, Gunilla; Eklöf, Mats; Sandsjö, Leif; Möller, Claes

    2003-07-01

    The aim of this study was to assess hearing and hearing disorders among rock/jazz musicians. One hundred and thirty-nine (43 women and 96 men) musicians participated. The results are based on pure-tone audiometry and questionnaire responses. According to our definition of hearing loss, tinnitus, hyperacusis, distortion and/or diplacusis as hearing disorders, we found disorders in 74%, of the rock/jazz musicians studied. Hearing loss, tinnitus and hyperacusis were most common, and the latter two were found significantly more frequently than in different reference populations. The women showed bilateral, significantly better hearing thresholds at 3-6 kHz than the men. Hyperacusis, and the combination of both hyperacusis and tinnitus, were found to be significantly more frequent among women than among men. Hearing loss and tinnitus were significantly more common among men than among women. It is important to evaluate all kinds of hearing problems (other than hearing loss) in musicians, since they represent an occupational group especially dependent on optimal, functional hearing. On the basis of our results, we suggest that hearing problems such as tinnitus, hyperacusis, distortion and/or diplacusis should, in addition to hearing loss, be defined as hearing disorders.

  9. What factors influence help-seeking for hearing impairment and hearing aid adoption in older adults?

    Science.gov (United States)

    Meyer, Carly; Hickson, Louise

    2012-02-01

    The purpose of this review paper was to identify factors that influence older adults' decisions to seek help for hearing impairment and to adopt hearing aids. A literature search of abstracts within peer-reviewed journal articles published in English between 1990 and 2010 was conducted in online bibliographic databases using the keywords: hearing; impair* or loss; seek* or candidate* or applicant* or acquir*; and hearing aid* or help or advice. Twenty-two articles that were directly relevant to this topic were included in this review. The evidence suggests that individuals are more likely to seek help for hearing impairment and/or adopt hearing aids if they: (1) have a moderate to severe hearing impairment and self-reported hearing-related activity limitations or participation restrictions; (2) are older; (3) perceive their hearing as poor; (4) consider there to be more benefits than barriers to amplification; and (5) perceive their significant other/s as supportive of hearing rehabilitation. A barrier to help-seeking for hearing impairment and hearing aid adoption appears to be general practitioners' management of age-related hearing impairment.

  10. 46 CFR 203.5 - Types of hearings.

    Science.gov (United States)

    2010-10-01

    ... 46 Shipping 8 2010-10-01 2010-10-01 false Types of hearings. 203.5 Section 203.5 Shipping MARITIME... CERTAIN HEARINGS UNDER THE MERCHANT MARINE ACT, 1936, AS AMENDED § 203.5 Types of hearings. (a) Oral... seeking the oral evidentiary hearing. (b) Hearing on Submission of Written Evidence and Argument: If, upon...

  11. 24 CFR 180.600 - Date and place of hearing.

    Science.gov (United States)

    2010-04-01

    ... AND BUSINESS OPPORTUNITY CONSOLIDATED HUD HEARING PROCEDURES FOR CIVIL RIGHTS MATTERS Procedures at Hearing § 180.600 Date and place of hearing. (a) For Fair Housing Act Cases—(1) Time. The hearing shall... adjourn or continue a hearing for good cause shown. ...

  12. Applications of direct-to-consumer hearing devices for adults with hearing loss: a review

    Directory of Open Access Journals (Sweden)

