Audiological Manifestations in Patients with Granulomatosis with Polyangiitis.

Background and Objectives: Granulomatosis with Polyangiitis (GPA) is a rare, autoimmune, multisystemic disease characterized by vasculitis and necrotizing granuloma that commonly affects the upper and lower respiratory tract and kidneys. Audiovestibular dysfunction in GPA diseases may have different clinical presentations. The aim of the present study was to evaluate hearing function in patients with GPA and to compare the results with a healthy control group. Materials and Methods: A total of 34 individuals participated in the study. The GPA group consisted of 14 participants, and the control group was composed of 20 healthy participants with no signs or symptoms of ear disease. The ages ranged from 18 to 65 years old, with a mean age of 43.8 years. The participants underwent a complete audiological evaluation using otoscopy, impedance audiometry, pure tone audiometry, speech audiometry-evaluation of speech thresholds, and speech recognition in quiet. Both ears were tested. All of the participants of the study were native Lithuanian speakers. Data were statistically analyzed using the Statistical Analysis System software SAS® Studio 3.8. A p value < 0.05 was regarded as statistically significant. Results: 92.85% of patients from the GPA group reported hearing-related symptoms: hearing loss, tinnitus, and fullness in the ears. The arithmetic means of all hearing thresholds at frequencies from 125 Hz to 8000 Hz were significantly higher in the GPA group. The results revealed statistically significant differences between the two groups in the Speech Detection Threshold, Speech Recognition Threshold, Speech Discomfort level, and Word Recognition Scores. Conclusions: The frequency of hearing loss, the average hearing thresholds, and speech thresholds were higher in GPA patients than in healthy individuals. The most common type of hearing loss was sensorineural. Audiological assessments should be considered during the routine evaluation of patients with GPA disease to prevent hearing-related disabilities.

Late Recurrence of a Rare Middle Ear Neuroendocrine Tumor With an Intracranial Extension to the Temporal Fossa: A Case Report.

We report a clinical case of an extremely rare neuroendocrine tumor of the right middle ear (MeNET) that recurred after 13 years with a local extension into the right temporal fossa. In the current medical literature, there are approximately 150 cases of MeNETs and even fewer cases with more than 10 years of follow-up, recurrence, and intracranial tumor progression. Therefore, we believe that this paper can make an important contribution to the existing and future knowledge about this disease. The purpose of this article is to present our experience in treating such a rare neoplasm in a 35-year-old woman. The patient initially complained of worsening hearing in her right ear over the past year. The final diagnosis was made based on the findings of computed tomography (CT), magnetic resonance imaging (MRI), and histological and immunohistochemical evaluation of excisional biopsies of the original and recurrent tumors. The primary tumor masses were removed with clear resection margins, and the ossicular chain was reconstructed. The patient has been monitored clinically and radiologically with temporal bone CTs every year and MRIs three times in general since then. A postoperative audiogram showed remaining mixed hearing loss in the right ear that eventually worsened as the tumor grew. Tumor recurrence and progression after 156 months (13 years) were seen on CT and MRI, requiring further treatment. After resection of the recurrent tumor, paresis of the right facial nerve developed, which was treated with dexamethasone. The surgical treatment caused the initial symptoms to disappear, but the facial nerve paresis persisted with mild functional improvement. The patient is not receiving adjuvant radiotherapy and is being monitored closely because the tumor may recur in the future.

Internet-delivered cognitive behavioral therapy for tinnitus compared to Internet-delivered mindfulness for tinnitus: a study protocol of a randomized controlled trial.

