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Objective:To evaluate the clinical value of prenatal molecular diagnostic technology in preventing hereditary diseases through analysis of prenatal diagnostic characteristics in 22 monogenic skeletal disorders pedigrees.Methods:This study retrospectively analyzed prenatal molecular diagnostic results of 22 pedigrees with monogenic skeletal disorders who were admitted to Department of Osteoporosis and Bone Diseases in our hospital from January 2014 to July 2021.Results:Among 22 pedigrees, there were 10 pedigrees with X-linked hypophosphatemic rickets due to PHEX gene mutations, in which 8 fetuses were found to carry pathogenic variants; 6 pedigrees with osteopetrosis, including 3 cases of CLCN7 gene mutation, 2 TCIRG1 gene mutation, and 1 CTSK gene mutation, were detected to have 2 affected fetuses and 1 carrier. There were 4 cases of osteogenesis imperfecta, including 2 cases of COL1A1 gene mutation, 1 case of COL1A2 gene mutation, and 1 case of SERPINF1 gene mutation, in which 1 affected fetus and 1 carrier were found; only one case of osteoarthritis with mild chondrodysplasia caused by COL2A1 gene mutation was found to harbor pathogenic variant in fetus; 1 case of hypophosphatasia due to ALPL gene mutation was not detected to carry pathogenic variant in fetus. By the time of follow-up, all 12 affected fetuses were terminated, and the remaining 10 fetuses except for one case still in pregnancy were born in good condition.Conclusion:Prenatal molecular diagnosis may confirm whether the fetus carries pathogenic variants at the first and second trimesters. For monogenic skeletal disorders that comply with Mendel′s law of separation, prenatal diagnosis can be determined by calculating the probability of recurrence of offspring. In addition, for families with de novo mutations in the offspring, it is necessary to pay attention to whether there are mosaic mutations in the parents.
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BACKGROUND: Specific bone-targeting drug delivery system is very important in the treatment of bone-related diseases. Development of nanotechnology provides a good platform and a new thought for preparation of specific bone-targeting nanoscale drug delivery system. OBJECTIVE: To review the current development and future prospects of specific bone-targeting drug delivery systems. METHODS: A computer-based online search of PubMed, Web of Science, and Medline databases was performed to retrieve studies regarding active targeting drug delivery system and nanoscale drug delivery system published between March 2014 and March 2019 with the search terms “Bone target therapy, Nanoparticles, Drug delivery system”. RESULTS AND CONCLUSION: The targeting group is an important component of the specific bone-targeting drug delivery system and it determines the targeting efficiency of the drug delivery system. Targeting bone tissue, osteoblasts, osteoblasts, and bone marrow mesenchymal stem cells have their own advantages and disadvantages. Specific bone-targeting nanoscale drug delivery systems have been widely used in various bone diseases, such as metastatic osteoporosis, osteomyelitis, multiple myeloma, osteosarcoma, and bone metastases. Specific bone-targeting drug delivery systems have advantages and challenges. Although many basic studies have shown good results of specific bone-targeting drug delivery systems in vivo, little is reported on successful clinical transformation of bone-targeting groups-modified nanoscale drug delivery systems.
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Skeletal dysplasia(SD)is a group of genetic disorders resulting from disruption of normal skeletal growth and development, characterized by heterogeneous and overlapping phenotypes. Molecular diagnosis is required to help physicians further identify the type, etiology and prognosis of the disease. A great number of discoveries of pathogenic mutations has been made largely due to extensive use of whole exome sequencing(WES)and the genomic technique. Here we review the most recent molecular genetic studies of SD using WES technique.
