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The article presents a statistical analysis of data collected from the observation of the production of austempered ductile iron. The impact assessment of the chemical composition, i.e. high contents of Cu and Ni on the properties of ductile iron isothermal tempered is critical to find the right chemical composition of austempered ductile iron. Based on the analyses range of the percentage of Cu and Ni which were selected in the cast iron to obtain material with high strength properties.

The paper undertakes an important topic of evaluation of effectiveness of SCADA (Supervisory Control and Data Acquisition) systems, used for monitoring and control of selected processing parameters of classic green sands used in foundry. Main focus was put on process studies of properties of so-called 1st generation molding sands in the respect of their preparation process. Possible methods of control of this processing are presented, with consideration of application of fresh raw materials, return sand (regenerate) and water. The studies conducted in one of European foundries were aimed at pointing out how much application of new, automated plant of sand processing incorporating the SCADA systems allows stabilizing results of measurement of selected sand parameters after its mixing. The studies concerned two comparative periods of time, before an implementation of the automated devices for green sands processing (ASMS - Automatic Sand Measurement System and MCM – Main Control Module) and after the implementation. Results of measurement of selected sand properties after implementation of the ASMS were also evaluated and compared with testing studies conducted periodically in laboratory.

Simulation software dedicated for design of casting processes is usually tested and calibrated by comparisons of shrinkage defects distribution predicted by the modelling with that observed in real castings produced in a given foundry. However, a large amount of expertise obtained from different foundries, including especially made experiments, is available from literature, in the form of recommendations for design of the rigging systems. This kind of information can be also used for assessment of the simulation predictions. In the present work two parameters used in the design of feeding systems are considered: feeding ranges in horizontal and vertical plates as well as efficiency (yield) of feeders of various shapes. The simulation tests were conducted using especially designed steel and aluminium castings with risers and a commercial FDM based software. It was found that the simulations cannot predict appearance of shrinkage porosity in horizontal and vertical plates of even cross-sections which would mean, that the feeding ranges are practically unlimited. The yield of all types of feeders obtained from the simulations appeared to be much higher than that reported in the literature. It can be concluded that the feeding flow modelling included in the tested software does not reflect phenomena responsible for the feeding processes in real castings properly. Further tests, with different types of software and more fundamental studies on the feeding process modelling would be desirable.

Austenitization is the first step of heat treatment preceding the isothermal quenching of ductile iron in austempered ductile iron (ADI) manufacturing. Usually, the starting material for the ADI production is ductile iron with more convenient pearlitic matrix. In this paper we present the results of research concerning the austenitizing of ductile iron with ferritic matrix, where all carbon dissolved in austenite must come from graphite nodules. The scope of research includedcarrying out the process of austenitization at 900° Cusing a variable times ranging from 5 to 240minutes,and then observations of the microstructure of the samples after different austenitizing times. These were supplemented with micro-hardness testing. The research showed that the process of saturating austenite with carbon is limited by the rate of dissolution of carbon from nodular graphite precipitates

The results presented in this paper are a continuation of the previously published studies. The results of hest treatment of ductile iron with content 3,66%Si and 3,80% Si were produced. The experimental castings were subjected to austempering process for time 30, 60 and 90 minutes at temperature 300°C. The mechanical properties of heat treated specimens were studied using tensile testing and hardness measurement, while microstructures were evaluated with conventional metallographic observations. It was again stated that austempering of high silicone ferritic matrix ductile iron allowed producing ADI-type cast iron with mechanical properties comparable with standard ADI.

Bovine mastitis remains a major problem in the global dairy cattle industry. The acute invasion of udder by pathogens induces innate immune response as the first defence mechanism in subclinical and clinical mastitis. The aim of the study was to determine inflammatory and regulatory cytokines IL-2, IL-4, TGF-β1, IL-17A, beta-defensin 3 and IL-10 and their potential changes in milk of dairy cows with subclinical and clinical mastitis, and to compare the findings with healthy animals. Milk samples from 15 holstein Friesian breed cows were used in the study. Cows were divided into three groups based on their health status (5 healthy, 5 subclinical and 5 clinical animals). All samples were tested using immunohistochemistry to evaluate IL-2, IL-4, IL-10, IL17A, TGF-β1 and β-Def 3 proteins. Expression of all proteins was detected in all milk samples. High expression of IL-2, IL-4, IL17A, TGF-β1 was detected in healthy cows' milk and in milk of cows with subclinical and clinical mastitis. However, expression of IL-10 and β-Def 3 in milk samples of healthy cows was significantly higher compared to the milk of cows with subclinical and clinical mastitis (p <.001). IL-10 and β-Def 3 can be considered as informative biomarkers in diagnosis of subclinical and clinical mastitis. [ABSTRACT FROM AUTHOR]

