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ABSTRACT Shprintzen‐Goldberg‐syndrome (SGS) is caused by pathogenic exon 1 variants of SKI. Symptoms include dysmorphic features, skeletal and cardiovascular comorbidities, and cognitive and developmental impairments. We delineated the neurodevelopmental and behavioral features of SGS, as they are not well‐documented. We collected physician‐reported data of people with molecularly confirmed SGS through an international collaboration. We identified and deep‐phenotyped the neurodevelopmental and behavioral features in four patients. Within our cohort, all exhibited developmental delays in motor skills and/or speech, with the average age of first words at 2 years and 6 months and independent walking at 3 years and 5 months. All four had learning disabilities and difficulties regulating emotions and behavior. Intellectual disability, ranging from borderline to moderate, was present in all four participants. Moreover, we reviewed the literature and identified 52 additional people with SGS, and summarized the features across both datasets. Mean age was 23 years (9–48 years). When combining our cohort and reported cases, we found that 80% (45/56) had developmental and/or cognitive impairment, with the remainder having normal intelligence. Our study elucidates the developmental, cognitive, and behavioral features in participants with SGS and contributes to a better understanding of this rare condition. [ABSTRACT FROM AUTHOR]

Low friction ice sliding interfaces were critical for ski performance optimization. Traditional fluorinated ski waxes have attracted considerable attention for enhancing the hydrophobicity, anti-wearing, and oxidation resistance of ski-ice base. However, the toxicity and complexity of the waxing process limited batch manufacturing of low-cost and non-toxic ski-ice base, what is more, the wax covering on the base wore and failed during skiing due to the friction between ski and ice. Herein, we demonstrated a novel ultra-high molecular weight polyethylene (UHMWPE) composite that could maintain a low coefficient of friction (COF) with about 0.026 for at least 160 min when skiing on the ice. Microcapsule (MS) could release liquid (liquid paraffin (LP)). The released LP further enhanced the hydrophobicity of UHMWPE's surfaces when friction occurred, which would maintain the stability and durability of the water film, and achieved superior and long-lasting friction resistance. Compared with other microcapsules with lower hydrophobic core, microcapsules with LP performed the best in reducing the friction of ski base from 0.126 to 0.024. Meanwhile, the COF of the surface kept at about 0.02 even after 12 rapid temperature changes. The presented UHMWPE composite of encapsulated liquids showed great potential and broad application owing to its simplicity and efficiency in winter sports. [ABSTRACT FROM AUTHOR]

The glial scar that forms at the site of injury after spinal cord injury (SCI) is an important physical and biochemical barrier that prevents axonal regeneration and thus delays functional recovery. Ski is a multifunctional transcriptional co-regulator that is involved in a wide range of physiological and pathological processes in humans. Previous studies by our group found that Ski is significantly upregulated in the spinal cord after in vivo injury and in astrocytes after in vitro activation, suggesting that Ski may be a novel molecule regulating astrocyte activation after spinal cord injury. Further studies revealed that knockdown or overexpression intervention of Ski expression could significantly affect the proliferation and migration of activated astrocytes. To further verify the effect of knockdown of Ski expression in vivo on glial scar formation and neurological function after spinal cord injury, we prepared a rat spinal cord injury model using Allen’s percussion method and used lentivirus as a vector to mediate the downregulation of Ski in the injured spinal cord. The results showed that knockdown of Ski expression after spinal cord injury significantly suppressed the expression of glial fibrillary acidic protein (Gfap) and vimentin, hallmark molecules of glial scarring, and increased the expression of neurofilament protein-200 (Nf-200) and growth-associated protein (Gap43), key molecules of axon regeneration, as well as Synaptophysin, a key molecule of synapse formation expression. In addition, knockdown of Ski after spinal cord injury also promoted the recovery of motor function. Taken together, these results suggest that Ski is able to inhibit the expression of key molecules of glial scar formation, and at the same time promotes the expression of molecules that are markers of axonal regeneration and synapse formation after spinal cord injury, making it a potential target for targeted therapy after spinal cord injury. [ABSTRACT FROM AUTHOR]

Abstract The present study compared the isocapnic buffering phase (ICB), hypocapnic hyperventilation phase, ventilatory threshold (VT), respiratory compensation point (RCP), and maximum oxygen uptake (VO2max) among biathlon and cross-country ski athletes during an incremental exercise test. 37 male and 33 female Turkish National Team athletes volunteered to participate in the research. Body fat percentage, lean mass, and fat mass values of athletes were measured using the bioelectrical impedance analysis method, and oxygen consumption (VO2) was measured with a portable cardiopulmonary exercise test system with a ramp protocol on the treadmill. In VT, RCP, and VO2max phases, male athletes had higher VO2 and speed values than female athletes (p 0.05). Additionally, XC skiers and males had higher absolute (Abs) VO2 and mass-normalized (Rel) VO2 values than biathletes and females in exhaustion times and ICBs (p 0.05). In addition, XC skiers and males had higher absolute (Abs) VO2 and relative (Rel) VO2 values than biathletes and females in exhaustion times and ICBs (p 0.05). These results indicate significant differences in physiological profiles between male and female athletes and between XC skiers and biathletes.

