Participants will be able to: Describe the characteristics and needs of young adults with CLP. Discuss the model of transition of care for the young adult with CLP. Extrapolate strategies that teams could use to improve the care of young adults with CLP. Full abstract available through The Cleft Palate-Craniofacial Journal.

Learner Outcomes: Acknowledge the application value of the ICF to individuals with CLP. Integrate the ICF framework into the assessment of individuals with CLP. Formulate intervention goals that go beyond speech production skills to include functional communication outcomes in a variety of life situations. Include improvement and changes in communication participation in everyday functioning in assessment and progress reports.

Participants will be able to: Describe the characteristics and needs of young adults with CLP. Discuss the model of transition of care for the young adult with CLP. Extrapolate strategies that teams could use to improve the care of young adults with CLP.

Os trabalhadores de enfermagem são acometidos por distúrbios osteomusculares, que, associados a diminuição da capacidade de trabalho e aumento do estresse, podem levar ao afastamento de suas atividades. Uma estratégia para reversão desse quadro é a condução de intervenções baseado na Nurse-Work Instability Scale (WIS), sendo disponível apenas na língua inglesa e alemã. O objetivo desta pesquisa foi traduzir, adaptar culturalmente e validar para o português falado no Brasil o \"NurseWIS\" para profissionais de enfermagem. Trata-se de um estudo metodológico, com abordagem quantitativa, composto por tradução, síntese, retrotradução, comitê de especialistas, analise semântica, pré-teste e análise das propriedades psicométricas pela teoria clássica e de resposta ao item. Participaram 262 profissionais de enfermagem de dois hospitais públicos da cidade de Manaus-AM. Foram aplicados o Nurse-WIS para o português falado no Brasil, o índice de capacidade para o trabalho (ICT) e Job Stress Scale (JSS). Os testes psicométricos aplicados foram a confiabilidade (consistência interna, teste-reteste, índice de separação de pessoas), validade de face e conteúdo e estrutural para o modelo de Rasch. O ICT e o JSS deram subsídios para análise da validade de constructo. Dentre os resultados destaca-se maior concentração de técnicos de enfermagem do sexo feminino, casados e com idade média de 42 anos. O ICT obtido foi de 37,3 e 56% dos trabalhadores foram classificados no perfil de estresse nocivo à saúde. O ICT apresentou correlação inversamente proporcional para estresse (r=-0,159, P=0,02) e demanda (r=-0,149, P=0,02) e diretamente proporcional para apoio social (r=0,285, P<0,001). O estresse apresentou associação com as categorias profissionais (P<0,001) e correlação inversamente proporcional para apoio social (r=-0,34, P<0,001). O instrumento mostrou bons indicadores de confiabilidade (KR-20=0,821; índice de correlação intraclasse (ICC) de 0,99; índice de separação de pessoa=0,860). A validade de face e conteúdo foi alcançada por meio da participação de 5 especialistas e 48 profissionais de enfermagem. A validade estrutural foi obtida pela adequação aos principais pressupostos do modelo de Rasch (ausência de função diferencial do item; dependência local e unidimensionalidade (P>0,05)), e a Area Under Curve ROC (AUC) de 0,865 reforçou a qualidade da estimativa para modelo de Rasch. A validade de constructo foi obtida por meio da confirmação de duas hipóteses: o aumento do ICT é acompanhado da diminuição da instabilidade (r=-0,512, P<0,001) e o aumento do nível de estresse é acompanhado pelo aumento da instabilidade (r=0,350, P<0,0001). O apoio social se mostrou inversamente proporcional à instabilidade (r=-0,410, P <0,0001). Assim, o processo de validação revelou bons indicadores de confiabilidade, validade de face e conteúdo, estrutural e constructo. As características sociodemográficas e ocupacionais foram semelhantes a estudos científicos da temática enfermagem e distúrbios osteomusculares. A utilização da abordagem clássica e da teoria de resposta ao item adaptou e validou o instrumento em sua conformação estrutural e geral. Ainda, destaca-se a importância de estudos de intervenção organizacional e ergonômico, nos indicadores de capacidade para o trabalho, estresse e instabilidade no trabalho de profissionais de enfermagem com distúrbios osteomusculares / Nursing