PSI - Issue 40

A.V. Akimova et al. / Procedia Structural Integrity 40 (2022) 12–16 A. V. Akimova at al. / StructuralIntegrity Procedia 00 (2022) 000 – 000

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1. Background UCTD is a genetically determined condition characterized by connective tissue fibers and intercellular matrix defects. Some UCTD external signs are found in up to 94% young persons (Smirnova Yu. Yu., 2000). According to Nechaeva G. I., UCTD is diagnosed in every 5 th young adult, while Golovsky B. V. et al. report UCTD frequency as 8.5% in a 400 person sample. Bone and joints conditions, such as hypermobility, joint pain and low traumatic fractures, are the most frequent UCTD manifestations. Low bone quality may also be associated with chronic magnesium deficiency. Chronic magnesium deficiency has been reported to associate with a muscle tone and strength decrease and asthenia. UCTD and low bone mineral density (BMD) association has been studied mainly in the pediatric population and the results were inconsistent due to different age groups and varying approaches to UCTD diagnosis. Thus, in 66 children aged 3 to 17, UCTD was associated with low lumbar spine (in 54.5%) and the entire skeleton (in 42.4%) BMD. In another sampling of children aged 9 to 17, low BMD was detected in 60% and correlated with the number of UCTD signs. In 14 to 20-year-olds, low BMD was detected in 28.7% UCTD-positive persons, and in 23.4% those without UCTD. The aim of the study was to determine the association of the UCTD signs number and low traumatic fractures not related to age, osteoporosis or medication intake. 2. Methods A cross-sectional study of patients undergoing scheduled medical examination enrolled 464 persons. Inclusion criteria were: signed informed consent. Exclusion criteria were refusal to sign the informed consent form, acute or chronic conditions (including osteoporosis, Marfan syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, etc.) likely to affect BMD or quality of bone tissue, use of glucocorticoids, immunosuppressive drugs. 6 persons met the exclusion criteria, 458 were included in the analysis. Physical examination included anthropometry and body mass index (BMI) calculation, measurement of arms span and its ratio to height, hands and legs length. Russian National Recommendations (RNMOT, 2016) were used to identify UCTD (2016) [3]. A total of 48 external signs of UCTD were evaluated: muscle hypotrophy, dolichostenomelia, arachnodactyly (Steinberg thumb sign and Walker-Murdoch wrist sign), high arched palate, dental crowding, retrognathia, knee and elbow joints hyperextensibility, reduced extension of the elbow joints, genu varum, genu valgus, club foot, flat foot, flat valgus foot, chest deformities, scoliosis, winged scapula, straight back, hyperkyphosis, hyperlordosis, rectus abdominis muscles diastasis, sclera blue, hypo- or hypertelorism, hyperextensible skin, striae, thin skin. Minor developmental anomalies (MDA) were also registered: hypo/hypertelorism, pr otruding ears, “crumpled” ears, adherent earlobe, malocclusions, diastema, clinodactyly of 2 or 5 th fingers, wide gap between the first and second toes, syndactyly of toes 2 and 3, short 1 toe, telangiectasia, multiple moles, “Mongolian” spot, areas of dep igmentation. Standard ultrasound and endoscopy procedures were used to verify inner organs MDA: valve prolapses, abnormally located chords, aorta and/or pulmonary trunk dilation; peripheral veins varicosity, varicocele, brachiocephalic arteries stenoses and malformations, apical lung bullae, tracheal and large bronchial dyskinesia, nephroptosis, deformation of the calyx-pelvic system, gastroesophageal and duodenogastric reflux, low esophageal sphincter insufficiency, gallbladder deformities, dolichosigma, hernia, myopia, strabismus, nasal septum curvature, spondylolisthesis, vertebral hernias. The Ghent, Villefranche and Brighton criteria were assessed. No cases of compliance with Marfan, Ehlers-Danlos, osteogenesis imperfecta, Loeys-Dietz syndrome criteria were identified. Detection of 6 or more UCTD signs cluster in a person were estimated as confirmed UCTD. Fractures history, quantity and localization were registered. Causative trauma injuries levels varied extensively from high energy trauma during games, fights, sports or car accidents to low trauma events (falling from a standing height or low height of less than 1 m). In some cases of childhood occurred fractures the level of trauma could not be assessed.