Immunoglobulin Mu‐binding protein 2 (IGHMBP2) pathogenic variants result in the fatal, neurodegenerative disease spinal muscular atrophy with respiratory distress type 1 (SMARD1) and the milder, Charcot–Marie‐Tooth (CMT) type 2S (CMT2S) neuropathy. More than 20 years after the link between IGHMBP2 and SMARD1 was revealed, and 10 years after the discovery of the association between IGHMBP2 and CMT2S, the pathogenic mechanism of these diseases is still not well defined. The discovery that IGHMBP2 functions as an RNA/DNA helicase was an important step, but it did not reveal the pathogenic mechanism. Helicases are enzymes that use ATP hydrolysis to catalyse the separation of nucleic acid strands. They are involved in numerous cellular processes, including DNA repair and transcription; RNA splicing, transport, editing and degradation; ribosome biogenesis; translation; telomere maintenance; and homologous recombination. IGHMBP2 appears to be a multifunctional factor involved in several cellular processes that regulate gene expression. It is difficult to determine which processes, when dysregulated, lead to pathology. Here, we summarise our current knowledge of the clinical presentation of IGHMBP2‐related diseases. We also overview the available models, including yeast, mice and cells, which are used to study the function of IGHMBP2 and the pathogenesis of the related diseases. Further, we discuss the structure of the IGHMBP2 protein and its postulated roles in cellular functioning. Finally, we present potential anomalies that may result in the neurodegeneration observed in IGHMBP2‐related disease and highlight the most prominent ones. [ABSTRACT FROM AUTHOR]

The aim of this study was to investigate the impact of different bedding materials on both production performance and foot quality, assessed through the incidence, severity, and microbiological quality of foot pad dermatitis (FPD). A total of 2400 Ross 308 chickens were raised over 42 days, distributed across eight bedding material types (eight groups × four treatments × 75 chickens each). These pellets either lacked medicinal plant components or included 30% of plant parts, such as oregano (Origanum vulgare), summer savory (Satureja hortensis), lemon balm (Melissa officinalis), salvia (Salvia officinalis), and thyme (Thymus vulgaris). Production performance controls included body weight (BW) at 42 days of age, feed conversion ratio (FCR), and mortality. The severity of FPD was evaluated at 28, 35, and 42 days using a scale ranging from S0 to S3. A microbiological analysis of the feet was based on the FPD score. Broilers raised on straw chaff (bedding: 24% oregano and 6% summer savory, 18% oregano and 12% summer savory, and 24% oregano and 6% thyme) exhibited the highest BW. Straw chaff-reared broilers demonstrated the lowest FCR. The highest mortality occurred on 18% oregano and 12% summer savory bedding, which may have been caused by the high share of summer savory, which could be toxic. At 35 and 42 days, broilers in the 24% oregano and 6% summer savory group exhibited the best foot quality, while those on straw chaff and 18% oregano and 12% summer savory had the worst one. The influence of medicinal plants in the pellets was particularly notable in reducing Listeria sp. This reduction was likely due to the presence of carvacrol from summer savory, quercetin from lemon balm, and thymol from thyme. Based on our research, the best bedding materials for foot quality are 24% oregano with 6% summer savory and 18% summer savory with 12% salvia, while 18% summer savory with 12% lemon balm and 18% summer savory with 12% thymus were the most effective in limiting Listeria sp. [ABSTRACT FROM AUTHOR]

INTRODUCTION. A menstrual pain often contributes to the decline of a woman's life quality. It remains a serious problem in an everyday life, but also in a proffessional life of a sportwoman as it significantly affects the achieved results. Pharmacology is the most popular way to cease the menstrual pain. However, thanks to the development of physiotherapy, many methods of the menstrual pain management have been emerged and they are still evolving. It is in this regard especially noticebale that Kinesiology Taping should be paid rapt attention. AIM OF THE RESEARCH. The aim of the research is to assess Kinesiology Taping application in the reduction of menstrual pains among female basketball players. MATERIALS AND METHODOLOGY. The reaserch was conducted in a group of 35 women aged 20-36 with regular menstrual cycles and who train basketball professionaly. This group was for itself the study group and the control group. The assessment was conducted twice: 1) the first menstrual cycle after the research inclusion (no medical intervention); 2) the second menstrual cycle with the application of Kinesiology Taping. 3 day prior menstrual bleeding Kinesiology Taping was used among the participants of the reasearch. The 'I'-shaped cutting technique was used. The tapes tension was 50% and they were on women's bodies for 7 days. RESULTS. The average pain intensity in the NRS scale before the therapy was 5,525286 (median 6,00). Whereas after the therapy with the kinesiology taping application the decline of pain intensity was noted at the level of 3,428571 (median 3,00). The statistical analysis showed that the use of Kinesiology Taping had statistically significant – p

