The chronotype of elite athletes

The aims of this study were (i) to compare the chronotype distribution of elite athletes to a young adult population and (ii) to determine if there was a tendency for athletes to select and/or participate in sports which suited their chronotype. A total of 114 elite athletes from five sports (cricket, cycling, hockey, soccer and triathlon) participated in this study. The participants’ chronotype, sleepiness, sleep satisfaction and sleep quality were determined using the Horne and Östberg Morningness and Eveningness questionnaire, the Epworth Sleepiness Scale and questions concerning their sleep satisfaction and quality. All questionnaires were administered during a typical training phase that was not in the lead up to competition and/or post competition. No differences between chronotype group for sleepiness, sleep satisfaction or sleep quality were found. There was a significantly higher proportion of triathletes that were morning and intermediate types compared to the control group χ2 (2) = 7.5, p = 0.02. A significant relationship between sport and chronotype group (χ2(4)=15.9, p = 0.04) was observed, with a higher frequency of morning types involved in sports that required morning training. There was a clear indication that athletes tended to select and pursue sports that suited their chronotype. This was evident by the amount of morning types involved in morning sports. Given that athletes are more likely to pursue and excel in sports which suit their chronotype, it is recommended that coaches consider the athlete’s chronotype during selection processes or if possible design and implement changes to training schedules to either suit the athletes’ chronotype or the timing of an upcoming competition

Production and destination of sewage sludge in the piemonte region (Italy): The results of a survey for a future sustainable management

The management of sewage sludge originated from municipal wastewater treatment plants (WWTPs) is an urgent issue. In 2019, the local authority of the Piemonte region started a survey with the aim of collecting recent data concerning wastewater and sludge management in the WWTPs located in its own territory. The survey’s results revealed that 60% of the sludge (51,000 t, as dry substance, d.s.) produced by the local WWTPs was recovered or disposed of outside of the region, and a similar amount of sludge was recovered in agriculture directly or after composting. The increase in the costs to accommodate sewage sludge in recovery or disposal plants, followed to a recent Italian Sentence (27958/2017), and the more and more stringent requirements fixed by lots of European countries for the application of sludge in agriculture, are pushing the Piemonte region authority to re-organize its own network for sludge management, with solutions based onto proximity and diversification. Whether the provisions of the current German legislation are applied in the future also in Italy, approx. 90% of sewage sludge produced into the Piemonte region should be incinerated, with a subsequent step of phosphorous recovery. The new regional plan, according to the Regional Address Deed, should consider a diversification of sludge treatment and recovery practices. On this basis, a need for new plants for around 40,000 t d.s./y could be planned

Sex and Sleep: Perceptions of Sex as a Sleep Promoting Behavior in the General Adult Population

Objective: The main aim of this study was to explore the perceived relationship between sexual activities, sleep quality, and sleep latency in the general adult population and identify whether any gender differences exist.Participants/methods: We used a cross-sectional survey to examine the perceived relationship between sexual activity and subsequent sleep in the general adult population. Seven-hundred and seventy-eight participants (442 females, 336 males; mean age 34.5 ± 11.4 years) volunteered to complete an online anonymous survey at their convenience.Statistical Analyses: Chi square analyses were conducted to examine if there were any gender differences between sexual activities [i.e., masturbation (self-stimulation), sex with a partner without orgasm, and sex with a partner with orgasm] and self-reported sleep.Results: There were no gender differences in sleep (quality and onset) between males and females when reporting sex with a partner [χ(2)2 = 2.20, p = 0.332; χ(2)2=5.73, p = 0.057] or masturbation (self-stimulation) [χ(2)2 = 1.34, p = 0.513; χ(2)2 = 0.89, p = 0.640] involved an orgasm.Conclusions: Orgasms with a partner were associated with the perception of favorable sleep outcomes, however, orgasms achieved through masturbation (self-stimulation) were associated with the perception of better sleep quality and latency. These findings indicate that the public perceive sexual activity with orgasm precedes improved sleep outcomes. Promoting safe sexual activity before bed may offer a novel behavioral strategy for promoting sleep

Can sleep be used as an indicator of overreaching and overtraining in athletes?

