Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis.

Otosclerosis (OTSC) is a focal and diffuse bone disorder of the human middle ear characterized by abnormal bone growth and deposition at the stapes' footplate. This hinders the transmission of acoustic waves to the inner ear leading to subsequent conductive hearing loss. The plausible convections for the disease are genetic and environmental factors with yet an unraveled root cause. Recently, exome sequencing of European individuals with OTSC revealed rare pathogenic variants in the Serpin Peptidase Inhibitor, Clade F (SERPINF1) gene. Here, we sought to investigate the causal variants of SERPINF1 in the Indian population. The gene and protein expression was also evaluated in otosclerotic stapes to ameliorate our understanding of the potential effect of this gene in OTSC. A total of 230 OTSC patients and 230 healthy controls were genotyped by single-strand conformational polymorphism and Sanger sequencing methods. By comparing the case controls, we identified five rare variants (c.72 C > T, c.151 G > A, c.242 C > G, c.823 A > T, and c.826 T > A) only in patients. Four variants c.390 T > C (p = 0.048), c.440-39 C > T (p = 0.007), c.643 + 9 G > A (p = 0.035), and c.643 + 82 T > C (p = 0.005) were found to be significantly associated with the disease. Down-regulation of SERPINF1 transcript level in otosclerotic stapes was quantified by qRT-PCR, ddPCR and further validated by in situ hybridization. Similarly, reduced protein expression was observed by immunohistochemistry and immunofluorescence in otosclerotic stapes that corroborate with immunoblotting of patients' plasma samples. Our findings identified that SERPINF1 variants are associated with the disease. Furthermore, reduced expression of SERPINF1 in otosclerotic stapes might contribute to OTSC pathophysiology.

The impact of tympanic membrane perforations on middle ear transfer function.

PURPOSE: Injury or inflammation of the middle ear often results in the persistent tympanic membrane (TM) perforations, leading to conductive hearing loss (HL). However, in some cases the magnitude of HL exceeds that attributable by the TM perforation alone. The aim of the study is to better understand the effects of location and size of TM perforations on the sound transmission properties of the middle ear. METHODS: The middle ear transfer functions (METF) of six human temporal bones (TB) were compared before and after perforating the TM at different locations (anterior or posterior lower quadrant) and to different degrees (1 mm, » of the TM, ½ of the TM, and full ablation). The sound-induced velocity of the stapes footplate was measured using single-point laser-Doppler-vibrometry (LDV). The METF were correlated with a Finite Element (FE) model of the middle ear, in which similar alterations were simulated. RESULTS: The measured and calculated METF showed frequency and perforation size dependent losses at all perforation locations. Starting at low frequencies, the loss expanded to higher frequencies with increased perforation size. In direct comparison, posterior TM perforations affected the transmission properties to a larger degree than anterior perforations. The asymmetry of the TM causes the malleus-incus complex to rotate and results in larger deflections in the posterior TM quadrants than in the anterior TM quadrants. Simulations in the FE model with a sealed cavity show that small perforations lead to a decrease in TM rigidity and thus to an increase in oscillation amplitude of the TM mainly above 1 kHz. CONCLUSION: Size and location of TM perforations have a characteristic influence on the METF. The correlation of the experimental LDV measurements with an FE model contributes to a better understanding of the pathologic mechanisms of middle-ear diseases. If small perforations with significant HL are observed in daily clinical practice, additional middle ear pathologies should be considered. Further investigations on the loss of TM pretension due to perforations may be informative.

TORP ossiculoplasty in the presence of an intact stapes superstructure.

