Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic movements and abnormal red blood cell morphology. The disorder shares features with Huntington's disease and McLeod syndrome (MLS), and can sometimes be difficult to distinguish clinically from the latter. In 1997, ChAc was linked to a 6-cM region on chromosome 9q21-22. A novel gene, >em>CHAC, was identified in the critical region. CHAC (now renamed VPS13A) encodes a large protein called chorein, with a yeast homologue implicated in protein sorting. In this study, all 73 exons plus flanking intronic sequence in VPS13A were screened for mutations in 83 unrelated ChAc patients. We identified 88 different VPS13A mutations in 72 probands, comprising six deletions of entire exons, 22 nonsense, 36 frameshift, 19 splice-site and five missense mutations. This disorder therefore shows substantial allelic heterogeneity: however, evidence for common inheritance of the EX70_73del mutation in four French Canadian pedigrees indicates a possible founder effect in this population. Expression of VPS13A appears to be ubiquitous, as determined by tissue-specific analysis of mRNA and chorein distribution. However, chorein expression was markedly reduced or undetectable in lymphoblasts, fibroblasts and erythrocyte membranes from 14 ChAc patients. In contrast, MLS cells showed chorein expression similar to control levels, suggesting that loss of chorein expression is a diagnostic feature of ChAc. Yeast two-hybrid analysis of six different -600 amino-acid chorein fragments was used to screen a human brain cDNA library for proteins that may interact with chorein. One fragment interacted weakly with constructs derived from transcription factor NF-κB, putative protein phosphatase PP2Cη and TAB2, a protein implicated in the mitogen-activated kinase cascade. Although exogenously expressed chorein and TAB2 did not appear to colocalise, co-immunoprecipitation experiments supported an interaction between the two proteins, suggesting an avenue for future research into chorein function.

Thesis (M.A.) - Carleton University, 2003. / Includes bibliographical references (p. 108-111). Also available in electronic format on the Internet.

Thesis (Ph. D.)--Oregon State University, 2008. / Printout. Includes bibliographical references (leaves 112-124). Also available on the World Wide Web.

Mémoire (M.E.S.R.)--Université du Québec à Chicoutimi, 1999. / Document électronique également accessible en format PDF. CaQCU

Thesis (M. S.)--City and Regional Planning, Georgia Institute of Technology, 2009. / Committee Chair: Sawicki, David; Committee Co-Chair: Clark, Jennifer; Committee Member: Baker, Paul M.A.; Committee Member: Mitchell, Helena

Made available in DSpace on 2014-06-11T19:28:19Z (GMT). No. of bitstreams: 0 Previous issue date: 2012-06-29Bitstream added on 2014-06-13T20:37:06Z : No. of bitstreams: 1 nabi_mrs_me_botfm.pdf: 1118453 bytes, checksum: 16bd1f26a16333748244837386367f8c (MD5) / Estudo epidemiológico retrospectivo, descritivo, com o objetivo de caracterizar o perfil dos atendimentos por transtornos psiquiátricos realizados pelas equipes do Serviço de Atendimento Móvel de Urgência – SAMU-192 –, no período de junho a dezembro de 2010, na cidade de Bauru. Utilizaram-se como fontes de dados os registros de informações do Sistema SR SAMU, Versão 3.2, assim como do Serviço Social do Pronto-Socorro Municipal Central (PSMC). Foram avaliadas 18.246 fichas de atendimentos, sendo 2.106 (12%) categorizadas como transtornos psiquiátricos. Preponderaram os episódios convulsivos (39,2%), seguidos pelo abuso de álcool (14,6%) e de drogas (6,7%). Houve 269 internações psiquiátricas em hospitais referenciados. Realizaram-se comparações entre os episódios avaliados considerando-se o sexo e a faixa etária, por meio de testes de diferença de proporções, com a adoção de um nível de significância de 5% ou do p-valor correspondente. Em relação ao sexo, ocorreu diferença significativa (p<0,0001) no atendimento de homens por abuso de álcool (78,3%) e outros tipos de drogas (78,7%), assim como para episódios convulsivos (75,1%) e agitação psicomotora (63,6%), enquanto para as mulheres isso ocorreu em relação à crise conversiva (85,7%) e de ansiedade (77,4%). Os homens (66,0%) superaram as mulheres (34%) na demanda pelos atendimentos do SAMU por abusarem três vezes mais do álcool e de drogas quando comparados a elas. Houve significância (p<0,0001) entre faixas etárias e demandas por atendimentos relacionadas a: abuso de álcool, abuso de drogas, agitação psicomotora, ansiedade, crise conversiva, depressão, surto psicótico, tentativa de suicídio, intoxicação exógena, convulsão e outros problemas psiquiátricos. Verificou-se que as faixas etárias de 20 a 29 (23,5%), 30 a 39 (25,6%)... / This is an epidemiological, retrospective, descriptive study aiming at characterizing the profile of care provision due to psychiatric disorders by the teams of the Mobile Urgent Care Service - SAMU-192 from June to December 2010 in the city of Bauru. The records of information from the SR SAMU System, Version 3.2, and from the Social Service of the Central Municipal Emergency Hospital (PSMC) were used as data sources. Eighteen thousand, two hundred and forty-six care provision forms were evaluated. Of these, 2,106 (12%) were categorized as psychiatric disorders. Convulsive episodes (39.2%) predominated, followed by alcohol (14.6%) and drug (6.7%) abuse. There were 269 psychiatric hospitalizations in referral hospitals. Comparisons were made between the evaluated episodes by taking into account gender and age range by means of difference in proportions tests and by adopting a level of significant of 5% or the corresponding p-value. As regards gender, a significant difference was observed (p<0.0001) for care provision to males due to abuse of alcohol (78,3%) and other drugs (78.7%) as well as to convulsive episodes (75.1%) and psychomotor agitation (63.6%), whereas for females, it was due to conversion disorders (85.7%) and anxiety (77.4%) crises. Males (66.0%) surpassed females (34%) in the demand for SAMU care as a result of threefold alcohol and drug abuse when compared to the latter. Significance was observed (p<0.0001) between the age ranges and demand for care related to: alcohol abuse, drug abuse, psychomotor agitation, anxiety, conversion disorder, depression, psychotic outbreaks, suicide attempts, exogenous intoxication, convulsion and other psychiatric problems. It was observed that the age ranges from 20 to 29 (23.5%), 30 to 39 (25.6%) and 40 to 49 (18.9%) years accounted... (Complete abstract click electronic access below)

