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Relevant bibliographies by topics / Musculoskeletal system Medical genetics

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Academic literature on the topic 'Musculoskeletal system Medical genetics'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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Journal articles on the topic "Musculoskeletal system Medical genetics"

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Baindurashvili, A. G., K. S. Solov’yova, A. V. Zaletina, and Yu A. Lapkin. "Congenital Abnormalities (developmental defects) and Musculoskeletal System Deformities in Children." N.N. Priorov Journal of Traumatology and Orthopedics 21, no. 3 (September 15, 2014): 15–20. http://dx.doi.org/10.17816/vto20140315-20.

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Data of RF Health Ministry official statistics, Federal Genetic Register and Congenital Defects Monitoring Center, and St. Petersburg Diagnostic (Medical Genetic) Center were analyzed. It is stated that within XVII Class of ICD-10 “Congenital abnormalities (developmental defects), deformities and chromosomal disorders” congenital malformations (developmental defects) and musculoskeletal system (MSS) deformities make up 20 - 22% and handicapped children account for 25 - 28%. The rate of MSS abnormalities diagnosed in maternity hospitals is 4.0 - 4.4 per 1000 of newborns. Rate and structure of MSS malformations in newborns and handicapped children was studied and compared. The number of handicapped children with various forms of MSS congenital developmental defects changes with age that reflects both progression of disease and deformity relapse as well as treatment efficacy. Rate indices and data on the structures of various forms of congenital developmental defects may be used for disability prognostication when planning the requirements in treatment and rehabilitation.

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Baindurashvili, A. G., K. S. Solov’Yova, A. V. Zaletina, and Yu A. Lapkin. "Congenital Abnormalities (developmental defects) and Musculoskeletal System Deformities in Children." Vestnik travmatologii i ortopedii imeni N.N. Priorova, no. 3 (September 30, 2014): 15–20. http://dx.doi.org/10.32414/0869-8678-2014-3-15-20.

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Data of RF Health Ministry official statistics, Federal Genetic Register and Congenital Defects Monitoring Center, and St. Petersburg Diagnostic (Medical Genetic) Center were analyzed. It is stated that within XVII Class of ICD-10 “Congenital abnormalities (developmental defects), deformities and chromosomal disorders” congenital malformations (developmental defects) and musculoskeletal system (MSS) deformities make up 20 - 22% and handicapped children account for 25 - 28%. The rate of MSS abnormalities diagnosed in maternity hospitals is 4.0 - 4.4 per 1000 of newborns. Rate and structure of MSS malformations in newborns and handicapped children was studied and compared. The number of handicapped children with various forms of MSS congenital developmental defects changes with age that reflects both progression of disease and deformity relapse as well as treatment efficacy. Rate indices and data on the structures of various forms of congenital developmental defects may be used for disability prognostication when planning the requirements in treatment and rehabilitation.

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Chien, Tzu-I., Huey-Wen Liang, Ya-Fen Lee, Fei-Yun Liu, Chi-Kwang Hsu, Shao-Tseng Liu, Mo Siu-Mei Lee, and Pin-Fei Wei. "Evaluation of Newly Developed Easy-Open Assistive Devices for Pneumatic Tube System Carriers for the Reduction of Work-Related Musculoskeletal Disorders." BioMed Research International 2021 (January 8, 2021): 1–12. http://dx.doi.org/10.1155/2021/8853602.

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Musculoskeletal disorders may affect labor efficiency, cause disability, impair one’s work ability, and lower one’s quality of life. This consequently leads to a larger expenditure of medical resources. We aimed to design easy-to-open assistive devices for pneumatic tube systems to improve ergonomics and reduce musculoskeletal complaints of workers. We followed a design control process, including designs of motors, gears, sensors, and V-shaped connecting rods. Efficacy was evaluated by examining risks based on job strain index, user satisfaction, and musculoskeletal complaints of operators before and after the system’s implementation on a Nordic musculoskeletal questionnaire. We designed three assistive devices: two semiautomatic and one automatic. Each semiautomatic device costs about 300 US dollars and required space of 10 × 18 × 38 c m 3 . The automatic device costs about 3000 US dollars and required space of 28 × 38 × 50 c m 3 . The job strain index score decreased from 36 (very high risk) to 3 (low risk) with the semiautomatic devices and to 0 with the automatic device. Musculoskeletal complaints in the neck and upper limbs were reduced, with a significantly higher satisfaction rate for female operators. Our novel design of an automatic cap opening device for a pneumatic tube system was effective in improving ergonomics and reducing musculoskeletal complaints.

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Vadakedom, Suresh S., Deepa K. Krishnan, Darly Saramma Mammen, Bindhu K. P., and Jiji Mary Antony. "Medical problems in children with Down syndrome." International Journal of Advances in Medicine 5, no. 5 (September 22, 2018): 1290. http://dx.doi.org/10.18203/2349-3933.ijam20183910.

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Background: Down syndrome (DS) is a major cause of mental retardation of prenatal origin and has several associated co-morbidities involving cardiovascular system, respiratory, endocrine system, hematological, gastrointestinal, musculoskeletal, eye and ear defects, immunological changes and neurological system. This study was conducted to identify the common medical problems in children with Down syndrome and the morbidity associated with these conditions. The objective of the present study was to find out the occurrence of different medical problems in children with DS.Methods: 42 children with a phenotype of Down syndrome in the age group of 0-12 years attending the outpatient, inpatient and Down syndrome Clinic of the Institute of Child Health, Kottayam during the study period were included in the study by purposive sampling. Demographic details were entered, and Pediatric Clinical Examination was performed by the investigator himself to identify the medical problems. Old medical reports were reviewed, and data entered into a proforma and statistically analysed.Results: Out of the 42 children with DS, 22 were males. 15 (35.7%) were less than 1 year, 20 (48.3%) children 1-5 years and 7 (16.1%) children 5-12 years of age. Mean age of the study group was 1.78±0.51 years. Mean age of their mothers at the time of conception was 30.6±5.8 years. 26 (57%) children with Down syndrome had a medical problem during the neonatal period which required hospitalization. Almost all systems are affected and craniofacial features, developmental delay and hypotonia were universal. Various forms of congenital heart diseases were observed in 67% and hypothyroidism in 23.8%.Conclusions: Down syndrome is a common genetic disorder with multisystem involvement. Congenital heart diseases, hypothyroidism and recurrent respiratory infections were the common medical problems identified in this study.

