Visual form of ASL verb signs predicts non-signer judgment of transitivity.

Longstanding cross-linguistic work on event representations in spoken languages have argued for a robust mapping between an event's underlying representation and its syntactic encoding, such that-for example-the agent of an event is most frequently mapped to subject position. In the same vein, sign languages have long been claimed to construct signs that visually represent their meaning, i.e., signs that are iconic. Experimental research on linguistic parameters such as plurality and aspect has recently shown some of them to be visually universal in sign, i.e. recognized by non-signers as well as signers, and have identified specific visual cues that achieve this mapping. However, little is known about what makes action representations in sign language iconic, or whether and how the mapping of underlying event representations to syntactic encoding is visually apparent in the form of a verb sign. To this end, we asked what visual cues non-signers may use in evaluating transitivity (i.e., the number of entities involved in an action). To do this, we correlated non-signer judgments about transitivity of verb signs from American Sign Language (ASL) with phonological characteristics of these signs. We found that non-signers did not accurately guess the transitivity of the signs, but that non-signer transitivity judgments can nevertheless be predicted from the signs' visual characteristics. Further, non-signers cue in on just those features that code event representations across sign languages, despite interpreting them differently. This suggests the existence of visual biases that underlie detection of linguistic categories, such as transitivity, which may uncouple from underlying conceptual representations over time in mature sign languages due to lexicalization processes.

Determination risk factors for severe and profound hearing loss in child candidates for cochlear implantation in southeast of Iran during 2014-2020.

BACKGROUND: Hearing loss can have a major impact on children's language development, academic success and hearing comprehension. The aim of the present study was to determinate risk factors for severe and profound hearing loss in child candidates for cochlear implantation in southeast of Iran during 2014-2020. MATERIALS AND METHODS: This case-control study consisted of 400 children referring to a cochlear implant center (in southeastern Iran) from Bandar Abbas, Zahedan and Kerman during the years 2014-2020 as cases. The subjects were selected using the random sampling method; 200 children hospitalized in Shafa and Afzalipour hospitals were selected as controls. RESULTS: Based on the results of the multivariate logistic regression, weight less than 1500 g (OR = 4.40: p < 0.05), hospitalization in NICU (OR = 7.21: p < 0.05), family history of hearing loss (OR = 11.47: p < 0.05), Gestational age over 35 (OR = 9.63: p < 0.05), intracranial hemorrhage (OR = 5.18: p < 0.05), consanguineous marriage (OR = 12.48: p < 0.05) and high fever and seizures (OR = 3.02: p < 0.05) were recognized as risk factors for sensorineural deafness in children. CONCLUSION: Most of the risk factors for deafness are preventable, and hereditary factors play an important role in congenital deafness in children. Therefore, genetic counseling before consanguineous marriage, early diagnosis, timely intervention can prevent many cases of hearing loss in children.

A Prospective Study of the Effect of Tinnitus Sound Matching Degree on the Efficacy of Customized Sound Therapy in Patients with Chronic Tinnitus.

OBJECTIVES: The aim of this study was to explore and compare the customized sound therapy effect between tinnitus sound matching and nonmatching patients in tinnitus customized sound therapy and therapy-related influencing factors. METHODS: This prospective study investigated a total of 100 patients with unilateral chronic tinnitus who received customized sound therapy. The participants were dichotomously divided into matching (group A) and nonmatching (group B) groups after 4 stages of tinnitus matching via the tinnitus assistant app (provided by Sound Ocean Company, SuZhou, China). Each group consists of 50 participants. Before and 6 months after the treatment, Hospital Anxiety and Depression Scale (HADS), tinnitus handicap inventory (THI), and tinnitus loudness Visual Analog Scale (VAS) were used to evaluate the customized sound therapy effect and explore other related influencing factors. RESULTS: (1) The HADS-A, HADS-D, THI, and VAS scores of 2 groups were both significantly decreased after treatment. (2) The HADS-A and THI scores improved markedly in group A than that in group B, which could be related to the hearing loss of the tinnitus side ear before treatment; the lighter the degree of hearing loss, the better the improvement. No statistically significant differences were detected in HADS-D and VAS scores between the 2 groups, and also, these were not related to the degree of hearing loss. The differences in age, gender, and tinnitus duration did not show any statistically significant effect on the improvement of the 2 groups. CONCLUSIONS: Both tinnitus sound matching and nonmatching of the customized sound therapy brought a significant effect to tinnitus participants. Our study also suggests that THI and HADS-A scores of those with tinnitus matching participants improved markedly as compared to those of nonmatching participants, and the customized sound therapy effect is negatively correlated with the severity of hearing loss.

