Autoimmune polyendocrine syndromes in the pediatric age

Autoimmune polyendocrine syndromes (APSs) encompass a heterogeneous group of rare diseases characterized by autoimmune activity against two or more endocrine or non-endocrine organs. Three types of APSs are reported, including both monogenic and multifactorial, heterogeneous disorders. The aim of this manuscript is to present the main clinical and epidemiological characteristics of APS-1, APS-2, and IPEX syndrome in the pediatric age, describing the mechanisms of autoimmunity and the currently available treatments for these rare conditions

Sexual developmental disorders in pediatrics

Disorders of sex development (DSD) are a heterogeneous group of pathologies that result in an alteration in sex determination or differentiation. DSD are estimated to affect 1: 4,500 newborns and according to the 2006 Chicago Consensus classification, DSD can be divided into three categories: those with a 46 XX karyotype, those with a 46 XY karyotype and those relating to sex chromosomes. It is crucial to correctly identify the pathology already in the first days of life to direct the patient and his family to the best path of care. For this reason, the role of the pediatrician is fundamental in the correct identification of the clinical picture and in supporting the family during the long process that involves the management of these patients. To make a diagnosis, it is necessary to follow a path led by a multidisciplinary team that includes several steps such as the execution of the genetic analysis, the evaluation with diagnostic imaging methods and laboratory evaluations. The therapeutic management, on the other hand, is still very complex even if in recent years we have moved from an attitude of early gender reassignment to an approach of watchful waiting to let the patient choose when she/he is mature enough to do so, which gender she/he feels to belong. It should not be forgotten that throughout this process the pediatrician must be both supportive and clinically active in the management of the child and his family

The mental health impact of COVID-19 and lockdown-related stressors among adults in the UK.

Background The COVID-19 pandemic in the UK and subsequent lockdown may have affected the mental health of the population. This study examines whether there was an increase in the prevalence and incidence of common mental disorders (CMD) in the UK adult population during the first months of lockdown and whether changes in CMD were associated with stressors related to the pandemic and lockdown. Methods Longitudinal data from the UK Household Longitudinal Study waves 10-11: 2019-2020 and waves 1-4 of the COVID-19 monthly surveys in April (n = 17 761) to July 2020 (n = 13 754), a representative sample of UK adult population, were analysed. CMD was measured using the 12-item General Health Questionnaire (GHQ-12) (cut-off >2). Changes in CMD were analysed in relation to COVID-19 and social stressors. Results Around 29% of adults without CMD less than a year earlier had a CMD in April 2020. However, by July 2020, monthly incidence of CMD had reduced to 9%. Most employment, financial and psychological 'shocks' were at their highest levels in April and reduced steadily in later months. Despite the lifting of some lockdown conditions by July, stressors related to loneliness, unemployment, financial problems and domestic work continued to influence CMD. Conclusion Some COVID-19 policy responses such as furloughing may have been effective in mitigating the increase in CMD for some groups of employees. Despite some reduction in levels of pandemic and lockdown-related stressors by the middle of 2020, loneliness and financial stressors remained key determinants of incidence in CMD among the UK adult population

Antioxidant properties of plant polyphenols in the counteraction of alcohol-abuse induced damage: impact on the mediterranean diet

Polyphenols are antioxidants contained in plants as olive and grape. As part of the Mediterranean diet, they may decrease the risk of cancer, of chronic and neurodegenerative diseases. Alcohol consumption plays a detrimental effect on health, causing tissue damage and disrupting the metabolism of Neurotrophins (NTs). NTs are crucial proteins for the life cycle of neuronal and non-neuronal cells. Alcohol abuse elicits changes in NTs levels in the brain and in other target organs, however, it was observed minor damage in animals early exposed to red wine, probably due to the antioxidant effects of polyphenols. Indeed, data show that resveratrol or other polyphenols extracted from the olive can effectively counteract serum free radicals’ formation caused by chronic alcohol intake, contrasting also alcohol-induced NTs liver elevation. The aim of the present review is to update pieces of evidences about the antioxidant properties of polyphenols and their role in counteracting alcohol-induced damage

Are Flexible Work Arrangements Associated with Lower Levels of Chronic Stress-Related Biomarkers? A Study of 6025 Employees in the UK Household Longitudinal Study

Debates around the benefits of flexible work arrangements for employee well-being are limited by a lack of empirical analyses on whether flexible working enables employees with work or family stressors to cope with their levels of stress. This study examines whether the availability and use of different flexible work arrangements are associated with lower allostatic load (an index of chronic stress-related biomarkers) in a large representative study of UK adults. Male and female employees who made use of reduced hours working arrangements had lower levels of allostatic load. Among women caring for two or more children aged under 15, there was a difference of almost one unit of the allostatic load index (an additional biomarker risk) between women who used reduced hours flexible work and those without such arrangements. Reduced hours flexible work arrangements could enable women who combine work and family roles to reduce their levels of chronic stress

Neuroinflammatory markers in the serum of prepubertal children with down syndrome