This study aimed to examine the levels of leisure involvement and perceived leisure constraints of individuals who ski and snowboard based on various characteristics. The study group of research consisted of 796 individuals (Mage=32.48±12.82) who ski/snowboard in 5 ski resorts in Turkey. In the research, "Leisure Involvement Scale" (LIS) and "Leisure Constraints Scale" (LCS) were used as data collection tools. MANOVA, and ANOVA analyses were used to analyze the collected data. According to the MANOVA results with regard to gender, there were statistically significant differences between the average scores of the groups in all subscales of the "LIS" except the "interpersonal constraints" subscale of the "LCS". There was no significant difference between the participants' "LCS" mean scores according to the education level variable. On the other hand, it was found that there were statistically significant differences in all subscales of the "LIS" of the participants concerning the education level. The average scores of participants with master's/doctoral education were found to be higher than others in all subscales where differences were observed. According to the results of the analysis based on the activity type variable of the participants, there are significant differences only in the "intrapersonal factors" of the "LCS" and all subscales of the "LIS". MANOVA analysis results revealed that the average scores of the participants in all subscales of "LCS", "interpersonal constraints" "intrapersonal constraints" and "LIS" differed significantly according to the variable of having their materials. As a result, it was concluded that the most important factor that constrained individuals from participating in ski and snowboard sports as a leisure activity was "structural factors". In addition, it has been found that the three most important reasons why individuals are interested in skiing or snowboarding or both as winter sports are "attraction, "social bonding" and "centrality", respectively.

Denne artikkelen drøfter de sensoriske og sanselige uttrykkene og verdiene blant skikjørere som bedriver topptur i Tromsø, Nord-Norge. Fra et feltarbeid i vinterfjellet skildres empiriske turforløp som spiller opp sterke utslag av følelser, og underbygger betydningen av turlagsrelasjoner. Med inspirasjon fra sosialfenomenologiske antropologiske perspektiver og en autoetnografisk tilnærming beskriver denne artikkelen skikjørerens egne opplevelser. Blant disse følelsene – som forsterkes av det sosiale samspillet – er både frykt, mestring, eufori og glede fremtredende. Opplevelsene og følelsene som skikjørerne kjenner på, er tradisjonelt underkommuniserte innenfor snø- og skredforskning som fagfelt, men er likevel vesentlige å sette seg inn i hvis vi vil forstå hvordan skikjørere opptrer under utfordrende forhold. Artikkelen demonstrerer nytten av antropologiske perspektiver og kvalitativ metodisk tilnærming, ikke bare for en økt forståelse av skikjøring i bratt terreng, men for skredforskning som fagfelt i sin helhet.

Copyright of Research in Sport Education & Sciences is the property of Ataturk University Coordinatorship of Scientific Journals and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The incidence of paediatric fractures among winter sport athletes is not adequately studied. Our objective was to categorize fractures that occurred in paediatric skiers and snowboarders at a single ski resort. X-rays of 756 skiers/snowboarders aged 3–17 diagnosed with a fracture were categorized using the Salter-Harris (SH) classification. SH fractures were seen in 158 (21%) patients, with 123 (77%) being Type II. There were no significant differences between patients with a SH fracture and patients with a non-SH fracture for age, sex, snowboarding or skiing, mechanism of injury, terrain or the resort conditions on the day of injury. The most common mechanism of injury was falling onto snow while collisions resulted in more severe injuries. Compared to fractures without growth plate involvement, a higher proportion of SH fractures were seen in the humerus, radius, fibula and thumb; a lower proportion of SH fractures were observed at the tibia and clavicle. [ABSTRACT FROM AUTHOR]

The continuous annealing treatment of 5052 aluminum alloy pipe fittings for alpine skiing sticks was carried out in the temperature range of 300-500 °C by means of metallographic observation and mechanical property test. The results show that with the increase of annealing temperature, the strength and hardness of the samples decrease continuously, and the impact value, section shrinkage and elongation change significantly. The experimental results provide a technical reference for preventing the fracture of alpine skiing sticks during use. [ABSTRACT FROM AUTHOR]

Given that esophageal cancer is highly malignant, the discovery of novel prognostic markers is eagerly awaited. We performed serological identification of antigens by recombinant cDNA expression cloning (SEREX) and identified SKI proto‐oncogene protein and transmembrane p24 trafficking protein 5 (TMED5) as antigens recognized by serum IgG antibodies in patients with esophageal carcinoma. SKI and TMED5 proteins were expressed in Escherichia coli, purified by affinity chromatography, and used as antigens. The serum anti‐SKI antibody (s‐SKI‐Ab) and anti‐TMED5 antibody (s‐TMED5‐Ab) levels were significantly higher in 192 patients with esophageal carcinoma than in 96 healthy donors. The presence of s‐SKI‐Abs and s‐TMED5‐Abs in the patients' sera was confirmed by western blotting. Immunohistochemical staining showed that the TMED5 protein was highly expressed in the cytoplasm and nuclear compartments of the esophageal squamous cell carcinoma tissues, whereas the SKI protein was localized predominantly in the nuclei. Regarding the overall survival in 91 patients who underwent radical surgery, the s‐SKI‐Ab‐positive and s‐TMED5‐Ab‐negative statuses were significantly associated with a favorable prognosis. Additionally, the combination of s‐SKI‐Ab‐positive and s‐TMED5‐Ab‐negative cases showed an even clearer difference in overall survival as compared with that of s‐SKI‐Ab‐negative and s‐TMED5‐Ab‐positive cases. The s‐SKI‐Ab and s‐TMED5‐Ab biomarkers are useful for diagnosing esophageal carcinoma and distinguishing between favorable and poor prognoses. [ABSTRACT FROM AUTHOR]