    Manchaiah V

    2017-05-01

    Full Text Available Vinaya Manchaiah,1–4 Brian Taylor,5 Ashley L Dockens,1 Nicole R Tran,1 Kayla Lane,1 Mariana Castle,1 Vibhu Grover1 1Department of Speech and Hearing Sciences, Lamar University, Beaumont, TX, USA; 2The Swedish Institute for Disability Research, Department of Behavioural Sciences and Learning, Linköping University, Linköping, Sweden; 3Audiology India, Mysore, 4Department of Speech and Hearing, School of Allied Health Sciences, Manipal University, Manipal, India; 5Taylor Audio LLC, Minneapolis, MN, USA Background: This systematic literature review is aimed at investigating applications of direct-to-consumer hearing devices for adults with hearing loss. This review discusses three categories of direct-to-consumer hearing devices: 1 personal sound amplification products (PSAPs, 2 direct-mail hearing aids, and 3 over-the-counter (OTC hearing aids.Method: A literature review was conducted using EBSCOhost and included the databases CINAHL, MEDLINE, and PsycINFO. After applying prior agreed inclusion and exclusion criteria, 13 reports were included in the review.Results: Included studies fell into three domains: 1 electroacoustic characteristics, 2 consumer surveys, and 3 outcome evaluations. Electroacoustic characteristics of these devices vary significantly with some meeting the stringent acoustic criteria used for hearing aids, while others producing dangerous output levels (ie, over 120-dB sound pressure level. Low-end (or low-cost devices were typically poor in acoustic quality and did not meet gain levels necessary for most adult and elderly hearing loss patterns (eg, presbycusis, especially in high frequencies. Despite direct-mail hearing aids and PSAPs being associated with lower satisfaction when compared to hearing aids purchased through hearing health care professionals, consumer surveys suggest that 5%–19% of people with hearing loss purchase hearing aids through direct-mail or online. Studies on outcome evaluation suggest positive

  13. Radiation Therapy and Hearing Loss

    International Nuclear Information System (INIS)

    Bhandare, Niranjan; Jackson, Andrew; Eisbruch, Avraham; Pan, Charlie C.; Flickinger, John C.; Antonelli, Patrick; Mendenhall, William M.

    2010-01-01

    A review of literature on the development of sensorineural hearing loss after high-dose radiation therapy for head-and-neck tumors and stereotactic radiosurgery or fractionated stereotactic radiotherapy for the treatment of vestibular schwannoma is presented. Because of the small volume of the cochlea a dose-volume analysis is not feasible. Instead, the current literature on the effect of the mean dose received by the cochlea and other treatment- and patient-related factors on outcome are evaluated. Based on the data, a specific threshold dose to cochlea for sensorineural hearing loss cannot be determined; therefore, dose-prescription limits are suggested. A standard for evaluating radiation therapy-associated ototoxicity as well as a detailed approach for scoring toxicity is presented.

  14. Improvements in Speech Understanding With Wireless Binaural Broadband Digital Hearing Instruments in Adults With Sensorineural Hearing Loss

    OpenAIRE

    Kreisman, Brian M.; Mazevski, Annette G.; Schum, Donald J.; Sockalingam, Ravichandran

    2010-01-01

    This investigation examined whether speech intelligibility in noise can be improved using a new, binaural broadband hearing instrument system. Participants were 36 adults with symmetrical, sensorineural hearing loss (18 experienced hearing instrument users and 18 without prior experience). Participants were fit binaurally in a planned comparison, randomized crossover design study with binaural broadband hearing instruments and advanced digital hearing instruments. Following an adjustment peri...

  15. 40 CFR 24.14 - Scheduling the hearing; pre-hearing submissions by the parties.

    Science.gov (United States)

    2010-07-01

    ..., time, location and agenda for the hearing and shall transmit this information to the parties along with... the Presiding Officer at least twenty-one (21) days before the hearing. (2) The Presiding Officer may...

  16. Sensorineural hearing loss and prematurity

    OpenAIRE

    Marlow, E.; Hunt, L.; Marlow, N.

    2000-01-01

    OBJECTIVE—To elucidate clinical antecedents of sensorineural hearing loss (SNHL) in very preterm infants.
DESIGN—Case-control study.
SUBJECTS—Fifteen children < 33 weeks' gestation with significant SNHL born between 1 January 1990 and 31 December 1994, detected within 9 months of birth, and 30 matched control children.
METHODOLOGY—Perinatal variables in the two groups were compared using non-parametric tests and conditional logistic regression (EGRET).
RESULTS—Median birth ...