The effect of increased channel interaction on speech perception with cochlear implants.

Cochlear implants (CIs) are neuroprostheses that partially restore hearing for people with severe-to-profound hearing loss. While CIs can provide good speech perception in quiet listening situations for many, they fail to do so in environments with interfering sounds for most listeners. Previous research suggests that this is due to detrimental interaction effects between CI electrode channels, limiting their function to convey frequency-specific information, but evidence is still scarce. In this study, an experimental manipulation called spectral blurring was used to increase channel interaction in CI listeners using Advanced Bionics devices with HiFocus 1J and MS electrode arrays to directly investigate its causal effect on speech perception. Instead of using a single electrode per channel as in standard CI processing, spectral blurring used up to 6 electrodes per channel simultaneously to increase the overlap between adjacent frequency channels as would occur in cases with severe channel interaction. Results demonstrated that this manipulation significantly degraded CI speech perception in quiet by 15% and speech reception thresholds in babble noise by 5 dB when all channels were blurred by a factor of 6. Importantly, when channel interaction was increased just on a subset of electrodes, speech scores were mostly unaffected and were only significantly degraded when the 5 most apical channels were blurred. These apical channels convey information up to 1 kHz at the apical end of the electrode array and are typically located at angular insertion depths of about 250 up to 500°. These results confirm and extend earlier findings indicating that CI speech perception may not benefit from deactivating individual channels along the array and that efforts should instead be directed towards reducing channel interaction per se and in particular for the most-apical electrodes. Hereby, causal methods such as spectral blurring could be used in future research to control channel interaction effects within listeners for evaluating compensation strategies.

Reading without phonology: ERP evidence from skilled deaf readers of Spanish.

Reading typically involves phonological mediation, especially for transparent orthographies with a regular letter to sound correspondence. In this study we ask whether phonological coding is a necessary part of the reading process by examining prelingually deaf individuals who are skilled readers of Spanish. We conducted two EEG experiments exploiting the pseudohomophone effect, in which nonwords that sound like words elicit phonological encoding during reading. The first, a semantic categorization task with masked priming, resulted in modulation of the N250 by pseudohomophone primes in hearing but not in deaf readers. The second, a lexical decision task, confirmed the pattern: hearing readers had increased errors and an attenuated N400 response for pseudohomophones compared to control pseudowords, whereas deaf readers did not treat pseudohomophones any differently from pseudowords, either behaviourally or in the ERP response. These results offer converging evidence that skilled deaf readers do not rely on phonological coding during visual word recognition. Furthermore, the finding demonstrates that reading can take place in the absence of phonological activation, and we speculate about the alternative mechanisms that allow these deaf individuals to read competently.

Microsecond interaural time difference discrimination restored by cochlear implants after neonatal deafness.

Spatial hearing in cochlear implant (CI) patients remains a major challenge, with many early deaf users reported to have no measurable sensitivity to interaural time differences (ITDs). Deprivation of binaural experience during an early critical period is often hypothesized to be the cause of this shortcoming. However, we show that neonatally deafened (ND) rats provided with precisely synchronized CI stimulation in adulthood can be trained to lateralize ITDs with essentially normal behavioral thresholds near 50 µs. Furthermore, comparable ND rats show high physiological sensitivity to ITDs immediately after binaural implantation in adulthood. Our result that ND-CI rats achieved very good behavioral ITD thresholds, while prelingually deaf human CI patients often fail to develop a useful sensitivity to ITD raises urgent questions concerning the possibility that shortcomings in technology or treatment, rather than missing input during early development, may be behind the usually poor binaural outcomes for current CI patients.

