Waardenburg syndrome: About seven cases

xlomafota13 shared this article with you from Inoreader Waardenburg syndrome: About seven cases Via Indian Journal of Otology Houda Mounji, Malika Benfdil, Youssef Lakhdar, Mohamed Chehbouni, Youssef Rochdi, Hassan Nouri, Abdelaziz Raji Indian Journal of Otology 2021 27(3):144-147 Background: Waardenburg syndrome (WS) is an autosomal dominant inherited genetic condition that manifests with sensorineural deafness and pigmentation defects of the skin, hair, and iris. This genetically and clinically heterogeneous disease accounts for 2% of the congenitally deaf population. Objectives: The aim of our study is to determine epidemiological and clinical characteristics of this group to improve the management, especially for the hearing impairment. Methods: Seven cases were diagnosed during the examination of children with suspected congenital deafness. Results: The age of our children ranged from 1.3 to 5 years, with a median age of 3.6 years, with female predominance; no consanguineous marriage and fetal or perinatal history have been reported; there was family history of premature greying in four cases and deafness in two cases. Two patients had WS Type 1 with a dystopia canthorum, while four cases had WS Type 2. There was one patient with Waardenburg Klein or Shah syndrome. The otoscopy was normal in all children. Evoked auditory potentials, otoacoustic emissions, and tonal audiometry were performed; they had shown a congenital, sensorineural bilateral, and profound hearing loss >100 dB in all cases. All children had received a cochlear implantation followed by speech reeducation. A genetic consultation was carried out for all our children. Conclusion: WS is a relatively common genetic cause of sensorineural hearing loss. Early diagnosis and improvement of hearing impairment are most important for psychological and intellectual development of the children with WS. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Impact of duration of residual inhibition on tinnitus masking in patients with and without hearing impairment

xlomafota13 shared this article with you from Inoreader Impact of duration of residual inhibition on tinnitus masking in patients with and without hearing impairment Via Indian Journal of Otology Indranil Chatterjee, Geeta Gore Indian Journal of Otology 2021 27(3):131-139 Introduction: Residual inhibition (RI) is described as a temporary reduction in the loudness of tinnitus as a result of stimulation from a noise. Aim: This study is aimed to determine the efficacy of durational aspects of tinnitus masking on self-reported tinnitus handicapped measures in patients with and without hearing impairment. Sample Size: Sixty participants were included and divided into two groups – Group A (mean age 44.7, standard deviation [SD] 12.02) included tinnitus participants with normal hearing and Group B (mean age 43.81, SD 12.79) included participants with hearing impairment. Methodology: Audiological evaluation was done after a detailed case history visual analog scale (VAS) and tinnitus handicapped inventory (THI) were used pre- and post-therapy to assess the severity of tinnitus. Tinnitus masking was done at the level MML + 20 dB at matched frequency of the tinnitus. Each group had three subgroups of ten participants for masking duration– 15, 20, and 30 min of RI. The therapy was terminated when the tinnitus disappeared or after 1 month (5 days a week). Statistical analysis was performed using Paired t-test, Independent t-test, and ANOVA. Results: There was a significant difference in the effect of tinnitus masking for pre- and post-data among different masking durations measured in VAS and THI irrespective of hearing status. 30-min masking duration can be used as a standardized norm for tinnitus masking. Conclusion: Thus, the study provides a structured temporal course for providing tinnitus masking. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Difficult Airway Management in a Patient With Hereditary Hemorrhagic Telangiectasia

xlomafota13 shared this article with you from Inoreader Difficult Airway Management in a Patient With Hereditary Hemorrhagic Telangiectasia Via JAMA Otolaryngology–Head & Neck Surgery Online First To the Editor In reference to the recent publication by Safi et al regarding rapid sequence induction and intubation in a patient with hereditary hemorrhagic telangiectasia (HHT), I would like to congratulate the authors on a successful outcome. Also, I would like to suggest that, rather than mask ventilation after induction of anesthesia, consideration be given to awake fiber-optic oral/nasal intubation, as directed by the preoperative assessment, to establish the airway in patients with HHT undergoing elective procedures. Rapid sequence induction and emergency tracheostomy, in that order, could then be further on in the difficult airway algorithm, if needed, as in this case. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