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Astrakhantseva, Maria A., Pavel F. Kiku, Sergey V. Voronin, and Anna V. Sukhova. "Prevention and diagnosis of congenital malformations." HEALTH CARE OF THE RUSSIAN FEDERATION 65, no. 3 (July 12, 2021): 230–37. http://dx.doi.org/10.47470/0044-197x-2021-65-3-230-237.

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The problem of inherited pathology remains relevant, gaining in recent decades and medical and biological and acute socio-economic importance. Purpose. To analyse statistical data on prevention and diagnosis of congenital malformations in Primorsky Krai. Material and methods. As a material of the study, the data of medical-genetic consultation and medical-genetic assistance were used. Information Federal State Statistics Service for the Primorsky Territory on the birth rate. The data were processed using descriptive statistics. Results. According to the study, during 2015-2017, within the framework of the budget 5561 (2015), 5537 (2016), and 5418 (2018), patients visited reception for the medical and genetic consultation and received the corresponding assistance. Most congenital malformation of compulsory registration was recorded in large urban districts (34.1-5.7%), and the remaining municipalities accounted for 0.2-3%. Diseases of the circulatory system, deformations of the musculoskeletal system, diseases of the urogenital system (frequency of occurrence 36.5%, 13.8%, 11.3%, respectively) dominated the structure of congenital malformations. The most common congenital malformations of mandatory registration identified during the prenatal screening - hypospadias and Down syndrome were identified. The most common congenital malformations identified during mass neonatal screening included hypothyroidism, phenylketonuria, cystic fibrosis. Conclusion. Possible reasons for the high level of congenital malformations in some areas of Primorsky Krai are lack of public awareness of the problem, environmental conditions, distance from the regional medical and genetic centre, lack of qualified specialists and modern equipment for research in municipal hospitals. However, proper medical and genetic counselling, prenatal diagnosis and monitoring play a critical role in the prevention of congenital malformations.

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García Hernández, I., L. Fernández de la Fuente Bursón, P. Muñoz Reinoso, D. V. Mendoza Mendoza, B. Hernández-Cruz, P. González Moreno, and J. J. Pérez Venegas. "AB1159 HIGH PREVALENCE MUSCULOSKELETAL PATHOLOGY: A CHALLENGE FOR PRIMARY ATTENDING PHYSICIANS. WHAT DO WE RHEUMATOLOGISTS CONTRIBUTE TO?" Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 1870.1–1870. http://dx.doi.org/10.1136/annrheumdis-2020-eular.4593.

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Background:Musculoskeletal Diseases (MSKD) represent one of the main health problems burdens worldwide. They cause a significant functional, quality of life and socioeconomic impact. Knee and lumbar osteoarthritis are the most prevalent1. MSKD can be assessed by different kind of specialists: Orthopedic and Traumatology Surgery (OTS), Rheumatology and Rehabilitation, each of them focused at one of the distinct aspects of the same disease. It is the General Practitioner (GP) consultations that usually act as a gateway to specialized care. However, this derivation is carried out in non-standardized manners that leads to an evaluation from a sometimes wrong selected specialist or sometimes overlap management between several of them2. The result is an endless waiting list in an overburden health system that cannot solve people’s health issues. In 2018, only in our area, 32.894 patients with MSKD were referred from GP to the different medical consultations: OTS (65%), Rehabilitation (25%) and Rheumatology (10%). Furthermore, there are specialized consultations called“Primary Trauma”to which GP can refer which are managed indistinctly by any of the 3 specialists mentioned before.Objectives:The following study aims to assess by collecting data in one of these consultations, how these pathologies are referred to the different specialist and the role that the rheumatologist plays in its management.Methods:From January to March 2019, 300 consecutive patients´ medical records from the HUVM area that were sent to “Primary Trauma” consultations and attended by a rheumatologist have been reviewed. The reason for consultation, tests and referrals requested, diagnoses reached and procedures and other therapeutic actions performed were collected. Descriptive statistics with percentages and mean are showed.Results:The average age of the patients was 51 years [7-88], 57% (170) women and 43% (130) men. The most frequent reasons for referral were knee pain (26), foot pathology (23%), low back pain (12%) and carpal tunnel syndrome (6%). 68% (204 patients) attended the consultation with some test already performed request in primary care, mostly radiographs (61%) and MRI scan (34%). After the first assessment during consultation, only 31% required new studies. The diagnoses that were most frequently established are showed in table 1: degenerative knee pathology (29%) was the most prevalent. 60% of the patients assessed were given exercise tables and/or postural recommendations. 14% received an infiltration on the same day of the visit. Only 78 patients (26%) needed to be reviewed later in those consultations. Of the remaining 222 (74%), 81 (27%) were referred to other specialists. 56 of them (19%) went to OTS to a surgical evaluation, most frequently of the knee (32%), hand (27%) and foot (23%). 141 (47%) were discharged and referred to GP´s for follow ups.Table 1.Diagnoses.N%Degenerative knee pathology6729Plantar support alterations3415Lumbar osteoarthritis198Deformities of the feet177Mechanical metatarsalgia125Plantar fasciitis94Carpal tunnel syndrome94Conclusion:The prevalence of MSKD found in medical consultation coincides with the national registers. Most patients did not need to be referred to surgical units. The role of the Rheumatologist is to take a comprehensive care for the patient, focusing on giving an effective evaluation and quick solution to his MSKD. In short, if the most prevalent MSKD are not subsidiary of surgical treatment (at least initially), the specialist whom patients with MSKD should be referred would be the rheumatologist.References:[1]EPISER2016: Estudio de la prevalencia de las enfermedades reumáticas en población adulta en España. Sociedad Española de Reumatología. Madrid, 2018.[2]Conill EM et al. Waiting lists in public systems: from expanding supply to timely access? Reflections on Spain’s National Health System. Cien Saude Colet. 2011;16:2783–94.Disclosure of Interests:Isabel García Hernández: None declared, Lola Fernández de la Fuente Bursón: None declared, Paloma Muñoz Reinoso: None declared, Dolores V. Mendoza Mendoza: None declared, Blanca Hernández-Cruz Speakers bureau: Abbvie, Lilly, Sanofi, BMS, STADA, Paz González Moreno: None declared, José Javier Pérez Venegas: None declared

