Journal articles: 'Vestibular defect'

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Samuel, Orit, Avi Shupak, Ayelet Eran, and Dror Tal. "Vestibular Derangement and Motion Intolerance in VATER Association." Case Reports in Otolaryngology 2017 (2017): 1–2. http://dx.doi.org/10.1155/2017/4507323.

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VATER association is a nonrandom occurrence of congenital malformations: vertebral defects, anal atresia, tracheoesophageal fistula, renal defects, and radial bone anomalies. We report the case of a 19-year-old man with a childhood diagnosis of VATER association, who presented to the motion sickness clinic with severe seasickness. We discuss the clinical and laboratory diagnosis of vestibular pathophysiology, which was confirmed by MRI of lateral semicircular canal and vestibule dysplasia. We suggest the possibility of vestibular involvement as part of the developmental field defect associated with VATER syndrome, which hitherto has rarely been reported.

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Loomba, Rohit S., Justin T. Tretter, Timothy J. Mohun, Robert H. Anderson, Scott Kramer, and Diane E. Spicer. "Identification and Morphogenesis of Vestibular Atrial Septal Defects." Journal of Cardiovascular Development and Disease 7, no. 3 (September 10, 2020): 35. http://dx.doi.org/10.3390/jcdd7030035.

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Background: The vestibular atrial septal defect is an interatrial communication located in the antero-inferior portion of the atrial septum. Reflecting either inadequate muscularization of the vestibular spine and mesenchymal cap during development, or excessive apoptosis within the developing antero-inferior septal component, the vestibular defect represents an infrequently recognized true deficiency of the atrial septum. We reviewed necropsy specimens from three separate archives to establish the frequency of such vestibular defects and their associated cardiac findings, providing additional analysis from developing mouse hearts to illustrate their potential morphogenesis. Materials and methods: We analyzed the hearts in the Farouk S. Idriss Cardiac Registry at Ann and Robert H. Lurie Children’s Hospital in Chicago, IL, the Van Mierop Archive at the University of Florida in Gainesville, Florida, and the archive at Johns Hopkins All Children’s Heart Institute in St. Petersburg, Florida, identifying all those exhibiting a vestibular atrial septal defect, along with the associated intracardiac malformations. We then assessed potential mechanisms for the existence of such defects, based on the assessment of 450 datasets of developing mouse hearts prepared using the technique of episcopic microscopy. Results: We analyzed a total of 2100 specimens. Of these, 68 (3%) were found to have a vestibular atrial septal defect. Comparable defects were identified in 10 developing mouse embryos sacrificed at embryonic data 15.5, by which stage the antero-inferior component of the atrial septum is usually normally formed. Conclusion: The vestibular defect is a true septal defect located in the muscular antero-inferior rim of the oval fossa. Our retrospective review of autopsied hearts suggests that the defect may be more common than previously thought. Increased awareness of the location of the defect should optimize its future clinical identification. We suggest that the defect exists because of failure, during embryonic development, of union of the components that bind the leading edge of the primary atrial septum to the atrioventricular junctions, either because of inadequate muscularisation or excessive apoptosis.

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Fukuda, Toyoki, Ichiro Kashima, and Shigeki Yoshiba. "Surgical treatment of an unusual atrial septal defect: the vestibular defect." Cardiology in the Young 14, no. 2 (April 2004): 212–14. http://dx.doi.org/10.1017/s1047951104002197.

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A 14-year-old female patient underwent surgical treatment of multiple atrial septal defects associated with unroofed coronary sinus and pulmonary valvar stenosis. One of the defects was that of the superior oval fossa and the other a large ellipsoidal defect positioned inferior to the inferior rim of the oval fossa. The patient underwent primary closure of the defects with a favorable result. To the best of our knowledge, this is the first surgical experience of an unusual atrial septal defect or the vestibular defect.

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Hadrys, T., T. Braun, S. Rinkwitz-Brandt, H. H. Arnold, and E. Bober. "Nkx5-1 controls semicircular canal formation in the mouse inner ear." Development 125, no. 1 (January 1, 1998): 33–39. http://dx.doi.org/10.1242/dev.125.1.33.

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The inner ear develops from the otic vesicle, a one-cell-thick epithelium, which eventually transforms into highly complex structures including the sensory organs for balance (vestibulum) and hearing (cochlea). Several mouse inner ear mutations with hearing and balance defects have been described but for most the underlying genes have not been identified, for example, the genes controlling the development of the vestibular organs. Here, we report the inactivation of the homeobox gene, Nkx5-1, by homologous recombination in mice. This gene is expressed in vestibular structures throughout inner ear development. Mice carrying the Nkx5-1 null mutation exhibit behavioural abnormalities that resemble the typical hyperactivity and circling movements of the shaker/waltzer type mutants. The balance defect correlates with severe malformations of the vestibular organ in Nkx5-1(−/−) mutants, which fail to develop the semicircular canals. Nkx5-1 is the first ear-specific molecule identified to play a crucial role in the formation of the mammalian vestibular system.

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Pardo-Zamora, Guillermo, José Antonio Moreno-Rodríguez, and Antonio J. Ortiz-Ruíz. "Non-Incised Papilla Surgical Approach and Leukocyte Platelet-Rich Fibrin in Periodontal Reconstruction of Deep Intrabony Defects: A Case Series." International Journal of Environmental Research and Public Health 18, no. 5 (March 3, 2021): 2465. http://dx.doi.org/10.3390/ijerph18052465.

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We present the preliminary results of the treatment of teeth with a deep, non-contained periodontal residual defect, vestibular bone dehiscence, and soft tissue recession, by combining an apical non-incised papilla surgical approach (NIPSA) to the defect and leukocyte platelet-rich fibrin (L-PRF) in the vestibular aspect. Four patients (upper left first premolar, upper left central incisor, upper right central incisor and upper right lateral incisor) have been treated. At one year of follow up, all cases showed a considerable reduction in the periodontal pocket depth, a gain in clinical attachment and no bleeding on probing, as well as an improvement in the marginal soft tissue minimizing soft tissue contraction (recession and/or loss of papilla) and improving soft tissue architecture. NIPSA plus L-PRF seem to improve clinical outcomes in deep non-contained intrabony defects associated with soft tissue recession.

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Tsukada, Keita, Hisakuni Fukuoka, and Shin-ichi Usami. "Vestibular Functions of Hereditary Hearing Loss Patients with GJB2 Mutations." Audiology and Neurotology 20, no. 3 (2015): 147–52. http://dx.doi.org/10.1159/000368292.

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Objectives: Mutations in the GJB2 gene have been of particular interest as it is the most common causative gene for congenital deafness in all populations. Detailed audiological features, including genotype-phenotype correlations, have been well documented. However, in spite of abundant gene as well as protein expression in the vestibular end organs, neither vestibular symptoms nor vestibular functions have yet been elucidated. In the present study, vestibular functions were evaluated in patients diagnosed with GJB2-related deafness. Subjects and Methods: Vestibular functions were evaluated by caloric test and cervical vestibular evoked myogenic potential (cVEMP) testing in 24 patients with biallelic GJB2 mutations. Results and Discussion: Twenty-one of 23 patients (91.3%) had normal caloric responses and significantly lower cVEMP amplitudes than the control subjects. In the patients who were able to undergo vestibular testing, the mostly normal reactions to caloric testing indicated that the lateral semicircular canal was intact. However, the majority of GJB2 patients showed low cVEMP reactions, indicating a saccular defect.

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Lim, H. W., H. J. Park, J. H. Jung, and J. W. Chung. "Surgical treatment of posterior semicircular canal dehiscence syndrome caused by jugular diverticulum." Journal of Laryngology & Otology 126, no. 9 (July 17, 2012): 928–31. http://dx.doi.org/10.1017/s0022215112001570.