INTRODUCTION: In this series, we describe ossicular reconstruction using routine TORP in the presence of the stapes superstructure using a tympanic-membrane-to-footplate configuration. MATERIALS AND METHODS: This is a case series of 12 patients who underwent TORP ossiculoplasties from 1st January 2010 to 31st October 2017. Data collected included demographics, indication for surgery, status of the middle ear and pre-operative and post-operative audiometric data (including pure tone average (PTA) and air-bone gap (ABG)). RESULTS: The mean pre-operative PTA was 56.5 dB and ABG was 39.8 dB. Surgical success (ABG ≤ 20 dB) was achieved in 83.3%, with an average improvement in PTA of 24.3 dB and closure of ABG of 27.1 dB. The mean post-operative ABG was 12.7 dB. CONCLUSION: TORP ossiculoplasty with tympanic-membrane-to-footplate configuration is a feasible means of ossicular reconstruction, independent of the status or spatial arrangement of the remnant ossicles. Using this technique, it is possible to achieve a consistently good outcome for improvement in hearing and closure of ABG.

Multiple synostoses syndrome: Clinical report and retrospective analysis.

Multiple synostoses syndrome (SYNS1; OMIM# 186500) is a rare autosomal dominant disorder reported in a few cases worldwide. We report a Chinese pedigree characterized by proximal symphalangism, conductive hearing loss, and distinctive facies. We examined the genetic cause and reviewed the literature to discuss the pathogeny, treatment, and prevention of SYNS1. Audiological, ophthalmological, and radiological examinations were evaluated. Whole-exome sequencing (WES) was performed to identify mutations in the proband and her parents. Sanger sequencing was used to verify the results for the proband, parents, and grandmother. The literature on the genotype-phenotype correlation was reviewed. The patient was diagnosed with multiple synostoses syndrome clinically. WES and bioinformatic analysis revealed a novel missense mutation in the NOG gene, c.554C>G (p.Ser185Cys), cosegregated in this family. The literature review showed that the phenotype varies widely, but the typical facies, conductive hearing loss, and proximal symphalangism occurred frequently. All reported mutations are highly conserved in mammals based on conservation analysis, and there are regional hot spots for these mutations. However, no distinct genotype-phenotype correlations have been identified for mutations in NOG in different races. Regular systematic examinations and hearing aids are beneficial for this syndrome. However, the outcomes of otomicrosurgery are not encouraging owing to the regrowth of bone. This study expanded the mutation spectrum of NOG and is the first report of SYNS1 in a Chinese family. Genetic testing is recommended as part of the diagnosis of syndromic deafness. A clinical genetic evaluation is essential to guide prevention, such as preimplantation genetic diagnosis.

Predictable prosthesis length on a high-resolution CT scan before a stapedotomy.

OBJECTIVE: (1) To assess the correlation between preoperative high-resolution CT (HRCT) imaging measurement from the long process of the incus to the footplate and the length of intraoperative selected prosthesis. (2) To determine if HRCT has a predictive value of prolapsed facial nerve during stapedotomy. MATERIALS AND METHODS: We evaluated in our tertiary care center, in a retrospective case series, 94 patients undergoing primary stapedotomy. Preoperative temporal bone HRCT scans were reformatted in the plane of the stapes to measure on the same section the distance between the long process of the incus and the footplate. Measurement was performed by otolaryngology resident and neurotologist. We analyze the interobserver correlation and the mean length measured on the HRCT to the selected prosthesis size intraoperatively. RESULTS: Mean HRCT measurement of the incus long process/footplate distance assessed by the otolaryngology resident and neurotologist was 4.34 and 4.38 mm, respectively. Interobserver correlation was statistically significant [intraclass correlation coefficient (ICC) of 0.679 (p < 0.001)]. Mean selected prosthesis length intraoperatively was 4.36 mm. Correlation between the mean selected length prosthesis and the mean HRCT measurement was also statistically significant [ICC of 0.791 (p < 0.001)]. Postoperatively, a statistical improvement was shown in air conduction (p < 0.001), bone conduction (p < 0.001) and air-bone gap reduction (p < 0.001). 2 cases of facial nerve covering one-half of the oval window were identified by HRCT and confirmed intraoperatively. CONCLUSION: HRCT is a valuable tool to predict preoperatively the length of the stapedotomy prosthesis. Moreover, it might be helpful to identify a potential prolapsed facial nerve, to confirm the diagnosis of otosclerosis and to rule out other abnormalities. Ultimately, it may optimize the stapedotomy procedure planning.