BACKGROUND: Tinnitus affects around 15% of the population and can be a debilitating condition for a sizeable part of them. However, effective evidence-based treatments are scarce. One recommended treatment for tinnitus is cognitive behavioral therapy which has been found to be effective when delivered online. However, more treatments including mindfulness-based interventions have been studied recently in an attempt to facilitate the availability of effective treatments. There are promising findings showing great effects in reducing tinnitus-induced distress and some evidence about the efficacy of such intervention delivered online. However, there is a lack of evidence on how these two treatments compare against one another. Therefore, the aim of this study will be to compare Internet-delivered cognitive behavioral therapy for tinnitus against an Internet-delivered mindfulness-based tinnitus stress reduction intervention in a three-armed randomized controlled trial with a waiting list control condition. METHODS: This study will be a randomized controlled trial seeking to recruit Lithuanian-speaking individuals suffering from chronic tinnitus. The self-report measure Tinnitus Handicap Inventory will be used. Self-referred participants will be randomized into one of three study arms: Internet-delivered cognitive behavioral therapy, Internet-delivered mindfulness-based tinnitus stress reduction intervention, or a waiting-list control group. Post-treatment measures will be taken at the end of the 8-week-long intervention (or waiting). Long-term efficacy will be measured 3 and 12 months post-treatment. DISCUSSION: Internet-delivered interventions offer a range of benefits for delivering evidence-based treatments. This is the first randomized controlled trial to directly compare Internet-delivered CBT and MBTSR for tinnitus in a non-inferiority trial. TRIAL REGISTRATION: ClinicalTrials.gov NCT05705323. Registered on January 30, 2023.

Immunoglobulin G4-Related Disease Presenting as Temporal Bone Lesion with Facial Nerve Palsy.

Immunoglobulin G4-related disease (IgG4-RD) is a systemic condition which could present as local infiltration of skull base structures. We report a case of IgG4-RD with infiltration of the temporal bone and surrounding structures in a patient with systemic vasculitis on systemic steroids. A 31-year-old woman presented with right-sided facial weakness, headache, and right ear hearing loss. On examination, redness and retraction of the right tympanic membrane and facial paresis (House-Brackman IV) were noted. Computed tomography imaging showed mastoiditis, temporal lobe stroke, and brain abscess. Magnetic resonance imaging (MRI) showed infiltration in the infratemporal fossa, nasopharynx, spreading along the Eustachian tube and perineurally along the branches of CN V and CN VII intracranially, forming a dural based mass in the middle cranial fossa. Intracranial mass compressed the temporal lobe of the brain, causing perifocal brain edema. Endoscopic biopsy of the nasopharynx was chosen as the least invasive method. It showed marked fibrosis of the tissue, dense lymphoplasmacytic infiltrates, and an increased number of IGG4-positive plasma cells. Serum IgG4 levels were below the diagnostic criteria of IgG4-RD, but histological characteristics of IgG4-RD were met. The patient was treated with high-dose oral prednisolone. Resolution of symptoms, including facial nerve paresis, was observed and infiltration in the nasopharynx, infratemporal fossa decreased on subsequent MRI tests. No recurrence was noted on the follow-up of 16 months. The case presented itself as a diagnostic challenge for a multidisciplinary team to differentiate pathology caused by either IgG4-RD, systemic vasculitis, or atypic mastoiditis. MRI and histological reports were essential to establish a correct diagnosis.

Adaptation and Validation of the Lithuanian Version of the Pediatric Voice Handicap Index.

OBJECTIVES: The aim of this study was to develop the Lithuanian version of the Pediatric Voice Handicap Index (pVHI) and to assess its psychometric characteristics. METHODS: The Lithuanian version of the pVHI was prepared according to the standard requirements for the questionnaire translation and adaptation procedure. It also included forward and backward translations of the original questionnaire, as well as a committee review and psychometric testing of the final version of the pVHI. A total of 126 children between 4 and 13 years of age were included in the study. Two study groups were formed: a group consisting of children with dysphonia (n = 70) and a control group of children without any alterations in their voice (n = 56). The questionnaire was always completed by their parents. The results were statistically analysed to assess the reliability, validity, sensitivity and specificity of the Lithuanian version of the pVHI. RESULTS: High internal consistency of the Lithuanian version of the pVHI was determined (Cronbach's α = 0.938). The test-retest analysis also showed a high correlation between the two tests (r = 0.949) for both the dysphonic and control groups. The mean overall pVHI score was significantly higher (P < 0.001) in the dysphonic group than in the control group: 26.16 ± 11.84 and 2.43 ± 2.61, respectively. Similar results were obtained for all domains of pVHI. The most sensitive and specific limiting value for discrimination between the clinical and control groups was the sum of 8 points. CONCLUSIONS: The Lithuanian version of the pVHI is a reliable and valid instrument for the evaluation of the Voice Handicap Index in the pediatric population and can be easily applied in daily clinical practice.