INTRODUCTION. The phenomenon of the pain ailments of spine is very complex and increasingly common. The key aspect of the treatment is the appropriate choice of the therapy, which may be dependent on many factors i.e.: the cause of the ailments, the phase of the disease, the clinical sypmtoms, the general health condition of the patient, the functional disorders and the patient's abbilities. AIM OF THE RESEARCH. The aim of the research is the assessment and the comparison of the effects of two methods of the treatment: 1) the therapy based on general exercises focused on the lumbosacral spine combined with Kinesiology Taping and 2) the therapy based on general exercises focused on the pain intensisty and on the life quality of people with chronic, non-specific pain of the lumbosacral spine among patients aged 25-55. MATERIALS AND METHODOLOGY. The research was conducted in a group of 50 people with chronic spine pain in the lumbosacral area. They were randomly divided into two groups: 1) the study group, where the ligament application of Kinesiology Taping was used for seven days (KT+GE), 2) the control group: no appliation of Kinesiology Taping (GE). Both groups took general exercises commonly used in the treatment of non-specific pain ailments of the lumbosacral spine for seven days. Durring the assessment of the effectiveness of the therapy the NRS scale (Numerical Rating Scale)and the Oswestry Low Back Pain Disability Scale questionnaire were used. RESULTS. At the end of the treatment in the KT+GE group the decrease of the average pain intensity was observed from 6,20 to 2,12 (median 6,00 vs 2,00). The decrease of the average pain intensity was also noted in the GE group from 6,20 to 3,48 (median 6,00 vs 4,00). The statistical analysis showed that both forms of the therapy had a statistically significant impact (p

PURPOSE: The aim of this study is the assessment of the relation between the transverse abdominal muscle (TRA) activity and the risk of occurrence of injuries and contusions as well as the number of injuries in a six-month observation. MATERIALS AND METHODS: The research was conducted in a group of 50 people, 29 men and 21 women. The assessment of the TRA activity was conducted with the use of Pressure Biofeedback Stabilizer (PBU) and the FMS test. The examined were divided into two groups. First comprises people with the proper transverse abdominal muscle activity, second consists of people with improper results. RESULTS: People with the proper transverse abdominal muscle activity gained higher average result (20,04 vs 18,11) and median value (20,00 vs 18,00) than people with the improper TRA activity according to the FMS test. The statistical analysis revealed that people with the improper TRA activity had statistically significant higher results in the FMS test than people with the improper TRA activity. The average number of injuries and contusions among people with the proper TRA activity equaled 0,70 (median 0,00), whereas, among people with the improper TRA activity equaled 1,92 (median 2,00). The statistical analysis revealed that people with the improper TRA activity had a statistically significant higher number of injuries and contusions during previous 6 months than people with the proper TRA activity. CONCLUSIONS: 1. The TRA activity has statistically significant effect on the risk of injuries and contusions occurrence, which according to the FMS test is higher among people with the improper TRA activity. 2. People with the improper TRA activity had remarkably higher number of injuries and contusions during previous 6 months than people with the proper TRA activity. 3. Statistically significant relation between the TRA activity and the number of injuries and contusions was demonstrated.

The SLR test (straight leg raise), often reffered to as Lasègue's test, is one of the most often used provocative manoeuvres among patients with the pain ailments of the lower back (LBP). For the first time it was described in 1880 by a Serbian doctor called Lazerevic and since then numerous versions od this test has developed (1). According to the authors' own experience, despite its large popularity in the clinical practice, the practitioners' interpretation of the test is often incorrect and is entirely confined to indicating the results in the dichotomous scale with the determination of the pain level. Such interpretation of the test cannot indicate the source of the pain ailments reported by the patients, all the more become a reference point for the treatment strategy. This study focues on the basic rules of neurodynamics and biomechanics of the SLR test and its varieties- the dynamic test of tibal, peroneal and sural nerves, which should serve as a model for working with the LBP patients.

Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem proteinopathy (MSP). hnRNPA1 is part of the group of RNA-binding proteins (RBPs) that assemble with RNA to form RNPs. hnRNPs are concentrated in the nucleus and function in pre-mRNA splicing, mRNA stability, and the regulation of transcription and translation. During stress, hnRNPs, mRNA, and other RBPs condense in the cytoplasm to form stress granules (SGs). SGs are implicated in the pathogenesis of (neuro-)degenerative diseases, including ALS and inclusion body myopathy (IBM). Mutations in RBPs that affect SG biology, including FUS, TDP-43, hnRNPA1, hnRNPA2B1, and TIA1, underlie ALS, IBM, and other neurodegenerative diseases. Here, we characterize 4 potentially novel HNRNPA1 mutations (yielding 3 protein variants: *321Eext*6, *321Qext*6, and G304Nfs*3) and 2 known HNRNPA1 mutations (P288A and D262V), previously connected to ALS and MSP, in a broad spectrum of patients with hereditary motor neuropathy, ALS, and myopathy. We establish that the mutations can have different effects on hnRNPA1 fibrillization, liquid-liquid phase separation, and SG dynamics. P288A accelerated fibrillization and decelerated SG disassembly, whereas *321Eext*6 had no effect on fibrillization but decelerated SG disassembly. By contrast, G304Nfs*3 decelerated fibrillization and impaired liquid phase separation. Our findings suggest different underlying pathomechanisms for HNRNPA1 mutations with a possible link to clinical phenotypes.

The AUC, i.e. the area under the receiver operating characteristic (ROC) curve, or its scaled version, the Gini coefficient, are the standard measures of the discriminatory power of credit scoring. Using binormal ROC curve models, we show how the shape of the curves affects the economic benefits of using scoring models with the same AUC. Based on the results, we propose that the shape parameter of the fitted ROC curve is reported alongside its AUC/Gini whenever the quality of a scorecard is discussed. [ABSTRACT FROM AUTHOR]

Aim of the study: The aim of the study was to evaluate the effectiveness of one cycle of rehabilitation procedures in patients diagnosed with cervical spine discopathy. Material and methods: The study included 100 patients (47 women and 53 men) aged 50 to 65 years (x = 57.5±4.2) with diagnosed discopathy in the lumbar spine. Patients were qualified to be examined by a physician based on the results of imaging tests and information provided in the interview. Patients were randomly divided into two groups of 50, in which two different ways of rehabilitation were applied in a 10-day ambulatory cycle. The average daily duration of therapy lasted 60 minutes. In the first group, patients underwent a series of treatments using kinesitherapy, laser therapy and magnetic field, while in the second group patients were subjected to a series of treatments using kinesitherapy, electrotherapy and TENS currents. The initial and final examination included the subjective scale of VAS pain, the ODI Oswestry questionnaire and the original scale of the assessment of the effectiveness of laser therapy, magnetic field or TENS currents. Results: Significantly less ailments were experienced by patients in a sitting position treated with laser therapy and magnetic field (M = 2.06) than with electrotherapy (M = 2.64) (p = 0.001). Less pain also caused them to travel (M = 1.78, M = 2.12) and these differences were statistically significant at p = 0.005. In patients treated with laser therapy and magnetic field, there was lower pain in a standing position (M = 2.46) than in patients treated with electrotherapy with TENS (M = 2.80) (p = 0.033). In addition, patients treated with laser therapy and magnetic field also experienced less discomfort in the conduct of social life (M = 1.86) than patients undergoing treatment with TENS (M = 2.32) (p = 0.001). Also in patients treated with laser therapy and magnetic field, significant changes in the intensity of pain were observed (M = 1.76) than in the second group (M = 2.30) - p = 0.000. In addition, patients treated with laser therapy and magnetic field showed a decrease in the level of disability (M = 20.82), while in patients treated with electrotherapy with TENS this change was lower (M = 23.22) - p = 0.000. The analysis of data on the subjective assessment of the effectiveness of rehabilitation therapy results shows that no statistically significant differences were observed due to the type of rehabilitation procedure applied. Conclusion: Kinezytherapy supported by physical procedures is an effective method of treatment of cervical spine discopathy.

