59 research outputs found
Total knee arthroplasty in valgus knee deformity: is it still a challenge in 2021?
Total knee arthroplasty in valgus knee deformities continues to be a challenge for a surgeon. Approximately 10% of patients who undergo total knee arthroplasty have a valgus deformity. While performing total knee arthroplasty in a severe valgus knee, one should aware with the technical aspects of surgical exposure, bone cuts of the distal femur and proximal tibia, medial and lateral ligament balancing, flexion and extension gap balancing, creating an appropriate tibiofemoral joint line, balancing the patellofemoral joint, preserving peroneal nerve function, and selection of the implant regarding constraint. Restoration of neutral mechanical axis and correct ligament balance are important factors for stability and longevity of the prosthesis and for good functional outcome. Thus, our review aims to provide step by step comprehensive knowledge about different surgical techniques for the correction of severe valgus deformity in total knee arthroplasty
Neurobiology of performance anxiety:A new approach
The aim of this study is to investigate the neurobiology of stress/emotionality, creating a multidisciplinary assessment model, which can help to provide psychological and physiological responses depending on the genetic background related to sport performances, social closeness and performance anxiety management in team sports. We enrolled 20 female volleyball players aged 13 \ub1 1 years old played in two different teams during a regional championship final. Saliva collection was carried out before and after the match. In order to evaluate the neuroendocrine effectors involved in stress and performance, we analyzed cortisol and progesterone levels through Elisa standard kit as well as HSP70 and amylase activity as stress-induced markers. As concern the psychometric assesment, we administrated he CSAI-2 test, Closeness Generating Procedure and STAI test. Genomic DNA was isolated from saliva cells using a QIAamp saliva kit according to the manufacturer\u2019s protocols. The SNP of the 5-HTTLPR, BDNF, DRD4 were analyzed. The results of the T-test performed on the total results showed a statistically significant relationship (p < 0.05) in cortisol levels pre and post match, as well between amylase and HP70 according to the genetic background. The analysis performed using just post match samples show a negative correlation between social closeness, cortisol and progesterone levels, with p < 0.010 for progesterone vs social closeness and p < 0.012 for cortisol vs social closeness. About the winner teams and the looser teams, there is a negative correlation between pre match cortisol levels and performance anxiety (p < 0.042)
First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report
Background: Loeys-Dietz syndrome (LDS) is a rare multisystemic disorder characterized by vascular and skeletal abnormalities, with considerable intra- and interfamilial variability. Case presentation: We report the case of an 8-year-old male with clinical features of two distinct genetic disorders, namely LDS, manifesting in the first months by progressive aortic root dilatation, arterial tortuosity, bifid uvula, and inguinal hernias and oculocutaneous albinism (OCA) manifesting by white hair and skin that does not tan, nystagmus, reduced iris pigment with iris translucency, and reduced retinal pigment). We identified previously reported, homozygous mutations of TYR, c.1A > G (p.Met1Val) and heterozygous, missense mutation of TGFBR1, c.1460G > A (p.Arg487Gln). Family history revealed that his mother underwent multiple surgical repairs for recurrent hemorrhage originating from the buccal artery. Molecular studies confirmed a maternally inherited low grade TGFBR1 mutation somatic mosaicism (18% in peripheral blood leukocytes, 18% in buccal cells and 10% in hair root cells). Maternal cardiac investigations revealed peculiar cardiovascular features: mild tortuosity at the aortic arch, dilatation of the proximal abdominal aorta, multiple deep left ventricular myocardial crypts, and dysplastic mitral valve. TGFBR2 germline mosaicism has been described in three fathers of children carrying TGFBR2 mutations but, to the best of our knowledge, no case of maternally inherited TGFBR1 mutation mosaicism has been reported so far. Conclusions: This case report suggests that individuals with somatic mosaicism might be at risk for mild and unusual forms of LDS but germline mosaicism can lead to full blown picture of the disease in offspring
Cognitive and motivational monitoring during enriched sport activities in a sample of children living in Europe. The ESA program
Enriched Sport Activities (ESA) Program is an Evidence-based Practice Exercise Program cofounded
by the Erasmus + Programme of the European Union (Key action: Sport-579661-EPP-1-2016-2-IT-SPO-SCP).
It aims to enhance social inclusion, equal opportunities and psycho-physical wellbeing in children with
typical development and special needs. This aim will be pursued through two ways: (1) Children and
preadolescents’ participation in Enriched Sport Activities (ESA) Program; (2) Parents’ involvement and
education on cognitive, motivational and social benefits of Physical Activities (PA) in their children.