Investigational Medicinal Products for the Inner Ear: Review of Clinical Trial Characteristics in ClinicalTrials.gov.

BACKGROUND: The previous 30 years have provided information on the mechanisms of cell death in the inner ear after noise exposure, ototoxic drug injury, and during aging, and clinical trials have emerged for all of these acquired forms of hearing loss. Sudden hearing loss is less well understood, but restoration of hearing after sudden hearing loss is also a long-standing drug target, typically using steroids as an intervention but with other agents of interest as well. PURPOSE: The purpose of this review was to describe the state of the science regarding clinical testing of investigational medicinal products for the inner ear with respect to treatment or prevention of acquired hearing loss. DATA COLLECTION AND ANALYSIS: Comprehensive search and summary of clinical trials listed in the National Library of Medicine (www. CLINICALTRIALS: gov) database identified 61 clinical trials. RESULTS: Study phase, status, intervention, and primary, secondary, and other outcomes are summarized for studies assessing prevention of noise-induced hearing loss, prevention of drug-induced hearing loss, treatment of stable sensorineural hearing loss, and treatment of sudden sensorineural hearing loss. CONCLUSION: This review provides a comprehensive summary of the state of the science with respect to investigational medicinal products for the inner ear evaluated in human clinical trials, and the current challenges for the field.

miR-182 prevented ototoxic deafness induced by co-administration of kanamycin and furosemide in rats.

Ototoxic drugs may induce auditory sensory hair cell loss and permanent deafness; however, there is still no effective treatments or prevention strategies for this side effect. A recent study found that microRNA182 (miR-182) protected cochlear hair cells from ototoxic drug-induced apoptosis in vitro. However, it remains unclear whether miR-182 can protect drug-induced deafness in vivo. In this study, we overexpressed cochlear miR-182 in Sprague-Dawley rats by trans-round window niche delivery of miR-182 mimics. The rats subsequently received intraperitoneal injections of kanamycin and furosemide to induce acute cochlear outer hair cell death and permanent deafness. Auditory brainstem response tests showed that miR-182 attenuated permanent threshold shifts. Consistent with this result, miR-182 reduced the loss of outer hair cells and missing stereocilia. miR-182 treatment also increased the level of phosphoinositide-3 kinase regulatory subunit p85α in the outer hair cells after co-administration of kanamycin and furosemide. Our findings suggest that miR-182 has powerful protective potential against ototoxic drug-induced acute auditory sensory hair cell loss and permanent deafness.

Risk indicators for hearing loss and language acquisition and their relationship with socioeconomic, demographic and obstetric variables in preterm and term babies. / Indicadores de risco para a deficiência auditiva e aquisição da linguagem e sua relação com variáveis socioeconômicas, demográficas e obstétricas em bebês pré-termo e a termo.

PURPOSE: To compare the frequency of risk indicators in preterm and full-term babies; to analyze the possible relationships among the presence of risk for hearing loss with language acquisition and socioeconomic, demographic and obstetric variables. METHODS: This is a longitudinal cohort study, with a sample of 87 babies. Gestational, obstetric and sociodemographic data were collected from mothers and babies. The socioeconomic classification status of the families were classified using the Brazilian Criteria for Economic Classification. The risk for language was assessed using the Language Acquisition Enunciation Signs and the Denver II test. The data were analyzed using the STATISTICA 9.1 software, using the chi-square and the Mann-Whitney U tests and simple and multiple linear regression models. RESULTS: Permanence in a neonatal intensive care (65.52%), ototoxic (48.28%), mechanical ventilation (39.66%) and hyperbilirubinemia (46.55%) were the more frequent risk indicators in the sample. Regarding socioeconomic, demographic and obstetric factors, there was a correlation among prenatal care, gestational age, birth weight, feeding with hearing risk. Acquisition and development of language showed statistical significance with varicella, HIV, Apgar score and birth weight >1500 grams. CONCLUSION: Preterm babies showed higher frequency of risk indicators compared to full-term babies. Among environmental factors, prenatal care, which interferes in the outcome of gestational age, birth weight, Apgar score and presence of infectious diseases, as well as feeding, emerged as significant factors related to hearing and language acquisition. Prematurity was the relevant biological factor related to hearing and language risk.

