Journal articles: '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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Li, D., H. Lu, J. Dunphy, T. Smith, E. Vital, I. N. Bruce, and N. Mchugh. "SAT0182 THE ASSOCIATION BETWEEN AUTOANTIBODIES AND RITUXIMAB RESPONSE IN SYSTEMIC LUPUS ERYTHEMATOSUS." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 1032.2–1032. http://dx.doi.org/10.1136/annrheumdis-2020-eular.4284.

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Background:Systemic Lupus Erythematosus (SLE) is clinically and immunologically heterogeneous with a variable response to treatment. MASTERPLANS is an MRC-funded consortium that seeks to identify immunophenotypic subgroups of patients that predict response to therapy. Autoantibody profiles can differentiate subgroups of patients and have potential to predict response to treatment.Objectives:To determine whether known and novel autoantibodies are associated with response to rituximab (RTX), and analyse the association between these antibodies and disease involvement in various organ systems.Methods:Serum was obtained from 224 SLE patients in the BILAG Biologics Registry who received rituximab according to NHS England criteria (2). Patients were recruited if they were starting a first cycle of rituximab for active SLE (BILAG A or 2xBILAG B) despite previous cyclophosphamide or mycophenolate mofetil. Evidence of any single organ system involvement previous or current was taken as having a BILAG score of A-D but not E. Disease activity was measured using BILAG-2004. Clinical response was defined as improvement by >=1 grade in active BILAG-2004 systems with no worsening in other systems. Autoantibodies were measured by immunoprecipitation of proteins by sera from35S-labelled K562 cell lines, followed by SDS-PAGE separation and autoradiography. Autoantibodies not able to be detected by this technique (anti-Ro52, anti-dsDNA and aCL) were measured by ELISA. Autoantibody data was analysed in IBM SPSS and GraphPad Prism v8.2. Association between autoantibodies and RTX response was analysed using binary logistic interaction terms and Pearson’s Chi-Square test.Results:Of the 224 patients (201 female, 23 male, median age 40 years) the most common system involvement from the 9 BILAG domains was musculoskeletal (164 patients) and the least ophthalmic (11 patients). Patients with anti-Ro52 and anti-U1RNP/Sm had more frequent involvement of mucocutaneous (p<0.036,p<0.012) and musculoskeletal domains (p<0.015 for U1RNP) respectively.There were 136 patients with sufficient data to define as either responders (n=67) or non-responders (n=69) to RTX at 6 months. RTX responders had a higher frequency of anti-U1RNP/Sm compared to non-responders (Figure 1). Further Pearson’s Chi-Square analysis showed a significant association between presence of anti-U1RNP/Sm and better response to RTX (p<0.018).Conclusion:Our findings suggest that the presence of U1RNP/Sm autoantibodies in a cohort of patients who have received treatment with RTX is associated with more frequent musculoskeletal and mucocutaneous involvement and predicts a more favourable response to treatment.Acknowledgments :Funded by a grant from the Medical Research Council, grant number MR/M01665X/1. BILAG BR has been funded by unrestricted educational donations from Roche, GSK and LUPUS UK. Part-funded by a grant from LUPUS UK.Disclosure of Interests: :Danyang Li: None declared, Hui Lu: None declared, Juliet Dunphy: None declared, Theresa Smith: None declared, Edward Vital Grant/research support from: AstraZeneca, Roche/Genentech, and Sandoz, Consultant of: AstraZeneca, GSK, Roche/Genentech, and Sandoz, Speakers bureau: Becton Dickinson and GSK, Ian N. Bruce Grant/research support from: Genzyme Sanofi, GSK, and UCB, Consultant of: Eli Lilly, AstraZeneca, UCB, Iltoo, and Merck Serono, Speakers bureau: UCB, Neil McHugh: None declared

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Jia, Yuxi, Cong Zhu, Jingcheng Du, Yang Xiang, Yong Chen, Wei Wang, and Cui Tao. "Investigating safety profiles of human papillomavirus vaccine across group differences using VAERS data and MedDRA." PeerJ 7 (August 20, 2019): e7490. http://dx.doi.org/10.7717/peerj.7490.

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Background The safety of vaccines is a critical factor in maintaining public trust in national vaccination programs. This study aimed to evaluate the safety profiles of human papillomavirus (HPV) vaccines with regard to the distribution of adverse events (AE) across gender and age, and the correlations across various AEs using the Food and Drug Administration/Centers for Disease Control and Prevention Vaccine Adverse Event Reporting System (VAERS). Methods For analyses, 27,348 patients aged between 9 and 25 years old with at least one AE reported in VAERS between the year of 2006 and 2017 were included. AEs were summarized into two levels: the lower level preferred term (PT) and higher level system organ classes (SOCs) based on the structure of Medical Dictionary for Regulatory Activities (MedDRA). A series of statistical analyses were applied on both levels of AEs. Zero-truncated Poisson regression and multivariate logistic regression models were first developed to assess the rate and risk of SOCs across age groups and genders. Pairwise Pearson correlation analyses and hierarchical clustering analyses were then conducted to explore the interrelationships and clustering pattern among AEs. Results We identified 27,337 unique HPV vaccine reports between 2006 and 2017. Disproportional reporting of AEs was observed across age and gender in 21 SOCs (p < 0.05). The correlation analyses found most SOCs demonstrate weak positive correlations except for five pairs which were negatively correlated: skin and subcutaneous tissue disorders + injury poisoning and procedural complications; skin and subcutaneous tissue disorders + nervous system disorders; Skin and subcutaneous tissue disorders + pregnancy, puerperium and perinatal conditions; nervous system disorders + pregnancy, puerperium and perinatal conditions; pregnancy, puerperium and perinatal conditions + general disorders and administration site conditions. Nervous system disorders had the most AEs which contributed to 12,448 (46%) cases. In the further analyses of correlations between PT in nervous system disorders, the three most strongly correlated AEs were psychiatric disorders (r = 0.35), gastrointestinal disorders (r = 0.215), and musculoskeletal and connective tissue disorders (r = 0.261). We observed an inter-SOCs correlation of the PTs among AE pairs by nervous system disorders/psychiatric disorders/gastrointestinal disorders/musculoskeletal and connective tissue disorders. Conclusions The analyses revealed a different distribution pattern of AEs across gender and age subgroups in 21 SOC level AEs. Correlation analyses and hierarchical clustering analyses further revealed several correlated patterns across various AEs. However, findings from this study should be interpreted with caution. Further clinical studies are needed to understand the heterogeneity of AEs reporting across subgroups and the biological pathways among the statistically correlated AEs.

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Kim, Kyoung-Tae, Young-Seok Lee, and Inbo Han. "The Role of Epigenomics in Osteoporosis and Osteoporotic Vertebral Fracture." International Journal of Molecular Sciences 21, no. 24 (December 11, 2020): 9455. http://dx.doi.org/10.3390/ijms21249455.

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Osteoporosis is a complex multifactorial condition of the musculoskeletal system. Osteoporosis and osteoporotic vertebral fracture (OVF) are associated with high medical costs and can lead to poor quality of life. Genetic factors are important in determining bone mass and structure, as well as any predisposition for bone degradation and OVF. However, genetic factors are not enough to explain osteoporosis development and OVF occurrence. Epigenetics describes a mechanism for controlling gene expression and cellular processes without altering DNA sequences. The main mechanisms in epigenetics are DNA methylation, histone modifications, and non-coding RNAs (ncRNAs). Recently, alterations in epigenetic mechanisms and their activity have been associated with osteoporosis and OVF. Here, we review emerging evidence that epigenetics contributes to the machinery that can alter DNA structure, gene expression, and cellular differentiation during physiological and pathological bone remodeling. A progressive understanding of normal bone metabolism and the role of epigenetic mechanisms in multifactorial osteopathy can help us better understand the etiology of the disease and convert this information into clinical practice. A deep understanding of these mechanisms will help in properly coordinating future individual treatments of osteoporosis and OVF.

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Semyachkina, А. N., E. А. Nikolaeva, А. R. Zabrodina, and L. P. Melikyan. "THE CLASSIC TYPE OF EHLERS–DANLOS SYNDROME: DIFFERENTIAL DIAGNOSIS AND PECULIARITIES OF PATIENT MANAGEMENT." Pediatria. Journal named after G.N. Speransky 100, no. 5 (October 11, 2021): 62–69. http://dx.doi.org/10.24110/0031-403x-2021-100-5-62-69.

