Search results for "Skeletal disorder"
showing 10 items of 38 documents
Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas
2015
Multiple osteochondromas (MO) is an autosomal-dominant skeletal disorder caused by mutations in the exostosin-1 ( EXT1 ) or exostosin-2 ( EXT2 ) genes. In this study, we report the analysis of the mutational status of the EXT2 gene in tumor samples derived from a patient affected by hereditary MO, documenting the somatic loss of the germline mutation in a giant chondrosarcoma and in a rapidly growing osteochondroma. The sequencing of all exons and exon–intron junctions of the EXT1 and EXT2 genes from blood DNA of the proband did not reveal any mutation in the EXT1 gene but did demonstrate the presence of the transition point mutation c.67C > T in the EXT2 gene, determining the introduction …
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
2010
Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder with facial anomalies, osteoporosis and acro-osteolysis. We sequenced the exomes of six unrelated individuals with this syndrome and identified heterozygous nonsense and frameshift mutations in NOTCH2 in five of them. All mutations cluster to the last coding exon of the gene, suggesting that the mutant mRNA products escape nonsense-mediated decay and that the resulting truncated NOTCH2 proteins act in a gain-of-function manner.
Work Related Musculoskeletal Disorders (WRMSD) in Construction Workers and Main Causes
2017
Construction industry still is characterized with physically demanding work duties despite the ongoing modernization of new technology. Construction work requires physical and psychosocial effort, working in compulsory and awkward postures. WRMSD are the most common health problems among employees in construction. The aim of this study was to determine WRMSD reasons caused by physical load and psychosocial risks at work for painters and tilers in the construction enterprise. Results of the study shows that causes of WRMSD in employed in construction, are not only physical risks at work, but also psychosocial risks, as well as individual attitude towards one’s own health.
Musculoskeletal pain in professional symphony orchestra musicians
2021
Background: A musician’s many years of professional experience may contribute to the development of pain and musculoskeletal disorders. There are a few studies in Poland on gender differences in musculoskeletal pain among adult professional musicians. Aim of the study: This study aimed to assess and compare pain in Polish women and men who are professional musicians, as well as to analyze the relationships between the intensity and frequency of pain and the time spent playing each week and the experience of playing the instrument in years. Material and methods: Sixty professional musicians were examined (26 men and 34 women). Pain intensity was assessed using the visual analog scale (VAS). …
Intervención de ergonomía participativa en una empresa del sector químico A participatory ergonomics program in a chemical company
2012
Se describe una intervención de ergonomía participativa iniciada en abril de 2010 en una empresa del sector químico de la Comunidad Valenciana. Se presentó el programa de intervención en la empresa, se acordó el ámbito de la intervención (dos líneas, 24 trabajadores y trabajadoras) y se constituyó un grupo de trabajo (Grupo Ergo, formado por personas responsables, técnicos y delegados de prevención de la empresa) encargado de guiar la intervención. Se recogió mediante cuestionario información acerca de daños y riesgos ergonómicos en los trabajadores y trabajadoras de los puestos seleccionados. Esta información fue analizada por el Grupo Ergo y discutida posteriormente en círculos de prevenc…
Musculoskeletal disorders and incongruous postures in workers on ropes: A pilot study
2023
Background: Occupational hazards believed to cause musculoskeletal disorders in rope workers are traditionally associated with maintaining incongruous postures for prolonged periods of time. Design and methods: A cross-sectional survey was conducted on 132 technical operators in the wind energy and acrobatic construction sectors, who work on ropes, analysing the ergonomic characteristics of the environments, the way in which tasks are carried out, the strain perceived by individual workers, and assessing the presence of any musculoskeletal disorders (MSDs) by means of an objective examination focused on the anatomical districts that were the object of our study. Results: Analysis of the dat…
Intervención de ergonomía participativa en una empresa del sector químico
2012
ResumenSe describe una intervención de ergonomía participativa iniciada en abril de 2010 en una empresa del sector químico de la Comunidad Valenciana. Se presentó el programa de intervención en la empresa, se acordó el ámbito de la intervención (dos líneas, 24 trabajadores y trabajadoras) y se constituyó un grupo de trabajo (Grupo Ergo, formado por personas responsables, técnicos y delegados de prevención de la empresa) encargado de guiar la intervención. Se recogió mediante cuestionario información acerca de daños y riesgos ergonómicos en los trabajadores y trabajadoras de los puestos seleccionados. Esta información fue analizada por el Grupo Ergo y discutida posteriormente en círculos de …
Safety of red yeast rice supplementation: A systematic review and meta-analysis of randomized controlled trials.
2019
International audience; Recently, concerns regarding the safety of red yeast rice (RYR) have been raised after the publication of some case reports claiming toxicity. Since the previous meta-analyses on the effects of RYR were mainly focused on its efficacy to improve lipid profile and other cardiovascular parameters, we carried out a meta-analysis on safety data derived from the available randomized controlled clinical trials (RCTs). Primary outcomes were musculoskeletal disorders (MuD). Secondary outcomes were non-musculoskeletal adverse events (Non-MuD) and serious adverse events (SAE). Subgroups analyses were carried out considering the intervention (RYR alone or in association with oth…
Association between Neck/Shoulder Pain and Trapezius Muscle Tenderness in Office Workers
2014
Background. Neck/shoulder pain is a common musculoskeletal disorder among adults. The pain is often assumed to be related to muscular tenderness rather than serious chronic disease. Aim. To determine the association between neck/shoulder pain intensity and trapezius muscle tenderness in office workers. Methods. 653 employees from two large office workplaces in Copenhagen, Denmark, replied to a questionnaire on health and working conditions (mean: age 43 years, body mass index 24 kg·m−2, computer use 90% of work time, 73% women). Respondents rated intensity of neck/shoulder pain during the previous three months on a scale of 0–10 and palpable tenderness of the upper trapezius muscle on a sca…
A Randomised-Controlled Clinical Study Examining the Effect of High-Intensity Laser Therapy (HILT) on the Management of Painful Calcaneal Spur with P…
2021
Calcaneal spur and plantar fasciitis are the most common causes of plantar heel pain. There are many effective physical modalities for treating this musculoskeletal disorder. So far, the are no clear recommendations confirming the clinical utility of high-intensity laser therapy (HILT) in the management of painful calcaneal spur with plantar fasciitis. This study aimed to evaluate the effectiveness of HILT in pain management in patients with calcaneal spur and plantar fasciitis. A group of 65 patients was assessed for eligibility based on the CONSORT guidelines. This study was prospectively registered in the Australian New Zealand Clinical Trial Registry platform (registration number ACTRN1…