Results the content provides explanations for the calculation of impact dimensions, heterogeneity statistic, along with other meta-analysis data and their particular explanation for assessing RCTs and tips for choosing a model with regards to the on the basic study concept. Conclusion The described technique allows meta-analysis and provides a sense of the axioms for preparing the outcome of clinical tests because of the hope of the subsequent use within neuro genetics organized reviews and meta-analysis.Otoferlin (OTOF) gene mutations would be the common cause of hereditary ANSD according to investigations in a number of countries. The goal of this research would be to approximate the prevalence of OTOF mutations in Russian kids with ANSD and assess audiological and clinical popular features of OTOF-related ANSD. Patients and methods 28 kiddies with bilateral ANSDwere enrolled in the examination. Two action genetic evaluation was done initial step – GJB2 gene screening to exclude GJB2-related hearing reduction; second step – NGS-based sequencing to explore another 35 hearing loss genes (including OTOF). Results OTOF mutations, including 6 brand new alternatives, were present in 5 kids with ANSD (18%). All 5 kids had no risk factors for hearing reduction and passed hearing testing. OAE and cochlear microphonics had been current till the last evaluation in the age 4-5 many years. ABR weren’t noticeable. The ASSR were measurable bilaterally after all frequencies in all cases, nonetheless they did not correlate with behavioral thresholds that revealed severe hearing loss. Reading thresholds had been stable during follow up period. 3 children underwent cochlear implantation. After cochlear implantation auditory nerve activity potentials to electric stimulation were recognized within regular range. Conclusion Genetic testing of kids with ANSD and first OTOF examination makes it possible for to reveal reading reduction etiology and supply the optimal rehabilitation approach, including cochlear implantation, as soon as possible.Objective The description of a clinical image and audiological functions during the hearing reduction caused by changes of a STRC gene, coding protein stereocillin (MIM 606440). Mutations in the many genes in charge of the internal ear proteins will be the reason for congenital sensorineural hearing loss. The root cause of congenital bilateral sensorineural hearing loss into the Russian Federation are mutations in GJB2 gene it reaches up 68% of situations identified in infancy. GJB2 gene tests already became routine around the globe. Probabilities of new techniques considering sequencing of new generation (NGS, next generation sequencing) enable to conduct a research of more rare genetics associated with a hearing impairment. The essential usually among GJB2 negative customers reveal mutations and removal of a gene of STRC. Patients and practices Full audiological study of 5 kids plus one adult with a hearing loss from 2 unrelated people is offered. Mutations in STRC gene were identified. All kiddies are analyzed elderly before 8 many years, and 3 children were unsuccessful universal audiological assessment in maternity medical center, to two kiddies testing had not been completed while they were born till 2009. Results the kids using the sensorineural hearing reduction linked to mutations and removal of STRC gene failed hearing screening in pregnancy hospital because of the OAE is not subscribed, just what shows the congenital nature of a hearing reduction. Recently it could never be noticed earlier in the day because of slight increase of hearing thresholds and had been regarded only as the very early beginning. Our data emphasize that the of thresholds from 35 to 60 dB in frequencies 0,5-4 kHz is common for mutations/deletions of STRC gene. Conclusion The improvement molecular genetics techniques confirms the hereditary factors behind GJB2-negative patients and expands indications for household counseling. Unique strategy for child with hearing reduction so early revealed is essential therefore the assessment of moms and dads frightened of assessment outcomes is vital.Spontaneous otoliquorrhea (SOL) often mimics the image of exudative otitis media (EOM), that leads to delayed diagnosis for the fundamental condition. Function of research Is to evaluate reasons, medical features and diagnostic algorithm for customers with SOL. Customers and analysis practices From 2007 to 2018, 33 customers with SOL underwent assessment and therapy into the division of Ear Microsurgery associated with the Institute. In the preoperative stage, all clients underwent a complete examination, including assessment of ENT body organs, anthropometric, biochemical, audiological, ultrasound and radiological tests, which managed to get possible to make the correct diagnosis. Outcomes SOL had been prone to take place in women over 50 who will be overweight (69.7%, stage II-III). The disease onset in 51.6per cent of customers was preceded by circumstances followed closely by a short-term or extended boost in intracranial force. SOL ended up being manifested by the clinical image of EOM in 72.7per cent of situations, just in 45.5per cent of cases was accompanied by launch from the ear and nose, had been often intermittent and complicated by meningitis in 12.1% of patients.
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