The article presents a clinical case involving a patient with presumptive coexistence of two hereditary disorders, confirmed by molecular genetic analyses. Clinical evaluation of the proband, a 9-year-old girl, revealed features characteristic of Kabuki syndrome, including a typical “Kabuki makeup” facial phenotype, short stature, intracranial hypertension, and diffuse muscular hypotonia. Additional clinical findings included chronic right-sided otitis media, conjunctivitis, recurrent pneumonia, bilateral conductive hearing loss, astigmatism, and primary adenitis. Clinical assessment and molecular genetic testing were performed. High-throughput sequencing identified a previously reported pathogenic heterozygous variant in the KMT2D gene, NM_003482.4:c.15142C>T p.Arg5048Cys, and two known heterozygous variants in the CFTR gene: NM_000492.4:c.1521_1523delCTT p.Phe508del and c.3454G>C p.Asp1152His, classified as pathogenic and of variable clinical significance, respectively. Segregation analysis demonstrated that the KMT2D variant most likely arose in the proband de novo, whereas the CFTR variants were inherited from each of the parents. Notably, the proband’s clinically unaffected elder sister carried the same CFTR genotype. Based on the clinical presentation and molecular genetic findings, the diagnosis of Kabuki syndrome type 1 was conclusively established in the patient. Functional assessment of CFTR demonstrated its preserved function, which did not support a diagnosis of CF or CFTR-related disorders.

Jacob's syndrome, or XYY syndrome, is caused by the presence of an extra Y chromosome in each male human cell. Although this extra Y chromosome makes these people taller than the average, they do not show any other unusual physical characteristics. Until now, very few studies have specifically examined the hearing abnormalities of individuals with this syndrome. A four-year-old boy with Jacob's syndrome was referred for an auditory assessment due to speech delay. The test battery results revealed a conductive hearing loss bilaterally based on existing air-bone gaps in pure-tone audiometry, absence of distortion product otoacoustic emissions, and stapedial reflexes. Furthermore, the auditory brainstem responses confirmed a conductive hearing loss, as the interwave interval between waves one, three, and five was normal. Still, the absolute latency of all waves was delayed. These results were consistent with the CT (Computed Tomography) scan images demonstrating stapes footplate fixation. The audiological and imaging findings were supportive of stapes fixation; however, they were not sufficient to establish a definitive etiological diagnosis. Bilateral stapes fixation was suspected in a young boy with Jacob's syndrome. Behavioral, physiological, and electrophysiological hearing assessments indicated mild bilateral conductive hearing loss, with findings that were consistent with and supported by medical imaging. Although the exact etiology of the stapes fixation could not be determined, both congenital and acquired causes were considered. Incorporating comprehensive audiological and otological evaluations into the routine follow-up of children with Jacob's syndrome may facilitate early identification of hearing impairment, particularly during critical periods of speech and language development.

Effect of coupler tip size on round window stimulation with the floating mass transducer under controlled preload.

Objective:To investigate the clinical characteristics of hearing loss in the older people and analyze potential influencing factors associated with its occurrence. Methods:Subjects aged over 60 were recruited from a community in Beijing from 2020 to 2025. Self-perceived hearing status was recorded. After excluding conductive and mixed hearing loss based on pure-tone audiometry and acoustic immittance testing, the included participants were categorized into three groups: normal hearing group, high-frequency hearing loss group, and all-frequency hearing loss group. Comparisons were made regarding basic information, lifestyle, chronic disease history, otological symptoms, cognitive function, and emotional state. Weighted stepwise multiple logistic regression analysis was employed to identify potential factors associated with the occurrence of high-frequency and all-frequency hearing loss. Results:① A total of 910 participants were recruited, with 10.3%（94 cases） having normal hearing and 89.7%（816 cases） having hearing loss. Among those with hearing loss, 12.7%（104/816） had high-frequency hearing loss, while 87.3%（712/816） had all-frequency hearing loss. Compared to those with all-frequency hearing loss, subjects with high-frequency hearing loss reported a lower rate（19.2%） of self-perceived hearing loss. ② Univariate analysis revealed statistically significant differences among the three groups in terms of age, smoking, occupational noise exposure, hypertension, diabetes, chronic kidney disease, tinnitus, cognitive decline, and anxiety. ③ Weighted stepwise multiple logistic regression analysis indicated that the occurrence of high-frequency hearing loss was associated with smoking, diabetes, chronic kidney disease, and anxiety, while all-frequency hearing loss was associated with age, smoking, diabetes, tinnitus, cognitive decline, and anxiety. Conclusion:The incidence of hearing loss is high among the older people, with some cases affecting only high frequencies and exhibiting a low self-detection rate. The occurrence of hearing loss in the older adults may be related to smoking, diabetes, tinnitus, cognitive decline, and anxiety. Additionally, clinicians should be vigilant about high-frequency hearing in older individuals with chronic kidney disease and enhance clinical attention.