The Effect of Tongue-Tie Release on Speech Articulation and Intelligibility

xlomafota13 shared this article with you from Inoreader The Effect of Tongue-Tie Release on Speech Articulation and Intelligibility Via ear nose throat Ear Nose Throat J. 2021 Dec 15:1455613211064045. doi: 10.1177/01455613211064045. Online ahead of print. ABSTRACT OBJECTIVE: The relationship between ankyloglossia and speech is controversial. The objective of this study was to determine the effect of tongue-tie release on speech articulation and intelligibility. METHODS: A prospective cohort study was conducted. Pediatric patients (>2 years of age) being referred for speech concerns due to ankyloglossia were assesse d by a pediatric otolaryngologist, and speech articulation was formally assessed by a speech language pathologist using the Goldman-Fristoe Test of Articulation 2 (GFTA-2). Patients then underwent a tongue-tie release procedure in clinic. After 1 month, speech articulation was reassessed with GFTA-2. Audio-recordings of sessions were evaluated by independent reviewers to assess speech intelligibility before and after tongue-tie release. RESULTS: Twenty-five participants were included (mean age 3.7 years; 20 boys). The most common speech errors identified were phonological substitutions (80%) and gliding errors (56%). Seven children (28%) had abnormal lingual-alveolar and interdental sounds. Most speech sound errors (87.9%) were age/developmentally appropriate. GFTA-2 standard scores before and after tongue-tie release were 85.61 (SD 9.75) and 87.54 (SD 10.21), respectively, (P=.5). Mean intelligibility scores before and after tongue-tie release were 3.15 (SD .22) and 3.21 (SD .31), respectively, (P=.43). CONCLUSION: The majority of children being referred for speech concerns thought to be due to ankyloglossia had age-appropriate speech errors at presentation. Ankyloglossia was not associated with isolated tongue mobility related speech articulation errors in a consistent manner, and there was no benefit of tongue-tie release in improving speech articulation or intelligibility. PMID:34911396 | DOI:10.1177/01455613211064045 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Risk of Diabetes in Patients with Long-Standing Graves' Disease: A Longitudinal Study

xlomafota13 shared this article with you from Inoreader Risk of Diabetes in Patients with Long-Standing Graves' Disease: A Longitudinal Study Via radioactive iodine Endocrinol Metab (Seoul). 2021 Dec 16. doi: 10.3803/EnM.2021.1251. Online ahead of print. ABSTRACT BACKGROUND: The detrimental effects of excessive thyroid hormone on glucose metabolism have been widely investigated. However, the risk of diabetes in patients with long-standing hyperthyroidism, especially according to treatment modality, remains uncertain, with few longitudinal studies. METHODS: The risk of diabetes in patients with Graves' disease treated with antithyroid dru gs (ATDs) for longer than the conventional duration (≥2 years) was compared with that in age-and sex-matched controls. The risk was further compared according to subsequent treatment modalities after a 24-month course of ATD: continuation of ATD (ATD group) vs. radioactive iodine ablation (RIA) group. RESULTS: A total of 4,593 patients were included. Diabetes was diagnosed in 751 (16.3%) patients over a follow-up of 7.3 years. The hazard ratio (HR) for diabetes, after adjusting for various known risk factors, was 1.18 (95% confidence interval [CI], 1.10 to 1.28) in patients with hyperthyroidism. Among the treatment modality groups, the RIA group (n=102) had a higher risk of diabetes than the ATD group (n=4,491) with HR of 1.56 (95% CI, 1.01 to 2.42). Further, the risk of diabetes increased with an increase in the ATD treatment duration (P for trend=0.019). CONCLUSION: The risk of diabetes was significantly higher in patients with long-standing Graves' disease than in t he general population, especially in patients who underwent RIA and prolonged ATD treatment. Special attention to hyperglycemia during follow-up along with effective control of hyperthyroidism may be necessary to reduce the risk of diabetes in these patients. PMID:34915605 | DOI:10.3803/EnM.2021.1251 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.