Predicting Outcome of Congenital Cytomegalovirus Infection by Differentiating and Revisiting Severe versus Mild Prenatal Imaging Features.

Introduction: Our objective was to evaluate the outcome of fetuses with first- and second-trimester fetal cytomegalovirus infection (CMVi) according to prenatal imaging patterns, especially fetuses presenting with mild imaging features (MF), being currently of uncertain prognosis.

Material And Methods: In a retrospective study of 415 suspected CMVi cases, 59 cases were confirmed. Among prenatal imaging features, microcephaly, cortical disorder, and cerebellar hypoplasia as well as severe IUGR and fetal hydrops were considered as severe imaging features (SF).

High Heterogeneity of Temporal Bone CT Aspects in Osteogenesis Imperfecta Is Not Linked to Hearing Loss.

Objectives: To determine whether temporal bone computed tomography (CT) features are linked to the presence and type of hearing loss in osteogenesis imperfecta (OI) when considering hearing-impaired OI patients and normally hearing (NH) OI ones. A secondary objective was to assess whether other factors influence CT features in a large sample: age, type of mutation, or bone mineral density (BMD).

Methods: A total of 41 adults with OI underwent CTs and pure-tone audiometry in 82 ears.

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

We describe two sporadic and two familial cases with loss-of-function variants in PRPS1, which is located on the X chromosome and encodes phosphoribosyl pyrophosphate synthetase 1 (PRS-1). We illustrate the clinical variability associated with decreased PRS-1 activity, ranging from mild isolated hearing loss to severe encephalopathy. One of the variants we identified has already been reported with a phenotype similar to our patient's, whereas the other three were unknown.

Long-Term Cognitive Prognosis of Profoundly Deaf Older Adults After Hearing Rehabilitation Using Cochlear Implants.

Objectives: To analyze long-term cognitive status and function after cochlear implantation in profoundly deaf individuals.

Design: Prospective observational longitudinal study.

Setting: Ten academic medical centers referent for cochlear implantation.

One-Year Follow Up of Auditory Performance in Post-Lingually Deafened Adults Implanted with the Neurelec Digisonic(®) SP/Saphyr(®) Neo Cochlear Implant System.

This study aimed to quantify outcomes in a group of patients who were implanted with an Oticon Medical Neurelec (Vallauris, France) cochlear implant system, the Digisonic(®) SP/Saphyr(®) Neo. Ten participants took part in this preliminary study. Their speech perception capacities were evaluated at 3, 6, and 12-months after cochlear implant activation and compared to pre-implantation scores and to scores observed with former versions of the sound processor.

Improvement of cognitive function after cochlear implantation in elderly patients.

Importance: The association between hearing impairment and cognitive decline has been established; however, the effect of cochlear implantation on cognition in profoundly deaf elderly patients is not known.

Objective: To analyze the relationship between cognitive function and hearing restoration with a cochlear implant in elderly patients.

Design, Setting, And Participants: Prospective longitudinal study performed in 10 tertiary referral centers between September 1, 2006, and June 30, 2009.

Predictive factors of cochlear implant outcomes in the elderly.

Objective: To analyze predictive factors of cochlear implant outcomes and postoperative complications in the elderly.

Study Design: Prospective, longitudinal study performed in 10 tertiary referral centers.

Methods: Ninety-four patients aged 65-85 years with a profound, postlingual hearing loss were evaluated before implantation, at time of activation, and 6 and 12 months after cochlear implantation.

Non-USH2A mutations in USH2 patients.

We have systematically analyzed the two known minor genes involved in Usher syndrome type 2, DFNB31 and GPR98, for mutations in a cohort of 31 patients not linked to USH2A. PDZD7, an Usher syndrome type 2 (USH2) related gene, was analyzed when indicated. We found that mutations in GPR98 contribute significantly to USH2.

Strategies of active middle ear implants for hearing rehabilitation in congenital aural atresia.

Objective: To describe our surgical and audiometric experience using different active middle ear implant strategies facing various anatomic situations in aural atresia.

Study Design: Retrospective case review.

Setting: Tertiary academic referral center.

Four-year follow-up of diagnostic service in USH1 patients.

Purpose: The purpose of this study was to establish the mutation spectrum of an Usher type I cohort of 61 patients from France and to describe a diagnostic strategy, including a strategy for estimating the pathogenicity of sequence changes.

Methods: To optimize the identification of Usher (USH)-causative mutations, taking into account the genetic heterogeneity, preliminary haplotyping at the five USH1 loci was performed to prioritize the gene to be sequenced, as previously described. Coding exons and flanking intronic sequences were sequenced and, where necessary, semiquantitative PCR and multiplex ligation-dependent probe amplification (MLPA) were performed to detect large genomic rearrangements.

Speech perception performance for 100 post-lingually deaf adults fitted with Neurelec cochlear implants: Comparison between Digisonic® Convex and Digisonic® SP devices after a 1-year follow-up.

Conclusion: Patients implanted with the Digisonic® SP device showed better identification scores than those implanted with the Convex device, with skills continuing to improve over a longer time period. Technological improvements were beneficial in terms of speech perception in quiet.

Objective: To compare speech perception skills for post-lingually deaf patients implanted with a previous Neurelec device, the Digisonic® Convex, with those implanted with a more recent one, the Digisonic® SP, which provides more electrodes and a faster stimulation rate.

Otologics middle ear transducer with contralateral conventional hearing aid in severe sensorineural hearing loss: evolution during the first 24 months.

Objectives: To report the audiometric outcomes of patients with severe sensorineural hearing loss and who have been fitted with a Middle Ear Transducer (MET) on one side and fitted with an optimized conventional hearing aid on the other side.

Study Design: The MET fitting results were measured and compared with contralateral conventional hearing aids in a prospective study.

Setting: Tertiary referral center.

Screening to detect permanent childhood hearing impairment in neonates transferred from the newborn nursery.

Objectives: The focus of this report is hearing screening of newborns transferred from the regular nursery to a specialized area. The purpose of the study undertaken was: (1) to determine whether screening coverage in this population was achieved; (2) to establish whether the linkage between neonatal screening and the diagnostic follow-up was carried out correctly; (3) to better determine the incidence of permanent childhood hearing impairment (PCHI) in this at-risk population.

Methods: Six population centres averaging 12,000 births annually participated (Bordeaux, Lille, Paris, Marseille, Toulouse and Lyon).

Hydroxyapatite versus titanium ossiculoplasty.

Objective: To compare the results of ossicular chain reconstruction using hydroxyapatite (HA) and titanium (TI) prostheses.

Study Design: Retrospective study and case series.

Setting: Tertiary referral center.

Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial.

Unlabelled: A 3-year, randomized, double-blind, placebo-controlled trial evaluated the effect of oral alendronate on the BMD of 64 adult patients with osteogenesis imperfecta. The mean increases in the lumbar spine BMD were 10.1 +/- 9.

GJB2 mutations and degree of hearing loss: a multicenter study.

Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss. Because of the high frequency of GJB2 mutations, mutation analysis of this gene is widely available as a diagnostic test.