  17. Autophagy is essential for hearing in mice.

    Science.gov (United States)

    Fujimoto, Chisato; Iwasaki, Shinichi; Urata, Shinji; Morishita, Hideaki; Sakamaki, Yuriko; Fujioka, Masato; Kondo, Kenji; Mizushima, Noboru; Yamasoba, Tatsuya

    2017-05-11

    Hearing loss is the most frequent sensory disorder in humans. Auditory hair cells (HCs) are postmitotic at late-embryonic differentiation and postnatal stages, and their damage is the major cause of hearing loss. There is no measurable HC regeneration in the mammalian cochlea, and the maintenance of cell function is crucial for preservation of hearing. Here we generated mice deficient in autophagy-related 5 (Atg5), a gene essential for autophagy, in the HCs to investigate the effect of basal autophagy on hearing acuity. Deletion of Atg5 resulted in HC degeneration and profound congenital hearing loss. In autophagy-deficient HCs, polyubiquitinated proteins and p62/SQSTM1, an autophagy substrate, accumulated as inclusion bodies during the first postnatal week, and these aggregates increased in number. These findings revealed that basal autophagy has an important role in maintenance of HC morphology and hearing acuity.

  18. Sensorineural hearing loss in hemorrhagic dengue?

    Directory of Open Access Journals (Sweden)

    Bruna Natália Freire Ribeiro

    2015-01-01

    Discussion and conclusion: This is the first case report that brings together DHF and sudden hearing loss. In the development of this case no other cause to sudden hearing loss was found and the correlation between dengue and hearing loss was questioned. In the literature review was found that some viruses, as mumps virus, varicella-zoster virus and HSV-1 and HSV-2 are related to sudden hearing loss, all of them fit in the viral theory. Besides the viral theory of sudden hearing loss, there is the vascular theory that is the occlusion of the end artery that supplies the cochlea. DHF has a vascular commitment, and the hypothesis of a vascular cause could be elicited in this case. Many studies in this area are needed and this article has the objective of elicit the discussion about the subject. Could dengue be associated with sensorineural hearing loss?

  19. Investigation of internal feedback in hearing aids

    DEFF Research Database (Denmark)

    Friis, Lars

    2009-01-01

    with vibroacoustic transmission from the receiver to the microphones often occur during the use of hearing aids. This transmission causes feedback at certain critical gain levels where it produces a loud uncomfortable squealing. Consequently feedback often constitutes the limiting factor for the maximum obtainable...... gain in the hearing aid and it therefore represents a critical design problem. Feedback in hearing aids is usually divided into external and internal feedback. External feedback is caused by the leakage of sound from the ear canal whereas internal feedback is due to transmission of sound and vibrations...... internally in the hearing aid. As a result of reducing the size of hearing aids, manufacturers have experienced an increase in internal feedback problems. The main objective of the present thesis is therefore to examine the vibroacoustic mechanisms responsible for internal feedback in hearing aids...

  20. Hearing status in patients with rheumatoid arthritis.

    Science.gov (United States)

    Ahmadzadeh, A; Daraei, M; Jalessi, M; Peyvandi, A A; Amini, E; Ranjbar, L A; Daneshi, A

    2017-10-01

    Rheumatoid arthritis is thought to induce conductive hearing loss and/or sensorineural hearing loss. This study evaluated the function of the middle ear and cochlea, and the related factors. Pure tone audiometry, speech reception thresholds, speech discrimination scores, tympanometry, acoustic reflexes, and distortion product otoacoustic emissions were assessed in rheumatoid arthritis patients and healthy volunteers. Pure tone audiometry results revealed a higher bone conduction threshold in the rheumatoid arthritis group, but there was no significant difference when evaluated according to the sensorineural hearing loss definition. Distortion product otoacoustic emissions related prevalence of conductive or mixed hearing loss, tympanometry values, acoustic reflexes, and speech discrimination scores were not significantly different between the two groups. Sensorineural hearing loss was significantly more prevalent in patients who used azathioprine, cyclosporine and etanercept. Higher bone conduction thresholds in some frequencies were detected in rheumatoid arthritis patients that were not clinically significant. Sensorineural hearing loss is significantly more prevalent in refractory rheumatoid arthritis patients.