Association Between Structure-function Characteristics and Visual Field Outcomes in Glaucoma Subjects With Intraocular Pressure Reduction After Trabeculectomy.

PRECIS: Improvements in post-trabeculectomy visual field (VF) outcomes were found to be significantly associated with preoperative nerve fiber layer thickness parameters extracted from the sectorized structure-function relationship, baseline VF, and severity of glaucoma. OBJECTIVE: To determine whether the preoperative structure-function relationship helps to predict visual outcomes at 1-year post-trabeculectomy. PATIENTS AND METHODS: In total, 91 eyes from 87 participants who successfully underwent trabeculectomy were included in our study. All eyes received optical coherence tomography imaging and VF assessment using 30-2 standard automated perimetry preoperatively at baseline and postoperatively 1 year after trabeculectomy. The linear mixed-model analysis was used to assess the association of structure and function at baseline, and multivariate analysis to investigate factors associated with postoperative VF outcomes. RESULTS: Results from multivariate and univariate analysis for VF 1 year after trabeculectomy showed that a positive preoperative retinal nerve fiber layer thickness deviation from the structure-function model was found to be significantly associated with improved postoperative VF outcomes [ß=0.06 dB/µm; 95% confidence interval (CI), 0.03-0.09]. Other significant factors included baseline VF MD (ß=-0.18; 95% CI, -0.23 to -0.13) and the presence of severe glaucoma (ß=-1.69; 95% CI, -2.80 to -0.57). Intraocular pressure was positively associated with improved VF outcomes only in univariate analysis (ß=0.06; 95% CI, 0.01-0.11). CONCLUSIONS AND RELEVANCE: Characteristics derived from the baseline structure-function relationship were found to be strongly associated with postoperative VF outcomes. These findings suggest that the structure-function relationship could potentially have a role in predicting VF progression after trabeculectomy.

Etiological profile of hearing loss amongst Lithuanian pediatric cochlear implant users.

INTRODUCTION: Congenital sensorineural hearing loss is a heterogeneous disorder; its etiological profile varies between populations. Pathogenic variants of GJB2 gene are the major cause of non-syndromic hearing loss. Congenital cytomegalovirus infection (cCMV) is the most important prenatal etiological factor causing hearing loss and other disorders. Perinatal events, syndromes, postnatal infections or traumas are less common. Causes of the remaining one third of hearing loss cases are unknown. OBJECTIVES: To determine the etiological profile of hearing loss in pediatric cochlear implant users in Lithuanian population. METHODS: The data of 122 children (70 male/52 female; aged 7.6 ± 3.3 years) cochlear implant users were analysed. Medical records of all children recruited in Santaros Clinics (Vilnius, Lithuania) were analysed to identify prenatal, perinatal, or postnatal risk factors based on the adapted list proposed by the Joint Committee of Infant Hearing. Genetic counselling and testing according to the scheme were performed to 101 children. DNA of 117 children was extracted from the DBS on Guthrie cards and CMV DNA detected using real time PCR. RESULTS: Non-syndromic hearing loss was diagnosed in 65 cases (53.3%), 58 of which were GJB2 gene-associated; syndromic hearing loss was diagnosed to 8 children (6.6%). Perinatal (prematurity, low birth weight, hypoxia, hyperbilirubinemia, sepsis, ototoxicity, and meningitis) and postnatal (meningitis) risk factors were associated with hearing loss in 16 (13.1%) and 4 (3.3%) study participants respectively. CMV DNA was detected in 12 samples (9.8%). The cause of hearing loss remained unknown only for 17 (13.9%) children. CONCLUSIONS: The major cause of HL in the current study was GJB2 gene alterations. Only 14% of the cohort had congenital hearing loss of unknown origin.

One year structural and functional glaucoma progression after trabeculectomy.

