Multidimensional voice assessment after Lee Silverman Voice Therapy (LSVT®) in Parkinson's disease

Objective: To investigate the effectiveness of Lee Silvermann Voice Treatment (LSVT®) in improving prosody in patients with Parkinson's disease over medium-term follow-up. Methods: 15 patients with Parkinson's disease were assessed before LSVT®, within one week, and 3 and 6 months after treatment. Subjective and objective evaluation included: Voice Handicap Index - 10 (VHI-10), perceptual assessment by GRBAS scale and item 18 of the Unified Parkinson's Disease Rating Scale III (UPDRS III), maximum phonation time (MPT /s/) and acoustic analysis by means the Voice Range Profile (VRP) and the "Intonation Stimulability Protocol" of the Motor Speech Profile (MSP). Results: A significant increase of the mean values of Imax and rF0 was observed until 6 months post-therapy (p < 0.001), whereas Running Speech Standard Deviation (rSTD) (p = 0.004), Amplitude Variability (rVAm) (p = 0.02) and Frequency Variability (rvF0) (p = 0-01) improved significantly after 3 months, but returned to pre-therapy levels after 6 months. The score of item 18 of the UPDRS III increased significantly early post-therapy (p = 0.03), but did not maintain the improvement at 3 and 6 months. Median values of Grade (G), Asthenia (A) and mean values VHI-10 score significantly decreased at each post-therapy control (p < 0.05). Conclusions: In addition to the subjective and perceptual beneficial effect of LSVT®, we found a long-lasting increase of loudness and fundamental frequency. There was also improvement of acoustic parameters related to prosody, although it was temporary

Voice Telerehabilitation in Iatrogenic Unilateral Vocal Fold Paralysis: From Necessity to Opportunity in the COVID-19 Time

Objective: To evaluate results of telerehabilitation (TR) during the coronavirus disease 2019 pandemic for the treatment of dysphonia caused by permanent post-thyroidectomy unilateral vocal fold paralysis (UVFP). Methods: Forty subjects with post-thyroidectomy UVFP (onset <1 month) underwent TR. Videostrobolaryngoscopy, acoustic and perceptual voice analysis and patient self-assessment were carried out in person before, at the end of TR and 6 months later. Results: Twenty-five subjects spontaneously recovered full vocal fold motility at some time during follow-up, whereas 15 had a permanent UVFP at the end of the follow-up period. These subjects constituted our study group. At the early posttherapy control 10/15 subjects (66.6%) showed a complete glottal closure, while in 5/15 (33.3%) a glottal gap remained (P = 0.03). These results did not change 6 months after TR. At the late posttherapy control the maximum phonation time improved significantly (P = 0.02). Both post-therapy Voice Handicap Index scores were significantly lower than the pre-therapy ones (P = 0.04). Grade, Breathiness, and Asthenia parameters of the Grade-Roughness-Breathiness-Asthenia-Strain scale improved 6 months after TR (P < 0.05). The number of voice signals suitable for acoustic analysis increased significantly after therapy. Finally, 87% of patients were satisfied with TR. Conclusions: With careful patient selection, TR may be considered as a promising method for voice therapy in postthyroidectomy UVFP. Keywords: Telerehabilitation—Voice therapy—Thyroidectomy—Unilateral vocal fold paralysis–COVID-19–SARS-CoV-2

Oropharyngeal Dysphagia After Hospitalization for COVID-19 Disease: Our Screening Results

A high percentage of patients suffered symptoms also after recovery from the Coronavirus Disease—2019 (COVID-19) infection. It is not well clear what are the specific long-term sequelae (complications and symptoms). During the acute phase the patients may develop a multi-organ system pathology including aerodigestive tract. As the pathophysiology of COVID-19 emerges, the aim of our study was to describe the prevalence of oropharyngeal dysphagia after COVID-19 disease. From March to July 2020 we enrolled patients recovered from SARS-CoV-2 infection who had been previously hospitalized for the disease. They were screened for dysphagia by mean of the Eating Assessment Tool-10 (EAT-10). The cases with EAT-10 score > 3 were graded for the aspiration risk by applying the Gugging Swallowing Screen (GUSS) and were submitted to the Swal-QoL questionnaire. The cases with a GUSS score > 19 were subjected to FEES. 8/117 (7%) patients had positive screening result. 4/8 (50%) revealed an abnormal health related quality of life in oropharyngeal dysphagia with a mean Swal-QoL score of 69.73. The most affected domain was the “time of meals” (mean score 65) following by the “sleep” (mean score 66) and “eating desire” (mean score 72). 1/8 cases showed increased risk for aspiration and did not showed endoscopic signs of oropharyngeal dysphagia. Our results showed that the prevalence of upper dysphagia after hospitalization for SARS-CoV-2 is not anecdotal and that probably this long-lasting sequela has a psychogenic etiology

Gender-related differences in the prevalence of voice disorders and awareness of dysphonia

