Psychological factors have been described as important for tinnitus severity, but attempts to incorporate them in one picture are sparse. This study investigated to what extent traits (personality), states (depressive and anxiety symptoms), sociodemographic factors and questioning environment influence tinnitus severity perception and how they interplay. Data were obtained from 212 subjects in a survey that was undertaken in 2016 at Vilnius University hospital and via internet. Measures included the Tinnitus Handicap Inventory (THI), Visual Analogue Scale (VAS), Hospital Anxiety and Depression Scale (HADS), Big Five Personality Dimensions Scale and sociodemographic questions. A series of stepwise forward and multiple regression analyses were undertaken to discover how factors interconnect. Female gender, age, living in rural area, but not level of education, were found to be associated with THI and HADS. Total HADS score and of both subscales were linked to scores on THI, VAS scales and all personality traits, except agreeableness (and consciousness for anxiety). Anxiety was the most important predictor for tinnitus severity, followed by depressive symptoms. Only neuroticism from personality dimensions was a predictor of THI score, whereas THI scores did not predict scores on neuroticism. All results in scales were higher in the internet group, except agreeableness and neuroticism, while extroversion correlated negatively with THI score only in the hospital group. Tinnitus severity was highly correlated with depressive, anxiety symptoms and neuroticism. Respondents recruited through internet had higher scores on most parameters. Results emphasize the importance of psychological factors in tinnitus management.

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Introduction:Alport syndrome (AS) is an inherited disorder characterized by hematuria, proteinuria, and kidney function impairment, and frequently associated with extrarenal manifestations. Pathogenic variants in COL4A5 usually cause X-linked Alport syndrome (XLAS), whereas those in the COL4A3 or COL4A4 genes are associated with autosomal dominant (AD) or recessive (AR) inheritance. To date, more than 3000 different disease-causing variants in COL4A5, COL4A3, and COL4A4 have been identified. The aim of this study was to evaluate the clinical and genetic spectrum of individuals with novel, pathogenic or likely pathogenic variants in the COL4A3-A5 genes in a previously unstudied cohort.MethodsIn this study molecular analysis by next generation sequencing (NGS) was performed on individuals from a Lithuanian cohort, with suspected AS. The presence of AS was assessed by reviewing clinical evidence of hematuria, proteinuria, chronic kidney disease (CKD), kidney failure (KF), a family history of AS or persistent hematuria, and specific histological lesions in the kidney biopsy such as thinning or lamellation of the glomerular basement membrane (GBM). Clinical, genetic, laboratory, and pathology data were reviewed. The novelty of the COL4A3-A5 variants was confirmed in the genetic variant databases (Centogene, Franklin, ClinVar, Varsome, InterVar). Only undescribed variants were included in this study.ResultsMolecular testing of 171 suspected individuals led to the detection of 99 individuals with 44 disease causing variants including 27, previously undescribed changes, with the frequency of 9/27 (33,3%) in genes COL4A5, COL4A3 and COL4A4 equally. Three individuals were determined as having digenic AS causing variants: one in COL4A3 and COL4A4, two in COL4A4 and COL4A5. The most prevalent alterations in genes COL4A3-5 were missense variants (n = 19), while splice site, frameshift, unknown variant and stop codon changes were detected more in genes COL4A4 and COL4A5 and accounted for 3, 3, 1 and 1 of all novel variants, respectively.ConclusionGenotype-phenotype correlation analysis suggested that some variants demonstrated intra-familial phenotypic variability. These novel variants represented more than half of all the variants found in a cohort of 171 individuals from 109 unrelated families who underwent testing. Our study expands the knowledge of the genetic and phenotypic spectrum for AS.

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Reikšminiai žodžiai: toninė ribinė audiometrija, ypač aukštų dažnių audiometrija, klausos sutrikimas, triukšmas. Darbo tikslas. Įvertinti trumpos triukšmo ekspozicijos įtaką klausos sutrikimų atsiradimui naudojant toninę ribinę ir ypač aukštų dažnių audiometriją. Tyrimo medžiaga ir metodai. Tyrime dalyvavo 20 studentų (tirta 40 ausų). Tiriamiesiems atliktos toninė ribinė (0,125–8 kHz) ir ypač aukštų dažnių (8–16 kHz) audiometrijos: prieš ir per 24 val. po triukšmo (110–125 dB) ekspozicijos. Atlikta anketinė apklausa iš 18 klausimų. Statistiniai skaičiavimai atlikti „Microsoft Excel“ programa. Rezultatai. Tirta 45 proc. vaikinų, 55 proc. merginų, vidutinis amžius – 23,2±1,3 metų. Ypač aukštų dažnių audiometrijos klausos slenksčių vidurkiai: prieš triukšmą 10,8 ± 14,8 dB, po triukšmo 12,6 ± 13,5 dB (p < 0,05). Daugiau nei 3 valandas triukšme praleidusių asmenų (40 proc.) ypač aukštų dažnių audiometrijos rezultatų vidurkiai: prieš triukšmą 5,4 ± 9,9 dB, po triukšmo 7,7 ± 9,4 dB, (p < 0,05). Moterims pastebėtas klausos pablogėjimas 8–16 kHz diapazone (prieš triukšmą 10,6 ± 14,9 dB, po triukšmo 13 ± 13,8 dB) (p < 0,05). Vyrų ypač aukštų dažnių klausos slenksčių vidurkiai: prieš triukšmą 11 ± 14 dB, po triukšmo 12,1 ± 13,3 dB (p > 0,05). Po triukšmo ekspozicijos 65 proc. studentų jautė subjektyvius klausos sutrikimus. Jiems 8–16 kHz dažniuose pastebėtas klausos slenksčių pakilimas (p < 0,05): prieš triukšmą 11,7 ± 16,1 dB, po triukšmo 13,5 ± 15 dB. Išvados. Ypač aukštų dažnių audiometrijos metodu nustatytas statistiškai patikimas klausos pablogėjimas po trumpos triukšmo ekspozicijos. Toninėje ribinėje audiometrijoje statistiškai patikimų klausos slenksčio pokyčių nebuvo rasta. Daugiau nei 3 valandas triukšme praleidusių asmenų klausos slenksčių pokyčio intervalai ypač aukštų dažnių diapazone yra didesni nei buvusių trumpiau. Moterims pastebimas ryškesnis klausos pablogėjimas nei vyrams. Asmenims, subjektyviai jautusiems klausos sutrikimus po triukšmo, audiometrinio tyrimo metu buvo nustatytas klausos slenksčio pakilimas.