We evaluated the changes in visual field mean deviation (VF MD) and retinal nerve fibre layer (RNFL) thickness in glaucoma patients undergoing trabeculectomy. One hundred patients were examined with VF and spectral-domain optical coherence tomography (OCT) before trabeculectomy and 4 follow-up visits over one year. Linear mixed models were used to investigate factors associated with VF and RNFL. VF improved during the first 3 months of follow-up (2.55 ± 1.06 dB/year) and worsened at later visits (-1.14 ± 0.29 dB/year). RNFL thickness reduced by -4.21 ± 0.25 µm/year from 1st month of follow-up. Eyes with an absence of initial VF improvement (ß = 0.64; 0.30-0.98), RNFL thinning (ß = 0.15; 0.08-0.23), increasing intraocular pressure (IOP; ß = -0.11; -0.18 to -0.03) and severe glaucoma (ß = -10.82; -13.61 to -8.02) were associated with VF deterioration. Eyes with VF deterioration (ß = 0.19; 0.08-0.29), increasing IOP (ß = -0.09; -0.17 to -0.01), and moderate (ß = -6.33; -12.17 to -0.49) or severe glaucoma (ß = -19.58; -24.63 to -14.52) were associated with RNFL thinning. Changes in RNFL structure and function occur over a 1-year follow-up period after trabeculectomy. Early VF improvement is more likely to occur in patients with mild/moderate glaucoma, whereas those with severe glaucoma show greater decline over one year. Our findings indicate that progression is observable using OCT, even in late-stage glaucoma.

The Importance of the Temporal Bone 3T MR Imaging in the Diagnosis of Menière's Disease.

BACKGROUND: The aim of this study was to evaluate endolymphatic hydrops using the 3T temporal bone magnetic resonance imaging (MRI), performed according to the chosen protocol, and determine whether it could be applied as an objective diagnostic tool for Menière's disease. METHODS: 105 participants diagnosed with probable (n = 50) and definite (n = 55) Menière's disease were included in this prospective study at Vilnius University Hospital, Santaros Clinics. Audiometry, vestibular function tests, videonystagmography, and computer posturography were performed before MRI. The 3T MRI with gadolinium contrast was performed to evaluate the endolymphatic hydrops. Imaging protocol consisted of 3D-FLAIR and 3D T2DRIVE sequences. Vestibular endolymphatic sac was interpreted as enlarged if occupied more than 50% of the vestibular area. RESULTS: 78.1% of subjects had abnormal MRI findings other than hydrops, and it was more than 90% (50/55) of patients in the definite MD group (p < 0.001). Changes in caloric test were observed in 63.8% of subjects in general, and in 76.4% of patients with a definite Menière's disease. The side of the endolymphatic hydrops observed on MR imaging corresponded to the clinical diagnosis of the Menière's disease based on the results of audiometry (p < 0.001) and unilateral weakness (p < 0.001). Endolymphatic hydrops on MRI and directional preponderance in caloric test were two independent predictors of the definite Menière's disease. CONCLUSIONS: Temporal bone 3T MRI with gadolinium contrast is clinically superior to confirm the diagnosis of Menière's disease. Grade II endolymphatic hydrops on MRI, directional preponderance, and unilateral weakness on caloric test were independent predictors for the definite Menière's disease.

Validation and Factor Analysis of the Lithuanian Version of the Dizziness Handicap Inventory.