  1. Efficient individualization of hearing aid processed sound

    DEFF Research Database (Denmark)

    Nielsen, Jens Brehm; Nielsen, Jakob

    2013-01-01

    Due to the large amount of options offered by the vast number of adjustable parameters in modern digital hearing aids, it is becoming increasingly daunting—even for a fine-tuning professional—to perform parameter fine tuning to satisfactorily meet the preference of the hearing aid user. In addition......, the communication between the fine-tuning professional and the hearing aid user might muddle the task. In the present paper, an interactive system is proposed to ease and speed up fine tuning of hearing aids to suit the preference of the individual user. The system simultaneously makes the user conscious of his own...... preferences while the system itself learns the user’s preference. Since the learning is based on probabilistic modeling concepts, the system handles inconsistent user feedback efficiently. Experiments with hearing impaired subjects show that the system quickly discovers individual preferred hearing...

  2. Sensorineural hearing loss after magnetic resonance imaging

    DEFF Research Database (Denmark)

    Mollasadeghi, Abolfazl; Mehrparvar, Amir Houshang; Atighechi, Saeid

    2013-01-01

    Magnetic resonance imaging (MRI) devices produce noise, which may affect patient's or operators' hearing. Some cases of hearing impairment after MRI procedure have been reported with different patterns (temporary or permanent, unilateral or bilateral, with or without other symptoms like tinnitus)......). In this report, a case of bilateral sensorineural hearing loss in an otherwise healthy patient underwent brain MRI was described. The patient's hearing loss was accompanied with tinnitus and was not improved after 3 months of followup.......Magnetic resonance imaging (MRI) devices produce noise, which may affect patient's or operators' hearing. Some cases of hearing impairment after MRI procedure have been reported with different patterns (temporary or permanent, unilateral or bilateral, with or without other symptoms like tinnitus...

  3. mtDNA mutation C1494T, haplogroup A, and hearing loss in Chinese

    International Nuclear Information System (INIS)

    Wang Chengye; Kong Qingpeng; Yao Yonggang; Zhang Yaping

    2006-01-01

    Mutation C1494T in mitochondrial 12S rRNA gene was recently reported in two large Chinese families with aminoglycoside-induced and nonsyndromic hearing loss (AINHL) and was claimed to be pathogenic. This mutation, however, was first reported in a sample from central China in our previous study that was aimed to reconstruct East Asian mtDNA phylogeny. All these three mtDNAs formed a subclade defined by mutation C1494T in mtDNA haplogroup A. It thus seems that mutation C1494T is a haplogroup A-associated mutation and this matrilineal background may contribute a high risk for the penetrance of mutation C1494T in Chinese with AINHL. To test this hypothesis, we first genotyped mutation C1494T in 553 unrelated individuals from three regional Chinese populations and performed an extensive search for published complete or near-complete mtDNA data sets (>3000 mtDNAs), we then screened the C1494T mutation in 111 mtDNAs with haplogroup A status that were identified from 1823 subjects across China. The search for published mtDNA data sets revealed no other mtDNA besides the above-mentioned three carrying mutation C1494T. None of the 553 randomly selected individuals and the 111 haplogroup A mtDNAs was found to bear this mutation. Therefore, our results suggest that C1494T is a very rare event. The mtDNA haplogroup A background in general is unlikely to play an active role in the penetrance of mutation C1494T in AINHL

  4. Binaural hearing with electrical stimulation.

    Science.gov (United States)

    Kan, Alan; Litovsky, Ruth Y

    2015-04-01

    Bilateral cochlear implantation is becoming a standard of care in many clinics. While much benefit has been shown through bilateral implantation, patients who have bilateral cochlear implants (CIs) still do not perform as well as normal hearing listeners in sound localization and understanding speech in noisy environments. This difference in performance can arise from a number of different factors, including the areas of hardware and engineering, surgical precision and pathology of the auditory system in deaf persons. While surgical precision and individual pathology are factors that are beyond careful control, improvements can be made in the areas of clinical practice and the engineering of binaural speech processors. These improvements should be grounded in a good understanding of the sensitivities of bilateral CI patients to the acoustic binaural cues that are important to normal hearing listeners for sound localization and speech in noise understanding. To this end, we review the current state-of-the-art in the understanding of the sensitivities of bilateral CI patients to binaural cues in electric hearing, and highlight the important issues and challenges as they relate to clinical practice and the development of new binaural processing strategies. This article is part of a Special Issue entitled . Copyright © 2014 Elsevier B.V. All rights reserved.