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Amirova, T. Kh, R. A. Gubanov, I. I. Akhmetov, E. S. Egorova, Z. F. Khismatova, and L. M. Fatkhutdinova. "Epidemiological features and risk factors of non-scpecific low back pain in petrochemical enterprise workers." Kazan medical journal 97, no. 1 (February 15, 2016): 114–19. http://dx.doi.org/10.17750/kmj2016-114.

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Aim. To study the prevalence and incidence of new cases, and the role of risk factors such as PARK2 gene polymorphism and mechanical loads in non-specific low back pain development in workers of a large petrochemical enterprise.Methods. On a cross-sectional study by continuous sampling method (all factory workers - 580 people, the participation rate 87.6%) the prevalence of problems with the musculoskeletal system, including low-back pain was studied. Russian version of the Nordic questionnaire and the analysis of medical records were used. 228 people without any musculoskeletal system problems (the participation rate 82.4%) were selected for the 6-month prospective study. PARK2 gene rs926849 A/G polymorphism has been identified in 177 workers; epithelial cells of the oral cavity served as material for genetic analysis. The severity of the work process was evaluated in all workplaces. Multivariate statistical analysis was conducted by logistic regression method.Results. The prevalence of low back pain reached 38.7%; the incidence of new cases at 6 months was 13.3%. In case of genotype AA of PARK2 gene rs926849 polymorphism (compared with protective genotypes AG and GG) the low back pain was more common (OR=1.68, p=0.047). Another risk factor was age (OR=1.06, p=0.005). The presence of the «work severity» variable in the model increased the level of statistical significance of the «genotype» variable from p=0.055 to p=0.047, i.e. the association with the risk of low back pain increased.Conclusion. Hereditary predisposition and age play a significant role in the development of non-specific low back pain among workers; mechanical loads may increase the effect of a genetic predisposition, but do not have an independent etiologic importance.

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Gandhi, Pooja R., Hetal D. Vora, Halak J. Vasavada, Mehul T. Patelia, Pragneshkumar L. Popatiya, and Naznin Vora. "A study of gross congenital malformation at birth." International Journal of Contemporary Pediatrics 6, no. 3 (April 30, 2019): 1019. http://dx.doi.org/10.18203/2349-3291.ijcp20191022.

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Background: A congenital anomaly is a structural anomaly of any type that is present at birth. Congenital anomalies may be induced by genetic or environmental factors. Most congenital anomalies, however, show the familial patterns expected of multi-factorial inheritance. The aims and objective of this study were to study the incidence of visible congenital malformations at birth, to study risk factors, to find associated internal malformations.Methods: It is a retrospective cross-sectional study carried out in a tertiary care hospital affiliated to a medical college. The Inclusion criteria include all new-borns delivered in the hospital with visible congenital malformations examined within 48 hours of birth. Extramural babies were included if they had presented within 48 hours after birth. The Exclusion criteria include still births were excluded from the study.Results: Percentage of congenital malformation was 1.32%. Most common systems involved were musculoskeletal system (46.34%) followed by genitourinary system (21.34%) and gastrointestinal system (14.02%).Conclusions: All Babies with gross congenital malformation should be screened for internal malformation. The incidence of CNS malformation has reduced than observed in previous studies which suggest awareness about antenatal folic acid supplementation. Other than CNS anomalies, other system anomalies were not diagnosed antenatally despite antenatal ultrasound being done in maximum number of mothers, which suggest use of 3D or 4D scan antenatally.

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Mueller, A., and M. Roffler. "PARE0032 STRENGTHENING SELF-MANAGEMENT TO IMPROVE THE QUALITY OF LIFE AND HEALTH STATUS OF PATIENTS WITH INFLAMMATORY ARTHRITIS AND OSTEOPOROSIS IN SWITZERLAND." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 1302.2–1302. http://dx.doi.org/10.1136/annrheumdis-2020-eular.5220.

