Ménière disease (MD) is a chronic inner ear disorder characterized by recurrent vertigo, fluctuating sensorineural hearing loss, and tinnitus, but its etiology remains poorly understood. We performed a genome-wide meta-analysis of 8,969 MD case subjects and 1,962,542 control subjects across five biobanks, identifying five independent genome-wide significant loci and estimating an observed-scale SNP heritability of 7% (SE 0.8%), indicating a modest but significant contribution of common genetic variation to MD risk. The genome-wide significant signals comprise two independent variants at EYA4, two at EYA1, and one near CYP26A1, with odds ratios between 1.1 and 1.25. Associations at two additional loci, LMO4 and ALDH1A2, fell just below the genome-wide significance threshold (5 × 10-8 <p < 5 × 10-7). Fine-mapping and integrative functional analyses implicate two convergent biological processes: developmental regulation of the inner ear, involving EYA4, EYA1, and LMO4, and retinoic acid metabolism, with associations near CYP26A1/C1 and ALDH1A2, suggesting disrupted retinoic acid signaling in sensory and fluid-pressure homeostasis. These developmental regulator genes are robustly expressed in fetal and adult human inner ear cell types, supporting a model in which altered developmental programs predispose individuals to adult vestibular and auditory dysfunction. Phenome-wide and genetic correlation analyses further reveal shared genetic architecture between MD and related traits, including vertigo, tinnitus, hearing loss, migraine, and sleep apnea, situating MD within a broader spectrum of sensory and neurological disorders. Collectively, these findings establish a genetic framework for Ménière disease risk and implicate developmental regulators of the inner ear and retinoic acid signaling as key contributing pathways.

The Desmoulin's whorl snail, Vertigo moulinsiana (Dupuy, 1849) (Gastropoda: Vertiginidae), an endangered micro-mollusc listed as Vulnerable in Annex II of the EU Habitats Directive, uses aestivation to survive environmental stress. This study aims to evaluate the effects of constant versus fluctuating thermal regimes on survival and activation dynamics of V. moulinsiana. Specimens from each age group individually (juveniles, subadults, adults distinguished based on the number of shell whorls and the presence of apertural barriers) were subjected to six thermal treatments: 23 °C, 35 °C, fluctuations between 25 °C and 35 °C, 4 °C, fluctuations between 4 °C and - 10 °C, and - 10 °C. Study shows that juveniles exhibited the lowest survival rates under low-temperature treatments, whereas adults displayed the tolerance to cold spells. Subadult survival was not significantly influenced by any temperature. Juveniles showed also higher survival under high-temperature treatments. However, due to sensitivity to desiccation, these temperatures must occur with suitable air humidity. Importantly, temperature fluctuations substantially sped up activation time across all the age groups, whereas constant temperatures led to bet-hedging response. Given the increasing frequency of extreme climate events under ongoing climate change, these results suggest even increased vulnerability of this species. Understanding its responses to environmental stress is therefore critical for getting to know protection strategies for V. moulinsiana.

Congenital facial palsy most commonly results from perinatal trauma. Developmental causes are rare and typically occur within syndromic constellations such as Möbius, Goldenhar, or CHARGE (coloboma, heart defects, atresia choanae, retarded growth, genital abnormalities, ear anomalies). Non-syndromic developmental facial palsy (DFP) is exceedingly uncommon and is thought to arise from disturbances in facial motor nucleus development, the intrapontine facial nerve tract, or its vascular supply. Chiari I malformation (CM-I) is characterized by ≥5 mm cerebellar tonsillar descent below the foramen magnum, producing posterior fossa crowding and impaired cerebrospinal fluid dynamics. CM-I-associated cranial neuropathies, including facial nerve involvement, have been reported in the setting of secondary structural pathology such as syringomyelia, syringobulbia, or basilar invagination. We report a 37-year-old woman with a lifelong House-Brackmann grade III left facial palsy, documented at first cry and stable since birth, who presented with a six-month history of Valsalva-exacerbated occipital headaches, positional vertigo, and posterior cervical allodynia. Magnetic resonance imaging demonstrated 12-mm tonsillar ectopia with brainstem compression, without syrinx, syringobulbia, or basilar invagination, and incidentally revealed a thin elevated corpus callosum with mild ventricular prominence. Posterior fossa decompression with suboccipital craniectomy, C1 laminectomy, and autologous duraplasty resolved her CM-I symptoms. After an extensive literature review, we found no prior reports of non-syndromic DFP coexisting with CM-I in the absence of syringomyelia, syringobulbia, basilar invagination, or syndromic features. Although coincidence cannot be excluded, the corpus callosum and ventricular findings suggest a shared prenatal disturbance. These features may reflect parallel manifestations affecting overlapping developmental programs during ontogeny, rather than a direct causal relationship. A systematic framework comprising neuroimaging, electrodiagnostics, and targeted genomic profiling in similar cases may elucidate a developmental pattern from isolated coincidence, with potential implications for early surveillance.