workers present musculoskeletal disorders, which is associated with decreased work ability and increased stress, causing them to leave their work activities. One strategy to revert this scenario is to conduct an intervention based on the Nurse-Work Instability Scale (WIS), which is available in English and German languages. The objective of this study was to translate to the Portuguese spoken in Brazil, adapt culturally and validate the \"Nurse-WIS\" for nursing professionals. This is a methodological and quantitative study that included translation, synthesis, back translation, specialist committee, semantics analysis, pretest, and psychometric properties analysis using the classical and the item response theories. 232 nursing professionals from two public hospitals of the city of Manaus participated in the study. The Brazilian\'s Portuguese Nurse-WIS, the Work Ability Index (WAI) and the Job Stress Scale (JSS) were evaluated. The psychometric tests evaluated were reliability, internal consistency, test-retest, person separation index, face and content validity and structural validity for the Rasch\'s model. The WAI and the JSS provided data to the construct validity analysis. It was distinguished, in the results, a greater concentration of nurse technicians, female, married, with mean age of 42 years. The evaluated ICT showed 37,3 and 56% of workers classified as having a profile of stress harmful to health. The WAI showed inverse proportional correlation with stress (r=-0,159, P=0,02) and demand (r=-0,149, P=0,02) and direct proportional correlation to social support (r=0,285, P<0,001). The stress demonstrated association with professional categories (P<0,001) and inverse proportional correlation with social support (r=-0,34, P<0,001). The instrument showed good indicators for reliability (KR-20=0,821; intraclass correlation coefficient (ICC) of 0,99; person separation index=0,860). The face and content validity was achieved with the participation of 5 specialists and 48 nursing professionals. The structural validity was accomplished performing adjustments to the main prerequisites of the Rasch\'s model (no differential item functioning; local dependence and unidimensionality (P>0,05)), and the Area Under Curve ROC (AUC) of 0,865 reinforced the quality of the estimation to the Rasch\'s model. The construct validity was obtained by the confirmation of two hypothesis: the WAI increase is accompanied with the decrease of the instability (r=-0,512, P<0,001) and the increase of the stress level is accompanied with the increase of the instability (r=0,350, P<0,0001). The social support was proportionally inverse to instability (r=-0,410, P <0,0001). Therefore, the validation process revealed good indicators of reliability, face and content, structural and construct validity. The social demographic and occupational characteristics were similar to the scientific studies related to nursing and musculoskeletal disorders. The classical approach and the item response theory were utilized to adapt and validate the instrument in its structural and general conformation. In addition, it was highlighted the importance of organizational and ergonomic intervention studies for the indicators of work ability, stress and work instability in nursing professionals with musculoskeletal disorders

Diss. (sammanfattning) Umeå : Univ., 2004. / Härtill 6 uppsatser.

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive genetic disease, caused by a frame-shift mutation in the dystrophin gene. Current gene therapies for DMD target dystrophin transcripts in existing skeletal and cardiac muscle, rather than adipose and fibrotic tissues. These approaches may be unable to repair muscle functionality in DMD patients who have already undergone extensive muscle damage and wasting. Thus, successful DMD therapies must consider the underlying genetic cause and pathology. Inhibition of the gene myostatin, a negative regulator of muscle growth, has been shown to ameliorate muscle loss. Here, the CRISPR-Cas9 gene-editing platform is proposed to restore dystrophin expression and inhibit myostatin as a novel gene therapy in DMD patient derived induced pluripotent stem cells. Successful CRISPR-Cas9 mediated gene editing would be determined using PCR amplification, western blot analysis, immunofluorescence staining, and off target sequence analysis in differentiated skeletal muscle cells.