Down Syndrome (DS) is the most common chromosomal disorder. Although DS individuals are mostly perceived as characterized by some distinct physical features, cognitive disabilities, and cardiac defects, they also show important dysregulations of immune functions. While critical information is available for adults with DS, little literature is available on the neuroinflammation in prepubertal DS children. We aimed to evaluate in prepubertal DS children the serum levels of nerve growth factor (NGF) and brain-derived neurotrophic factor (BDNF), oxidative stress as free oxygen radicals defense (FORD), free oxygen radicals test (FORT), and cytokines playing key roles in neuroinflammation and oxidative processes as TNF-, TGF-β, MCP-1, IL-1, IL-2, IL-6, IL-10, and IL-12. No differences were found in NGF between DS children and controls. However, BDNF was higher in DS subjects compared to controls. We also did not reveal changes in FORD and FORT. Quite interestingly, the serum of DS children disclosed a marked decrease in all analyzed cytokines with evident differences in serum cytokine presence between male and female DS children. In conclusion, the present study evidences in DS prepubertal children a disruption in the neurotrophins and immune system pathways

Thermal Decomposition Kinetics and Mechanism of In-Situ Prepared Bio-Based Poly(propylene 2,5-furan dicarboxylate)/Graphene Nanocomposites

Bio-based polyesters are a new class of materials that are expected to replace their fossil-based homologues in the near future. In this work, poly(propylene 2,5-furandicarboxylate) (PPF) nanocomposites with graphene nanoplatelets were prepared via the in-situ melt polycondensation method. The chemical structure of the resulting polymers was confirmed by 1H-NMR spectroscopy. Thermal stability, decomposition kinetics and the decomposition mechanism of the PPF nanocomposites were studied in detail. According to thermogravimetric analysis results, graphene nanoplatelets did nοt affect the thermal stability of PPF at levels of 0.5, 1.0 and 2.5 wt.%, but caused a slight increase in the activation energy values. Pyrolysis combined with gas chromatography and mass spectroscopy revealed that the decomposition mechanism of the polymer was not altered by the presence of graphene nanoplatelets but the extent of secondary homolytic degradation reactions was increased

A survey of Italian and Spanish neonatologists and paediatricians regarding awareness of the diagnosis of FAS and FASD and maternal ethanol use during pregnancy

<p>Abstract</p> <p>Background</p> <p>Ethanol is the most widely used drug in the world and a human teratogen whose consumption among women of childbearing age has been steadily increasing. There are no Italian or Spanish statistics on ethanol consumption during pregnancy nor any information regarding prevalence of fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorders (FASD). There is also a reasonable suspicion that these two diseases are underdiagnosed by professionals from the above-reported countries. The objectives of this study were: 1) to evaluate the experience, knowledge and confidence of Italian and Spanish neonatologists and paediatricians with respect to the diagnosis of FAS and FASD, and 2) to evaluate professionals awareness of maternal drinking patterns during pregnancy.</p> <p>Methods</p> <p>A multiple-choice anonymous questionnaire was e-mailed to Italian neonatologists registered in the mailing list of the corresponding Society and administered to Italian and Spanish paediatricians during their National Congress.</p> <p>Results</p> <p>The response rate was 16% (63/400) for the Italian neonatologists of the National Society while a total of 152 Spanish and 41 Italian paediatricians agreed to complete the questionnaire during National Congress. Over 90% of the surveyed physicians declared that FAS is an identifiable syndrome and over 60% of them identified at least one of the most important features of FAS. Although over 60% Italian responders and around 80% Spanish responders were aware that ethanol use in pregnancy is dangerous, approximately 50% Italian responders and 40% Spanish ones allowed women to drink sometimes a glass of wine or beer during pregnancy.</p> <p>Neonatologists and paediatricians rated confidence in the ability to diagnosis FAS and FASD as low, with over 50% responders feeling they needed more information regarding FAS and FASD identification in newborn and child.</p> <p>Conclusions</p> <p>Italian and Spanish neonatologists and paediatricians do not feel confident about diagnosing FAS and FASD. More training is needed in order to accurately diagnose ethanol use during pregnancy and correctly inform pregnant women on the consequences on the newborn.</p

Mowat-Wilson syndrome: growth charts

Background Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of theZEB2gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children. Results In newborns, weight and length were distributed as in the general population, while head circumference was slightly smaller, with an average below the 30th centile. Up to the age of 7 years, weight and height distribution was shifted to slightly lower values than in the general population; after that, the difference increased further, with 50% of the affected children below the 5th centile of the general population. BMI distribution was similar to that of non-affected children until the age of 7 years, at which point values in MWS children increased with a less steep slope, particularly in males. Microcephaly was sometimes present at birth, but in most cases it developed gradually during infancy; many children had a small head circumference, between the 3rd and the 10th centile, rather than being truly microcephalic (at least 2 SD below the mean). Most patients were of slender build. Conclusions These charts contribute to the understanding of the natural history of MWS and should assist pediatricians and other caregivers in providing optimal care to MWS individuals who show problems related to physical growth. This is the first study on growth in patients with MWS