<p>Positional cloning is a method to identify genes from their position in the genome without prior knowledge about function. We used this approach to investigate the basis for three distinct genetic disorders; Obesity, Ichthyosis Prematurity Syndrome and Meniere's disease.</p><p>Obesity appears when energy intake exceeds energy expenditure which leads to an abnormal accumulation of fat in the adipocyte tissue. We have studied a family with a balanced chromosomal translocation t(4;15) segregating with severe obesity. The chromosomal breakpoints create a fusion gene involving the gene for isoform 1 of RAR-related orphan receptor A (<i>RORa1</i>) which is implicated in the regulation of adipogenesis and lipoprotein metabolism. We hypothesize that the obesity in this family is caused by haploinsufficiency of this gene or a gain of function of the fusion gene.</p><p>Ichthyosis prematurity syndrome (IPS) is a rare skin disorder belonging to a group of autosomal recessive congenital ichthyosis. We have mapped the locus for IPS to chromosome 9q34. Within the IPS locus, we identified a core haplotype with a high carrier frequency among affected, which indicate a possible founder mutation for the disease. The minimal shared region in affected patients contains seven genes which are candidates for IPS.</p><p>Meniere's disease (MD) is characterised by spontaneous attacks of vertigo, fluctuating sensorineural low frequency hearing loss, aural fullness, and tinnitus. We mapped the MD locus to chromosome 12p13 using three Swedish families. The linked region is 463 kb, containing only one gene, a phosphoinositide-3-kinase (<i>PIK3C2G</i>). Involvement of phosphatidylinositol 3-kinases (PI-3K) in the intra cellular signalling cascades of cells in mammalian balance epithelia makes this gene a good candidate gene for MD.</p>

Positional cloning is a method to identify genes from their position in the genome without prior knowledge about function. We used this approach to investigate the basis for three distinct genetic disorders; Obesity, Ichthyosis Prematurity Syndrome and Meniere's disease. Obesity appears when energy intake exceeds energy expenditure which leads to an abnormal accumulation of fat in the adipocyte tissue. We have studied a family with a balanced chromosomal translocation t(4;15) segregating with severe obesity. The chromosomal breakpoints create a fusion gene involving the gene for isoform 1 of RAR-related orphan receptor A (RORa1) which is implicated in the regulation of adipogenesis and lipoprotein metabolism. We hypothesize that the obesity in this family is caused by haploinsufficiency of this gene or a gain of function of the fusion gene. Ichthyosis prematurity syndrome (IPS) is a rare skin disorder belonging to a group of autosomal recessive congenital ichthyosis. We have mapped the locus for IPS to chromosome 9q34. Within the IPS locus, we identified a core haplotype with a high carrier frequency among affected, which indicate a possible founder mutation for the disease. The minimal shared region in affected patients contains seven genes which are candidates for IPS. Meniere's disease (MD) is characterised by spontaneous attacks of vertigo, fluctuating sensorineural low frequency hearing loss, aural fullness, and tinnitus. We mapped the MD locus to chromosome 12p13 using three Swedish families. The linked region is 463 kb, containing only one gene, a phosphoinositide-3-kinase (PIK3C2G). Involvement of phosphatidylinositol 3-kinases (PI-3K) in the intra cellular signalling cascades of cells in mammalian balance epithelia makes this gene a good candidate gene for MD.