[The diagnostics and surgical treatment of the patients presenting with otosclerosis in the Primorye Territory]. / Diagnostika i khirurgicheskoe lechenie patsientov s otosklerozom v Primorskom krae.

The objective of the present study was to characterize the effectiveness of the audiological and radiological diagnostic techniques as well as the results of the surgical treatment of the patients presenting with otosclerosis based at the hospital clinic of the Pacific State Medical University. The analysis included 49 surgical interventions for stapedoplasty carried out on 42 patients during the period from 2015 to 2017. The tympanic form of the disorder was diagnosed in 51.02% of the cases, the mixed form I in 16.28%, and the mixed form II in 32.7%. The excellent results within two months after surgery were obtained in 87.2% of the treated patients, the good and satisfactory results in 8.72% and 4.08% of them respectively.

A 1,470 nm diode laser in stapedotomy: Mechanical, thermal, and acoustic effects.

BACKGROUND AND OBJECTIVES: Multiple laser systems have been investigated for their use in stapes surgery in patients with otosclerosis. The diode 1,470 nm laser used in this study is an attractive laser system because it is easily transported and relatively inexpensive in use. This wavelength has relative high absorption in water. This study aimed to investigate the mechanical, thermal, and acoustic effects of the diode 1,470 nm laser on a stapes in an inner ear model. MATERIALS AND METHODS: Experiments were performed in an inner ear model including fresh frozen human stapes. High-speed imaging with frame rates up to 2,000 frames per second (f/s) was used to visualize the effects in the vestibule during fenestration of the footplate. A special high-speed color Schlieren technique was used to study thermal effects. The sound produced by perforation was recorded by a hydrophone. Single pulse settings of the diode 1,470 nm laser were 100 ms, 3 W. RESULTS: Diode 1,470 nm laser fenestration showed mechanical effects with small vapor bubbles and pressure waves pushed into the vestibule. Thermal imaging visualized an increase temperature underneath the stapes footplate. Acoustic effects were limited, but larger sounds levels were reached when vaporization bubbles arise and explode in the vestibule. CONCLUSION: The diode 1,470 nm laser highly absorbs in perilymph and is capable of forming a clear fenestration in the stapes. An overlapping laser pulse will increase the risk of vapor bubbles, pressure waves, and heating the vestibule. As long as we do not know the possible damage of these effects to the inner ear function, it seems advisable to use the laser with less potential harm. Lasers Surg. Med. 49:619-624, 2017. © 2017 Wiley Periodicals, Inc.

Totally endoscopic stapes surgery without packing: novel technique bringing most comfort to the patients.

Many difficulties might be encountered during conventional stapes surgery. However, the good exposure provided by the endoscope can facilitate this procedure. The present study addresses the effectiveness of endoscopic stapes surgery with regard to the operation time and patients' convenience and satisfaction. 19 patients underwent endoscopic stapes surgery without packing. 15 patients who experienced the microscopic stapes surgery served as the comparison group. Audiometric results and the patients' satisfaction as measured by visual analog scale in both group were compared. Audiometric results were similar in both groups. Nevertheless, the endoscopic method was accompanied by shorter operation time and more comfort for the patients. Totally endoscopic stapes surgery can be done in much shorter time without major difficulties and without need to pack ear canal after surgery. Far less dissection and incision as well as patients' more satisfaction make this technique as a good alternative to the microscopic approach to stapes surgery.

Pediatric middle ear cholesteatoma: the comparative study of congenital cholesteatoma and acquired cholesteatoma.