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AbstractObjective:We report a rare case of posterior semicircular canal dehiscence caused by a jugular diverticulum, and we describe its surgical treatment using a dehiscence resurfacing manoeuvre.Method:The clinical findings, surgical procedure and outcomes are presented.Results:A 66-year-old man presented with disequilibrium, sound-induced vertigo, a reduced ocular vestibular evoked myogenic potential threshold, and pressure-induced vertical and torsional nystagmus. Computed tomography revealed a right posterior semicircular canal dehiscence caused by a diverticulum of the jugular bulb. The defect in the posterior semicircular canal was localised and resurfaced with bone paté, temporalis muscle fascia and conchal cartilage, under direct visualisation. Post-operatively, the patient's symptoms disappeared and his ocular vestibular evoked myogenic potential threshold normalised.Conclusion:This case illustrates that posterior semicircular canal dehiscence can be surgically managed by resurfacing the defect site via a transmastoid approach.

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Bath, Andrew P., Rory M. Walsh, and Manohar L. Bance. "Presumed reduction of vestibular function in unilateral Menière's disease with aminoglycoside eardrops." Journal of Laryngology & Otology 113, no. 10 (October 1999): 916–18. http://dx.doi.org/10.1017/s002221510014558x.

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AbstractWe report the first case in the world literature of deliberate ablation of vestibular function in unilateral Meniere's disease with aminoglycoside eardrops (Garasone).These findings give conclusive proof that Garasone eardrops, and by implication, all topical aminoglycoside ear drops can be vestibulotoxic in the presence of a tympanic membrane defect. The lower concentration of gentamicin in Garasone, in comparison to the standard intratympanic preparations for chemical ablation of vestibular function, may also offer a reduction in the potential risk of cochleotoxocity.

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Saida, Hiroyuki, Shunsuke Fukuba, Takahiko Shiba, Keiji Komatsu, Takanori Iwata, and Hiroshi Nitta. "Two-stage approach for class II mandibular furcation defect with insufficient keratinized mucosa: a case report with 3 years’ follow-up." Journal of International Medical Research 49, no. 9 (September 2021): 030006052110445. http://dx.doi.org/10.1177/03000605211044595.

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Periodontal regenerative treatment is useful for intrabony defects and furcation involvement, but is difficult when there is insufficient keratinized mucosa to cover and maintain the regenerative material, particularly in the mandibular molar region. We report the case of a 27-year-old woman who underwent a two-stage surgical approach for a class II furcation defect with gingival recession and insufficient keratinized mucosal width (KMW) and vestibular depth at the mandibular left first molar. We first improved the KMW and keratinized mucosal thickness using an epithelial embossed connective tissue graft with enamel matrix derivative, and then focused on periodontal regeneration at the furcation defect using an enamel matrix derivative and a bovine-derived xenograft. Probing depth reduction, clinical attachment gain, horizontal probing depth reduction, KMW gain, and gingival recession reduction were observed 3 years postoperatively. This case report suggests that this novel staged approach may be effective for treating furcation defects with insufficient keratinized mucosa, thus providing useful insights into periodontal regeneration therapy.

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Bi, Wenya Linda, Ryan Brewster, Dennis Poe, David Vernick, Daniel J. Lee, C. Eduardo Corrales, and Ian F. Dunn. "Superior semicircular canal dehiscence syndrome." Journal of Neurosurgery 127, no. 6 (December 2017): 1268–76. http://dx.doi.org/10.3171/2016.9.jns16503.

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Superior semicircular canal dehiscence (SSCD) syndrome is an increasingly recognized cause of vestibular and/or auditory symptoms in both adults and children. These symptoms are believed to result from the presence of a pathological mobile “third window” into the labyrinth due to deficiency in the osseous shell, leading to inadvertent hydroacoustic transmissions through the cochlea and labyrinth. The most common bony defect of the superior canal is found over the arcuate eminence, with rare cases involving the posteromedial limb of the superior canal associated with the superior petrosal sinus. Operative intervention is indicated for intractable or debilitating symptoms that persist despite conservative management and vestibular sedation. Surgical repair can be accomplished by reconstruction or plugging of the bony defect or reinforcement of the round window through a variety of operative approaches. The authors review the etiology, pathophysiology, presentation, diagnosis, surgical options, and outcomes in the treatment of this entity, with a focus on potential pitfalls that may be encountered during clinical management.

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Nam, E.-C., R. Lewis, H. H. Nakajima, S. N. Merchant, and R. A. Levine. "Head rotation evoked tinnitus due to superior semicircular canal dehiscence." Journal of Laryngology & Otology 124, no. 3 (September 29, 2009): 333–35. http://dx.doi.org/10.1017/s0022215109991241.

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AbstractIntroduction:Superior semicircular canal dehiscence affects the auditory and vestibular systems due to a partial defect in the canal's bony wall. In most cases, sound- and pressure-induced vertigo are present, and are sometimes accompanied by pulse-synchronous tinnitus.Case presentation:We describe a 50-year-old man with superior semicircular canal dehiscence whose only complaints were head rotation induced tinnitus and autophony. Head rotation in the plane of the right semicircular canal with an angular velocity exceeding 600°/second repeatedly induced a ‘cricket’ sound in the patient's right ear. High resolution temporal bone computed tomography changes, and an elevated umbo velocity, supported the diagnosis of superior semicircular canal dehiscence.Conclusion:In addition to pulse-synchronous or continuous tinnitus, head rotation induced tinnitus can be the only presenting symptom of superior semicircular canal dehiscence without vestibular complaints. We suggest that, in our patient, the bony defect of the superior semicircular canal (‘third window’) might have enhanced the flow of inner ear fluid, possibly producing tinnitus.

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Constanzo, Felipe, Bernardo Correa de Almeida Teixeira, Mauricio Coelho Neto, and Ricardo Ramina. "Management of jugular bulb injury during retrosigmoid transmeatal resection of vestibular schwannoma." Neurosurgical Focus: Video 5, no. 2 (October 2021): V5. http://dx.doi.org/10.3171/2021.7.focvid2155.

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Inadvertent laceration of the jugular bulb is a potentially serious complication of the retrosigmoid transmeatal approach to vestibular schwannomas. Here, the authors present the case of a 51-year-old woman with a right Hannover T4a vestibular schwannoma and bilateral high-riding jugular bulb, which was opened during drilling of the internal auditory canal (IAC). They highlight the immediate management of this complication, technical nuances for closing the defect without occluding the jugular bulb, and modifications of the standard technique needed to continue surgical resection. The video can be found here: https://stream.cadmore.media/r10.3171/2021.7.FOCVID2155

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Pereira, Diogo, Abílio Leonardo, Delfim Duarte, and Nuno Oliveira. "Bilateral superior semicircular canal dehiscence: bilateral conductive hearing loss with subtle vestibular symptoms." BMJ Case Reports 13, no. 3 (March 2020): e233042. http://dx.doi.org/10.1136/bcr-2019-233042.

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Superior semicircular canal dehiscence is caused by a bone defect on the roof of the superior semicircular canal. The estimated prevalence when unilateral varies between 0.4% and 0.7% and is still unknown when bilateral. Patients may present with audiologic and vestibular symptoms that may vary from asymptomatic to disabling. We report a case of a 72-year-old Caucasian woman presented to otolaryngology department reporting imbalance, bilateral pulsatile tinnitus, hypoacusis while being very sensitive to certain sounds. Physical examination was unremarkable, except for the Rinne test that was negative in both sides. The patient underwent an audiometry revealing a mild bilateral conductive hearing loss. A temporal bone CT scan was performed which evidenced bilateral superior semicircular canal dehiscence. Cervical vestibular evoked myogenic potentials and electrocochleography confirmed diagnosis. Although rare, superior semicircular canal dehiscence shall be considered in conductive hearing loss with vestibular symptoms.

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Brailko, Natalia N., Iryna M. Tkachenko, Victor V. Kovalenko, Anna V. Lemeshko, Alexey G. Fenko, Ruslan V. Kozak, and Dmitry V. Kalashnikov. "INVESTIGATION OF STRESS-STRAIN STATE OF “RESTORATION & TOOTH” SYSTEM IN WEDGE-SHAPED DEFECTS BY COMPUTED MODELING METHOD." Wiadomości Lekarskie 74, no. 9 (2021): 2112–17. http://dx.doi.org/10.36740/wlek202109116.

