Vestibular evoked myogenic potentials.

Vestibular Evoked Myogenic Potentials (VEMP) are commonly recorded in patients experiencing vertigo or chronic instability. This test evaluates the patient's otolith function and is often combined with both Videonystagmography and Video Head Impulse Test. VEMP is a simple, reproducible test, in the absence of any pre-existing conductive hearing loss. Cervical VEMP explore both saccular function and the inferior vestibular nerve, whereas ocular VEMP assess utricular function and the superior vestibular nerve. In combination with previously described tests, VEMP allows characterization of vertigo and provides support for the diagnosis of superior semicircular canal dehiscence syndrome, Menière's disease, vestibular neuritis, vestibular schwannoma or idiopathic bilateral vestibulopathy. A good knowledge of these electrophysiological tests is essential in order to precisely assess the presence or absence of vestibular function impairment. We describe the test recording technique and the most common pitfalls in interpretation of the results. We then outline the results observed in various diseases impacting vestibular function.

Assessment of primary lymphedema and post-thrombotic lower limb edema patient's pathway.

OBJECTIVES: To assess: (1) lower limb primary lymphedema or post-thrombotic syndrome patient's pathway in terms of health care professional use and (2) if aetiology of edema has an impact on this pathway. METHODS: Ancillary survey of the transversal prospective CHROEDEM pilot study. Forty patients with either lower limb primary lymphedema or post-thrombotic syndrome were invited to participate. RESULTS: Seventy-five percent of primary lymphedema patients and 50% of post-thrombotic patients benefited from a multidisciplinary management (P=0.10) including the general practitioner, the vascular medicine physician and either a physiotherapist (particularly in case of primary lymphedema), a registered nurse (particularly in case of post-thrombotic syndrome). Main ambulatory health care professionals' correspondent of hospital-based vascular medicine physicians were general practitioners (80%) in post-thrombotic patients, and general practitioners (60%) and physiotherapists (45%) in primary lymphedema patients. Pharmacists were also involved in patient education. CONCLUSION: Management of primary lymphedema and post-thrombotic related chronic edema is usually multidisciplinary. General practitioners and vascular medicine physicians are the cornerstones of this management, that also involves the physiotherapist in case of primary lymphedema and in a lesser extent the registered nurse and the pharmacist. This suggests that these five healthcare professional should play a key role in case of development of standardized patient pathways for primary lymphedema and post-thrombotic syndrome.

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

Hearing loss is the most common sensory disorder and because of its high genetic heterogeneity, implementation of Massively Parallel Sequencing (MPS) in diagnostic laboratories is greatly improving the possibilities of offering optimal care to patients. We present the results of a two-year period of molecular diagnosis that included 207 French families referred for non-syndromic hearing loss. Our multi-step strategy involved (i) DFNB1 locus analysis, (ii) MPS of 74 genes, and (iii) additional approaches including Copy Number Variations, in silico analyses, minigene studies coupled when appropriate with complete gene sequencing, and a specific assay for STRC. This comprehensive screening yielded an overall diagnostic rate of 48%, equally distributed between DFNB1 (24%) and the other genes (24%). Pathogenic genotypes were identified in 19 different genes, with a high prevalence of GJB2, STRC, MYO15A, OTOF, TMC1, MYO7A and USH2A. Involvement of an Usher gene was reported in 16% of the genotyped cohort. Four de novo variants were identified. This study highlights the need to develop several molecular approaches for efficient molecular diagnosis of hearing loss, as this is crucial for genetic counselling, audiological rehabilitation and the detection of syndromic forms.

Interest of an auto-adjustable nighttime compression sleeve (MOBIDERM® Autofit) in maintenance phase of upper limb lymphedema: the MARILYN pilot RCT.

PURPOSE: Breast cancer-related lymphedema (BCRL) is a debilitating condition. The recommended treatment is based on decongestive lymphedema therapy (DLT) with two separate phases: a short-term intensive phase to reduce lymphedema volume and a long-term maintenance phase to stabilize it. Optimizing compression therapy and compliance during maintenance phase are key factors for long-term control of lymphedema. The primary objective of this pilot prospective open-label randomized study was to assess the benefit of a new auto-adjustable nighttime arm sleeve (MOBIDERM® Autofit) on lymphedema volume during the maintenance phase after the intensive phase. METHODS: Forty women with BRCL were consecutively enrolled and randomized (D0) for 1 month in 1:1 ratio either in night-use group: with MOBIDERM® Autofit (on top of a daytime compression hosiery), or in no night-use group: without MOBIDERM® Autofit (daytime hosiery alone). From Day 31 to Day 90, all patients were fitted with MOBIDERM® Autofit. Primary endpoint was lymphedema volume variation between Day 0 and Day 30. Secondary endpoints were compliance, quality of life (LYMQOL arm questionnaire), functional symptoms (heaviness, limb use limitation, pain), sleep quality, and safety. RESULTS: In ITT population, between Day 0 and Day 30, mean lymphedema volume increase was higher in no night-use group with 92.9 mL (i.e., 3.2%) than in night-use group with 46.7 mL (i.e., 1.80%), p = 0.757. Between Day 30 and Day 90, all patients fitted with MOBIDERM® Autofit, lymphedema volume remained stable in both groups. The device improved functional symptoms and function domain of the LYMQOL arm questionnaire. MOBIDERM® Autofit was worn overnight almost 85% of the nights. It was well accepted by the patients and no adverse reaction leading to permanent device discontinuation occurred. CONCLUSIONS: Our results suggest that MOBIDERM® Autofit offers clinical benefits during maintenance phase of lymphedema treatment and enhances patient's self-management.

[Auto-immune sensorineural deafness: physiopathology and therapeutic approach]. / Surdités auto-immunes : bases pathogéniques et applications thérapeutiques.

