Search results for "loss"
showing 10 items of 2103 documents
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome
2010
International audience; Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical features of the Marfan syndrome (MFS) spectrum associated with mental retardation has been described in only 2/4 patients. Here we report on a 16-year-old female referred for suspicion of MFS (positive thumb and wrist sign, scoliosis, joint hyperlaxity, high-arched palate with dental crowding, dysmorphism, mitral insufficiency with dystrophic valve, striae). She had therefore 3 minor criteria according to the Ghent nosology. She also had speech …
Soothing the seizures of children.
2008
Endocannabinoids are versatile molecules, regulating a variety of functions in the body. Daniele Piomelli explores how recent clinical trials testing rimonabant, an inhibitor of endocannabinoid signaling, for weight loss emerged from studies of individuals with schizophrenia; such trials have spurred basic research into how endocannabinoids affect both energy use and mood. Beat Lutz and Krisztina Monory examine how rimonabant might prove useful for preventing the development of adult epilepsy in response to fever-induced seizures in infants and young children.
Otosclerosis associated with type B-1 inner ear malformation
2010
Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearing loss. Differential diagnosis of conductive hearing loss should include otosclerosis, isolated ossicular deformities, inner ear anomalies or a combination of these. In this report, a case is described with right vestibule-lateral semicircular canal dysplasia presenting at our centre with bilateral ot…
A Novel Loss-of-Function Mutation (N48K) in the PTEN Gene in a Spanish Patient with Cowden Disease
2003
Cowden disease, also known as multiple hamartoma syndrome, is a rare disease inherited in an autosomal dominant pattern, which confers a high risk of developing breast and thyroid carcinomas. Mutations in PTEN, a tumor suppressor gene located on chromosome 10q23, have been identified in patients with Cowden disease. In this work, the direct sequencing of all coding regions of the PTEN gene led us to the identification of N48K, a new germline PTEN missense mutation, in a patient suffering from Cowden disease. The genetic analysis of 200 chromosomes from healthy individuals revealed that the variant was not common in our population. Moreover, by functional analysis we found that the ability o…
Intratumoral Haemorrhage Causing an Unusual Clinical Presentation of a Vestibular Schwannoma
2012
We present a case of an elderly woman with no history of audiological disease with sudden onset of visual and hearing deficits associated with systemic clinical signs. On examination she had impairment of right CNs from V to X. CT and MR imaging demonstrated a cystic vestibular schwannoma with a rare intralesional fluid-fluid level correlated to a recent bleed. We include high quality MR images to show the acute impairment of the cranial nerves next to the tumour after acute bleeding. Our case report includes a voxel-based morphometry (VMB) analysis of the tumour that, as far as we know, has never been done before for such a tumour. VBM analysis was performed to calculate the hypothesized …
Peri‐implant marginal bone loss reduction with platform‐switching components: 5‐Year post‐loading results of an equivalence randomized clinical trial
2019
Abstract Aim To compare the clinical performance and marginal bone levels of implants restored with platform‐switching (PS) or platform‐matching (PM) abutments. Materials and Methods Adult patients missing two or more adjacent teeth in the posterior mandible received 2–4 CAMLOG SCREW‐LINE implants and were randomly allocated to the PM or PS group, receiving the corresponding prosthetic components from surgery onwards. Implants were conventionally loaded with single cemented crowns. Patients were followed annually for 5 years. Outcome measures were marginal bone level changes, implant survival, performance of the prosthetic components and clinical parameters plaque index, sulcus bleeding ind…
Distribution and phenotype ofGJB2mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss
2014
Objective: To evaluate the frequency of GJB2 mutations and their correlation with phenotype in Sicilian non-syndromic sensorineural hearing loss (NSHL) patients. Design: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. Study sample: A cohort of 102 Sicilian NSHL patients. Results: Fifteen different mutations in GJB2 and seventeen different genotypes were detected. No GJB6 mutations were found. The hearing impairment was profound in the 64.72% of probands (mean PTA 0.25 – 4 kHz of 88.82 26.52 dB HL). A total of 81.37% of patients harboured at least one c.35delG allele; c.167delT and c…
Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family
2013
The main purpose of this study was to describe a novel missense mutation (p.D179H) found in a Western Sicily family and to examine the genetic and audiologic profiles of all family members by performing a GJB2 and GJB6 mutations analysis and a complete audiologic assessment. The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G[C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. It was also evidenced in the heterozygous state in two members of th…
Speech perception performance as a function of stimulus pulse rate and processing strategy preference for the Cochlear™ Nucleus®CI24RE device: Relati…
2010
Current cochlear implants can operate at high pulse rates. The effect of increasing pulse rate on speech performance is not yet clear. Habituation to low rates may affect the outcome. This paper presents the results of three subsequent studies using different experimental paradigms, applying the Nucleus CI24RE device, and conducted by ten European implant teams. Pulse rate per channel varied from 500 to 3500 pulses per second with ACE and from 1200 to 3500 pps with CIS strategy. The results showed that the first rate presented had little effect on the finally preferred rate. Lower rates were preferred. The effect of pulse rate on word scores of post-linguistic implantees was small; high rat…
Analysis of Fifty-Six Cochlear Implant Device Failures
2008
<i>Objective:</i> Our aim was to present a failure analysis after cochlear implant revision surgery in a large series of children and adults and to assess the outcome and audiologic performance. <i>Methods:</i> Fifty-six cochlear implant failures that occurred in 422 devices implanted between 1990 and 2007 at the Department of Otolaryngology, Head and Neck Surgery at the University of Mainz, Germany, were retrospectively analyzed. The causes of failure were reviewed evaluating the individual history, telemetric and intraoperative findings and manufacturer’s investigation reports. <i>Results:</i> We performed 56 surgical revisions in a series of 422 consec…