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Background: The neuroendocrine system has important implications for affiliation behavior among humans and can be used to assess the correlation between social relationships, stress, and health. This can be influenced by social closeness; this aspect is the closeness towards another individual or a group of individuals such as a sports team. Sports performance anxiety is considered an unpleasant emotional reaction composed of physiological, cognitive, affective, and behavioral components. This motivates us to learn about the process that can influence the outcome of competition. Hormones and genetics would seem to influence outcome and performance. In this regard, many studies have focused on the exercise response as a function of ovarian hormones and it has been observed that progesterone is a hormone that plays a key role in reducing anxiety, and thus stress, in humans and other animals. On the other hand, high cortisol concentrations are known to contribute to increased anxiety levels. However, the salivary alpha-amylase (sAA) enzyme has been suggested as marker of acute stress than cortisol. Genetics also seem to influence anxiety and stress management as in the case of brain-derived neurotrophic factor (BDNF) and striatal dopamine transporter (DAT). Therefore, the study aims to investigate social closeness, as a measure of sports team cohesion that can influence athletes' performance results, and its ability to influence the secretion of hormones, such as progesterone and cortisol, that affect the management of sports anxiety while also taking into account genetic background during a volleyball match. Methods: Twenty-six female volleyball players who volunteered participated in this study (mean ± SD: age, 12.07 ± 0.7 years), and played in the final of the provincial volleyball championship in Palermo. All girls were during the ovarian cycle, in detail between the follicular and early ovulatory phases. Results: The results showed a significant decrease in salivary cortisol only in the winning group (p < 0.039). In fact, whilst in the latter the pre-match level was 7.7 ng/ml and then decreased to 4.5 ng/ml after the match, in the losers group change was not statistically significant (7.8 ng/ml vs 6.6 ng/ml pre- and post-match). As to the sAA concentration, the winning team showed a statistically significant variation between pre- and post-match than the losers (166.01 ± 250 U/ml vs 291.59 ± 241 U/ml) (p = 0.01). Conclusion: Analyzing the results of the SAS-2 psychological test it is highlighted that, on average, the loser group was more anxious than the winning group, and this contributed to the final result. In conclusion, there is strong evidence supporting the state of the art that many factors can affect performance anxiety and thus the performance itself.
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Ansiedad de Desempeño , Voleibol , Humanos , Adolescente , Femenino , Niño , Voleibol/fisiología , Hidrocortisona , Progesterona , SalivaRESUMEN
BACKGROUND: The timing of the effects of botulinum toxin A on spastic muscles is not yet fully clarified. The goal of this study was to follow the temporal changes of surface electromyographic activity of lower limb muscles during walking, after a therapeutic dose of botulinum toxin A injected into the calf muscles of children with spastic cerebral palsy. METHODS: A group of children with spastic equinus foot was administered botulinum toxin A into the gastrocnemius medialis and lateralis muscles. Surface electromyographic activity of the tibialis anterior, gastrocnemius medialis, rectus femoris and medial hamstrings, was recorded before botulinum toxin A injections and after 4, 8, and 16 weeks. Children walked on ground and on a treadmill at an incline of 0% and 12%. The area of electromyographic activity and the index of muscle co-contraction were calculated for specific segments of gait cycle. FINDINGS: Botulinum toxin A did not modify the speed of gait on ground. ANOVA showed significant differences in electromyography during the stance phase segments with a maximum decrease between 4 and 8 weeks' post botulinum toxin A and a full recovery at 16 weeks. A significant co-contraction of rectus femoris/gastrocnemius medialis, between 0 and 20% and 35-50% of the gait cycle, was observed from the 4th to the 8th week post- botulinum toxin A for both treadmill settings. INTERPRETATION: The temporal identification of deterioration/recovery of electromyographic activity as well as of muscle co-contractions, could be key elements in a rehabilitation program planning combined with botulinum toxin A.