Professional research project (Au.D.)--University of South Florida, 2000. / Title from PDF of title page. / Document formatted into pages; contains 48 pages. / Includes bibliographical references. / Text (Electronic thesis) in PDF format. / ABSTRACT: The primary objective of the project was to survey recognized "experts" in the field of neurodiagnostic audiology and practicing audiologists regarding their referral criteria and referral patterns for administering an auditory brainstem response test (ABR). For purposes of this study, "expert" was defined as any recognized audiologist with at least two or more publications and/or seminarsin the field of auditory evoked potentials. / Responses of experts and practicing audiologists were compared and contrasted to establish: a) if there was a standard referral pattern; b) what, if any, were the apparent critical components of referral patterns; and, c) whether or not current practice reflected the utilization of such critical components. The survey was designed to establish whether the respondent was practicing, in what type of practice setting, and how often ABRs were performed. Specificity and sensitivity of ABR outcomes was also requested. / The survey was administered verbally, via telephone, to 3 experts and was sent via e-mail to 178 randomly selected audiologists in the United States. Of the latter 53 returned, 38 reported conducting ABRs. Thus, data analysis was reported on 38 respondents. The survey results did not reveal a consistent standard referral pattern. Critical components for referral were hypothesized based on the "expert" majority response. These include ABR referral based on the presence of: (1) asymmetric sensorineural hearing loss; (2) unilateral tinnitus; (3) positive reflex decay; and, (4) word recognition rollover. The majority of "non-expert" practitioners surveyed reported that these symptoms warranted consideration for referral, thus reflecting utilization of apparent critical components. / System requirements: World Wide Web browser and PDF reader. / Mode of access: World Wide Web.

碩士 / 中國醫藥學院 / 中國藥學研究所 / 89 / Gusuibu has now been used is one of the most usually in Chinese medicine，the rhizoma of Gusuibu was used for invigorate the kidney and strengthen bones、restore the tendons and alleviate pain、cure for lambago due to asthenia of kidney、tinnitus and deafness、toothache、sudden sprain and contusion due to trauma、sprain of extremities；topical application is used for alopecia areata，seborrheic etc。 The botanical origin of rhizoma derivated of Gusuibu should be incould Drynaria fortunei (KUNZE) J. SMITH(fam. polypodiaceae)。Through collection、research and identification of Gusuibu in Taiwan，six species were find is Drynaria fortunei (KUNZE) J. SMITH (fam. polypodiaceae)，Pseudodrynaria coronans (WALLICH) CHING (fam. polypodiaceae)，Davallia divaricata BLUME (fam. Davalliaceae)、Davallia mariesii MOORE ex BAKER (fam. Davalliaceae)、Davallia solida (FORST) SWARTZ (fam. Davalliaceae) and Humata griffithiana (HOOKER) C. CHRISTENSEN(fam. Davalliaceae)。 As many kind of Gusuibu(and their substitutes) can not be clearly distinguished，this research herefore Proceed anatomical exemination to carry out this work，histological observation by micr oscopically examination and draw the powder structure firguer，research、collection the botanical origin of rhizoma of Gusuibu and sold on the market，the data obtained from histological examinations of Gusuibu rhizoma will be benefical to the idetification of botanical origins of Gusuibu and the development of Chinese crude drug resources in Taiwan。

碩士 / 嘉南藥理科技大學 / 化妝品科技研究所 / 94 / Abstract The application of herb natural products as a component of the cosmetic products is a trend at present in the cosmetics industry. A traditional Chinese medicine (TCM), Morus alba has a long history to treat humans diseases, which were reported such as tonic for blood and yin, and treatment of vertigo, tinnitus, insomnia with palpitation, weak digestion, premature white hair, thirst, diabetes with heat, and diarrhea with blood deficient. In our present study, formosan folk medicine–M. Australis was investigated its whitening effect via the anti-tyrosinase assay and radical scavenging. Moreover, the comparison on the HPLC profiles of the extracts of M. australis’ MADC、MADM、 MⅠM、MⅡM、MⅢM and MⅣM was included in our study. We further separated the plant of M. australis into different parts, as leaves, branch (young twigs), branch-bark, stem, stem-bark, and unripe fruits to explore their inhibitory effects toward tyrosinase in contrast to the whitening effect of the commercial TCM drug, Son-Pai-Pi, the root-bark of M. alba. Our results indicated that the extracts of M. australis’ MADM showed the inhibitory ratio toward typrosinase up to 90%, whereas the extract of Son-Pai-Pi did not show inhibitory toward tyrosinase. As for radical scavenging, DPPH, TEAC methods were conducted. It shows that the minimum inhibition concentrations by MADM, MAⅠM, MAⅡM , and MAⅢM are (1) 31, 187, 249,77 μg /ml respectively for DPPH SC50, (2) MADM is 15.6 μg /ml for TEAC SC50. Based on our results, the MADM extracts of M. australis could be regarded as a component of a cosmetic product with whitening function. However, more detailed studies on the bioactive components of these extracts are necessary.