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Background:Previous UK studies suggest that people with arthritis taking part in self-management programmes feel more confident in their ability to manage and control their symptoms. These patients may also visit the doctor less frequently and have shown improved physical and clinical outcomes (1, 2). Based on this evidence, self-management has become an essential component of care for patients with arthritis, or generally with chronic diseases. However, there is still a huge gap regarding such self-management services and support programmes in rheumatology in Switzerland.In the Swiss National Strategy “Musculoskeletal Diseases” 2017–2022, strengthening patients’ empowerment is one of the main strategic pillars. Considering that approximately 500,000 people are suffering in Switzerland from inflammatory arthritis (IA) and osteoporosis (OP) alone, there is huge potential to strengthen patients’ self-management capacity and thus improve their quality of life (3).Therefore, the SLR has developed a self-management programme for IA and OP patients. In this programme medical assistants in outpatient rheumatology clinics are trained to consult patients in self-management. This programme is part of a two-year pilot project (2019–2020) that is supported by a consortium of important stakeholders in rheumatology in Switzerland.Objectives:The ultimate objective is to increase the quality of life and the health status of people with IA and OP in Switzerland by enhancing their capacity for self-management. Furthermore, this pilot project aims at closing an important gap in the Swiss healthcare system by creating an innovative model that can potentially be replicated for other chronic diseases.Methods:To measure the quality of life, the health status as well as the change in behaviour in patients, the study design includes both qualitative and quantitative methods. Patients enrolled in the programme are asked to answer a questionnaire at three points in time; at enrolment, after the last session and two months after completing the programme. It is expected that at least 45 patients will be enrolled. For a qualitative assessment, in-depth interviews will be conducted with rheumatologists and their medical assistants as well as some of the programme participants.The training material for the medical assistants was developed by the SLR and will be evaluated by the programme participants. All patients will also evaluate the quality of the consulting provided by the medical assistant, answering a questionnaire after the last session.Results:Within the first year of implementation, ten outpatient clinics, with twenty-four rheumatologists and twelve medical assistants, were enrolled in the pilot project. Four medical assistants were trained in 2019 and eight are in the process of receiving training in spring 2020. Only after the completion of training will patients be enrolled in the self-management programme. Therefore, outcome-related results cannot be expected until the beginning of 2021.Conclusion:This pilot project provides an innovative approach to closing an important gap in the Swiss healthcare system and to providing a missing component of care for patients with IA and OP. However, it has been challenging to enrol enough clinics in the pilot project. The way the programme is embedded in the current healthcare system, it demands a cultural change within outpatient clinics, allowing medical assistants to step into a new role as consultant.References:[1]Barlow JH, Turner, Wright (2000). ‘A randomised controlled study of the arthritis self-management programme in the UK’. Health Ed Res 15(6): 665–80.[2]De Silva, D. (2011). Evidence: Helping people help themselves. A review of the evidence considering whether it is worthwhile to support self-management. The Health Foundation. London.[3]Swiss League against Rheumatism (2017). Swiss National Strategy ‘Musculoskeletal Diseases’ 2017–2022. Zurich: 10–13.Disclosure of Interests:None declared

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Baranov, A. A., L. S. Namazova- Baranova, R. N. Terletskaya, and E. V. Antonova. "PROBLEMS OF CHILDREN'S DISABILITY IN MODERN RUSSIA." Annals of the Russian academy of medical sciences 72, no. 4 (September 6, 2017): 305–12. http://dx.doi.org/10.15690/vramn823.

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Creation of system of early prophylaxis of children disability and support of the families bringing up disabled children and children with limited opportunities are among the main priorities of the Russian Federation state social policy. There are a number of problems requiring immediate solutions. Dynamics of children’s disability in our country is characterized by process stagnation. The age and gender structure of children’s disability practically doesn’t change. The analysis of its nosological structure shows that alienations and disorders of behavior, illness of a nervous system and congenital anomalies of development steadily occupy more than 60% among the illnesses which caused disability of children of all age groups. There was a decrease in the prevalence of total disability in most classes of diseases, such as injuries, diseases of the genitourinary system, respiratory system, musculoskeletal system, digestive system and growth of disability caused by neoplasms and diseases of the endocrine system. The underestimation of children’s disability bound to various reasons is supposed: social motivation of a family, complexity of legal veneering, strict requirements of service of medico-social examination, insufficient medical experts awareness on criteria of disability. Among disability formations risk factors the most discussed are the achievements of perinatology leading to improvement of nursing of prematurely born and small newborns, and wide uses of auxiliary genesial technologies. An important part of all preventive measures aimed at reducing the genetic load of population is prenatal and preimplantation diagnosis. It seems appropriate to extend the screening to congenital and hereditary metabolic diseases in neonatal period, including the most common nosological forms of infrequent illnesses. In solving problems of childhood disability prevention a priority should be given to development of services of family planning; improving antenatal and perinatal care; preventive work with healthy but having deviations in development children; development of medical genetic services; implementation of programs of different types of pathology screening.

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Dissertations / Theses on the topic "Musculoskeletal system Medical genetics"

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Garner, Brian Alan. "A Musculoskeletal model of the upper limb based on the medical image dataset of the visible human male /." Digital version accessible at:, 1998. http://wwwlib.umi.com/cr/utexas/main.

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Perry, Robert L. S. Rudnicki Michael. "Requirement of MyoD for myogenic lineage maintenance and regulation of skeletal muscle terminal differentiation by the MAPK signaling pathway /." *McMaster only, 2003.

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Bard, Amanda E. "The Effectiveness of Resistance Exercises in the Management of Medial Tibial Stress Syndrome." Scholarship @ Claremont, 2013. http://scholarship.claremont.edu/scripps_theses/279.

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Medial tibial stress syndrome (MTSS) is a stress and overuse injury that presents as pain on the medial aspect of the lower two-thirds of the tibia. It is most often caused by repetitive actions on hard surfaces such as running, marching, and dancing. Individuals most affected by MTSS are runners, members of the military, dancers, and athletes that play soccer, volleyball and basketball. While MTSS has a relatively standard presentation of pain on the medial aspect of the tibia, it can occasionally be mistaken for other injuries such as stress fractures or compartment syndrome. If a diagnosis is unsure, methods such as x-ray, bone-scan, and MRI can be utilized to better obtain the correct diagnosis. A variety of treatments exist for MTSS including, ice, massage, muscle strengthening, and rest. A combination of these various techniques is most often what is employed. In this study, the effectiveness of a set of resistance ankle exercises in combination with ice and massage was tested and compared to that of ice and massage alone. The hypothesis was that athletes receiving the exercises as part of their treatment, in addition to the icing and massaging, would have a greater decrease in pain from MTSS than athletes just receiving ice and massage as treatment. The exercises would strengthen the muscles of the lower leg that, when weak, can contribute to the development of MTSS. Results indicated that the exercises yielded a more significant decrease in pain from MTSS than ice and massage alone.

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Bloom, Connor. "The Feasibility of Whole-Blood-System Genotyping: A Case Study using the San Diego Blood Bank." Scholarship @ Claremont, 2019. https://scholarship.claremont.edu/cmc_theses/2110.

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Over the past several decades and increasingly in recent years, blood transfusions in the United States have plummeted as surgery has gotten more precise and less invasive. Alongside this decrease in general transfusions has been an increase in specific blood products for patients whose immune systems require special treatment. Simultaneously, trends in healthcare in the United States have incentivized regional hospitals to join large conglomerates. These coexisting factors have left regional blood banks, traditionally economically viable, in much weakened states. This thesis was born out of an initial curiosity to discover whether or not genetic science, and genotyping in particular, could benefit small regional blood banks by allowing them to bring down their costs of pre-transfusion blood testing or offer new products. I focus on the San Diego Blood Bank (SDBB) as a case study of the larger blood banking industry. In the course of this research, economic factors were taken into consideration as well as social and health. A minor question that was also discussed was whether genotyping not only help regional blood banks survive fiscally but also open the gateway to better patient outcomes and lower costs nationally of blood transfusions and their associated costs. Feasibility analyses and financial modeling suggest support for genotyping blood donors and transfusion recipients in order to more perfectly match blood transfusions through extended antigen matching.

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Flanagan, Shawn D. "Neurological Basis of Persistent Functional Deficits after Traumatic Musculoskeletal Injury." The Ohio State University, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=osu1469031876.

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Simpson, Kirsty Mairi. "The development of a novel and efficient HAC vector delivery system to human cells." Thesis, University of Oxford, 2008. http://ora.ox.ac.uk/objects/uuid:3ebefa0e-ee34-41ed-90ca-10ddd97d214a.

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Human Artificial Chromosomes (HACs) have been confirmed as viable gene expression vectors and a potential tool for gene therapy. However, standard lipid-based delivery methods pose a developmental barrier. The work presented in this thesis includes the development of a novel and efficient HAC vector system for gene delivery into human cells using Herpes Simplex Virus-1 (HSV-1) amplicon technology. The development of HSV-1 amplicons for HAC delivery is a major step forward in the HAC field. In this study, utilising the technology allowed the generation of HACs at a high efficiency in a range of human cell types, which is a significant step in the development for HAC gene expression systems. Further work also showed a significant difference in HAC stability between cell lines. Real-time PCR analysis determined that Aurora B was over expressed in cell lines in which the HACs were unstable. This correlated with high levels of chromosomal instability and was confirmed by western blot analysis. Since Aurora B is a kinase involved in at least two cell cycle checkpoints, cellular phosphorylation levels were perturbed to mimic that observed in the unstable cells, using okadaic acid, which is both a protein phosphatase inhibitor and activates Aurora B. Treatment of cells showed an increase in both HAC and overall chromosomal instability and an increase in histone H3 Serine 10 and Serine 28 phosphorylation. The project also focussed on the development of a gene expression system using HSV-1 amplicons. Two different strategies were explored. Firstly, one approach involved engineering the HPRT genomic locus into an HSV-HAC vector, by Red mediated recombination for complementing the HPRT deficiency in HPRT- HT1080 cells. As an alternative approach, co-infection of two different HSV-1 HAC amplicons for generating a single HAC gene vector was investigated. Initial experiments utilising the latter approach were the most successful and show promise for generating HAC containing genes via this strategy.

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Schneidereit, Dominik [Verfasser], Oliver [Akademischer Betreuer] Friedrich, Oliver [Gutachter] Friedrich, and Boris [Gutachter] Martinac. "Novel Opto-Biomechatronics System Technologies in the Cardio- and Musculoskeletal Environment of Medical and Life Sciences / Dominik Schneidereit ; Gutachter: Oliver Friedrich, Boris Martinac ; Betreuer: Oliver Friedrich." Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2021. http://d-nb.info/1226428142/34.

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Bennett, Ryan. "Association Tests of the Opioid Receptor System and Alcohol-Related Traits." VCU Scholars Compass, 2009. http://scholarscompass.vcu.edu/etd/1993.

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The opioid receptors and their endogenous ligands have long been implicated in a variety of traits including addiction, impulsive behaviors and substance dependence. Using phenotypic measurements collected from the IASPSAD, data from a latent class analysis and data from a SNP array and additional genotyping assays, association and regression tests were performed to determine the effects of common SNPs encoded in the genes of the opioid receptors and ligands on various traits relating to alcohol dependence. Although only one SNP can be reported as significant for substance dependence within alcoholics, there were a few results approaching significance that may offer some insight into variation within alcoholism.

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Acharyya, Swarnali. "Elucidating molecular mechanisms of muscle wasting in chronic diseases." Columbus, Ohio : Ohio State University, 2007. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1180096565.

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Alhazmi, Aiman. "Role of Nucleosome Remodeling Factor (NURF) in Tumorigenesis Using a Breast Cancer Mouse Model." VCU Scholars Compass, 2012. http://scholarscompass.vcu.edu/etd/379.