Objective: Considering the impact of dysphonia on public health and the increasing attention to patient-centred care, we evaluated sex-related differences in the prevalence of benign voice disorders, awareness of dysphonia and voice therapy (VT) results. Methods: One hundred and seventy-one patients, 129 females and 42 males, with functional or organic benign dysphonia underwent Voice Handicap Index (VHI), auditory-perceptual dysphonia severity scoring (GRBAS) and acoustic analysis (Jitter%, Shimmer%, NHR) before and after VT. Results: Prevalence of each voice disorder was significantly higher among females. Mean time-to-diagnosis (time elapsed until medical consultation) was not different between males and females. The refusal of therapy and VT adherence (mean number of absences and premature dropout) were similar in the two groups. Pre-VT VHI and "G" parameter were worse in women. The percentage of women with abnormal acoustic analysis was significantly higher. Post-VT VHI gain was higher in women, whereas "G" parameter improvement did not differ by sex. Conclusions: Our study showed a higher prevalence of voice disorders in females. Awareness of dysphonia was not gender related. Females started with worse voice subjective perception and acoustic analysis, but they perceived greater improvement after therapy

Long-term voice outcomes and quality of life after open partial horizontal laryngectomy type II vs. total laryngectomy: A cross-sectional study

Objectives: We aim to analyse long-term voice outcomes and quality of life (QoL) in patients undergoing open partial horizontal laryngectomy type II (OPHL type II) and to compare them to those obtained by patients undergoing total laryngectomy (TL) with voice prosthesis (VP). Design: Cross-sectional cohort study. Setting: Patients undergoing surgery for advanced laryngeal cancer, assessed during the usual follow-up consultations at the Phoniatric Unit (February 2020-December 2020). Participants: Forty-five patients were enrolled and divided into two groups: OPHL group and TL group. Main outcomes measures: Acoustic analysis, maximum phonation time, INFV0 scale, I-SECEL, UW-QoL-V4 and MDADI questionnaires were used to assess the long-term outcomes. Results: Voices of patients undergoing OPHL Type II were worse than those of laryngectomised patients with VP. Nevertheless, scores in voice and dysphagia-related QoL were comparable and scores in the social domain of QoL were higher in OPHL group. Conclusions: Open partial horizontal laryngectomy Type II allows an acceptable voice recovery and

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study

OBJECTIVE: Argininosuccinate lyase (ASL) is integral to the urea cycle, which enables nitrogen wasting and biosynthesis of arginine, a precursor of nitric oxide. Inherited ASL deficiency causes argininosuccinic aciduria, the second most common urea cycle defect and an inherited model of systemic nitric oxide deficiency. Patients present with developmental delay, epilepsy, and movement disorder. Here we aim to characterize epilepsy, a common and neurodebilitating comorbidity in argininosuccinic aciduria. METHODS: We conducted a retrospective study in seven tertiary metabolic centers in the UK, Italy, and Canada from 2020 to 2022, to assess the phenotype of epilepsy in argininosuccinic aciduria and correlate it with clinical, biochemical, radiological, and electroencephalographic data. RESULTS: Thirty-seven patients, 1-31 years of age, were included. Twenty-two patients (60%) presented with epilepsy. The median age at epilepsy onset was 24 months. Generalized tonic-clonic and focal seizures were most common in early-onset patients, whereas atypical absences were predominant in late-onset patients. Seventeen patients (77%) required antiseizure medications and six (27%) had pharmacoresistant epilepsy. Patients with epilepsy presented with a severe neurodebilitating disease with higher rates of speech delay (p = .04) and autism spectrum disorders (p = .01) and more frequent arginine supplementation (p = .01) compared to patients without epilepsy. Neonatal seizures were not associated with a higher risk of developing epilepsy. Biomarkers of ureagenesis did not differ between epileptic and non-epileptic patients. Epilepsy onset in early infancy (p = .05) and electroencephalographic background asymmetry (p = .0007) were significant predictors of partially controlled or refractory epilepsy. SIGNIFICANCE: Epilepsy in argininosuccinic aciduria is frequent, polymorphic, and associated with more frequent neurodevelopmental comorbidities. We identified prognostic factors for pharmacoresistance in epilepsy. This study does not support defective ureagenesis as prominent in the pathophysiology of epilepsy but suggests a role of central dopamine deficiency. A role of arginine in epileptogenesis was not supported and warrants further studies to assess the potential arginine neurotoxicity in argininosuccinic aciduria

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss

Hearing loss is one of the top contributors to years lived with disability and is a risk factor for dementia. Molecular evidence on the cellular origins of hearing loss in humans is growing. Here, we performed a genome-wide association meta-analysis of clinically diagnosed and self-reported hearing impairment on 723,266 individuals and identified 48 significant loci, 10 of which are novel. A large proportion of associations comprised missense variants, half of which lie within known familial hearing loss loci. We used single-cell RNA-sequencing data from mouse cochlea and brain and mapped common-variant genomic results to spindle, root, and basal cells from the stria vascularis, a structure in the cochlea necessary for normal hearing. Our findings indicate the importance of the stria vascularis in the mechanism of hearing impairment, providing future paths for developing targets for therapeutic intervention in hearing loss

Формирование эмоциональной культуры как компонента инновационной культуры студентов

Homozygosity has long been associated with rare, often devastating, Mendelian disorders1 and Darwin was one of the first to recognise that inbreeding reduces evolutionary fitness2. However, the effect of the more distant parental relatedness common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity, ROH), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power3,4. Here we use ROH to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts and find statistically significant associations between summed runs of homozygosity (SROH) and four complex traits: height, forced expiratory lung volume in 1 second (FEV1), general cognitive ability (g) and educational attainment (nominal p<1 × 10−300, 2.1 × 10−6, 2.5 × 10−10, 1.8 × 10−10). In each case increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing convincing evidence for the first time that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples5,6, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein (LDL) cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection7, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been