碩士 / 國立高雄師範大學 / 溝通障礙教育研究所 / 92 / This study is purposed to investigate the relationship between hearing loss and handicap in senior adults with prebycusis, relationships between non-audiometric variables and self-report hearing handicap, relationships between audiometric variables and self-report hearing handicap, and to formulate a multiple regression analysis equation in estimating the degree of hearing handicap. Hopefully, the questionnaire will be adopted either by the medical institutions or social welfare organizations, as well as being used as an outcome measurement tool for the efficacy of aural rehabilitation programs. Subjects were 148 prebycusis senior adults, aged above 65. Data of non- audiometric variables were collected from them. Subjects filled out four questionnaires. Thirty subjects were then randomly selected to collect their audiometric data. Results are summarized as below: A. Analysis based on data from 148 objects： High correlations were observed among three kinds of self-reported hearing handicap questionnaires (p<.001). It reveals that these questionnaires could be used in estimating severity of hearing handicap for elders. B. Analysis based on data from 30 objects： 1. Among six audiometric variables, scores in word discrimination test and “Hearing Performance Inventory for The Elderly” gave the highest correlation coefficient, and it could explain 36.24 % variance in “Hearing Performance Inventory for The Elderly”. All the hearing variables could explain less than 40 % variance. 2. The five non-audiometric variables, including “desires to purchase the hearing aids”, “mental condition”, “age on the hearing impairment”, “nimbleness of fingers”, and “tinnitus condition” could explain 81.6 % of the variance in “Hearing Performance Inventory for The Elderly”.

Ménière’s disease (MD) is an idiopathic inner ear disorder, characterised by episodes of vertigo, tinnitus, sensorineural hearing loss, and aural fullness in the affected ear. The relatively high variability of symptomological changes renders it difficult to confirm the MD diagnosis. The purpose of this study is to compare the diagnostic power of an instrumental method, electrocochleography (ECochG), and two subjective methods, including the criteria based on the clinical guidelines provided by the American Academy of Otolaryngology-Head and Neck Surgery Committee on Hearing Equilibrium (AAO-HNS CHE) and Gibson’s Score. A quota sampling method was used to include subjects. A total of 250 potential MD patients who were referred to the Department of Otolaryngology at the Christchurch Hospital between year 1994 and 2009 have had their signs and symptoms documented and ECochG testing completed. A selection of details obtained from both AAO-HNS CHE and ECochG assessment results were examined as a chart review in regard to its function as a diagnostic tool for MD. The between-method reliability was found to be high, with a few disagreements on individual diagnosis. Based on a receiver operating characteristic (ROC) curve analysis, the ECochG measures were shown to be pertinent to the diagnosis of MD. It was also found that patients tested “positive”, as compared with those tested “negative”, tended to show higher correlations among the four key symptoms of MD and among the ECochG measures derived from the auditory evoked responses to tone bursts at frequencies in close proximity to each other.