  5. Is All Human Hearing Cochlear?

    Directory of Open Access Journals (Sweden)

    Seyede Faranak Emami

    2013-01-01

    Full Text Available The objective of this cross-sectional study was to investigate the possibility that the saccule may contribute to human hearing. The forty participants included twenty healthy people and twenty other subjects selected from patients who presented with benign paroxysmal positional vertigo to Audiology Department of Hazrat Rasoul Akram hospital (Tehran, Iran. Assessments comprised of audiological evaluations, cervical vestibular evoked myogenic potentials (cVEMPs, recognition of spoken phonemes in white noise (Rsp in wn, and auditory brainstem response to 500 Hz tone burst (ABR500 HZ. Twenty affected ears with decreased vestibular excitability as detected by abnormal cVEMPs revealed decreased scores of Rsp in wn and abnormal findings of ABR500 HZ. Both unaffected and normal ears had normal results. Multiple comparisons of mean values of cVEMPs and ABR500 HZ between three groups were significant (P<0.05, ANOVA. The correlation between RSP in wn and p13 latencies was significant. The peak-to-peak amplitudes showed significant correlation to RSP in wn. The correlation between RSP in wn and the latencies of n23 was significant. In high-level of noisy competing situations, healthy human saccular sensation can mediate the detection of low frequencies and possibly help in cochlear hearing for frequency and intensity discrimination. So, all human hearing is not cochlear.

  6. Binaural hearing with electrical stimulation

    Science.gov (United States)

    Kan, Alan; Litovsky, Ruth Y.

    2014-01-01

    Bilateral cochlear implantation is becoming a standard of care in many clinics. While much benefit has been shown through bilateral implantation, patients who have bilateral cochlear implants (CIs) still do not perform as well as normal hearing listeners in sound localization and understanding speech in noisy environments. This difference in performance can arise from a number of different factors, including the areas of hardware and engineering, surgical precision and pathology of the auditory system in deaf persons. While surgical precision and individual pathology are factors that are beyond careful control, improvements can be made in the areas of clinical practice and the engineering of binaural speech processors. These improvements should be grounded in a good understanding of the sensitivities of bilateral CI patients to the acoustic binaural cues that are important to normal hearing listeners for sound localization and speech in noise understanding. To this end, we review the current state-of-the-art in the understanding of the sensitivities of bilateral CI patients to binaural cues in electric hearing, and highlight the important issues and challenges as they relate to clinical practice and the development of new binaural processing strategies. PMID:25193553

  7. Imaging in hearing using radiotracers

    Directory of Open Access Journals (Sweden)

    Berding Georg

    2017-09-01

    Full Text Available Radiotracers offer unique options for brain imaging of functional and molecular processes related to hearing. Such imaging can be applied in a broad spectrum of situations from preclinical research to clinical patient care. Functional imaging to assess activation in brain regions and networks involved in auditory processing uses markers of blood flow or energy-metabolism in well-defined conditions with and without auditory stimulation. Molecular markers can be used in hearing research for example to study changes in inhibitory neurotransmission systems related to hearing loss. For imaging either positron emission tomography (PET or single-photon emission computed tomography (SPECT are employed. Data analysis can encompasses voxel-wise statistical analysis of activation and calculation of quantitative parameters like receptor binding-potentials based on bio-kinetic modeling. Functional imaging has been frequently used in the context of auditory implantation. Before implantation it aims to assess intactness of the central auditory pathway and prognosis. After implantation it is used to improve understanding of the outcome with respect to auditory function and finally speech understanding, e.g. by measuring correlates of central auditory processing and neuroplasticity.

  8. Low Empathy in Deaf and Hard of Hearing (Pre)Adolescents Compared to Normal Hearing Controls

    Science.gov (United States)

    Netten, Anouk P.; Rieffe, Carolien; Theunissen, Stephanie C. P. M.; Soede, Wim; Dirks, Evelien; Briaire, Jeroen J.; Frijns, Johan H. M.

