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Movement Disorders Clinical Practice May 2024Prior studies have indicated that female individuals outnumber male individuals for certain types of dystonia. Few studies have addressed factors impacting these sex...
BACKGROUND
Prior studies have indicated that female individuals outnumber male individuals for certain types of dystonia. Few studies have addressed factors impacting these sex differences or their potential biological mechanisms.
OBJECTIVES
To evaluate factors underlying sex differences in the dystonias and explore potential mechanisms for these differences.
METHODS
Data from individuals with various types of dystonia were analyzed in relation to sex. Data came from two different sources. One source was the Dystonia Coalition database, which contains predominantly idiopathic adult-onset focal and segmental dystonias. The second source was the MDSGene database, which contains predominantly early-onset monogenic dystonias.
RESULTS
The 3222 individuals from the Dystonia Coalition included 71% female participants and 29% male participants for an overall female-to-male ratio (F:M) of 2.4. This ratio varied according to body region affected and whether dystonia was task-specific. The female predominance was age-dependent. Sex did not have a significant impact on co-existing tremor, geste antagoniste, depression or anxiety. In the 1377 individuals from the MDSGene database, female participants outnumbered male participants for some genes (GNAL, GCH1, and ANO3) but not for other genes (THAP1, TH, and TOR1A).
CONCLUSIONS
These results are in keeping with prior studies that have indicated female individuals outnumber male individuals for both adult-onset idiopathic and early onset monogenic dystonias. These results extend prior observations by revealing that sex ratios depend on the type of dystonia, age, and underlying genetics.
PubMed: 38778444
DOI: 10.1002/mdc3.14059 -
Clinical Nuclear Medicine May 2024A 52-year-old woman was evaluated for the appearance of a neck lump and dysphonia. Neck ultrasonography showed a large cystic nodule in the right thyroid lobe, confirmed...
A 52-year-old woman was evaluated for the appearance of a neck lump and dysphonia. Neck ultrasonography showed a large cystic nodule in the right thyroid lobe, confirmed by fine-needle aspiration cytology. Thyroid function and calcitonin were normal. 18F-FDG PET/TC showed moderate tracer uptake by the outer ring of the large hypodense formation. Right hemithyroidectomy was performed; since intraoperative histology showed an intracystic and invasive papillary thyroid carcinoma, a completion thyroidectomy was done. Definitive histopathology confirmed the intraoperative findings. 18F-FDG PET/CT may be a useful imaging procedure in evaluating patients with cystic thyroid nodules whenever clinical/ultrasonographic features are suspicious for malignancy.
PubMed: 38768149
DOI: 10.1097/RLU.0000000000005256 -
Parkinsonism & Related Disorders May 2024Variants in the TUBB4A gene are associated with dystonia (DYT-TUBB4A), Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) and spastic paraplegia....
BACKGROUND
Variants in the TUBB4A gene are associated with dystonia (DYT-TUBB4A), Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) and spastic paraplegia. Phenotypes intermediate to these three broad phenotypes are also observed. These are rare disorders, and data from diverse populations remains limited. We report seven Indian cases with dystonia phenotype related to TUBB4A mutation.
CASES
Among these seven patients, age at onset ranged from 5 to 48 years. Five patients had cranio-cervical onset of dystonia. One patient had prominent parkinsonism with dystonia. Patients responded well to botulinum toxin injected for laryngeal, cervical and jaw dystonia. The patient with parkinsonism responded well to levodopa, albeit with development of dyskinesias. Apart from the common p.Arg2Gly variant in three patients with DYT-TUBB4A, other variants included p.Arg262Pro, p.Arg39Cys and p.Asp245Asn.
CONCLUSIONS
We report the first collection of cases with TUBB4A mutation from India. We expand the phenotype to include levodopa-responsive parkinsonism. Indian patients, consistent with global literature, harbor prominent adductor dysphonia, cervical and jaw dystonia, which responds well to botulinum treatment.