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Objetivo: este estudio presenta los resultados de un análisis de prospectiva estratégica aplicado a la prevención de los desórdenes musculoesqueléticos (DME) de origen laboral en Colombia. Comienza con el establecimiento del estado del arte y el análisis de tendencias y megatendencias mundiales en materia de prevención y culmina con la selección de un escenario apuesta, considerado por los expertos como aquel al que Colombia debe apostarle en el año 2025. Materiales y métodos: el método que se utilizó es el propuesto en el modelo prospectivo avanzado 2008, el cual permite seleccionar un "escenario apuesta", basado en el análisis retrospectivo y el estado actual de un sistema de estudio, así como el análisis de las tendencias, las opiniones de los expertos, el monitoreo tecnológico, el juego de actores y su interrelación. Con dichos insumos, se convocaron expertos de diversas áreas de interés de la Ergonomía y los riesgos laborales para adelantar los talleres de prospectiva estratégica, definición de factores de cambio, variables estratégicas, juego de actores, diseño de escenarios con los ejes de Peter Schwartz y análisis morfológico. Resultados: la información de los expertos se procesó con el análisis estructural en el software MIC MAC (1) y las relaciones con los actores, con el Mactor (1). Conclusiones: los factores y sus relaciones se examinaron hasta definir de manera objetiva los vectores de cambio para el futuro, los cuales permiten diseñar estrategias que, transformadas en acciones, en el corto y mediano plazo, conduzcan a los interesados a construir el futuro deseado para el año 2025
Objectives: this study presents the results of a strategic prospective analysis applied on the prevention of work-related muscular-skeletal disorders in Colombia. First the state of the art was established, then an analysis of worldwide trends and megatrends in prevention was made, finally a challenge scenario was selected, which is considered by experts as the one which Colombia should aim at in 2025. Materials and methods: the method used is the one proposed in the Advanced Prospective Model 20081, which allows the selection of a "Challenge Scenario" based on retrospective analysis and the current status of a system under study, as well as the analysis of the trends, opinions of experts, monitoring of technology, interplay of actors, and their interrelation. Having these inputs, experts in diverse areas of interest for ergonomics and job hazards were appointed to develop the workshops in strategic prospective: Factors of change, strategic variables, interplay of actors, design of scenarios using the axes of Peter Schwartz, and morphologic analysis. Results: the data provided by the experts was processed via structural analysis using the MIC MAC software (1) and the relations with the actors were processed using Mactor (1), Conclusion: in such a way that the factors and their relations were analyzed until defining the vectors of change for the future in an objective way, which allows to devise strategies that transformed into actions, going from short-term to mid-term, allow the stakeholders to construct the future desired for the year 2025.
Este estudo apresenta os resultados de uma análise de prospectiva estratégica aplicado à prevenção das desordens musculoesqueléticos (DME) de origem laboral na Colômbia. Começa com o estabelecimento do estado da arte e a análise de tendências e megatendências mundiais em matéria de prevenção, e culmina com a seleção de um cenário aposta, considerado pelos expertos como aquele ao que a Colômbia deve apostar-lhe no ano 2025. O método que se utilizou, é o proposto no Modelo Prospectivo avançado 2008, o qual permite selecionar um "Cenário Aposta", baseado na análise retrospectiva e o estado atual de um sistema de estudo, assim como a análise das tendências, as opiniões dos expertos, o monitoramento tecnológico, o jogo de atores e a sua inter-relação. Com ditos insumos, convocaram-se a expertos de diversas áreas de interesse da ergonomia e os riscos de trabalho, para adiantar os seminários de prospectiva estratégica, definição de fatores de mudança, variáveis estratégicas, jogo de atores, desenho de cenários usando os eixos de Peter Schwartz e análise morfológico. A informação dos expertos se processou com a utilização da análise estrutural no software MIC MAC (Godet, 2001) e as relações com os atores com o uso do MACTOR (Godet, 1990). Os fatores e as suas relações se analisaram até chegar a definir estratégias, que transformadas em ações, no curto e mediano prazo, permitam aos interessados construir o futuro desejado para o ano 2025.