    2015-01-01

    Objective The purpose of this study was to examine the level of empathy in deaf and hard of hearing (pre)adolescents compared to normal hearing controls and to define the influence of language and various hearing loss characteristics on the development of empathy. Methods The study group (mean age 11.9 years) consisted of 122 deaf and hard of hearing children (52 children with cochlear implants and 70 children with conventional hearing aids) and 162 normal hearing children. The two groups were compared using self-reports, a parent-report and observation tasks to rate the children’s level of empathy, their attendance to others’ emotions, emotion recognition, and supportive behavior. Results Deaf and hard of hearing children reported lower levels of cognitive empathy and prosocial motivation than normal hearing children, regardless of their type of hearing device. The level of emotion recognition was equal in both groups. During observations, deaf and hard of hearing children showed more attention to the emotion evoking events but less supportive behavior compared to their normal hearing peers. Deaf and hard of hearing children attending mainstream education or using oral language show higher levels of cognitive empathy and prosocial motivation than deaf and hard of hearing children who use sign (supported) language or attend special education. However, they are still outperformed by normal hearing children. Conclusions Deaf and hard of hearing children, especially those in special education, show lower levels of empathy than normal hearing children, which can have consequences for initiating and maintaining relationships. PMID:25906365

  9. Applications of direct-to-consumer hearing devices for adults with hearing loss: a review

    Science.gov (United States)

    Manchaiah, Vinaya; Taylor, Brian; Dockens, Ashley L; Tran, Nicole R; Lane, Kayla; Castle, Mariana; Grover, Vibhu

    2017-01-01

    Background This systematic literature review is aimed at investigating applications of direct-to-consumer hearing devices for adults with hearing loss. This review discusses three categories of direct-to-consumer hearing devices: 1) personal sound amplification products (PSAPs), 2) direct-mail hearing aids, and 3) over-the-counter (OTC) hearing aids. Method A literature review was conducted using EBSCOhost and included the databases CINAHL, MEDLINE, and PsycINFO. After applying prior agreed inclusion and exclusion criteria, 13 reports were included in the review. Results Included studies fell into three domains: 1) electroacoustic characteristics, 2) consumer surveys, and 3) outcome evaluations. Electroacoustic characteristics of these devices vary significantly with some meeting the stringent acoustic criteria used for hearing aids, while others producing dangerous output levels (ie, over 120-dB sound pressure level). Low-end (or low-cost) devices were typically poor in acoustic quality and did not meet gain levels necessary for most adult and elderly hearing loss patterns (eg, presbycusis), especially in high frequencies. Despite direct-mail hearing aids and PSAPs being associated with lower satisfaction when compared to hearing aids purchased through hearing health care professionals, consumer surveys suggest that 5%–19% of people with hearing loss purchase hearing aids through direct-mail or online. Studies on outcome evaluation suggest positive outcomes of OTC devices in the elderly population. Of note, OTC outcomes appear better when a hearing health care professional supports these users. Conclusion While some direct-to-consumer hearing devices have the capability to produce adverse effects due to production of dangerously high sound levels and internal noise, the existing literature suggests that there are potential benefits of these devices. Research of direct-to-consumer hearing devices is limited, and current published studies are of weak quality. Much

  10. Sudden Sensorineural Hearing Loss; Prognostic Factors

    OpenAIRE

    Arjun, Dass; Neha, Goel; Surinder K, Singhal; Ravi, Kapoor

    2015-01-01

    Introduction: Sudden sensorineural hearing loss (SSNHL) is a frightening and frustrating symptom for the patient as well as the physician. Prognosis is affected by multiple factors including duration of hearing loss, presence of associated vertigo and tinnitus, and co-morbidities such as hypertension and diabetes.   Materials and Methods: Forty subjects presenting to our department with features of sudden hearing loss were included in the study. Detailed otological history and examination, se...

  11. Sensorineural Hearing Loss following Carbon Monoxide Poisoning

    Directory of Open Access Journals (Sweden)

    Joseph P. Pillion

    2012-01-01

    Full Text Available A case study is presented of a 17-year-old male who sustained an anoxic brain injury and sensorineural hearing loss secondary to carbon monoxide poisoning. Audiological data is presented showing a slightly asymmetrical hearing loss of sensorineural origin and mild-to-severe degree for both ears. Word recognition performance was fair to poor bilaterally for speech presented at normal conversational levels in quiet. Management considerations of the hearing loss are discussed.