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The Classic Ehlers–Danlos syndrome (cEDS) is an autosomal dominant hereditary disease caused by type V collagen defect. The incidence of pathology is estimated at 1:20,000 of the population. The results of a long-term (15 years) follow-up of a group of patients (n=18) with cEDS, including 5 boys and 13 girls aged from 3 to 18 years, are presented. The diagnosis was made based on the presence of 2 large and 5 small international diagnostic criteria in all patients. The progreduated character of the disease is shown, which is most obvious in the dynamics of the state of the musculoskeletal system. Genetic verification of the diagnosis was performed in 6 patients; 5 probands had mutations in the COL5A1 gene, and one in the COL5A2 gene. Mutations already registered in the database were detected only in 2 children. Previously unknown substitutions were found in 4 patients. The article presents the issues of differential diagnosis of this severe pathology and touches upon the issue of continuity between medical pediatric specialists and doctors of various specialties working with the adult population.

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Honcu, Pavla, Petr Zach, Jana Mrzilkova, Dobroslava Jandova, Vladimir Musil, and Alexander Martin Celko. "Computer Kinesiology: New Diagnostic and Therapeutic Tool for Lower Back Pain Treatment (Pilot Study)." BioMed Research International 2020 (August 24, 2020): 1–10. http://dx.doi.org/10.1155/2020/2987696.

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The aim of this study was to demonstrate the effectiveness of the diagnostic and therapeutic medical information system Computer Kinesiology in physiotherapy in patients with low back pain who were not responding to conventional therapy. Computer Kinesiology is primarily intended for the diagnostics and therapy of functional disorders of the locomotor system. This pilot study population included 55 patients (Group 1) with acute and chronic back pain and 51 persons (Group 2) without back pain. The third group was a control group of 67 healthy volunteers with no evidence of musculoskeletal pathologies and no back pain. All 173 subjects were examined three times by the diagnostic part of the Computer Kinesiology method. Groups 1 and 2 were treated after every diagnostics. Group 3 was not treated. The effect was evaluated by H score. Improvements after therapy were defined by reducing the H score by at least 1 point. In Group 1, the H score decreased by at least 1 point in 87.3% (95% CI: 75.5-94.7) and in Group 2 in 78.4% (95% CI: 64.7-88.7). There was no change of distribution of H Score grade in Group 3. The improvement neither depended on gender, age, and BMI nor was it influenced by the length of the therapy. This study demonstrated a high therapeutic efficacy of the Computer Kinesiology system in patients with back pain (Group 1) and in persons without back pain (Group 2) who used the Computer Kinesiology system for primary and secondary prevention of back pain.

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Dumitru, Irina Magdalena, Nicoleta Dorina Vlad, Sorin Rugina, Nicoleta Onofrei, Sabina Gherca, Marian Raduna, Aurel Trana, et al. "SARS-CoV-2 Infection and Emery-Dreifuss Syndrome in a Young Patient with a Family History of Dilated Cardiomyopathy." Genes 12, no. 7 (July 14, 2021): 1070. http://dx.doi.org/10.3390/genes12071070.

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Emery–Dreifuss muscular dystrophy (EDMD) is a rare genetic disease that affects the musculoskeletal system, including the heart, causing rhythm disorders and cardiomyopathy, sometimes requiring an implantable cardioverter-defibrillator (ICD) or heart transplantation due to severe heart damage. The case described herein concerns a 16-year-old girl, with grade II obesity, without other known pathological antecedents or cardiac pathology diagnosis given an annual history of cardiological investigations. She was admitted to the Infectious Diseases Department with SARS-CoV-2 virus infection. The anamnesis showed that the cardiological investigations performed in the past were completed due to the medical history antecedents of her sister, who had been diagnosed with dilated cardiomyopathy, having undergone the placement of an ICD and a heart transplant. Numerous investigations were performed during hospitalization, which revealed high levels of high-sensitive cardiac troponin I (hs-cTnI), creatine kinase (CK) and N-terminal pro b-type natriuretic peptide (NT-proBNP). Dynamic electrocardiographic evaluations showed ventricular extrasystoles, without clinical manifestations. The patient presented stage 2 arterial hypertension (AHT) during hospitalization. A cardiac ultrasound was also performed, which revealed suspected mild subacute viral myocarditis with cardiomyopathy, and antihypertensive medication was initiated. A heart MRI was performed, and the patient was diagnosed with dilated cardiomyopathy, refuting the suspicion of viral subacute myocarditis. After discharge, as the patient developed gait disorders with an impossible heel strike upon walking and limitation of the extension of the arms and ankles, was hospitalized in the Neurology Department. Electrocardiograms (ECGs) were dynamically performed, and because the rhythm disorders persisted, the patient was transferred to the Cardiology Department. On Holter monitoring, non-sustained ventricular tachycardia (NSVT) was detected, so antiarrhythmic treatment was initiated, and placement of an ICD was subsequently decided and was diagnosed with EDMD. Genetic tests were also performed, and a mutation of the lamin A/C gene was detected (LMNA gene exon 2, variant c448A > C (p.Thr150pro), heterozygous form, AD).

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Geremia, Caterina, Maria Antonietta De Ioris, Alessandro Crocoli, Ottavio Adorisio, Raffaella Scrocca, Mary Haywood Lombardi, Susanna Staccioli, et al. "Totally Implantable Venous Access Devices in Children with Medical Complexity: Preliminary Data from a Tertiary Care Hospital." Journal of Vascular Access 18, no. 5 (May 24, 2017): 426–29. http://dx.doi.org/10.5301/jva.5000727.

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Introduction Children with special health-care needs are an emerging and consistent population. In a subset of children with medical complexity (CMC) a continuous access to the central vascular system is advisable to eliminate unnecessary pain and stress and to improve home management and palliative care. Methods The surgical registry of a tertiary hospital was checked in order to identify CMC who underwent totally implantable venous access device (VAD) placement. Medical records were reviewed. Results From October 2009 to August 2014, a totally implantable VAD was placed in 10 children. Seven out of 10 patients were affected by cerebral palsy while 3 presented a genetic syndrome. The median duration of the indwelling catheter was 31 months (range 5 to 77 months). Six catheters are still in place since the first placement. Infectious complications were observed in two patients, respectively, a Candida albicans and a Staphylococcus aureus colonization; in both cases the VAD was removed. In another two cases, removal was planned for reservoir dislodgment within the subcutaneous tissue. No other major complications were observed during the procedure and the follow-up period. Emergency admissions decreased from a median value of 0.4/month (range 0-1.5/month) to 0.2/month (range 0-0.6/month) after the VAD placement. Conclusions A totally implanted VAD in CMC is safe and manageable. As expected, infection seems to be the major complication with no infection-related death. Malnutrition and musculoskeletal deformities, which are frequent comorbidities in CMC, should be considered to reduce the risk of dislodgment/migration.

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Lin, Lee, Lo, Tu, Chang, Chang, Chiu, et al. "An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan." Diagnostics 9, no. 4 (October 5, 2019): 140. http://dx.doi.org/10.3390/diagnostics9040140.

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Background: The mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs) and which eventually cause progressive damage to various tissues and organs. We developed a feasible MPS screening algorithm and established a cross-specialty collaboration platform between medical geneticists and other medical specialists based on at-risk criteria to allow for an earlier confirmative diagnosis of MPS. Methods: Children (<19 years of age) with clinical signs and symptoms compatible with MPS were prospectively enrolled from pediatric clinics between July 2013 and June 2018. Urine samples were collected for a non-specific total GAG analysis using the dimethylmethylene blue (DMB) spectrophotometric method, and the quantitation of three urinary GAGs (dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS)) was performed by liquid chromatography/tandem mass spectrometry (LC-MS/MS). The subjects with elevated urinary GAG levels were recalled for leukocyte enzyme activity assay and genetic testing for confirmation. Results: Among 153 subjects enrolled in this study, 13 had a confirmative diagnosis of MPS (age range, 0.6 to 10.9 years—three with MPS I, four with MPS II, five with MPS IIIB, and one with MPS IVA). The major signs and symptoms with regards to different systems recorded by pediatricians at the time of the decision to test for MPS were the musculoskeletal system (55%), followed by the neurological system (45%) and coarse facial features (39%). For these 13 patients, the median age at the diagnosis of MPS was 2.9 years. The false negative rate of urinary DMB ratio using the dye-based method for these 13 patients was 31%, including one MPS I, two MPS IIIB, and one MPS IVA. However, there were no false negative results with urinary DS, HS and KS using the MS/MS-based method. Conclusions: We established an at-risk population screening program for MPS by measuring urinary GAG fractionation biomarkers using the LC-MS/MS method. The program included medical geneticists and other medical specialists to increase awareness and enable an early diagnosis by detecting MPS at the initial onset of clinical symptoms.