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Humanos , Anormalidades Musculoesqueléticas , Riscos Ocupacionais , Estudos Prospectivos , Colômbia , Prevenção de DoençasRESUMO
As an essential fat-soluble vitamin in human body, the main function of vitamin D (VD) is mediated by its receptor. In the past decade, VD has drawn gradual and consistent attention from the scientific community and health professionals. According to epidemiological survey, approximately one billion people are under the state of vitamin D insufficiency or deficiency in the world. This phenomenon is also very common in China. By participating in calcium and phosphorus absorption from GIT, VD stands as a very important functional immune regulator. It plays a vital role in modulating both innate and adaptive immune responses, mainly through the modulation of growth, differentiation and function of a variety of immune cells, and the influence of secretion of cytokines and antimicrobial peptides. VD deficiency and pediatric diseases such as acute lower respiratory infection and asthma are associated with not only pediatric skeletal disorders (including nutritional rickets，osteomalacla，and osteoporosis), but also pediatric non-skeletal disorders, such as mortality rate, cardiovascular disorders and mortality，metabolic syndrome (including obesity，impaired glucose tolerance (IGT), diabetes mellitus, lipid metabolism disorders and hypertension), cancer，infection，allergy and asthma, neurological and mental diseas-es，autoimmune diseases，and chronic kidney diseases. Although VD treatment of skeletal disorders has been widely recognized，its efficacy and long-term effect on non-skeletal disorders is not clear. Hence, for the benefit of general children and their families, aim of the present review is to determine some convincing facts of evidence-based medicine about Chinese children, and to discuss certain reasonable, right and effective measures to prevent VD deficiency thereby reducing the risk of rickets.
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Background: This study has been carried out to determine the prevalence and pattern of Musculo Skeletal Disorders (MSD) among software professionals and to evaluate the association between socio-demographic factors, computer work related factors and MSD. Methods: The study design was cross sectional with software professionals working in information technology (IT) companies in Chennai, Tamilnadu as the study population. The sampling method used for the survey is the non-probabilistic purposive sampling. Data was collected using a questionnaire which includes personal data, job details and standardized Nordic questionnaire. Results: Prevalence of work related MSD during last 12 months, during last 7 days and annual disability were 69%, 49.2% and 16.6% respectively. The common prevalence of work related MSD reported during last 12 months based on their body region were neck (29.56%), lower back (22.89%), shoulders (12.17%) and knees (9.56%). There was a statistically significant difference in terms of gender, regular exercise, more than 5 working days per week, more than eight hours of work per day and habit of taking lesser breaks during work hours at regular intervals. There were no statistically significant difference in terms of age, BMI and years of employment. Conclusions: The study has concluded that MSD is widely reported among software professionals working in the IT field in India. Hence, an appropriate prevention strategy needs to be carried out in order to enable them work comfortably.
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As an essential fat-soluble vitamin in human body, the main function of vitamin D (VD) is mediated by its receptor. In the past decade, VD has drawn gradual and consistent attention from the scientific community and health professionals. According to epidemiological survey, approximately one billion people are under the state of vitamin D insufficiency or deficiency in the world. This phenomenon is also very common in China. By participating in calcium and phosphorus absorption from GIT, VD stands as a very important functional immune regulator. It plays a vital role in modulating both innate and adaptive immune responses, mainly through the modulation of growth, differentiation and function of a variety of immune cells, and the influence of secretion of cytokines and antimicrobial peptides. VD deficiency and pediatric diseases such as acute lower respiratory infection and asthma are associated with not only pediatric skeletal disorders (including nutritional rickets，osteomalacla，and osteoporosis), but also pediatric non-skeletal disorders, such as mortality rate, cardiovascular disorders and mortality，metabolic syndrome (including obesity，impaired glucose tolerance (IGT), diabetes mellitus, lipid metabolism disorders and hypertension), cancer，infection，allergy and asthma, neurological and mental diseas-es，autoimmune diseases，and chronic kidney diseases. Although VD treatment of skeletal disorders has been widely recognized，its efficacy and long-term effect on non-skeletal disorders is not clear. Hence, for the benefit of general children and their families, aim of the present review is to determine some convincing facts of evidence-based medicine about Chinese children, and to discuss certain reasonable, right and effective measures to prevent VD deficiency thereby reducing the risk of rickets.
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La salud de los trabajadores y trabajadoras en Colombia atraviesa por múltiples retos y dificultades, derivados del contexto político y económico nacional, la encrucijada que vive el sistema de seguridad social y las tendencias en el mundo del trabajo. Frente a esta situación, la ergonomía como campo de conocimiento y acción tiene múltiples posibilidades de aporte, los cuales dependen de no ver esta disciplinada reducida a una dimensión técnica, sino de propiciar su participación en un marco de acción situada y contextualizada. Si bien se ha enfatizado la acción de la ergonomía en su aporte a la prevención de los desórdenes músculo-esqueléticos, su contribución a la salud de los trabajadores puede ser muy importante, en un escenario de búsqueda del bienestar laboral y social, como complemento a la acción preventiva de los riesgos laborales.