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Understanding the impact of epigenetic mechanisms on tumorigenesis is essential, as epigenetic alterations are associated with tumor initiation and progression. Because epigenetic changes are reversible, they are potential targets for cancer therapy. Nucleosome Remodeling Factor (NURF) is a chromatin-remodeling complex that regulates gene expression by changing nucleosome positioning along the DNA sequence. Previous studies have shown a role for NURF in embryonic development as well as regulating genes involved in tumor progression. In this work we investigated the impact of eliminating NURF function in tumorigenesis in vivo. BALB/c mice challenged with syngeneic 67NR breast cancer cell lines, injected into the mammary fat pad, lacking NURF, due to knockdown of its essential subunits Bptf, showed reduction in tumor growth comparing to control tumors. The observed reduction in tumor growth was abrogated in immunodeficient mice lacking a functional immune system. Bptf KD and control 67NR cells grew at similar rates in vitro. Similar findings were observed in our lab using 66cl4 breast cancer cell lines. Using immunofluorescence staining, no significant difference in CD8+, CD4+, NK and MDSC cells infiltrations into the tumor microenvironment was observed in 66cl4 tumors. Preliminary results from 67NR tumors suggested more CD4+ and CD8+ cells. Gene expression profile of tumor tissues from BALB/c mice injected with 67NR and 66cl4 cell lines showed enrichment of genes associated with immune response. Our findings suggested a role of the immune system in targeting tumor cells lacking Bptf in vivo.

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Books on the topic "Musculoskeletal system Medical genetics"

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Parker, James N., and Philip M. Parker. Soto syndrome: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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Grant, Cooper. Medical acupuncture for musculoskeletal medicine. Philadelphia: Lippincott Williams & Wilkins, 2010.

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T, Bui-Mansfield Liem, and Kline Mitchell J, eds. Musculoskeletal imaging. Philadelphia: Lippincott Williams & Wilkins, 2003.

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The Arthritis and Rheumatism Council for Research. An introduction to the musculoskeletal system: A handbook for medical students. Chesterfield, England: The Arthritis and Rheumatism Council, 1991.

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Gross, Jeffrey M. Musculoskeletal examination. 3rd ed. Chichester, UK: Wiley-Blackwell, 2009.

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Peterson, Jeffery J. Image-guided musculoskeletal intervention. Philadelphia: Saunders / Elsevier, 2008.

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Ivan, Bojanić, ed. Overuse injuries of the musculoskeletal system. 2nd ed. Boca Raton, Fla: CRC Press, 2004.

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Ivan, Bojanić, ed. Overuse injuries of the musculoskeletal system. Boca Raton, FL: CRC Press, 1993.

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C, Roberts Catherine, and Lalaji Anand P, eds. Musculoskeletal imaging: A teaching file. 2nd ed. Philadelphia: Lippincott Williams & Wilkins, 2006.

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Gross, Jeffrey M. Musculoskeletal examination. 4th ed. Chichester, West Sussex: John Wiley & Sons, 2015.

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Book chapters on the topic "Musculoskeletal system Medical genetics"

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Bisker, Jeffrey. "Musculoskeletal System." In Clinical Applications of Medical Imaging, 171–84. Boston, MA: Springer US, 1986. http://dx.doi.org/10.1007/978-1-4684-5083-5_11.

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Hodgson, Shirley V., William D. Foulkes, Charis Eng, and Eamonn R. Maher. "Musculoskeletal System." In A Practical Guide to Human Cancer Genetics, 167–76. London: Springer London, 2013. http://dx.doi.org/10.1007/978-1-4471-2375-0_9.

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Çilesiz, I. "Value of Infrared Radiometry to Medical Laser Applications with Reference to Temperature Feedback and Tissue Welding Options." In Lasers in the Musculoskeletal System, 18–24. Berlin, Heidelberg: Springer Berlin Heidelberg, 2001. http://dx.doi.org/10.1007/978-3-642-56420-8_3.

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Gilles, Benjamin, Laurent Moccozet, and Nadia Magnenat-Thalmann. "Anatomical Modelling of the Musculoskeletal System from MRI." In Medical Image Computing and Computer-Assisted Intervention – MICCAI 2006, 289–96. Berlin, Heidelberg: Springer Berlin Heidelberg, 2006. http://dx.doi.org/10.1007/11866565_36.

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Leskošek, B. L., J. Dimec, K. Geršak, and P. Ferk. "A research information system (RIS) for breast cancer genetics." In XII Mediterranean Conference on Medical and Biological Engineering and Computing 2010, 851–54. Berlin, Heidelberg: Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-642-13039-7_215.

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"Cancers of the musculoskeletal system." In Oxford Desk Reference: Oncology, edited by Thankamma Ajithkumar, Ann Barrett, Helen Hatcher, and Sarah Jefferies, 308–28. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780198745440.003.0011.

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Primary malignant tumours of bone are rare and comprise a large number of histological subtypes. The most common are osteosarcoma, Ewing’s family of tumours, and chondrosarcoma. Each of these has further subgroups which will be discussed in detail under their subheadings. The remaining subgroups are exceptionally rare and include the presentation of spindle cell sarcoma of bone, e.g. malignant fibrous histiocytoma (MFH), within the bone as a primary lesion. MFH of bone is treated as other primary bone tumours. Soft tissue sarcomas represent a rare collection of heterogeneous tumours characterized by malignant growth of mesenchymal tissue. Different subgroups can be divided by genetics, pathology, anatomical location, and clinical behaviour. Less than 1% of malignant tumours with an incidence of 30 per million per annum. Median age at presentation depends on histological subtype. For example, rhabdomyosarcomas are most common in children and adolescents, whereas leiomyosarcomas predominate over the age of 40. This chapter covers cancers of musculoskeletal system. Topics include bone tumours overview; osteosarcoma (metastatic, non-metastatic, and recurrent); Ewing’s sarcoma; rare bone tumours; soft tissue sarcomas (management of localized disease, and of locally advanced and metastatic disease); retroperitoneal sarcoma; gastrointestinal stromal tumours; and future directions.

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Zouhir, Abderrahman, and Abdulqadir Abdulkarim. "Musculoskeletal system." In Medical Arabic, 132–63. Routledge, 2020. http://dx.doi.org/10.4324/9781003020622-4.

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Manger, Bernhard. "Inherited metabolic diseases." In Oxford Textbook of Rheumatology, 1451–56. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0170.

