Consensus statement: Long-term results of ABI in children with complex inner ear malformations and decision making between CI and ABI

7th IEEE Asia-Pacific Conference on Applied Electromagnetics, APACE 2016 -- 11 December 2016 through 13 December 2016 -- 127632‘Second Consensus Meeting on Management of Complex Inner Ear Malformations: Long Term Results of ABI in Children and Decision Making Between CI and ABI’ took place on 5–6 April 2013 in Kyrenia, Northern Cyprus with the participation of 20 centers from 11 countries. These centers presented their auditory brainstem implantation (ABI) experience in children and infants and also provided the selection criteria and cochlear implant (CI) results in patients with an abnormal cochlea and nerve. In addition, Cochlear and Med El companies provided presentations regarding solutions to problems during revision surgery and future projections of device technology. According to the results from different centers, it was evident that an ABI is capable of providing hearing sensation in prelingually deafened children with complex inner ear malformations and diseases. It is possible to obtain a pure tone average with an ABI between 30 and 60 dB HL in most of these patients. It has been observed that the majority of children obtain Categories of Auditory Performance (CAP) scores around 5, but occasionally certain ABI users obtained scores of up to CAP 8-II, NEAP-Nottingham Early Assessment Package. The Ear Foundation 2009). CAP scores tend to increase with earlier implantation, i.e. under 2 years of age. However, after 3 years of use, it usually reaches a plateau. Children with additional disorders cannot reach CAP scores of children without disorders. However, they obtain an improvement of cognitive functions but duration of ABI use and increasing chronological age also play a role in this improvement

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease