AIMS: To evaluate the prevalence, long-term mortality, and clinical characteristics in total cavopulmonary connection patients with excellent functional outcomes. METHODS AND RESULTS: A retrospective study of cardiopulmonary exercise test results in 288 patients after total cavopulmonary connection from a single-centre nationwide database. A subgroup of 88 (30.6%) patients (45 women; 51.1%), at a median age 13.0 [interquartile range 11.0; 18.0] years achieved ≥80% of predicted VO2peak value (Super-Fontan phenotype). Survival free from death or heart transplantation 20 years after surgery was 100.0% in the Super-Fontan group versus 94.0% in the rest of the cohort (p = 0.04). Super-Fontan patients were younger, had lower body mass index, lower regurgitant fraction on atrioventricular valve, and larger preoperative McGoon ratio than the rest of the cohort (p = 0.002, p < 0.0001, p = 0.004, and p = 0.04, respectively). Females and tricuspid atresia patients were significantly more prevalent in the Super-Fontan group than in the rest of the cohort (p = 0.02 for both). There was no difference regarding systemic ventricle morphology, fenestration presence, or ejection fraction of systemic ventricle between the Super-Fontan group and the rest of the total cavopulmonary connection cohort (p = 0.06, p = 0.09, and p = 0.64, respectively). CONCLUSIONS: The subgroup of Super-Fontan patients has unique clinical characteristics when compared to the rest of the total cavopulmonary connection nationwide cohort. Besides superior VO2peak results, Super-Fontan patients tend to have lower long-term mortality, body mass index, and atrioventricular valve, greater preoperative pulmonary dimensions, and a higher prevalence of females and tricuspid atresia patients. There was no variance in morphology of the systemic ventricle, or presence of fenestration.
- MeSH
- Child MeSH
- Fontan Procedure * MeSH
- Humans MeSH
- Survival Rate trends MeSH
- Adolescent MeSH
- Prevalence MeSH
- Retrospective Studies MeSH
- Risk Factors MeSH
- Tricuspid Atresia surgery mortality MeSH
- Heart Defects, Congenital * surgery mortality MeSH
- Exercise Test * MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Background: In Greek scientific literature, no other studies using emotional intelligence as a personal trait were found. Objective: The aim of this study was to explore the validity and reliability of the Trait Emotional Intelligence Questionnaire - Short Form in a Greek educational context. The internal consistency as well as the levels of emotional intelligence, along with the gender as a factor that differentiates emotional intelligence have also been examined. Methods: The sample of the study consisted of 306 (for exploratory factor analysis) and 415 (for confirmatory factor analysis) students who attended the 7th, 8th, and 9th grades of high school. The selection of the sample was randomly performed. The scale consists of 30 questions and four factors. The statistical analysis of the data included descriptive statistics, exploratory and confirmatory factor analysis, reliability analysis using Cronbach's α and discriminant/convergent validity, and t-test for independent samples. Results: The results of the confirmatory factor analysis demonstrated that the hypothesized model produced a significant χ2 (1026.58), normed fit index (.96) and comparative fit index (.97). The root mean square error of approximation (.78) was also considered to assess the degree extent to which the model of fit of. Composite reliability (≥ .948) and average variance extracted (≥ .751) of all dimensions of the Trait Emotional Intelligence Questionnaire - Short Form demonstrated an acceptable reliability coefficient. Conclusions: From the analysis of the results, we came to the following conclusions. The Trait Emotional Intelligence Questionnaire - Short Form constitutes an instrument credible enough to measure the emotional intelligence of high school male and female students. Gender is a differentiation factor for Total emotional intelligence, Self-control, and Well-being factors.