This study examined the differences between congenital cholesteatoma (CC) and acquired cholesteatomas (AC) in children by comparing clinical features and treatment courses. This was a retrospective study which retrospectively evaluated 127 children with middle ear cholesteatomas using medical records from January 1999 to December 2012 in the Department of Otolaryngology, Niigata University Hospital. The study comprised 69 and 58 cases of CC and AC, respectively. The main outcome measures include patient backgrounds, the opportunities for consultations, mastoid cell development, intraoperative finding of stapes, surgical procedure and number of surgeries. The average age at operation was 6.4 and 9.8 years in CC and AC, respectively. AC was more prevalent in boys. Mastoid development was better in CC than in AC. We adopted a two-stage operation in 17 cases (25 %) of CC and in 22 cases (38 %) of AC. The repeat surgery rate was 11.6 % in CC and 27.6 % in AC. Three times as many operations were required for three cases (4.3 %) of CC and 10 cases (17.2 %) of AC. The lesions in AC were more difficult to control. In the treatment of pediatric middle ear cholesteatoma, we had to keep the outcome in mind.

Comparative analysis of preoperative diagnostic values of HRCT and CBCT in patients with histologically diagnosed otosclerotic stapes footplates.

This prospective case review was performed with the aim to compare and asses the diagnostic values of cone-beam computed tomography (CBCT) and high-resolution computed tomography (HRCT) in the preoperative evaluation of otosclerosis. A total of 43 patients with histologically confirmed stapedial otosclerosis, who underwent unilateral stapedectomies were analyzed. Preoperative temporal bone CBCT and HRCT scans were performed in all cases. Both CBCT and HRCT imaging were characterized by a slice thickness of 0.4-0.625 mm and multiplanar image reconstruction. Histopathologic examination of the removed stapes footplates was performed in all cases. Findings of CBCT and HRCT were categorized according to the modified Marshall's grading system (fenestral or retrofenestral lesions). Histopathologic results were correlated with multiplanar reconstructed CBCT and HRCT scans, respectively. Negative control groups for CBCT (n = 36) and HRCT (n = 27) examinations consisted of patients, who underwent CBCT imaging due to various dental disorders or HRCT analysis due to idiopathic sudden sensorineural hearing loss. Histologically active foci of otosclerosis (n = 31, 72 %) were identified by both CBCT and HRCT in all cases with a sensitivity of 100 %. However, CBCT could not detect histologically inactive otosclerosis (n = 12, 23 %; sensitivity 0 %). In contrast, HRCT showed inactive otosclerosis with a sensitivity of 59.3 %. According to CBCT results, no retrofenestral lesions were found and the overall sensitivity for hypodense lesions was 61.37 %. In conclusion, CBCT is a robust imaging method in the detection of histologically active fenestral hypodense foci of otosclerosis with high sensitivity and radiologic specificity. In the light of these results, HRCT still remains the basic imaging method in the preoperative diagnosis of otosclerosis, since it has much greater sensitivity and specificity in the detection of retrofenestral hypodense lesions and histologically inactive otosclerotic foci in the oval window niche.

Expression of TNF-α, OPG, IL-1ß and the presence of the measles virus RNA in the stapes of the patients with otosclerosis.

Persistent measles virus infections play a crucial role in the pathomechanism of otosclerosis. The study was undertaken to investigate the role of tumor necrosis factor-α (TNF-α), interleukin 1ß (IL-1ß) and osteoprotegerin (OPG) in otosclerotic bone remodeling and to assess the relation of TNF-α, OPG and IL-1ß expression levels in otosclerotic stape footplates to the occurrence of measles virus infection. 61 patients with otosclerosis were treated surgically. Thirty-one stapes obtained from cadavers of people, who had died from a sudden cause were used as a control group. The presence of measles virus RNA and the expression levels of TNF-α, IL-1ß and OPG in otosclerotic foci were assessed using one-step RT-PCR. The presence of measles virus RNA was noted in 80.3 % of otosclerotic stapes (49 out of 61) and 9.7 % of normal tissues (3 out of 31). Transcript of TNF-α, IL-1ß and OPG was detected in 40, 46 and 18 virus-positive stapes, respectively. The transcript level of TNF-α and IL-1ß was significantly higher in otosclerotic tissues comparing to normal tissue. The OPG expression level was significantly lower in otosclerotic tissues comparing to controls. The presence of measles virus RNA in the stapes may indicate its role in the pathogenesis of otosclerosis. The presence of TNF-α and IL-1ß mRNA in the virus-positive stapes could be the result of viral antigen stimulation and may be a marker of inflammation the otosclerotic focus. The lack of OPG mRNA and the presence of TNF-α and IL-1ß mRNA in the majority of otosclerotic tissues reflect the bone remodeling process occurring in the stapes.