Background: Osteonecrosis of the femoral head (ONFH) is a common orthopedic disease, which seriously affects the quality of life of patients. Naringin has protective effect on ONFH. In present study, we aimed to investigate the mechanism of Naringin regulating miR-26a in ONFH. Methods: Two sequencing datasets (GSE89587 for micro-RNA, GSE123568 for mRNA) related to ONFH were obtained from the GEO database for bioinformatics analysis. Bone marrow-derived mesenchymal stem cells (BMSCs) were treated with adipogenic medium (AM) or osteogenic medium (OM), and then treated with 10 μM, 100 μM or 1000 μM Naringin. Gene and protein levels were detected by RT-qPCR and Western blotting. ALP activity and alizarin red staining (ARS) were applied to investigate the osteogenic differentiation of BMSCs. Oil red O staining was performed to test adipogenic differentiation. The content of triglycerides (TG) in BMSCs was detected by TG detection kit. Double luciferase reporter gene measured the interaction between miR-26a and Ski. Results: Bioinfomatic analyses indicated a significant downregulation of miR-26a and a significant upregulation of Ski in the peripheral blood of patients with ONFH. Naringin significantly promoted the osteogenic differentiation, and increased the ALP activity and ARS. Meanwhile, it decreased the adipogenic differentiation and inhibited TG levels. In addition, miR-26a was downregulated and Ski was increased in AM-treated BMSCs, while miR-26a was upregulated and Ski was decreased in OM-treated BMSCs. Furthermore, miR-26a promoted the osteogenic differentiation and suppressed the adipogenic differentiation in BMSCs. Moreover, Naringin enhanced osteogenic potential in BMSCs was reversed by knockdown of miR-26a or overexpression of Ski. Conclusion: Naringin could promote osteogenic differentiation of BMSCs via mediation of miR-26a/Ski axis. Thereby, Naringin might be a new agent for ONFH treatment.

Abstract Exercise slows or helps reverse the shrinkage of key cognitive brain regions such as the hippocampus, which is important for information processing, learning, reasoning and planning. For this reason, it is thought that regular exercise of individuals, especially during adolescence, which is considered one of the most important processes of development, can increase their performance in areas where cognitive activities are at the forefront. Cross-country skiing, one of the leading branches of winter sports, has a much more complex structure, unlike the branches that are widely preferred today (football, basketball, volleyball, etc.) and is a branch where many motor skills are exhibited at the same time For this reason, the effect of cross-country skiing, which is defined as more complex and difficult in terms of biomotor than other branches, on cognitive activities is a matter of curiosity. Therefore, the aim of the research is; to examine the cognitive effects of cross-country skiing exercise. The study involved 54 (26 male, 28 female) adolescents who had no prior experience in any licensed sports. The average age of the participants was determined as 12.61 ± 1.32. The participants were divided in experimental and control groups. Reaction performances were determined using the ÇAĞIN Hand and Foot Reaction Tests, selective attention performances were evaluated using the Flanker Test and academic achievement was determined using the e-Okul system. Two-way ANOVA revealed significant group × time interactions for hand and foot simple, selective, discriminative reaction time, selective attention and academic achievement (p 0.05). The study concludes that the cross-country skiing exercise, which was applied to adolescents for eight weeks, had a positive impact on the parameters of reaction, selective attention and academic achievement. Therefore, parents are suggested to encourage their children to exercise and engage in sports practices like cross-country skiing to improve cognitive and academic performance during adolescence.

Exercise slows or helps reverse the shrinkage of key cognitive brain regions such as the hippocampus, which is important for information processing, learning, reasoning and planning. For this reason, it is thought that regular exercise of individuals, especially during adolescence, which is considered one of the most important processes of development, can increase their performance in areas where cognitive activities are at the forefront. Cross-country skiing, one of the leading branches of winter sports, has a much more complex structure, unlike the branches that are widely preferred today (football, basketball, volleyball, etc.) and is a branch where many motor skills are exhibited at the same time For this reason, the effect of cross-country skiing, which is defined as more complex and difficult in terms of biomotor than other branches, on cognitive activities is a matter of curiosity. Therefore, the aim of the research is; to examine the cognitive effects of cross-country skiing exercise. The study involved 54 (26 male, 28 female) adolescents who had no prior experience in any licensed sports. The average age of the participants was determined as 12.61 ± 1.32. The participants were divided in experimental and control groups. Reaction performances were determined using the ÇAĞIN Hand and Foot Reaction Tests, selective attention performances were evaluated using the Flanker Test and academic achievement was determined using the e-Okul system. Two-way ANOVA revealed significant group × time interactions for hand and foot simple, selective, discriminative reaction time, selective attention and academic achievement (p < 0.05) due to improved values at post-test for the experimental group but not for the control groups. No significant group × time interactions were observed for correct reaction rate for all reaction parameters (p > 0.05). The study concludes that the cross-country skiing exercise, which was applied to adolescents for eight weeks, had a positive impact on the parameters of reaction, selective attention and academic achievement. Therefore, parents are suggested to encourage their children to exercise and engage in sports practices like cross-country skiing to improve cognitive and academic performance during adolescence. [ABSTRACT FROM AUTHOR]

The continuous annealing treatment of 5052 aluminum alloy pipe fittings for alpine skiing sticks was carried out in the temperature range of 300-500 °C by means of metallographic observation and mechanical property test. The results show that with the increase of annealing temperature, the strength and hardness of the samples decrease continuously, and the impact value, section shrinkage and elongation change significantly. The experimental results provide a technical reference for preventing the fracture of alpine skiing sticks during use.

Pendidikan pada era modern ini memiliki keterkaitan yang erat dengan kemajuan teknologi, yang menjadi salah satu aspek utama. Dalam konteks Perkembangan Ilmu Pengetahuan dan Teknologi (IPTEK) abad ke-21, guru diharapkan untuk memanfaatkan media pembelajaran yang inovatif dan kreatif sesuai dengan perkembangan zaman. Penelitian ini bertujuan untuk menelaah implementasi pembelajaran berbasis digital serta untuk menelaah kelebihan, dan kendalanya. Penelitian ini bersifat kualitatif deskriptif. Teknik pengumpulan data melalui observasi, wawancara, dan dokumentasi yang bertempat di MAN 3 Sragen. Setelah data terkumpul penulis menganalisis data melalui tiga langkah yaitu reduksi data, penyajian data, dan verifikasi data. Hasil penelitian ini menunjukan bahwa MAN 3 Sargen saat ini menggunakan media digital untuk mengajar, seperti PowerPoint, Quizizz, Google Forms, dan YouTube. Kelebihan dari pembelajaran berbasis digital pada MAN 3 Sragen yaitu kemampuan untuk menggambarkan materi dengan lebih baik, mengurangi penggunaan kertas, dan meningkatkan minat siswa terhadap pembelajaran. Selain itu, kendala yang dihadapi oleh guru termasuk masalah teknis seperti mati lampu, yang memerlukan solusi alternatif untuk terus mempelajari.