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Toxinas Botulínicas Tipo A , Parálisis Cerebral , Niño , Humanos , Toxinas Botulínicas Tipo A/uso terapéutico , Parálisis Cerebral/tratamiento farmacológico , Electromiografía , Marcha/fisiología , Espasticidad Muscular/tratamiento farmacológico , Músculo Esquelético , CaminataRESUMEN
We report the case of a boy (aged 3 years and 7 months) with severe growth failure (length: -9.53 SDS; weight: -9.36 SDS), microcephaly, intellectual disability, distinctive craniofacial features, multiple skeletal anomalies, micropenis, cryptorchidism, generalized hypotonia, and tendon retraction. Abdominal US showed bilateral increased echogenicity of the kidneys, with poor corticomedullary differentiation, and a slightly enlarged liver with diffuse irregular echotexture. Initial MRI of the brain, performed at presentation, showed areas of gliosis with encephalomalacia and diffused hypo/delayed myelination, and a thinned appearance of the middle and anterior cerebral arteries. Genetic analysis evidenced a novel homozygous pathogenic variant of the pericentrin (PCNT) gene. PCNT is a structural protein expressed in the centrosome that plays a role in anchoring of protein complexes, regulation of the mitotic cycle, and cell proliferation. Loss-of-function variants of this gene are responsible for microcephalic osteodysplastic primordial dwarfism type II (MOPDII), a rare inherited autosomal recessive disorder. The boy died at 8 years of age as a result of an intracranial hemorrhage due to a cerebral aneurism associated with the Moyamoya malformation. In confirmation of previously published results, intracranial anomalies and kidney findings were evidenced very early in life. For this reason, we suggest including MRI of the brain with angiography as soon as possible after diagnosis in follow-up of MODPII, in order to identify and prevent complications related to vascular anomalies and multiorgan failure.
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Aneurisma Intracraneal , Enfermedades Renales , Microcefalia , Masculino , Humanos , Niño , Microcefalia/complicaciones , Microcefalia/genética , Microcefalia/diagnóstico , Aneurisma Intracraneal/complicaciones , Riñón , MutaciónRESUMEN
BACKGROUND: Cerebrotendinous xanthomatosis is a rare autosomal-recessive lipid storage disorder causing an elevation in cholestanol and cholesterol levels and their deposition in the central nervous system and tendons with consequent posture and gait disturbances. METHODS: This report shows the case of a 36-year-old male affected by Cerebrotendinous xanthomatosis with static and dynamic instability. We aimed to provide an instrumented quantification of quiet upright standing using a piezoelectric force platform measuring the variations of center of pressure with the foot position 10 cm and 20 cm apart or extra-rotated with an opening angle of 30°, with eyes open or closed. The area of center of pressure and the length of its trajectory in the anterior-posterior and medial-lateral directions were computed. The temporal variability of center of pressure was evaluated by means of the Root Mean Square. FINDINGS: In comparison with a control group, the area, the trajectory length of center of pressure in anterior-posterior and medial-lateral directions and the temporal variability increased in all static conditions. Intra-patient comparison showed that foot position 10 cm apart was the position that most influenced stability causing a marked worsening of area and trajectory length of center of pressure in both anterior-posterior and medial-lateral directions, particularly for the eyes closed condition. INTERPRETATION: We found a large static instability due to internal neural and biomechanical constraints causing an insufficiency of ankle strategy. A physical therapy program based on instrumented proprioceptive exercises is to be implemented to teach the use of a hip strategy.
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Xantomatosis Cerebrotendinosa , Masculino , Humanos , Adulto , Tobillo , Tendones , Pie/fisiología , Articulación del TobilloRESUMEN
Severe acute respiratory coronavirus 2 (SARS-CoV-2) interacts with the host cells through its spike protein by binding to the membrane enzyme angiotensin-converting enzyme 2 (ACE2) and it can have a direct effect on endocrine function as ACE2 is expressed in many glands and organs with endocrine function. Furthermore, several endocrine conditions have features that might increase the risk of SARS-CoV-2 infection and the severity and course of the infection, as obesity for the underlying chronic increased inflammatory status and metabolic derangement, and for the possible changes in thyroid function. Vitamin D has immunomodulatory effects, and its deficiency has negative effects. Adrenal insufficiency and excess glucocorticoids affect immune conditions also besides metabolism. This review aims to analyze the rationale for the fear of direct effects of SARS-Cov-2 on endocrinological disorders, to study the influence of pre-existing endocrine disorders on the course of the infection, and the actual data in childhood. Currently, data concerning endocrine function during the pandemic are scarce in childhood and for many aspects definite conclusions cannot be drawn, however, data on properly managed patients with adrenal insufficiency at present are re-assuring. Too little attention has been paid to thyroid function and further studies may be helpful. The available data support a need for adequate vitamin D supplementation, caution in obese patients, monitoring of thyroid function in hospitalized patients, and confirm the need for an awareness campaign for the increased frequency of precocious puberty, rapidly progressive puberty and precocious menarche. The changes in lifestyle, the increased incidence of overweight and the change in the timing of puberty lead also to hypothesize that there might be an increase in ovarian dysfunction, as for example polycystic ovarian disease, and metabolic derangements in the next years, and in the future we might be facing fertility problems. This prompts to be cautious and maintain further surveillance.