Fallopian canal dehiscence at pediatric cholesteatoma surgery.

The objectives of the study were to investigate the characteristics of ears with dehiscence of the fallopian canal at the time of cholesteatoma surgery and the relationship between dehiscence and age, and to consider the reasons why the fallopian canal tends to be preserved in pediatric patients. This study included 37 ears with cholesteatoma in pediatric patients (mean age 9.2 years, age range 4-14 years) and 273 ears with cholesteatoma in non-pediatric patients (mean age 45 years, age range 15-84 years). Patients were treated between January 2006 and April 2012. All patients had undergone prior tympanoplasty under general anesthesia at our institution. Facial canal dehiscence was evaluated by inspection and through palpation by blunt picking after the pathological tissues had been removed. The size of fallopian canal dehiscence was not investigated in this study. The frequency of dehiscence of the fallopian canal according to the type of cholesteatoma and coexisting pathological conditions, including destruction of the stapes, presence of a labyrinthine fistula, and dural exposure, were compared between the pediatric and non-pediatric groups. The frequency of dehiscence in cases with destruction of the stapes was also compared between the pediatric and non-pediatric groups. Dehiscence of the fallopian canal occurred in 6 of 37 ears (16.8 %) in the pediatric group and 91 of 273 ears (33.3 %) in the non-pediatric group (p < 0.05). In congenital cholesteatoma, the frequency of dehiscence was lower in the pediatric group than in the non-pediatric group (p < 0.05). However, in other types of cholesteatoma there was no statistically difference between the two types of cholesteatoma. The frequency of the destruction of the stapes was higher in the pediatric group than in the non-pediatric group (43.2 vs. 16.5 %, p < 0.001). In patients with severe destruction of the stapes, the fallopian canal was preserved more frequently in the pediatric group than in the non-pediatric group (p < 0.05). The frequency of dehiscence of the fallopian canal at the time of cholesteatoma surgery was lower in the ears of pediatric patients than in the ears of non-pediatric patients. This is probably due to the difference in types of cholesteatoma between the two groups and other unknown mechanisms.

Diagnostic value of cone-beam CT in histologically confirmed otosclerosis.

This retrospective case review was performed with the aim to asses the value of cone-beam computed tomography (CBCT) in the preoperative diagnosis of otosclerosis. A total of 32 patients with histologically confirmed stapedial otosclerosis, who underwent unilateral stapedectomies were analyzed. Preoperative temporal bone CBCT scans were performed in all cases. CBCT imaging was characterized by a slice thickness of 0.3 mm and multiplanar image reconstruction. Histopathologic examination of the removed stapes footplates was performed in all cases. Findings of CBCT were categorized according to Marshall's grading system (from grade 0 to grade 3). Histopathologic results were correlated to multiplanar reconstructed CBCT scans, respectively. Histologically active foci of otosclerosis (n = 21) were identified by CBCT in all cases with a sensitivity of 100 %. However, CBCT was unable to detect histologically inactive otosclerosis (n = 11, sensitivity = 0 %). According to CBCT scans, no retrofenestral lesions were found and all positive cases were recruited into the grade 1 group indicating solely fenestral lesions at the anterior pole of stapes footplates. In conclusion, CBCT is a reliable imaging method with considerably lower radiation dose than high-resolution CT (HRCT) in the preoperative diagnosis of otosclerosis. These results indicate that CBCT has high sensitivity and specificity in the detection of hypodense lesions due to histologically active otosclerosis.

