A sedentary lifestyle, characterised by a lack of physical activity, negatively influences Body Mass Index (BMI). BMI may be related to the prevalence of flat feet. This study aims to observe the occurrence of flat feet in young children and determine its association with BMI. Additionally, it aims to analyse foot loading in the forefoot, midfoot and rearfoot. Dynamographic records of children (N = 142; age = 10.3 ± 0.21 years) were collected during walking, and foot-type evaluations were conducted using a force plate. A normal foot type was observed in 44% of children (BMI 16.0 ± 2.3 kg/m2). Flat feet were observed in 54% of children (BMI 18.4 ± 4.3 kg/m2). A high foot arch was observed in only 2% of children (BMI 16.0 ± 1.3 kg/m2). Children with flat feet had higher BMI values than those with normal feet. The contact time and maximal vertical force in the forefoot and rearfoot were similar in children with normal and flat feet. Significantly higher pressure values were observed in the midfoot zone of children with flat feet. Regression analysis results showed that in children with flat feet, there is a decrease in forefoot loading and an increase in midfoot loading with increasing BMI. This trend was not observed in children with normal feet. We recommend incorporating exercise interventions at this age to prevent pain and promote willingness to engage in physical activity. Higher BMI values indicate an increased risk for the prevalence of flat feet.

• MeSH
• chůze fyziologie   MeSH
• dítě MeSH
• index tělesné hmotnosti * MeSH
• lidé MeSH
• noha (od hlezna dolů) fyziologie   anatomie a histologie   MeSH
• plochá noha * epidemiologie   MeSH
• sedavý životní styl MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Fibrotic changes in pediatric clubfoot provide an opportunity to improve corrective therapy and prevent relapses with targeted drugs. This study defines the parameters of clubfoot fibrosis and presents a unique analysis of a simple pseudo-3D in vitro model for disease-specific high-throughput drug screening experiments. The model combines clubfoot-derived fibroblasts with a biomimetic cultivation environment induced by the water-soluble polymers Ficoll and Polyvinylpyrrolidone, utilizing the principle of macromolecular crowding. We achieved higher conversion of soluble collagen into insoluble collagen, accelerated formation of the extracellular matrix layer and upregulated fibrosis-related genes in the mixed Ficoll environment. To test the model, we evaluated the effect of a potential antifibrotic drug, minoxidil, emphasizing collagen content and cross-linking. While the model amplified overall collagen deposition, minoxidil effectively blocked the expression of lysyl hydroxylases, which are responsible for the increased occurrence of specific collagen cross-linking in various fibrotic tissues. This limited the formation of collagen cross-link in both the model and control environments. Our findings provide a tool for expanding preclinical research for clubfoot and similar fibroproliferative conditions.

• MeSH
• biomimetika metody   MeSH
• extracelulární matrix metabolismus   účinky léků   MeSH
• fibroblasty * metabolismus   účinky léků   MeSH
• fibróza * farmakoterapie   MeSH
• kolagen * metabolismus   chemie   MeSH
• kultivované buňky MeSH
• lidé MeSH
• pes equinovarus * metabolismus   farmakoterapie   patologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• kolagen * MeSH

BACKGROUND: Little evidence has been provided regarding physical performance and flat-footedness in school-age children. Although flat feet may decrease the level of motor performance, findings remain inconsistent. Therefore, the main purpose of the study was to determine whether children with flat feet had poorer physical task performance, compared to normal-footed children. METHODS: A total of 208 primary school boys were included in the study (107 normal-footed and 101 flatfooted boys). Flat footedness (< 42°) was determined using Clark's method. The children were tested by a set of unilateral and bilateral tests selected from the area of ​​explosive power and dynamic balance which included: (i) countermovement jump, (ii) standing broad jump, (iii) the triple crossover hop for distance test, (iv) maximal sprinting speed over 10, 20 and 40 m and (v) the Star Excursion Balance Test. Differences were adjusted for age, body mass index, peak height velocity and physical activity. RESULTS: Flat footed children exhibited significantly poorer results in bilateral standing broad jump (effect size [ES] = 0.34), unilateral standing broad jump for dominant (ES = 0.31) and non-dominant leg (ES = 0.20), the triple crossover hop for distance test for dominant (ES = 0.24) and non-dominant leg (ES = 0.23) and the Star Excursion Balance Test (ES = 0.23-0.43) and were slower in maximal sprinting speed test over 20 m (ES = 0.25) and 40 m (ES = 0.30). CONCLUSIONS: This study shows that children with flat feet performed poorer in some physical performance tasks, compared to the normal feet counterparts.

