Otopalatodigital syndrome type I: New temporal bone CT-scan sign in a case with a de novo novel mutation / Síndrome otopalatodigital de tipo I: Nuevo signo de TC en una paciente con mutación de novo no descrita

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Phospholipidome of endothelial cells shows a different adaptation response upon oxidative, glycative and lipoxidative stress.

Endothelial dysfunction has been widely associated with oxidative stress, glucotoxicity and lipotoxicity and underlies the development of cardiovascular diseases (CVDs), atherosclerosis and diabetes. In such pathological conditions, lipids are emerging as mediators of signalling pathways evoking key cellular responses as expression of proinflammatory genes, proliferation and apoptosis. Hence, the assessment of lipid profiles in endothelial cells (EC) can provide valuable information on the molecular alterations underlying CVDs, atherosclerosis and diabetes. We performed a lipidomic approach based on hydrophilic interaction liquid chromatography-tandem mass spectrometry (HILIC-MS/MS) for the analysis of the phospholipidome of bovine aortic EC (BAEC) exposed to oxidative (H2O2), glycative (glucose), or lipoxidative (4-hydroxynonenal, HNE) stress. The phospholipid (PL) profile was evaluated for the classes PC, PE, PS, PG, PI, SM, LPC and CL. H2O2 induced a more acute adaptation of the PL profile than glucose or HNE. Unsaturated PL molecular species were up-regulated after 24 h incubation with H2O2, while an opposite trend was observed in glucose- and HNE-treated cells. This study compared, for the first time, the adaptation of the phospholipidome of BAEC upon different induced biochemical stresses. Although further biological studies will be necessary, our results unveil specific lipid signatures in response to characteristic types of stress.

Actividad laboral en pacientes tratados con implantes cocleares / Work activity in patients treated with cochlear implants

Introducción. El objetivo de este trabajo es conocer el impacto que el implante coclear (IC) tiene en la vida laboral de las personas implantadas, a través de una primera versión de un cuestionario elaborado en el programa de implantes cocleares de la Clínica Universidad de Navarra. Se pretende demostrar que el IC está teniendo un impacto significativo en la vida laboral de estos pacientes. Material y métodos. Se estudia una población de 60 pacientes de 48 años de edad media, con hipoacusia neurosensorial profunda bilateral tratada con un IC, a la que se le presenta un cuestionario elaborado para evaluar su calidad de vida laboral con carácter retrospectivo. Resultados. El 94,23% de los pacientes que completaron el cuestionario están actualmente satisfechos con su trabajo. El 93,05% se sienten más motivados para ir a trabajar tras su IC. Un 79,31% se consideran más competentes tras la cirugía y activación del dispositivo. Un 67,23% de los pacientes han mejorado sus relaciones interpersonales en el ámbito de trabajo tras la implantación coclear. Conclusiones. El IC proporciona una ayuda positiva en la esfera profesional al igual que en las destrezas sociales al beneficiar la capacidad de comunicación de los pacientes implantados. El desarrollo de herramientas para evaluar el grado de satisfacción laboral de los pacientes tratados con un IC es de gran interés (AU)

Introduction. The aim of this study was to determine the impact that the cochlear implant (CI) had in the working life of individuals implanted, using the first version of a questionnaire developed in the cochlear implant program at the University Clinic of Navarre. Its purpose was to demonstrate that the CI significantly affected the working lives of these patients. Material and methods. This was a retrospection study on a population of 60 patients (mean age, 48 years old) with bilateral profound sensorineural hearing loss treated with CI and to whom a questionnaire on working life satisfaction was given. Results. Of the patients completing the questionnaire, 94.23% were currently satisfied at work. Almost all of them (93.05%) were more motivated to go to work after the implantation. The majority (79.31%) considered themselves more competent after surgery and device activation. Social relations at work were considered to have improved after cochlear implantation by 67.23% of patients. Conclusions. The CI provided positive support in the professional sphere as well as in social abilities by improving communication skills of implanted patients. The development of tools to assess the degree of job satisfaction of patients treated with a CI is of great interest (AU)

Work activity in patients treated with cochlear implants. / Actividad laboral en pacientes tratados con implantes cocleares.

INTRODUCTION: The aim of this study was to determine the impact that the cochlear implant (CI) had in the working life of individuals implanted, using the first version of a questionnaire developed in the cochlear implant program at the University Clinic of Navarre. Its purpose was to demonstrate that the CI significantly affected the working lives of these patients. MATERIAL AND METHODS: This was a retrospection study on a population of 60 patients (mean age, 48 years old) with bilateral profound sensorineural hearing loss treated with CI and to whom a questionnaire on working life satisfaction was given. RESULTS: Of the patients completing the questionnaire, 94.23% were currently satisfied at work. Almost all of them (93.05%) were more motivated to go to work after the implantation. The majority (79.31%) considered themselves more competent after surgery and device activation. Social relations at work were considered to have improved after cochlear implantation by 67.23% of patients. CONCLUSIONS: The CI provided positive support in the professional sphere as well as in social abilities by improving communication skills of implanted patients. The development of tools to assess the degree of job satisfaction of patients treated with a CI is of great interest.

Development and evaluation of an audiology app for iPhone/iPad mobile devices.

