Dysarthria and dysphagia following treatment for a fourth ventricle choroid plexus papilloma

The present case report describes the presence of a persistent dysarthria and dysphagia as a consequence of surgical intervention for a choroid plexus papilloma (CPP). WM was a nine year ten month old male who at the time of the present study was seven years post-surgery. A comprehensive perceptual and instrumental test battery was used to document the nature of the dysarthria incorporating all components of speech production including respiration, phonation, resonance, articulation, and prosody. The nature of the dysphagia was evaluated through the use of videofluoroscopic evaluation of swallowing (VFS). Assessments confirmed the presence of a LMN dysarthria, marked by deficits in phonation, respiration, and prosody. Dysphagia assessment revealed deficits in oral preparatory, oral and pharyngeal stages of the swallow. The presence of persistent dysarthria and dysphagia in this case has a number of important implications for the management of children undergoing surgery for fourth ventricle CPPs, in particular the need for appropriate treatment, as well as counselling prior to surgery of the possible negative outcomes related to speech and swallowing. (C) 2003 Elsevier Science Ltd. All rights reserved.

Acoustic analysis of speech through a hearing aid: perceptual effects of changes with two-channel compression

Compression amplification significantly alters the acoustic speech signal in comparison to linear amplification. The central hypothesis of the present study was that the compression settings of a two-channel aid that best preserved the acoustic properties of speech compared to linear amplification would yield the best perceptual results, and that the compression settings that most altered the acoustic properties of speech compared to linear would yield significantly poorer speech perception. On the basis of initial acoustic analysis of the test stimuli recorded through a hearing aid, two different compression amplification settings were chosen for the perceptual study. Participants were 74 adults with mild to moderate sensorineural hearing impairment. Overall, the speech perception results supported the hypothesis. A further aim of the study was to determine if variation in participants' speech perception with compression amplification (compared to linear amplification) could be explained by the individual characteristics of age, degree of loss, dynamic range, temporal resolution, and frequency selectivity; however, no significant relationships were found.

The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes

We have examined melanocortin-1 receptor (MC1R) variant allele frequencies in the general population and in a collection of adolescent dizygotic and monozygotic twins to determine statistical associations of pigmentation phenotypes with increased skin cancer risk. This included hair and skin color, freckling, mole count and sun exposed skin reflectance. Nine variants were studied and designated as either strong R (OR = 63; 95% CI 32-140) or weak r (OR = 5; 95% CI 3-11) red hair alleles. Penetrance of each MC1R variant allele was consistent with an allelic model where effects were multiplicative for red hair but additive for skin reflectance. To assess the interaction of the brown eye color gene BEY2/OCA2 on the phenotypic effects of variant MC1R alleles we imputed OCA2 genotype in the twin collection. A modifying effect of OCA2 on MC1R variant alleles was seen on constitutive skin color, freckling and mole count. In order to study the individual effects of these variants on pigmentation phenotype we have established a series of human primary melanocyte strains genotyped for the MC1R receptor. These include strains which are MC1R wild-type consensus, variant heterozygotes, and homozygotes for strong R alleles Arg151Cys and Arg160Trp. Ultrastructural analysis demonstrated that only consensus strains contained stage III and IV melanosomes in their terminal dendrites whereas Arg151Cys and Arg160Trp homozygous strains contained only immature stage I and II melanosomes. Such genetic association studies combined with the functional analysis of MC1R variant alleles in melanocytic cells should provide a link in understanding the association between pigmentary phototypes and skin cancer risk.

Screening of human primary melanocytes of defined melanocortin-1 receptor genotype: Pigmentation marker, ultrastructural and UV-survival studies

Recent population studies have demonstrated an association with the red-hair and fair-skin phenotype with variant alleles of the melanocortin-1 receptor (MC1R) which result in amino acid substitutions within the coding region leading to an altered receptor activity. In particular, Arg151Cys, Arg160Trp and Asp294His were the most commonly associated variants seen in the south-east Queensland population with at least one of these alleles found in 93% of those with red hair. In order to study the individual effects of these variants on melanocyte biology and melanocytic pigmentation, we established a series of human melanocyte strains genotyped for the MC1R receptor which included wild-type consensus, variant heterozygotes, compound heterozygotes and homozygotes for Arg151Cys, Arg160Trp, Val60Leu and Val92Met alleles. These strains ranged from darkly pigmented to amelanotic, with all strains of consensus sequence having dark pigmentation. UV sensitivity was found not to be associated with either MC1R genotype or the level of pigmentation with a range of sensitivities seen across all genotypes. Ultrastructural analysis demonstrated that while consensus strains contained stage IV melanosomes in their terminal dendrites, Arg151Cys and Arg160Trp homozygote strains contained only stage II melanosomes. This was despite being able to show expression of tyrosinase and tyrosinase-related protein-1 markers, although at reduced levels and an ability to convert exogenous 3,4-dihydroxyphenyl-alanine (DOPA) to melanin in these strains.