Adenoidectomy with tympanostomy or with myringotomy alone: A systematic review of pediatric randomized controlled trials.

Oval window atresia (OWA) is a rare otologic condition often associated with a maximal conductive hearing loss, and variable ossicular and facial nerve canal (FNC) anomalies, which have contributed to suboptimal middle ear surgical outcomes. No grading scheme exists to detail the spectrum of associated temporal bone anomalies in OWA; therefore, our objectives were to complete an audiometric and radiographic review to characterize audiometric patterns of hearing loss, and refine the classification system for OWA to determine suitability for middle ear surgery. A retrospective audiometric and radiographic review was conducted at a pediatric tertiary care institution. Patients with OWA identified on temporal bone computerized tomography (CT) scans obtained from 01/2010 to 06/2024 were included. Audiological, radiological, and patient factors were analyzed. Thirty-one patients (48 ears) with OWA were identified. Across frequencies, the air-bone gap decreased significantly as frequency increased (ANOVA with pairwise comparisons, p < 0.001) due to a worsening of bone conduction thresholds and improvement in air conduction thresholds. The FNC was abnormal in 43/48 ears and was determined to overlay the oval window in 6 ears. Additional anomalies included inferiorly displaced, dehiscent, and duplicated canals. Ossicular anomalies were reported in 46/48 ears, and stapedial anomalies were most common. Our findings indicate OWA may manifest audiometrically with consistent and specific hearing loss characterized by a 60-80 dB ABG at lower frequencies that decreases above 2 kHz. CT findings of OWA show considerable variability. We propose a new classification system for OWA based on facial nerve position as this directly influences middle ear surgical feasibility.

Primary Objective: To characterize high-resolution computed tomography (HRCT) fracture patterns, namely orientation and otic capsule status, among Sudanese patients with acute temporal bone trauma. Secondary Objectives: (i) To quantify the prevalence and pattern of concomitant craniofacial fractures, (ii) to describe early audiologic outcomes, and (iii) to document facial nerve dysfunction. Methods: Prospective cross-sectional study of 45 consecutive patients (≥5 years) with HRCT-confirmed TBF sustained within 7 days of injury, managed at two tertiary otolaryngology centers in Khartoum (October 2022–March 2023). All imaging, clinical, and audiologic variables were recorded once at the index presentation (≤7 days after trauma); the study did not include longitudinal follow-up. Two blinded experts independently classified fracture orientation (longitudinal, transverse, mixed/oblique), otic capsule status (sparing [OCS] vs. otic capsule-violating [OCV]), and ancillary HRCT signs (ossicular chain disruption, tympanic plate fracture, pneumolabyrinth/CSF leak); inter-observer reliability was assessed with Cohen’s κ. Concomitant craniofacial fractures, pure-tone audiometry, and House–Brackmann facial nerve grades were recorded. Predictor–outcome associations were examined with χ2 statistics (p &lt; 0.05). Results: Mean age 35.9 ± 17.4 years; 78% male. Road traffic accidents were associated with 58% of injuries. HRCT showed 60% longitudinal, 20% transverse, and 20% mixed/oblique fractures; 27% were OCV. Ossicular chain disruption, tympanic plate fracture, and ppneumolabyrinthCSF leak were present in 17.8%, 13.3%, and 8.9%, respectively. Concomitant craniofacial fractures occurred at 27%, chiefly Lefort III (15.6%) and Lefort II (8.9%). Transverse/mixed fractures were strongly associated with Lefort II–III injuries (χ2 = 16.2, p = 0.001); age (p = 0.21) and sex (p = 0.08) were non-significant. Conductive, sensorineural, and mixed hearing loss affected 69%, 13%, and 18%; facial nerve palsy occurred in 58%. Inter-observer agreement was substantial to almost perfect for all imaging variables (κ = 0.77–0.92). Conclusions: Although longitudinal fractures predominated, over one-quarter breached the otic capsule and one-fifth followed transverse/mixed planes, configurations associated with higher odds of conductive deafness, facial nerve palsy, and complex mid-facial fractures. HRCT provides reliable characterization and should underpin comprehensive head-and-mid-face trauma protocols. Enhanced road safety policies and multidisciplinary trauma care are vital for reducing neuro-otologic morbidity in resource-limited settings.