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Ngoie, Leonard Banza, Eva Dybvik, Geir Hallan, Jan-Erik Gjertsen, Nyengo Mkandawire, Carlos Varela, and Sven Young. "Prevalence, causes and impact of musculoskeletal impairment in Malawi: A national cluster randomized survey." PLOS ONE 16, no. 1 (January 6, 2021): e0243536. http://dx.doi.org/10.1371/journal.pone.0243536.

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Background There is a lack of accurate information on the prevalence and causes of musculoskeletal impairment (MSI) in low income countries. The WHO prevalence estimate does not help plan services for specific national income levels or countries. The aim of this study was to find the prevalence, impact, causes and factors associated with musculoskeletal impairment in Malawi. We wished to undertake a national cluster randomized survey of musculoskeletal impairment in Malawi, one of the UN Least Developed Countries (LDC), that involved a reliable sampling methodology with a case definition and diagnostic criteria that could clearly be related to the classification system used in the WHO International Classification of Functioning, Disability and Health (ICF) Methods A sample size of 1,481 households was calculated using data from the latest national census and an expected prevalence based on similar surveys conducted in Rwanda and Cameroon. We randomly selected clusters across the whole country through probability proportional to size sampling with an urban/rural and demographic split that matched the distribution of the population. In the field, randomization of households in a cluster was based on a ground bottle spin. All household members present were screened, and all MSI cases identified were examined in more detail by medical students under supervision, using a standardized interview and examination protocol. Data collection was carried out from 1st July to 30th August 2016. Extrapolation was done based on study size compared to the population of Malawi. MSI severity was classified using the parameters for the percentage of function outlined in the WHO International Classification of Functioning (ICF). A loss of function of 5–24% was mild, 25–49% was moderate and 50–90% was severe. The Malawian version of the EQ-5D-3L questionnaire was used, and EQ-5D index scores were calculated using population values from Zimbabwe, as a population value set for Malawi is not currently available. Chi-square test was used to test categorical variables. Odds ratio (OR) was calculated with a linear regression model adjusted for age, gender, location and education. Results A total of 8,801 individuals were enumerated in 1,481 households. Of the 8,548 participants that were screened and examined (response rate of 97.1%), 810 cases of MSI were diagnosed of which 18% (108) had mild, 54% (329) had moderate and 28% (167) had severe MSI as classified by ICF. There was an overall prevalence of MSI of 9.5% (CI 8.9–10.1). The prevalence of MSI increased with age, and was similar in men (9.3%) and women (9.6%). People without formal education were more likely to have MSI [13.3% (CI 11.8–14.8)] compared to those with formal education levels [8.9% (CI 8.1–9.7), p<0.001] for primary school and [5.9% (4.6–7.2), p<0.001] for secondary school. Overall, 33.2% of MSIs were due to congenital causes, 25.6% were neurological in origin, 19.2% due to acquired non-traumatic non-infective causes, 16.8% due to trauma and 5.2% due to infection. Extrapolation of these findings indicated that there are approximately one million cases of MSI in Malawi that need further treatment. MSI had a profound impact on quality of life. Analysis of disaggregated quality of life measures using EQ-5D showed clear correlation with the ICF class. A large proportion of patients with moderate and severe MSI were confined to bed, unable to wash or undress or unable to perform usual daily activities. Conclusion This study has uncovered a high prevalence of MSI in Malawi and its profound impact on a large proportion of the population. These findings suggest that MSI places a considerable strain on social and financial structures in this low-income country. The Quality of Life of those with severe MSI is considerably affected. The huge burden of musculoskeletal impairment in Malawi is mostly unattended, revealing an urgent need to scale up surgical and rehabilitation services in the country.

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More, Vibha Subhash, Annal Abhay Vaidya, S. V. Parelkar, and Madhva Prasad. "Study of congenital fetal malformations among antenatal women in a tertiary care centre." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 7, no. 4 (March 27, 2018): 1505. http://dx.doi.org/10.18203/2320-1770.ijrcog20181344.

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Background: Congenital malformations are morphological or functional anomalies that occur in the prenatal period as a result of genetic mutation, chromosomal abnormalities and adverse intrauterine environment. Early recognition is important. If congenital malformations are detected beyond the period of legal limit for medical termination of pregnancy, it carries immense burden on the pregnant woman.Methods: A descriptive observational study was conducted as a retrospective analysis of patient-records, over a span of 9 consecutive months in the Department of Obstetrics and Paediatric Surgery, at a tertiary care centre, Mumbai. The project was carried out to study demographic profiles, risk factors and system-wise distribution of pregnant women carrying malformed fetus.Results: The average annual incidence rate was 29 per 1000 deliveries. Of 151 patients, renal malformations were the commonest accounted for 40% of all congenital malformations. This was followed by central nervous system 32%, cardiovascular 14%, gastrointestinal 8% and musculoskeletal 3%. Congenital malformations were more common in multigravida than primigravida. 92% of congenital malformations were detected beyond 20 weeks of gestation. Previous abortions, hypothyroidism and raised sugars were associated high risk factors.Conclusions: The diagnosis of congenital malformation using ultrasonography occurs at a later gestational age than 20 weeks. For these patients a combined approach of the obstetrician/neonatologist/paediatric surgeon allows better counselling of parents and to permit preparation of the team to optimize neonatal outcomes.

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Singh, N., I. Huang, M. Singleton, A. Bays, J. Sabo, S. Chung, G. Gardner, et al. "POS1422 CORRELATES OF TESTING POSITIVE FOR SARS-COV-2 IN PATIENTS WITH RHEUMATIC AD MUSCULOSKELETAL DISEASES." Annals of the Rheumatic Diseases 80, Suppl 1 (May 19, 2021): 994.2–994. http://dx.doi.org/10.1136/annrheumdis-2021-eular.858.

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Background:Many studies on COVID-19 outcomes in patients with RMD have either restricted to COVID positive RMD patients or compared them to the general clinic population as a comparator. Given heterogeneity in behaviors and risks, clinical characteristics associated with a positive diagnosis among patients with RMD seeking testing for Sars-CoV-2 remain less well studied.Objectives:Among patients with RMD receiving a Sars-CoV-2 PCR test, we aimed to identify RMD-related factors associated with a positive test result.Methods:Among patients seen at least once in the University of Washington (UW) rheumatology clinics between March 2018 to March 2020, we reviewed electronic medical records to identify patients undergoing Sars-CoV-2 PCR testing from March 1 through October 31, 2020. Patients with RMD were categorized into two groups: those who tested positive for Sars-CoV-2 and those who tested negative. We randomly selected patients from the negative group in a 2:1 ratio for further data abstraction. Student’s t-test and Chi-squared tests were used to compare continuous and categorical variables, respectively, between the groups. To determine the correlates of testing positive for Sars-CoV-2, specifically RMD medication use and disease activity, we constructed different multivariable logistic regression models adjusted for age, sex, race/ethnicity, presence of comorbidities, body mass index, and smoking.Results:A total of 2768 RMD patients underwent SARS-CoV-2 PCR testing within the UW system, of whom 43 (1.5%) were positive at least once. Three patients with incomplete information were excluded. Patients who tested positive had higher prevalence of end stage renal disease (ESRD)/chronic kidney disease (CKD) (24% versus 11%), had higher rates of active disease (24% versus 20%), were older (>55 years) (mean age 57.3 versus 54.8 years), male (63% versus 55%), non-white race/ethnicity (32% versus 26%), and higher prevalence of multiple comorbidities (42% versus 31%) (Table 1). In the multivariable models, neither RMD medication use (versus no use, Table 1) nor high disease activity (vs low disease activity/remission) were statistically significantly associated with COVID-19 positivity. Among the 41 COVID-19 positive patients, a majority recovered without specific treatments, although approximately one third of the positive patients were hospitalized and three deaths were observed.Conclusion:In this study, patients who tested positive did not differ in many ways from those who tested negative.Table 1.Baseline characteristics of the patients prior to COVID testingVariablesAll(N=126)COVID Positive (N=41)COVID Negative(N=85)P valueAge in years – mean (SD)55.6 (15.3)57.3 (16.3)54.8 (14.9)0.40Sex0.39 Male73 (57.9)26 (63.4)47 (55.3) Female53 (42.1)15 (36.6)38 (44.7)Race0.39 White89 (71.2)26 (63.4)63 (74.1) Other race35 (28.2)13 (31.7)22 (25.9) Missing2 (1.6)2 (4.9)0 (0.0)Rheumatic disease0.64 OA/Crystal/Fibromyalgia37 (29.4)11 (26.8)26 (30.6) RA/SpA32 (25.4)9 (22.0)23 (27.1) All others57 (45.2)21 (51.2)36 (42.3)Rheumatic disease activity0.57 Active27 (21.4)10 (24.4)17 (20.0) Not active99 (78.6)31 (75.6)68 (80.0)Co-morbidities Diabetes mellitus (%)25 (19.8)9 (22.0)16 (18.8)0.68 Hypertension48 (38.1)20 (48.8)28 (32.9)0.09 Cardiovascular disease23 (18.3)9 (22.0)14 (16.5)0.46 Lung disease25 (19.8)10 (24.4)15 (17.7)0.37 Cancer10 (7.9)3 (7.3)7 (8.2)0.86 ESRD/CKD19 (15.1)10 (24.4)9 (10.6)0.04*BMI: Body mass index; SD: Standard deviation; OA: Osteoarthritis; Crystal: Crystalline diseases; RA: Rheumatoid arthritis; SpA: SpondyloarthritisAcknowledgements:The work in this study was supported by grant UL1 TR002319 to Dr Singh from the Institute of Translational Health Sciences of the University of Washington.Disclosure of Interests:None declared

