A5004535461- Olfactory and Sensory Function Studies
- Biochemical Analysis and Sensing Techniques
- Obstructive Sleep Apnea Research
- Hearing, Cochlea, Tinnitus, Genetics
- Neuroscience of respiration and sleep
- Advanced Chemical Sensor Technologies
- Vestibular and auditory disorders
- Hearing Loss and Rehabilitation
- Mitochondrial Function and Pathology
- Nasal Surgery and Airway Studies
- RNA regulation and disease
- Child Nutrition and Feeding Issues
- Cytomegalovirus and herpesvirus research
- Cellular transport and secretion
- Oropharyngeal Anatomy and Pathologies
- Banana Cultivation and Research
- Hearing Impairment and Communication
- Ear Surgery and Otitis Media
- Cancer and Skin Lesions
- Medical Practices and Rehabilitation
- Respiratory Support and Mechanisms
- ATP Synthase and ATPases Research
- Delphi Technique in Research
- Ear and Head Tumors
- Polyomavirus and related diseases
Hôpital Beau-Séjour
2018-2024
University Hospital of Geneva
2012-2024
Queen Fabiola Children's University Hospital
2017
University of Geneva
2009-2010
Cochlear (Switzerland)
2010
Abstract Objectives/Hypothesis: Persistent taste disturbance is a rare complication after tonsillectomy and mainly documented by case reports or few retrospective prospective trials with limited number of patients. None could clarify frequency, time course, prognosis long‐lasting dysgeusia tonsillectomy. The aim the study was to provide symptom‐based follow‐up assess postoperative disorders. Study Design: Prospective clinical trial. Methods: From December 2007 June 2009 adult patients...
Abstract Introduction: Chorda tympani injury as a complication of middle-ear surgery has been extensively studied with regard to its effects upon taste. However, the chorda also carries parasympathetic fibres salivary glands oral cavity. To date, little reported about effect section function. Setting: Tertiary care centre. Material and methods: We report case series three patients bilateral lesions. function was assessed using ‘taste strips’ unstimulated sialometry. A careful history...
Abstract In a former study, taste disturbances after tonsillectomy seemed to be more frequent than expected. Eight percent of patients reported subjective disorders 6 months tonsillectomy. Fifteen from the initial trial, who tonsillectomy, were contacted again for this long‐term follow‐up. A telephone interview using same questionnaire addressing current self‐estimate function was performed. At 32 ± 10 following surgery, two (0.9%) still suffering disturbance. This follow‐up study shows that...
Bi-allelic loss-of-function variants of OTOA are a well-known cause moderate-to-severe hearing loss. Whereas non-allelic homologous recombination-mediated deletions the gene well known, conversions to pseudogene OTOAP1 have been reported in literature but never fully described nor their pathogenicity assessed. Here, we report two unrelated patients with moderate hearing-loss, who were compound heterozygotes for converted allele and deletion OTOA. The initially detected through sequencing...
Because of their immaturity, many premature infants are fed via nasogastric tube. One objective the neonatal care is to feed orally early. The olfactory function developed before birth and odorants have a significant impact on nutrition in infants. aim study was test whether odor stimulation has positive effect transition from gavage oral feeding Participants were with gestational age more than 27 weeks, full or partial feeding, stable vital parameters without invasive ventilation. Before...
Hearing loss is characterized by an extensive genetic heterogeneity and remains a common disorder in children. Molecular diagnosis of particular benefit children, permits the early identification clinically-unrecognized hearing syndromes, which effective clinical management follow-up, including counselling.We performed whole-exome sequencing with analysis panel 189 genes associated prospective cohort 61 children 9 adults presenting mainly isolated loss.The overall diagnostic rate using exome...
Auditory impairment in mitochondrial disorders are usually due to peripheral sensorineural dysfunction. Central deafness is only rarely reported. We report here an 11-year-old boy with MELAS syndrome who presented subacute after waking up from sleep. Peripheral hearing loss was rapidly excluded. A brain MRI documented bilateral stroke-like lesions predominantly affecting the superior temporal lobe, including primary auditory cortex, confirming central nature of deafness. Slow recovery...