The use of nutritional strategies has become more widespread in recent years. This study investigates the effect of chocolate milk (CM) consumption on the recovery rate of elite male adolescent alpine skiers after intense training. Twelve male elite alpine skiers aged 13-16 years were randomly divided into two groups: chocolate milk (CM; n = 6) and placebo (PLA; n = 6). After exercise, the CM group was given 400 ml (200+200) of chocolate milk, and the PLA group took water (placebo) in the same regimen. Venous blood samples were taken before and 12 hours after drinking the fluids to determine the activity of selected enzymes, insulin, testosterone, glucose, and some minerals. It was observed that in the CM group, serum AST (Pre: 110.33±126.62 U/L vs. Post: 83.17±100.42 U/L) and CK (Pre: 2393.12±2542.22 U/L vs. Post: 1556.33±1401.45 U/L) activity, as well as testosterone (Pre: 21.12±3.59 ng/mL vs. Post: 15.19±4.96 ng/mL; p=0.028) and iron (Pre: 163.00±14.76 µg/dL vs. Post: 109.00±23.91 µg/dL; p=0.028), decreased significantly, but potassium (Pre: 4.38±0.16 mmol/L vs. Post: 4.64±0.09 mmol/L) and magnesium (Pre: 1.82±0.09 mg/dL vs. Post: 2.07±0.04 mg/dL) levels increased after supplementation compared to baseline levels (p

Knee osteoarthritis (KOA) is one of the most common degenerative diseases and is characterized by cartilage degeneration, synovial inflammation, joint stiffness and even loss of motor function. In the clinical treatment of arthritis, conventional analgesic and anti-inflammatory drugs have great side effects. We have evaluated the possibility of the endogenous transcription regulator Ski as an anti-inflammatory alternative in OA through experimental studies in animal models and in vivo and in vitro. Male Sprague‒Dawley rats were injected with monosodium iodoacetate (MIA) into the knee joints to induce symptoms identical to those of human OA. We isolated knee synovial tissue under sterile conditions and cultured primary synovial cells. In vitro, Ski inhibits the proinflammatory factors IL-1β, IL-6 and TNF-α mRNA and protein expression in lipopolysaccharide (LPS)-stimulated fibroblast-like synoviocytes (FLSs) and U-937 cells. In addition, Ski attenuates or inhibits OA-induced synovial inflammation by upregulating the protein expression of the anti-inflammatory factor IL-4 and downregulating the protein expression of downstream molecules related to the NF-κB inflammatory signaling pathway. In vivo, Ski downregulated proinflammatory factors and p–NF–κB p65 in KOA synovial tissue and alleviated pain-related behaviors in KOA rats. These experimental data show that Ski has strong anti-inflammatory activity. Ski is an endogenous factor, and if used in the clinical treatment of OA, the side effects are small. However, the anti-inflammatory mechanism of Ski must be further studied.

L'année 1932 marque le passage en France d'une pratique confidentielle à des formes multiples du ski de randonnée qui se détachent dans cette période. À une voie militaire du ski de randonnée qui persiste et où la domination de la Nature est recherchée symboliquement pour la formation des soldats, se développe une seconde voie, celle de l'« aventure », illustrée par la recherche de l'excellence et de la performance symbolisée plus particulièrement par l'essor des raids. Enfin, une voie « conviviale » vient compléter cette pluralité des formes de pratique du ski de randonnée en plaçant au cœur des préoccupations de ces pratiquants la recherche de loisirs où la logique contemplative de la Nature est valorisée. À travers cet article, il s'agit donc de montrer que la dynamique du ski de randonnée, présentée par les médias de cette époque, est non seulement exponentielle dans la France de l'entre-deux-guerres, mais aussi plurielle en termes de représentations sociales des formes de pratique de ce sport de montagne. The year 1932 marks the transition in France from a confidential practice to multiple forms of ski touring which stand out in this period. Alongside a military way of ski touring which persists and where the domination of Nature is symbolically sought for the training of soldiers, a second way is developing, the "adventure" way, illustrated by the search for excellence and the performance symbolized more particularly by the rise of raids. Finally, a "friendly" way completes this plurality of forms of ski touring by placing at the heart of the practitioners' concerns the search for leisure where the contemplative logic of Nature is valued. Through this article, it is therefore a question of showing that the dynamics of ski touring, presented by the media of this period, are not only exponential in France between the two wars but also plural in terms of representational forms of practice of this mountain sport. [ABSTRACT FROM AUTHOR]

Mountain-based tourism has been established in multiple ways, and a ski resort is just one of them. Most European snow tourism research has focused on the Alps, where a French Alpine model of generations of ski resorts, which uses the differential urban development of each generation as a marker, has been developed academically. This model has been used as a framework for this study with the goal of positioning Manzaneda within it. However, Manzaneda is the only winter resort in Galicia (Spain), and with more than 50 years of history, it seems to have had a controversial, problematic, and ambiguous development. This article also looks into the management, the effects of climate change, and the future visions of the winter resort by its main actors and local population. [ABSTRACT FROM AUTHOR]

This research aims to address the issue of students shunning SKI (Islamic Cultural History) due to its perceived boring nature and lecture-based teaching. The study suggests that educators should adopt a more student-centered approach, allowing for greater creativity and critical thinking. To facilitate this, the use of Google Sites is proposed as a tool for creating interactive and engaging teaching materials. The method used involves preparing students to access Google Sites and guiding them through its features and functions. The result shows that using Google Sites can make SKI more interesting and effective, and promote greater student engagement and participation. The research concludes by recommending the use of Google Sites as a valuable teaching resource for educators.