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Siracusa, Rosalba, Rosanna Di Paola, Salvatore Cuzzocrea, and Daniela Impellizzeri. "Fibromyalgia: Pathogenesis, Mechanisms, Diagnosis and Treatment Options Update." International Journal of Molecular Sciences 22, no. 8 (April 9, 2021): 3891. http://dx.doi.org/10.3390/ijms22083891.

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Fibromyalgia is a syndrome characterized by chronic and widespread musculoskeletal pain, often accompanied by other symptoms, such as fatigue, intestinal disorders and alterations in sleep and mood. It is estimated that two to eight percent of the world population is affected by fibromyalgia. From a medical point of view, this pathology still presents inexplicable aspects. It is known that fibromyalgia is caused by a central sensitization phenomenon characterized by the dysfunction of neuro-circuits, which involves the perception, transmission and processing of afferent nociceptive stimuli, with the prevalent manifestation of pain at the level of the locomotor system. In recent years, the pathogenesis of fibromyalgia has also been linked to other factors, such as inflammatory, immune, endocrine, genetic and psychosocial factors. A rheumatologist typically makes a diagnosis of fibromyalgia when the patient describes a history of pain spreading in all quadrants of the body for at least three months and when pain is caused by digital pressure in at least 11 out of 18 allogenic points, called tender points. Fibromyalgia does not involve organic damage, and several diagnostic approaches have been developed in recent years, including the analysis of genetic, epigenetic and serological biomarkers. Symptoms often begin after physical or emotional trauma, but in many cases, there appears to be no obvious trigger. Women are more prone to developing the disease than men. Unfortunately, the conventional medical therapies that target this pathology produce limited benefits. They remain largely pharmacological in nature and tend to treat the symptomatic aspects of various disorders reported by the patient. The statistics, however, highlight the fact that 90% of people with fibromyalgia also turn to complementary medicine to manage their symptoms.

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Ivanova, M. K., A. N. Bakshaeva, E. P. Kuznetsova, E. V. Osipova, E. V. Mikhajlova, and E. V. Kostromitina. "Intrauterine development of fetus in the conditions of oil technogenesis." Toxicological Review, no. 3 (July 18, 2021): 56–64. http://dx.doi.org/10.36946/0869-7922-2021-29-3-56-64.

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The oil industry is a leader in the negative impact on all areas of the natural environment. Polluting the atmospheric air, soil, surface and underground waters, oil production processes expose the population living in the adjacent territory to the dangerous effects of xenobiotics. The reproductive system is the most sensitive to environmental problems.The aim of the study was to identify the features of the intrauterine development of fetuses of women living in the territory of oil technogenesis in comparison with the fetuses of women living in a territory without it. A comparative assessment of the frequency of blastogenesis defects in the studied groups was carried out as a result of the analysis of embryological protocols of women who received infertility treatment using methods of assisted reproductive technologies. In order to assess the frequency and structure of defects in embryogenesis and fetogenesis, an analysis of cases of congenital malformations was carried out according to the data of the primary medical documentation of the Medical Genetic Consultation.The identification of differences in the development of embryos was determined by the Pearson agreement criterion. Assessment of statistically significant differences in indicators in the study of the frequency and structure of congenital anomalies in fetuses identified by ultrasound and in newborns, the structure of factors that influenced the mother during pregnancy, which could lead to the development of congenital anomalies and complications of the course of pregnancy, was carried out using t-Student's criterion. Defects of cleavage and blastulation of embryos of women in the observation group were revealed. It was found that the frequency of birth of children with congenital anomalies in the territories of oil technogenesis is statistically significantly higher than in the territories without it. In the observation group, congenital anomalies of the respiratory system detected by ultrasound examination of the fetus, congenital anomalies of the genitals, urinary organs, musculoskeletal systems, multiple malformations revealed antenatally are statistically significantly more common.

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Mtir, M., D. Cherif, H. Kchir, H. Hassine, and N. Maamouri. "P653 Rheumatic extraintestinal manifestations in ulcerative colitis : Prevalence and predictive factors." Journal of Crohn's and Colitis 15, Supplement_1 (May 1, 2021): S583. http://dx.doi.org/10.1093/ecco-jcc/jjab076.773.

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Abstract Background Ulcerative colitis (UC) are an inflammatory condition affecting the gastrointestinal tract. They are considered as chronic disease with complex genetic, immune and environmental components. UC are not exclusive to the gastrointestinal system as they have been identified to be associated with extraintestinal manifestations (EIM) that encompass every other organ in the human body including musculoskeletal system. The aim of this study was to evaluate the prevalence and predictive factors of rheumatic EIM among patients with UC. Methods We carried out a retrospective study from January 2000 to December 2018 including all patients with UC. A complete rheumatologic examination, osteodensitometry,lumbosacral and sacroiliac X-rays were performed.The variables retrospectively analyzed were: gender, age,habits, location and extension of the disease, biochemical markers, other EIM, and previous immunosuppressive therapy. We investigated associations between rheumatic manifestations and clinical and biological criteria. Results Seventy eight patients were included in our study with an average age of 47,56 years [24–85 years]. Sex ratio M/F 0,85. Rheumatic manifestations of any type were present in 42,3%(33 of 78). Peripheral arthritis were observed in 3,8%. Axial involvement including sacroiliitis (SI), with or without spondylitis was noticed in 8,97%. Bone mineral loss was present in 25,6% with 13 cases of osteopenia and 7 cases of osteoporosis. Three patients (3,8%) had an association of SI and osteoporosis. No cases of enthesopathy have been reported. Otherwise, univariate and multivariate logistic regression methods testing for each predictor and their possible association with rheumatic manifestations among UC had shown a decreased risk for rheumatic manifestations with an age over 40 years (p=0,018), an hepatobiliary disorders such as the presence of hepatic cytolysis (p=0,034) and cholestasis (p=0,017) , the coexistence of dermatologic EIM (p=0,048). Forms complicated with an acute severe ulcerative colitis are likely to be correlated with rheumatologic manifestations (p=0,039) but location and extension of the disease had not shown any significant association. And finally, patients who underwent systemic corticosteroid treatment were highly associated with a decreased risk for rheumatic manifestations (p=0,044). Conclusion Predictive factors involved in the occurrence of rheumatic manifestations are: an advanced age, presence of other EIM, severe forms and the use of steroid. Regular screening for EIM and early use of biological therapies may prevent the development of musculoskeletal involvement . Medical care for patients with UC should be multidisciplinary involving the coordination between rheumatologists and gastroenterologists .

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Desdiani, Desdiani, Hidayat Rizal, Anindita Basuki, and Fadilah Fadilah. "Case Report: Delayed treatment of tuberculosis of the elbow joint." F1000Research 10 (June 18, 2021): 486. http://dx.doi.org/10.12688/f1000research.53488.1.