The mechanism of mechanotransduction in chondrocyte matrix metabolism is not well understood, in part because of the density of cartilage and in part because of limitations in in vitroculture systems. Using alginate covalently modified to include the integrin adhesion ligand R-G-D (arginine-glycine-aspartate) represents a unique approach to studying mechanotransduction in that it allows for exploration of the role of integrin adhesion in mediating changes to chondrocyte behavior. The hypothesis of this research was that chondrocytes will form a cytoskeletal adhesion to RGD-alginate mediated integrins, that this attachment will enable chondrocyte sensation of mechanical signals, and this signaling will alter chondrocyte matrix metabolism. The first aim of this research was to characterize chondrocyte attachment to RGD-alginate, and assess the role of substrate mechanics on chondrocyte attachment kinetics and morphology. Secondly, the effect of chondrocyte attachment to RGD-alginate in 3D culture on matrix biosynthesis was assessed, as were changes in substrate mechanics. Finally, this research aimed to determine the metabolic response of chondrocytes to changes in intrinsic and extrinsic mechanics. It was found that the RGD ligand functionalized the alginate scaffold, enabling chondrocytes to sense the mechanical environment. Attachment kinetics, morphology, and proteoglycan metabolism were found to adapt to hydrogel matrix stiffness when an integrin adhesion was present. Externally applied compression was transmitted through this integrin attachment, causing changes in proteoglycan synthesis. Components of media serum were found to modulate the effects of integrin mechanotransduction. These results were obtained by analyzing a novel approach with established techniques, such as the DMB dye assay for sulfated GAG content. The conclusions conform to diverse data from cartilage explant loading and monolayer culture studies, yet were accomplished using one versatile system in a straightforward manner. The potential of this system extends further, into identification of intracellular signaling pathways and extracellular modulation of matrix components. Seeded RGD-alginate is well suited for studying consequences of integrin attachment.

Orientador: Neusa Maria Costa Alexandre / Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-19T19:03:02Z (GMT). No. of bitstreams: 1 Coluci_MarinaZambonOrpinelli_D.pdf: 4250764 bytes, checksum: be2e8618076ba3c13c7db688dd4fe2dc (MD5) Previous issue date: 2012 / Resumo: Os trabalhadores da área de saúde, destacando-se os de enfermagem, são um grupo de risco para o desenvolvimento de distúrbios osteomusculares. Os objetivos desta pesquisa foram desenvolver um questionário que avalia a percepção dos trabalhadores de enfermagem sobre os fatores do trabalho que podem contribuir para sintomas osteomusculares, avaliar suas propriedades psicométricas e analisar os resultados dos instrumentos de medidas. O desenvolvimento do questionário seguiu normas metodológicas de construção e adaptação de instrumentos. Foi realizada uma revisão na literatura, identificação de instrumentos de medida e realização de entrevistas com uma amostra da população alvo da pesquisa. Os domínios, itens e o instrumento como um todo tiveram seu conteúdo avaliado por dois comitês de especialistas. Após a validade de conteúdo, foi realizado um pré-teste. Os dados foram obtidos por meio de entrevistas junto a 370 trabalhadores de enfermagem de dois hospitais. A coleta de dados foi realizada a fim de se avaliar as qualidades psicométricas da versão final denominada "ErgoEnf - Questionário para levantamento de risco ergonômico em trabalhadores de Enfermagem", sendo composta por 32 itens distribuídos em quatro domínios. A validade de constructo foi analisada por análise fatorial, pela técnica dos grupos conhecidos (com trabalhadores de enfermagem e da área administrativa) e pela validade convergente, correlacionando os resultados do instrumento com a Escala numérica de dor, com o SF- 36 e com o Questionário de avaliação do desempenho no trabalho (WRFQ). A confiabilidade foi verificada por meio da consistência interna e da estabilidade (testereteste). Foi realizada análise descritiva e avaliação da