Sensorineural hearing loss may be due to an autoimmune mechanism. The mechanisms that could induce autoimmune inner ear damage are now better understood, but are not exclusive. Moreover, there is no specific immunologic test available for the diagnosis of autoimmune sensorineural hearing loss, which could also complicate the disease course of other autoimmune systemic diseases. Thus, the incidence of sensorineural autoimmune hearing loss is probably underestimated. The aim of this study was to review the experimental immunologic data in favour of an autoimmune mechanism in this subgroup of sensorineural hearing loss: humoral specific response against inner ear (autoantibodies against a transmembrane transporter) and also cellular response (against cochlin: one of the major proteins expressed in the inner ear). The aim of this review was also to focus on clinical and epidemiological human data that provide evidence for an autoimmune etiopathogeny of some sensorineural hearing loss. Therapeutic options such as immunosuppressive treatments (oral corticosteroids and other immunosuppressive drugs, such as methotrexate and anti-TNFalpha) are also discussed.

Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.

In the present study, we report a kindred with hearing loss, congenital heart defects, and posterior embryotoxon, segregating as autosomal dominant traits. Six of seven available affected patients manifested mild-to-severe combined hearing loss, predominantly affecting middle frequencies. Two patients were diagnosed with vestibular pathology. All patients had congenital heart defects, including tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis. No individual in this family met diagnostic criteria for any previously described clinical syndrome. A candidate-gene approach was undertaken and culminated in the identification of a novel Jagged 1 (JAG1) missense mutation (C234Y) in the first cysteine of the first epidermal-growth-factor-like repeat domain of the protein. JAG1 is a cell-surface ligand in the Notch signaling pathway. Mutations in JAG1 have been identified in patients with Alagille syndrome. Our findings revealed a unique phenotype with highly penetrant deafness, posterior embryotoxon, and congenital heart defects but with variable expressivity in a large kindred, which demonstrates that mutation in JAG1 can cause hearing loss.

[Post-traumatic cholesteatoma of the ear: medicolegal aspect]. / Les cholestéatomes post-traumatiques de l'oreille: intérêt médico-légal.

Post-traumatic cholesteatomas pose the medicolegal problem of determining the causal link between trauma and cholesteatoma. The author reports on an observation of an antro-attical cholesteatoma that occurred ten years after a fracture of the pars petrosa. The pathogeny of the different types of post-traumatic cholesteatoma is discussed. From a study of the literature, it is possible to distinguish between cholesteatomas of the external auditory canal which are revealed relatively soon after the trauma (less than 5 years), and cholesteatomas of the middle ear that can be revealed more than 10 years after the trauma.

[Infratemporal region extension of malignant tumors of the parotid with deep development. Hypotheses on deep extension of parotid tumors according to benign or malignant characteristics]. / Propagation vers la région infra-temporale des tumeurs malignes de la parotide à évolution profonde. Hypothèses concernant la propagation en profondeur des tumeurs de la parotide en fonction de leur caractère bénin ou malin.

The infratemporal and paratonsillar regions can be the site of propagation of parotid tumors. Our personal experience with 3 cases of malignant parotid tumors extending into the infratemporal region and the study of the literature seem to show that: benign tumors, such as pleiomorphic adenomas, develop in depth towards the paratonsillar regin and not towards the infratemporal region; and conversely, malignant tumors rather invade the infratemporal regin and not the paratonsillar region. This extension occurs along the neurovascular axis through Juvara's retrocondylar buttonhole. If this notion was confirmed, it might have a semiological and therapeutic interest.

[Nervous tumors of the infratemporal fossa]. / Les tumeurs nerveuses de la fosse infra-temporale.

Six cases of neurogenic tumors developing in the infratemporal fossa are reported. These are neuromas or neurofibromas in 5 cases and meningioma in 1 case only. The first 4 cases are primary tumors of the infratemporal fossa, while the last 2 tumors have developed into the temporal fossa from neighboring lesions. Computed tomography and RMI are irreplaceable techniques to assess the extension of such tumors and their connection with the neighboring organs, and to guide the treatment, which must be surgical whenever possible. Complete exeresis of the tumor is difficult. These examinations are also essential for follow-up and for the early detection of possible recurrence.

[Pneumosinus dilatans. Long-term result of modelling osteoplasties]. / Pneumosinus dilatans. Résultat à long terme des ostéoplasties modelantes.

Pneumosinus dilatans is a rare disease characterized by an evolutive hyperpneumatization of the sinuses. The frontal sinus is most often involved, but any other sinus of the face can be affected. Three cases of pneumosinus dilatans, including two in the frontal sinus and one in the maxillary sinus, are reported. Modelling osteoplasty without drainage of the sinus was performed in all three cases and yielded satisfactory and stable results with a minimal period of observation of 5 years. The long-term effectiveness of modelling osteoplasty must be taken into account to study the physiopathology of pneumosinus dilatans. The most likely etiopathogenetic hypothesis is a disorder in the local growth of the sinus.

[Pneumolabyrinth and perilymphatic fistula after stapedectomy]. / Pneumolabyrinthe et fistule péri-lymphatique après stapédectomie.

A case of per-surgery discovery of a pneumolabyrinth referred to the oval window is reported. Such was associated with a post-stapedectomy perilymphatic fistula. Revealing clinical signs were invalidating vertigo, transmission-type hearing loss, and tinnitus. Surgical plugging of the fistula caused the dizziness spells to regress completely, as well as improving tinnitus and restoring hearing markedly. Literature data confirm the fact that pneumolabyrinths are always associated with perilymphatic fistulas. Moreover, pneumolabyrinths seem to play an important role in the genesis of cochlear signs accompanying perilymphatic fistulas.