PubMed: 38762926
DOI: 10.1016/j.parkreldis.2024.107012 -
Journal of Voice : Official Journal of... May 2024To evaluate whether the acoustic measure of cepstral peak prominence changes during typical development in children 2-7.
OBJECTIVES
To evaluate whether the acoustic measure of cepstral peak prominence changes during typical development in children 2-7.
METHODS
Data were retrospectively analyzed from the Arizona Child Acoustic Database Repository in this longitudinal cohort study. The Repository contains longitudinal data recordings from 63 total children between 2 and 7 years of age. Thirty-one children met the inclusion criteria for the current analysis (at least five time points of usable speech data, no history of speech or language difficulties, no significant dysphonia, and were monolingual speakers of American English). Cepstral peak prominence measures were calculated in Praat for each child, at each timepoint. Additional acoustic measures of vocal fundamental frequency, vocal intensity, and stimuli length were also calculated. These measures were chosen as previous work has shown they may impact cepstral peak prominence values.
RESULTS
Linear mixed-effects regression models examined the relationship between cepstral peak prominence and age, after controlling for vocal fundamental frequency, vocal intensity, and stimuli length. Within-participant effects of age were found, indicating a trajectory change in which cepstral peak prominence increases with age in this population. This positive relationship between a cepstral peak prominence and age was nonlinear, with a steeper slope between age and cepstral peak prominence after 5 years of age.
CONCLUSIONS
This is the first study to examine the typical developmental trajectory of cepstral peak prominence children between 2 and 7 years, a critical period of vocal development. Cepstral peak prominence increased with age, suggesting an increase in periodicity of vocal fold vibration that coincides with the significant vocal fold structural changes occurring during this time. Outcomes present important normative information on vocal development, essential for effectively understanding the difference between what vocal changes are part of normative development and what changes indicate a voice disorder.
PubMed: 38760251
DOI: 10.1016/j.jvoice.2024.04.019 -
Journal of Speech, Language, and... Jun 2024Literature suggests a dependency of the acoustic metrics, smoothed cepstral peak prominence (CPPS) and harmonics-to-noise ratio (HNR), on human voice loudness and...
PURPOSE
Literature suggests a dependency of the acoustic metrics, smoothed cepstral peak prominence (CPPS) and harmonics-to-noise ratio (HNR), on human voice loudness and fundamental frequency (0). Even though this has been explained with different oscillatory patterns of the vocal folds, so far, it has not been specifically investigated. In the present work, the influence of three elicitation levels, calibrated sound pressure level (SPL), 0 and vowel on the electroglottographic (EGG) and time-differentiated EGG (dEGG) metrics hybrid open quotient (OQ), dEGG OQ and peak dEGG, as well as on the acoustic metrics CPPS and HNR, was examined, and their suitability for voice assessment was evaluated.
METHOD
In a retrospective study, 29 women with a mean age of 25 years (± 8.9, range: 18-53) diagnosed with structural vocal fold pathologies were examined before and after voice therapy or phonosurgery. Both acoustic and EGG signals were recorded simultaneously during the phonation of the sustained vowels /ɑ/, /i/, and /u/ at three elicited levels of loudness (soft/comfortable/loud) and unconstrained 0 conditions.
RESULTS
A linear mixed-model analysis showed a significant effect of elicitation effort levels on peak dEGG, HNR, and CPPS (all < .01). Calibrated SPL significantly influenced HNR and CPPS (both < .01). Furthermore, 0 had a significant effect on peak dEGG and CPPS ( < .0001). All metrics showed significant changes with regard to vowel (all < .05). However, the treatment had no effect on the examined metrics, regardless of the treatment type (surgery vs. voice therapy).
CONCLUSIONS
The value of the investigated metrics for voice assessment purposes when sampled without sufficient control of SPL and 0 is limited, in that they are significantly influenced by the phonatory context, be it speech or elicited sustained vowels. Future studies should explore the diagnostic value of new data collation approaches such as voice mapping, which take SPL and 0 effects into account.