validade de constructo por meio da técnica de análise fatorial confirmatória, do teste de Mann-Whitney para comparação entre os grupos conhecidos e do coeficiente de correlação de Spearman para correlacionar os escores do novo questionário com os demais instrumentos de medidas. A consistência interna foi avaliada por meio do alfa de Cronbach. Foi estimado o Coeficiente de Correlação Intra-classe (CCI) para avaliar a estabilidade da medida. Os resultados indicaram que a análise fatorial confirmatória foi o modelo fatorial mais adequado uma vez que apresentou todos os índices de ajustes satisfatórios, confirmando a estrutura pré-definida do questionário. Verificou-se também uma diferença significativa (p < 0,01) entre as respostas dos trabalhadores de Enfermagem e da área administrativa em todos os domínios do ErgoEnf, apontando para evidência de validade discriminante desse instrumento. As correlações entre o novo questionário e a Escala Numérica de Dor e domínios do SF-36 e do WRFQ foram significativas (p < 0,01) e a maior parte delas de moderada magnitude. O alfa de Cronbach variou de 0,89 a 0,91. O CCI oscilou entre 0,64 e 0,76, o que indica estabilidade da medida. A média dos valores dos domínios do ErgoEnf mostrou que os trabalhadores de Enfermagem percebem os fatores biomecânicos exercendo uma influência moderada para o surgimento de sintomas osteomusculares, enquanto os fatores ambientais, organizacionais e psicossociais como uma influência mínima relacionada aos sintomas. Portanto, o processo de desenvolvimento e validação do "ErgoEnf - Questionário para levantamento de risco ergonômico em trabalhadores de Enfermagem" evidenciou resultados que indicam qualidades psicométricas adequadas do questionário, permitindo assim que este possa ser utilizado em estudos ergonômicos com trabalhadores de equipe de Enfermagem / Abstract: The health care workers are a risk group for developing musculoskeletal disorders, especially nurses. The objectives of this research were to develop a questionnaire that evaluates the perception of nursing workers to job factors that may contribute to musculoskeletal symptoms, to evaluate its psychometric properties, and to analyze the instruments' results. The development of survey methodologies followed standards of construction and adaptation tools. Literature reviews, identification of measurement instruments and interviews with a sample of the survey's target population were performed. The development stages of domains, items and the instrument as a whole had its content assessed by two expert committees. After the content validity, a pre-test of the questionnaire was performed. Data were obtained through interviews with 370 nursing workers of two hospitals. Data collection was carried out in order to evaluate the psychometric qualities of the final version: "ErgoEnf - Questionnaire to evaluate ergonomic risk in nursing", which was composed by 32 items distributed in four domains. The construct validity was analyzed by the factorial analysis, the technique of the known groups (nursing workers and administrative workers) and by the convergent validity, comparing the results of the instrument with the answers to the Numeric pain scale the SF- 36, and the Work Role Functioning Questionnaire (WRFQ). Reliability was assessed through internal consistency and stability (test-retest). Different quantitative analysis were performed, i.e., descriptive analysis, technique of confirmatory factor analysis, the Mann- Whitney test to compare known groups, the Spearman correlation test to correlate the new questionnaire scores with other measurement instruments, Cronbach's alpha to study the internal consistency, and the Intra-class Correlation Coefficient (ICC) to investigate the stability. The confirmatory factor analysis indicated that the questionnaire indices are all tweaking satisfactory, confirming the pre-defined structure of the questionnaire. There was also a significant difference (p <0.01) between the responses of nursing staff and administrative area workers in all domains of ErgoEnf. The correlations between the new questionnaire and Numeric pain scale, SF-36 and WRFQ were all significant (p <0.01) and most of them of moderate magnitude. Cronbach's alpha calculated