OBJETIVO: Comparar a frequência de indicadores de risco em bebês nascidos pré-termo e a termo; analisar as possíveis relações entre a presença de risco para perda auditiva com variáveis socioeconômicas, demográficas, obstétricas e risco à linguagem. MÉTODO: Trata-se de um estudo de coorte longitudinal com amostra de 87 bebês. Foram coletados dados gestacionais, obstétricos e sociodemográficos das mães e dos bebês. A classificação socioeconômica das famílias foi analisada por meio do Critério de Classificação Econômica Brasil. O risco à linguagem foi avaliado por meio dos Sinais Enunciativos de Aquisição da Linguagem e Teste Denver II. Os dados foram analisados utilizando o programa STATISTICA 9.1, por meio dos Testes Quiquadrado e U de Mann-Whitney, Modelo de regressão linear simples e múltiplo. RESULTADOS: A permanência em UTI neonatal (65,52%), ototóxico (48,28%), ventilação mecânica (39,66%) e hiperbilirrubinemia (46,55%) foram os indicadores de risco mais frequentes na amostra. Considerando fatores socioeconômicos, demográficos e obstétricos, houve correlação entre pré-natal, idade gestacional, peso ao nascer e alimentação com o risco auditivo. A aquisição e desenvolvimento de linguagem mostrou significância estatística com a varicela, HIV, Apgar e peso >1500 gramas. CONCLUSÃO: Os prematuros apresentaram maior frequência de indicadores de risco, comparados aos bebês a termo. Dos fatores ambientais, o pré-natal que interfere no desfecho da idade gestacional, peso ao nascer, apgar e presença de doenças infecciosas, além da alimentação, despontaram como significativos relacionados com o desenvolvimento da audição e a aquisição da linguagem. A prematuridade foi o fator biológico relevante relacionado ao risco auditivo e linguístico.

Consensus outcome rating for international neonatal resuscitation guidelines.

The International Liaison Committee on Resuscitation uses the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) working group method to evaluate the quality of evidence and the strength of treatment recommendations. This method requires guideline developers to use a numerical rating of the importance of each specified outcome. There are currently no uniform reporting guidelines or outcome measures for neonatal resuscitation science. We describe consensus outcome ratings from a survey of 64 neonatal resuscitation guideline developers representing seven international resuscitation councils. Among 25 specified outcomes, 10 were considered critical for decision-making. The five most critically rated outcomes were death, moderate-severe neurodevelopmental impairment, blindness, cerebral palsy and deafness. These data inform outcome rankings for systematic reviews of neonatal resuscitation science and international guideline development using the GRADE methodology.

Indicadores de risco para a deficiência auditiva e aquisição da linguagem e sua relação com variáveis socioeconômicas, demográficas e obstétricas em bebês pré-termo e a termo / Risk indicators for hearing loss and language acquisition and their relationship with socioeconomic, demographic and obstetric variables in preterm and term babies