Orientador: Marcelo de Castro Meneghim / Dissertação (mestrado profissional) - Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba / Made available in DSpace on 2018-08-19T10:45:55Z (GMT). No. of bitstreams: 1 Fonseca_DirceAparecidaValerioda_M.pdf: 1162791 bytes, checksum: 8fb1a9e51bab970eb765452af7768025 (MD5) Previous issue date: 2011 / Resumo: Este estudo tem como objetivo analisar a influência de fatores sociodemográficos e da organização do serviço público odontológico na procura por atendimento em um pronto atendimento odontológico, a fim de auxiliar o poder público no planejamento de ações integradas de saúde. Foram utilizados todos os registros dos usuários que procuraram por atendimento no Serviço de Pronto Atendimento Odontológico de Piracicaba-SP, no período de 01/01/2007 a 31/12/2009, sendo classificados segundo a característica dos bairros de residência, da idade, do gênero, da data e do período do atendimento. O mapa de inclusão/exclusão social do município foi utilizado para classificá-los quanto à questão sociodemográfica, a localização da unidade de saúde de referência e a existência de serviço odontológico inserido na mesma foi verificada junto a Secretaria de Saúde do município. Foram analisados 57.231 registros de atendimento, onde 5,24% da população estimada do município utilizaram o serviço no período estudado, com maior procura na faixa etária de 20 a 49 anos (63,84%), o período da tarde durante os dias úteis apresentou maior procura e o período da manhã dentre os finais de semana e feriados. Não houve diferença estatisticamente significativa na procura quanto ao gênero. Os procedimentos mais executados foram os cirúrgicos (54,90%), sendo que os procedimentos cirúrgicos e os conservadores apresentaram um comportamento inverso no decorrer do período, com um declínio dos cirúrgicos. Conclui-se que os usuários residentes em áreas de maior exclusão social apresentaram 4,15 vezes mais chance de procurar pelo serviço de pronto atendimento, e não foi observada associação estatisticamente significativa entre a procura pelo serviço de pronto atendimento e a existência de equipe de saúde bucal na área de residência. Os municípios têm investido na expansão da rede de atenção básica por meio da estratégia de saúde da família, e os resultados sugerem a necessidade da continuidade dos investimentos, principalmente nas áreas de maior exclusão social, na tentativa de minimizar as desigualdades e valorizando o princípio da equidade / Abstract: This study aimed to evaluate the influence of socio-demographic factors and organization of public dental services on the demand for emergency dental care, in an attempt to aid the local government in planning health integrated actions. Approved by the Ethics Committee for Dental and Human Research of Piracicaba Dental School - University of Campinas (UNICAMP), this study included all users who seek emergency dental care in Piracicaba between Jan 1st, 2007 and Dec 12th, 2009. Users were classified according to place of dwelling, age, gender, and date and time of dental service delivery. The social inclusion/exclusion map of Piracicaba was used to classify users in the perspective of socio-demographic status and location of the health unit of reference. Information on the provision of dental care in public health units was provided by the local health department; analysis included 57.231 records, revealing that 5.24% of the estimated population, age 20-49 years, used the service during the study period, with the age group 20-49 years showing the highest prevalence (63.84%), the afternoon showed greater demand for the service and the mornings on weekends and holidays. With respect to gender, no statistically significant difference was found for dental service demand. Surgical procedures were the most prevalent (54.90%). The prevalence of surgical procedures was observed to decrease while that of conservative ones to increase during the period assessed (2007-2009).Users living in areas of greatest social exclusion were 4.15 times more likely to seek emergency dental care. No statistically significant association was found between the demand for emergency dental care and the existence of a local oral health team. Municipalities have attempted to expand the network of primary care by family health strategy; the results showed the need for further investment in the area, particularly those of greatest social exclusion, in an attempt to reduce inequalities and to value the principle of equity / Mestrado / Odontologia em Saude Coletiva / Mestre em Odontologia em Saúde Coletiva

