Usher type I syndrome in children: genotype/phenotype correlation and cochlear implant benefits

OBJECTIVE: To assess the benefit of cochlear implant in children presenting an Usher type 1 syndrome (speech understanding, speech production intelligibility, academic performance) and to search any correlation between the phenotype and the genotype in this population. MATERIALS AND METHODS: Retrospective case series analysis about 13 implanted Usher type I children. Cochlear implantation was performed from 1995 to 2005. Our population was divided in three groups: group 1 (implantation between 1 and 3 years of age); group 2 (implantation between 4 and 7 years of age) and group 3 (implantation between 14 and 17 years of age). Postoperative speech perception, speech production intelligibility and education settings were evaluated. RESULTS: Molecular genetic analysis was performed in 11 patients and pathogenic mutations were identified in all cases: (mutation in myosin 7A gene in 5 cases; mutation in cadherin 23 gene in 6 cases). Four new mutations 2 in the MYO7A gene and 2 in the CDH23 gene never reported before were found. Walking delay and hearing level were not statistically correlated with the genotype abnormalities found. The speech discrimination skills, the speech production intelligibility and the academic performance were better in the group 1 children than the group 2 children after cochlear implantation. All the children of group 1 but one were in mainstreaming education. Specific language impairment was identified in two children of group 1. The group 3 children could not achieve open-set perceptive tasks after implantation--only closed-set word test can be done and their speech production remained unintelligible after cochlear implantation. CONCLUSION: Molecular analysis of Usher type I syndrome can ascertain the diagnosis in spite of the genetic heterogeneity. In this study, clinical symptoms weren't correlated with genotypic mutations. Speech discrimination skills, speech production quality, and academic performance were correlated with the age at implant.     

Early maturation of evoked otoacoustic emissions and medial olivocochlear reflex in preterm neonates

The present study was designed to investigate the early maturation of the brainstem regulation of the cochlear function in preterm neonates. Evoked otoacoustic emissions (EOAE) and their regulation via the medial olivocochlear efferent (MOC) reflex were investigated in a large population of preterm neonates and compared with full-term neonates and young babies from birth to 4 y and school-aged children. In 28-wk preterm neonates, EOAE were seen in the mid-frequency range. These responses extended both to the low (down to 1025 Hz) and high (up to 6152 Hz) frequency ranges at 38 wk of gestational age and remained stable up to 4 mo. At this stage, the amplitude of EOAE overlapped adult values. EOAE amplitudes then decreased to reach adult values at 3 y of age. Maturation of MOC efferents innervating the outer hair cells was investigated by studying the suppressive effect of contralateral sound on the EOAE amplitudes (MOC reflex). The first MOC responses were recorded in preterm neonates of 32-33 wk of gestational age, reaching adult-like values at 37 wk of gestational age. The maximum effect of MOC efferent activation occurred between 2000 and 4000 Hz. These results suggest that, in humans, MOC efferents mature in utero. Thus, testing the MOC reflex may have a clinical relevance to detect an abnormal development of the auditory pathways, particularly of a brainstem circuitry not explored through conventional testing.     

Prevention of dental trauma in a high-risk military population: the discrepancy between knowledge and willingness to comply

Military fighters are at high risk for oral/tooth injuries. Our aim was to evaluate the knowledge and willingness to use preventive measures among this population to reduce oral trauma. A total of 336 fighters were randomly assigned to two groups. The control group answered a structured questionnaire, which included questions regarding: knowledge of the benefits of mouthguard use, past/current use, and willingness to use a mouthguard. The intervention group received a 60-minute dental trauma lecture, and responded to the same questionnaire. Significantly more subjects in the intervention group were familiar with the benefits of mouthguards compared to the control group, but there was no difference between the groups in their willingness to use mouthguards routinely. Discomfort and potential interference to sport performance were the most common reasons for rejection. It seems that a structured lecture is not sufficient for ensuring usage of mouthguards in a military population. Emphasis on motivation or mandating use may be required.     

NEROFE--a novel human hormone-peptide with anti-cancer activity

We report the isolation of a novel Tumor-Cells Apoptosis Factor (Nerofe). We found that cDNA of this protein is expressed mainly in the human thymus and partially in the colon and in the frontal lobe of brain. Immunohistochemical studies localize Tumor-Cells Apoptosis Factor (TCApF) to the medulla and Hassal's corpuscles of the thymus gland, which are responsible for negative selection. Treatment of mice with induced AML terminates the cancer development and completely eliminates metastatic cell colonies from the bone marrow and the spleen that reduces probability of the cancer return. We find that TCApF binds to the T1/ST2 receptor and activates caspases 8, 9 and 3 mediated apoptosis, together with activation of JNKinase and p38 MAPKinase. Application of TCApF to cells induced apoptosis in acute myeloid leukemia proliferating cells (U937 premeyloid cells), in human breast carcinoma (MCF7), human glioblastoma, human neuroblastoma, human prostate cancer and human lung cancer proliferating cells. In contrast, TCApF was unable to induce apoptosis in non-proliferating cells. The selectivity of TCApF-induced apoptosis is related to the level of T1/ST2 receptor expression. This is the first report linking the T1/ST2 receptor to apoptosis.     

A systematic review and meta-analysis of clinical trials on physical interventions for lateral epicondylalgia

A systematic review of the literature on the effectiveness of physical interventions for lateral epicondylalgia (tennis elbow) was carried out. Seventy six randomised controlled trials were identified, 28 of which satisfied the minimum criteria for meta-analysis. The evidence suggests that extracorporeal shock wave therapy is not beneficial in the treatment of tennis elbow. There is a lack of evidence for the long term benefit of physical interventions in general. However, further research with long term follow up into manipulation and exercise as treatments is indicated.     

Intravenous immunoglobulins in peripheral neuropathy associated with vasculitis

Objective: To present patients who exhibited various inflammatory diseases accompanied with vasculitic peripheral neuropathies for which intravenous immunoglobulin (IVIg) was used for treatment. Methods: Six patients with Sjögren''s syndrome, systemic lupus erythematosus (SLE), vaccination induced vasculitis, Churg-Strauss vasculitis, mixed cryoglobulinaemia associated with hepatitis C infection, or sarcoidosis were included. All developed vasculitic peripheral neuropathy, and were treated with high dose IVIg (2 g/kg body weight). The patients were followed up for 1–5 years after this treatment. Results: In four patients (Sjögren''s syndrome, Churg-Strauss vasculitis, SLE, and vaccination induced vasculitis) the neuropathy resolved after IVIg treatment. Conclusion: IVIg may be beneficial in cases of resistant vasculitic peripheral neuropathy. IVIg should probably be considered as a sole or adjuvant treatment for patients with contraindications to conventional treatment, or alternatively, for patients in whom conventional treatment has failed.