博士 / 國立高雄師範大學 / 特殊教育學系 / 104 / PURPOSE: The aim is to study effectiveness of questionnaires to enhance the detection of noise induced threshold shift (NITS) and to formulate odd ratios on the established risk factors in the young school children population. SUBJECTS: In Tier 1 of the study, the prevalence of NITS was studied amongst 1005 3rd -9th graders, in which consist of active noisy Battle Array participants , recruited from schools in KaoHsiung City. While in Tier 2 of the study, both NITS Screening and High-Risk Group Questionnaires were collected in 1050 students and their audiometric status measured. METHODS: Three types of NITS criteria were applied to define the subject students’ audiometric status, and statistical descriptions outlined. Chi-square performed to delineate the significant factors and then Odd ratio performed. The weighting of each factors was analysed with multivariate regression methods and outcomes described. RESULTS: Prevalence of 2.19%, 18.33% and12.9% of NITS subjects found when Niskar, Lin and Henderson’s NITS criteria were applied in our study, respectively. The prevalence observed in our study was vastly different from the literature, i.e. 12.5% by Niskar et al. Frequent involvement in noisy activity had no effect on NITS prevalence. Analysis of both questionnaires yielded ten correlated factors that might improve the outcome on NITS survey. Higher grade boys who have problems in speech reception in noise, sound lateralization and loudness perception were running at a higher risk of NITS. Impaired auditory symptoms that often presented in adults, such as tinnitus and hyperacusis, were not observed in children. CONCLUSION: In order to properly implement a hearing screening program, consensus on the NITS criteria must be made due to discrepancies in prevalence amongst different definitions. Pure tone audiometry is still the mainstay of method but screening questionnaire might help to highlight the at-risk group, who are make awared of their own hearing health. Regular hearing tests can be considered. Tests that reveal cochlear pathology, such as speech discrimination test, can be considered to improve early detection of NITS.

M.Tech. (Homoeopathy) / Acute tonsillitis is inflammation of the tonsils, caused by a bacterial or viral infection. In most cases it is caused by a viral infection (Clarence & Sasaki, 2008), which is a common cause of upper respiratory tract infections in children (Baker et al., 2012). Tonsillitis is one of the most common causes of absenteeism in school children, which affects school performance (De Martino & Ballotti, 2007). Conventional treatment for viral tonsillitis include anti-inflammatory drugs, which does not actively treat the condition and may cause side effects (Clarence & Sasaki, 2008; Cocazza et al., 2001; Roxane & Nahata, 2006) such as bruising, skin rash, tinnitus, oedema, dyspepsia, depression, nervousness, insomnia, pruritis, visual disturbance, renal failure and gastrointestinal irritation which can result in bleeding (Rainsford, 2003; Scherer, 2012; Snyman, 2007). Tonzolyt® is a commercially available homoeopathic complex remedy indicated for both acute and chronic tonsillitis and sore throat. However, there is a lack of research to support its effectiveness (Herbaforce, 2010). The aim of this study was to determine the efficacy of the homoeopathic complex Tonzolyt® on the symptoms of acute tonsillitis in black children attending a primary school in Gauteng. A Wong-Baker Face Pain Rating Scale measured pain intensity and a modified Semi-quantitative Basis Scale assessed changes in signs and symptoms of tonsillitis. This was a double-blind, placebo-controlled study conducted over six days with daily follow-up assessments. Thirty participants, aged 6-12 years, suffering from acute viral tonsillitis, were recruited from a primary school in Gauteng. Parents / guardians were informed about the study by means of a letter (Appendix H). Attached to the letter there was an information form (Appendix A), as well as a Participant Profile form (Appendix D) to fill in, and a consent form (Appendix B) to sign. Parents / guardians and teachers were requested to refer children who showed signs of tonsillitis to the researcher. The researcher was available on the school premises on...