Congenital stapes footplate fixation (CSFF) is a rare cause of nonprogressive conductive hearing loss in pediatric patients. The concurrent absence of the stapedial tendon is exceptionally uncommon, and bilateral involvement has not been previously reported. This article describes a case of a 15-year-old male with a history of left hemifacial microsomia, bilateral microtia, and complex congenital heart disease who presented with longstanding bilateral conductive hearing loss with air-bone gap of 64 dB and 58 dB on the right and left, respectively. Surgical exploration revealed bilateral CSFF with absent stapedial tendons, with associated malformed ossicles including shortened and thinned incudal long processes with fibrous nonunion to malformed stapes suprastructures. After undergoing staged bilateral stapedotomy, postoperative audiometry demonstrated substantial improvement with air-bone gap reduced to 19 dB on the right and 15 dB on the left. Speech reception thresholds improved to 25 dB on the right and 15 dB on the left, representing functional hearing restoration. This case represented the first reported instance of bilateral CSFF with absent stapedial tendons. Surgical exploration remains essential in select patients, and stapedotomy can result in meaningful hearing restoration even in the setting of complex congenital ossicular anomalies.

Recently, conductive hearing loss (CHL) has been associated with dementia in two large independent cohorts. However, the disease-specific association with dementia is unknown. We investigate the association of specific CHL pathologies and dementia in a large national cohort. Cross-sectional epidemiologic study. NIH All of Us Research Program. Participants were ≥18 years old (n = 396,194). The exposures were CHL pathologies defined by ICD-10 code: cholesteatoma (H71.X), tympanic membrane (TM) perforation (H72.X), and otosclerosis (H80.X). The outcome was all-cause dementia defined by ICD-10 codes (F01, F03, G30-32). The odds of dementia in subjects with and without a CHL pathology were assessed with multivariable regression including age, sex, education, race, and ethnicity. Additional analyses included treatments. The mean (SD) age was 55 years (±17). After controlling for covariates, the odds of dementia were 1.77 times (1.08-2.73; P = .015) higher for cholesteatoma compared to those without, 2.09 times (1.68-2.59; P < .001) higher for TM perforation, and were nonsignificant for otosclerosis. After adding surgical treatment, odds of dementia dropped to 1.40 (0.82-2.27; P = .198) for cholesteatoma and 2.01 (1.60-2.50; P < .001) for TM perforation. Cholesteatoma and TM perforation were associated with dementia in the All of Us Research Program. Treatment attenuates these relationships. Given the general implausibility for dementia to cause these CHL pathologies, reverse causation-that dementia causes hearing loss-is an unlikely explanation for the association. This study adds to the evidence that cognition is impacted by sensory deprivation but extends to correctable conductive causes.

This review examines recent advances in community-based care for conductive hearing loss in low- and middle-income countries (LMICs), focusing on developments that have materially shifted the feasibility of decentralized service delivery across prevencommution, screening and diagnosis, medical management, and rehabilitation. World Health Organization guidance now explicitly endorses task-sharing for primary ear and hearing care, including community health worker-facilitated hearing aid provision. Long-term follow-up from pneumococcal vaccination trials demonstrates sustained otitis media prevention and improved hearing outcomes 16-20 years postvaccination. Smartphone-based screening and diagnostic tools, including AI-assisted otoscopy and mobile tympanometry, are enabling accurate community-level identification without specialist infrastructure. Medical management of common conductive hearing loss (CHL) causes, including cerumen impaction and uncomplicated chronic suppurative otitis media, can be safely delivered by trained community health workers and primary care nurses. Community-based hearing aid provision achieves sustained rehabilitation outcomes comparable to specialist-led models across diverse LMIC settings. Recent evidence demonstrates that community-based CHL care is feasible, safe, and effective when supported by appropriate training, technology, and task-sharing frameworks. The primary constraint to scale is no longer technological feasibility but prioritisation within health planning and financing frameworks.

