Agnieszka Pollak, Urszula Lechowicz, H. Skarżyńśki, R. Płoski, Monika Ołdak
{"title":"Identyfikacja molekularnej przyczyny epizodycznie postępującego niedosłuchu u pacjentki z poszerzonym wodociągiem przedsionka i dysplazją środkowo-szczytowych odcinków ślimaka","authors":"Agnieszka Pollak, Urszula Lechowicz, H. Skarżyńśki, R. Płoski, Monika Ołdak","doi":"10.17431/1003138","DOIUrl":"https://doi.org/10.17431/1003138","url":null,"abstract":"It is believed that several hundred products of different genes are involved in the process of sound perception, and pathogenic variants in every one of them can be responsible for hearing loss. Thus, hearing loss presents itself as a genetically highly differentiated disorder, and in many cases it is a challenge to establish its cause. Introduction of next generation sequencing made it possible to perform multigene analyzes to detect the genetic background of hearing loss. The aim of the study was to identify the molecular basis of episodic progressive hearing loss in a patient with an enlarged vestibular aqueduct and dysplasia of the central-peak sections of the cochlea. The patient underwent whole exome sequencing and two causative variants were identified in the SLC26A4 gene, thereby identifying the molecular cause of the described symptoms and signs.","PeriodicalId":214555,"journal":{"name":"Nowa Audiofonologia","volume":"25 2 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134544628","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Ocena funkcji słuchowych u wokalistów","authors":"Agata Szkiełkowska, H. Skarżyńśki","doi":"10.17431/1003132","DOIUrl":"https://doi.org/10.17431/1003132","url":null,"abstract":"","PeriodicalId":214555,"journal":{"name":"Nowa Audiofonologia","volume":"118 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116352975","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Lingwistyczne aspekty zaburzeń przetwarzania słuchowego u dzieci i ich rehabilitacja z perspektywy logopedy","authors":"A. Skoczylas","doi":"10.17431/1003242","DOIUrl":"https://doi.org/10.17431/1003242","url":null,"abstract":"Auditory processing strongly influences speech perception and production. Rehabilitation of people struggling with disorders should take into account not only purely auditory aspects, but also those related to sentence structures, relations between words and meanings carried by words and prosody. This paper contains suggestions for exercises shaping these skills, used with good effect in clinical practice.","PeriodicalId":214555,"journal":{"name":"Nowa Audiofonologia","volume":"22 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122058432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Leczenie niedosłuchu za pomocą implantu ślimakowego u pacjenta z zespołem MELAS","authors":"H. Skarżyńśki, K. Osińska, Piotr Skarżyński","doi":"10.17431/1002764","DOIUrl":"https://doi.org/10.17431/1002764","url":null,"abstract":"","PeriodicalId":214555,"journal":{"name":"Nowa Audiofonologia","volume":"22 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122343638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Danuta Raj-Koziak, K. Bieńkowska, H. Skarżyńśki, Piotr Skarżyński
{"title":"Szumy uszne u dzieci","authors":"Danuta Raj-Koziak, K. Bieńkowska, H. Skarżyńśki, Piotr Skarżyński","doi":"10.17431/1002710","DOIUrl":"https://doi.org/10.17431/1002710","url":null,"abstract":"","PeriodicalId":214555,"journal":{"name":"Nowa Audiofonologia","volume":"54 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116189577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Karolina Samsonowicz, Justyna Piniaha, Anna Geremek-Samsonowicz
{"title":"Rozwój mowy dziecka z zespołem wrodzonej centralnej hipowentylacji (CCHS): diagnoza, założenia i efekty terapii logopedycznej. Studium przypadku","authors":"Karolina Samsonowicz, Justyna Piniaha, Anna Geremek-Samsonowicz","doi":"10.17431/901571","DOIUrl":"https://doi.org/10.17431/901571","url":null,"abstract":"The paper presents a case study of a patient (age 5.2) with congenital central hypoventilation syndrome (CCHS) and tracheostomy. Its aim is to discuss the child’s speech development and speech therapy. The presented case due to the rare disease, unusual range of observed abnormalities and the lack of literature (mainly casuistry) required a special individual approach both in the field of diagnostics as well as planning and implementation of the therapy. For this reason, the ability to predict effects of the therapy and the pace of expected changes was significantly reduced. The initial state of patient’s speech (age 3.9) showed significant – approx. 20-month delay but only in the field of speech production. After 1.5 year of therapy the patient’s language development level (excluding the phonetic-phonological subsystem) did not differ from the standards established for Polish speaking children. Articulation, however, remained significantly and atypically impaired at this stage of development, what required further intensified and strongly individualized therapy.","PeriodicalId":214555,"journal":{"name":"Nowa Audiofonologia","volume":"5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134142512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
H. Skarżyńśki, K. Osińska, Marcin Kwasiuk, Piotr Skarżyński
{"title":"Zastosowania systemu Vibrant Soundbridge w obustronnej wadzie wrodzonej ucha środkowego i zewnętrznego u dziecka","authors":"H. Skarżyńśki, K. Osińska, Marcin Kwasiuk, Piotr Skarżyński","doi":"10.17431/1002751","DOIUrl":"https://doi.org/10.17431/1002751","url":null,"abstract":"","PeriodicalId":214555,"journal":{"name":"Nowa Audiofonologia","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123949795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Justyna Kutyba, K. Kochanek, Adam Piłka, Piotr Skarżyński
{"title":"Wykorzystanie aplikacji uSound do badań przesiewowych słuchu u osób dorosłych","authors":"Justyna Kutyba, K. Kochanek, Adam Piłka, Piotr Skarżyński","doi":"10.17431/1003010","DOIUrl":"https://doi.org/10.17431/1003010","url":null,"abstract":"","PeriodicalId":214555,"journal":{"name":"Nowa Audiofonologia","volume":"2 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129183043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}