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Extrapulmonary tuberculosis (TB) is known to occur in the musculoskeletal system, including the elbow joints. These cases are rarely found because the signs and symptoms are not specific to extrapulmonary TB or other diseases. We report a case of a 24-year-old male, who complained about pain in his left elbow and noticed swelling. Initially, he complained about pain all over his left arm, after several reflexology massages to alleviate his toothache. However, instead of seeking medical treatment, he visited a traditional massage therapist every week without improvement in his left arm pain for almost one year. Examination showed skin perforation with discharge. He also had fever during the first few days when the elbow became swollen. Weight loss and a decreased appetite were also noticed by the patient. The patient went to the orthopedic department and underwent surgery. Radiological examination indicated bone erosion on the left humerus and radius, while posteroanterior chest X-ray did not show any abnormality. Histopathological examinations from biopsy and fluid aspiration showed granulomas and datia Langhans cells. Mycobacterium tuberculosis was found on acid-fast bacteria smear and culture. The patient was administered multidrug tuberculosis therapy, which consisted of two months of an intensive phase and seven months of a continuation phase, in accordance with the World Health Organization’s guidelines for extrapulmonary tuberculosis treatment. He has currently undergone the continuation phase of the treatment and his condition has improved. Early detection of tuberculosis of the elbow can prevent damage to joint structure and impairment of joint function.

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Vivekanantham, A., D. Prieto-Alhambra, and D. E. Robinson. "POS1098 PREVALENT COMORBIDITIES ASSOCIATED WITH CLINICALLY DIAGNOSED OSTEOARTHRITIS: A CASE-CONTROL ANALYSIS INCLUDING 1,936,792 PEOPLE." Annals of the Rheumatic Diseases 80, Suppl 1 (May 19, 2021): 829.1–829. http://dx.doi.org/10.1136/annrheumdis-2021-eular.3202.

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Background:Osteoarthritis (OA) is the most common form of arthritis and a major cause of pain and disability worldwide. Individuals with OA have increased cardiovascular morbidity and mortality, and other comorbidities are also more common amongst them than in the general population. In this study, we examined the prevalence and timing of the diagnosis of co-morbidities prior to the clinical diagnosis of OA.Objectives:To determine the odds of comorbidities in newly diagnosed OA cases versus matched controls in the up to 10 years prior to diagnosis.Methods:Case-control study of people registered in the Information System for Research in Primary Care (SIDIAP). SIDIAP includes primary care records covering over 80% of the population of Catalonia, Spain.Participants with an incident diagnosis of OA, based on ICD-10-CM disease codes, were matched to up to 4 controls by age (within 2 years), gender and primary care practice. The first diagnosis date of OA used the index date, with matched controls using the same index date, to retrospectively review for comorbidities. Patients were required to have at least 3 years continuous registration prior to the index date. A total of 57 comorbidities were considered, based on prior knowledge and clinical consensus.Descriptive statistics were used to obtain the demographic information about cases and controls. Counts of any comorbidity were calculated, and univariable and multivariable logistic regression were used to calculate odds ratios (ORs) and 95% confidence intervals (CIs) of individual comorbidities adjusted for age, gender and socio-economic status.Results:In total, there were 455,494 OA cases and 1,481,298 matched controls. The cases and controls were similar with regards to age, gender and deprivation level.The incident diagnosis of any comorbidity at any time prior to index date was 77% (n= 350,913) in cases versus 61% (n= 909,497) in controls.The results from the multivariable analysis [Table 1] showed that OA patients had higher prevalence of many comorbidities up to 1 year prior to their diagnosis of OA compared to up to 10 years prior to diagnosis. They were most likely to be diagnosed with another musculoskeletal condition followed by neuro-psychiatric and metabolic and cardiovascular conditions. Conversely, patients with OA were less likely to be diagnosed with cancer up to 10 years prior to index date than matched controls.Table 1.Multivariable analysis at 1 year and 10 year prior to index dateCo-morbidityMultivariable analysis 1-year prior (OR, 95% CI)Multivariable analysis 10-year prior (OR, 95% CI)Musculoskeletal conditionsAnkylosing Spondylosis3.12 (2.41, 4.05)1.27 (1.12, 1.43)Fibromyalgia4.24 (3.96, 4.54)1.85 (1.80, 1.91)Rheumatoid Arthritis2.67 (2.40, 2.97)1.27 (1.20, 1.34)Back/ neck pain2.41 (2.38, 2.45)1.76 (1.75, 1.78)Neuro-psychiatricAnxiety1.69 (1.65, 1.73)1.23 (1.22, 1.24)Depression1.87 (1.81, 1.93)1.25 (1.24, 1.27)Irritable Bowel Syndrome1.90 (1.71, 2.11)1.28 (1.22, 1.34)Migraine1.81 (1.69, 1.94)1.23 (1.20, 1.27)CancerLeukaemia1.07 (0.88, 1.30)0.91 (0.82, 1.00)Lymphoma0.84 (0.68, 1.03)0.90 (0.82, 0.99)Solid malignancy0.95 (0.91, 0.99)0.95 (0.93, 0.97)Other medical conditionsStroke1.15 (1.10, 1.20)0.95 (0.93, 0.97)Hypertension1.70 (1.68, 1.74)1.26 (1.25, 1.28)Diabetes1.34 (1.30, 1.38)1.07 (1.06, 1.09)Obesity1.96 (1.92, 2.01)1.60 (1.58, 1.62)Conclusion:Patients with OA have multiple chronic conditions. Our results found that the diagnosis of these other co-morbidities (particularly musculoskeletal and neuro-psychiatric conditions) were more likely to occur in the 1-year prior to their diagnosis of OA, compared to in the 10-year prior, except for lymphoma and solid malignancy. These results help us to further understand the relationship and timing of the development of multiple co-morbidities in patients with OA.Disclosure of Interests:Arani Vivekanantham: None declared, Daniel Prieto-Alhambra: None declared, Danielle E Robinson Grant/research support from: Dr. Prieto-Alhambra reports grants and other from AMGEN, grants, non-financial support and other from UCB Biopharma, grants from Les Laboratoires Servier, outside the submitted work; and Janssen, on behalf of IMI-funded EHDEN and EMIF consortiums, and Synapse Management Partners have supported training programmes organised by DPA’s department and open for external participants.

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Antypkin, Yu H., and O. P. Volosovets. "Air pollution and health of children in Ukraine." UKRAINIAN JOURNAL OF PERINATOLOGY AND PEDIATRICS, no. 3(83) (October 2, 2020): 31–39. http://dx.doi.org/10.15574/pp.2020.83.31.

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Atmospheric air pollution is one of the main factors, which negatively affects the health of children in Ukraine. It can exacerbate chronic diseases and decrease the quality of life of children and their families. The aim to determine the correlation ranking between the incidence and prevalence of diseases among children in Ukraine in 2015 and the volume of pollutant emissions from stationary and mobile sources of pollution per person depending on the area of residence. Materials and methods. During the analysis, data from the Center for Medical Statistics of the Ministry of Health of Ukraine and the State Statistics Service of Ukraine for 2015 were used. Methods of system approach, epidemiological, correlation and cluster analysis are applied. Results. In our study we have discovered that the volume of pollutant emissions from stationary and mobile sources into the atmosphere per 1 person had a direct impact on the incidence of all diseases of children in Ukraine, especially children aged 0–6 years (p<0.01). The closest direct correlation was observed between pollutant emissions and prevalence of respiratory diseases among children, especially in children aged 0–6 years and 15–17 years and with the prevalence of bronchial asthma and diabetes in all age groups. The correlation between children morbidity level of tuberculosis, some infectious and parasitic diseases, congenital anomalies, circulatory and digestive diseases, diseases of the musculoskeletal system, ear and mammary gland and the volume of air toxic emissions haven't reached any important statistical significance. Correlation between the mortality rates of children under one year and the incidence of all diseases, including respiratory diseases, some infectious diseases, acute respiratory viral infections, pneumonia and influenza, cerebral palsy and air toxic emissions also haven't reached statistical significance. Conclusions. Morbidity and prevalence of all children's diseases was chained in different manner with the amount of pollutant air emissions. This fact indicates that the increase in morbidity is associated not only with socio-economic and medical and genetic factors, but also with environmental influence. This situation requires brings a necessity of establishment the issue of environmental safety of the population of Ukraine, especially children. No conflict of interest were declared by the authors. Key words: children, morbidity, prevalence, mortality, air pollution.

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Rausch Osthoff, Anne-Kathrin, Karin Niedermann, Jürgen Braun, Jo Adams, Nina Brodin, Hanne Dagfinrud, Tuncay Duruoz, et al. "2018 EULAR recommendations for physical activity in people with inflammatory arthritis and osteoarthritis." Annals of the Rheumatic Diseases 77, no. 9 (July 11, 2018): 1251–60. http://dx.doi.org/10.1136/annrheumdis-2018-213585.