RESUMO Objetivo Comparar a frequência de indicadores de risco em bebês nascidos pré-termo e a termo; analisar as possíveis relações entre a presença de risco para perda auditiva com variáveis socioeconômicas, demográficas, obstétricas e risco à linguagem. Método Trata-se de um estudo de coorte longitudinal com amostra de 87 bebês. Foram coletados dados gestacionais, obstétricos e sociodemográficos das mães e dos bebês. A classificação socioeconômica das famílias foi analisada por meio do Critério de Classificação Econômica Brasil. O risco à linguagem foi avaliado por meio dos Sinais Enunciativos de Aquisição da Linguagem e Teste Denver II. Os dados foram analisados utilizando o programa STATISTICA 9.1, por meio dos Testes Quiquadrado e U de Mann-Whitney, Modelo de regressão linear simples e múltiplo. Resultados A permanência em UTI neonatal (65,52%), ototóxico (48,28%), ventilação mecânica (39,66%) e hiperbilirrubinemia (46,55%) foram os indicadores de risco mais frequentes na amostra. Considerando fatores socioeconômicos, demográficos e obstétricos, houve correlação entre pré-natal, idade gestacional, peso ao nascer e alimentação com o risco auditivo. A aquisição e desenvolvimento de linguagem mostrou significância estatística com a varicela, HIV, Apgar e peso >1500 gramas. Conclusão Os prematuros apresentaram maior frequência de indicadores de risco, comparados aos bebês a termo. Dos fatores ambientais, o pré-natal que interfere no desfecho da idade gestacional, peso ao nascer, apgar e presença de doenças infecciosas, além da alimentação, despontaram como significativos relacionados com o desenvolvimento da audição e a aquisição da linguagem. A prematuridade foi o fator biológico relevante relacionado ao risco auditivo e linguístico.

ABSTRACT Purpose To compare the frequency of risk indicators in preterm and full-term babies; to analyze the possible relationships among the presence of risk for hearing loss with language acquisition and socioeconomic, demographic and obstetric variables. Methods This is a longitudinal cohort study, with a sample of 87 babies. Gestational, obstetric and sociodemographic data were collected from mothers and babies. The socioeconomic classification status of the families were classified using the Brazilian Criteria for Economic Classification. The risk for language was assessed using the Language Acquisition Enunciation Signs and the Denver II test. The data were analyzed using the STATISTICA 9.1 software, using the chi-square and the Mann-Whitney U tests and simple and multiple linear regression models. Results Permanence in a neonatal intensive care (65.52%), ototoxic (48.28%), mechanical ventilation (39.66%) and hyperbilirubinemia (46.55%) were the more frequent risk indicators in the sample. Regarding socioeconomic, demographic and obstetric factors, there was a correlation among prenatal care, gestational age, birth weight, feeding with hearing risk. Acquisition and development of language showed statistical significance with varicella, HIV, Apgar score and birth weight >1500 grams. Conclusion Preterm babies showed higher frequency of risk indicators compared to full-term babies. Among environmental factors, prenatal care, which interferes in the outcome of gestational age, birth weight, Apgar score and presence of infectious diseases, as well as feeding, emerged as significant factors related to hearing and language acquisition. Prematurity was the relevant biological factor related to hearing and language risk.

Diagnosis, Intervention, and Prevention of Genetic Hearing Loss.

It is estimated that at least 50% of congenital or childhood hearing loss is attributable to genetic causes. In non-syndromic hearing loss, which accounts for 70% of genetic hearing loss, approximately 80% of cases are autosomal recessive, 15% autosomal dominant, and 1-2% mitochondrial or X-linked. In addition, 30% of genetic hearing loss is syndromic. The genetic causes of hearing loss are highly heterogeneous. So far, more than 140 deafness-related genes have been discovered. Studies on those genes tremendously increased our understanding of the inner ear functions at the molecular level. It also offers important information for the patients and allows personalized and accurate genetic counseling. In many cases, genetic diagnosis of hearing loss can help to avoid unnecessary and costly clinical testing, offer prognostic information, and guide future medical management. On the other hand, a variety of gene therapeutic approaches have been developed aiming to relieve or converse the hearing loss due to genetic causes. Prevention of genetic hearing loss is feasible through prepregnancy and prenatal genetic diagnosis and counseling.

World Health Organization and Its Initiative for Ear and Hearing Care.

The World Health Organization (WHO) addresses ear diseases and hearing loss through its program on prevention of deafness and hearing loss. Recently, the World Health Assembly called for action at global and national levels to tackle the rising prevalence and adverse impact of unaddressed hearing loss. Following a public health approach toward this issue, WHO is focusing on i) raising awareness among policymakers and civil society; and ii) providing technical support to countries for promoting hearing care. Meeting this challenge requires a coordinated global effort with all stakeholders working together to make ear and hearing care accessible to all.