- MeSH
- Data Analysis MeSH
- Emotional Intelligence * MeSH
- Humans MeSH
- Adolescent MeSH
- Sex MeSH
- Surveys and Questionnaires MeSH
- Psychological Well-Being psychology MeSH
- Self-Control psychology MeSH
- Students psychology MeSH
- Check Tag
- Humans MeSH
- Adolescent MeSH
- Publication type
- Clinical Study MeSH
- Geographicals
- Greece MeSH
BACKGROUND: Tumor consistency is considered to be a critical factor for the surgical removal of meningiomas and its preoperative assessment is intensively studied. A significant drawback in the research of predictive methods is the lack of a clear shared definition of tumor consistency, with most authors resorting to subjective binary classification labeling the samples as "soft" and "hard." This classification is highly observer-dependent and its discrete nature fails to capture the fine nuances in tumor consistency. To compensate for these shortcomings, we examined the utility of texture analysis to provide an objective observer-independent continuous measure of meningioma consistency. METHODS: A total of 169 texturometric measurements were conducted using the Brookfield CT3 Texture Analyzer on meningioma samples from five patients immediately after the removal and on the first, second, and seventh postoperative day. The relationship between measured stiffness and time from sample extraction, subjectively assessed consistency grade and histopathological features (amount of collagen and reticulin fibers, presence of psammoma bodies, predominant microscopic morphology) was analyzed. RESULTS: The stiffness measurements exhibited significantly lower variance within a sample than among samples (p = 0.0225) and significant increase with a higher objectively assessed consistency grade (p = 0.0161, p = 0.0055). A significant negative correlation was found between the measured stiffness and the time from sample extraction (p < 0.01). A significant monotonic relationship was revealed between stiffness values and amount of collagen I and reticulin fibers; there were no statistically significant differences between histological phenotypes in regard to presence of psammoma bodies and predominant microscopic morphology. CONCLUSIONS: We conclude that the values yielded by texture analysis are highly representative of an intrinsic consistency-related quality of the sample despite the influence of intra-sample heterogeneity and that our proposed method can be used to conduct quantitative studies on the role of meningioma consistency.
- MeSH
- Collagen MeSH
- Humans MeSH
- Magnetic Resonance Imaging methods MeSH
- Meningeal Neoplasms * surgery pathology MeSH
- Meningioma * diagnostic imaging surgery pathology MeSH
- Reticulin MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene encoding alpha-galactosidase A (AGAL). The impact of X-chromosome inactivation (XCI) on the phenotype of female FD patients remains unclear. In this study we aimed to determine pitfalls of XCI testing in a cohort of 35 female FD patients. XCI was assessed by two methylation-based and two allele-specific expression assays. The results correlated, although some variance among the four assays was observed. GLA transcript analyses identified crossing-over in three patients and detected mRNA instability in three out of four analyzed null alleles. AGAL activity correlated with XCI pattern and was not influenced by the mutation type or by reduced mRNA stability. Therefore, AGAL activity may help to detect crossing-over in patients with unstable GLA alleles. Tissue-specific XCI patterns in six patients, and age-related changes in two patients were observed. To avoid misinterpretation of XCI results in female FD patients we show that (i) a combination of several XCI assays generates more reliable results and minimizes possible biases; (ii) correlating XCI to GLA expression and AGAL activity facilitates identification of cross-over events; (iii) age- and tissue-related XCI specificities of XCI patterning should be considered.
- MeSH
- alpha-Galactosidase genetics MeSH
- Chromosomes MeSH
- Fabry Disease * diagnosis genetics MeSH
- Phenotype MeSH
- X Chromosome Inactivation genetics MeSH
- Humans MeSH
- Mutation MeSH
- Check Tag
- Humans MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Personality traits influence risk for suicidal behavior. We examined phenotype- and genotype-level associations between the Big Five personality traits and suicidal ideation and attempt in major depressive, bipolar and schizoaffective disorder, and schizophrenia patients (N = 3012) using fixed- and random-effects inverse variance-weighted meta-analyses. Suicidal ideations were more likely to be reported by patients with higher neuroticism and lower extraversion phenotypic scores, but showed no significant association with polygenic load for these personality traits. Our findings provide new insights into the association between personality and suicidal behavior across mental illnesses and suggest that the genetic component of personality traits is unlikely to have strong causal effects on suicidal behavior.