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Regular physical activity (PA) is increasingly promoted for people with rheumatic and musculoskeletal diseases as well as the general population. We evaluated if the public health recommendations for PA are applicable for people with inflammatory arthritis (iA; Rheumatoid Arthritis and Spondyloarthritis) and osteoarthritis (hip/knee OA) in order to develop evidence-based recommendations for advice and guidance on PA in clinical practice. The EULAR standardised operating procedures for the development of recommendations were followed. A task force (TF) (including rheumatologists, other medical specialists and physicians, health professionals, patient-representatives, methodologists) from 16 countries met twice. In the first TF meeting, 13 research questions to support a systematic literature review (SLR) were identified and defined. In the second meeting, the SLR evidence was presented and discussed before the recommendations, research agenda and education agenda were formulated. The TF developed and agreed on four overarching principles and 10 recommendations for PA in people with iA and OA. The mean level of agreement between the TF members ranged between 9.8 and 8.8. Given the evidence for its effectiveness, feasibility and safety, PA is advocated as integral part of standard care throughout the course of these diseases. Finally, the TF agreed on related research and education agendas. Evidence and expert opinion inform these recommendations to provide guidance in the development, conduct and evaluation of PA-interventions and promotion in people with iA and OA. It is advised that these recommendations should be implemented considering individual needs and national health systems.

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Genç, A. C., F. Turkoglu Genc, A. B. Kara, L. Genc Kaya, Z. Ozturk, D. Karatas, Y. Gunduz, and E. Gönüllü. "AB1161 ARTIFICIAL INTELLIGENCE FOR RHEUMATOLOGY." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 1871–72. http://dx.doi.org/10.1136/annrheumdis-2020-eular.5318.

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Background:Magnetic resonance imaging (MRI) of sacroiliac (SI) joints is used to detect early sacroiliitis(1). There can be an interobserver disagreement in MRI findings of SI joints of spondyloarthropathy patients between a rheumatologist, a local radiologist, and an expert radiologist(2). Artificial Intelligence and deep learning methods to detect abnormalities have become popular in radiology and other medical fields in recent years(3). Search for “artificial intelligence” and “radiology” in Pubmed for the last five years returned around 1500 clinical studies yet no results were retrieved for “artificial intelligence” and “rheumatology”.Objectives:Artificial Intelligence (AI) can help to detect the pathological area like sacroiliitis or not and also allows us to characterize it as quantitatively rather than qualitatively in the SI-MRI.Methods:Between the years of 2015 and 2019, 8100 sacroiliac MRIs were taken at our center. The MRIs of 1150 patients who were reported as active or chronic sacroiliitis from these sacroiliac MRIs or whose MRIs were considered by the primary physician in favor of sacroiliitis was included in the study. 1441 MRI coronal STIR sequence of 1150 patients were tagged as ‘’active sacroiliitis’’ and trained to detect and localize active sacroiliitis and provide prediction performance. This model is available for various operating systems. (Image1)Results:Precision score, the percentage of sacroiliac images of the trained model, is 87.1%. Recall, the percentage of the total sacroiliac MRIs correctly classified by the model, is 82.1% and the mean average precision (mAP) of the model is 89%.Conclusion:There are gray areas in medicine like sacroiliitis. Inter-observer variability can be reduced by AI and deep learning methods. The efficiency and reliability of health services can be increased in this way.References:[1]Jans L, Egund N, Eshed I, Sudoł-Szopińska I, Jurik AG. Sacroiliitis in Axial Spondyloarthritis: Assessing Morphology and Activity. Semin Musculoskelet Radiol. 2018;22: 180–188.[2]B. Arnbak, T. S. Jensen, C. Manniche, A. Zejden, N. Egund, and A. G. Jurik, “Spondyloarthritis-related and degenerative MRI changes in the axial skeleton—an inter- and intra-observer agreement study,”BMC Musculoskeletal Disorders, vol. 14, article 274, 2013.[3]Rueda, Juan C et al. “Interobserver Agreement in Magnetic Resonance of the Sacroiliac Joints in Patients with Spondyloarthritis.”International journal of rheumatology(2017).Image1.Bilateral active sacroiliitis detected automatically by AI model (in right sacroiliac joint 75.6%> (50%), in left sacroiliac joint 65% (>50%))Disclosure of Interests:None declared

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Shaharir, S. S., R. Mustafar, M. S. Mohamed Said, and R. Abd Rahman. "AB0302 FACTORS ASSOCIATED WITH GESTATIONAL DIABETES MELLITUS (GDM) IN A MULTI-ETHNIC SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) COHORT." Annals of the Rheumatic Diseases 80, Suppl 1 (May 19, 2021): 1177.1–1177. http://dx.doi.org/10.1136/annrheumdis-2021-eular.1044.

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Background:The risks of insulin resistance and diabetes mellitus are elevated in systemic lupus erythematosus (SLE) patients. The use of glucocorticoid and anti-double stranded DNA antibodies positive are among the factors reported to be associated with the risk of gestational diabetes mellitus (GDM) in SLE patients. However, the relationship between GDM in Asian SLE patients is still obscure.Objectives:To determine the prevalence of gestational diabetes mellitus (GDM) in a multi-ethnic SLE cohort in Malaysia and the associated risk factors.Methods:This was a retrospective study of SLE pregnant women who have completed their antenatal care in Universiti Kebangsaan Malaysia Medical Centre (UKMMC) from 2004 until 2019. Screening and diagnosis of gestational diabetes mellitus (GDM) were as recommended in the guidelines by the Ministry of Health Malaysia. Information on SLE disease activity and treatment at 6 months before pregnancy and during pregnancy were determined from the medical records. Univariate and multi-variable logistic regression analyses were performed to determine the factors associated with GDM in the SLE patients.Results:A total of 89 patients with 202 pregnancies were included in the study. Malay was the predominant ethnic in this cohort (n=82, 67.2%), followed by Chinese (n=33,27.0%) and Indian (n=7, 5.7%). The most common system involvement of SLE was musculoskeletal (n=91, 74.6%), followed by haematological (n=78, 63.9%), lupus nephritis (54.9%, n=67) and mucocutaneous (n=66, 54.1%). The prevalence of GDM was 8.9% (n=18). More patients with GDM had positive anti-cardiolipin IgG antibody (aCL IgG) and lupus anticoagulant (LA) antibody as compared to the patients with no GDM, (55.6% vs 25.8%, p=0.01) and (50.0% vs 25.4%, p=0.05) respectively. On the other hand, the use of hydroxychloroquine (HCQ) in pregnancy was significantly lower in GDM patients (11.1%) as compared to no GDM group (39.1%), p=0.02. There was no significant difference in the ethnicity, SLE system involvement, disease activity status and immunosupressant use including steroid, azathioprine and cyclosporine A at 6 months before and during pregnancy between the GDM and non-GDM group. A forward logistic regression which include aCL IgG, LA and HCQ use in pregnancy, only the HCQ use remained significantly associated with lower risk of GDM in the model with OR= 0.12, 95% C.I = 0.02-0.94, p=0.04.Conclusion:Our study demonstrates the potential benefit of hydroxychloroquine in reducing the risk of gestational diabetes mellitus in SLE patients. The prevalence of antiphospholipid antibodies particularly aCL IgG and LA was found to be higher among patients with GDM. Further prospective studies are needed to confirm this association.References:[1]Dong Y, Dai Z, Wang Z, et al. Risk of gestational diabetes mellitus in systemic lupus erythematosus pregnancy: a systematic review and meta-analysis. BMC Pregnancy and Childbirth. 2019 May;19(1):179. DOI: 10.1186/s12884-019-2329-0.Disclosure of Interests:None declared

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Wang, De-feng. "Quantitative medical image analysis of musculoskeletal system." Journal of Orthopaedic Translation 2, no. 4 (October 2014): 191. http://dx.doi.org/10.1016/j.jot.2014.07.105.

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Monrad, Seetha U., and Daniel F. Battafarano. "Rheumatic Diseases: Beyond the Musculoskeletal System." Primary Care: Clinics in Office Practice 45, no. 2 (June 2018): xiii—xiv. http://dx.doi.org/10.1016/j.pop.2018.03.001.

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Perumal, Rajamani, Abel Livingston, Sumant Samuel, and Santhosh Kumar Govindaraju. "Melioidosis of the Musculoskeletal System." Medical Principles and Practice 29, no. 2 (September 2, 2019): 121–27. http://dx.doi.org/10.1159/000503021.