In the practice of credit-risk management, the models for receiver operating characteristic (ROC) curves are helpful in describing the shape of an ROC curve, estimating the discriminatory power of a scorecard, and generating ROC curves without underlying data. The primary purpose of this study is to review the ROC curve models proposed in the literature, primarily in biostatistics, and to fit them to actual credit-scoring ROC data in order to determine which models could be used in credit-risk-management practice. We list several theoretical models for an ROC curve and describe them in the credit-scoring context. The model list includes the binormal, bigamma, bibeta, bilogistic, power, and bifractal curves. The models are then tested against empirical credit-scoring ROC data from publicly available presentations and papers, as well as from European retail lending institutions. Except for the power curve, all the presented models fit the data quite well. However, based on the results and other favourable properties, it is suggested that the binormal curve is the preferred choice for modelling credit-scoring ROC curves.

The theory of mind (ToM) is the ability to attribute mental states to others and is extremely important for social functioning. It has been widely examined in both behavioral and neuroimaging research, usually with the use of the many versions of the false-belief (FB) task. However, there is still not enough evidence from studies on the neurodevelopmental mechanisms of ToM mostly because of methodological limitations: lack of selectivity, mismatch of experimental and control tasks, and focusing on participants older than 6 years old. In the current study, we attempted to develop a computerized tool for ToM assessment suitable for both behavioral and neuriomaging testing in preschoolers. We designed a version of the classic change-of-location task with custom visuals and three fine-tuned conditions: FB, true-belief, and no-belief (NB). The usability of the task for further application in neurodevelopmental research was tested with three methods: first, behaviorally, with the use of a touch screen on a group of 75 children, followed by a functional MRI (fMRI) study on 13 adults, and a functional near-infrared spectroscopy (fNIRS) study on 19 preschool children. In line with our expectations, on the behavioral level, our task elicited the all-or-none performance in preschoolers. There was also a progression of performance with age in the FB condition. On the neural level, we observed the activation of structures involved in the ToM brain network in response to our task in both adults and children. The results therefore suggest that our task can be a useful tool for studying ToM development and its neural underpinnings.

In naturally occurring bovine mastitis, effects of infection depend on the host inflammatory response, including the effects of secreted cytokines. Knowledge about the inflammatory and regulatory cytokines in milk cells of free-stall barn dairy cows and in naturally occurring mastitis is lacking as most studies focus on induced mastitis. Hereby, the aim of the study was to determine inflammatory and regulatory cytokines in the milk of dairy cows with subclinical and clinical mastitis. The following examinations of milk samples were performed: differential counting of somatic cells (SCC), bacteriological examination, and immunocytochemical analysis. Mean SCC increased in subclinical and clinical mastitis cases. The number of pathogenic mastitis-causing bacteria on plates increased in subclinical mastitis cases but decreased in clinical mastitis. The inflammatory and regulatory markers in the milk cells of healthy cows showed the highest mean cell numbers (%). In mastitis cases, immunoreactivity was more pronounced for IL-4, IL-6, IL-12, IL-13, IL-17A, TNF-α, and IFN-γ. Data about subclinical and clinical mastitis demonstrate inflammatory responses to intramammary infection driven by IL-1α, IL-4, and IL-17A. Moreover, the host defense response in mastitis is characterized by continuation or resolution of initial inflammation. IL-12 and INF-γ immunoreactivity was recognized to differ mastitis cases from the relative health status.

The activity of each construction company in conditions of high competitiveness is exposed to a number of risks that make it difficult to maintain high financial liquidity. In order to provide the continuity of ongoing economic processes and to be able to develop, entities are forced to build optimal financial management strategies for them. Enterprises can choose between a conservative, moderate and aggressive strategy, which is largely determined by the way they manage their current assets and short-term liabilities. In the case of construction companies, it is also not without significance that they are particularly sensitive to fluctuations in the economic situation and changes in the macroeconomic environment, which imply the availability of funds. The purpose of this paper is to analyze the financial liquidity management strategy of construction sector Polish enterprises from the Podkarpackie Province in 2017–2019 and the impact of this strategy on the profitability of the surveyed entities. In order to achieve the goal, the issues related to the classification of financial liquidity and individual liquidity management strategies are discussed. The issues and the goal set determined the choice of research methods. Literature studies, the Mann–Whitney U test, cluster analysis and Ward’s method were used. The research was carried out on a group of the 10 largest construction companies from the Podkarpackie Province. The selection of entities for the research was deliberately based on enterprises that submit their financial statements to the National Court Register. The conducted research showed that small and large enterprises applied different liquidity management policies even though they operate in the same industry and region. The small entities preferred a conservative strategy, while large entities preferred a moderate strategy. The existence of an inverse relationship between the phenomenon of financial liquidity and profitability of economic entities was also confirmed.