We presented a rare case of positive middle ear pressure in tympanometry. 27 years old male patient complained about his bilateral ears fullness for 3 months. He said that it had increased after a travel by plane abroad. On physical examination he had bilateral normal ear findings. He had a septal deviation with acute rhino sinusitis . His nasopharynx was natural. His pure tone audiometry and speech audiometry resulted minimal conductive type hearing loss. Tympanometry test results were right ear peak was measured as +124 daPa and 1.82 ml Left ear peak was +110 daPa and 1.75 ml peak was measured. He received medical treatment.Chronic Positive middle ear pressure in tympanometry test result is very rare. Bulging of ears typically starts at + 125 daPa. Patient medical history usually as similar as Eustachian tube dysfunction. However, Continuous Positive Airway Pressure (CPAP) therapy, used in the treatment of Obstructive Sleep Apnea Syndrome (OSAS), should be kept in mind.

To investigate the audiological benefits and surgical outcomes of Osia 2 System implantation in patients with conductive and mixed hearing loss (CHL and MHL), over a 6-month follow-up. Prospective, single-arm clinical study. Single tertiary hospital. Eighteen patients with CHL or MHL who are unable to use hearing aids, between May 2023 and July 2024. Osia 2 implantation through a minimal incision along the hairline. Audiological evaluations including pure tone audiometry (PTA), speech audiometry (SA), recognition of hearing in noise tests (HINT), sound localization tests (LT), and the Abbreviated Profile of Hearing Aid Benefit (APHAB) questionnaire. Surgical outcomes and complications were also assessed preoperatively and postoperatively. Of the 18 patients (11 men; mean age: 61.94y), 15 had implantation alone (mean operation time: 53.67±10.43 min), and 13 under local anesthesia. No complications were observed. Significant improvements in aided PTA, with a gain of 35.56±22.22 dB HL at 4 kHz one month postoperatively. In SA, the mean speech recognition threshold, most comfortable level, and speech discrimination score also improved. In the HINT, the signal-to-noise ratio improved with various noise and stimulus orientations. In the LT, localization ability improved when stimuli were from the implant side. The APHAB score improved over time. The Osia 2 System provides effective audiological improvements in patients with CHL or MHL, unable to use hearing aids. With high-frequency amplification through a piezoelectric actuator and a minimal incision technique, the Osia 2 System offers reliable performance and safety.

Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) caused by biallelic ENPP1 mutations is a rare disorder with a broad phenotypic spectrum. We describe three affected siblings from a consanguineous family who presented with markedly heterogeneous clinical features. The proband exhibited classical signs of rickets with progressive lower-limb deformities, short stature, and elevated alkaline phosphatase. Her older sister demonstrated limited elbow extension, conductive hearing loss, and vascular stenoses, while the youngest sibling developed early biochemical abnormalities before overt skeletal manifestations of rickets emerged. All affected children had hypophosphatemia, reduced TmP/GFR, and elevated or inappropriately normal FGF23 concentrations, consistent with FGF23-mediated phosphate wasting. Notably, plasma inorganic pyrophosphate (PPi) levels were markedly reduced in the affected children and mildly reduced in the carriers of monoallelic mutation. Genetic testing identified a homozygous ENPP1 variant, c.2559_2561del p.(Leu854del), which was essential for establishing the diagnosis and distinguishing ARHR2 from other hereditary forms of hypophosphatemic rickets. The father had low lumbar spine bone mineral density. These cases highlight the clinical heterogeneity of ENPP1 deficiency and reinforce the essential role of genetic testing in establishing the correct diagnosis.

Middle ear osteomas are extremely rare benign tumors of the temporal bone and are most commonly associated with conductive hearing loss due to ossicular chain involvement. We report the case of a 24-year-old female who presented with left-sided hearing loss, intermittent otalgia, and taste disturbance. Radiological evaluation revealed a well-defined bony lesion within the middle ear. The patient was treated successfully using an endoscopic transcanal approach. Histopathological examination confirmed the diagnosis of osteoma. Postoperative audiometry demonstrated marked hearing improvement. This case highlights the rarity of middle ear osteomas and emphasizes the effectiveness of endoscopic ear surgery as a minimally invasive treatment option.