The present paper looks at the different positions two major international sport federations, the Fédération Internationale de Football Association (FIFA) and the Fédération Internationale de Ski (FIS), took with respect to East Germany during the 1950s. Because these positions were greatly influenced by FIFA's and the FIS's prior relations with Germany and by the challenges posed by global politics, this study begins by examining these relations during the interwar period. By combining information from the FIFA, FIS, and International Olympic Committee (IOC) archives with documents from the German national archives and articles published in Switzerland's sporting press, the authors were able to highlight differences between the two federations' approaches and show the need for studies to go beyond an IOC-centric approach. [ABSTRACT FROM AUTHOR]

The mechanisms of anterior cruciate ligament (ACL) injury while skiing and methods to prevent it have recently been elucidated. However, the rate of ACL injuries has not changed much over the past 10 years, remaining at approximately 10%. A total of 1,429 skiers responded to this questionnaire survey. Two hundred sixty-six skiers (14.4%) answered that they had undergone ACL reconstruction after a ski injury. It was found that 71.3% of skiers experienced injury once on one side, 17% on both sides and 7.3% twice on the same side. The self-recognized posture at the time of the ski injury was backward bending and the slip-catch mechanism in approximately 20%. Concerning the most common perceived injury in skiers the response was ACL injury in 90%, MCL injury in approximately 50% and shoulder dislocation or fracture in approximately 30%. Significantly more skiers who had experienced ACL injury than those who had not (non-injured skiers) answered that (i) ACL injury can be prevented, (ii) stretching, trunk exercises, and knee-strength and balance exercises serve as preparatory exercises before skiing, and (iii) the ham-strings and trunk are important exercise areas. [ABSTRACT FROM AUTHOR]

Copyright of Research in Sport Education & Sciences is the property of Ataturk University Coordinatorship of Scientific Journals and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Mediterranean Journal of Sport Science (MJSS) is the property of Mediterranean Journal of Sport Science (MJSS) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Triplication of chromosomal region 1p36.3 is a rare genomic rearrangement. In this report, we delineate the phenotypic spectrum associated with 1p36.3 triplications. We describe four patients with microtriplications of variable size, but with a strong phenotypic overlap, and compare them to previously described patients with an isolated triplication or duplication of this region. The 1p36.3 triplication syndrome is associated with a distinct phenotype, characterized by global developmental delay, moderate intellectual disability, seizures, behavioral problems, and specific facial dysmorphic features, including ptosis, hypertelorism, and arched eyebrows. The de novo occurrence of these microtriplications demonstrates the reduced reproductive fitness associated with this genotype, in contrast to 1p36.3 duplications which are mostly inherited and can be associated with similar facial features but with a less severe developmental phenotype. The shared triplicated region encompasses four disease‐related genes of which GABRD and SKI are most likely to contribute to the phenotype. [ABSTRACT FROM AUTHOR]

The use of nutritional strategies has become more widespread in recent years. This study investigates the effect of chocolate milk (CM) consumption on the recovery rate of elite male adolescent alpine skiers after intense training. Twelve male elite alpine skiers aged 13-16 years were randomly divided into two groups: chocolate milk (CM; n = 6) and placebo (PLA; n = 6). After exercise, the CM group was given 400 ml (200+200) of chocolate milk, and the PLA group took water (placebo) in the same regimen. Venous blood samples were taken before and 12 hours after drinking the fluids to determine the activity of selected enzymes, insulin, testosterone, glucose, and some minerals. It was observed that in the CM group, serum AST (Pre: 110.33±126.62 U/L vs. Post: 83.17±100.42 U/L) and CK (Pre: 2393.12±2542.22 U/L vs. Post: 1556.33±1401.45 U/L) activity, as well as testosterone (Pre: 21.12±3.59 ng/mL vs. Post: 15.19±4.96 ng/mL; p=0.028) and iron (Pre: 163.00±14.76 µg/dL vs. Post: 109.00±23.91 µg/dL; p=0.028), decreased significantly, but potassium (Pre: 4.38±0.16 mmol/L vs. Post: 4.64±0.09 mmol/L) and magnesium (Pre: 1.82±0.09 mg/dL vs. Post: 2.07±0.04 mg/dL) levels increased after supplementation compared to baseline levels (p<0.05). After taking into account the changes that occurred in the PLA group and significant differences in some variables in terms of between-group comparisons, it was found that the decrease in AST and CK activity, along with the presence of positive ionic changes in the serum after CM supplementation indicates a reduction in negative changes after training and improving the process of post-training regeneration in young male athletes. [ABSTRACT FROM AUTHOR]

Cellular translation surveillance rescues ribosomes that stall on problematic mRNAs. During translation surveillance, endonucleolytic cleavage of the problematic mRNA is a critical step in rescuing stalled ribosomes. Here we identify NONU-1 as a factor required for translation surveillance pathways including no-go and nonstop mRNA decay. We show that (1) NONU-1 reduces nonstop and no-go mRNA levels; (2) NONU-1 contains an Smr RNase domain required for mRNA decay; (3) the domain architecture and catalytic residues of NONU-1 are conserved throughout metazoans and eukaryotes, respectively; and (4) NONU-1 is required for the formation of mRNA cleavage fragments in the vicinity of stalled ribosomes. We extend our results in C. elegans to homologous factors in S. cerevisiae, showing the evolutionarily conserved function of NONU-1. Our work establishes the identity of a factor critical to translation surveillance and will inform mechanistic studies at the intersection of translation and mRNA decay.

