Neural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation.

Focal dystonias are the most common forms of isolated dystonia; however, the etiopathophysiological signatures of disorder penetrance and clinical manifestation remain unclear. Using an imaging genetics approach, we investigated functional and structural representations of neural endophenotypes underlying the penetrance and manifestation of laryngeal dystonia in families, including 21 probands and 21 unaffected relatives, compared to 32 unrelated healthy controls. We further used a supervised machine-learning algorithm to predict the risk for dystonia development in susceptible individuals based on neural features of identified endophenotypes. We found that abnormalities in prefrontal-parietal cortex, thalamus, and caudate nucleus were commonly shared between patients and their unaffected relatives, representing an intermediate endophenotype of laryngeal dystonia. Machine learning classified 95.2% of unaffected relatives as patients rather than healthy controls, substantiating that these neural alterations represent the endophenotypic marker of dystonia penetrance, independent of its symptomatology. Additional abnormalities in premotor-parietal-temporal cortical regions, caudate nucleus, and cerebellum were present only in patients but not their unaffected relatives, likely representing a secondary endophenotype of dystonia manifestation. Based on alterations in the parietal cortex and caudate nucleus, the machine learning categorized 28.6% of unaffected relative as patients, indicating their increased lifetime risk for developing clinical manifestation of dystonia. The identified endophenotypic neural markers may be implemented for screening of at-risk individuals for dystonia development, selection of families for genetic studies of novel variants based on their risk for disease penetrance, or stratification of patients who would respond differently to a particular treatment in clinical trials.

Evaluation of the Supraglottic and Subglottic Activities Including Acoustic Assessment of the Opera-Chant Singers.

Opera and chant singers learn to effectively use aerodynamic components by breathing exercises during their education. Aerodynamic components, including subglottic air pressure and airflow, deteriorate in voice disorders. This study aimed to evaluate the changes in aerodynamic parameters and supraglottic structures of men and women with different vocal registers who are in an opera and chant education program. Vocal acoustic characteristics, aerodynamic components, and supraglottic structures were evaluated in 40 opera and chant art branch students. The majority of female students were sopranos, and the male students were baritone or tenor vocalists. The acoustic analyses revealed that the mean fundamental frequency was 152.33 Hz in the males and 218.77 Hz in the females. The estimated mean subglottal pressures were similar in females (14.99 cmH2O) and in males (14.48 cmH2O). Estimated mean airflow rates were also similar in both groups. The supraglottic structure compression analyses revealed partial anterior-posterior compressions in 2 tenors and 2 sopranos, and false vocal fold compression in 2 sopranos. Opera music is sung in high-pitched sounds. Attempts to sing high-pitched notes and frequently using register transitions overstrain the vocal structures. This intense muscular effort eventually traumatizes the vocal structures and causes supraglottic activity.

Can videolaryngoscopy be a first option in a patient with laryngeal amyloidosis? / ¿Puede la videolaringoscopia ser una primera opción en paciente con amiloidosis laríngea?

Amyloidosis is a term that involves a group of diseases characterised by deposition of extracellular monoclonal light-chain fibrillar immunoglobulin aggregates in the body, including many organs, with the larynx among them. A case is presented of a 78 year-old man who was referred to our institution for strangulated umbilical hernia treatment. He suffered from progressive hoarseness and dysphagia for 5months. He had a history of primary laryngeal amyloidosis. Awake intubation was performed successful with the King Vision® video-laryngoscopy. Sedation was achieved using a remifentanil infusion and midazolam. Haemorrhagic lesions are caused by deposition of amyloid in and around vessels, resulting in increased vascular fragility. Therefore, anaesthetists should take care in intubating the tracheas of these patients.

Laryngotomy as a treatment for chronic laryngeal obstruction in cattle: a review of 130 cases.

One hundred and thirty cattle with chronic laryngeal obstruction were treated by surgery; the diagnostic and operative techniques are discussed. A simplified technique using local anaesthesia of the laryngeal area was used in sedated calves weighing up to 200 kg. Inhalation anaesthesia through a distal tracheotomy was needed in heavier animals. Complications related to the surgical intervention are described. The animals were reviewed from five months to over one year after discharge from the clinic. The long term survival rate of the 130 animals was 58 per cent. The results after surgery were excellent in 40.9 per cent and good in 15.2 per cent of the animals.

The appendix of the ventricle of the larynx.

A review of 100 consecutive laryngograms showed visualization of the appendix of the laryngeal ventricle in 40% of cases. This high incidence of visulization is related to thorough anesthesia, repeated performance of phonation and the reverse "E" maneuver as well as awareness of the anatomical structure. The appendix of the laryngeal ventricle courses superiorly between the laryngeal vestibule and the thyroid cartilage which differentiates this normal structure from ulcerations and fistulous tracts of laryngeal tumors.