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Insuficiencia Suprarrenal , COVID-19 , Enfermedades del Sistema Endocrino , Insuficiencia Suprarrenal/epidemiología , Enzima Convertidora de Angiotensina 2 , COVID-19/epidemiología , Niño , Enfermedades del Sistema Endocrino/epidemiología , Femenino , Humanos , Inflamación , Pandemias , Peptidil-Dipeptidasa A , SARS-CoV-2 , Vitamina DRESUMEN
Parents play a key role in the youth sports educational experience. They are responsible for the introduction of their children to physical or sporting education and their involvement has been associated with sport participation in early stages. The aims of this cross-sectional study were, first, to assess the perceived and desired parental involvement by children and, secondly, to examine their satisfaction or dissatisfaction with any specific behavior. 80 male soccer players filled the Parental Involvement in Sport Questionnaire (PISQ) before or after a training session in presence of a coach. PISQ results revealed excessive active involvement and pressure, insufficient praise and understanding and satisfactory directive behavior from children's parents. Our findings suggest that excessive parental involvement can cause pressure on children who would prefer parental participation characterized by praise and understanding. A balance between a supporting involvement without putting too much pressure is needed by the parents. To prevent burnout and dropout and to facilitate future practice, parents should be counseled (possibly by a sport educator) on how to positively support their children concerning their sport experience.
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Fútbol , Deportes , Deportes Juveniles , Adolescente , Estudios Transversales , Humanos , Masculino , Encuestas y CuestionariosRESUMEN
Background: Although the diagnosis of new coronavirus 2019 (COVID-19) is made through the identification of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in respiratory secretions by means of molecular methods, a more accurate estimation of SARS-CoV-2 circulation can be obtained by seroprevalence studies. The main aim of this study was to evaluate the true epidemiology of SARS-CoV-2 infection among workers in the metal-mechanical sector who never stopped working during the pandemic period in an area with a high incidence of COVID-19 and to define whether and how they could continue the work without appreciable risks during a second wave. Methods: A total of 815 metal-mechanical workers who had never stopped working even during the pandemic period in three different factories in the Emilia-Romagna Region, Italy, and who had always used face masks during working hours, underwent a capillary blood rapid test for the determination of IgM and IgG against SARS-CoV-2 (COVID-19 IgG/IgM Rapid test, PrimaLab, Modena, Italy). In the event of a positive test, a nasopharyngeal was performed and tested for the presence of SARS-CoV-2. Results: The detection of serum IgG/IgM against SARS-CoV-2 was significantly more common among workers employed in Parma (21/345, 6.1%) than among those employed in Calerno (7/242, 2.9%) or in Spilamberto (3/228, 1.3%) (p <0.001). The analysis of the role of the different variables as predictors of seropositivity for IgG/IgM against SARS-CoV-2 revealed that the presence of specific antibodies was strictly associated with a previous history of COVID-19-like symptoms (odds ratio [OR] 3.95, 95% confidence interval [CI] 1.9-8.2) and household members with COVID-19-like symptoms (OR 2.20, 95% CI 1.04-4.82). Conclusion: This study shows that seropositivity to SARS-CoV-2 is low even among employees who did not interrupt their work during the lockdown phase in a region with a high incidence of COVID-19. The use of face masks appears effective in the avoidance of the transmission of SARS-CoV-2 in factories even in the presence of asymptomatic or mildly symptomatic workers, suggesting that work activities can continue if adequate infection control measures are used during a second wave.
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COVID-19 , SARS-CoV-2 , Anticuerpos Antivirales , Control de Enfermedades Transmisibles , Humanos , Inmunoglobulina G , Inmunoglobulina M , Incidencia , Italia/epidemiología , Estudios SeroepidemiológicosRESUMEN
A short review on the clinical presentation of pediatrics cases of Bickerstaff brain encephalitis emphasizing the broad clinical spectrum of the disease. Cases of pediatric Bickerstaff's brainstem encephalitis collected on three electronic medical databases (PubMed, Cochrane Library and Scopus Web of Science) are reviewed. The inclusion criteria of the cases were based on the clinical characteristics of the disorder in the pediatric age. We reviewed 20 articles on Bickerstaff's brainstem encephalitis, identifying 40 pediatric cases focused on the clinical symptoms. We saw that the prevalence was higher in male subjects, and the median age at diagnosis was 8 years. The phenotype of pediatrics patients was similar to previously published literature. We identify three cases of overlapping forms between Bickerstaff brain encephalitis and Guillain-Barré Syndrome in patients with lower limbs weakness and typical signs of Bickerstaff brain encephalitis, suggesting a combined involvement of the central and peripheral nervous system. Although there is no defined data on incidence and prevalence in the literature, Bickerstaff's brainstem encephalitis appears to be a rare disorder, especially in children. The incidence of Bickerstaff brain encephalitis and Guillain-Barré Syndrome, and Miller Fisher Syndrome has been underrated in the past, primarily due to an underestimation of the forms with a Peripheral Nervous System involvement. Bickerstaff brain encephalitis usually has a rapid and acute onset within 2-4 weeks, characterized by a typical picture of ophthalmoplegia, hyperreflexia, cerebellar symptoms as ataxia. The subsequent manifestations of hyperreflexia or consciousness disturbances as drowsiness, sleepiness, or coma, indicative of central involvement, suggest a Bickerstaff brain encephalitis clinical diagnosis.