to verify the instrument's internal consistency ranged from 0.89 to 0.91. ICC values ranging from 0.64 to 0.76 indicated the stability of the questionnaire. The mean values of the ErgoEnf domains showed that nursing workers perceived biomechanical factors exerting a moderate influence to the development of musculoskeletal symptoms, whereas environmental, organizational and psychosocial factors showed a minimal influence related to the symptoms. Therefore, the process of development and validation of the "ErgoEnf - Questionnaire to evaluate ergonomic risk in nursing" was completed with results that indicate good psychometric properties for use in ergonomic studies with nursing workers / Doutorado / Enfermagem / Doutor em Ciências da Saúde

Abstract Recent studies in adults have shown that musculoskeletal (MS) pains are often experienced at several body sites. The number of pain sites has been shown to be proportional to poor health outcomes, such as functional ability and health-related quality of life (HRQoL). This study investigated the occurrence and persistence of MS pain in multiple locations, determinants of multiple-site pain, and the impact of multiple-site pain on HRQoL and health care use among adolescents aged 16 to 19. The data were based on three inquiries that were administered to the adolescents of the Northern Finland Birth Cohort 1986. MS pain was common and often occurred at multiple sites. Moreover, the majority of adolescents with multiple-site pain at 16 reported multiple-site pain also at 18. Multiple-site MS pains were strongly associated with psychosocial complaints, but also with high physical activity level, long sitting time, short sleeping time, smoking, and overweight. Emotional problems, behavioral problems, and high sitting time among males, and emotional problems, high physical activity level, short sleeping time, and smoking among females were predictive factors for the persistence of multiple-site pain. The likelihood of reduced HRQoL increased according to the number of MS pain sites. A trend toward an increase in health care use with the number of pain sites was also observed. Reporting pain in multiple sites in adolescence may have both peripheral (tissue origin) and central (pain experience) causes. As multiple-site pain in adolescence may predict subsequent MS morbidity, the adolescents who are at highest risk and also at the highest need of health promotion should be identified in further studies. / Tiivistelmä Aikuisväestössä tehtyjen tutkimusten perusteella tuki- ja liikuntaelimistön kivut esiintyvät tavallisesti usealla kehon alueella samanaikaisesti. Monikipuisuudella näyttää olevan epäedullisia vaikutuksia useisiin terveyteen liittyviin ilmiöihin kuten toiminta- ja työkykyyn sekä elämänlaatuun. Tässä tutkimuksessa tarkasteltiin monipaikkaisen tuki- ja liikuntaelinkivun esiintyvyyttä, pysyvyyttä ja riskitekijöitä sekä sen vaikutusta terveyteen liittyvään elämänlaatuun ja terveyspalvelujen käyttöön 16–19 –vuotiailla nuorilla. Tutkimuksen aineisto perustui kolmeen kyselyyn, jotka lähetettiin Pohjois-Suomen syntymäkohortti 1986:n nuorille. Tuki- ja liikuntaelinkipu oli yleistä ja esiintyi tavallisimmin usealla kehon alueella. Suurin osa nuorista, jotka raportoivat monen paikan kipua 16-vuotiaana, raportoivat sitä myös 18-vuotiaana. Monen kehon alueen tuki- ja liikuntaelinkipu yhdistyi voimakkaasti psykososiaalisiin tekijöihin, mutta myös korkeaan liikunta-aktiivisuuteen, runsaaseen istumiseen, vähäiseen uneen, tupakointiin ja ylipainoon. Käyttäytymisen- ja tunne-elämän häiriöt sekä runsas istuminen pojilla, ja tunne-elämän häiriöt, korkea liikunnallinen aktiivisuus, vähäinen uni sekä tupakointi tytöillä ennustivat monen kehon alueen kivun pysyvyyttä. Todennäköisyys heikentyneeseen terveyteen liittyvään elämänlaatuun lisääntyi suhteessa kipualueiden määrään. Myös terveyspalvelujen käytön ja kipualueiden lukumäärän välillä havaittiin yhteys. Monen paikan tuki- ja liikuntaelinkipua selittänevät sekä kudostasoiset että keskushermostolliset syyt. Koska laaja-alainen kipuoireilu nuoruudessa voi ennustaa myöhempiä tuki- ja liikuntaelinongelmia, riskiryhmiä ja samalla eniten terveyden edistämistä tarvitsevia nuoria tulisi pyrkiä jatkossa tarkemmin tunnistamaan.