Differences in clinical characteristics of fallopian canal dehiscence associated with pars flaccida and pars tensa cholesteatomas.

This study investigated the difference in clinical characteristics of fallopian canal dehiscence associated with pars flaccida and pars tensa cholesteatomas for the purpose of increasing the preoperative detectability of dehiscence. A total of 189 ears of patients 7-80 years of age (mean 42 years) with pars flaccida cholesteatoma and 63 ears of patients 9-84 years of age (mean 50 years) with pars tensa cholesteatoma were studied. All patients had undergone prior surgical management at our institution from January 2006 to April 2012. The incidence of fallopian canal dehiscence and its location were compared between pars flaccida and pars tensa cholesteatomas. Intraoperative findings of coexistent pathologies, including destruction of the stapes superstructure, labyrinthine fistula, and dural exposure, were compared between the dehiscence and no-dehiscence groups for the two types of cholesteatomas. The incidence of dehiscence was significantly higher in patients with pars tensa cholesteatoma (55.6 %) than in patients with pars flaccida cholesteatoma (26.5 %). Dehiscence located posterior to the cochleariform process occurred slightly more frequently in patients with pars tensa cholesteatoma than in those with pars flaccida cholesteatoma. In patients with pars flaccida cholesteatoma, labyrinthine fistulas and dural exposure were significantly more frequent in the dehiscence group than in the no-dehiscence group. Fallopian canal dehiscence is more frequent in patients with pars tensa cholesteatoma than in those with pars flaccida cholesteatoma. Especially in patients with pars flaccida cholesteatoma, paying special attention to these coexisting pathologies is important to increase preoperative detectability of dehiscence.

KTP laser stapedotomy with a self-crimping, thermal shape memory Nitinol piston: follow-up study reporting intermediate-term hearing.

The aim of this study was an evaluation of the mid-term hearing results after the implantation of a self-crimping heat memory Nitinol piston in stapes surgery. The 12-month postoperative results were compared with those at a minimum of 3 years (maximum 6.7, average 4.4 years). The medical records of all 44 patients who underwent surgery with a Nitinol piston for stapes fixation between November 2005 and January 2007 were evaluated retrospectively. The prostheses used in all cases measured either 4.5 or 4.75 × 0.6 mm. We hypothesized that the 12-month postoperative hearing results would be permanent after an average follow-up of 4.4 years. Thirty-two of the 44 consecutive patients were females and 12 were males. Their mean age was 40.4 years (range 27-69). All underwent a 12-month postoperative audiometric evaluation. 38 (30 females, 8 males, average age 45, range 28-77 years) of the 44 were available for mid-term 4.4-year (minimum 3 years, maximum 6.7 years) postoperative audiometric evaluation. The mean air-bone gap (ABG) for the frequencies 0.5, 1, 2 and 3 kHz at the 12-month postoperative follow-up was 11 dB (SD 4.1) and that after an average 4.4-year postoperative evaluation was 6.4 dB (SD 3.6). The mean decrease in ABG after 12 months was 19.5 dB, and that after the average 4.4 years was 21.3 dB. ABG closure within 10 dB was achieved in 77.2 % after 12 months and in 89.5 % after the average 4.4 years. No patient with an ABG > 20 dB was recorded after the average 4.4 years. The mean air conduction threshold at 4 kHz was examined pre and postoperatively so as to indicate any possible inner ear damage. At the 12-month follow-up, the difference between the pre and postoperative values was -2.5 dB, whereas after the average 4.4 years the difference was surprisingly +13 dB. The individual AC improvements were also demonstrated with the use of Amsterdam Hearing Evaluation Plots (AHEPs). The Nitinol prosthesis allowed excellent intraoperative handling and no postoperative complication was reported. As compared with conventional stapes prostheses, the Nitinol-based SMart prosthesis is a safe and reliable stapes prosthesis. Our mid-term audiometric evaluations revealed that the audiometric parameters demonstrated a hearing improvement between the postoperative 12-month and average 4.4-year examinations. We consider the elimination of manual crimping and the use of a "non-touch" hand-held laser technique has a positive impact on the mid-term audiometric results. Most of the previous studies presented only relatively short-term (from 6 weeks up to 6-12 months) audiometric evaluations. Complications are rare, but a longer follow-up is needed to establish the long-term stability.