• Klíčová slova
• Balance, Children, Differences, Explosive power, Flat feet, Physical performance, Speed,
• MeSH
• cvičení MeSH
• dítě MeSH
• dolní končetina MeSH
• lidé MeSH
• noha (od hlezna dolů) MeSH
• plochá noha * MeSH
• školy MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

INTRODUCTION: Equinus contracture is a serious disability and attention should be paid to proper and effective treatment. Most attention is given to neurologically impaired patients, but the incidence of equinus contracture is much higher, for example, in post-traumatic patients. In addition to conventional physical therapy, robotic rehabilitation treatment is one of the promising procedures to precede severe contraction cases and the need for surgery. AREAS COVERED: This study aims to cover the description of different types of stationary and wearable ankle rehabilitation devices suitable for the treatment of equinus contracture and point to deficiency in research, clinical trials, and launch of the market. EXPERT OPINION: This review provides insight into ankle rehabilitation devices with a focus on equinus contracture. Due to the fact that robotic devices successfully restore the condition of patients, attention should not be paid only to those with neurological impairments. This paper points that future research should be effectively linked to clinical practice with the aim of covering a wider range of disabilities and make an effort to successfully introduce devices from development into the practice.

• Klíčová slova
• Achilles tendon, ankle, ankle foot orthoses, continuous passive motion, equinus contracture, ergometers, leg-press, rehabilitation devices,
• MeSH
• equinózní deformity nohy (od hlezna dolů) * etiologie   chirurgie   MeSH
• hlezenní kloub chirurgie   MeSH
• kotník chirurgie   MeSH
• lidé MeSH
• ortopedické výkony * MeSH
• výsledek terapie MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

Our aim was to study the expression of hypoxia-related proteins as a possible regulatory pathway in the contracted side tissue of relapsed clubfoot. We compared the expression of hypoxia-related proteins in the tissue of the contracted (medial) side of relapsed clubfoot, and in the tissue of the non-contracted (lateral) side of relapsed clubfoot. Tissue samples from ten patients were analyzed by immunohistochemistry and image analysis, Real-time PCR and Mass Spectrometry to evaluate the differences in protein composition and gene expression. We found a significant increase in the levels of smooth muscle actin, transforming growth factor-beta, hypoxia-inducible factor 1 alpha, lysyl oxidase, lysyl oxidase-like 2, tenascin C, matrix metalloproteinase-2, matrix metalloproteinase-9, fibronectin, collagen types III and VI, hemoglobin subunit alpha and hemoglobin subunit beta, and an overexpression of ACTA2, FN1, TGFB1, HIF1A and MMP2 genes in the contracted medial side tissue of clubfoot. In the affected tissue, we have identified an increase in the level of hypoxia-related proteins, together with an overexpression of corresponding genes. Our results suggest that the hypoxia-associated pathway is potentially a factor contributing to the etiology of clubfoot relapses, as it stimulates both angioproliferation and fibroproliferation, which are considered to be key factors in the progression and development of relapses.

• MeSH
• hemoglobin - podjednotky MeSH
• hypoxie komplikace   genetika   MeSH
• lidé MeSH
• matrixová metaloproteinasa 2 genetika   MeSH
• pes equinovarus * genetika   MeSH
• recidiva MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• hemoglobin - podjednotky MeSH
• matrixová metaloproteinasa 2 MeSH

Flat foot pain is a common complaint that requires therapeutic intervention. Currently, myofascial release techniques are often used in the therapy of musculoskeletal disorders. A group of 60 people suffering from flat feet with associated pain. Patients were assigned to four groups (15 people each): MF-myofascial release, E-the exercise program, MFE-myofascial release and the exercise program, C-no intervention. The rehabilitation program lasted 4 weeks. The NRS scale was used to examine pain intensity and FreeMed ground reaction force platform was used to examine selected static and dynamic foot indicators. Statistically significant pain reduction was obtained in all research. A static test of foot load distribution produced statistically significant changes only for selected indicators. In the dynamic test, statistically significant changes were observed for selected indicators, only in the groups subjected to therapeutic intervention. Most such changes were observed in the MF group. In the dynamic test which assessed the support phase of the foot, statistically significant changes were observed only for selected subphases. Most such changes were observed in the MFE group. Both exercise and exercise combined with myofascial release techniques, and especially myofascial release techniques alone, significantly reduce pain in a flat foot. This study shows a limited influence of both exercises and myofascial release techniques on selected static and dynamic indicators of a flat foot.

