It has been well established that the human gut microbiota plays a pivotal role in humans' health, since it is involved in nutrients' uptake, vitamins' synthesis, energy harvest, inflammatory modulation, and host immune responses. Moreover, gut microbiota alterations have been associated to an increasing number of diseases and its composition can be affected by several factors, including physical exercise. In particular, it has been reported that intense physical activity can induce metabolic changes which translate in alterations of specific biomarkers that can lead to the onset of infections, inflammation and hepatic or kidney disorders.
View Article and Find Full Text PDFPhysical activity highly impacts the neuroendocrine system and hormonal secretion. Numerous variables, both those related to the individual, including genetics, age, sex, biological rhythms, nutritional status, level of training, intake of drugs or supplements, and previous or current pathologies, and those related to the physical activity in terms of type, intensity, and duration of exercise, or environmental conditions can shape the hormonal response to physical exercise. The aim of this review is to provide an overview of the effects of physical exercise on hormonal levels in the human body, focusing on changes in concentrations of hormones such as cortisol, testosterone, and insulin in response to different types and intensities of physical activity.
View Article and Find Full Text PDFThe hemostatic system is characterized by a delicate balance between pro- and anticoagulant forces, and the smallest alteration can cause serious events such as hemorrhages or thrombosis. Although exercise has been shown to play a protective role in athletes, several factors may increase the risk of developing venous thromboembolism (VTE), including hemoconcentration induced by exertion, immobilization following sports injuries, frequent long-distance flights, dehydration, and the use of oral contraceptives in female athletes. Biomarkers such as D-dimer, Factor VIII, thrombin generation, inflammatory cytokines, and leukocyte count are involved in the diagnosis of deep vein thrombosis (DVT), although their interpretation is complex and may indicate the presence of other conditions such as infections, inflammation, and heart disease.
View Article and Find Full Text PDFNeurodevelopmental disorders are a group of complex multifactorial disorders characterized by cognitive impairment, communication deficits, abnormal behaviour, and/or motor skills resulting from abnormal neural development. Copy number variants (CNVs) are genetic alterations often associated with neurodevelopmental disorders. We evaluated the diagnostic efficacy of the array-comparative genomic hybridization (a-CGH) method and its relevance as a routine diagnostic test in patients with neurodevelopmental disorders for the identification of the molecular alterations underlying or contributing to the clinical manifestations.
View Article and Find Full Text PDFAutism spectrum disorder is a neurodevelopmental disorder characterized by social interactions and communication skills impairments that include intellectual disabilities, communication delays and self-injurious behaviors; often are present systemic comorbidities such as gastrointestinal disorders, obesity and cardiovascular disease. Moreover, in recent years has emerged a link between alterations in the intestinal microbiota and neurobehavioral symptoms in children with autism spectrum disorder. Recently, physical activity and exercise interventions are known to be beneficial for improving communication and social interaction and the composition of microbiota.
View Article and Find Full Text PDFIntense physical activity can induce metabolic changes that modify specific biochemical biomarkers. In this scenario, the purpose of our study was to evaluate how intense physical activity can affect oxidative metabolism. Following this, fifteen professional basketball players and fifteen sedentary controls were recruited and subjected to two samplings of serum and urine in the pre-season (September) and two months after the start of the competitive season (November).
View Article and Find Full Text PDFInvasive species can cause severe economic damages, ecosystem alterations, and can even threat human health. In the global warming scenario, which can act as a driving force for the expansion of thermophilic species, we investigated for the first time the economic damage caused by the invasive bearded fireworm, Hermodice carunculata, to artisanal longline fishery in the Mediterranean Sea. We focused on bottom longline fishery targeting the highly prized white seabream Diplodus sargus, investigating catch composition of the fishing gear and Catch Per Unit Effort (CPUE) of species caught, with particular emphasis on the economic damage caused by the bearded fireworm, H.
View Article and Find Full Text PDFExpanded carrier screening (ECS) means a comprehensive genetic analysis to evaluate an individual's carrier status. ECS is becoming more frequently used, thanks to the availability of techniques such as next generation sequencing (NGS) and array comparative genomic hybridization (aCGH), allowing for extensive genome-scale analyses. Here, we report the case of a couple who underwent ECS for a case of autism spectrum disorder in the male partner family.
View Article and Find Full Text PDFBackground: Childhood obesity (CO) is a serious medical condition affecting approximately 120 million children and adolescents worldwide. It is characterized by a persistent inflammatory state with inflammatory markers overexpressed, which in turn leads to a higher cardiovascular risk. It is well known that physical exercise reduces the inflammatory state in obese children.
View Article and Find Full Text PDFAtrial fibrillation (AF) is the most common cardiac arrhythmia and its prevalence is continuously increasing in the United States, leading to a progressive rise in the number of disease-related emergency department (ED) visits and hospitalizations. Although optimal long-term outpatient management for AF is well defined, the guidelines for optimal ED management of acute AF episodes is less clear. Studies have demonstrated that discharging patients with AF from the ED after acute stabilization is both safe and cost effective; however, the majority of these patients in the United States and in our institution are admitted to the hospital.