Topics: Humans; Female; Adult; Dysphonia; Retrospective Studies; Speech Acoustics; Young Adult; Middle Aged; Adolescent; Voice Quality; Electrodiagnosis; Glottis; Phonation; Vocal Cords; Voice Training; Speech Production Measurement
PubMed: 38758676
DOI: 10.1044/2024_JSLHR-23-00253 -
Prospective Outcomes of Microlaryngoscopy Versus Office Laser Photoangiolysis for Vocal Fold Polyps.The Laryngoscope May 2024The objective of this study is to compare treatment outcomes for vocal fold polyps (VFPs) between operating room microlaryngoscopy and office-based photoangiolysis with...
OBJECTIVE(S)
The objective of this study is to compare treatment outcomes for vocal fold polyps (VFPs) between operating room microlaryngoscopy and office-based photoangiolysis with the potassium titanyl phosphate (KTP) laser.
METHODS
Prospective nonrandomized cohort study of patients with VFPs undergoing microlaryngoscopy ("OR group") or KTP laser photoangiolysis ("KTP group"). Voice outcomes (patient-reported outcome measures [Voice Handicap Index-10 (VHI-10) and Singing VHI-10 (SVHI-10)], auditory-perceptual measures [Consensus Auditory-Perceptual Evaluation of Voice (CAPE-V)], videostroboscopic characteristics [Voice-Vibratory Assessment of Laryngeal Imaging (VALI)], and acoustic and aerodynamic measures) were performed at baseline and regular intervals after intervention.
RESULTS
Forty-four subjects (17 OR group, 27 KTP group) with VFPs were enrolled. Mean VHI-10 significantly improved from baseline to each follow-up interval in both groups, except for the 1-2-week interval in the OR group. Mean SVHI-10 improved for both groups at some intervals. Growth curve models and time-to-event analyses for patient-reported outcomes did not differ between groups. There were significant improvements in all categories of auditory-perceptual voice quality and some categories of videostroboscopic characteristics in both groups. No significant trends were identified in acoustic and aerodynamic measures. Improvements in most outcomes did not significantly differ between groups or based on polyp size. There were no major complications.
CONCLUSIONS
Significant improvements in patient-reported voice outcomes measures, auditory-perceptual voice evaluation, and videostroboscopic characteristics occur following surgical treatment of vocal fold polyps with either microlaryngoscopy or office-based KTP laser. Long-term voice outcomes do not significantly differ between treatment modalities.
LEVEL OF EVIDENCE
Level 3 Laryngoscope, 2024.
PubMed: 38742623
DOI: 10.1002/lary.31484 -
The Laryngoscope May 2024To report a series of two cases of unusual airway complications with immunotherapy.
OBJECTIVE
To report a series of two cases of unusual airway complications with immunotherapy.
METHOD
Case series and review of literature.
RESULTS
We report two cases of significant supraglottitis in patients treated with immunotherapy. The first patient is a 62-year-old male receiving treatment for a stage 4 melanoma with Nivolumab and Relatlimab. He presented in Otolaryngology clinic for subacute dysphonia and dysphagia. Flexible laryngoscopy showed significant airway edema, mucopurulent secretions, and inflammation. He was admitted inpatient and treated with high dose systemic steroids and intravenous antibiotics. Daily airway examination with flexible laryngoscopy showed improvement with this medical management. The patient was discharged with antibiotics and a steroid taper. Treatment with immunotherapy was held due to this severe and potentially life-threatening complication. The second patient is a 76-year-old male with bladder cancer treated with Pembrolizumab. Four months after beginning treatment, he experienced hoarseness and throat discomfort. His laryngoscopic examination showed diffuse supraglottic swelling. He was treated inpatient with high dose systemic steroids, intravenous antibiotics, and antifungals, which resulted in improvement of supraglottic swelling. He remained on his immunotherapy treatment. Repeat examination demonstrated persistent supraglottic swelling without airway obstruction. Regarding airway-related complications with immunotherapy, the literature reports three other cases of tracheitis related to immune checkpoint inhibitors.