• MeSH
• bolest diagnóza   patofyziologie   prevence a kontrola   psychologie   MeSH
• cvičení fyziologie   MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• měření bolesti psychologie   MeSH
• plochá noha diagnóza   patologie   terapie   MeSH
• technika myofasciálního uvolnění metody   MeSH
• terapie cvičením metody   MeSH
• výsledek terapie MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• randomizované kontrolované studie MeSH

Congenital clubfoot is a complex musculoskeletal deformity, in which a stiff, contracted tissue forms in the medial part of the foot. Fibrotic changes are associated with increased collagen deposition and lysyl oxidase (LOX)-mediated crosslinking, which impair collagen degradation and increase the tissue stiffness. First, we studied collagen deposition, as well as the expression of collagen and the amount of pyridinoline and deoxypyridinoline crosslinks in the tissue of relapsed clubfoot by immunohistochemistry, real-time PCR, and enzyme-linked immunosorbent assay (ELISA). We then isolated fibroblast-like cells from the contracted tissue to study the potential inhibition of these processes in vitro. We assessed the effects of a LOX inhibitor, β-aminopropionitrile (BAPN), on the cells by a hydroxyproline assay, ELISA, and Second Harmonic Generation imaging. We also evaluated the cell-mediated contraction of extracellular matrix in 3D cell-populated collagen gels. For the first time, we have confirmed significantly increased crosslinking and excessive collagen type I deposition in the clubfoot-contracted tissue. We successfully reduced these processes in vitro in a dose-dependent manner with 10-40 µg/mL of BAPN, and we observed an increasing trend in the inhibition of the cell-mediated contraction of collagen gels. The in vitro inhibitory effects indicate that BAPN has good potential for the treatment of relapsed and resistant clubfeet.

• Klíčová slova
• beta-aminopropionitrile (BAPN), collagen, congenital idiopathic Talipes equinovarus, contraction, crosslinking, fibrosis, relapsed clubfoot,
• MeSH
• aminopropionitril farmakologie   MeSH
• fibroblasty účinky léků   MeSH
• kolagen chemie   MeSH
• lidé MeSH
• lysyloxidasa antagonisté a inhibitory   MeSH
• pes equinovarus farmakoterapie   metabolismus   patologie   MeSH
• předškolní dítě MeSH
• reagencia zkříženě vázaná farmakologie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• aminopropionitril MeSH
• kolagen MeSH
• LOX protein, human MeSH Prohlížeč
• lysyloxidasa MeSH
• reagencia zkříženě vázaná MeSH

AIM: Clubfoot is a congenital deformity affecting the musculoskeletal system, resulting in contracted and stiff tissue in the medial part of the foot. Minoxidil (MXD) has an inhibitory effect on lysyl hydroxylase, which influences the quality of extracellular matrix crosslinking, and could therefore be used to reduce the stiffness and to improve the flexibility of the tissue. We assessed the in vitro antifibrotic effects of minoxidil on clubfoot-derived cells. METHODS: Cell viability and proliferation were quantified by xCELLigence, MTS, and LIVE/DEAD assays. The amount of collagen I deposited into the extracellular matrix was quantified using immunofluorescence with subsequent image segmentation analysis, hydroxyproline assay, and Second Harmonic Generation imaging. Extracellular matrix contraction was studied in a 3D model of cell-populated collagen gel lattices. RESULTS: MXD concentrations of 0.25, 0.5, and 0.75 mM inhibited the cell proliferation in a concentration-dependent manner without causing a cytotoxic effect. Exposure to ≥0.5 mM MXD resulted in a decrease in collagen type I accumulation after 8 and 21 days in culture. Changes in collagen fiber assembly were observed by immunofluorescence microscopy and nonlinear optical microscopy (second harmonic generation). MXD also inhibited the contraction of cell-populated collagen lattices (0.5 mM by 22%; 0.75 mM by 28%). CONCLUSIONS: Minoxidil exerts an in vitro inhibitory effect on the cell proliferation, collagen accumulation, and extracellular matrix contraction processes that are associated with clubfoot fibrosis. This study provides important preliminary results demonstrating the potential relevance of MXD for adjuvant pharmacological therapy in standard treatment of relapsed clubfoot.