Heales, LJ ORCiD: 0000-0002-4510-3324; Lastella, AM ORCiD: 0000-0003-1793-3811; Sargent, C ORCiD: 0000-0001-5340-4701; Vincent, GE ORCiD: 0000-0002-7036-7823To achieve optimal athletic performance and competition readiness, it is crucial to balance the highest appropriate training stimulus with sufficient recovery. Excessive and/or progressive increases in training load are integral to improving athletic performance (Halson, 2014). However, increased training loads and/or inadequate recovery can result in maladaptation to training, and if continued, can lead to the development of overreaching/overtraining (Meeusen et al., 2013; Cadegiani and Kater, 2017). In terms of recovery, sleep is an essential component of an athlete’s recuperation due to its physiological and psychological restorative effects (Dinges et al., 1997; Pejovic et al., 2013). Sleep quantity and quality declines following augmented increases (+30%) in training load (Hausswirth et al., 2014), and poor sleep is a common complaint among overreached and/or overtrained athletes (Wall et al., 2003). Regardless of whether reduced sleep is a cause or effect of overreaching and/or overtraining, it is possible that measures of sleep could serve as an indicator of the presence of overreaching and/or overtraining. This opinion article will examine the current research underpinning the relationship between insufficient sleep and the development of overreaching/overtraining, describe the implications for practitioners (e.g., sport and exercise scientists, coaches), and identify areas for future research

Sleep characteristics and mood of professional esports athletes: A multi-national study

© 2021 by the authors. Licensee MDPI, Basel, Switzerland. Esports is becoming increasingly professionalized, yet research on performance management is remarkably lacking. The present study aimed to investigate the sleep and mood of professional esports athletes. Participants were 17 professional esports athletes from South Korea (N = 8), Australia (N = 4), and the United States (N = 5) who played first person shooter games (mean age 20 ± 3.5 years, 100% male). All participants wore a wrist-activity monitor for 7–14 days and completed subjective sleep and mood questionnaires. Participants had a median total sleep time of 6.8 h and a sleep efficiency of 86.4% per night. All participants had significantly delayed sleep patterns (median sleep onset 3:43 a.m. and wake time 11:24 a.m.). Participants had a median sleep onset latency of 20.4 min and prolonged wake after sleep onset of 47.9 min. Korean players had significantly higher depression scores compared to the other groups (p \u3c 0.01) and trained longer per day than the Australian or United States teams (13.4 vs. 4.8 vs. 6.1 h, respectively). Depression scores were strongly correlated with number of awakenings, wake after sleep onset, and daily training time (p \u3c 0.05). As the first pilot sleep study in the esports field, this study indicates that esports athletes show delayed sleep patterns and have prolonged wake after sleep onset. These sleep patterns may be associated with mood (depression) and training time. Sleep interventions designed specifically for esports athletes appear warranted

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

BACKGROUND PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like fibroadipose overgrowth (FAO), megalencephaly-capillary malformation (MCAP) syndrome, congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome and Hemihyperplasia Multiple Lipomatosis (HHML). Heterozygous postzygotic PIK3CA mutations are frequently identified in these syndromes, while timing and tissue specificity of the mutational event are likely responsible for the extreme phenotypic variability observed. METHODS: We carried out a combination of Sanger sequencing and targeted deep sequencing of genes involved in the PI3K/AKT/mTOR pathway in three patients (1 MCAP and 2 FAO) to identify causative mutations, and performed immunoblot analyses to assay the phosphorylation status of AKT and P70S6K in affected dermal fibroblasts. In addition, we evaluated their ability to grow in the absence of serum and their response to the PI3K inhibitors wortmannin and LY294002 in vitro. RESULTS AND CONCLUSION: Our data indicate that patients' cells showed constitutive activation of the PI3K/Akt pathway. Of note, PI3K pharmacological blockade resulted in a significant reduction of the proliferation rate in culture, suggesting that inhibition of PI3K might prove beneficial in future therapies for PROS patients

Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics

Background: The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics. Methods: A cross-sectional study was conducted of a cohort of 206 patients studied in the HHT Unit of Hospital de Sierrallana, a reference centre for Spanish patients with HHT. Odds ratios for several symptoms or characteristics of HHT and ocular lesions were estimated using logistic regression adjusting for age and sex. Results: The ocular involvement was associated with being a carrier of a mutation for the ENG gene, that is, suffering from a type 1 HHT involvement (OR = 2.09; 95% CI [1.17–3.72]). p = 0.012). In contrast, patients with ocular lesions have less frequently mutated ACVRL1/ALK1 gene (OR = 0.52; 95% CI [0.30–3.88], p = 0.022). Conclusions: In conclusion, half of the patients with HHT in our study have ocular involvement. These eye lesions are associated with mutations in the ENG gene and ACVRL1/ALK1 gene. Thus, the ENG gene increases the risk of ocular lesions, while being a carrier of the mutated ACVRL1/ALK1 gene decreases said risk

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts

Background: Genetic screening of breast cancer patients and their families have identified a number of variants of unknown clinical significance in the breast cancer susceptibility genes, BRCA1 and BRCA2. Evaluation of such unclassified variants may be assisted by web-based bioinformatic prediction tools, although accurate prediction of aberrant splicing by unclassified variants affecting exonic splice enhancers (ESEs) remains a challenge