CONCLUSION: The application described in this study appears to be accurate and valid, thus allowing calculation of a hearing handicap and assessment of the pure-tone air conduction threshold with iPhone/iPad devices. OBJECTIVE: To develop and evaluate a newly developed professional, computer-based hearing handicap calculator and a manual hearing sensitivity assessment test for the iPhone and iPad (AudCal). METHODS: Multi-center prospective non-randomized validation study. One hundred and ten consecutive adult participants underwent two hearing evaluations, a standard audiometry and a pure-tone air conduction test using AudCal with an iOS device. The hearing handicap calculation accuracy was evaluated comparing AudCal vs a web-based calculator. RESULTS: Hearing loss was found in 83 and 84 out of 220 standard audiometries and AudCal hearing tests (Cohen's Kappa = 0.89). The mean difference between AudCal and standard audiogram thresholds was -0.21 ± 6.38 dB HL. Excellent reliability and concordance between standard audiometry and the application's hearing loss assessment test were obtained (Cronbach's alpha = 0.96; intra-class correlation coefficient = 0.93). AudCal vs a web-based calculator were perfectly correlated (Pearson's r = 1).

A Puzzle of Vestibular Physiology in a Meniere's Disease Acute Attack.

The aim of this paper is to present for the first time the functional evaluation of each of the vestibular receptors in the six semicircular canals in a patient diagnosed with Meniere's disease during an acute attack. A 54-year-old lady was diagnosed with left Meniere's disease who during her regular clinic review suffers an acute attack of vertigo, with fullness and an increase of tinnitus in her left ear. Spontaneous nystagmus and the results in the video head-impulse test (vHIT) are shown before, during, and after the attack. Nystagmus was initially left beating and a few minutes later an upbeat component was added. No skew deviation was observed. A decrease in the gain of the vestibuloocular reflex (VOR) and the presence of overt saccades were observed when the stimuli were in the plane of the left superior semicircular canal. At the end of the crisis nystagmus decreased and vestibuloocular reflex returned to almost normal. A review of the different possibilities to explain these findings points to a hypothetical utricular damage.

Horizontal Eye Position Affects Measured Vertical VOR Gain on the Video Head Impulse Test.

BACKGROUND/HYPOTHESIS: With the video head impulse test (vHIT), the vertical VOR gain is defined as (vertical eye velocity/vertical head velocity), but compensatory eye movements to vertical canal stimulation usually have a torsional component. To minimize the contribution of torsion to the eye movement measurement, the horizontal gaze direction should be directed 40° from straight ahead so it is in the plane of the stimulated canal plane pair. HYPOTHESIS: as gaze is systematically moved horizontally away from canal plane alignment, the measured vertical VOR gain should decrease. STUDY DESIGN: Ten healthy subjects, with vHIT measuring vertical eye movement to head impulses in the plane of the left anterior-right posterior (LARP) canal plane, with gaze at one of five horizontal gaze positions [40°(aligned with the LARP plane), 20°, 0°, -20°, -40°]. METHODS: Every head impulse was in the LARP plane. The compensatory eye movement was measured by the vHIT prototype system. The one operator delivered every impulse. RESULTS: The canal stimulus remained identical across trials, but the measured vertical VOR gain decreased as horizontal gaze angle was shifted away from alignment with the LARP canal plane. CONCLUSION: In measuring vertical VOR gain with vHIT the horizontal gaze angle should be aligned with the canal plane under test.

Taking a lipidation-dependent path toward endolysosomes.

We recently reported that the isoprenylation and palmitoylation motif present at the C-terminus of human RhoB protein promotes intraluminal vesicle delivery of proteins in cells from organisms as phylogenetically apart as fungi and humans. Here we build on these observations by showing that chimeras of fluorescent proteins bearing this sequence, namely, CINCCKVL, which become isoprenylated and palmitoylated in cells, may be used to mark endolysosomes while preserving their morphology. Indeed, these chimeric proteins are devoid of the effects derived from overexpression of fluorescent constructs of full-length, active proteins widely used as endolysosomal markers, such as Lamp1 or Rab7, which cause lysosomal enlargement, or RhoB, which induces actin stress fibers. Moreover, the fact that lipidation-dependent endolysosomal localization of CINCCKVL chimeras can be ascertained in a wide variety of cells indicates that they follow a path toward endolysosomes that is conserved in diverse species. Therefore, CINCCKVL chimeras serve as robust tools to mark these late endocytic compartments.

Vestibulo-ocular reflex in patients with superior semicircular canal benign paroxysmal positional vertigo (BPPV).

CONCLUSION: The function of all the semicircular canals in patients with idiopathic benign paroxysmal positional vertigo (BPPV) in whom otoconial debris is located in the superior semicircular canal (SSC) is normal. OBJECTIVE: BPPV of SSC is an infrequent entity in which otoconial debris evokes vertigo and nystagmus in the head-hanging position and during anterior flexion of the patient. METHODS: We studied the vestibulo-ocular reflex (VOR) in 12 patients with this particular type of BPPV. The reflex was evoked by rapid head impulses in the plane of the three semicircular canals in the affected and the normal ear. The reflex was evaluated with a video system that analyzes the head and eye velocity: the gain (the relation between both magnitudes) was the objective measure. RESULTS: The mean gain of VOR was within normal limits for the six semicircular canals and there were no significant differences between the same canals on each side of patients with BPPV in whom canalolithiasis was located in the SSC. However, gain asymmetry was different for each pair of canals.