Audiovestibular Findings in Patients with Concurrent Superior Canal Dehiscence and Vestibular Schwannoma.

OBJECTIVE: To describe the clinical-instrumental findings in case of concurrent superior canal dehiscence (SCD) and ipsilateral vestibular schwannoma (VS), aiming to highlight the importance of an extensive instrumental assessment to achieve a correct diagnosis. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENTS: Five patients with concurrent SCD and VS. INTERVENTION: Clinical-instrumental assessment and imaging. MAIN OUTCOME MEASURE: Clinical presentation, audiovestibular findings, and imaging. RESULTS: The chief complaints were hearing loss (HL) and unsteadiness (80%). Other main symptoms included tinnitus (60%) and pressure-induced vertigo (40%). Mixed-HL was identified in three patients and pure sensorineural-HL in 1, including a roll-over curve in speech-audiometry in two cases. Vibration-induced nystagmus was elicited in all cases, whereas vestibular-evoked myogenic potentials showed reduced thresholds and enhanced amplitudes on the affected side in three patients. Ipsilesional weakness on caloric testing was detected in three patients and a bilateral hyporeflexia in one. A global canal impairment was detected by the video-head impulse test in one case, whereas the rest of the cohort exhibited a reduced function for the affected superior canal, together with ipsilateral posterior canal impairment in two cases. All patients performed both temporal bones HRCT scan and brain-MRI showing unilateral SCD and ipsilateral VS, respectively. All patients were submitted to a wait-and-scan approach, requiring VS removal only in one case. CONCLUSION: Simultaneous SCD and VS might result in subtle clinical presentation with puzzling lesion patterns. When unclear symptoms and signs occur, a complete audiovestibular assessment plays a key role to address imaging and diagnosis.

Low-Frequency Air-Bone Gap and Pulsatile Tinnitus Due to a Dural Arteriovenous Fistula: Considerations upon Possible Pathomechanisms and Literature Review.

Low-frequency air-bone gap (ABG) associated with pulsatile tinnitus (PT) and normal impedance audiometry represents a common finding in patients with third window syndromes. Other inner disorders, including Meniere's disease (MD), perilymphatic fistula and intralabyrinthine schwannoma, might sometimes result in a similar scenario. On the other hand, PT is frequently associated with dural arteriovenous fistula (DAVF), while conductive hearing loss (CHL) is extremely rare in this clinical setting. A 47-year-old patient was referred to our center with progressive left-sided PT alongside ipsilateral fullness and hearing loss. She also experienced headache and dizziness. Otoscopy and video-oculographic examination were unremarkable. Conversely, a detailed instrumental audio-vestibular assessment revealed low-frequency CHL with normal impedance audiometry, slight left-sided caloric weakness, slightly impaired vestibular-evoked myogenic potentials on the left and normal results on the video-head impulse test, consistent with an MD-like instrumental profile. Gadolinium-enhanced brain MRI revealed an early enhancement of the left transverse sinus, consistent with a left DAVF between the left occipital artery and the transverse sinus, which was then confirmed by angiography. A trans-arterial embolization with Onyx glue was performed, resulting in a complete recession of the symptoms. Post-operatively, the low-frequency ABG disappeared, supporting the possible role of venous intracranial hypertension and abnormal pressure of inner ear fluids in the onset of symptoms and offering new insights into the pathomechanism of inner ear CHL.

Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome.

(1) Background: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by late-onset cerebellar ataxia, bilateral vestibulopathy, and sensory neuronopathy mostly due to biallelic RFC1 expansion. (2) Objectives: The aim of this case series is to describe vestibular, gait, and speech alterations in CANVAS via a systematic approach. (3) Methods: All patients (n = 5) underwent a standardized clinical-instrumental examination, including the perceptual and acoustic analysis of speech, instrumental gait, and balance analysis (posturographic data were acquired using a force plate [Kistler, Winterthur, Switzerland] while 3D gait analysis, inclusive of surface electromyography, was acquired using a motion capture system [SMART DX, BTS Bioengineering, Milan, Italy], a wireless electromyograph [FreeEMG, BTS Bioengineering, Milan, Italy]), and vestibular assessment with video-oculography. (4) Results: Five patients were included in the analysis: three females (patients A, B, C) and two males (patients D and E) with a mean age at evaluation of 62 years (SD ± 15.16, range 36-74). The mean age of symptoms' onset was 55.6 years (SD ± 15.04, range 30-68), and patients were clinically and instrumentally evaluated with a mean disease duration of 6.4 years (SD ± 0.54, range 6-7). Video-Frenzel examination documented spontaneous downbeat nystagmus enhanced on bilateral gaze in all patients, except for one presenting with slight downbeat nystagmus in the supine position. All patients exhibited different degrees of symmetrically reduced VOR gain for allsix semicircular canals on the video-head impulse test and an unexpectedly normal ("false negative") VOR suppression, consistent with combined cerebellar dysfunction and bilateral vestibular loss. Posturographic indices were outside their age-matched normative ranges in all patients, while 3D gait analysis highlighted a reduction in ankle dorsiflexion (limited forward rotation of the tibia over the stance foot during the stance phase of gait and fatigue of the dorsiflexor muscles) and variable out-of-phase activity of plantar flexors during the swing phase. Finally, perceptual-acoustic evaluation of speech showed ataxic dysarthria in three patients. Dysdiadochokinesis, rhythm instability, and irregularity were observed in the oral diadochokinesis task. (5) Conclusions: CANVAS is a recently discovered syndrome that is gaining more and more relevance within late-onset ataxias. In this paper, we aimed to contribute to a detailed description of its phenotype.