The design processes based on parametric design and generative design allows multiple alternatives to be generated, analysed and corrected. The aim of the developed program was to automate the urban design concept development process for selected land units with a local development plan. This document, ordinances and other sources were the guidelines for the program to be developed. The solution-generating program starts by taking in the data, and then geometrical objects are created that have the right relationships to each other. Finally, results are evaluated on the basis of calculated indices and further generations are created taking into account the best options. This process must be overseen by a human, but with the development of machine learning and artificial intelligence, automation will progress, reducing human effort. The results of the study were collated and compared with other experiments in an in-depth literature review. [ABSTRACT FROM AUTHOR]

This study explores the suitability of (Cd,Mn)Te and (Cd,Mn)(Te,Se) as room-temperature X-ray and gamma-ray detector materials, grown using the Bridgman method. The investigation compares their crystal structure, mechanical and optical properties, and radiation detection capabilities. Both crystals can yield large-area single crystal samples measuring approximately 30 × 30 mm2. In low-temperature photoluminescence analysis, both materials showed defect states, and annealing in cadmium vapors effectively eliminated donor–acceptor pair luminescence in (Cd,Mn)Te but not in (Cd,Mn)(Te,Se). Moreover, harder (Cd,Mn)(Te,Se) exhibited a higher etch pit density compared to softer (Cd,Mn)Te. X-ray diffraction examination revealed uniform lattice constant distribution in both compounds, with variations at a part per million level. (Cd,Mn)Te crystals demonstrated excellent single crystal properties with narrower omega scan widths, while (Cd,Mn)(Te,Se) exhibited a high contribution of block-like structures with significantly larger misorientation angles. Spectroscopic evaluations revealed better performance of a pixelated (Cd,Mn)Te detector, in comparison to (Cd,Mn)(Te,Se), achieving a mean full width at half maximum of 14% for the 122 keV gamma peak of Co-57. The reduced performance of the (Cd,Mn)(Te,Se) detector may be attributed to deep trap-related luminescence or block-like structures with larger misorientation angles. In conclusion, Bridgman-grown (Cd,Mn)Te emerges as a more promising material for X-ray and gamma-ray detectors when compared to (Cd,Mn)(Te,Se). [ABSTRACT FROM AUTHOR]

This paper is the first country-specific analysis of the market-driven Smart Metering innovation system, covering technologies, actors, and policies. It provides new insights on the key enablers and barriers in the rollout of electricity Smart Meters (SMs) without binding regulatory mandate. The presented research is based on the Technology Innovation System (TIS) analysis for Poland, where an obligation scheme for the rolling out of SMs has been introduced very recently. Still, the number of SMs installed places the country in the top 10 Member States of the European Union. The implementation of SMs is progressing in a complex, multi-actor innovation system, shaped by the leading role of Distribution System Operators (DSOs). The article analyses the key elements of the SM innovation system (technologies and infrastructures, actors and networks, institutions and policies) and characterizes their interaction based on desk research and a critical assessment of regulations, statistics, and literature. The major enablers of the rollout are DSOs expectations of benefits, which have been instigated by the market regulator’s benevolence in tariffs approval. On the other hand, the major barriers are delayed and incomplete public policy instruments. Results of the study can inform the development of other market-driven SM deployments around the world.

Collagen VI-related myopathy is a group of disorders affecting skeletal muscles and connective tissue. The most common symptoms are muscle weakness and joint deformities which limit the movement and progress over time. Several forms of collagen VI-related myopathies have been described: Bethlem myopathy, an intermediate form and Ullrich congenital muscular dystrophy, which is the most severe. Here we report a novel de novo c.1056+3A>C substitution in intron 14 of the COL6A1 gene encoding alpha-chains of collagen VI in a 13-year-old girl suffering from collagen VI (ColVI) myopathy. Analysis performed on cDNA generated from the RNA obtained from the patient’s blood cells showed that the reported variant leads to the entire exon 14 skipping and probably results in an in-frame deletion of 18 amino acids of the COL6A1 protein. Clinical presentation, abnormal secretion of the collagen demonstrated in muscle biopsy and the COL6A1 c.1056+3A>C mutation justify classification of the presented case as ColVI myopathy with moderate-progressive course. Analysis of the literature indicates that the donor splice site of COL6A1 intron 14, associated with the phenotype of Bethlem myopathy or intermediate form, is a hot spot for ColVI myopathies.