CONCLUSION
This is the first case series of supraglottitis in patients treated with immune checkpoint inhibitors. This adds to the emerging literature of the potential respiratory implications of these medications. Laryngoscope, 2024.
PubMed: 38742617
DOI: 10.1002/lary.31492 -
Otolaryngology--head and Neck Surgery :... May 2024Survey the current literature on artificial intelligence (AI) applications for detecting and classifying vocal pathology using voice recordings, and identify challenges... (Review)
Review
OBJECTIVE
Survey the current literature on artificial intelligence (AI) applications for detecting and classifying vocal pathology using voice recordings, and identify challenges and opportunities for advancing the field forward.
DATA SOURCES
PubMed, EMBASE, CINAHL, and Scopus databases.
REVIEW METHODS
A comprehensive literature search was performed following the Preferred Reporting Items for Systematic Reviews and Meta-analyses Extension for Scoping Reviews guidelines. Peer-reviewed journal articles in the English language were included if they used an AI approach to detect or classify pathological voices using voice recordings from patients diagnosed with vocal pathologies.
RESULTS
Eighty-two studies were included in the review between the years 2000 and 2023, with an increase in publication rate from one study per year in 2012 to 10 per year in 2022. Seventy-two studies (88%) were aimed at detecting the presence of voice pathology, 24 (29%) at classifying the type of voice pathology present, and 4 (5%) at assessing pathological voice using the Grade, Roughness, Breathiness, Asthenia, and Strain scale. Thirty-six databases were used to collect and analyze speech samples. Fourteen articles (17%) did not provide information about their AI model validation methodology. Zero studies moved beyond the preclinical and offline AI model development stages. Zero studies specified following a reporting guideline for AI research.
CONCLUSION
There is rising interest in the potential of AI technology to aid the detection and classification of voice pathology. Three challenges-and areas of opportunities-for advancing this research are heterogeneity of databases, lack of clinical validation studies, and inconsistent reporting.
PubMed: 38738887
DOI: 10.1002/ohn.809 -
Cranio : the Journal of... May 2024This study assessed the voice quality in TMD patients compared to healthy individuals using the Dysphonia Severity Index (DSI) and evaluated the correlation between the...
OBJECTIVES
This study assessed the voice quality in TMD patients compared to healthy individuals using the Dysphonia Severity Index (DSI) and evaluated the correlation between the DSI and TMD severity.
METHODS
Patients who had TMD with Fonseca's anamnestic index were subjected to an examination based on the Diagnostic Criteria for Temporomandibular Disorders (DC/TMD). A sample of 35 patients with TMD and 36 healthy subjects were included in the study.
RESULTS
There were significant differences in the DSI score and its components between healthy subjects and TMD patients ( < .001). A significant correlation was found between the DSI scores and TMD severity (Spearman's rho: -0.90, < .001).
CONCLUSION
Patients with TMD demonstrated lower DSI scores and lower voice quality compared to healthy subjects.
PubMed: 38738830
DOI: 10.1080/08869634.2024.2350922 -
The Laryngoscope May 2024A variety of surgical treatment options exist for adductor spasmodic dysphonia (ADSD) with selective adductor recurrent laryngeal nerve denervation and reinnervation...
A variety of surgical treatment options exist for adductor spasmodic dysphonia (ADSD) with selective adductor recurrent laryngeal nerve denervation and reinnervation (SLAD-R) being one of the more popular. We present a case of bilateral vocal fold paralysis (BVFP) for SLAD-R resulting in the need for total laryngectomy. We suggest BVFP is more common than reported and that we all must insure optimal long term follow up of our surgical patients. Laryngoscope, 2024.
PubMed: 38738808
DOI: 10.1002/lary.31510