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The aim of this research is to study the influence of size and location of wedge-shaped defects of teeth on stress and strain state of restorative material on the basis of biomechanical analysis. Materials and methods: Biomechanical analysis of the stress-strain state was performed on a jaw bone fragment with canine and premolar inclusion. Results: Tangential stress increase both in the adhesive layer and in restorative material with depth and width (medial-distal size) of restored wedge-shaped defects of teeth,. The most unfavorable loading on a tooth is a joint action of vertical and horizontal loading in lingual- vestibular or vestibular-lingual direction, depending on localization of the restored wedge-shaped defects of teeth. The formation of retention grooves in wedge-shaped defects of teeth reduces the value of the maximum tangential stress in the adhesive layer of restorative material to 25% and extends the longevity of restorations. Conclusions: The difference in maximal values of tangential stress increases in adhesive layer of restorative material with or without retention grooves with increasing depth of defect. Thus, it is advisable to form retention grooves in cases of wedge-shaped teeth defects that exceed 1.5 mm. In case of restoration of subgingival wedge-shaped defects of teeth of small height it is recommended to create one retention groove on the gingival or incisal planes of a carious cavity due to significant inconveniences, and sometimes impossibility of formation of traditionally located retention grooves.

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Frisch, Eberhard, Petra Ratka-Krüger, and Dirk Ziebolz. "Increasing the Width of Keratinized Mucosa in Maxillary Implant Areas Using a Split Palatal Bridge Flap: Surgical Technique and 1-Year Follow-Up." Journal of Oral Implantology 41, no. 5 (October 1, 2015): e195-e201. http://dx.doi.org/10.1563/aaid-joi-d-14-00025.

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Sufficient soft-tissue coverage of maxillary implant sites may be difficult to achieve, especially after bone augmentation. The use of vestibular flaps moves keratinized mucosa (KM) toward the palate and may be disadvantageous for future peri-implant tissue stability. This study describes a new split palatal bridge flap (SPBF) that achieves tension-free wound closure and increases the KM width in maxillary implant areas. We began SPBF surgery with a horizontal incision in the palatal soft tissue to create a split-thickness flap. The second incision was performed perpendicular to the first, using a bridge design, at a distance of 10 to 15 mm. The superior layer can be moved crestally and sutured to cover the soft-tissue defect. The defect width was measured using a periodontal probe. The inferior layer was left exposed, and secondary wound healing created new KM in this region. This SPBF technique was performed on 37 patients. Of these, 16 patients were included in the assessment of clinical peri-implant outcomes. All of the SPBF procedures successfully resulted in a palatal regeneration of KM through secondary wound healing (mean regeneration width, 4.51 ± 1.17 mm; range, 3–6 mm). The 1-year follow-up of 16 patients revealed a mean pocket probing depth of 3.22 ± 0.6 mm with zero cases of peri-implantitis. The vestibular KM width at the involved implants was 2.82 ± 1.07 mm (range, 1.5–6 mm). Surgery for SPBF may be a promising technique for covering soft-tissue defects and increasing KM width in maxillary implant surgery.

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Zhang, Ting-Chong. "Recto-vestibular disruption defect resulted from the malpractice in the treatment of the acquired recto-vestibular fistula in infants." World Journal of Gastroenterology 13, no. 13 (2007): 1980. http://dx.doi.org/10.3748/wjg.v13.i13.1980.

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Janjic, Bojan, Branislav Ilic, Aleksa Markovic, Bojan Gacic, Radojica Drazic, and Dusan Kosanovic. "Surgical extraction of the impacted mandibular third molar: Vestibular bone window technique." Srpski arhiv za celokupno lekarstvo, no. 00 (2021): 57. http://dx.doi.org/10.2298/sarh201228057j.

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Introduction. Surgical extraction of impacted mandibular third molar can lead to the periodontal defect on distal aspect of the mandibular second molar causing pocket formation, tooth sensitivity, food retention, postoperative infections. Different surgical techniques have been proposed to reduce periodontal complications. Case Outline. We presented five cases treated with Vestibular Bone Window Technique. Considering data from the literature review, benefits and limitations of the technique are discussed and compared to the Standard Surgical Technique. Conclusion. Vestibular Bone Window Technique might be recommended surgical procedure for the extraction of impacted mandibular third molar when bucco-distal bone wall is present preoperatively. Taking into account only five cases, future work should consider a randomized clinical trial with the larger stratified samples.

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Acampora, D., G. R. Merlo, L. Paleari, B. Zerega, M. P. Postiglione, S. Mantero, E. Bober, O. Barbieri, A. Simeone, and G. Levi. "Craniofacial, vestibular and bone defects in mice lacking the Distal-less-related gene Dlx5." Development 126, no. 17 (September 1, 1999): 3795–809. http://dx.doi.org/10.1242/dev.126.17.3795.

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The Dlx5 gene encodes a Distal-less-related DNA-binding homeobox protein first expressed during early embryonic development in anterior regions of the mouse embryo. In later developmental stages, it appears in the branchial arches, the otic and olfactory placodes and their derivatives, in restricted brain regions, in all extending appendages and in all developing bones. We have created a null allele of the mouse Dlx5 gene by replacing exons I and II with the E. coli lacZ gene. Heterozygous mice appear normal. Beta-galactosidase activity in Dlx5+/− embryos and newborn animals reproduces the known pattern of expression of the gene. Homozygous mutants die shortly after birth with a swollen abdomen. They present a complex phenotype characterised by craniofacial abnormalities affecting derivatives of the first four branchial arches, severe malformations of the vestibular organ, a delayed ossification of the roof of the skull and abnormal osteogenesis. No obvious defect was observed in the patterning of limbs and other appendages. The defects observed in Dlx5−/− mutant animals suggest multiple and independent roles of this gene in the patterning of the branchial arches, in the morphogenesis of the vestibular organ and in osteoblast differentiation.

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Tanini, Sara, and Giulia Lo Russo. "V-shaped Internal Nasal Vestibular Flap for Reconstruction of Iatrogenic Columellar Defect." Plastic and Reconstructive Surgery - Global Open 6, no. 1 (January 2018): e1604. http://dx.doi.org/10.1097/gox.0000000000001604.

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Pathak, B., BB Sitaula, PK Parajuli, and P. Suwal. "Marginal Mandibulectomy Defect Rehabilitated with Cast Partial Denture: A Case Report." Journal of Nepalese Prosthodontic Society 6, no. 2 (December 31, 2023): 92–96. http://dx.doi.org/10.3126/jnprossoc.v6i2.64711.

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The primary prosthetic objectives for marginal mandibulectomy defects are to restore mastication, speech and appearance by replacement of teeth. With marginal resection of mandible followed by reconstruction with submental flap, the major prosthesis concern is related to soft tissue potential for support due to loss of vertical ridge height, loss of vestibular depth, mobility and displaceability of the flap that frequently unseats the prosthesis. This article describes prosthetic rehabilitation with a cast partial denture for missing teeth and restoring function for a patient who had undergone wide lesion excision of verrucous carcinoma with marginal mandibulectomy.

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Sharratt, Geoffrey P., Sandra Webb, and Robert H. Anderson. "The vestibular defect: an interatrial communication due to a deficiency in the atrial septal component derived from the vestibular spine." Cardiology in the Young 13, no. 2 (April 2003): 184–90. http://dx.doi.org/10.1017/s1047951103000349.

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R, Bhargavi, and Dr Parimala. "Bridge Flap for the Treatment of Multiple Gingival Recession." IAR Journal of Medical Sciences 4, no. 1 (January 28, 2023): 13–15. http://dx.doi.org/10.47310/iarjms.2023.v04i01.002.

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Because of aesthetic concerns or root sensitivity, gingival recession in anterior teeth is frequently of concern. For aesthetic reasons, gingival recession is extremely concerning, particularly in cases when there are several anterior teeth involved. Root coverage is possible by a variety of mucogingival procedures. This case study introduces a novel bridge flap technique that enables the dentist to enlarge the zone of attached gingiva while simultaneously covering the previously exposed root surfaces. A root coverage procedure was done in this instance to address a multiple recession type defect using a coronally advanced flap and vestibular deepening approach. To widen the associated gingiva in this instance, vestibular deepening technique is employed. An aesthetically healthy periodontium, increased keratinized tissue, and positive patient acceptance are all outcomes of this procedure's predictability.

