Glucocorticoids improve acute dizziness symptoms following acute unilateral vestibulopathy.

Acute unilateral vestibulopathy (AUV) is characterized by acute vertigo, nausea, and imbalance without neurological deficits or auditory symptomatology. Here, we explore the effect of glucocorticoid treatment on the degree of canal paresis in patients with AUV, and critically, establish its relationship with dizziness symptom recovery. We recruited consecutive patients who were retrospectively assigned to one of the two groups according to whether they received glucocorticoid treatment (n = 32) or not (n = 44). All patients underwent pure-tone audiometry, bithermal caloric testing, MRI brain imaging, and were asked to complete a dizziness handicap inventory on admission to hospital and just prior to hospital discharge. In the treatment group, the canal paresis at discharge was significantly lower than in the control group (mean ± SD % 38.04 ± 21.57 versus 82.79 ± 21.51, p < 0.001). We also observed a significant reduction in the intensity of nystagmus in patients receiving glucocorticoid treatment compared to the non-treatment group (p = 0.03). DHI test score was significantly lower at discharge in the treatment group (mean ± SD % 23.15 ± 12.40 versus 64.07 ± 12.87, p < 0.001), as was the length of hospital stay (2.18 ± 1.5 days versus 3.6 ± 1.7 days, p = 0.002). Glucocorticoid treatment leads to acute symptomatic improvement, with a reduced hospital stay and reduction in the intensity of acute nystagmus. Our findings suggest that glucocorticoids may accelerate vestibular compensation via a restoration of peripheral vestibular function, and therefore has important clinical implications for the treatment of AUV

Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's disease.

Autosomal dominant (AD) familial Meniere's disease (FMD) is a rare disorder involving the inner ear defined by sensorineural hearing loss, tinnitus and episodic vertigo. Here, we have identified two novel and rare heterozygous variants in the SEMA3D and DPT genes segregating with the complete phenotype that have variable expressivity in two pedigrees with AD-FMD. A detailed characterization of the phenotype within each family illustrates the clinical heterogeneity in the onset and progression of the disease. We also showed the expression of both genes in the human cochlea and performed in silico analyses of these variants. Three-dimensional protein modelling showed changes in the structure of the protein indicating potential physical interactions. These results confirm a genetic heterogeneity in FMD with incomplete penetrance and variable expressivity

Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere’s disease

Autosomal dominant (AD) familial Meniere's disease (FMD) is a rare disorder involving the inner ear defined by sensorineural hearing loss, tinnitus and episodic vertigo. Here, we have identified two novel and rare heterozygous variants in the SEMA3D and DPT genes segregating with the complete phenotype that have variable expressivity in two pedigrees with AD-FMD. A detailed characterization of the phenotype within each family illustrates the clinical heterogeneity in the onset and progression of the disease. We also showed the expression of both genes in the human cochlea and performed in silico analyses of these variants. Three-dimensional protein modelling showed changes in the structure of the protein indicating potential physical interactions. These results confirm a genetic heterogeneity in FMD with incomplete penetrance and variable expressivity

Management of congenital third branchial arch anomalies: a systematic review

OBJECTIVE: To systematically review the existing literature on third branchial arch anomalies and suggest guidelines for their management. DATA SOURCES: We searched PubMed, Medline, and Embase using Scopus, and collected additional publications cited in bibliographies. We included all English-language articles and all foreign-language articles with an English abstract. REVIEW METHODS: Two investigators reviewed all cases explicitly identified as third arch anomalies or meeting anatomical criteria for third arch anomalies; they assessed presentation, diagnostic methods, intervention, and outcome. RESULTS: We found 202 cases of third arch anomalies; they presented primarily on the left side (89%), usually as neck abscess (39%) or acute suppurative thyroiditis (33%). Barium swallow, direct laryngoscopy, and magnetic resonance imaging were the most useful diagnostic tools. The recurrence rate varied among the treatment options: incision and drainage, 94 percent; endoscopic cauterization of the sinus tract opening, 18 percent; open-neck surgery and tract excision, 15 percent; and partial thyroidectomy during open-neck surgery, 14 percent. Complications after surgery appeared somewhat more frequently in children eight years of age or younger. CONCLUSION: Third arch anomalies are more common than previously reported. They appear to be best treated by complete excision of the cyst, sinus, or fistula during a quiescent period. Repeated incision and drainage yields high rates of recurrence and should be avoided. Complications might be minimized by first initiating antibiotic treatment, delaying surgical treatment until the inflammatory process is maximally resolved, and by using endoscopic cauterization