Background Moderate altitudes carry physiological and metabolic changes that can dampen exercise performance. Fortunately, these changes can be modulated by an optimal nutritional intervention. This case study represents the first nutritional intervention of a moderate altitude athlete. These results may help to establish well-designed nutritional guidelines for moderate altitude sports athletes. Case presentation This case study examined the effects of a 11-week nutritional intervention on body composition, muscle strength, cardiorespiratory fitness, resting and exercise nutrient oxidation, and subjective sleep quality, in a male high-level moderate altitude athlete with a very light non-exercise activity thermogenesis. During the 11-week of nutritional intervention, 2800-3500 kcal/day, 6.8-8.9 g/kg/day of carbohydrates, 1.2-1.7 g/kg/day of protein, and 1-2.5 g/kg/day of fat were prescribed. Different specific considerations were also included, such as: iron supplementation, antioxidants increment in different phases, and ergogenic aids (i.e. creatine and beta-alanine). Our results demonstrated a decrease in adiposity and an increase in fat-free mass. In parallel, the athlete improved muscle strength, and therefore endurance adaptations after a maximal effort test (i.e. enhancement of the heart rate recovery). After the intervention, the athlete not only increased the carbohydrate oxidation during exercise and resting conditions but also improved his subjective sleep quality. Conclusions Our results suggest that a nutritional intervention based on the endurance nutritional recommendations and adapted to the altitude physiological peculiarities can induce body re-composition, improve physiological adaptations to effort, and upgrade the substrate oxidation in a moderate altitude high-level athletes.

Cholangiocarcinoma (CC) has a poor prognosis and different driver genes depending on the site of onset. Intrahepatic CC is the second‐most common liver cancer after hepatocellular carcinoma, and novel therapeutic targets are urgently needed. The present study was conducted to identify novel therapeutic targets by exploring differentially regulated genes in human CC. MicroRNA (miRNA) and mRNA microarrays were performed using tissue and serum samples obtained from 24 surgically resected hepatobiliary tumor cases, including 10 CC cases. We conducted principal component analysis to identify differentially expressed miRNA, leading to the identification of miRNA‐3648 as a differentially expressed miRNA. We used an in silico screening approach to identify its target mRNA, the tumor suppressor Sloan Kettering Institute (SKI). SKI protein expression was decreased in human CC cells overexpressing miRNA‐3648, endogenous SKI protein expression was decreased in human CC tumor tissues, and endogenous SKI mRNA expression was suppressed in human CC cells characterized by rapid growth. SKI‐overexpressing OZ cells (human intrahepatic CC cells) showed upregulation of cyclin‐dependent kinase inhibitor p21 mRNA and protein expression and suppressed cell proliferation. Nuclear expression of CDT1 (chromatin licensing and DNA replication factor 1), which is required for the G1/S transition, was suppressed in SKI‐overexpressing OZ cells. SKI knockdown resulted in the opposite effects. Transgenic p21‐luciferase was activated in SKI‐overexpressing OZ cells. These data indicate SKI involvement in p21 transcription and that SKI–p21 signaling causes cell cycle arrest in G1, suppressing intrahepatic CC cell growth. Therefore, SKI may be a potential therapeutic target for intrahepatic CC.

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Introduction: Patellofemoral disorders are multifactorial in nature and encompass a wide variety of problems ranging from pain to instability that can affect snow sport athletes. Objectives: We aim to describe the injuries and treatments of the patellofemoral joint in winter sport athletes. Methods: We reviewed and analyzed the current literature on patellofemoral disorders and treatments in winter sport athletes, and additionally report on our own experience in treating these athletes. Results: In addition to the morphologic risk factors that can predispose patients to patellofemoral disorders, multiple extrensic factors related to snow sports should be taken into account when treating skiers and snowboarders with patellofemoral disorders. The unique interactions with equipment and environment can play important roles in either preventing or predisposing toward injury. Conclusions: Knowledge and understanding of injury biomechanics in winter sports and their predisposing factors can allow for the optimal management of patellofemoral disorders in athletes who participate in these sports.

In the course of identifying and cleaving RNA, the RNAi machinery must encounter and contend with the megadalton-sized ribosomes that carry out translation. We investigated this interface by examining the fate of actively translated mRNAs subjected to RNAi in C. elegans Quantifying RNA levels (RNA-seq) and ongoing translation (Ribo-seq), we found there is a greater fold repression of ongoing translation than expected from loss of RNA alone, observing stronger translation repression relative to RNA repression for multiple, independent double-stranded RNA triggers, and for multiple genes. In animals that lack the RNA helicase SKI complex and the ribosome rescue factor PELOTA, ribosomes stall on the 3' edges of mRNAs at and upstream of the RNAi trigger. One model to explain these observations is that ribosomes are actively cleared from mRNAs by SKI and PELO during or following mRNA cleavage. Our results expand prior studies that show a role for the SKI RNA helicase complex in removing RNA targets following RNAi in flies and plants, illuminating the widespread role of the nonstop translation surveillance in RNA silencing during RNAi. Our results are also consistent with proposals that RNAi can attack messages during active translation.

Despite a prominent risk factor for Neurodevelopmental disorders (NDD), it remains unclear how Autism Susceptibility Candidate 2 (AUTS2) controls the neurodevelopmental program. Our studies investigated the role of AUTS2 in neuronal differentiation and discovered that AUTS2, together with WDR68 and SKI, forms a novel protein complex (AWS) specifically in neuronal progenitors and promotes neuronal differentiation through inhibiting BMP signaling. Genomic and biochemical analyses demonstrated that the AWS complex achieves this effect by recruiting the CUL4 E3 ubiquitin ligase complex to mediate poly-ubiquitination and subsequent proteasomal degradation of phosphorylated SMAD1/5/9. Furthermore, using primary cortical neurons, we observed aberrant BMP signaling and dysregulated expression of neuronal genes upon manipulating the AWS complex, indicating that the AWS-CUL4-BMP axis plays a role in regulating neuronal lineage specification in vivo. Thus, our findings uncover a sophisticated cellular signaling network mobilized by a prominent NDD risk factor, presenting multiple potential therapeutic targets for NDD. [ABSTRACT FROM AUTHOR]