A reabilitação vestibular sofre influências das doenças metabólicas na resposta final do tratamento. Os processos sistêmicos podem afetar negativamente na adaptação vestibular, levando a uma resposta parcial ou ainda ausência de resposta. Este estudo caracterizou a tontura de origem metabólica em pacientes tratados com reabilitação vestibular, identificando aspectos auditivos, otoneurológicos e aspectos da doença metabólica envolvida. O procedimento da pesquisa foi baseado em análise de questionários de pacientes com diagnóstico de tontura de origem metabólica, entre os anos de 2002 a 2014. Os resultados revelaram a ocorrência de doenças metabólicas em 55%(N=55) da população com a diabetes sendo a principal (N=28), seguida de hipotireoidismo (N=24) e colesterol (N=18), sendo que 15%(N=15) apresentaram essas doenças associadas. A queixa associada de zumbido e hipoacusia foi relatada por 46 pacientes. O padrão audiológico encontrado foi perda auditiva do tipo sensórioneural (42%N=42). A resposta de hiporreflexia unilateral foi a mais frequente (38% N=38). Os fármacos vasodilatadores foram os mais usados pelos pacientes deste estudo com destaque para o dicloridrato de betaistina (32% N=32). Não houve correlação entre tipo de tontura e resposta labiríntica. Houve correlação entre zumbido e hiporreflexia unilateral (r=0,9 p=0,02) e entre a associação de zumbido com hipoacusia e hiporreflexia unilateral (r=0,9 p=0,02). O grupo tratado com reabilitação vestibular isolada apresentou melhora significativa com nove meses (p=0,01). O grupo tratado com reabilitação vestibular e medicamentos apresentou melhora significativa com 45 dias (p=0,01). O grupo em uso de um fármaco não apresentou melhora significativa. O grupo em uso de vários fármacos apresentou melhora significativa com 45 dias (p=0,03). Conclui-se que a ocorrência de doenças metabólicas foi de 55% sendo a mais frequente a Diabetes. O zumbido e a hipoacusia foram relatados por 46% da população. Perda auditiva do tipo sensórioneural foi o padrão audiológico encontrado. Hiporreflexia unilateral foi à 9 resposta labiríntica mais frequente. Os fármacos vasodilatadores foram os mais utilizados pelos pacientes desse estudo. Houve correlação entre manifestações auditivas e hiporreflexia unilateral. Não houve correlação entre o tipo de tontura e resposta labiríntica. A reabilitação vestibular associada a uso de medicamentos no tratamento da tontura resultou em melhora dos sintomas de forma imediata, não colaborando para compensação em longo prazo. A reabilitação vestibular isolada no tratamento da tontura resultou em melhora dos sintomas com o efeito do tempo. As interações medicamentosas foram benéficas para alívio imediato da tontura, porém não contribuiu para compensação em longo prazo. / The vestibular rehabilitation is influenced metabolic diseases in response to therapy. Systemic processes may negatively affect the vestibular adaptation, leading to a partial response or lack of response. This study characterizes the labyrinthine metabolic in patients treated with vestibular rehabilitation, identifying aspects hearing, otoneurological and aspects of metabolic disease involved.The procedure of the research was based on analysis of patient questionnaires diagnosed with dizziness of metabolic origin between the years 2002-2014. The results revealed the occurrence of metabolic disorders in 55% (n = 55) of population with diabetes being the main (N = 28), followed by hypothyroidism (N = 24) and cholesterol (N = 18) and 15% (N = 15) had associated diseases. The complaint associated tinnitus and hearing loss was reported by 46 patients. The audiological pattern was sensorineural hearing loss type (42% N = 42). Unilateral hyporeflexia response was the most frequent (38% N = 38). Vasodilator drugs were the most commonly used by patients in this study highlighting the betahistine dihydrochloride (32% N = 32). There was no correlation between type of dizziness and labyrinthine response. There was a correlation between tinnitus and unilateral hyporeflexia (r = 0.9 p = 0.02) and between tinnitus associated with hearing loss and unilateral hyporeflexia (r = 0.9 p = 0.02). The group treated with isolated vestibular rehabilitation showed significant improvement with nine months (p = 0.01). The group treated with vestibular rehabilitation and medications showed significant improvement at 45 days (p = 0.01). The group using a drug did not show significant improvement. The group using several drugs showed significant improvement at 45 days (p = 0.03). It is concluded that the occurrence of metabolic disorders was 55% and the most frequent diabetes. Tinnitus and hearing loss were reported by 46% of the population. Sensorineural hearing loss type was the standard audiological found. Unilateral hyporeflexia was the most frequent response labyrinthine. Vasodilator drugs were the most commonly used by patients in this study. 11 There was a correlation between auditory events and unilateral hyporeflexia. There was no correlation between the type of dizziness and labyrinthine response. Vestibular rehabilitation associated with use of drugs in the treatment of dizziness resulted in improvement in symptoms immediately, not contributing to long-term compensation. Vestibular rehabilitation alone in the treatment of dizziness results in improvement of symptoms with the effect of time. Drug interactions were beneficial for immediate relief of dizziness, but did not contribute to long-term compensation.