Osmotic therapies added to antibiotics for acute bacterial meningitis.

BACKGROUND: Every day children and adults die from acute community-acquired bacterial meningitis, particularly in low-income countries, and survivors risk deafness, epilepsy and neurological disabilities. Osmotic therapies may attract extra-vascular fluid and reduce cerebral oedema, and thus reduce death and improve neurological outcomes.This is an update of a Cochrane Review first published in 2013. OBJECTIVES: To evaluate the effects of osmotic therapies added to antibiotics for acute bacterial meningitis in children and adults on mortality, deafness and neurological disability. SEARCH METHODS: We searched CENTRAL (2017, Issue 1), MEDLINE (1950 to 17 February 2017), Embase (1974 to 17 February 2017), CINAHL (1981 to 17 February 2017), LILACS (1982 to 17 February 2017) and registers of ongoing clinical trials (ClinicalTrials.com, WHO ICTRP) (21 February 2017). We also searched conference abstracts and contacted researchers in the field (up to 12 December 2015). SELECTION CRITERIA: Randomised controlled trials testing any osmotic therapy in adults or children with acute bacterial meningitis. DATA COLLECTION AND ANALYSIS: Two review authors independently screened the search results and selected trials for inclusion. Results are presented using risk ratios (RR) and 95% confidence intervals (CI) and grouped according to whether the participants received steroids or not. We used the GRADE approach to assess the certainty of the evidence. MAIN RESULTS: We included five trials with 1451 participants. Four trials evaluated glycerol against placebo, and one evaluated glycerol against 50% dextrose; in addition three trials evaluated dexamethasone and one trial evaluated acetaminophen (paracetamol) in a factorial design. Stratified analysis shows no effect modification with steroids; we present aggregate effect estimates.Compared to placebo, glycerol probably has little or no effect on death in people with bacterial meningitis (RR 1.08, 95% CI 0.90 to 1.30; 5 studies, 1272 participants; moderate-certainty evidence), but may reduce neurological disability (RR 0.73, 95% CI 0.53 to 1.00; 5 studies, 1270 participants; low-certainty evidence).Glycerol may have little or no effect on seizures during treatment for meningitis (RR 1.08, 95% CI 0.90 to 1.30; 4 studies, 1090 participants; low-certainty evidence).Glycerol may reduce the risk of subsequent deafness (RR 0.64, 95% CI 0.44 to 0.93; 5 studies, 922 participants; low to moderate-certainty evidence).Glycerol probably has little or no effect on gastrointestinal bleeding (RR 0.93, 95% CI 0.39 to 2.19; 3 studies, 607 participants; moderate-certainty evidence). The evidence on nausea, vomiting and diarrhoea is uncertain (RR 1.09, 95% CI 0.81 to 1.47; 2 studies, 851 participants; very low-certainty evidence). AUTHORS' CONCLUSIONS: Glycerol was the only osmotic therapy evaluated, and data from trials to date have not demonstrated an effect on death. Glycerol may reduce neurological deficiency and deafness.

Prevention of ischemia-induced hearing loss by intravenous administration of hydrogen-rich saline in gerbil.

OBJECTIVE: Hydrogen-rich water, which is a potent antioxidant agent, was investigated for its protective effects against ischemic damage of the cochlea in gerbils. METHODS: The animals were subjected to transient cochlear ischemia by occluding the bilateral vertebral arteries for l5min. Five milliliters of hydrogen-rich saline was then intravenously administered immediately after the insult. Saline without hydrogen was used as a control. Effects of hydrogen were evaluated using the auditory brainstem response (ABR) and histological studies of the inner ear. RESULTS: In non-ischemia animals, ABR thresholds and histological findings of the cochlea did not change by administration of saline or hydrogen-rich saline. In contrast, transient cochlear ischemia caused a 24.2±3.8dB increase in the ABR threshold at 8kHz, and a decrease of 14.1%±1.8% in the number of inner hair cells (IHCs) at the basal turn on day 7. Ischemic damage was more severe at 16 and 32kHz. When the animals were treated with hydrogen-rich saline, cochlear damage was significantly reduced: the increase in ABR threshold was 11.7±2.6dB at 8kHz and the IHC loss was 7.5%±2.1% at the basal turn on day 7. The effects of hydrogen-rich saline were more prominent at higher frequencies. CONCLUSIONS: Intravenous administration of hydrogen-rich saline was effective in preventing acute hearing loss due to transient cochlear ischemia.