- MeSH
- Depressive Disorder, Major * psychology MeSH
- Mental Health MeSH
- Phenotype MeSH
- Humans MeSH
- Personality genetics MeSH
- Suicidal Ideation * MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
It is primarily important to define the standard features and factors that affect dental pulp stem cells (DPSCs) for their broader use in tissue engineering. This study aimed to verify whether DPSCs isolated from various teeth extracted from the same donor exhibit intra-individual variability and what the consequences are for their differentiation potential. The heterogeneity determination was based on studying the proliferative capacity, viability, expression of phenotypic markers, and relative length of telomere chromosomes. The study included 14 teeth (6 molars and 8 premolars) from six different individuals ages 12 to 16. We did not observe any significant intra-individual variability in DPSC size, proliferation rate, viability, or relative telomere length change within lineages isolated from different teeth but the same donor. The minor non-significant variances in phenotype were probably mainly because DPSC cell lines comprised heterogeneous groups of undifferentiated cells independent of the donor. The other variances were seen in DPSC lineages isolated from the same donor, but the teeth were in different stages of root development. We also did not observe any changes in the ability of cells to differentiate into mature cell lines-chondrocytes, osteocytes, and adipocytes. This study is the first to analyze the heterogeneity of DPSC dependent on a donor.
- MeSH
- Cell Differentiation physiology MeSH
- Cell Line MeSH
- Cell Lineage physiology MeSH
- Chondrocytes physiology MeSH
- Tissue Donors MeSH
- Biological Variation, Individual MeSH
- Stem Cells physiology MeSH
- Humans MeSH
- Adolescent MeSH
- Osteocytes physiology MeSH
- Cell Proliferation physiology MeSH
- Adipocytes physiology MeSH
- Dental Pulp physiology MeSH
- Check Tag
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
INTRODUCTION: The study of single nucleotide polymorphisms (SNPs) of the leptin receptor gene (LEPR) based on next generation genomic sequencing (NGS) data is becoming an increasingly important aspect of diagnosis, treatment and prevention of both metabolically healthy (MHO) and metabolically unhealthy obesity (MUO) phenotypes. MATERIAL AND METHODS: 35 obese children 6-18 years old were examined by the NGS method with bioinformatic analysis. The main group (n = 18) was formed by children with MUO, according to the recommendations of the expert group of the National Heart, Lung, and Blood Institute. The control group (n = 17) was represented by children with MHO. Statistical methods were used: analysis of variance, Wald's sequential analysis, Spearman's correlation analysis, analysis of nominal data and multiple discriminant analysis. RESULTS: 10 types of non-synonymous SNPs (rs3790435, rs1137100, rs2186248, rs70940803, rs79639154, rs1359482195, rs1137101, rs1805094, rs13306520, rs13306522) of the LEPR gene in obese children have been identified. Multiple discriminant analysis demonstrated that the following LEPR SNPs are of greatest importance in the development of MUO: rs3790435, rs13306522, rs13306520. Analysis of nominal data revealed significant differences in the groups for Copy number variation (CNV) rs3790435 of the LEPR gene. Wald's analysis allowed us to identify 6 important predictors of MUO (І ≥ 0.5): 2 CNV rs3790435 (Relative Risk, RR = 2, Prognostic coefficient, PC = +2.76); male gender of the child (RR = 1.3, PC = +1.35); rs3790435 (RR = 1.9, PC = +2.76); hyperleptinemia more than 40.56 ng/ml (RR = 2, PC = +3); CNV rs1359482195 ≥ 3 (RR = 1.9, PC = +5.8); SNP of the LEPR gene ≥4 (RR = 3.8, PC = +5.8). CONCLUSION: Children with the genotype rs3790435 gene LEPR had signs of MUO more often.
- MeSH
- Child MeSH
- Genotype MeSH
- Polymorphism, Single Nucleotide MeSH
- Leptin genetics MeSH
- Receptors, Leptin * genetics MeSH
- Humans MeSH
- Adolescent MeSH
- Pediatric Obesity * genetics MeSH
- DNA Copy Number Variations MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
The classification of bioimages plays an important role in several biological studies, such as subcellular localisation, phenotype identification and other types of histopathological examinations. The objective of the present study was to develop a computer-aided bioimage classification method for the classification of bioimages across nine diverse benchmark datasets. A novel algorithm was developed, which systematically fused the features extracted from nine different convolution neural network architectures. A systematic fusion of features boosts the performance of a classifier but at the cost of the high dimensionality of the fused feature set. Therefore, non-discriminatory and redundant features need to be removed from a high-dimensional fused feature set to improve the classification performance and reduce the time complexity. To achieve this aim, a method based on analysis of variance and evolutionary feature selection was developed to select an optimal set of discriminatory features from the fused feature set. The proposed method was evaluated on nine different benchmark datasets. The experimental results showed that the proposed method achieved superior performance, with a significant reduction in the dimensionality of the fused feature set for most bioimage datasets. The performance of the proposed feature selection method was better than that of some of the most recent and classical methods used for feature selection. Thus, the proposed method was desirable because of its superior performance and high compression ratio, which significantly reduced the computational complexity.