Summary: Objectives: Current standards require ski helmets to meet acceleration criteria during impacts to a rigid surface, but do not require helmets to be evaluated for head impacts to snow, which is a common cause of traumatic brain injury in skiing and snowboarding. The objective of this study is to measure head linear acceleration during impacts to snow, with and without a ski helmet. Methods: A portable test bench was developed and used to perform drop test of an instrumented headform onto groomed ski slopes. Impacts were made on the top of the head with and without a helmet, at three speeds (5.3 ​m/s, 6.1 ​m/s, 7.5 ​m/s) and on three types of snow (soft, hard, very hard). Head linear acceleration, HIC, snow hardness, and penetration of the head into the snow were recorded. Statistical analysis was performed using factorial ANOVAs. Results: 96 impacts were performed. The mean peak head linear acceleration was 51G (±6G), 106G (±29G), and 170G (±27G) on soft, hard, and very hard snow, respectively, at 6.1 ​m/s. Head acceleration and HIC exceeded published thresholds for concussion and skull fracture in 85 and 28 impacts respectively. Head linear acceleration significantly increased with impact speed (p ​

Objectives: To determine typical speeds of skiers and snowboarders on-piste groomed trails across the United States (US). Design and methods: On-slope speeds of skiers and snowboarders were measured on trails of varying difficulty at 8 ski areas across the US. The trail difficulty designation and slope were documented for each location where speed measurements were taken. The equipment used (skis or snowboard), whether a helmet was worn, and the estimated ability (determined by the researchers) of snowsports participants were recorded. A multiple linear regression analysis was performed to determine the influence of these individual and environmental factors on the speeds of snowsports participants. Results: 4164 speed observations were made between 2004 and 2020 on groomed trails at 8 ski areas representing 5 geographic regions in the United States. Across all observations, the average speed was 34.9 ​± ​13.6 ​km/h. The ability of the snowsports participant had the largest effect on speed. Advanced snowsports participants traveled faster (44.5 ​± ​11.7 ​km/h) than intermediates (32.4 ​± ​9.9) and beginners (19.9 ​± ​7.2). Skiers on average were faster (35.8 ​± ​13.8 ​km/h) than snowboarders (33.0 ​± ​13.2 ​km/h) and beginner and intermediate snowboarders were slower on average than their skiing counterparts. While the average speeds increased with increasing trail difficulty and slope, the correlation was weak (R2 ​= ​0.15). Conclusions: The ability of the snowsports participant was found to be the most influential factor affecting speed.

Objectives: Design parameters and landing impacts for selected snow park jumps in Switzerland were compared with the parameters recommended to increase the jumps’ safety by the Swiss Council for Accident Prevention (BFU). High impact zones were identified to help snow park shapers optimize the design of their jumps. A rough estimate of the influence of snow hardness on landing impacts was also provided. Design: During the 2020/2021 winter season three-dimensional geometries of 23 jumps were captured using differential global navigation satellite system and terrestrial laser scanning. A point mass model was used to numerically calculate trajectories. The equivalent fall height (eFH) was used to quantify landing impacts and an empiric snow-deformation function was applied to take the effect of snow hardness into consideration. Workshops were held to discuss results and transfer findings. Methods: 2D-profiles of the jumps were estimated by projecting the captured 3D position data onto the longitudinal cross-section plane. Table and landing geometry were smoothed and interpolated to a spatial resolution of 0.1 ​m, while the kicker was fitted with a 2nd order polynomial. Trajectories were numerically calculated for take-off speeds from 6 to 17.6 ​m ​s−1 including aerodynamic forces using the Runge-Kutta method. The calculated eFH at the landing points were used to divide the landing into low-impact, medium-impact, and high-impact zones. Results: Medium sized jumps had a low-impact zone of sufficient length (>6 ​m) and eFH smaller than 1.5 ​m throughout the entire table meeting the BFU recommendations. Nevertheless, critical eFH larger than 1.5 ​m, were obtained when take-off speeds increased by only 1.14 ​m ​s−1. Large jumps had low-impact zone lengths in accord with the recommendations (>9 ​m), but high eFH (2.3–3.4 ​m) occurred for table landings. 10 of the 13 XL-jumps had long low-impact zones of approximately 12–15 ​m. Besides the risk of high impact landings towards the end of the landing area, as found similarly for the smaller jumps, portions of XL-jumps had very high eFH (2.6–4.6 ​m) for table landings. Conclusions: The study confirmed the existing BFU recommendations of size categories, design parameters and landing impacts limits as prevalent and practicable and provided knowledge for future safety recommendations. Modifying table geometries and taking measures to limit the in-run speeds would help reduce landing impacts, and the hazard due to hard snow conditions should also be considered.

Nonsense-mediated mRNA decay is the process by which mRNAs bearing premature stop codons are recognized and cleared from the cell. While considerable information has accumulated regarding recognition of the premature stop codon, less is known about the ensuing mRNA suppression. During the characterization of a second, distinct translational surveillance pathway (nonstop mRNA decay), we trapped intermediates in nonsense mRNA degradation. We present data in support of a model wherein nonsense-mediated decay funnels into the nonstop decay pathway in Caenorhabditis elegans. Specifically, our results point to SKI-exosome decay and pelota-based ribosome removal as key steps facilitating suppression and clearance of prematurely-terminated translation complexes. These results suggest a model in which premature stop codons elicit nucleolytic cleavage, with the nonstop pathway disengaging ribosomes and degrading the resultant RNA fragments to suppress ongoing expression.