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Berrettini, Stefano, Francesca Ravecca, Francesca Forli, Mauro Massimetti, Stefano Sellari Franceschini, and Emanuele Neri. "Distal Renal Tubular Acidosis Associated with Isolated Large Vestibular Aqueduct and Sensorineural Hearing Loss." Annals of Otology, Rhinology & Laryngology 111, no. 5 (May 2002): 385–91. http://dx.doi.org/10.1177/000348940211100501.

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Distal renal tubular acidosis (dRTA) is characterized by a defect in urinary acidification with various degrees of metabolic acidosis; it can be inherited either as an autosomal dominant trait or as a recessive trait. The recessive form is associated in about one third of cases with progressive sensorineural hearing loss (SNHL). We performed a neuroradiological study in 3 consecutive unrelated pediatric patients affected with sporadic dRTA and progressive SNHL that disclosed an enlarged vestibular aqueduct (VA) and endolymphatic sac (ES) in each. The presence of an enlarged VA in our patients with dRTA and SNHL could contribute to the development, or at least the progression, of the hearing impairment. We suppose that the same molecular defect present in both the kidney and the inner ear could be the cause of dRTA and of the development of the enlarged VA and ES.

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Sousa Menezes, Ana, Daniela Ribeiro, Daniel Alves Miranda, and Sara Martins Pereira. "Perilymphatic fistula and pneumolabyrinth without temporal bone fracture: a rare entity." BMJ Case Reports 12, no. 3 (March 2019): e228457. http://dx.doi.org/10.1136/bcr-2018-228457.

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Post-traumatic pneumolabyrinth is an uncommon clinical entity, particularly in the absence of temporal bone fracture. We report the case of a patient who presented to our emergency department with a headache, sudden left hearing loss and severe dizziness which began after a traumatic brain injury 3 days earlier. On examination, the patient presented signs of left vestibulopathy, left sensorineural hearing loss and positive fistula test, normal otoscopy and without focal neurological signs. The audiometry confirmed profound left sensorineural hearing loss. Cranial CT revealed a right occipital bone fracture and left frontal subdural haematoma, without signs of temporal bone fracture. Temporal bone high-resolution CT scan revealed left pneumolabyrinth affecting the vestibule and cochlea. Exploratory tympanotomy revealed perilymphatic fistula at the location of the round window. The sealing of defect was performed using lobule fat and fibrin glue. He presented complete resolution of the vestibular complaints, though the hearing thresholds remained stable.

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Bergstrom, Rebecca A., Yun You, Lawrence C. Erway, Mary F. Lyon, and John C. Schimenti. "Deletion Mapping of the Head Tilt (het) Gene in Mice: A Vestibular Mutation Causing Specific Absence of Otoliths." Genetics 150, no. 2 (October 1, 1998): 815–22. http://dx.doi.org/10.1093/genetics/150.2.815.

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Abstract Head tilt (het) is a recessive mutation in mice causing vestibular dysfunction. Homozygotes display abnormal responses to position change and linear acceleration and cannot swim. However, they are not deaf. het was mapped to the proximal region of mouse chromosome 17, near the T locus. Here we report anatomical characterization of het mutants and high resolution mapping using a set of chromosome deletions. The defect in het mutants is limited to the utricle and saccule of the inner ear, which completely lack otoliths. The unique specificity of the het mutation provides an opportunity to better understand the development of the vestibular system. Complementation analyses with a collection of embryonic stem (ES)- and germ cell-induced deletions localized het to an interval near the centromere of chromosome 17 that was indivisible by recombination mapping. This approach demonstrates the utility of chromosome deletions as reagents for mapping and characterizing mutations, particularly in situations where recombinational mapping is inadequate.

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Kühnen, Peter, Serap Turan, Sebastian Fröhler, Tülay Güran, Saygin Abali, Heike Biebermann, Abdullah Bereket, Annette Grüters, Wei Chen, and Heiko Krude. "Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and “Apparent” Thyroid Dysgenesis." Journal of Clinical Endocrinology & Metabolism 99, no. 1 (January 1, 2014): E169—E176. http://dx.doi.org/10.1210/jc.2013-2619.

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Context: Congenital hypothyroidism, the most frequent endocrine congenital disease, can occur either based on a thyroid hormone biosynthesis defect or can predominantly be due to thyroid dysgenesis. However, a genetic cause could so far only be identified in less than 10% of patients with a thyroid dysgenesis. Objectives: Exome sequencing was used for the first time to find additional genetic defects in thyroid dysgenesis. Patients and Methods: In a consanguineous family with thyroid dysgenesis, exome sequencing was applied, and findings were further validated by Sanger sequencing in a cohort of 94 patients with thyroid dysgenesis. Results: By exome sequencing we identified a homozygous missense mutation (p.Leu597Ser) in the SLC26A4 gene of a patient with hypoplastic thyroid tissue, who was otherwise healthy. In the cohort of patients with thyroid dysgenesis, we observed a second case with a homozygous missense mutation (p.Gln413Arg) in the SLC26A4 gene, who was additionally affected by severe hearing problems. Both mutations were previously described as loss-of-function mutations in patients with Pendred syndrome and nonsyndromic enlarged vestibular aqueduct. Conclusion: We unexpectedly identified SLC26A4 mutations that were hitherto diagnosed in thyroid dyshormonogenesis patients, now for the first time in patients with structural thyroid defects. This result resembles the historic description of thyroid atrophy in patients with the so-called myxedematous form of cretinism after severe iodine deficiency. Most likely the thyroid defect of the two homozygous SLC26A4 gene mutation carriers represents a kind of secondary thyroid atrophy, rather than a primary defect of thyroid development in the sense of thyroid agenesis. Our study extends the variable clinical spectrum of patients with SLC26A4 mutations and points out the necessity to analyze the SLC26A4 gene in patients with apparent thyroid dysgenesis in addition to the known candidate genes TSHR, PAX8, NKX2.1, NKX2.5, and FOXE1.

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Das, V. K. "Pendred's syndrome with episodic vertigo, tinnitus and vomiting and normal bithermal caloric responses." Journal of Laryngology & Otology 101, no. 7 (July 1987): 721–22. http://dx.doi.org/10.1017/s0022215100102592.

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SummaryA case of early-onset bilateral sensori-neural deafness with episodic objective vertigo, tinnitus and vomiting, suggestive of Meniere's syndrome, was found to have a diffuse goitre. A Perchlorate discharge test was positive, indicating an organification defect diagnostic of Pendred's syndrome. The case was found to be euthyroid both clinically and on investigations. Tone decay was absent and recruitment was found, thus indicating a cochlear site of lesion. Bithermal caloric tests and clinical tests of vestibular function were within normal limits. X-rays, including petrous tomography, did not show any abnormalities.

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Maharjan, Anil, SP Joshi, and P. Shrestha. "Prosthetic Rehabilitation of Patient with Anterior Segmental Mandibulectomy Using Cast Partial Removable Denture: A Clinical Report." Journal of Nepalese Prosthodontic Society 2, no. 1 (December 24, 2019): 42–46. http://dx.doi.org/10.3126/jnprossoc.v2i1.26833.

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Marginal mandibulectomy involves resection of mandibular body with overlying soft tissues while maintaining inferior cortex of mandible and its continuity. It may lead to numerous problems associated with mastication, speech and deglutition and esthetics. Problems associated with such defect depend upon location and extent of surgical resection. Prosthodontic rehabilitation of such patient poses challenges because of obliterated vestibular depth, inadequate denture bearing areas for support, lesser number of remaining teeth. This article describes rehabilitation of patient who underwent anterior segmental mandibulectomy with cast partial removable denture to replace the missing teeth and maintain esthetics.

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Lopatina, N. V., R. R. Hajbullina, K. V. Danilko, O. R. Shangina, D. N. Tuhvatullina, and K. A. Kurbanova. "Development of a gum recession model in an experiment." Endodontics Today 20, no. 4 (January 19, 2023): 323–27. http://dx.doi.org/10.36377/1683-2981-2022-20-4-323-327.