Five carbon- and nitrogen-bearing species in a hot giant planet's atmosphere.

The atmospheres of gaseous giant exoplanets orbiting close to their parent stars (hot Jupiters) have been probed for nearly two decades1,2. They allow us to investigate the chemical and physical properties of planetary atmospheres under extreme irradiation conditions3. Previous observations of hot Jupiters as they transit in front of their host stars have revealed the frequent presence of water vapour4 and carbon monoxide5 in their atmospheres; this has been studied in terms of scaled solar composition6 under the usual assumption of chemical equilibrium. Both molecules as well as hydrogen cyanide were found in the atmosphere of HD 209458b5,7,8, a well studied hot Jupiter (with equilibrium temperature around 1,500 kelvin), whereas ammonia was tentatively detected there9 and subsequently refuted10. Here we report observations of HD 209458b that indicate the presence of water (H2O), carbon monoxide (CO), hydrogen cyanide (HCN), methane (CH4), ammonia (NH3) and acetylene (C2H2), with statistical significance of 5.3 to 9.9 standard deviations per molecule. Atmospheric models in radiative and chemical equilibrium that account for the detected species indicate a carbon-rich chemistry with a carbon-to-oxygen ratio close to or greater than 1, higher than the solar value (0.55). According to existing models relating the atmospheric chemistry to planet formation and migration scenarios3,11,12, this would suggest that HD 209458b formed far from its present location and subsequently migrated inwards11,13. Other hot Jupiters may also show a richer chemistry than has been previously found, which would bring into question the frequently made assumption that they have solar-like and oxygen-rich compositions.

The Fate of the Tricuspid Valve After the Transatrial Closure of the Ventricular Septal Defect.

BACKGROUND: The transatrial repair of the ventricular septal defect (VSD) requires an adequate exposure of its rim. We retrospectively evaluated the effect of using the tricuspid valve incision (TVI) technique, with detachment or radial incision, on the postoperative outcome of children undergoing surgical VSD repair. METHODS: From January 2008 to September 2017, we retrospectively enrolled 141 patients, divided into two groups: 97 patients (68.8%) underwent TVI and 44 patients (31.2%) did not undergo TVI. All patients received an echocardiogram upon discharge from the hospital and after 1 month, 3 months, 6 months, and 1 year from the treatment. RESULTS: No perioperative or late deaths occurred. TVI was associated with a slightly longer cardiopulmonary bypass and cross-clamp time, but there were no differences in the surgical outcome between the two groups. Moreover, no differences occurred concerning residual VSD, atrioventricular block, or tricuspid regurgitation at discharge. Echocardiograms at follow-up were available for 134 patients (95%) with a median of 5.3 years (range, 0.5 to 9.3 years), and the degree of tricuspid regurgitation did not differ between groups. No patient required reoperation for tricuspid regurgitation or residual interventricular shunt. Finally, no difference was found when the two TVI subgroups were compared. CONCLUSIONS: TVI should be used whenever intraoperative exposure of VSD is compromised to avoid a residual shunt and atrioventricular block. Here we show that this procedure does not significantly compromise tricuspid function, although a large, multicenter, randomized controlled trial is advised to validate this hypothesis.

A Cubesat Payload for Exoplanet Detection.

The search for undiscovered planets outside the solar system is a scientific topic that is rapidly spreading into the astrophysical and engineering communities. In this framework, the design of an innovative payload to detect exoplanets from a nano-sized space platform, like a 3U cubesat, is presented. The selected detection method is photometric transit, and the payload aims to detect flux decrements down to ~0.01% with a precision of 12 ppm. The payload design is also aimed at false positive recognition. The solution consists of a four-facets pyramid on the top of the payload, to allow for measurement redundancy and low-resolution spectral dispersion of the star images. The innovative concept is the use of a small and cheap platform for a relevant astronomical mission. The faintest observable target star has V-magnitude equal to 3.38. Despite missions aimed at ultra-precise photometry from microsatellites (e.g., MOST, BRITE), the transit of exoplanets orbiting very bright stars has not yet been surveyed photometrically from space, since any observation from a small/medium sized (30 cm optical aperture) telescope would saturate the detector. This cubesat mission can provide these missing measurements. This work is set up as a demonstrative project to verify the feasibility of the payload concept.