OBJECTIVES: This study aimed to validate the Lithuanian version of the Dizziness Handicap Inventory (DHI-L), investigate its reliability, and perform factor analysis. MATERIALS AND METHODS: A standard protocol of translation was followed for psychometric instruments. A total of 108 patients (75.9% women), mean age 51.9 years, with peripheral or central dizziness and vertigo participated in our cross-sectional study. The internal consistency was measured by Cronbach's alpha coefficient and corrected item-total correlations (CI-TCs). After a week, 65 of the recruited patients were again asked to fill out Dizziness Handicap Inventory (DHI)-L to ascertain test-retest reliability (intraclass correlation, ICC). Concurrent validation was performed using Pearson correlation between the total score and subscales of DHI-L and the eight scales of Short Form-36 Health Survey (SF-36). Finally, the factor structure of the DHI was assessed by principal component analysis (PCA). RESULTS: The Cronbach's alpha coefficient was very high (0.91). CI-TCs for DHI-L total scale ranged from 0.33 to 0.67. The correlations between DHI and SF-36 were high to weak. The ICC was excellent for the total score and its subscales. Our proposed two-factor model explained 44.5% of the variance. The first factor indicated disability in daily activities and psychological effect of handicap. The second factor comprised of items that pertained to postural instability. CONCLUSION: The DHI-L has shown good reliability and validity. Results did not support the original subscale structure of the DHI. As more studies need to be done to restructure DHI, we recommend only using the total DHI score as a measure of dizziness handicap.

Diagnosis and treatment choices of suspected benign paroxysmal positional vertigo: current approach of general practitioners, neurologists, and ENT physicians.

PURPOSE: Benign paroxysmal positional vertigo (BPPV) is a frequently underdiagnosed cause of vertigo, potentially due to the underuse of diagnostic and therapeutic canalith repositioning procedures (CRPs). We aimed to investigate self-reported use of the diagnostic and therapeutic approach to BPPV patients by Lithuanian neurologists, ear, nose, and throat (ENT) physicians, and general practitioners (GPs), and to explore potential reasons for the underuse of the maneuvers. METHODS: Neurologists, ENT physicians, and GPs were invited to complete a written questionnaire focused on diagnostic and therapeutic practices related to BPPV. Between-group differences and associations between responses were analyzed statistically. RESULTS: In total, 97 neurologists, 85 ENT physicians and 142 GPs (21.1%, 26.8%, and 5.7%, respectively, of all corresponding licensed Lithuanian physicians) completed the questionnaire. 24% of neurologists, 33% ENT physicians and 50% GPs do not perform diagnostic maneuvers for patients with suspected BPPV, and 28%, 61%, and 84%, respectively, do not perform CRPs. Years of clinical experience was a negative predictor of CRP performance [OR 0.97 (95% CI 0.95-0.99), p = 0.001]. Frequent reasons for not performing CRPs were time taken for the procedure, fear of provoking symptoms, and lack of knowledge. All physicians frequently ordered additional imaging or consultations for suspected BPPV and reported prescribing a range of medications. CONCLUSIONS: A significant proportion of Lithuanian neurologists, ENT physicians, and GPs do not employ diagnostic maneuvers and CRPs for BPPV patients, contrary to established guidelines. Lack of expertise and time available is a common culprit that leads to unnecessary drug prescribing and investigation.

Long-Term Shape, Curvature, and Depth Changes of the Lamina Cribrosa after Trabeculectomy.

PURPOSE: To evaluate changes in lamina cribrosa (LC) shape, curvature, and depth after trabeculectomy. DESIGN: Prospective, observational case series. PARTICIPANTS: A total of 112 patients (118 eyes) with open- or closed-angle glaucoma undergoing trabeculectomy. METHODS: The optic nerve head was imaged using enhanced depth imaging spectral-domain OCT before trabeculectomy and at 6 follow-up visits throughout the first postoperative year. The anterior LC surface and Bruch's membrane opening were marked in the serial horizontal B scans for the analysis of LC parameters using Morphology 1.0 software. Postoperative morphologic LC changes were assessed. MAIN OUTCOME MEASURES: The postoperative LC global shape index (GSI), nasal-temporal (N-T) and superior-inferior (S-I) curvatures, and mean and sectoral LC depth (LCD). RESULTS: The mean LC GSI increased only during the early postoperative period (P = 0.02), resulting in a change toward the saddle-rut shape. There was a flattening of the LC curvature in N-T (P < 0.001) and S-I (P = 0.003) meridians 12 months after trabeculectomy. A shallowing of the mean and sectoral LCD from baseline was significant throughout the entire follow-up period (P < 0.001) and progressed up to postoperative month 6. Twenty-eight patients showed a deepening of the LC from baseline in at least 1 visit. Eyes with shallower LCD compared with baseline responded to intraocular pressure (IOP) reduction with greater movement anteriorly than eyes with deeper LCD (P = 0.002). Greater IOP reduction (P = 0.007), less retinal nerve fiber layer thinning over the year (P = 0.003), and more superiorly-inferiorly curved baseline LC (P = 0.001) were associated with an increase in GSI. Younger age and IOP reduction were related to LC shallowing (P < 0.001, P = 0.002) and N-T flattening (P < 0.001). CONCLUSIONS: In most eyes, trabeculectomy resulted in long-term flattening and shallowing of the LC. However, in some eyes, LC deepened from baseline. Change in LC global shape appeared to be temporal. Reduction in IOP plays an important role in the early phase of LC change; however, in the later phase, LC remodeling may play a crucial role in view of stable IOP.