• Klíčová slova
• CTEV, Relapsed clubfoot, collagen type I, congenital idiopathic talipes equinovarus, fibrosis, minoxidil,
• MeSH
• kolagen typu I MeSH
• kolagen MeSH
• konzervativní terapie MeSH
• lidé MeSH
• minoxidil farmakologie   MeSH
• pes equinovarus * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• kolagen typu I MeSH
• kolagen MeSH
• minoxidil MeSH

PURPOSE: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides-Baraitser syndrome (NCBRS), a condition with intellectual disability and multiple congenital anomalies. Other disorders due to SMARCA2 are unknown. METHODS: By next-generation sequencing, we identified candidate variants in SMARCA2 in 20 individuals from 18 families with a syndromic neurodevelopmental disorder not consistent with NCBRS. To stratify variant interpretation, we functionally analyzed SMARCA2 variants in yeasts and performed transcriptomic and genome methylation analyses on blood leukocytes. RESULTS: Of 20 individuals, 14 showed a recognizable phenotype with recurrent features including epicanthal folds, blepharophimosis, and downturned nasal tip along with variable degree of intellectual disability (or blepharophimosis intellectual disability syndrome [BIS]). In contrast to most NCBRS variants, all SMARCA2 variants associated with BIS are localized outside the helicase domains. Yeast phenotype assays differentiated NCBRS from non-NCBRS SMARCA2 variants. Transcriptomic and DNA methylation signatures differentiated NCBRS from BIS and those with nonspecific phenotype. In the remaining six individuals with nonspecific dysmorphic features, clinical and molecular data did not permit variant reclassification. CONCLUSION: We identified a novel recognizable syndrome named BIS associated with clustered de novo SMARCA2 variants outside the helicase domains, phenotypically and molecularly distinct from NCBRS.

• Klíčová slova
• BIS, Nicolaides–Baraitser syndrome, SMARCA2, intellectual disability, neurodevelopmental disorder,
• MeSH
• blefarofimóza * MeSH
• faciální stigmatizace MeSH
• fenotyp MeSH
• hypotrichóza * MeSH
• lidé MeSH
• mentální retardace * genetika   MeSH
• transkripční faktory genetika   MeSH
• vrozené deformity nohy (od hlezna dolů) MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• SMARCA2 protein, human MeSH Prohlížeč
• transkripční faktory MeSH

BACKGROUND: Clubfoot deformity (pes equinovarus) is one of the most common birth defects, and its etiology is still unknown. Initial clubfoot treatment is based on the Ponseti method throughout most of the world. Despite the effectiveness of this therapy, clubfoot may relapse. Recent studies confirm the theory of active fibrotic remodeling processes in the extracellular matrix of the affected tissue. The aim of this study was to clarify whether relapses in clubfoot therapy are associated with altered angiogenesis and to suggest possible regulatory pathways of this pathologic process. METHODS: We compared microvessel density, arteriole density, and concentration of angioproliferative-related proteins found between tissues in the contracted, that is, the medial side (M-side), and noncontracted, that is, the lateral side (L-side) of the relapsed clubfeet. Tissue samples from 10 patients were analyzed. Histopathologic analysis consisted of immunohistochemistry and image analysis. Real-time polymerase chain reaction was used to study mRNA expression. RESULTS: An increase in microvessel and arteriole density was noted in contracted, relapsed clubfoot tissue. This was accompanied by a significant increase in the levels of the vascular endothelial growth factor, vascular endothelial growth factor receptor 2, β catenin and active β catenin. Vascular endothelial growth factor, vascular endothelial growth factor receptor 2, and CD31 overexpression was also seen with mRNA analysis. CONCLUSIONS: Increased microvessel and arteriole density in the contracted side of the relapsed clubfoot was noted. These processes are mediated by specific proangiogenic proteins that are overexpressed in the contracted tissue. These findings contribute to the etiology and the development of relapses in the treatment of clubfoot. LEVEL OF EVIDENCE: Level II-analytical and prospective.

• MeSH
• arterioly * MeSH
• beta-katenin metabolismus   MeSH
• lidé MeSH
• patologická angiogeneze * MeSH
• pes equinovarus etiologie   metabolismus   terapie   MeSH
• předškolní dítě MeSH
• prospektivní studie MeSH
• receptor 2 pro vaskulární endoteliální růstový faktor metabolismus   MeSH
• recidiva MeSH
• sádrové obvazy MeSH
• vaskulární endoteliální růstový faktor A metabolismus   MeSH
• výsledek terapie MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• beta-katenin MeSH
• CTNNB1 protein, human MeSH Prohlížeč
• KDR protein, human MeSH Prohlížeč
• receptor 2 pro vaskulární endoteliální růstový faktor MeSH
• vaskulární endoteliální růstový faktor A MeSH
• VEGFA protein, human MeSH Prohlížeč