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Background: The article presents experimental studies conducted on Wistar rats in the amount of 50 individuals. An artificial gum recession defect was created.Aim: to evaluate the effectiveness of creating a gum recession model in the proposed way.Material and methods: Experimental animals at the beginning of the study had an intact oral mucosa: pale pink color, without pathological changes. An experimental model of gum recession was created by excision of V-shaped periodontal tissues from the vestibular surface in the area of the lower jaw incisors of a rat, then a DispodentPak No. 000 retraction thread was applied in the area of the lower central incisors in the circular ligament of the tooth to a depth of 1.5 mm, and Vitrebond dental glass ionomer cement was applied to the vestibular surface of the neck of the tooth of the lower incisors, with at the same time, prednisone is administered intramuscularly at the rate of 12 mg / kg of animal weight on the 1st, 3rd and 5th day. For the experiment, female white rats in the amount of 50 individuals were used as a model. All animals were divided into 2 groups depending on the method of creating a gum recession defect. In the control group of rats, the defect was created according to the standard procedure by conducting a V-shaped incision.Results: When creating the proposed model of experimental gum recession, the clinical and pathomorphological picture is achieved under the influence of local factors: V-shaped gum incision, retraction thread, dental glass ionomer cement. To suppress the processes of self-regeneration of the gums, the optimal dose of prednisone is administered.Conclusions: On the 3rd day of the experiment, a V-shaped defect was observed in animals. On the 10th day, clinical signs of gum recession are determined: a defect with a depth of 2 mm. The average depth of recession in animals was (2 ± 1.7 mm). A relatively short process of modeling a gum recession (no more than a month). In this case, a local lesion of the gum is created, not burdened by any other pathology in the animal, and having both local and general (stress) pathogenetic factors, against the background of changes in the reactivity of the organism, which corresponds to the modern theory of the occurrence of recession as a polyethological disease in humans.

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Tsai-Ying Li, Tsai-Ying Li, Yu-Lin La Tsai-Ying Li, Ya-Chi Chen Yu-Lin La, Bor-Jian Chen Ya-Chi Chen, and Yi-Chun Lin Bor-Jian Chen. "Modified Coronally Advanced Tunnel (MCAT) Technique with or without Vestibular Incision for the Treatment of Multiple Gingival Recessions: A Case Series and Literature Review." Journal of Periodontics and Implant Dentistry 6, no. 2 (October 2023): 095–106. http://dx.doi.org/10.53106/261634032023100602006.

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<p>Treatment of multiple gingival recessions with periodontal plastic surgery is challenging due to several factors that needed to be considered in one surgical session. The success and stability of root-coverage outcomes depend on gingival thickness (GT), defect characteristics and anatomical limitations addressing hard and soft tissue relationships and periodontal structures. Root coverage is less predictable in the presence of interproximal attachment loss. Evidence on the treatment of multiple recession-type defects, particularly Miller Classes III and IV, is scarce. The modified coronally advanced tunnel technique (MCAT) has been report-ed to exert root-coverage effects in Miller Class III cases via partial papilla elevation. To gain surgical access in challenging anatomies, the use of additional vestibular incisions (vestibular incision subperiosteal tunnel access, [VISTA]) has been proposed. In this case report, two patients who underwent surgeries for Miller Class II-III recessions with thin phenotypes are described. After non-surgical periodontal treatment, creeping attachment of 0.5-1 mm was observed in some teeth in case 1. Both patients underwent the treatment of MCAT technique combined with connective tissue grafting, whereas only the patient in case 2 underwent VIS-TA. Complete root coverage, increased GT and aesthetic outcomes with a follow-up period of at least 5 months were achieved in multiple teeth in both cases. The report and the literature review suggested that MCAT w/wo VISTA can predict root coverage and modify phenotypes for the treatment of multiple recessions.</p> <p> </p>

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Kamal, Aya, Ahmed Abdel Meguid Moustafa, and Ahmed Abdallah Khalil. "Treatment of Gingival Recession Class II Defect using Buccal Fat Pad versus Platelet Rich Fibrin using Vestibular Incision Subperiosteal Tunnel Access Technique." Open Access Macedonian Journal of Medical Sciences 9, no. D (August 29, 2021): 126–32. http://dx.doi.org/10.3889/oamjms.2021.6536.

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ABSTRACTAim of study: The aim of this study was to Compare the effectiveness of Non-pedicled buccal fat pad versus Platelet rich fibrin in treatment of Miller class II gingival recession using vistubular Incision Subperiosteal Tunnel Access TechniquePatients and methods:This study was conducted on 40 patients with class II gingival recession in anterior or premolar segment. The entire patients were selected from the out patient clinic of the Oral Medicine, Oral Diagnosis, and Periodontology Department. Faculty of Dentistry, Minya University.Forty patients with gingival recession class II were divided randomly into two groups:Group I: (20 defect) using VISTA technique with Non- pedicled buccal fat pad (NPBFP), Group II: (20 defect) using VISTA technique with platelet rich fibrin (PRF).Results: In both groups all clinical parameters were statistically significant from pre-operative period till 6 months follow up period. In the comparison between the two groups after 6 months follow up period, there were no statistically significant difference between two groups regarding all clinical parameters except percentage of root coverage; there was significant increase in percentage of root coverage after 3 and 6 months follow up period in group II with p value was less than 0.05.Conclusion: Both PRF membrane and NPBFP are effective in the management of Class II gingival recession defects using VISTA technique. PRF group has better results regarding percentage of root coverage than NPBPF group after 3 and 6 months follow up.

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Moy, Jennifer D., Paul A. Gardner, Shaum Sridharan, and Eric W. Wang. "Radial Forearm Free Tissue Transfer to Clival Defect." Journal of Neurological Surgery Part B: Skull Base 80, S 04 (October 31, 2019): S380—S381. http://dx.doi.org/10.1055/s-0039-1700890.

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Abstract Introduction Reconstruction of craniocervical junction (CCJ) defects after endoscopic endonasal skull base surgery (ESBS) remains challenging, despite advancements in vascularized intranasal and regional flaps. Microvascular free tissue transfers have revolutionized reconstruction in open skull base surgery but have been utilized rarely in ESBS. We describe the use of a radial forearm free flap (RFFF) for reconstruction of a recalcitrant CCJ defect after resection of a clival chordoma. Case Report A 54-year-old female who underwent ESBS for a clival chordoma complicated by a C1–C2 epidural abscess after proton beam therapy presented with pneumocephalus 4 years after her resection (Fig. 1). At the CCJ, she developed a 1-cm skull-base defect. An occult cerebrospinal fluid (CSF) leak persisted despite an extracranial pericranial flap and a lateral nasal wall flap. Her definite reconstruction was a RFFF inset through a transmaxillary approach. Using a maxillary vestibular incision, anterior, lateral, and medial maxillotomies allowed the introduction of the flap into the nasal cavity and the passage of the RFFF pedicle across the posterior maxillary wall, into the premassateric space and to the facial vessels at the mandible. An endonasal inset supplemented with transoral suturing of the distal end of the flap to the posterior oropharynx halted further CSF egress. Vascularization of the flap was confirmed with intraoperative indocyanine green angiography and postoperative computed tomography (CT) angiography and magnetic resonance imaging (MRI). Conclusion A RFFF inset through a transmaxillary approach to the facial vessels has an adequate reconstructive surface and pedicle to cover the central and posterior fossa skull base after ESBS (Fig. 2).The link to the video can be found at: https://youtu.be/rQ5vJKyD5qg.

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Tsiomis, Alexandre Couto, Andréa Pacheco Batista Borges, Ana Paula Falci Daibert, Tatiana Schmitz Duarte, Emily Correna Carlo Reis, and Tatiana Borges Carvalho. "Particulate bioglass in the regeneration of alveolar bone in dogs: clinical, surgical and radiographic evaluations." Revista Ceres 58, no. 2 (April 2011): 149–54. http://dx.doi.org/10.1590/s0034-737x2011000200003.