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Objective: Recent studies indicate that India is an endemic region for Burkholderia pseudomallei infection. We aimed to describe the clinical presentation of B. pseudomallei infection of the musculoskeletal system and summarise the various treatment modalities used in our clinical practice. Subjects and Methods: Patients with confirmed microbiological diagnosis of B. pseudomallei infection involving the musculoskeletal system treated from January 2007 to December 2016 with a minimum follow-up of 1 year were included. A retrospective review of medical records was carried out and patients’ demographic data, co-morbidities, clinical presentation, and details of medical and surgical treatment were documented. Results: Of 342 patients diagnosed with B. pseudomallei infection, 37 (9.2%) had musculoskeletal involvement; 26 patients (23 males) followed up for at least a year were included in the study. Four patients (15%) had multisystem involvement and 10 (37%) had multiple musculoskeletal foci of infection; 15 patients (58%) had osteomyelitis, 10 (38%) had septic arthritis with or without osteomyelitis, and 1 patient (4%) presented with only soft tissue abscess. All patients required surgical intervention in addition to medical management. Surgical treatment varied from soft tissue abscess drainage, arthrotomy for septic arthritis, decompression and curettage for osteomyelitis, and/or use of antibiotic (meropenem or ceftazidime)-loaded polymethylmethacrylate bone cement for local drug delivery. At final follow-up (average: 37 months, range: 12–120), all patients were disease free. Conclusion: We found the rate of musculoskeletal involvement in B. pseudomallei infection to be 9.2%. Appropriate surgical treatment in addition to medical management resulted in resolution of disease in all our patients.

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Takahashi, Toshiaki, Yuji Uchio, and Yoshiteru Muto. "Musculoskeletal System of Children：Concept and Purpose of Musculoskeletal Medical Check-up at School." Japanese Journal of Rehabilitation Medicine 55, no. 1 (2018): 4–8. http://dx.doi.org/10.2490/jjrmc.55.4.

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Gerganov, G., T. Georgiev, and T. Shivacheva. "AB0863 RADIOGRAPHY VERSUS ULTRASONOGRAPHY – WHICH IMAGING MODALITY TELLS US MORE ABOUT PAIN SEVERITY IN KNEE OSTEOARTHRITIS?" Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 1738.2–1739. http://dx.doi.org/10.1136/annrheumdis-2020-eular.2222.

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Background:Osteoarthritis (OA) is a leading cause of disability worldwide and pain is its cardinal symptom. Ranging from structural injuries to central sensitization, multifactorial mechanisms play an important role in pain perception in patients with knee OA (KOA) defining a discrepancy between pain and structural damage. Imaging modalities such as radiography and musculoskeletal ultrasonography may assess those structural findings and both are well embedded in routine clinical practice. However, their association with pain severity is poorly studied.Objectives:To evaluate the place of X-ray- and ultrasound-derived parameters of structural damage for pain perception in knee osteoarthritis patients.Methods:Sixty-four knees from 38 patients with KOA fulfilling the ACR criteria were assessed. The pain severity was evaluated in all knees by 100-millimeters (mm) visual analogue scale (VAS). Anteroposterior radiographs of the fully extended knees in an upright weight-bearing position were obtained and images were evaluated according to the Kellgren-Lawrence (KL) and OARSI atlas. All patients were investigated with a portable MyLab 25 Gold system equipped with an LA435 transducer (Esaote SpA, Genoa, Italy) by two experienced ultrasonographers. The presence or absence of synovial thickening, effusion in the suprapatellar bursa, and popliteal cyst were assessed. Medial meniscal extrusion and medial and lateral femoral cartilage thickness (medial and lateral) were measured in mm in full extension and flexion position, respectively. Femoral osteophytes were semi-quantitatively scored using a scale consisted of four grades (0-3).Results:The levels of pain differed significantly in the KL groups (p = .001) and in the groups classified according to the medial tibiofemoral compartment narrowing defined in line with the OARSI atlas (p = .005). The other knee osteoarthritis radiographic characteristics derived from the OARSI atlas did not correlate with the pain. From the assessed ultrasound parameters, medial meniscal extrusion and medial femoral cartilage showed a weak correlation with pain levels (r = .254, p = .043; r = -.265, p = 0.034, respectively). Nevertheless, in the multivariate analysis after adjusting for age and BMI, both variables did not reach significance for explaining the differences in VAS levels. No association between the presence of synovial effusion and popliteal cyst and pain severity was found.Conclusion:Plain radiography and ultrasonography reflect different structural changes in osteoarthritis that may play an important role in pain perception. Both imaging modalities can complement each other in order to improve the evaluation of the patient with KOA.Acknowledgments:NoneDisclosure of Interests:None declared

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Cooper, C., A. Vasilaki, A. McArdle, M. J. Jackson, I. Belluantono, I. Bruce, A. Rahman, et al. "Ageing and the Musculoskeletal System * I75. Musculoskeletal Ageing: From Epidemiology to Clinical Trials." Rheumatology 52, suppl 1 (April 1, 2013): i18—i25. http://dx.doi.org/10.1093/rheumatology/ket193.

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Karasik, David, and Douglas P. Kiel. "Genetics of the Musculoskeletal System: A Pleiotropic Approach." Journal of Bone and Mineral Research 23, no. 6 (February 11, 2008): 788–802. http://dx.doi.org/10.1359/jbmr.080218.

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Sunny, Sonie Sarah. "Fix That PHEX Loss." Journal of the Endocrine Society 5, Supplement_1 (May 1, 2021): A194—A195. http://dx.doi.org/10.1210/jendso/bvab048.395.

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Abstract Phosphorous has a critical role in multiple biological functions in the body, such as skeletal mineralization, and an imbalance of this can lead to several musculoskeletal disorders. An important regulator of renal phosphate excretion is fibroblast growth factor 23 (FGF23) which is produced by osteocytes and osteoblasts themselves thus providing a mechanism for the skeletal system to influence its own mineralization needs. PHEX is a gene that regulates FGF23 secretion therefore a loss-of-function mutation in this gene would result in elevated circulating FGF23 and phosphate depletion. This mutation has been identified as a cause for X-linked hypophosphatemia (XLH). Treatment of XLH has been limited and mainly involved phosphorous replacement in combination with 1,25(OH) vitamin D. Antiresorptive osteoporosis treatment can exacerbate the skeletal mineralization process. Here we present a patient with multiple fractures who was on denosumab treatment for presumed osteoporosis before being found to have PHEX mutation. The patient is a 64 year-old female with past medical history of bilateral hip replacement and recurrent femur fractures who was seen in clinic in 2014 due to recurrent fractures and diagnosis of osteoporosis since early 2000s. She had only tried alendronate up until that point. Due to the recurrent fractures she was switched to denosumab therapy while workup was underway for secondary causes. She was found to have low phosphorous levels and elevated FGF23 therefore genetic counseling was pursued and was recommended to check for PHEX mutation. The testing came back positive for loss-of-function mutation in PHEX, and by that point she had received 3 doses of denosumab therapy. She suffered another femoral fracture which was determined to be an atypical fracture, and therefore denosumab treatment was stopped and she was continued on phosphorous replacement as well as 1,25(OH) vitamin D replacement. Most recently her phosphorous levels have been controlled with therapy, and there is current discussion underway to try burosumab, an antibody to FGF23. During evaluation for osteoporosis, it is important to consider phosphorous roles in skeletal mineralization. If recurrent fractures are seen in a patient with low phosphorous levels, especially while they are on conventional antiresorptive osteoporosis medications, genetic testing for PHEX mutations should be considered as well as safely stopping antiresorptive medications.

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Hughes, S. P. F. "MRI of the musculoskeletal system." Neuromuscular Disorders 1, no. 6 (January 1991): 461. http://dx.doi.org/10.1016/0960-8966(91)90012-h.

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Chao, E. Y. S., J. D. Lynch, and M. J. Vanderploeg. "Simulation and Animation of Musculoskeletal Joint System." Journal of Biomechanical Engineering 115, no. 4B (November 1, 1993): 562–68. http://dx.doi.org/10.1115/1.2895541.