Evaluation of quality of life after paediatric cochlear implantation.

BACKGROUND: Cochlear implantation (CI) is the main treatment method for deaf children. CI influences not only communication, but also psychosocial outcomes in children with severe to profound hearing loss. Focusing on issues specific to CI (e.g., self-reliance, social relations, education) may provide a more accurate and relative view of functional status of paediatric cochlear implant users. The objectives of this study were to translate into Lithuanian and adapt an international questionnaire of the quality of life after cochlear implantation and to evaluate parental perspectives regarding CI and the child's progress after a minimum of two years after surgery. MATERIALS AND METHODS: The parental questionnaire The Children with Cochlear Implants: Parental Perspectives CCIPP was used to evaluate the quality of life following cochlear implantation. The questionnaire includes 74 items covering two main domains: decision-making (26 items) and the outcomes of implantation (48 items). Quality of life is estimated according to the scores of eight sub-domains: communication, general functioning, well-being, self-reliance, social relations, education, effects of implantation, and supporting the child. RESULTS: The paediatric sample consisted of 11 (39%) girls and 17 (61%) boys, whose mean age at the time of cochlear implantation was 2.41 ± 2.25 years, mean duration of the implant use 3.7 ± 1.3 years. All the grand means in the outcomes of implantation domain exceeded 3 on the 5-point scale, meaning that parents viewed the quality of life of their children as either average or better. Parents rated the sub-domains of communication (3.90 ± 0.77 points), social relations (4.05 ± 0.41), and supporting the child (3.89 ± 0.49) most positively. CONCLUSIONS: According to parents, the quality of life improves after the cochlear implantation, especially in the fields of communication, social relations and supporting the child.

Changes in macular thickness after trabeculectomy with or without adjunctive 5-fluorouracil.

CONFLICT OF INTEREST: None of the authors have any conflict of interest to declare, financial or otherwise. No financial or other support was received for the study. BACKGROUND: The aim of the study was to assess changes in macular thickness after trabeculectomy in respect to the use of 5-fluorouracil (5-FU) as well as to analyse possible associations between the postoperative changes in macular thickness and intraocular pressure (IOP). MATERIALS AND METHODS: The prospective observational study included 106 eyes (100 patients) with glaucoma who underwent trabeculectomy with or without 5-FU. Subsequently 5-FU needling was performed if failure of the filtrating bleb occurred. Macular thickness and the IOP were evaluated before, one week, and six months after the surgery. The mean and sectoral macular thickness was assessed using spectral domain optical coherence tomography. RESULTS: The mean (±SD) IOP reduced from 27.71 (±6.88) mmHg at baseline to 18.3 (±8.1) mmHg one week (p < 0.001) and 15.1 (±7.6) mmHg six months (p < 0.001) after trabeculectomy. One week postoperatively, the mean macular thickness increased from 285.19 (±15.98) µm to 288.9 (±16.31) µm (p < 0.001); macular thickening was significant in all subfields (p < 0.001) and correlated positively with IOP reduction (rho = 0.312, p = 0.001 for central subfield). After six months, macula remained thicker only at the central and inner nasal subfields (p < 0.05). The changes in macular thickness were not affected by the use of 5-fluorouracil. CONCLUSIONS: Trabeculectomy may induce a slight macular thickening which is more pronounced in the early postoperative period. The IOP reduction plays an important role in this process and is associated with thicker postoperative macula. However, the use of adjunctive 5-FU has no influence on macular thickness after glaucoma surgery despite its potential hypotonic, inflammatory and cytotoxic effects.