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Bone loss, either by trauma or other diseases, generates an increasing need for substitutes of this tissue. This study evaluated Bioglass as a bone substitute in the regeneration of the alveolar bone in mandibles of dogs by clinical, surgical and radiological analysis. Twenty-eight adult dogs were randomly separated into two equal groups. In each animal, a bone defect was created on the vestibular surface of the alveolar bone between the roots of the fourth right premolar tooth. In the treated group, the defect was immediately filled with bioglass, while in the control, it remained unfilled. Clinical evaluations were performed daily for a week, as well as x-rays immediately after surgery and at 8, 14, 21, 42, 60, 90 and 120 days post-operative. Most animals in both groups showed no signs of inflammation and wound healing was similar. Radiographic examination revealed a gradual increase of radiopacity in the region of the defect in the control group. In the treated group, initial radiopacity was higher than that of adjacent bone, decreasing until 21 days after surgery. Then it gradually increased until 120 days after surgery, when the defect became undetectable. The results showed that Bioglass integrates into bone tissue, is biocompatible and reduced the period for complete bone regeneration.

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SEVBITOV, A., A. DAVIDYANTS, M. KUZNETSOVA, A. DOROFEEV, and S. MIRONOV. "ANALYSIS OF ELECTRONIC MICROSCOPY RESULTS BASED ON COMBINING THE INFILTRATION METHOD WITH DIFFERENT RESTORATION TECHNOLOGIES AND IN VITRO INVESTIGATION OF ENAMEL FOCAL DEMINERALIZATION TREATMENT AT THE DEFECT STAGE." Periódico Tchê Química 16, no. 33 (March 20, 2019): 53–59. http://dx.doi.org/10.52571/ptq.v16.n33.2019.68_periodico33_pgs_53_59.pdf.

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Currently, a large number of methods for caries prevention and treatment have been developed and implemented. However, the problems with the extension and development of this process are redoubling every year. Against this background, it is urgent to develop methods that prevent the development of this pathology. To date, long-term results of treatment of caries in the staining stage by infiltration have been obtained. This technique makes it possible to stop the development of the carious process at the spot stage by impregnating pathologically altered tissues with a methacrylate-based drug, which stabilizes the development of caries and creates conditions for the restoration of damaged areas. But the question of using Icon for the treatment of focal demineralization of enamel in the defect stage is still relevant. The purpose of this research is to study the effectiveness of enamel focal demineralization treatment based on the application of the infiltration method in combination with various restoration technologies. The research was conducted on 30 selected teeth, which were removed for various reasons and had not been previously treated endodontically. After mechanical cleaning of the tooth surface from the plaque on the vestibular surface of all samples was created artificial demineralization of enamel in the defect stage. A point defect was created on the vestibular surface of all samples within the demineralization zone using spherical boron. Then the infiltration with Icon (DMG) was carried out according to the manufacturer's instructions, and the teeth were divided into 6 groups of 5 samples each. The study revealed a dependence between the choice of filling material and the size of the prepared cavity. In cases in which the cavity is extensive, using composite materials with traditional consistency and compomers is preferable. If the cavity is small, then fluid materials (composites or compomers) can be used to restore the defect because these materials spread evenly throughout the tooth cavity due to their liquid consistency.On the experimental model, it was possible to establish the effectiveness of the combination of the infiltration method with Icon preparation and restoration with light curing filling materials.

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McNeill, Alisdair, Emanuela Iovino, Luke Mansard, Christel Vache, David Baux, Emma Bedoukian, Helen Cox, et al. "SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect." Brain 143, no. 8 (July 13, 2020): 2380–87. http://dx.doi.org/10.1093/brain/awaa176.

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Abstract The SLC12 gene family consists of SLC12A1–SLC12A9, encoding electroneutral cation-coupled chloride co-transporters. SCL12A2 has been shown to play a role in corticogenesis and therefore represents a strong candidate neurodevelopmental disorder gene. Through trio exome sequencing we identified de novo mutations in SLC12A2 in six children with neurodevelopmental disorders. All had developmental delay or intellectual disability ranging from mild to severe. Two had sensorineural deafness. We also identified SLC12A2 variants in three individuals with non-syndromic bilateral sensorineural hearing loss and vestibular areflexia. The SLC12A2 de novo mutation rate was demonstrated to be significantly elevated in the deciphering developmental disorders cohort. All tested variants were shown to reduce co-transporter function in Xenopus laevis oocytes. Analysis of SLC12A2 expression in foetal brain at 16–18 weeks post-conception revealed high expression in radial glial cells, compatible with a role in neurogenesis. Gene co-expression analysis in cells robustly expressing SLC12A2 at 16–18 weeks post-conception identified a transcriptomic programme associated with active neurogenesis. We identify SLC12A2 de novo mutations as the cause of a novel neurodevelopmental disorder and bilateral non-syndromic sensorineural hearing loss and provide further data supporting a role for this gene in human neurodevelopment.

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Robinson, J. K. "Modified nasolabial transposition flap provides vestibular lining and cover of alar defect with intact rim." Archives of Dermatology 126, no. 11 (November 1, 1990): 1425–27. http://dx.doi.org/10.1001/archderm.126.11.1425.

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Robinson, June K. "Modified Nasolabial Transposition Flap Provides Vestibular Lining and Cover of Alar Defect With Intact Rim." Archives of Dermatology 126, no. 11 (November 1, 1990): 1425. http://dx.doi.org/10.1001/archderm.1990.01670350037003.

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Wang, W., T. Van De Water, and T. Lufkin. "Inner ear and maternal reproductive defects in mice lacking the Hmx3 homeobox gene." Development 125, no. 4 (February 15, 1998): 621–34. http://dx.doi.org/10.1242/dev.125.4.621.

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The Hmx homeobox gene family is of ancient origin, being present in species as diverse as Drosophila, sea urchin and mammals. The three members of the murine Hmx family, designated Hmx1, Hmx2 and Hmx3, are expressed in tissues that suggest a common functional role in sensory organ development and pregnancy. Hmx3 is one of the earliest markers for vestibular inner ear development during embryogenesis, and is also upregulated in the myometrium of the uterus during pregnancy. Targeted disruption of the Hmx3 gene results in mice with abnormal circling behavior and severe vestibular defects owing to a depletion of sensory cells in the saccule and utricle, and a complete loss of the horizontal semicircular canal crista, as well as a fusion of the utricle and saccule endolymphatic spaces into a common utriculosaccular cavity. Both the sensory and secretory epithelium of the cochlear duct appear normal in the Hmx3 null animals. The majority of Hmx3 null females have a reproductive defect. Hmx3 null females can be fertilized and their embryos undergo normal preimplantation development, but the embryos fail to implant successfully in the Hmx3 null uterus and subsequently die. Transfer of preimplantation embryos from mutant Hmx3 uterine horns to wild-type pseudopregnant females results in successful pregnancy, indicating a failure of the Hmx3 null uterus to support normal post-implantation pregnancy. Molecular analysis revealed the perturbation of Hmx, Wnt and LIF gene expression in the Hmx3 null uterus. Interestingly, expression of both Hmx1 and Hmx2 is downregulated in the Hmx3 null uterus, suggesting a hierarchical relationship among the three Hmx genes during pregnancy.

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Shelton, Clough, William M. Luxford, Lisa L. Tonokawa, William W. M. Lo, and William F. House. "The Narrow Internal Auditory Canal in Children: A Contraindication to Cochlear Implants." Otolaryngology–Head and Neck Surgery 100, no. 3 (March 1989): 227–31. http://dx.doi.org/10.1177/019459988910000310.

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We suggest a new explanation for the lack of auditory response to electric stimulation in children with cochlear implants: The very narrow internal auditory canal, 1 to 2 mm in diameter, and the probable absence of the cochlear nerve. This defect can be seen on high-resolution computed tomographic x-ray studies and may represent aplasia of the auditory-vestibular nerve. We report on eight children with this anomaly, three of whom have received implants and failed to respond with a sensation of sound. Identification of this problem on screening x-ray films is a contraindication to cochlear Implantation for auditory stimulation.

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Furtal, Silvestina Winston, Amith Thomas, and Krishna Yerraguntla. "A Systematic Review of Vestibular Evoked Myogenic Potential in Individuals with Motion Sickness." Annals of Otology and Neurotology 5, no. 01 (March 2022): 001–6. http://dx.doi.org/10.1055/s-0043-1764173.