Alcohol and other drug use disorders among older-aged people

In Australia people aged 65 years or older currently comprise 12.1% of the population. This has been estimated to rise to 24.2% by 2051. Until recently there has been relatively little research on alcohol and other drug use disorders among these individuals but, given the ageing population, this issue is likely to become of increasing importance and prominence. Epidemiological research shows a strong age-related decline in the prevalence of alcohol and other drug use disorders with age. Possible reasons for this include: age-related declines in the use and misuse of alcohol and other drugs; increased mortality among those with a lifetime history of alcohol and other drug use disorders; historical differences in exposure to and use of alcohol and other drugs. Despite the age-related decline in the prevalence of these disorders, they do still occur among those aged 65 years or older and, given historical changes in exposure to and use of illicit drugs, it likely that the prevalence of these disorders among older-aged individuals will rise. Specific issues faced by older-aged individuals with alcohol and other drug use problems are discussed. These include: interactions with prescribed medications, under-recognition and treatment of alcohol and drug problems, unintentional injury and social isolation. Finally, a brief discussion of treatment issues is provided.

Will chymase inhibitors be the next major development for the treatment of cardiovascular disorders?

Chymase is contained in the secretory granules of mast cells. In addition to the synthesis of angiotensin II, chymase is involved in transforming growth factor-beta activation and cleaves Type I procollagen to produce collagen. NK301 and BCEAB are orally-active inhibitors of chymase. NK301 was tested in a dog model of vascular intimal hyperplasia after balloon injury and shown to reduce the increased chymase activity in the injured arteries and prevent intimal thickening. In a hamster model of cardiac fibrosis associated with cardiomyopathy, BCEAB reduced the increased cardiac chymase activity in cardiomyopathy and reduced fibrosis. Chymase inhibitors may be an important development for the treatment of cardiovascular injury associated with mast cell degranulation.

Expression of ephs and ephrins in developing mouse inner ear

Levels of expression of mRNAs encoding the different Ephs and ephrins were measured by semi-quantitative reverse-transcription polymerase chain reaction in developing mouse whole inner ears, and in dissected fractions of the neonatal mouse inner ear. Nineteen of the 24 known Ephs and ephrins were surveyed. The results showed that between embryonic age (E) 11.5 days and E12.5, levels increased 10-300 times per unit of tissue. In neonatal mice, the fraction containing combined organ of Corti and spiral ganglion showed relatively strong expression of EphA4, EphB3, ephrin-A3, ephrin-B2 and ephrin-B3. In the lateral wall, EphA4, ephrin-A3 and ephrin-B2 were strongly expressed, while ephrin-A3 was particularly strongly expressed in utricular and saccular sensory epithelia. The results suggest that the Ephs and ephrins are likely to play a part in the differentiation of the structures of the inner ear, and show which Ephs and ephrins are most likely to play important roles in the different structures. (C) 2003 Elsevier Science B.V. All rights reserved.

Electropalatographic assessment of tongue-to-palate contacts exhibited in dysarthria following traumatic brain injury: Spatial characteristics

Consonant imprecision has been reported to be a common feature of the dysarthric speech disturbances exhibited by individuals who have sustained a traumatic brain injury (TBI). Inaccurate tongue placements against the hard palate during consonant articulation may be one factor underlying the imprecision. To investigate this hypothesis, electropalatography (EPG) was used to assess the spatial characteristics of the tongue-to-palate contacts exhibited by three males (aged 23-29 years) with dysarthria following severe TBI. Five nonneurologically impaired adults served as control subjects. Twelve single-syllable words of CV or CVC construction (where initial C = /t, d, S, z, k, g/, V=/i, a/) were read aloud three times by each subject while wearing an EPG palate. Spatial characteristics were analyzed in terms of the location, pattern, and amount of tongue-to-palate contact at the frame of maximum contact during production of each consonant. The results revealed that for the majority of consonants, the patterns and locations of contacts exhibited by the TBI subjects were consistent with the contacts generated by the group of control subjects. One notable exception was one subject's production of the alveolar fricatives in which complete closure across the palate was demonstrated, rather than the characteristic groove configuration. Major discrepancies were also noted in relation to the amount of tongue-to-palate contact exhibited, with two TBI subjects consistently demonstrating increased contacts compared to the control subjects. The implications of these findings for the development of treatment programs for dysarthric speech disorders subsequent to TBI are highlighted.

EMA analysis of tongue function in children with dysarthria following traumatic brain injury

Primary objective : To investigate the speed and accuracy of tongue movements exhibited by a sample of children with dysarthria following severe traumatic brain injury (TBI) during speech using electromagnetic articulography (EMA). Methods and procedures : Four children, aged between 12.75-17.17 years with dysarthria following TBI, were assessed using the AG-100 electromagnetic articulography system (Carstens Medizinelektronik). The movement trajectories of receiver coils affixed to each child's tongue were examined during consonant productions, together with a range of quantitative kinematic parameters. The children's results were individually compared against the mean values obtained by a group of eight control children (mean age of 14.67 years, SD 1.60). Main outcomes and results : All four TBI children were perceived to exhibit reduced rates of speech and increased word durations. Objective EMA analysis revealed that two of the TBI children exhibited significantly longer consonant durations compared to the control group, resulting from different underlying mechanisms relating to speed generation capabilities and distances travelled. The other two TBI children did not exhibit increased initial consonant movement durations, suggesting that the vowels and/or final consonants may have been contributing to the increased word durations. Conclusions and clinical implications : The finding of different underlying articulatory kinematic profiles has important implications for the treatment of speech rate disturbances in children with dysarthria following TBI.