The role of questioning environment, personality traits, depressive and anxiety symptoms in tinnitus severity perception.

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.

Changes in choroidal thickness after intraocular pressure reduction following trabeculectomy.

PURPOSE: To evaluate the changes of peripapillary and subfoveal choroidal thickness (CT) after trabeculectomy. METHODS: Prospective longitudinal study included 37 eyes with open-angle glaucoma. The subfoveal and peripapillary CT was measured using enhanced depth imaging spectral domain optical coherence tomography before trabeculectomy and 1 week, 3 and 6 months postoperatively. The associations between changes in the CT, intraocular pressure (IOP) and axial length were analysed. RESULTS: The medium subfoveal CT (IQR) increased from 182 (97) µm at baseline to 267 (107) µm 1 week, 213 (97) µm 3 months and 207 (91) µm 6 months postoperatively (p < 0.001). The peripapillary CT increased in all four quadrants at all follow-ups (p < 0.05). The subfoveal and peripapillary choroidal thickening correlated with the magnitude of IOP reduction (p < 0.05) and axial length shortening (p < 0.01) during whole follow-up period. There was a peripapillary CT increase of 2.9 µm per mmHg of IOP reduction (p < 0.001, CI 1.5-4.4) and 4.8 µm per mm of baseline axial length (p = 0.049, CI 0.03-9.6) 1 week postoperatively after adjustment for baseline IOP. Six months postoperatively, the decrease in axial length was the only factor associated with peripapillary choroidal thickening (p = 0.031; regression coefficient: 73.29 µm/mm, CI 7.1-139.5). CONCLUSION: Intraocular pressure (IOP) reduction after trabeculectomy caused the increase in subfoveal and peripapillary CT for at least 6 months postoperatively correlating with greater IOP reduction and axial length shortening. In the long term, the decrease in axial eye length, but not IOP, was the only factor to be associated with peripapillary choroidal thickening.

Eustachian Tube Opening Measurement by Sonotubometry Using Perfect Sequences for Healthy Adults.

OBJECTIVES: The aim of this study was to establish the rate variation of sonotubometric measurements using a specific broadband class of signals, the so-called perfect sequences (PSEQ) among healthy adults and to identify an optimal and technically simple test to provoke Eustachian tube (ET) openings. METHODS: Sonotubometry was performed on 105 healthy adult subjects. Three different consecutive maneuvers were performed for ET opening: dry swallowing, water swallowing (a small [2 mL] and a large [5 mL] water bolus). Values of the amplitude and duration of each measured ET opening were calculated. RESULTS: A total of 6,300 measurements were performed. Sonotubometric ET openings were detected for all subjects but not for each measurement. In 6,180 of 6,300 measurements (98.1%), objective ET openings were registered. In 11 of 105 subjects (10.5%) at least one sonotubometric ET opening was not detected. The mean ET opening duration time and the mean sound amplitude similar for all performed test and were 270 (SD, ±96) msec, 13.48 (SD, ±6.57) dB. CONCLUSION: Sonotubometry based on PSEQ stimuli is a reliable methodology to assess the ET opening function in healthy subjects. Mean ET opening duration time and the mean sound wave amplitude performed similarly in all analysed tests, hence it might be concluded that dry (saliva) and water swallowing are reliable sonotubometric maneuvers and may be used when examining ET opening function. The size of a sip during water swallowing does not affect the sonotubometry result. All maneuvers can be equally used as the optimal test, and water swallow is most comfortable for the subject.

The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.