[The results of the surgical treatment of otosclerosis in the elderly subjects].

The objective of the present study was to evaluate the effectiveness of the surgical treatment of otosclerosis in the subjects of advanced age. The medical histories of 19 patients aged above 65 years (20 ears) presenting with otosclerosis were available for the retrospective analysis. All of them had undergone surgical interventions (a total of 22 ones or 4.49% of the 489 operations performed between 2001 and 2012). The audiometric assessment was made at four wavelengths (0.5, 1, 2, and 4 kHz). Primary surgery (n=18) was preceded by the determination of the high air and bone conductivity thresholds (76.18 dB and 42.15 dB respectively), with the mean bone to air interval (BAI) being 33.99 dB. The surgical treatment resulted in the improvement of hearing; in 83.33% of the cases, BAI was reduced to 10 dB or below this value. It is concluded that the surgical intervention on the stirrup bone for the treatment of otosclerosis in the patients above 65 years of age is a safe and efficacious method despite marked hearing impairment in this group of patients.

Measurement of stapes footplate thickness using ultra-high-resolution computed tomography: stapes axial plane correlates better with otosclerosis than lateral semicircular canal plane.

BACKGROUND, AIMS: Stapes footplate thickness measurement using ultra-high-resolution CT has been described only in the lateral semicircular canal plane. The purpose of this study was to compare stapes footplate thickness between the lateral semicircular canal and stapes axial planes in patients with otosclerosis compared to controls. MATERIAL AND METHODS: We performed a retrospective single-center study of patients undergoing high-resolution temporal bone CT. Two radiologists measured stapes footplate thickness in both the lateral semicircular canal and stapes axial planes. RESULTS: Between February 2020 and October 2022, we collected 81 ears from 49 patients (75% of women; mean age 51.22 ± 16.6 years, 17 otosclerosis, and 64 controls). In the stapes axial plane, there was a significant anterior thickening in otosclerosis patients (Reader 1: 0.52 ± 0.12 [0.3-0.7] vs. 0.41 ± 0.08 [0.3-0.6], p = 0.001; Reader 2: 0.54 ± 0.06 [0.5-0.7] vs. 0.39 ± 0.08 [0.2-0.6], P < 0.001) compared to controls. These differences were not significant using the lateral semicircular canal plane. CONCLUSION: The stapes footplate was thickened at its AC in otosclerosis patients using only the stapes axial plane. SIGNIFICANCE: We propose to use the stapes axial plane instead of the lateral semicircular canal plane when analyzing the stapes.

Linear transmission between malleus and stapes in cases with incus necrosis.

OBJECTIVE: The outcome of cartilage interposition ossiculoplasty was assessed in cases of incus necrosis after posterior malleus repositioning in the plane of the stapes, in terms of hearing gain after ossicular reconstruction. METHODS: A retrospective observational study was conducted of 30 patients admitted to an Ain Shams University hospital from March 2021 to September 2021. All patients with ossicular disruption due to chronic suppurative otitis media and hearing loss of more than 40 dB were included in the study. Pure tone audiometry was conducted for each patient after three months, six months and one year post operation. RESULTS: The audiogram showed a post-operative air-bone gap of 20 dB or less in 83.33 per cent of patients (n = 25) at three months post-operatively and in 80 per cent of patients after six months; after one year, the results remained the same. CONCLUSION: The use of cartilage interposition after malleus posterior mobilisation represents an excellent partial ossicular replacement technique.