The health of workers in Colombia traverses multiple challenges and difficulties, starting from the national, political and economic context, crossroads living social security system and the trends in the world of work. Faced with this situation, the ergonomics as a field of knowledge and action has multiple possibilities of contribution, which depend on not to see this disciplined reduced to a technical dimension, but encourage their contribution within a framework of action located and contextualized. Although it has emphasized the action of ergonomics in its contribution to the prevention of muscle-skeletal disorders, their contribution to the health of workers can be very important, in a setting of search of the labor and social welfare as a complement to the prevention of occupational risks.
A saúde dos trabalhadores e trabalhadoras na Colômbia atravessa por múltiplos retos e dificuldades, derivados do contexto político e econômico nacional, a encruzilhada que vive o sistema de segurança social e as tendências no mundo do trabalho. Frente a esta situação, a ergonomia como campo de conhecimento e ação tem múltiplas possibilidades de aporte, os quais dependem de não ver esta disciplina reduzida a uma dimensão técnica, senão de propiciar seu aporte em um marco de ação situada e contextualizada. Se bem tem se enfatizado a ação da ergonomia em seu aporte à prevenção das desordens músculo esqueléticas, sua contribuição à saúde dos trabalhadores pode ser muito importante, em um cenário de busca de bem-estar laboral e social, como complemento à ação preventiva dos riscos laborais.
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Humanos , Saúde Ocupacional , Riscos Ocupacionais , Prevenção de Doenças , Ergonomia , Anormalidades MusculoesqueléticasRESUMO
Fundamentación: los trastornos músculo esquelético se encuentran entre los problemas más importantes de salud en el trabajo, los estomatólogos son un grupo de alto riesgo. Objetivo: describir los trastornos músculo esquelético de los estomatólogos y sus conocimientos sobre los principios ergonómicos. Metodología: se realizó un estudio descriptivo de corte transversal, de septiembre 2011 a julio de 2012 en el municipio de Sancti Spíritus. Se estudiaron 81 estomatólogos y las variables: presencia de dolor, tiempo de trabajo en el sillón dental, tratamiento médico recibido, trastornos músculo esqueléticos y conocimientos de principios ergonómicos. Para el análisis de los resultados se empleó el análisis porcentual. Resultados: los dolores en cuello, parte superior de espalda y hombros fueron los trastornos más frecuentes en períodos de siete días y un año incrementándose en correspondencia con las horas de trabajo en el sillón dental, además la mayoría de los estomatólogos estudiados desconoce los principios de ergonomía en su especialidad. Conclusiones: existen trastornos músculos esqueléticos que alcanzaron los mayores valores coincidiendo con el aumento de horas en sillón. Se evidenció desconocimiento por parte de los profesionales de los principios de ergonomía.
Background: Muscle skeletal disorders are one of the most important problems of health at work and dentists are a group at high risk. Objective: to describe the muscle skeletal disorders in dentists and their knowledge about the ergonomic principles. Methodology : A transversal descriptive work was carried out from September 2011 to July 2012 in Sancti Spíritus municipality. 81 dentists were studied and the variables were pain presence, time at work in the dentist's chair, medical treatment received, muscle skeletal disorders and knowledge about the ergonomic principles. For the analysis of the results the percentage analyses was used. Results: neck pain, upper part of the back and shoulders were the most frequent disorders in 7 days and 1 year periods increasing according to the hours at work in the dentist's chair, therefore the majority of dentists studied disclaim the principles of ergonomics. Conclusions : there are muscle skeletal disorders which reach major values according to the increase of hours in the dentist's chair. It was evidenced that there are doubts by the professionals about the principles of ergonomics.
