Introduction. Joint hypermobility is a common polyetiological condition that can be accompanied by pain in the joints and lead to the early onset of osteoarthritis. The study of the comorbidity of JH and somatic pathology, in connective tissue dysplasia, is fragmentary and relevant for optimizing the classification and criteria for early diagnosis of this condition. Aim. Analysis of the frequency of phenotypic signs of uCTD in individuals with JH.Materials and methods. A cross-sectional study of 35 men (21.77 ± 0.60 years) and 226 women (21.42 ± 0.18 years) was carried out. 2 groups were formed – with the presence of HMS (n = 156) and the control group (n = 105). JH was determined according to the Beighton scale, phenotypic signs of uCTD – according to the modified table by T. Kadurina.Results. Statistically significant differences were found in the frequency of occurrence of phenotypic signs of CTD in individuals with hypermobility – a decrease in BMI < 18 kg/m2 (p = 0.0001), skin hyperelasticity (p = 0.0001), ptosis of internal organs (p = 0.038), dolichostenomyelia (p = 0.010), hyperkyphosis/hyperlordosis (p = 0.003), joint crunch (p = 0.009), GERD (p = 0.021) and arterial hypotension (p = 0.0001). Mild myopia was more common in the control group (p = 0.020), and severe myopia was more common in the JH group (p = 0.003). Keloid scars were more common in the group with severe JH (p = 0.021).Conclusions. In patients with joint hypermobility, phenotypic manifestations of connective tissue dysplasia were revealed, most often involving the musculoskeletal system (dolichostenomelia, crunching in the joints, curvature of the spine) and skin (hyperelasticity, keloid scars).
Joint hypermobility (JH) is a common phenotype that can be both an independent clinical syndrome and a manifestation of connective tissue diseases. The pathogenesis of JH is not well understood. JH may be a predisposing factor in the development of musculoskeletal system pathology, so it is necessary to identify its molecular markers to prevent the formation of associated disorders.Objective: to search for associations of five polymorphic variants of the ADAMTS5 gene with JH and connective tissue dysplasia (CTD).Material and methods. A one-stage screening study of young people (n=181, mean age 21.86±0.22 years) was performed. We searched for associations of polymorphic variants of the rs226794, rs9978597, rs2830585, rs229077, rs229069 loci of the ADAMTS5 gene with JH, undifferentiated CTD, and their combinations. JH was determined by the Beighton scale, CTD – by a quantitative method. The study of polymorphic variants was carried out using real-time polymerase chain reaction. To compare qualitative features, Fisher's exact test with Yates’s correction for 2×2 contingency tables was used. The strength of associations was assessed using the odds ratio (OR), differences were considered significant at p<0.05, the correction for multiple comparisons was performed using the Benjamini–Hochberg method (false discovery rate, FDR).Results and discussion. JH was detected in 128 (70.7%), signs of CTD – in 129 (71.3%) patients, including 115 (63.5%) patients in combination with JH. We found associations of the T allele and the TT genotype of the rs9978597 locus with the presence of JH (OR 5.00 and 7.81, respectively), CTD (OR 3.13 and 3.96), or their combinations (OR 6.33 and 10.23). An association of the GG genotype of the rs226794 locus with isolated JH was also found (OR 3.87).Conclusion. The GG genotype of the rs226794 locus of the ADAMTS5 gene is a marker of isolated JH, the T allele of the rs9978597 locus is a marker of both isolated JH and CTD, and their combination.
Введение. Остеопороз является многофакторным метаболическим заболеванием, при котором возрастает риск перелома костей из-за снижения уровня минеральной плотности костной ткани. Согласно оценкам Международного фонда остеопороза, остеопорозу подвержены около 200 млн человек. Поэтому актуальной представляется разработка клинико-диагностических методов, которые позволили бы эффективно предсказывать риски переломов в различных отделах скелета и, основываясь на данных популяционных исследований, с высокой точностью прогнозировать течение заболевания. Цель: исследование уровней индекса массы тела и минеральной плотности костной ткани у мужчин и женщин с переломами различной локализации. Материал и методы. Было обследовано 828 женщин постменопаузального возраста (61,94 ± 7,98 года) и 496 мужчин старше 50 лет (62,03 ± 10,83 года). Пациентам было проведено измерение минеральной плотности костной ткани (МПКТ) методом двухфазной абсорбционной рентгеновской денситометрии (DEXA) с использованием аппарата QDR 4500A (Hologic, США) в стандартных локализациях и измерен индекс массы тела (ИМТ). Результаты и обсуждение. Были выявлены ассоциации ИМТ с переломами периферических костей, МПКТ поясничных позвонков с переломами периферических костей и позвоночника, МПКТ шейки бедра с переломами данной локализации у женщин. У мужчин выявлены ассоциации ИМТ, МПКТ поясничного отдела позвоночника с переломами всех локализаций и МПКТ шейки бедренной кости с переломами позвоночника и сочетанными переломами. Заключение. У женщин снижение МПКТ шейки бедренной кости повышает риск переломов в целом, МПКТ поясничного отдела позвоночника -только переломов данной локализации. У мужчин снижение МПКТ как поясничного отдела позвоночника, так и шейки бедренной кости повышает риск переломов различной локализации. Снижение ИМТ повышает риск переломов в целом как у мужчин, так и у женщин.
The objective of our study was the analysis of using immunosuppressive therapy in patients with COVID-19 at the Clinic of the Bashkir State Medical University. Material and methods — We conducted the analysis of clinical and laboratory parameters of inflammatory response in 322 patients with COVID-19 who received tocilizumab, baricitinib, high doses of dexamethasone, or standard therapy. Results — There was an increase in the levels of leukocytes (p=0.04) and neutrophils (p=0.002) in patients receiving tocilizumab, compared with standard therapy, on days 5 and 10 of a hospital stay. The level of C-reactive protein was initially elevated in all patients, but by day 5 of hospitalization it was significantly higher in patients treated with tocilizumab and baricitinib (p=0.0019 and p=0.013, respectively), compared with high-dose glucocorticoid therapy and standard treatment, against which the normalization of parameter values was noted. The neutrophil-to-lymphocyte ratio increased in the group of patients receiving tocilizumab and high-dose glucocorticoid therapy on day 5 of hospitalization (p=0.017 and p=0.004). When assessing the dynamics of pneumonia, based on computed tomography data, the median of changes exhibited an increase in the volume of lung damage in all groups, compared with the baseline level. Conclusion — Tocilizumab in the form of monotherapy effectively reduced inflammation, while the efficacy of baricitinib for stopping the cytokine storm in monotherapy was insufficient. Based on CT data, both target drugs did not stop the progression of lung lesions on day 5.
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