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AbstractThe otolith of vestibular system in the human body helps in maintaining the static balance. Travelling can cause defect in static balance that may lead to motion sickness. The evidence showing the relation between vestibular evoked myogenic potential (VEMP) that assesses otolith function and motion sickness is contrasting. The current systematic review is aimed to understand outcomes of published articles in reporting association between vestibular evoked myogenic in individuals with motion sickness. For this study, the database used is PubMed, Scopus, ProQuest, CINHAL, and Web of Science. The data is extracted from the final articles where VEMP is done on individuals with and without motion sickness. The total articles included are 125 out of which five articles used for the systematic review. In this study, motion sickness susceptibility questionnaire is used to assess individuals with and without motion sickness. The latency and amplitude of both cervical VEMP (cVEMP) and ocular (oVEMP) of individuals with and without motion sickness are normal. However, the review indicates a significant change in the interaural asymmetry ratio of both cVEMP and oVEMP results in individuals with motion sickness. This shows that there might be a variation in the functional asymmetry in the otoliths. From the review, it is clear that there might be otolith changes due to motion sickness that can have a smaller impact on the interaural asymmetry ratio in VEMP. These findings can be further applied for the diagnostic purpose in individuals with motion sickness.

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Lahlou, Ghizlene, Charlotte Calvet, Marie Giorgi, Marie-José Lecomte, and Saaid Safieddine. "Towards the Clinical Application of Gene Therapy for Genetic Inner Ear Diseases." Journal of Clinical Medicine 12, no. 3 (January 29, 2023): 1046. http://dx.doi.org/10.3390/jcm12031046.

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Hearing loss, the most common human sensory defect worldwide, is a major public health problem. About 70% of congenital forms and 25% of adult-onset forms of deafness are of genetic origin. In total, 136 deafness genes have already been identified and there are thought to be several hundred more awaiting identification. However, there is currently no cure for sensorineural deafness. In recent years, translational research studies have shown gene therapy to be effective against inherited inner ear diseases, and the application of this technology to humans is now within reach. We provide here a comprehensive and practical overview of current advances in gene therapy for inherited deafness, with and without an associated vestibular defect. We focus on the different gene therapy approaches, considering their prospects, including the viral vector used, and the delivery route. We also discuss the clinical application of the various strategies, their strengths, weaknesses, and the challenges to be overcome.

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Johnsen, T., C. Larsen, J. Friis, and F. Hougaard-Jensen. "Pendred's syndrome." Journal of Laryngology & Otology 101, no. 11 (November 1987): 1187–92. http://dx.doi.org/10.1017/s0022215100103470.

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AbstractSeventeen unrelated Danish patients with Pendred's syndrome, whose case stories have not been published previously, are presented. Acoustic and vestibular functions were examined and endocrinological screening was performed. There was a great variation in hearing ability as well as in thyroid function. Furthermore, in contrast to previous investigations, normal caloric function was demonstrated in the majority. In all patients a Mondini malformation was demonstrated. On the basis of this investigation it is concluded that: (1) the Mondini defect is part of Pendred's syndrome; (2) the inherited Mondini malformation is the underlying cause of the sensorineural hearing impairment; and (3) the hearing sensitivity varies greatly in these patients.

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Bozo, I. Y., R. V. Deev, A. Y. Drobyshev, A. A. Isaev, and I. I. Eremin. "World’s First Clinical Case of Gene-Activated Bone Substitute Application." Case Reports in Dentistry 2016 (2016): 1–6. http://dx.doi.org/10.1155/2016/8648949.

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Treatment of patients with large bone defects is a complex clinical problem. We have initiated the first clinical study of a gene-activated bone substitute composed of the collagen-hydroxyapatite scaffold and plasmid DNA encoding vascular endothelial growth factor. The first patient with two nonunions of previously reconstructed mandible was enrolled into the study. Scar tissues were excised; bone defects (5–14 mm) between the mandibular fragments and nonvascularized rib-bone autograft were filled in with the gene-activated bone substitute. No adverse events were observed during 12 months of follow-up. In 3 months, the average density of newly formed tissues within the implantation zone was 402.21 ± 84.40 and 447.68 ± 106.75 HU in the frontal and distal regions, respectively, which correlated with the density of spongy bone. Complete distal bone defect repair with vestibular and lingual cortical plates formation was observed in 6 and 12 months after surgery; thereby the posterior nonunion was successfully eliminated. However, there was partial resorption of the proximal edge of the autograft entailed to relapse of the anterior nonunion. Thus, the first clinical data on the safety and efficacy of the gene-activated bone substitute were obtained. Given a high complexity of the clinical situation the treatment, results might be considered as promising. NCT02293031.

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Lorente-Piera, Joan, Carlos Prieto-Matos, Raquel Manrique-Huarte, Octavio Garaycochea, Pablo Domínguez, and Manuel Manrique. "Otic Capsule Dehiscences Simulating Other Inner Ear Diseases: Characterization, Clinical Profile, and Follow-Up—Is Ménière’s Disease the Sole Cause of Vertigo and Fluctuating Hearing Loss?" Audiology Research 14, no. 2 (April 12, 2024): 372–85. http://dx.doi.org/10.3390/audiolres14020032.

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Introduction: We present a series of six cases whose clinical presentations exhibited audiovestibular manifestations of a third mobile window mechanism, bearing a reasonable resemblance to Ménière’s disease and otosclerosis. The occurrence of these cases in such a short period has prompted a review of the underlying causes of its development. Understanding the pathophysiology of third mobile window syndrome and considering these entities in the differential diagnosis of conditions presenting with vertigo and hearing loss with slight air-bone gaps is essential for comprehending this group of pathologies. Materials and Methods: A descriptive retrospective cohort study of six cases diagnosed at a tertiary center. All of them went through auditive and vestibular examinations before and after a therapeutic strategy was performed. Results: Out of 84 cases of dehiscences described in our center during the period from 2014 to 2024, 78 belonged to superior semicircular canal dehiscence, while 6 were other otic capsule dehiscences. Among these six patients with a mean age of 47.17 years (range: 18–73), all had some form of otic capsule dehiscence with auditory and/or vestibular repercussions, measured through hearing and vestibular tests, with abnormalities in the results in five out of six patients. Two of them were diagnosed with Ménière’s disease (MD). Another two had cochleo-vestibular hydrops without meeting the diagnostic criteria for MD. In two cases, the otic capsule dehiscence diagnosis resulted from an intraoperative complication due to a gusher phenomenon, while in one case, it was an accidental radiological finding. All responded well to the proposed treatment, whether medical or surgical, if needed. Conclusions: Otic capsule dehiscences are relatively new and unfamiliar entities that should be considered when faced with cases clinically suggestive of Ménière’s disease, with discrepancies in complementary tests or a poor response to treatment. While high-sensitivity and specificity audiovestibular tests exist, completing the study with imaging, especially petrous bone CT scans, is necessary to locate and characterize the otic capsule defect responsible for the clinical presentation.

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Johansson, Linh, Jose Luis Latorre, Margaux Liversain, Emilie Thorel, Yago Raymond, and Maria-Pau Ginebra. "Three-Dimensional Printed Patient-Specific Vestibular Augmentation: A Case Report." Journal of Clinical Medicine 13, no. 8 (April 20, 2024): 2408. http://dx.doi.org/10.3390/jcm13082408.

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Background: The anterior maxilla is challenging regarding aesthetic rehabilitation. Current bone augmentation techniques are complex and 3D-printed bioceramic bone grafts can simplify the intervention. Aim: A four-teeth defect in the anterior maxilla was reconstructed with a 3D-printed synthetic patient-specific bone graft in a staged approach for dental implant delivery. Methods: The bone graft was designed using Cone-Beam Computed Tomography (CBCT) images. The bone graft was immobilized with fixation screws. Bone augmentation was measured on CBCT images at 11 days and 8 and 13 months post-surgery. A biopsy sample was retrieved at reentry (10 months post-augmentation) and evaluated by histological and micro-computed tomography assessments. The definitive prosthesis was delivered 5 months post-reentry and the patient attended a visit 1-year post-loading. Results: A total bone width of 8 mm was achieved (3.7 mm horizontal bone gain). The reconstructed bone remained stable during the healing period and was sufficient for placing two dental implants (with an insertion torque > 35 N·cm). The fractions of new bone, bone graft, and soft tissue in the biopsy were 40.77%, 41.51%, and 17.72%, respectively. The histological assessment showed no signs of encapsulation, and mature bone was found in close contact with the graft, indicating adequate biocompatibility and suggesting osteoconductive properties of the graft. At 1-year post-loading, the soft tissues were healthy, and the dental implants were stable. Conclusions: The anterior maxilla’s horizontal ridge can be reconstructed using a synthetic patient-specific 3D-printed bone graft in a staged approach for implant placement. The dental implants were stable and successful 1-year post-loading.