  12. Parenting Styles of Mothers with Deaf or Hard-of-Hearing Children and Hearing Siblings

    Science.gov (United States)

    Antonopoulou, Katerina; Hadjikakou, Kika; Stampoltzis, Aglaia; Nicolaou, Nicoletta

    2012-01-01

    The present study aims to determine whether rearing a deaf or hard-of-hearing (d/hh) child would differentiate the parenting and disciplinary preference of parents between the d/hh and the hearing child. The parenting styles of 30 hearing mothers from Cyprus were assessed using the Greek version of the Parenting Styles & Dimensions…

  13. Elderly With Different Types of Hearing Loss and Comorbidities: Satisfaction With Hearing Aids

    Directory of Open Access Journals (Sweden)

    Dashti

    2015-07-01

    Full Text Available Background Hearing loss is developing when age is rising. Initiation and progression rates of hearing loss vary among different individuals and groups. Objectives The current study aimed to determine satisfaction of the elderly with their hearing aids in different types of hearing loss and comorbidities. Patients and Methods The study was conducted on 40 elderly subjects suffering from hearing loss and using hearing aids. The data collection method included assessment of hearing loss in addition to using a questionnaire to estimate respondents' satisfaction with their hearing aids in daily life. The Persian version of the Satisfaction with Amplification in Daily Life (SADL questionnaire was administered. The data were analyzed using descriptive and inferential statistics by SPSS software version19. Results The mean satisfaction scores of the elderly were 4.83 ± 0.51 and 5.36 ± 0.30 in the sensorineural loss groups. There was no significant difference between different comorbidities. There was a significant difference between satisfaction level of cost and services subscales in the symmetrical styles of hearing loss (P value = 0.04. Conclusions The findings of the study indicated a high satisfaction of the elderly with their hearing aids, considering the type of hearing loss. Despite all the efforts to improve the audiologic services during verification process, the elderly should be consulted specifically in order to fit their hearing aid as well as their expectations from aid.

  14. 45 CFR 213.11 - Notice of hearing or opportunity for hearing.

    Science.gov (United States)

    2010-10-01

    ... 45 Public Welfare 2 2010-10-01 2010-10-01 false Notice of hearing or opportunity for hearing. 213.11 Section 213.11 Public Welfare Regulations Relating to Public Welfare OFFICE OF FAMILY ASSISTANCE (ASSISTANCE PROGRAMS), ADMINISTRATION FOR CHILDREN AND FAMILIES, DEPARTMENT OF HEALTH AND HUMAN SERVICES PRACTICE AND PROCEDURE FOR HEARINGS TO STATE...

  15. 42 CFR 430.70 - Notice of hearing or opportunity for hearing.

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 4 2010-10-01 2010-10-01 false Notice of hearing or opportunity for hearing. 430.70 Section 430.70 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL ASSISTANCE PROGRAMS GRANTS TO STATES FOR MEDICAL ASSISTANCE PROGRAMS Hearings on Conformity of State Medicaid Plans...

  16. 45 CFR 99.11 - Notice of hearing or opportunity for hearing.

    Science.gov (United States)

    2010-10-01

    ... 45 Public Welfare 1 2010-10-01 2010-10-01 false Notice of hearing or opportunity for hearing. 99.11 Section 99.11 Public Welfare DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL ADMINISTRATION PROCEDURE FOR HEARINGS FOR THE CHILD CARE AND DEVELOPMENT FUND Preliminary Matters-Notice and Parties § 99...

  17. Exploring the influence of culture on hearing help-seeking and hearing-aid uptake.

    Science.gov (United States)

    Zhao, Fei; Manchaiah, Vinaya; St Claire, Lindsay; Danermark, Berth; Jones, Lesley; Brandreth, Marian; Krishna, Rajalakshmi; Goodwin, Robin

    2015-07-01

    The purpose of this paper was to highlight the importance of cultural influence in understanding hearing-help seeking and hearing-aid uptake. Information on audiological services in different countries and 'theories related to cross-culture' is presented, followed by a general discussion. Twenty-seven relevant literature reviews on hearing impairment, cross-cultural studies, and the health psychology model and others as secondary resources. Despite the adverse consequences of hearing impairment and the significant potential benefits of audiological rehabilitation, only a small number of those with hearing impairment seek professional help and take up appropriate rehabilitation. Therefore, hearing help-seeking and hearing-aid uptake has recently become the hot topic for clinicians and researchers. Previous research has identified many contributing factors for hearing help-seeking with self-reported hearing disability being one of the main factors. Although significant differences in help-seeking and hearing-aid adoption rates have been reported across countries in population studies, limited literature on the influence of cross-cultural factors in this area calls for an immediate need for research. This paper highlights the importance of psychological models and cross-cultural research in the area of hearing help-seeking and hearing-aid uptake, and consequently some directions for future research are proposed.