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A variety of hereditary disorders can present with structural or functional alterations of the musculoskeletal system. In particular, genetic defects within enzymatic pathways involved in the lysosomal degradation of various substrates can manifest with bone or joint symptoms. Because musculoskeletal complaints are frequently the first reason for the patient to seek medical advice, the rheumatologist may play a crucial role in the early diagnosis of these diseases. Lysosomal storage diseases are a heterogeneous group of individually very rare disorders, but taken together they have a prevalence of more than 1 in 8000 live births. Some of these lysosomal storage diseases can nowadays be treated very effectively by enzyme replacement therapies; however, a timely start of treatment is essential to avoid irreversible organ damage and deterioration of the quality of life. Therefore, the rheumatologist should be able to recognize signs and symptoms of the most frequent treatable lysosomal storage diseases.

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Sant, Sudhir. "Musculoskeletal System." In Embryology for Medical Students, 86. Jaypee Brothers Medical Publishers (P) Ltd., 2008. http://dx.doi.org/10.5005/jp/books/10252_9.

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Garg, Gobind, and Sparsh Gupta. "Musculoskeletal System." In Review of Pathology and Genetics, 557. Jaypee Brothers Medical Publishers (P) Ltd., 2016. http://dx.doi.org/10.5005/jp/books/12865_18.

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Conference papers on the topic "Musculoskeletal system Medical genetics"

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Baum, Zachary, Tamas Ungi, Andras Lasso, and Gabor Fichtinger. "Usability of a real-time tracked augmented reality display system in musculoskeletal injections." In SPIE Medical Imaging, edited by Robert J. Webster and Baowei Fei. SPIE, 2017. http://dx.doi.org/10.1117/12.2255897.

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Zbijewski, W., P. De Jean, P. Prakash, Y. Ding, J. W. Stayman, N. Packard, R. Senn, et al. "Design and optimization of a dedicated cone-beam CT system for musculoskeletal extremities imaging." In SPIE Medical Imaging, edited by Norbert J. Pelc, Ehsan Samei, and Robert M. Nishikawa. SPIE, 2011. http://dx.doi.org/10.1117/12.878077.

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Zbijewski, W., A. Sisniega, J. J. Vaquero, A. Muhit, N. Packard, R. Senn, D. Yang, J. Yorkston, J. A. Carrino, and J. H. Siewerdsen. "Dose and scatter characteristics of a novel cone beam CT system for musculoskeletal extremities." In SPIE Medical Imaging, edited by Norbert J. Pelc, Robert M. Nishikawa, and Bruce R. Whiting. SPIE, 2012. http://dx.doi.org/10.1117/12.911843.

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Tkacova, M., P. Foffova, J. Zivcak, and R. Hudak. "The methodics of medical thermography in the diagnostics of the human body musculoskeletal system." In 2010 IEEE 8th International Symposium on Applied Machine Intelligence and Informatics (SAMI 2010). IEEE, 2010. http://dx.doi.org/10.1109/sami.2010.5423719.

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Petrella, Anthony, John Rasmussen, Amir Al Munajjed, Michael Damsgaard, Morten Lund, and Arne Kiis. "How Good is Good Enough? Lessons in Musculoskeletal Model Validation With the Anybody Modeling System." In ASME 2013 Conference on Frontiers in Medical Devices: Applications of Computer Modeling and Simulation. American Society of Mechanical Engineers, 2013. http://dx.doi.org/10.1115/fmd2013-16163.

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In the last two decades a steady evolution has taken place in the realm of musculoskeletal simulation, which is now taking an increasingly central role in guiding ergonomics evaluations, influencing medical device design, and informing clinical decisions. Musculoskeletal simulation holds tremendous promise to help bring safer, more innovative products to market more quickly and to drive optimized, patient-specific care. But, to effectively deliver on these challenging goals, both the software and the models created from it must meet high expectations for verification and validation so that critical choices influenced by simulation can be made with confidence. Verification is the job of the software developer, but due to the breadth of modeling applications, the task of validation falls to the user. Rigorous model validation is time consuming and often technically difficult. And so, the question arises, in the context of both verification and validation, “How good is good enough?” The goal of this paper is to offer a response to that question. The discussion will be complemented by relevant validation examples from the open literature pertaining to one commercial musculoskeletal simulation software, the AnyBody Modeling System (AMS).

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Kayo, Munehiro Michael, and Yoshiaki Ohkami. "Multi-Body Modeling of Human Musculoskeletal System for an Exercise Therapy Method and its Verification." In ASME 2013 Conference on Frontiers in Medical Devices: Applications of Computer Modeling and Simulation. American Society of Mechanical Engineers, 2013. http://dx.doi.org/10.1115/fmd2013-16101.

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The objective of this paper is to establish a concise structural model of the human musculoskeletal system (HMS) that can be applied to an exercise therapy that treats malfunctions or distortions of the human body. There exist a number of traditional exercise therapy methods in Japan and China, but any systematic approaches for learning, coaching or training are not found to the best of the author’s knowledge. Among such approaches, we deal with an exercise therapy called Somatic Balance Restoring Therapy (SBRT) in which a patient executes a series of non-invasive and painless motions in face-up/down laid posture. Although thousands of results have been piled up in a fixed-format data base, justification for the SBRT has not been provided in bio/mechanical engineering sense. The purpose of modeling is a first step for this holistic approach. For such reasons, the model must be useful and uncomplicated for therapists to identify the problematic areas of the human body with adequate visualization while maintaining a theoretical thoroughness in mechanics or dynamics. To bridge multi-body dynamics and the SBRT, we have utilized a human body model with a collection of joint connected 15 rigid bodies in a topological tree configuration as used for humanoid robot with 80 Degrees-of-Freedom (DOF). In order to achieve the purpose stated above, we have developed a static force/torque balance equation for each body element. In addition, we will describe modeling processes, derivation of static equations, and estimation of parameters/states and verification based on the analysis of the FPS experimental data, and contact forces are parameterized with quantitative values to be given by the Force Plate System (FPS), installed at CARIS at the University of British Columbia (UBC).