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Parlea, Elvira, Madalina Georgescu, and Romeo Calarasu. "Superior canal dehiscence syndrome – case report." Romanian Journal of Neurology 11, no. 3 (September 30, 2012): 142–46. http://dx.doi.org/10.37897/rjn.2012.3.8.

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We report a case of a patient with superior semicircular canal dehiscence syndrome, a recently described condition in which vestibular imbalance and/or hearing loss results from the discontinuity of the bone overlying the superior semicircular canals. Case report. A 46-years-old women presented with autophony in the left ear and imbalance when shouting (Tullio phenomenon). Temporal bone computer tomography revealed a defect of the left superior semicircular canal caused by an enlarged superior petrosal sinus receiving drainage from a large cerebellar developmental venous anomaly. Conclusion. We review superior semicircular canal dehiscence syndrome and its management, and we discuss common aetiologies. We conclude that superior semicircular canal dehiscence syndrome may present with a solely developmental aetiology, despite presenting late in life.

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Ge, Yanjun, Danni Guo, Xiaofeng Shan, Lei Zhang, Ruifang Lu, Pan Shaoxia, and Yongsheng Zhou. "A multidisciplinary approach for the rehabilitation of a patient with chondrosarcoma: prosthetically-driven digital workflow for maxillary reconstruction and implant treatment." STOMATOLOGY EDU JOURNAL 8, no. 3 (2021): 207–15. http://dx.doi.org/10.25241/stomaeduj.2021.8(3).art.7.

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Aim To describe a comprehensive digital therapy oriented towards the final restoration for treating an oral maxillofacial defect caused by maxillary chondrosarcoma. Summary The prosthetically-driven multidisciplinary approach was applied to achieve perfectly functional-aesthetic reconstruction for a male patient with maxillary chondrosarcoma. The complete tumor resection was ensured by the design of virtual osteotomy and surgical guide plate. A reverse engineering technique was used to reconstruct the bone defect in the maxillary aesthetic area, which offered reference for a three-dimensional printing guide plate to shape and fix the free vascularized iliac bone flap. On the solid basis of previous treatment, the implant placement was performed under the guidance of the prosthetic-driven implant plate. Vestibular extension and tissue graft were performed to increase keratinized gingiva width to improve implant-supported fixed prosthesis effect. Key learning points 1. A multidisciplinary approach including maxillofacial surgery, prosthodontic and periodontal treatment can provide better esthetic and functional results for complex rehabilitation of a patient with oral maxillofacial defect. 2. Predictability of maxillary reconstruction and implant restoration can be increased with prosthetic-driven treatment plan. 3. Applying preoperative virtual design and personalized guide plate is beneficial to achieve an ideal outline of reconstructed upper jaw. 4. Obtaining comprehensive aesthetic parameters of the expected restoration is one of the key principles of upper anterior teeth rehabilitation. 5. Digital technology provides an opportunity for consistency between the primary treatment design and the final restoration outcome.

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Yap, Yan Lin, Jane Lim, Wei Chen Ong, Matthew Yeo, Hanjing Lee, and Thiam Chye Lim. "Stabilization of Mobile Mandibular Segments in Mandibular Reconstruction: Use of Spanning Reconstruction Plate." Craniomaxillofacial Trauma & Reconstruction 5, no. 3 (September 2012): 123–26. http://dx.doi.org/10.1055/s-0032-1313354.

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The fibular free flap is the gold standard for mandibular reconstruction. Accurate 3-dimensional contouring and precise alignment of the fibula is critical for reestablishing native occlusion and facial symmetry. Following segmental mandibulectomy, the remaining mandibular fragments become freely mobile. Various stabilization methods including external fixation, intermaxillary fixation, and preplating with reconstruction plate have been used. We describe a modification to the preplating technique. After wide resection of buccal squamous cell carcinoma, our patient had an 11-cm mandibular defect from the angle of the left mandible to the right midparasymphyseal region. A single 2.0-mm Unilock® (Synthes, Singapore) plate was used to span the defect. This was placed on the vestibular aspect of the superior border of the mandibular remnants before resection. Segmental mandibulectomy was then performed with the plate removed. The spanning plate was then reattached to provide rigid fixation. The fibular bone was contoured with a single osteotomy and reattached. The conventional technique involves molding of the plate at the inferior border of the mandible. This is time-consuming and not possible in patients with distorted mandibular contour. It is also difficult to fit the osteotomized fibula to the contoured plate. In comparison, the superiorly positioned spanning plate achieve rigid fixation of the mandible while leaving the defect completely free and unhampered by hardware, allowing space for planning osteotomies and easier fixation of the neomandible. Using this modified technique, we are able to recreate the original mandibular profile with ease.

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Jaafar, Farrah R. "Study on Neurotoxic effects of Digoxin different doses in mice." Kufa Journal For Veterinary Medical Sciences 8, no. 2 (December 31, 2017): 187–95. http://dx.doi.org/10.36326/kjvs/2017/v8i24108.

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The present study was designed to evaluate neurobehavioral effects of two doses of digoxin( therapeutic and double dose) in mice.Two treatment groups( T1, T2), each consist of 10 mice divided according to daily oral treatment with Digoxin representing dosing orally with 5 ,10microgram/kg respectively the third group considered as control and treated with distilled water.Neurobehavioral results showed that digioxin in T2 caused significant decrease proportional with the dose in autonomic and central nervous system activity manifested by in decrease urination frequency and fecal boluses, disturbance of vestibular system ,increase of time needed for 180° turning upward to avoid slope, and defect in degree of cognitive function of exploration , and neuromuscular compatibility with disturbance of locomotor activity( proportional with dose and period of exposure) .While T1 showed significant effect in disturbance of vestibular system ,increase of time needed for 180° turning upward to avoid slope,and righting reflex , and neuromuscular compatibility with disturbance of locomotor activity( proportional with dose and period of exposure) ,while there were no significant change in other parameters above at that period.In conclusion this study revealed that digoxin of both dose 5mcg/kg and10 mcg/kg in caused abnormal neurobehaviord effect propotinal with the dose and period of expouser even at the therapeutic dose that indicate the precaution in using such drug.

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50

Jaafar, Farrah R. "Study on Neurotoxic effects of Digoxin different doses in mice." Kufa Journal For Veterinary Medical Sciences 8, no. 2 (December 31, 2017): 187–95. http://dx.doi.org/10.36326/kjvs/2017/v8i24108.

Full text

Abstract:

The present study was designed to evaluate neurobehavioral effects of two doses of digoxin( therapeutic and double dose) in mice.Two treatment groups( T1, T2), each consist of 10 mice divided according to daily oral treatment with Digoxin representing dosing orally with 5 ,10microgram/kg respectively the third group considered as control and treated with distilled water.Neurobehavioral results showed that digioxin in T2 caused significant decrease proportional with the dose in autonomic and central nervous system activity manifested by in decrease urination frequency and fecal boluses, disturbance of vestibular system ,increase of time needed for 180° turning upward to avoid slope, and defect in degree of cognitive function of exploration , and neuromuscular compatibility with disturbance of locomotor activity( proportional with dose and period of exposure) .While T1 showed significant effect in disturbance of vestibular system ,increase of time needed for 180° turning upward to avoid slope,and righting reflex , and neuromuscular compatibility with disturbance of locomotor activity( proportional with dose and period of exposure) ,while there were no significant change in other parameters above at that period.In conclusion this study revealed that digoxin of both dose 5mcg/kg and10 mcg/kg in caused abnormal neurobehaviord effect propotinal with the dose and period of expouser even at the therapeutic dose that indicate the precaution in using such drug.

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Journal articles on the topic 'Vestibular defect'

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