The purpose of this exploratory descriptive study was to determine orthopedic patients' perceptions of satisfying and/or dissatisfying nursing care behaviours during their emergency room experience. The conceptual framework selected for this study was based on Risser's (1975) criterion to evaluate patient satisfaction with nursing care. Risser's evaluative criterion consists of four dimensions which include: technical-professional behaviour, trusting relationship, inter-intrapersonal relationship, and educational relationship. The study was conducted in a large metropolitan hospital in the Vancouver area. The sample consisted of seven men and three women. Their ages ranged from 23 to 81 years. All subjects were admitted to the emergency room and subsequently transferred to an orthopedic ward as a result of an orthopedic injury and/or illness. An interview guide was designed by the researcher to collect retrospective data of subjects' perceptions of their emergency room experience. Data were collected through taped semi-structured interviews with all the subjects during their stay on the orthopedic ward. Data were analyzed by categorizing the identified nursing care behaviours under the four dimensions of Risser's (1975) evaluative criterion. The findings indicated that subjects were able to recall satisfying or dissatisfying nursing care behaviours. They appraised and/or commented on the nursing care behaviours which met their basic physical and psychosocial needs. The nursing care behaviours related to the trusting relationship dimension were an integral component of patient satisfaction. The role of the triage nurse was significant in influencing subjects' perceptions of satisfaction or dissatisfaction with nursing care. Overall, subjects expressed satisfaction with the nursing care behaviours in each of the four dimensions. / Applied Science, Faculty of / Nursing, School of / Graduate

Background: The World Health Organisation (WHO) Africa region experiences multiple public health emergencies (PHEs) annually. PHEs have been documented to affect the provision of health services including immunisation. To our knowledge, there is a scarcity of studies characterising PHEs and the performance of national immunisation programmes (NIPs) in countries within the WHO Africa region that have experienced PHEs. This study assessed PHEs (armed conflicts, disasters, and disease outbreaks) and the performance of NIPs in the context of PHEs using global and regional immunisation targets. Methods Countries in the WHO Africa region that were reported to benefit from the African Public Health Emergency Fund (APHEF) were used as case studies. Data on PHEs and immunisation indicators recorded between 2010 and 2019 in the study countries were extracted from different electronic PHE databases (the Emergency Events database, the Uppsala Conflict Data Program, the WHO Emergency Preparedness and Response, and the Program for Monitoring Emerging Diseases Mail) and the WHO/UNICEF immunisation database, respectively. The PHEs and immunisation indicators were stratified by country and summarised using descriptive statistics. The Mann-Whitney U test was carried out to determine the association between the frequency of PHEs and the performance of NIPs in the selected countries from 2010 to 2019. Statistical significance was defined at p-value < 0.05. Results Thirteen countries were included in this study. A total of 175 disease outbreaks, 288 armed conflicts, and 318 disasters were reported to have occurred within the 13 countries from 2010 to 2019. The Democratic Republic of Congo had the highest total PHE count (n=208), while Liberia had the lowest (n=20). Only three of the 13 countries had a median coverage value for the third dose of the combined Diphtheria, Tetanus, and Pertussis vaccine (DTP3) that had attained the target for ≥90% immunisation coverage. Higher counts of armed conflict and total PHEs were statistically significantly (p=0.03) associated with not attaining MNT elimination. Conclusion PHEs are prevalent in the WHO Africa region, irrespective of the level of a country's immunisation maturity. In absence of effective interventions, PHEs have the potential to derail the progress of NIPs in the WHO Africa region. As we enter the Immunisation Agenda 2030 era, this study advocates for the prioritisation of interventions to mitigate the impacts of PHEs on the NIPs.

No description available.