BACKGROUND: Congenital hearing loss (CHL) is diagnosed in 1 - 2 newborns in 1000, genetic factors contribute to two thirds of CHL cases in industrialised countries. Mutations of the GJB2 gene located in the DFNB1 locus (13q11-12) are a major cause of CHL worldwide. The aim of this cross-sectional study was to assess the contribution of the DFNB1 locus containing the GJB2 and GJB6 genes in the development of early onset hearing loss in the affected group of participants, to determine the population-specific mutational profile and DFNB1-related HL burden in Lithuanian population. METHODS: Clinical data were obtained from a collection of 158 affected participants (146 unrelated probands) with early onset non-syndromic HL. GJB2 and GJB6 gene sequencing and GJB6 gene deletion testing were performed. The data of GJB2 and GJB6 gene sequencing in 98 participants in group of self-reported healthy Lithuanian inhabitants were analysed. Statistic summary, homogeneity tests, and logistic regression analysis were used for the assessment of genotype-phenotype correlation. RESULTS: Our findings show 57.5% of affected participants with two pathogenic GJB2 gene mutations identified. The most prevalent GJB2 mutations were c.35delG, p. (Gly12Valfs*2) (rs80338939) and c.313_326del14, p. (Lys105Glyfs*5) (rs111033253) with allele frequencies 64.7% and 28.3% respectively. GJB6 gene mutations were not identified in the affected group of participants. The statistical analysis revealed significant differences between GJB2(-) and GJB2(+) groups in disease severity (p = 0.001), and family history (p = 0.01). The probability of identification of GJB2 mutations in patients with various HL characteristics was estimated. The carrier rate of GJB2 gene mutations - 7.1% (~1 in 14) was identified in the group of healthy participants and a high frequency of GJB2-related hearing loss was estimated in our population. DISCUSSION: The results show a very high proportion of GJB2-positive individuals in the research group affected with sensorineural HL. The allele frequency of c.35delG mutation (64.7 %) is consistent with many previously published studies in groups of affected individuals of Caucasian populations. The high frequency of the c.313_326del14 (28.3 % of pathogenic alleles) mutation in affected group of participants was an unexpected finding in our study suggesting not only a high frequency of carriers of this mutation in our population but also its possible origin in Lithuanian ancestors. The high frequency of carriers of the c.313_326del14 mutation in the entire Lithuanian population is supported by it being identified twice in the ethnic Lithuanian group of healthy participants (a frequency 2.0 % of carriers in the study group). CONCLUSION: Analysis of the allele frequency of GJB2 gene mutations revealed a high proportion of c. 313_326del14 (rs111033253) mutations in the GJB2-positive group suggesting its possible origin in Lithuanian forebears. The high frequency of carriers of GJB2 gene mutations in the group of healthy participants corresponds to the substantial frequency of GJB2-associated HL in Lithuania. The observations of the study indicate the significant contribution of GJB2 gene mutations to the pathogenesis of the disorder in the Lithuanian population and will contribute to introducing principles to predict the characteristics of the disease in patients.

Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified.

Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare autosomal recessive disorder especially in countries where consanguinity is uncommon. Three main features are characteristic of the disease - megaloblastic anemia, early onset deafness, and non-type I diabetes. TRMAS is a Mendelian disorder; a gene SLC19A2 coding high affinity thiamine transporter mediating vitamin B1 uptake through cell membrane has been identified. We present the first patient with TRMAS in Lithuania - a 3-year-old boy born to a non-consanguineous family with a novel homozygous SLC19A2 gene mutation. The patient had insulin dependent diabetes (onset 11 months), respiratory illness (onset 11 months), bilateral profound hearing loss (onset at 7 months, verified at 20 months), refractory anemia (onset 2 years), and decreased vision acuity and photophobia (onset 2.5 years). The psychomotor abilities developed according to age. Phenotypic evaluation did not reveal any dysmorphic features. The clinical diagnosis of TRMAS was suspected and daily supplementation with thiamine 100 mg was started. The condition of the patient markedly improved several days after the initiation of treatment. The results of SLC19A2 gene molecular testing confirmed the clinical diagnosis - novel homozygous c.[205G>T], p.[(Val69Phe)] mutation changing conserved amino acid residue or even interfering the mRNA splicing. Clinical heterogeneity, diverse dynamics, and wide spectrum of symptoms are aggravating factors in the diagnosis. The possibility of treatment demands early recognition of disorder to facilitate the improvement of the patient's condition.