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This paper describes the development of computer-based software for three-dimensional geometric data base of the human musculoskeletal system. Using a computer graphics workstation, a user of the software will interactively display detailed information about the muscles, tendons, ligaments, bone, and joint anatomy. This software will enable a wide range of health care workers to viualize complex physiological data. In addition to geometric and visual realism, this software will include kinematic relationships which allow the calculation and display of the motion and forces of the joints, muscles, and tendons. This will permit a user to interactively move joints or tendons and display the resulting motion of the surrounding tissues, as well as internal reactive forces and joint pressure distribution. A two-dimensional version of this software is currently being used for knee and hip osteotomy preoperative planning, total joint replacement prosthesis design and dimensional selection, and osteochondral allograft sizing and reconstruction using radiographic data.

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Hamerman, D. "Aging and the musculoskeletal system." Annals of the Rheumatic Diseases 56, no. 10 (October 1, 1997): 578–85. http://dx.doi.org/10.1136/ard.56.10.578.

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Nemec, Stefan Franz, Ursula Nemec, Peter C. Brugger, Dieter Bettelheim, Siegfried Rotmensch, John M. Graham, David L. Rimoin, and Daniela Prayer. "MR imaging of the fetal musculoskeletal system." Prenatal Diagnosis 32, no. 3 (March 2012): 205–13. http://dx.doi.org/10.1002/pd.2914.

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Shayakhmetov, A. R., A. R. Shayakhmetova, R. F. Safin, and Yu O. Novikov. "Medical rehabilitation of swimmers with occupational injuries of the musculoskeletal system." Russian Osteopathic Journal, no. 3-4 (January 17, 2019): 128–34. http://dx.doi.org/10.32885/2220-0975-2018-3-4-128-134.

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This paper describes the most frequent cases of musculoskeletal system injuries in professional swimmers, based on the scientifi c journal articles analysis. The main causes of shoulder and knee joints injuries in athletes who use various swimming techniques are presented. It is shown that training the correct movement pattern allows to reliably prevent damage to the musculoskeletal system. The study conducted focuses on the further search for new methods for the rehabilitation of swimmers, including osteopathic correction, both independently and in combination with other types of exposure.

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Karasik, David, and Douglas P. Kiel. "Evidence for pleiotropic factors in genetics of the musculoskeletal system." Bone 46, no. 5 (May 2010): 1226–37. http://dx.doi.org/10.1016/j.bone.2010.01.382.

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Sundaram, Murali. "The CIBA Collection of Medical Illustrations.Vol 8,Musculoskeletal System(three parts)." Radiology 181, no. 2 (November 1991): 388. http://dx.doi.org/10.1148/radiology.181.2.388.

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Wang, W., Y. Zhou, and H. Song. "THU0516 FIFTEEN CASES OF 3 NLR FAMILY MEMBERS (NLRP3, NLRP12 AND NLRC4) RELATED INFLAMMASOMOPATHIES IN A SINGLE CENTER OF CHINA." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 496.1–497. http://dx.doi.org/10.1136/annrheumdis-2020-eular.3053.

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Background:There are four members in NLR family, NLRP3, NLRC4, NLRP1, and NLRP12, the mutations of which can lead to autoinflammatory diseases, while little reports describe those diseases in Chinese population.Objectives:To report several cases of NLR-related autoinflammatory diseases in our center and to compare the differences of the presentations of CAPS between Chinese and western patients.Methods:This study was undertaken at Peking Union Medical College Hospital (PUMCH) between 2012 and 2019. Demographic data, clinical presentations and genetic results were collected.Results:15 patients had been diagnosed as NLR-related autoinflammatory diseases in our center, including 11 CAPS, 1 FCAS4 and 3 NLRP12-AD patients.We found 10 NLRP3 mutations, 3 NLRP12 mutations and 1 NLRC4 mutation. There are 3 novel mutations: NLRP3 c.1311G>T, NLRP3 c.1711G>A, and NLRC4 c.514G>A.The major symptoms of those diseases are similar, such as recurrent episodes of fever associated with rash. And some may suffer from arthritis/arthralgia, uveitis, sensorineural deafness, symptoms of central neural systems (CNS).On the other hand, different inflammasomopathies have unique characteristics. Symptoms of FCAS1, the mildest CAPS disorder, including rash and fever with/without arthritis/arthralgia, usually develop in the first year of life. The onset age of MWS is later (8m to 5y), and those patients were more likely to develop arthritis/arthralgia, eye involvement, hearing loss and symptoms of CNS. NOMID was the most severe type, and was presented with chronic urticarial-like rash shortly after birth, as well as severe CNS manifestations and musculoskeletal involvement. One of our NOMID patients had clubbing fingers, which was not reported before. The onset age of NLRP12-AD ranges from 6m to 5y and the presentation is similar to MWS while the FCAS4 patient presented with rash and fever, like FCAS1.For laboratory examinations, all patients had raised inflammatory markers like ESR or CRP. Most of those patients had increased cytokines, including IL-1β, IL-6 as well as TNF-α. Leukocytosis and thrombocytosis were also observed in most patients, while anemia was mostly found in patients diagnosed as NOMID.We also compared the clinical manifestations of CAPS between Chinese and western patients. The frequency of fever in Chinese is much higher than that in western population, while less Chinese patients suffered from ocular manifestations. Besides, Chinese patients seem to exhibit higher frequencies of severe symptoms, either CNS symptoms, or musculoskeletal symptoms, albeit with insignificant difference.ChineseWesternp valuen26136Gender Ratio15:1169:670.518Fever25/26 (96%)108 (79%)0.002Rash24/26 (92%)132 (97%)0.397 Triggered by cold3/26 (12%)34 (25%)0.076Ocular manifestations10/26 (38%)97 (71%)0.001Hearing loss9/26 (35%)56 (41%)0.535Neurological symptoms15/26 (58%)55 (40%)0.105 Severe4/11 (36%)16 (12%)0.141Musculoskeletal manifestations18/26 (69%)117 (86%)0.093 Severe3/11 (27%)6 (4%)0.137Increased CRP/ESR25/26 (96%)NAConclusion:We reported a case series of NLR-related autoinflammatory disease and found some novel mutated alleles and clinical phenotypes, which expanded our knowledge to those diseases. By comparing clinical manifestations of CAPS patients in China and in western countries, it seems that the symptoms in different populations are not identical.References:[1]Levy R, Gerard L, Kuemmerle-Deschner J, Lachmann HJ, Kone-Paut I, Cantarini L et al. Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry. Ann Rheum Dis. 2015;74(11):2043-9.[2]Li C, Tan X, Zhang J, Li S, Mo W, Han T et al. Gene mutations and clinical phenotypes in 15 Chinese children with cryopyrin-associated periodic syndrome (CAPS). Sci China Life Sci. 2017;60(12):1436-44.Acknowledgments:We’d like to thank the patients as well as their parents for their participation.Disclosure of Interests:None declared

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Schiottz-Christensen, Berit. "Strong Analgesics and Pain in the Musculoskeletal System." Journal of Pharmacoepidemiology 4, no. 2 (March 25, 1996): 15–23. http://dx.doi.org/10.1300/j055v04n02_04.

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Bentley, George. "Surgery of the Musculoskeletal System, 2nd Edn." Neuromuscular Disorders 3, no. 1 (January 1993): 89. http://dx.doi.org/10.1016/0960-8966(93)90048-o.

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Wei, Miao, Natasha Lepore, Kelli Paulsen, and Jonathan D. Santoro. "Down syndrome with co-occurring Marfan syndrome." BMJ Case Reports 13, no. 9 (September 2020): e235988. http://dx.doi.org/10.1136/bcr-2020-235988.

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Down syndrome (DS) and Marfan syndrome (MFS) are two unique genetic disorders that share limited phenotypic overlap. There are very few reported cases in the existing literature on overlapping DS and MFS. Although these two disorders are phenotypically unique, features present in these cases are variable, resulting in mixed and dominant expressions of particular features. We present the first adolescent case of trisomy 21 associated DS and fibrillin-1 gene associated MFS in the literature who had a height at 90th percentile for an 11-year old boy and discuss the implications of this case in terms of future medical care when these two genetic syndromes are present in the same individual. Understanding of certain features of the ‘non-dominating’ syndrome is crucial for clinicians to recognise when DS co-occurs with MFS. Close monitoring of the cardiovascular, ophthalmologic and musculoskeletal systems is recommended if both syndromes are diagnosed given that both can be independently associated with disorders in these organ systems.

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Malik, N. "Medical Rehabilitation Role in the Treatment of Patients with Musculoskeletal System Pathology." Ukraïnsʹkij žurnal medicini, bìologìï ta sportu 2, no. 6 (October 20, 2017): 125–28. http://dx.doi.org/10.26693/jmbs02.06.125.

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Journal articles on the topic 'Musculoskeletal system Medical genetics'

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