Otosclerosis under the magnifying glass.

Otosclerosis is a bone condition affecting the stapes bone within the otic capsule, and its exact cause is still unknown. It is characterized by a lack of proper remodeling of newly formed vascular and woven bone, leading to the development of abnormal osteons and the formation of sclerotic bone. Bilateral otosclerosis is seen in 80% of patients and 60% of otosclerosis patients have a family history of the condition. The etiology of this disease is still unknown, there are lots of theories to explain it. The histopathological (HP) studies of otosclerosis showed that osteoblasts, osteoclasts, vascular proliferation, fibroblasts, and histiocytes were observed in the stapes footplate. The onset of the symptoms occurs by the early third decade of life, usually it doesn't start later. In otosclerosis, the energy exerted by sound at the level of the tympanic membrane is reduced in the inner ear due to the fixation and rigidity of the ossicular chain, leading to hearing loss, especially for low frequencies. The primary clinical symptom of otosclerosis is conductive hearing loss but it is important to note that sensorineural hearing loss and mixed hearing loss can also occur as secondary symptoms of the condition. Another symptom present in patients with otosclerosis is tinnitus. The paper carried out a retrospective study of 70 patients diagnosed with otosclerosis in the Department of Otorhinolaryngology of Emergency City Hospital, Timisoara, Romania, between January 2021 to December 2022. Tissue fragments were processed at Service of Pathology by standard Hematoxylin-Eosin staining. The HP diagnosis was completed using Masson's trichrome staining, Giemsa histochemical staining, and immunohistochemical (IHC) reactions with anti-cluster of differentiation (CD)20, anti-CD3, anti-CD4, anti-CD8, anti-CD34, and anti-CD31 antibodies. The microscopic examination showed a chronic diffuse inflammatory infiltrate that consisted predominantly of mature T-lymphocytes, immunohistochemically positive for CD3, CD4 and CD8. There were also present rare CD20-positive B-lymphocytes. Among the lymphocytes, relatively numerous mast cells were identified, highlighted histochemically by the Giemsa staining. They had numerous purple-violet intracytoplasmic granules. In the connective tissue support, a relatively rich vascular network was identified, consisting of hyperemic capillaries, highlighted immunohistochemically with anti-CD31 and anti-CD34 antibodies. Bone tissues trabeculae showed extensive areas of fibrosis. The collagen fibers were highlighted by Masson's trichrome staining, being stained in green, blue, or bluish green.

Cellular voids in the pathogenesis of otosclerosis.

BACKGROUND: Otosclerosis is a common ear disease that causes fixation of the stapes and conductive hearing impairment. However, the pathogenesis of otosclerosis is still unknown. Otosclerosis could be associated with the unique bony environment found in the otic capsule. Normal bone remodelling is almost completely absent around the inner ear after birth allowing degenerative changes and dead osteocytes to accumulate. High levels of inner ear anti resorptive osteoprotegerin (OPG) is most likely responsible for this capsular configuration. Studies have demonstrated how osteocyte lifespan variation creates occasional clusters of dead osteocytes, so-called cellular voids, at otosclerotic predilection sites in the human otic capsule. These cellular voids have been suggested as possible starting points of otosclerosis. AIM: To describe the cellular viability in otosclerotic lesions and compare it to that of cellular voids. MATERIALS AND METHODS: The study was based on unbiased stereological quantifications in undecalcified human temporal bones with otosclerosis. RESULTS: Osteocyte viability was found to vary within the otosclerotic lesions. Furthermore, the results presented here illustrate that inactive otosclerotic lesions consist of mainly dead interstitial bone, much like cellular voids. CONCLUSIONS AND SIGNIFICANCE: Focal degeneration in the otic capsule may play an important role in the pathogenesis of otosclerosis.