  18. Rurality and determinants of hearing healthcare in adult hearing aid recipients.

    Science.gov (United States)

    Chan, Stephen; Hixon, Brian; Adkins, Margaret; Shinn, Jennifer B; Bush, Matthew L

    2017-10-01

    The objective of this study was to compare the timing of hearing aid (HA) acquisition between adults in rural and urban communities. We hypothesized that time of acquisition of HA after onset of hearing loss is greater in rural adults compared with urban adults. Secondary objectives included assessment of socioeconomic/educational status and impact of hearing loss and hearing rehabilitation of urban and rural HA recipients. Cross-sectional questionnaire survey. We assessed demographics, timing of HA fitting from onset of hearing loss, and impact of hearing impairment in 336 adult HA recipients (273 urban, 63 rural) from a tertiary referral center. Amplification benefit was assessed using the International Outcome Inventory for Hearing Aids (IOI). The time to HA acquisition was greater for rural participants compared to urban participants (19.1 vs. 25.7 years, P = 0.024) for those with untreated hearing loss for at least 8 years. Age at hearing loss onset was correlated with time to HA acquisition (P = -0.54, P hearing specialists (68 vs. 32 minutes, P Hearing impairment caused job performance difficulty in 60% of all participants. Rural adults are at risk for delayed HA acquisition, which may be related to distance to hearing specialists. Further research is indicated to investigate barriers to care and expand access for vulnerable populations. 4. Laryngoscope, 127:2362-2367, 2017. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

  19. Auditory Outcomes with Hearing Rehabilitation in Children with Unilateral Hearing Loss: A Systematic Review.

    Science.gov (United States)

    Appachi, Swathi; Specht, Jessica L; Raol, Nikhila; Lieu, Judith E C; Cohen, Michael S; Dedhia, Kavita; Anne, Samantha

    2017-10-01

    Objective Options for management of unilateral hearing loss (UHL) in children include conventional hearing aids, bone-conduction hearing devices, contralateral routing of signal (CROS) aids, and frequency-modulating (FM) systems. The objective of this study was to systematically review the current literature to characterize auditory outcomes of hearing rehabilitation options in UHL. Data Sources PubMed, EMBASE, Medline, CINAHL, and Cochrane Library were searched from inception to January 2016. Manual searches of bibliographies were also performed. Review Methods Studies analyzing auditory outcomes of hearing amplification in children with UHL were included. Outcome measures included functional and objective auditory results. Two independent reviewers evaluated each abstract and article. Results Of the 249 articles identified, 12 met inclusion criteria. Seven articles solely focused on outcomes with bone-conduction hearing devices. Outcomes favored improved pure-tone averages, speech recognition thresholds, and sound localization in implanted patients. Five studies focused on FM systems, conventional hearing aids, or CROS hearing aids. Limited data are available but suggest a trend toward improvement in speech perception with hearing aids. FM systems were shown to have the most benefit for speech recognition in noise. Studies evaluating CROS hearing aids demonstrated variable outcomes. Conclusions Data evaluating functional and objective auditory measures following hearing amplification in children with UHL are limited. Most studies do suggest improvement in speech perception, speech recognition in noise, and sound localization with a hearing rehabilitation device.

  20. Hearing Screening Follow-Up: Completing the Process to Identify Hearing Health Needs

    Science.gov (United States)

    Eiserman, William; Shisler, Lenore; Hoffman, Jeff

    2015-01-01

    Hearing is at the heart of language development and school readiness; increasing numbers of Early Head Start programs have come to rely on otoacoustic emissions (OAE) technology to screen all infants and toddlers for hearing loss. Successful identification of hearing health needs is dependent not only on an appropriate screening method, but also…