Recent research showed that high-level cognitive processes, such as inhibition, shifting, working
memory and planning, can be improved by aerobic exercise programs following both single bouts
of exercise and longer trainings from moderate to vigorous intensity [1]. Nevertheless, in the
developmental age, structured sport activities, such as martial arts, basketball, soccer, rowing and
dancing, act by delivering both physical and psychological benefits. The former involve physical
fitness such as cardiorespiratory fitness, muscular strength, muscular endurance, flexibility and motor
skills such as coordination, whilst the latter concern enjoyment, self-confidence and self-esteem, a sense
of belonging and social support [2–4]. The effectiveness of PMA (Programma Motorio Arricchito),
a structured motor program on coordination and executive functioning in kindergarten children,
has been demonstrated [5]
Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination
We report on a case of EWSR1-PATZ1 rearranged brain tumor occurring in a 17 month-old child, originally interpreted as an infantile glioblastoma. Our case shows important analogies with the 2 previously reported cases, including the intraventricular location, the histologic appearance (pushing borders, oligodendrocyte-like morphology, rich vascular network) and the glioneural immunophenotype, supporting the role of these features as relevant clues to the diagnosis. On the other hand, our case displays unique characteristics, i.e. the onset in an infant, the presence of a focal high-grade component and the leptomeningeal dissemination, pointing to the importance of considering this entity in the differential diagnosis of an infantile glial/glioneural tumor
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Deep learning(s) in gaming disorder through the user-avatar bond: a longitudinal study using machine learning
Background and aims: Gaming disorder [GD] risk has been associated with the way gamers bond with their visual representation (i.e., avatar) in the game-world. More specifically, a gamer's relationship with their avatar has been shown to provide reliable mental health information about the user in their offline life, such as their current and prospective GD risk, if appropriately decoded.
Methods: To contribute to the paucity of knowledge in this area, 565 gamers (Mage = 29.3 years; SD =10.6) were assessed twice, six months apart, using the User-Avatar-Bond Scale (UABS) and the Gaming Disorder Test. A series of tuned and untuned artificial intelligence [AI] classifiers analysed concurrently and prospectively their responses.
Results: Findings showed that AI models learned to accurately and automatically identify GD risk cases, based on gamers' reported UABS score, age, and length of gaming involvement, both concurrently and longitudinally (i.e., six months later). Random forests outperformed all other AIs, while avatar immersion was shown to be the strongest training predictor.
Conclusion: Study outcomes demonstrated that the user-avatar bond can be translated into accurate, concurrent and future GD risk predictions using trained AI classifiers. Assessment, prevention, and practice implications are discussed in the light of these findings
A classroom-based intervention targeting working memory, attention and language skills in 4-5 year olds (RECALL): a study protocol for a cluster randomised feasibility trial
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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this study, we obtained phenotype and genotype information of 26 further individuals from 16 families. Among the 27 different ZNF142 variants identified in the total of 35 individuals only four were missense. Missense variants may give a milder phenotype by changing the local structure of ZF motifs as suggested by protein modeling; but this correlation should be validated in larger cohorts and pathogenicity of the missense variants should be investigated with functional studies. Clinical features of the 35 individuals suggest that biallelic ZNF142 variants lead to a syndromic neurodevelopmental disorder with mild to moderate ID, varying degrees of delay in language and gross motor development, early onset seizures, hypotonia, behavioral features, movement disorders, and facial dysmorphism. The differences in symptom frequencies observed in the unpublished individuals compared to those of published, and recognition of previously underemphasized facial features are likely to be due to the small sizes of the previous cohorts, which underlines the importance of larger cohorts for the phenotype descriptions of rare genetic disorders
Happiness in Physical Activity: A Longitudinal Examination of Children Motivation and Negative Affect in Physical Activity
Physical activity has beneficial effects on health and is extremely recommended for children's well-being. Understanding risk factors that could cause negative affect in children practicing physical activity is hugely relevant, and there is a growing consensus that autonomous and controlled motivation in the self-determination theory (SDT) framework could offer a broader perspective. Consequently, this study aims to examine the longitudinal relations between autonomous motivation, controlled motivation, and negative affect in physical activity, using a sample of children that regularly participate in physical activity. One hundred forty children in the range age between 7 and 11 (M = 8.45, SD = 0.93) that regularly participated in physical activity completed a battery of questionnaires at two times. Results of the cross-lagged structural model showed that controlled motivation at T1 positively predicts negative affect in physical activity at T2. Overall, the results of this study support the hypotheses based on the SDT framework regarding the role of motivation to predict affects in the physical activity context
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