Cholangiocarcinoma (CC) has a poor prognosis and different driver genes depending on the site of onset. Intrahepatic CC is the second‐most common liver cancer after hepatocellular carcinoma, and novel therapeutic targets are urgently needed. The present study was conducted to identify novel therapeutic targets by exploring differentially regulated genes in human CC. MicroRNA (miRNA) and mRNA microarrays were performed using tissue and serum samples obtained from 24 surgically resected hepatobiliary tumor cases, including 10 CC cases. We conducted principal component analysis to identify differentially expressed miRNA, leading to the identification of miRNA‐3648 as a differentially expressed miRNA. We used an in silico screening approach to identify its target mRNA, the tumor suppressor Sloan Kettering Institute (SKI). SKI protein expression was decreased in human CC cells overexpressing miRNA‐3648, endogenous SKI protein expression was decreased in human CC tumor tissues, and endogenous SKI mRNA expression was suppressed in human CC cells characterized by rapid growth. SKI‐overexpressing OZ cells (human intrahepatic CC cells) showed upregulation of cyclin‐dependent kinase inhibitor p21 mRNA and protein expression and suppressed cell proliferation. Nuclear expression of CDT1 (chromatin licensing and DNA replication factor 1), which is required for the G1/S transition, was suppressed in SKI‐overexpressing OZ cells. SKI knockdown resulted in the opposite effects. Transgenic p21‐luciferase was activated in SKI‐overexpressing OZ cells. These data indicate SKI involvement in p21 transcription and that SKI–p21 signaling causes cell cycle arrest in G1, suppressing intrahepatic CC cell growth. Therefore, SKI may be a potential therapeutic target for intrahepatic CC. [ABSTRACT FROM AUTHOR]

Objectives: Injuries on alpine ski slopes have been described in cohorts of a reasonable sample size, but constant improvements in safety gear, increased use of airborne rescue, and safety measures during the coronavirus disease 2019 (COVID-19) pandemic mandate re-evaluation. Therefore, the purpose of this study was to evaluate skiing and snowboarding injuries, effectiveness of airborne rescue, and impact of the COVID-19 pandemic on a large sample size.Methods: Data on alpine injuries were prospectively collected from the state emergency services dispatch center in the state of Tyrol (Austria). A total of 10,143 patients were identified, with an average age of 33.5 years (SD = 20.36). The ski patrol was involved in 8,606 cases (84.9%) and some patients (n = 1,536; 15.1%) required helicopter rescue.Results: A total of 10,143 patients were identified from the dataset of the emergency dispatch center. The most frequently injured region was the knee (30.2%), and it was followed by the shoulder (12.9%), the lower leg (9.5%), and the head/skull (9.5%).Conclusion: The present findings indicate that the most frequent site of injuries on alpine slopes is the knee, and life-threatening injuries are rare. Airborne rescue is very time-effective, however clinical studies with patient follow-up should be emphasized to determine the impact of airborne rescue on patient outcome. The present findings indicate that the duration of all rescue operations has been prolonged as a result of the introduction of safety measures during the COVID-19 pandemic. [ABSTRACT FROM AUTHOR]

This paper presents the findings of a preliminary investigation into factors affecting the destination choice of British skiers travelling to Bulgaria and particular, the choice between different resorts - Borovets, Bansko and Pamporovo. In the past various 'decision' elements can be found discussed in the literature, including income, family size, cost, accessibility, skill level, snow conditions and terrain diversity. However, in this research were given other suggestions related to the ski area - length of ski slopes, variety of ski slopes by difficulty, natural snow fall frequency and quality of the artificial snow on the ski slopes, capacity and quality of lifts and quality of ski instructors ability and ski hire equipment. Also, subjects like nature, transportation accessibility, hotel/accommodation quality, hospitality of local people and general "Value for money" are few of the most important features, which plays a role of a destination choice for the British skiers. According to the opinions of the specialists (respondents) shared in the individual interviews, the choice of a vacation destination and the formation of preferences for it is based on a recognizable image, a good reputation, awareness of the main competitive advantages of a given destination, and hence the importance of this image and reputation for the competitiveness of tourist destinations. [ABSTRACT FROM AUTHOR]

The glial scar that forms at the site of injury after spinal cord injury (SCI) is an important physical and biochemical barrier that prevents axonal regeneration and thus delays functional recovery. Ski is a multifunctional transcriptional co-regulator that is involved in a wide range of physiological and pathological processes in humans. Previous studies by our group found that Ski is significantly upregulated in the spinal cord after in vivo injury and in astrocytes after in vitro activation, suggesting that Ski may be a novel molecule regulating astrocyte activation after spinal cord injury. Further studies revealed that knockdown or overexpression intervention of Ski expression could significantly affect the proliferation and migration of activated astrocytes. To further verify the effect of knockdown of Ski expression in vivo on glial scar formation and neurological function after spinal cord injury, we prepared a rat spinal cord injury model using Allen's percussion method and used lentivirus as a vector to mediate the downregulation of Ski in the injured spinal cord. The results showed that knockdown of Ski expression after spinal cord injury significantly suppressed the expression of glial fibrillary acidic protein (Gfap) and vimentin, hallmark molecules of glial scarring, and increased the expression of neurofilament protein-200 (Nf-200) and growth-associated protein (Gap43), key molecules of axon regeneration, as well as Synaptophysin, a key molecule of synapse formation expression. In addition, knockdown of Ski after spinal cord injury also promoted the recovery of motor function. Taken together, these results suggest that Ski is able to inhibit the expression of key molecules of glial scar formation, and at the same time promotes the expression of molecules that are markers of axonal regeneration and synapse formation after spinal cord injury, making it a potential target for targeted therapy after spinal cord injury., Competing Interests: Declarations Conflict of interest The authors declare no competing interests. Ethical Approval All experimental steps were performed in accordance with the Chinese guidelines for animal protection and welfare and were approved by the Medical Ethics Committee of the Lanzhou University Second Hospital., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)