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Enfermedades Autoinmunes del Sistema Nervioso/fisiopatología , Tronco Encefálico/fisiopatología , Enfermedades Autoinmunes del Sistema Nervioso/epidemiología , Niño , Encefalitis/epidemiología , Encefalitis/fisiopatología , HumanosRESUMEN
Cytomegalovirus (CMV) is the most common cause of congenital infection and non-genetic sensorineural hearing loss in childhood. Up to 2% of neonates, with the highest percentages found in developing countries, are congenitally infected with CMV. At birth, most of these infants are asymptomatic. However, approximately 10% have signs and symptoms of the disease, and 40-60% of symptomatic neonates will later develop permanent neurologic sequelae. To reduce congenital CMV (cCMV) infection, a vaccine able to prevent primary infection is essential. In this narrative review, actual ongoing research about the development of a CMV vaccine is discussed. The progressive increase in knowledge on the ways in which the host's immune system and CMV relate has made it possible to clarify that the development of a vaccine that is certainly capable of reducing the risk of cCMV infection, and preventing both primary and nonprimary infections is extremely difficult. Many of the ways in which the virus evades the immune system and causes cCMV infection are not yet fully understood, especially in cases of nonprimary infection. Moreover, the schedule that should be recommended and that subjects must be vaccinated to obtain the greatest effect have not been precisely defined. Further studies are needed before the problem of cCMV infection and its related challenges can be totally solved.
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Cystic fibrosis (CF), the most common autosomal-recessive genetic disease in the Caucasian population, is characterized by frequent respiratory infections and progressive lung disease. Fungal species are commonly found in patients with CF, and among them, Aspergillus fumigatus is the most frequently isolated. While bacteria, particularly Pseudomonas aeruginosa, have a well-established negative effect on CF lung disease, the impact of fungal infections remains unclear. In patients with CF, inhalation of Aspergillus conidia can cause allergic bronchopulmonary aspergillosis (ABPA), a Th2-mediated lung disease that can contribute to disease progression. Clinical features, diagnostic criteria and treatment of ABPA are still a matter of debate. Given the consequences of a late ABPA diagnosis or the risk of ABPA overdiagnosis, it is imperative that the diagnostic criteria guidelines are reviewed and standardized. Along with traditional criteria, radiological features are emerging as tools for further classification as well as novel immunological tests. Corticosteroids, itraconazole and voriconazole continue to be the bedrock of ABPA therapy, but other molecules, such as posaconazole, vitamin D, recombinant INF-γ and Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulators, have been showing positive results. However, few studies have been conducted recruiting CF patients, and more research is needed to improve the prevention and the classification of clinical manifestations as well as to personalize treatment. Early recognition and early treatment of fungal infections may be fundamental to prevent progression of CF disease. The aim of this narrative review is to give an update on ABPA in children with CF.
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The 8p inverted duplication/deletion is a rare chromosomal rearrangement clinically featuring neurodevelopmental delay, mild to severe cognitive impairment, heart congenital defects and brain abnormalities. Patients affected also present typical facial dysmorphisms and skeletal malformations, and it is thought that the composite clinical picture may fall into the chromosomal rearrangement architecture. With the major aim of better framing its related clinical and diagnostic paths, we describe a patient carrying a de novo invdupde[8p] whose clinical features have not been described so far. Hence, through an extensive genotype-phenotype correlation analysis and by reviewing the dedicated scientific literature, we compared our patient's features with those reported in other patients, which allows us to place our proband's expressiveness in an intermediate area, widening the scope of the already known invdupde[8p] genotype-phenotype relationship.