One of the most common complaints in ENT clinics is dizziness. Although most cases are caused by vestibular neuritis and benign paroxysmal positional vertigo (BPPV), a significant number of patients experience non-vestibular dizziness. One non-vestibular cause is postural orthostatic tachycardia syndrome (POTS), which presents with symptoms similar to vestibular migraine (VM) and persistent postural perceptual dizziness (PPPD). Dizziness from POTS is related to dysautonomia rather than the vestibular system. In otolaryngology, understanding the autonomic nature of non-vestibular dizziness is important for accurate diagnosis. This study aims to review the clinical characteristics and pathophysiology of POTS, vestibular migraine, and PPPD; examine historical, physical, and diagnostic findings that differentiate autonomic and vestibular causes of dizziness; and develop a more specific model for evaluating chronic dizziness in the ENT setting. Literature on dizziness, vestibular and autonomic pathophysiology, and the clinical presentation of POTS, VM, and PPPD is reviewed in this paper. The timing of symptoms, their triggers, and objective assessment are key differentiating factors for these disorders. Various diagnostic tools, including orthostatic vital signs, oculomotor assessment, gait and balance evaluation, vestibular function assessment, tilt table testing, and neuroimaging, are also reviewed. Clear distinctions among POTS, VM, and PPPD are made. The diagnostic criteria for POTS are orthostatic tachycardia and posture-dependent symptoms that improve when the patient is in a recumbent position, effectively ruling out vestibular involvement in these patients. Vestibular migraine presents with vertigo accompanied by migraine features such as photophobia, phonophobia, or headache, typically triggered by sensory or environmental factors rather than changes in posture. PPPD manifests as chronic non-spinning dizziness and imbalance lasting at least three months, exacerbated by motion, upright posture, and complex visual environments. Orthostatic vital signs and autonomic assessment should be included in the evaluation of patients presenting with dizziness to differentiate between these disorders. Both vestibular and autonomic dysfunction can lead to chronic dizziness. By incorporating autonomic assessments into vestibular evaluations, ENT physicians can apply a more precise diagnostic model for their patients. Identifying dysautonomia-related dizziness, including POTS, helps reduce the misdiagnosis of vestibular disorders. This approach enables physicians to provide more effective interventions for patients with complex dizziness.

A woman aged in her 50s presented with sudden onset of vertigo, headaches and epistaxis, initially attributed to her background of chronic systemic hypertension. Ophthalmological history was significant for bilateral proliferative diabetic retinopathy and retinal detachment managed with vitrectomy, endolaser and intraocular silicone oil 5 years prior to the current presentation. Review of the initial non-contrast CT by our neuroradiology department identified right subretinal silicone oil, tracking along the subarachnoid space of the right optic sheath, right suprasellar cistern and non-dependent lateral ventricles. Initially interpreted as acute haemorrhage at an external facility, the patient underwent repeat imaging over a period of 6 months that failed to demonstrate expected temporal resolution of blood products. A subsequent unifying diagnosis of disseminated subarachnoid and intraventricular silicone oil was established. The following case highlights the relevant clinical history when requesting imaging and pertinent radiological findings when reporting patients postretinal detachment surgery.

[This corrects the article DOI: 10.3389/fneur.2024.1436127.].

This study systematically evaluated the safety profile of esketamine for treatment-resistant depression through a meta-analysis, focusing on dose-dependent adverse events and associated risk factors to inform precision dosing.

Bow hunter's syndrome (BHS) causes vertebrobasilar insufficiency when head rotation compresses the vertebral artery (VA).[1,2] Although classically craniocervical, subaxial cases from osteophytic V2 compression lack standardized management with treatments ranging from decompression to stenting.[3-5] During decompression, intraoperative VA patency confirmation is essential, as static postoperative imaging cannot reliably exclude residual dynamic compression, and delayed confirmation may necessitate reoperation.[6,7] We present two cases of subaxial rotational occlusion syndrome (subaxial BHS) treated with anterior cervical decompression and intraoperative angiography in a hybrid operating suite. Case 1: an 80-year-old woman with neck pain, dizziness, tinnitus, near-syncope, and ocular symptoms on leftward head rotation; CT/dynamic angiography showed left VA narrowing at C4-C5 from spondylotic compression. Case 2: a 57-year-old woman with prior Eagle syndrome with vertigo, nausea, and blurred vision on left neck rotation; MRA demonstrated focal left V2 stenosis at C5-C6 from uncovertebral osteophytes and incidental distal VA fenestration. Both underwent anterior V2 exposure, ultrasonic drilling of osteophytes, Gore-Tex/fibrin glue reinforcement, and ACDF (C4-C5; C5-C6) to eliminate residual rotational motion at the decompressed segment. Intraoperative biplane angiography via left radial access (Isovue 300; 6 mL at 6 mL/sec per 2D run; 18 mL at 3 mL/sec for 3D acquisition) with simulated head turning, performed 10-15 minutes after hemostasis under general anesthesia, supplemented by 3D rotational angiography in Case 2 to characterize the VA fenestration, showed no head-turning compression and confirmed complete VA patency.[8,9] Both were discharged on postoperative day three and complete symptom resolution was confirmed at 6 weeks.