- MeSH
- Algorithms * MeSH
- Neural Networks, Computer * MeSH
- Publication type
- Journal Article MeSH
BACKGROUND: Nowadays, there is a lack of consensus and high controversy about the most effective range of motion (ROM) to minimize the risk of injury and maximize the resistance training adaptations. OBJECTIVE: To conduct a systematic review and meta-analysis of the scientific evidence examining the effects of full and partial ROM resistance training interventions on neuromuscular, functional, and structural adaptations. METHODS: The original protocol (CRD42020160976) was prospectively registered in the PROSPERO database. Medline, Scopus, and Web of Science databases were searched to identify relevant articles from the earliest record up to and including March 2021. The RoB 2 and GRADE tools were used to judge the level of bias and quality of evidence. Meta-analyses were performed using robust variance estimation with small-sample corrections. RESULTS: Sixteen studies were finally included in the systematic review and meta-analyses. Full ROM training produced significantly greater adaptations than partial ROM on muscle strength (ES = 0.56, p = 0.004) and lower-limb hypertrophy (ES = 0.88, p = 0.027). Furthermore, although not statistically significant, changes in functional performance were maximized by the full ROM training (ES = 0.44, p = 0.186). Finally, no significant superiority of either ROM was found to produce changes in muscle thickness, pennation angle, and fascicle length (ES = 0.28, p = 0.226). CONCLUSION: Full ROM resistance training is more effective than partial ROM to maximize muscle strength and lower-limb muscle hypertrophy. Likewise, functional performance appears to be favored by the use of full ROM exercises. On the contrary, there are no large differences between the full and partial ROM interventions to generate changes in muscle architecture.
- MeSH
- Adaptation, Physiological MeSH
- Humans MeSH
- Resistance Training methods MeSH
- Range of Motion, Articular physiology MeSH
- Muscle Strength physiology MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Meta-Analysis MeSH
- Systematic Review MeSH
Keratoconus is characterised by reduced rigidity of the cornea with distortion and focal thinning that causes blurred vision, however, the pathogenetic mechanisms are unknown. It can lead to severe visual morbidity in children and young adults and is a common indication for corneal transplantation worldwide. Here we report the first large scale genome-wide association study of keratoconus including 4,669 cases and 116,547 controls. We have identified significant association with 36 genomic loci that, for the first time, implicate both dysregulation of corneal collagen matrix integrity and cell differentiation pathways as primary disease-causing mechanisms. The results also suggest pleiotropy, with some disease mechanisms shared with other corneal diseases, such as Fuchs endothelial corneal dystrophy. The common variants associated with keratoconus explain 12.5% of the genetic variance, which shows potential for the future development of a diagnostic test to detect susceptibility to disease.
- MeSH
- Cell Differentiation genetics MeSH
- Genome-Wide Association Study MeSH
- Extracellular Matrix metabolism pathology MeSH
- Phenotype MeSH
- Genetic Predisposition to Disease MeSH
- Genetic Loci * MeSH
- Risk Assessment MeSH
- Polymorphism, Single Nucleotide * MeSH
- Keratoconus diagnosis ethnology genetics metabolism MeSH
- Collagen metabolism MeSH
- Humans MeSH
- Risk Factors MeSH
- Case-Control Studies MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Meta-Analysis MeSH
- Multicenter Study MeSH
- Research Support, Non-U.S. Gov't MeSH
- Research Support, N.I.H., Extramural MeSH
- Geographicals
- Australia MeSH
- Europe MeSH