Congenital malformations of the inner ear

Summary Congenital malformations of the inner ear consist of many different anomalies of the labyrinth. They often cause hearing loss, mostly of the sensorineural type. Eighty percent of hearing loss is caused by an anomaly of the membranous labyrinth, and 20% by an anomaly of the bone labyrinth. The role in pathogenesis is played by hereditary factors and influence of the environment. The treatment depends on the severity of the hearing loss, abnormalities of the external and middle ear, associated defects, and presence and function of the auditory nerve. We have modern hearing aids or implantable systems. Another options include a sign language and mouth-reading. The article includes a retrospective analysis of patients with congenital inner ear malformations at our tertiary center in 2010–2020. In conclusion, our patients clearly prove that even children with profound hearing loss are successfully implanted and restored hearing can be achieved in most of them. Key words congenital ear malformation – inner ear – hearing loss – anomalies of bony labyrinth – anomalies of membranous labyrinth – rehabilitation

Computed Tomography elucidates ontogeny within the basal therapsid clade Biarmosuchia

Biarmosuchia is a clade of basal therapsids that includes forms possessing plesiomorphic ‘pelycosaurian’ cranial characters as well as the highly derived Burnetiamorpha which are characterised by cranial pachyostosis and a variety of cranial bosses. Potential ontogenetic variation in these structures has been suggested based on growth series of other therapsids with pachyostosed crania, which complicates burnetiamorph taxonomic distinction and thus it is essential to better understand cranial ontogeny of the Burnetiamorpha. Here, three new juvenile biarmosuchian skulls from the late Permian of South Africa are described using X-ray micro computed tomography (CT). We found that juvenile biarmosuchians are distinguished from adults by their relatively large orbits, open cranial sutures, and incomplete ossification of the braincase and bony labyrinth. Also, they manifest multiple centres of ossification within the parietal and preparietal bones. CT examination reveals that the holotype of Lemurosaurus pricei (BP/1/816), previously alleged to be a juvenile, shows no evidence of juvenility and is thus probably an adult. This suggests that the larger skull NMQR 1702, previously considered to be an adult L. pricei, may represent a new taxon. This study provides, for the first time, a list of characters by which to recognise juvenile biarmosuchians.

Cochlear Fibrocyte and Osteoblast Lineages Expressing Type 2 Deiodinase Identified with a Dio2CreERt2 Allele

Type 2 deiodinase (Dio2) amplifies levels of 3,5,3′-L-triiodothyronine (T3), the active form of thyroid hormone, and is essential for cochlear maturation and auditory development. However, cellular routes for endocrine signaling in the compartmentalized, anatomically complex cochlea are little understood. Dio2 generates T3 from thyroxine (T4), a more abundant thyroid hormone precursor in the circulation, and is dramatically induced in the cochlea before the onset of hearing. The evidence implies that specific Dio2-expressing cell types critically mediate T3 signaling but these cell types are poorly defined because Dio2 is expressed transiently at low levels. Here, using a Dio2CreERt2 knockin that activates a fluorescent reporter, we define Dio2-expressing cochlear cell types at high resolution in male or female mice. Dio2-positive cells were detected in vascularized supporting tissues but not in avascular internal epithelia, indicating segregation of T3-generating and T3-responding tissues. In the spiral ligament and spiral limbus, Dio2-positive fibrocytes clustered around vascular networks that convey T4 into cochlear tissues. In the otic capsule, Dio2-positive osteoblasts localized at cartilage surfaces as the bony labyrinth matures. We corroborated the identities of Dio2-positive lineages by RNA-sequencing of individual cells. The results suggest a previously unrecognized role for fibrocytes in mediating hormonal signaling. We discuss a model whereby fibrocytes mediate paracrine-like control of T3 signaling to the organ of Corti and epithelial target tissues.

Association Between Postoperative Vertigo and Hearing Outcomes After Stapes Surgery for Otosclerosis

Objective: During the postoperative period, most patients with otosclerosis report vertigo and/or nausea caused by interventions within the inner ear. The aim of this study was to evaluate both early and late vertigo associated with hearing improvement after stapes surgery for otosclerosis. Methods: The analysis included 170 patients admitted to the hospital undergoing their first surgery for otosclerosis. Audiological diagnostics, surgical techniques, and symptoms reported by the patients were all analyzed. Results: A statistical correlation and an unfavorable influence of late, undesired symptoms, such as vertigo, nausea/vomiting, and nystagmus, on final hearing improvement after surgical treatment of otosclerosis were found. Prostheses that were too long or placed too deep within the inner ear space were the most frequent cause of both vertigo and lack of hearing improvement observed after stapedotomy. Conclusions: A significant negative influence on bone conduction thresholds, particularly at 2000 Hz, was associated with vestibular symptoms persisting for 7 days after the surgery. Symptoms of impaired bony labyrinth function after stapedotomy, persisting for more than 1 year, were associated with insufficient reduction of the air–bone gap and worse improvement in bone conduction thresholds at 1000 and 2000 Hz. The cause of both problems was related to a prosthesis that was too long or placed too deep in the inner ear during stapedotomy.

The Supine Superior Semicircular Canal Dehiscence Test

Purpose The purpose of this clinical focus article is to describe a new method for assessment of superior semicircular canal dehiscence by laying the patient supine during Valsalva-induced nystagmus testing. Method The traditional Valsalva-induced nystagmus test is described, followed by a new method for assessment of superior semicircular dehiscence conducted by laying the patient supine during testing. A case study is presented to illustrate this new testing technique known as the Supine Superior Semicircular Canal Dehiscence Test. Results It is hypothesized that during Valsalva-induced nystagmus testing performed in the upright, seated position, the dura mater could potentially seal the superior semicircular canal fistula, thereby concealing a defect in the bony labyrinth and yielding a false-negative test. To circumvent this, the patient should be placed in the supine position during Valsalva-induced nystagmus testing in order to prevent the dura mater from inadvertently sealing itself against the petrous portion of the temporal bone. The Supine Superior Semicircular Canal Dehiscence Test may reveal the defect in the bony labyrinth and improve the sensitivity of the Valsalva-induced nystagmus test. Conclusions The Supine Superior Semicircular Canal Dehiscence Test may be more sensitive for identifying superior semicircular canal dehiscence in patients with traditional symptoms and a negative Valsalva-induced nystagmus test in the seated position. While a case study is presented to illustrate the potential benefits of including the Supine Superior Semicircular Canal Dehiscence Test in the battery of diagnostic tests, further research is needed in larger samples.