[Value of pre-gestational deafness-related mutation screening for the prevention and intervention of congenital deafness].

OBJECTIVE: To assess the value of pre-gestational deafness-related mutation screening for the prevention and intervention of congenital deafness. METHODS: In this study, 2168 couples with normal hearing were screened for common mutations associated with congenital deafness using real-time fluorescence quantitative PCR. The mutations have included GJB2 c.235delC and c.299_300delAT, SLC26A4 c.2168A>G and c.IVS7-2A>G, and mtDNA 12SrRNA c.1494C>T and c.1555A>G. For couples who have both carried heterozygous mutations of the same gene, genetic counseling and prenatal diagnosis were provided. RESULTS: Among of the 4 336 individuals, 178 (4.06%) were found to carry a mutation. Mutation rate for c.235delC and c.299_300delAT of GJB2 gene, c.IVS7-2 A>G and c.2168 A>G of SLC26A4 gene, c.1555 A>G and c.1494 C>T of DNA 12S rRNA gene were 0.91%, 0.20%, 0.68%, 0.11%, 0.1% and 0.01%, respectively. For six couples who have both carried mutations of the same gene, all fetuses showed a normal karyotype, while DNA sequencing indicated that two fetuses have carried homozygous c.235delC mutation of the GJB2 gene, one carried a heterozygous c.235delC mutation of the GJB2 gene, one carried heterozygous mutation of GJB2 gene (c.299_300delAT), and two have carried a heterozygous mutation of c.IVS7-2A>G of the SLC26A4 gene. CONCLUSION: Pre-gestational screening for deafness gene mutation can facilitate avoidance the birth of affected children and has a great clinical value for the prevention and intervention of birth defect.

Dicas em Saúde: Surdez

Informações de utilidade pública sobre doenças, prevenção de acidentes, cuidados com a higiene, entre outros.

Risk Factors in Children Older Than 5 Years With Pneumococcal Meningitis: Data From a National Network.

BACKGROUND: The occurrence of meningitis in children >5 years old may be associated with specific predisposing factors that can be anatomic, such as cerebrospinal fluid fistula or breach, or related to genetic susceptibility or N inborn or acquired immunologic defect. This study aimed to assess the anatomical and immunologic risk factors in children >5 years old with pneumococcal meningitis and prospectively enrolled in the French national meningitis network. METHODS: We analyzed all data for children who were 5-15 years old with a diagnosis of pneumococcal meningitis between 2001 and 2013. We describe the frequency and typology of the anatomic or immunologic risk factors, the clinical features and the pneumococcal serotypes. RESULTS: Among the 316 patients with pneumococcal meningitis, the mortality rate was 9.5% and 23.1% of cases presented complications (abscess, coma, hemodynamic failure, thrombophlebitis cerebral or deafness). In total, 108 children (34%) showed risk factors, the most frequent being anatomic: 70 cases (22.8%) were related to a cerebrospinal fluid breach or fistula and 55 (17.9%) to immunodeficiency, primary or acquired. Serotype data were available for 207 pneumococcal isolates (65.5%). The most frequent serotypes were as follows: 3, 18C, 19A and 19F between 2001 and 2009 and 19F, 3, 19A, 12F, 22F, 17F and 24F after 2009. CONCLUSIONS: We describe the largest cohort of children >5 years old with pneumococcal meningitis. One third of the children had risk factors justifying a complete immunologic and radiologic work-up.