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Humanos , Músculo Esquelético/lesões , Recursos Humanos em Odontologia/normas , ErgonomiaRESUMO
OBJECTIVES: Absenteeism due to musculo-skeletal disorders (MSDs) of workers is an important index of occupational health. Since research on its causes is rare in Korea, the risk factors for absenteeism due to MSDs should be studied. METHODS: Using the 2nd Korean working condition survey data, we investigated the prevalence of absenteeism due to MSDs. We also analyzed the risk factors for absenteeism by multiple logistic regression analysis in Korean employees. RESULTS: Prevalence of absenteeism due to MSDs was 0.7% in all employees, 0.5% in men, and 0.9% in women. In logistic regression analysis, gender, age, presence of a representative worker organization, working on tight deadlines, and pace of work dependent on automated equipment/machine were risk factors of absenteeism due to MSDs for both sexes. For males, working time, working at a very high speed were additional risk factors. For females, pace of work dependent on numerical production, performance, and targets were additional risk factors. Although not included in the multiple logistic regression analysis, handling heavy loads in both sexes and average monthly income for women were risk factors in the univariate analysis. CONCLUSIONS: For absenteeism due to MSDs, the presence of a representative worker organization, along with work pace and its determinants were important risk factors.
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Feminino , Humanos , Masculino , Absenteísmo , Manobra Psicológica , Coreia (Geográfico) , Modelos Logísticos , Saúde Ocupacional , Prevalência , Fatores de RiscoRESUMO
The results of the cross-sectional study on musculo-skeletal disorders in 125 tea-workers showed that the percentage of musculo-skeletal complaints was very high (98.4%). The most common parts affected by pain were: low back (90.4%), shoulders (55.2 - 57.6%), knees (53.6 - 56.0%), hands (45.6 - 48.0%), and wrists (31.2 - 34.4%). High frequency of operation, poor postures in some jobs as well as long working time influenced on musculo-skeletal disorders. The relation between seriousness of the disorders and the level of musculo-skeletal complaints was remarkable. Some recommendations were suggested aiming at reducing the adverse effects of occupational factors
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Doenças Musculoesqueléticas , Sistema MusculoesqueléticoRESUMO
Early detection of skeletal disorders was very important role in establishing therapeutic modality and prevention of complications. Since Tc-99m-phosphates derivatives used in bone scan agent, remarkable improvement was noted in effectiveness, cost, radiation hazard to patient and image quality than previously used agents such as strontium or fluoride. Bone scan with Tc-99m-MDP was done in 155 cases for early diagnosis of skeletal disorders at Severance Hospital, College of Medicine, Yonsei University from August, 1980 to May, 1982 were analyzed both clinically and radiologically, and the following results were obtained. l. Among 19 cases of avascular necrosis, positive cases were 17 (89.5%) in bone scan and 6(31.6%) in X-ray. Positive pattern could be classified into 3 types and the radionuclide uptake in the femoral head was decreased in 3 cases which was negative in X-ray and duration of their symptoms was within 4 months. 2. Fifteen among 17 hip fractures or dislocations were positive in bone scan. In 12 (80.0%) among 15 cases, complications were revealed and positive cases in X-ray were 7(58.3%), which were all positive in bone scan. 3. In 20 bone scans for early diagnosis of acute osteomyelitis, positive in bone scan were 17 and 14 (82.4%) of 17 cases were finally diagnosed as acute osteomyelitis. Among 15 cases diagnosed as acute osteomyelitis, positive in X-ray were 8(53.3%) and sensitivity of acute osteomyelitis in bone scan was 93.3%. 4. In 25 cases of the suspected infection of the joint, 15 were positive in bone scan and among them, cases diagnosed as pyogenic arthritis were 12 (80.0%) and positive in X-ray were 2 (16.7%). Only one of 10 cases of transient synovitis of the hip joint was positive in bone scan. 5. In rheumatoid arthritis, 13 of 15 cases were positive in bone scan and 10 among them were revealed the diffuse uptake of the radionuclide in the joint. In degenerative arthritis, 7 of 8 cases were positive in bone scan and they were revealed the focal uptake of the radionuclide in the same site where the bone was changed in x-ray. 6. Among 28 cases showed spine fracture in X-ray after trauma, 15 (53.6%) were positive in bone scan. In spine fracture, it was difficult to differentiate fresh fracture from old fracture with bone scan. The positive duration of bone scen in fracture of weight bearing bone was longer than in spine fracture. Rib fracture which was not found in X-ray could be diagnosed with bone scan.