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Johnson, Hilary, Sally Miller, Prianca Tawde, Bethany LaPenta, Daniel Teo, Thomas Cervantes, Nishaki Mehta, and Alexander Slocum. "A Novel Lead Garment Structural System to Alleviate Orthopedic Stress for Surgeons." In 2018 Design of Medical Devices Conference. American Society of Mechanical Engineers, 2018. http://dx.doi.org/10.1115/dmd2018-6920.

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Cardiovascular, orthopedic, and interventional radiology procedures using fluoroscopy require healthcare professionals to wear heavy lead garments for radiation protection, sometimes for up to 12 hours per day. Wearing lead garments for prolonged periods of time can lead to musculoskeletal injuries, discomfort, and fatigue. MobiLead is a mobile lead garment frame that was developed to reduce the weight supported by the user in an effort to mitigate these problems. The MobiLead system moves the lower garment load off the user’s body to a structural ground-supported frame and redistributes the upper load from the shoulders to the hips through a torso frame. The system is compact and maximizes the limited space available in operating rooms, while still giving the surgeon adequate mobility for various emergency procedures. Preliminary analysis of device effectiveness was conducted using electromyography and qualitative surgeon user feedback surveys. This paper will discuss the design, fabrication, and testing procedures for this mobile radiation protection system optimizing both support and mobility.

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Kolyado, A., M. Ivleva, W. Kolyado, A. Lazarenko, and D. Timofeeva. "Disability of the Adult Population of a Large Agro-Industrial Region Caused by Diseases of the Musculoskeletal System: Epidemiological, Medical, and Social Aspects." In International Scientific and Practical Conference on Education, Health and Human Wellbeing (ICEDER 2019). Paris, France: Atlantis Press, 2020. http://dx.doi.org/10.2991/iceder-19.2020.77.

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Kayo, Munehiro Michael, and Yoshiaki Ohkami. "Structural Modeling of the Human Musculoskeletal System for Clinical Treatment by Applying Joint-Connected Multibody Dynamics and System Approach." In ASME 2010 International Mechanical Engineering Congress and Exposition. ASMEDC, 2010. http://dx.doi.org/10.1115/imece2010-40065.

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The objective of this paper is to establish a concise structural model of the human musculoskeletal system (HMS) that can be used to clinically treat malfunctions or distortions of the human body. This model must be uncomplicated for therapists to identify the problematic areas of the human body with adequate visualization while maintaining a theoretical thoroughness in mechanics. To achieve this objective, a system theory approach called the Interpretive Structural Modeling (ISM) has been applied to bridge multi-body dynamics and clinical observations. From a mechanical engineering viewpoint, this HMS system can be treated as a collection of joint connected 15 rigid bodies in a topological tree configuration with 35 Degrees-of-Freedom (DOF). Alternatively, from a clinical viewpoint, the functioning of the joints is a major concern since most malfunctions or distortions take place around the joints. Based on 20 years of accumulated clinical observation data, we have discovered that all HMS movements can be constructed by a combination of 35 fundamental motion elements, all having a certain degree of interaction with each other. By applying the ISM for a matrix representation of the HMS system, we have obtained the following results: 1) The association between the rotation of the joints and the fundamental motion elements is represented by a square matrix of dimension N, where N is twice of the DOF 2) The determinant of this matrix, corresponding to the N-square matrix in SE terminology, gives an evaluation criteria in selecting the fundamental elements; 3) Application of the ISM reveals a distinction between an active motion element with intention versus an associated motion element that is induced by another motion element(s). In addition, the ISM yields a tiered structure of the fundamental motion elements according to the degree of activeness; and 4) most important, an overall investigation of the matrix characteristics gives a means to identify imbalances or distortions within the HMS. With the help of a motion diagram for the purpose of visualization, this research can eventually be applied to clinical observations whereby an automated identification of malfunctioning parts can be achieved with computer software. The above stated results will contribute to a holistic and non-invasive approach for medical care and rehabilitation.

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Afsar, Md Rayhan, Michael Wadsworth, Tao Shen, He Zhang, Cang Ye, and Xiangrong Shen. "A Motorized Robotic Walker for Human Walking Assistance." In 2017 Design of Medical Devices Conference. American Society of Mechanical Engineers, 2017. http://dx.doi.org/10.1115/dmd2017-3501.

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Impaired mobility is ranked as one of the most important factors that have both physical and mental impacts on patients’ life [1]. The impacts are especially serious for the rapidly expanding elderly population in the United States, which is expected to reach 71 million, approximately 20% of the total population, by 2030 [2]. Existing assistive tools, such as cane and walker/rollator, are helpful for such mobility-challenged individuals by providing additional support in walking. However, such tools also disrupt the users’ walking rhythm and increase their metabolic energy consumption. Wheelchairs, especially powered wheelchairs, are also used extensively among this population. Although wheelchairs are effective in transporting patients, they largely preclude the users’ lower limb muscle activities and bone load-carrying, and accelerate the musculoskeletal degeneration of the user’s lower limb [3]. To address the issues with existing assistive tools, the authors developed a new motorized robotic walker for mobility-challenged users. With the objective of assisting the users’ ambulation in a safe and convenient way, the robotic walker features two independently controlled wheels for the maneuverability of the robot, and two parallel bars for the user support in walking. Unlike similar robotic walkers in prior works (e.g. [4]), no wearable sensors are required for the user. Instead, a 3D computer vision system is used to measure the relative position of the user versus the robot, and the control commands are generated accordingly. The details of the robot design and control are presented in subsequent section.

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