Abstract Objectives/Hypothesis: Orthonasal olfaction is severely altered in PD patients. Retronasal olfactory function has been shown to be preserved under certain conditions even the absence of orthonasal function. This study was undertaken investigate retronasal versus Parkinson's disease (PD). Study Design: Prospective study. Methods: A total 45 patients (mean age, 61 years; range 26–82 years) underwent testing with a standardized test (Sniffin' Sticks) and 10‐item identification kit...
The assessment of acute vertigo in childhood is often challenging, but fortunately a central cause rarely identified. We present the case 7-year-old boy who developed, after mild head trauma, rotary associated with nausea and vomiting. A posttraumatic peripheral vestibular dysfunction was first suspected not confirmed by an otoneurological evaluation. When subtle neurological signs were elicited, brain magnetic resonance imaging promptly requested. This showed small infarct on lateral...
Vestibular deficits are considered rare in children, but the lack of systematic screening leads to underdiagnosis. It has been demonstrated that chronic vestibular dysfunction impacts normal psychomotor development children. Early identification is needed allow for clinical management, ensuring better global development. For this purpose, our research group developed Geneva Balance Test (GBT), aiming objectively quantify balance capacity children over a broad age range, screen bilateral...
The prevalence of obstructive sleep apnea syndrome (OSAS) in children referred for sleep-disordered breathing reaches up to 59%. We aimed test the adequacy a questionnaire compared home respiratory polygraphy (HRP), 45 subjects (5–16 years-old), without maxillofacial malformations nor other comorbidities, presenting with symptoms compatible OSAS. All passed 12-items (Obstructive Airway Child test: OACT) and HRP. OSAS was classified severity according apnea-hypopnea index (AHI). With HRP, 60%...
Cochlear implants have been used in prelingual deaf children for almost thirty years. Results reported are excellent, but there is a large variability the performances observed this group of children. It known that age at implantation determinant factor quality results obtained (Harrison et al., 2001; Nikolopoulos 1999). Children implanted after 6 tend to be worse performers when compared younger ages 1999; Kos 2009). Among implanted, those who were before 3 show which better than somewhat...
Complex ear reconstruction requires specialized multidisciplinary care. Most patients present with microtia, often associated hearing disorders. The management of these disorders is a priority, and the external remains optional. Nowadays, auricular based on subcutaneous implantation either autologous cartilage or an allogeneic implant. Autologous highly surgical expertise involves harvesting rib but carries lower risk exposure compared to implants. Both techniques yield good results high...
Cytomegalovirus is the most common cause of congenital infection worldwide. 90 % children infected in utero are born without symptoms, but 15 them will develop disorders within first five years life. The affect inner ear, resulting sensorineural hearing loss and/or vestibular dysfunction (VD). VD often unrecognized and confused with conditions -affecting central nervous system. It can delays psychomotor development predispose to overall developmental delay. Early diagnosis treatment...
Abstract Objective Congenital cytomegalovirus (CMV) infection is a common intrauterine and the leading cause of nonhereditary sensorineural hearing loss. This study aims to assess long-term outcome identify infants at risk developing sequelae. Methods retrospective single-center observational includes born between 2003 2019 with confirmed congenital CMV (based on current criteria). Brain imaging (ultrasound magnetic resonance [MRI]), clinical monitoring neurosensory development, auditory...
Biallelic loss-of-function variants in STRC contribute to mild-moderate hearing loss (DFNB16). Here, we report a female patient with mild loss. Exome sequencing and MLPA analysis revealed biallelic inactivation due nonsense CKMT1B-STRC deletion. Analysis of the self-reported normal-hearing parents inconsistent mendelian inheritance. Indeed, mother was heterozygous carrier CKTM1B-STRC-CATSPER2 deletion, father shared same genotype as his daughter. He later found also have To address these...