Diagnosis of Single- or Multiple-Canal Benign Paroxysmal Positional Vertigo according to the Type of Nystagmus

Benign paroxysmal positional vertigo (BPPV) is a common peripheral vestibular disorder encountered in primary care and specialist otolaryngology and neurology clinics. It is associated with a characteristic paroxysmal positional nystagmus, which can be elicited with specific diagnostic positional maneuvers, such as the Dix-Hallpike test and the supine roll test. Current clinical research focused on diagnosing and treating various types of BPPV, according to the semicircular canal involved and according to the implicated pathogenetic mechanism. Cases of multiple-canal BPPV have been specifically investigated because until recently these were resistant to treatment with standard canalith repositioning procedures. Probably, the most significant factor in diagnosis of the type of BPPV is observation of the provoked nystagmus, during the diagnostic positional maneuvers. We describe in detail the various types of nystagmus, according to the canals involved, which are the keypoint to accurate diagnosis

Transiently Evoked Otoacoustic Emissions in Children with Otitis Media with Effusion

Introduction. Otitis media with effusion is a common pediatric disease whose diagnosis is based on pneumatic otoscopy, pure-tone audiometry, and tympanometry. The aim of this study was to evaluate transiently evoked otoacoustic emissions in the diagnosis of otitis media with effusion as compared to tympanometry. Patients and Methods. 38 children with bilateral otitis media with effusion were studied. 40 normal children of similar age and sex were used as controls. All subjects underwent pneumatic otoscopy, standard pure-tone audiometry, tympanometry, and transiently evoked otoacoustic emissions. Results. In the group of children with bilateral otitis media, transiently evoked otoacoustic emissions were absent in 51 ears (67%). In the remaining 25 ears (33%) the mean emission amplitude was reduced, as compared to the mean value of the control group. Conclusions. Transiently evoked otoacoustic emissions should be included in the diagnostic workup of otitis media with effusion because it is a fast, reliable, and objective test. Transiently evoked otoacoustic emissions should always be used in conjunction with tympanometry, because a more meaningful interpretation of transiently evoked otoacoustic emissions measures is possible

Study of Allergic Rhinitis in Childhood

Allergic rhinitis is common among children and quite often represents a stage of the atopic march. Although sensitization to food and airborne allergens may appear in infancy and early childhood, symptoms of the disease are usually present after age 3. The aim of this study was to determine the most frequent food and indoor and outdoor respiratory allergens involved in allergic rhinitis in children in the region of Piraeus. The study was performed in the outpatient clinic of otolaryngologic allergy of a general hospital. Fifty children (ranged 6–14 ) with symptoms of allergic rhinitis and positive radioallergosorbent test (RAST) for IgE antibodies or skin prick tests were included in the study. Thirty six (72%) of the subjects of the study had intermittent allergic rhinitis. The most common aeroallergens determined were grass pollens and Parietaria, whereas egg and milk were the food allergens identified. The detection of indoor and outdoor allergens in the region of Piraeus, based on skin prick tests and RAST tests, showed high incidence of grasses and food allergens, which is similar to other Mediterranean countries

Cement leakage in a symptomatic vertebral hemangioma: a case report and review of the literature

We present the case of a 50-year-old male with consistent back pain, not resolving with conservative treatment. Plain radiograms demonstrated a lytic lesion at the level of the 8th thoracic vertebra. Thorough examination with computerized tomography and magnetic resonance imaging revealed a hemangioma extending to the posterior third of the vertebral body, compressing the spinal cord at the level of 8th thoracic vertebra. A percutaneous vertebroplasty was performed. The post-operative computerized tomography scan demonstrated cement leakage. After thorough cement removal combined with extensive decompression and posterior stabilization, the patient reported gradual improvement of his symptoms and was able to return successfully to his work a few months later

Detection of Deafness-Causing Mutations in the Greek Mitochondrial Genome

Mitochondrion harbors its own DNA, known as mtDNA, encoding certain essential components of the mitochondrial respiratory chain and protein synthesis apparatus. mtDNA mutations have an impact on cellular ATP production and many of them are undoubtedly a factor that contributes to sensorineural deafness, including both syndromic and non-syndromic forms. Hot spot regions for deafness mutations are the MTRNR1 gene, encoding the 12S rRNA, the MTTS1 gene, encoding the tRNA for Ser(UCN), and the MTTL1 gene, encoding the tRNA for Leu(UUR). We investigated the impact of mtDNA mutations in the Greek hearing impaired population, by testing a cohort of 513 patients suffering from childhood onset prelingual or postlingual, bilateral, sensorineural, syndromic or non-syndromic hearing loss of any degree for six mitochondrial variants previously associated with deafness. Screening involved the MTRNR1 961delT/insC and A1555G mutations, the MTTL1 A3243G mutation, and the MTTS1 A7445G, 7472insC and T7510C mutations. Although two patients were tested positive for the A1555G mutation, we failed to identify any subject carrying the 961delT/insC, A3243G, A7445G, 7472insC, or T7510C mutations. Our findings strongly support our previously raised conclusion that mtDNA mutations are not a major risk factor for sensorineural deafness in the Greek population

Detection of deafness-causing mutations in the Greek mitochondrial genome

Mitochondrion harbors its own DNA, known as mtDNA, encoding certain essential components of the mitochondrial respiratory chain and protein synthesis apparatus. mtDNA mutations have an impact on cellular ATP production and many of them are undoubtedly a factor that contributes to sensorineural deafness, including both syndromic and non-syndromic forms. Hot spot regions for deafness mutations are the MTRNR1 gene, encoding the 12S rRNA, the MTTS1 gene, encoding the tRNA for Ser((UCN)), and the MTTL1 gene, encoding the tRNA for Leu((UUR)). We investigated the impact of mtDNA mutations in the Greek hearing impaired population, by testing a cohort of 513 patients suffering from childhood onset prelingual or postlingual, bilateral, sensorineural, syndromic or non-syndromic hearing loss of any degree for six mitochondrial variants previously associated with deafness. Screening involved the MTRNR1 961delT/insC and A1555G mutations, the MTTL1 A3243G mutation, and the MTTS1 A7445G, 7472insC and T7510C mutations. Although two patients were tested positive for the A1555G mutation, we failed to identify any subject carrying the 961delT/insC, A3243G, A7445G, 7472insC, or T7510C mutations. Our findings strongly support our previously raised conclusion that mtDNA mutations are not a major risk factor for sensorineural deafness in the Greek population

Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?

Hearing impairment is a frequent condition, and genes have an important role in its etiology. The majority of hearing loss occurs in non-syndromic form, with deafness being the only clinically recognizable feature. More than 60 nuclear genes or loci have been shown to be involved in non-syndromic hearing loss, but mutations in mitochondrial DNA also cause hearing impairment. Mitochondrial DNA mutations usually lead to progressive hearing loss with an age of onset varying from childhood to early adulthood. It is interesting to note that there is a great variability among phenotypes between individuals harboring the same mitochondrial mutation, even within the same family, and the phenotype may range from profound deafness to completely normal hearing. In the past years, the debate on mitochondrial mutations has been about the penetrance, the tissue specificity and the mechanisms of modifier genes that can modulate the severity of the phenotypic expression of the deafness-associated mitochondrial DNA mutations. Here we summarize evidence regarding modifying genes, and we discuss the effect of the coexistence of mitochondrial and GJB2 mutations in families reported to date. Journal of Human Genetics (2010) 55, 265-269; doi:10.1038/jhg.2010.23; published online 19 March 201