View Article and Find Full Text PDFThe D-aspartate oxidase (DDO) gene encodes the enzyme responsible for the catabolism of D-aspartate, an atypical amino acid enriched in the mammalian brain and acting as an endogenous NMDA receptor agonist. Considering the key role of NMDA receptors in neurodevelopmental disorders, recent findings suggest a link between D-aspartate dysmetabolism and schizophrenia. To clarify the role of D-aspartate on brain development and functioning, we used a mouse model with constitutive Ddo overexpression and D-aspartate depletion.
View Article and Find Full Text PDFPsychomotor developmental delay is a disorder with a prevalence of 12-18% in the pediatric population, characterized by the non-acquisition of motor, cognitive and communication skills during the child's development, in relation to chronological age. An appropriate neuropsychomotor evaluation and the use of new technologies, such as Array Comparative Genomic Hybridization (a-CGH) and Next-generation sequencing (NGS), can contribute to early diagnosis and improving the quality of life. In this case, we have analyzed a boy aged 2 years and 8 months, with a diagnosis of psychomotor developmental delay, mainly in the area of communication and language.
View Article and Find Full Text PDF: The development and standardization of genome-wide technologies able to carry out high-resolution, genomic analyses in a cost- and time-affordable way is increasing our knowledge regarding the molecular bases of complex diseases like autism spectrum disorder (ASD). ASD is a group of heterogeneous diseases with multifactorial origins. Genetic factors seem to be involved, albeit they remain still largely unknown.
View Article and Find Full Text PDFInt J Environ Res Public Health
January 2022
Physical activity, combined with adequate nutrition, is considered a protective factor against cardiovascular disease, musculoskeletal disorders, and intestinal dysbiosis. Achieving optimal performance requires a significantly high energy expenditure, which must be correctly supplied to avoid the occurrence of diseases such as muscle injuries, oxidative stress, and heart pathologies, and a decrease in physical performance during competition. Moreover, in sports activities, the replenishment of water, vitamins, and minerals consumed during training is essential for safeguarding athletes' health.
View Article and Find Full Text PDFLaboratory medicine, along with genetic investigations in sports medicine, is taking on an increasingly important role in monitoring athletes' health conditions. Acute or intense exercise can result in metabolic imbalances, muscle injuries or reveal cardiovascular disorders. This study aimed to monitor the health status of a basketball player with an integrated approach, including biochemical and genetic investigations and advanced imaging techniques, to shed light on the causes of recurrent syncope he experienced during exercise.
View Article and Find Full Text PDFChoroideremia (CHM) is a X-linked recessive chorioretinal dystrophy due to deficiency of the gene product, i.e., Rab escort protein isoform 1 (REP1).
View Article and Find Full Text PDFMitochondrial Cardiomyopathy (MCM) is a common manifestation of multi-organ Mitochondrial Diseases (MDs), occasionally present in non-syndromic cases. Diagnosis of MCM is complex because of wide clinical and genetic heterogeneity and requires medical, laboratory, and neuroimaging investigations. Currently, the molecular screening for MCM is fundamental part of MDs management and allows achieving the definitive diagnosis.
View Article and Find Full Text PDFThe partner and localizer of () is a major binding partner that participates in homologous recombination repair in response to DNA double-strand breaks. Germline alterations of the gene have recently been associated with a high risk of developing breast cancer. We investigated a 37-year-old Caucasian woman with breast cancer and family history of breast cancer using targeted next generation sequencing.
View Article and Find Full Text PDFInt J Environ Res Public Health
January 2021
Coronaviruses (CoVs) represent a large family of RNA viruses that can infect different living species, posing a global threat to human health. CoVs can evade the immune response, replicate within the host, and cause a rapid immune compromise culminating in severe acute respiratory syndrome. In humans, the immune system functions are influenced by physical activity, nutrition, and the absence of respiratory or cardiovascular diseases.
View Article and Find Full Text PDFModerate exercise combined with proper nutrition are considered protective factors against cardiovascular disease and musculoskeletal disorders. However, physical activity is known not only to have positive effects. In fact, the achievement of a good performance requires a very high oxygen consumption, which leads to the formation of oxygen free radicals, responsible for premature cell aging and diseases such as heart failure and muscle injury.
View Article and Find Full Text PDFSudden cardiac death (SCD) is a devastating event which can also affect people in apparent good health, such as young athletes. It is known that intense and continuous exercise along with a genetic background that predisposes a person to the risk of fatal arrhythmias is a trigger for SCD. Therefore, knowledge of the athlete's genetic conditions underlying the onset of SCD must be extended, in order to develop new effective prevention and/or therapeutic strategies.
View Article and Find Full Text PDFOrganophosphates are a large class of chemicals with anticholinesterase action insecticides. Dimethoate belongs to the class of organophosphates and it is used for agriculture purpose. Its main toxicological role in animals and humans is the inhibition of the activity of acetylcholinesterase.
View Article and Find Full Text PDFInt J Environ Res Public Health
August 2020
Laboratory medicine in sports medicine is taking on an ever-greater role in the assessment and monitoring of an athlete's health condition. The acute or intense exercise practiced by elite athletes can lead to the appearance of infections, inflammations, muscle injuries or cardiovascular disorders, whose diagnosis is not always rapid and efficient, as there is no continuous monitoring of the athlete. The absence of such monitoring can have serious consequences in terms of recovery of the professional athlete.
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