Effects of early childhood otitis media-related conductive hearing loss on speech perception, neural processing, and working memory.

Characterization of middle ear ossicular ligaments using photon counting detector CT.

Effect of external ear canal occlusion on acoustic pressure gain at the tympanic membrane.

Bone-conduction stimuli in oVEMP testing offer lower stimulus levels and independence of conductive hearing loss but lack a clinically suitable transducer for excitation. A new bone-conduction transducer (B250) has been developed which is easy to attach and can be directly connected to test stations. To compare, in a pilot investigation B250, Minishaker and Tendon hammer excitation, used for oVEMP and mastoid vibration measurements. oVEMPs in three subjects were measured using transducers driven by a 250 Hz condensation single sinus cycle and with a Tendon hammer, all applied at forehead Fz/AFz. Corresponding mastoid velocity was measured using a laser Doppler vibrometer (LDV). B250 and Minishaker often produced dual oVEMP peaks with an early n1 (mean latency: 8.8 ms) and a late n2 response (B250: 12.4/Minishaker: 13.3 ms), and with the Tendon hammer response in between. This finding was supported by a reinvestigation of a previous study (n=15). LDV velocity shows several positive peaks for B250 and one positive peak for the Minishaker. The acceleration response has two peaks 4 ms apart for both transducers, which seem to relate to the early and late oVEMP latencies. B250 may serve as a potential alternative, pending validation in larger samples, to the Minishaker at the forehead, but with care to polarity choice and latency interpretation.

Background Non-implantable bone conduction (BC) hearing systems are well-established for individuals with conductive or mixed hearing loss. Objective To evaluate the audiological performance of two wearing options—an adhesive adapter and headband—worn unilaterally and bilaterally using the same non-implantable BC hearing device Contact Forte (BHM Inc., Grafenschachen, Austria). Material and Methods Fifteen normal hearing adults with simulated bilateral conductive hearing losses participated in the study. Speech understanding in quiet and in noise were measured unaided and with BC devices worn unilaterally, bilaterally, with adhesive adapters, and mounted on headbands. Sound quality was rated using a questionnaire. Results At 50 dB SPL word recognition scores in quiet improved, on average, by 58% (unilateral), and 69% (bilateral) with adhesive adapters and by 65% and 74% with headbands. At 65 dB mean scores were above 95% in all aided conditions. In noise, speech presented speech reception thresholds decreased by 2.3–3.6 dB. With two devices, an additional benefit of 4.4 dB SNR (p<.001) was observed for speech from the side of the second device. Participants favored the bilateral configurations. Conclusion and significance Both wearing options showed comparable improvements in speech understanding. Bilateral fittings led to better speech understanding for one configuration and were favored subjectively.

This study aimed to examine auditory outcomes in young children implanted with active bone conduction implants. Prospective cohort study. A single tertiary referral academic center. Fourteen patients younger than 5 years of age who were implant with a piezoelectric active transcutaneous bone conduction implant (OSI) with a follow-up of at least 1 year. Demographics, surgical techniques, duration of surgery, hospital stay, auditory outcomes, postoperative complications, and device use were collected. After OSI surgery, patients were followed up for 1 week post-surgery, with devices switched on at 3 weeks postoperatively. Surgery and audiology follow-up occurred at 1, 3, 6 months, and 1 year. Perioperative course, surgical complications, aided audiograms, and speech discrimination scores were obtained 6 months and 1 year after implantation. Fourteen children received 18 implants (4 patients received bilateral simultaneous implants). The median implantation age in this study was 4.07 years (IQR=0.875). The indication for implantation was congenital conductive hearing loss (cCHL) due to external auditory canal atresia in 15/18 ears, and congenital single-sided deafness (SSD) in 3/18 ears. No patients experienced serious intraoperative or postoperative complications. For patients with cCHL, there was a significant postoperative improvement in hearing, marked by a median pure-tone average gain of 45 dB. All 14 patients regularly used their sound processors, with a median utility time of 10.6 h/day. There was no decline in the auditory performance in any ear throughout the median follow-up period of 2.36 years. Active transcutaneous piezoelectric bone conduction implants are a safe option for young children and provided significant and stable improvements in auditory function.