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America

Background: Genetic counselling and testing for Lynch syndrome (LS) have recently been introduced in several Latin America countries. We aimed to characterize the clinical, molecular and mismatch repair (MMR) variants spectrum of patients with suspected LS in Latin America. Methods: Eleven LS hereditary cancer registries and 34 published LS databases were used to identify unrelated families that fulfilled the Amsterdam II (AMSII) criteria and/or the Bethesda guidelines or suggestive of a dominant colorectal (CRC) inheritance syndrome. Results: We performed a thorough investigation of 15 countries and identified 6 countries where germline genetic testing for LS is available and 3 countries where tumor testing is used in the LS diagnosis. The spectrum of pathogenic MMR variants included MLH1 up to 54%, MSH2 up to 43%, MSH6 up to 10%, PMS2 up to 3% and EPCAM up to 0.8%. The Latin America MMR spectrum is broad with a total of 220 different variants which 80% were private and 20% were recurrent. Frequent regions included exons 11 of MLH1 (15%), exon 3 and 7 of MSH2 (17 and 15%, respectively), exon 4 of MSH6 (65%), exons 11 and 13 of PMS2 (31% and 23%, respectively). Sixteen international founder variants in MLH1, MSH2 and MSH6 were identified and 41 (19%) variants have not previously been reported, thus representing novel genetic variants in the MMR genes. The AMSII criteria was the most used clinical criteria to identify pathogenic MMR carriers although microsatellite instability, immunohistochemistry and family history are still the primary methods in several countries where no genetic testing for LS is available yet. Conclusion: The Latin America LS pathogenic MMR variants spectrum included new variants, frequently altered genetic regions and potential founder effects, emphasizing the relevance implementing Lynch syndrome genetic testing and counseling in all of Latin America countries.Radium Hospital Foundation (Oslo, Norway) in the design of the study and collection, analysis, and interpretation of data and in writing the manuscript, Helse Sør-Øst (Norway) in the design of the study and collection, analysis, and interpretation of data and in writing the manuscript, the French Association Recherche contre le Cancer (ARC) in the analysis, and interpretation of data, the Groupement des Entreprises Françaises dans la Lutte contre le Cancer (Gefluc) in the analysis, and interpretation of data, the Association Nationale de la Recherche et de la Technologie (ANRT, CIFRE PhD fellowship to H.T.) in the analysis, and interpretation of data and by the OpenHealth Institute in the analysis, and interpretation of data. Barretos Cancer Hospital received financial support by FINEP-CT-INFRA (02/2010)info:eu-repo/semantics/publishedVersio

The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population

<p>Abstract</p> <p>Background</p> <p>Mutations in the mismatch repair genes <it>hMLH1 </it>and <it>hMSH2 </it>predispose to hereditary non-polyposis colorectal cancer (HNPCC). Genetic screening of more than 350 Danish patients with colorectal cancer (CRC) has led to the identification of several new genetic variants (e.g. missense, silent and non-coding) in <it>hMLH1 </it>and <it>hMSH2</it>. The aim of the present study was to investigate the frequency of these variants in <it>hMLH1 </it>and <it>hMSH2 </it>in Danish patients with sporadic colorectal cancer and in the healthy background population. The purpose was to reveal if any of the common variants lead to increased susceptibility to colorectal cancer.</p> <p>Methods</p> <p>Associations between genetic variants in <it>hMLH1 </it>and <it>hMSH2 </it>and sporadic colorectal cancer were evaluated using a case-cohort design. The genotyping was performed on DNA isolated from blood from the 380 cases with sporadic colorectal cancer and a sub-cohort of 770 individuals. The DNA samples were analyzed using Single Base Extension (SBE) Tag-arrays. A Bonferroni corrected Fisher exact test was used to test for association between the genotypes of each variant and colorectal cancer. Linkage disequilibrium (LD) was investigated using HaploView (v3.31).</p> <p>Results</p> <p>Heterozygous and homozygous changes were detected in 13 of 35 analyzed variants. Two variants showed a borderline association with colorectal cancer, whereas the remaining variants demonstrated no association. Furthermore, the genomic regions covering <it>hMLH1 </it>and <it>hMSH2 </it>displayed high linkage disequilibrium in the Danish population. Twenty-two variants were neither detected in the cases with sporadic colorectal cancer nor in the sub-cohort. Some of these rare variants have been classified either as pathogenic mutations or as neutral variants in other populations and some are unclassified Danish variants.</p> <p>Conclusion</p> <p>None of the variants in <it>hMLH1 </it>and <it>hMSH2 </it>analyzed in the present study were highly associated with colorectal cancer in the Danish population. High linkage disequilibrium in the genomic regions covering <it>hMLH1 </it>and <it>hMSH2</it>, indicate that common genetic variants in the two genes in general are not involved in the development of sporadic colorectal cancer. Nevertheless, some of the rare unclassified variants in <it>hMLH1 </it>and <it>hMSH2 </it>might be involved in the development of colorectal cancer in the families where they were originally identified.</p