Osteopetrosis is a metabolic bone disease in mammals characterized by a generalized skeletal sclerosis caused by reduced bone resorption. This reduced bone resorption is manifested in afflicted animals by abnormal bone shape, reduced or absent marrow cavities, extramedullary hemopoiesis, abnormal mineral homeostasis and absent or delayed tooth eruption. The available osteopetrotic animal mutations have been a constant source of fruitful investigations concerning the systemic regulation of osteoclastogenesis and bone metabolism. Tooth eruption, on the other hand, is a localized manifestation of the timely activation of bone resorption and bone formation on opposite sides of an erupting tooth. Its rate-limiting step is the speed of bone resorption to form the eruption pathway. In this dissertation, we used two osteopetrotic rat mutations, toothless (tl) and microphthalmia blanc (mib), to investigate the abnormal development of osteoclasts and tooth eruption in mutant rats with an emphasis on the role of systemic and local factors. The significant contributions to this work are listed below. 1. In the toothless rat, a mutation lacking erupted dentition due to severely reduced bone resorption, colony-stimulating factor-1 (CSF-1) promoted tooth eruption but this was delayed compared to normal rats. Eruption was accompanied by changes in the populations of tartrate-resistant acid phosphatase-positive (TRAP+) mononuclear cells in the dental follicle and TRAP+ osteoclasts on adjacent alveolar bone surfaces. These cell populations were dramatically increased in treated mutants compared to untreated tl rats, but the timing of their appearance was delayed compared to normal littermates. This lag in the appearance of osteoclasts and their precursors corresponded to the delay in eruption of first molars in treated tl rats. 2. CSF-1 also accelerated the eruption of molars in normal rats. CSF-1 increased the number of TRAP+ mononuclear cells in the dental follicle and TRAP+ osteoclasts on adjacent alveolar bone surfaces, but had no effect on the timing of their appearance in normal rats. 3. Our data revealed a differential effect on tooth eruption of the growth factors CSF-1 and epidermal growth factor (EGF). CSF-1 accelerated eruption of molars in normal rats, but had no effect on incisor eruption. On the other hand, EGF accelerated incisor eruption; but did not affect molar eruption in normal rats. 4. We have described the mechanism for the transient, mild form of osteopetrosis inherited by mib rats. Mutant animals possess a typical sclerosis at birth, which diminished--but was not resolved--during the first postnatal month. These characteristics are caused by early reductions in osteoclast number and function which improve to normal levels by 4 weeks. Osteoclast numbers were severely reduced in mib rats between birth and 2 weeks, but improved to near normal levels by 4 weeks. Neonatal abnormalities in osteoclast function included reduced staining for the functional enzymes TRAP and TrATPase, decreased levels of mRNA for both TrATPase and CAll, and inability to form a well-developed ruffled border. None of these defects were apparent after the first postnatal month. 5. Finally, we have shown that the dental abnormalities caused by the mild, transient form of osteopetrosis in mib rats are limited to incisor defects and delayed eruption of all teeth. Histologic and radiographic examination of mutant incisors revealed that, contrary to the situation in normal rats, the apex of the incisors of mib rats failed to extend past the first molar region to the third molar. The incisor apex of newborn mib rats was misshaped due to ankylosis of incisor matrices with alveolar bone. This ankylosis was temporary, being resolved by the third postnatal day. The delayed eruption of incisors in mib rats and abnormal shape and occlusion of these teeth in older animals is a consequence of the temporary ankylosis in newborn rats.