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

Pilot study of a randomised trial of a guided e-learning health promotion intervention for managers based on management standards for the improvement of employee well-being and reduction of sickness absence: the GEM (Guided E-learning for Managers) study

Background: Psychosocial work environments influence employee well-being. There is a need for an evaluation of organisational-level interventions to modify psychosocial working conditions and hence employee well-being. Objective: To test the acceptability of the trial and the intervention, the feasibility of recruitment and adherence to and likely effectiveness of the intervention within separate clusters of an organisation. Design: Mixed methods: pilot cluster randomised controlled trial and qualitative study (in-depth interviews, focus group and observation). Participants: Employees and managers of a NHS trust. Inclusion criteria were the availability of sickness absence data and work internet access. Employees on long-term sick leave and short-term contracts and those with a notified pregnancy were excluded. Intervention: E-learning program for managers based on management standards over 10 weeks, guided by a facilitator and accompanied by face-to-face meetings. Three clusters were randomly allocated to receive the guided e-learning intervention; a fourth cluster acted as a control. Main outcome measures: Recruitment and participation of employees and managers; acceptability of the intervention and trial; employee subjective well-being using the Warwick–Edinburgh Mental Wellbeing Scale (WEMWBS); and feasibility of collecting sickness absence data. Results: In total, 424 employees out of 649 approached were recruited and 41 managers out of 49 were recruited from the three intervention clusters. Of those consenting, 350 [83%, 95% confidence interval (CI) 79% to 86%] employees completed the baseline assessment and 291 (69%, 95% CI 64% to 73%) completed the follow-up questionnaires. Sickness absence data were available from human resources for 393 (93%, 95% CI 90% to 95%) consenting employees. In total, 21 managers adhered to the intervention, completing at least three of the six modules. WEMWBS scores fell slightly in all groups, from 50.4 to 49.0 in the control group and from 51.0 to 49.9 in the intervention group. The overall intervention effect was 0.5 (95% CI –3.2 to 4.2). The fall in WEMWBS score was significantly less among employees whose managers adhered to the intervention than among those employees whose managers did not (–0.7 vs. 1.6, with an adjusted difference of 1.6, 95% CI 0.1 to 3.2). The intervention and trial were acceptable to managers, although our study raises questions about the widely used concept of ‘acceptability’. Managers reported insufficient time to engage with the intervention and lack of senior management ‘buy-in’. It was thought that the intervention needed better integration into organisational processes and practice. Conclusions: The mixed-methods approach proved valuable in illuminating reasons for the trial findings, for unpacking processes of implementation and for understanding the influence of study context. We conclude from the results of our pilot study that further mixed-methods research evaluating the intervention and study design is needed. We found that it is feasible to carry out an economic evaluation of the intervention. We plan a further mixed-methods study to re-evaluate the intervention boosted with additional elements to encourage manager engagement and behaviour change in private and public sector organisations with greater organisational commitment

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

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

Comparison of electronic versus conventional assessment methods in ophthalmology residents; a learner assessment scholarship study

Background: Assessment is a necessary part of training postgraduate medical residents. The implementation of methods located at the �shows how� level of Miller�s pyramid is believed to be more effective than previous conventional tools. In this study, we quantitatively compared electronic and conventional methods in assessing ophthalmology residents. Methods: In this retrospective study, eight different conventional methods of assessment including residents� attendance, logbook, scholarship and research skills, journal club, outpatient department participation, Multiple Choice Question (MCQ), Objective Structured Clinical Examination (OSCE), and professionalism/360-degree (as one complex) were used to assess 24 ophthalmology residents of all grades. Electronic media consisting of an online Patient Management Problem (e-PMP), and modified electronic OSCE (me-OSCE) tests performed 3 weeks later were also evaluated for each of the 24 residents. Quantitative analysis was then performed comparing the conventional and electronic assessment tools, statistically assessing the correlation between the two approaches. Results: Twenty-four ophthalmology residents of different grades were included in this study. In the electronic assessment, average e-PMP scores (48.01 ± 12.40) were much lower than me-OSCE (65.34 ± 17.11). The total average electronic score was 56.67 ± 11.28, while the total average conventional score was 80.74 ± 5.99. Female and male residents� average scores in the electronic and conventional method were (59.15 ± 12.32 versus 83.01 ± 4.95) and (55.19 ± 10.77 versus 79.38 ± 6.29), respectively. The correlation between modified electronic OSCE and all conventional methods was not statistically significant (P-value >0.05). Correlation between e-PMP and six conventional methods, consisting of professionalism/360-degree assessment tool, logbook, research skills, Multiple Choice Questions, Outpatient department participation, and Journal club active participation was statistically significant (P-value < 0.05). The overall correlation between conventional and electronic methods was significant (P-value = 0.017). Conclusion: In this study, we conclude that electronic PMP can be used alongside all conventional tools, and overall, e-assessment methods could replace currently used conventional methods. Combined electronic PMP and me-OSCE can be used as a replacement for currently used gold-standard assessment methods, including 360-degree assessment. © 2021, The Author(s)

The role of qualitative research in adding value to a randomised controlled trial: lessons from a pilot study of a guided e-learning intervention for managers to improve employee wellbeing and reduce sickness absence

The GEM study was funded by the National Institute for Health Research Public Health Research Programme (project number 10/3007/06)

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

Interaction between Education and Household Wealth on the Risk of Obesity in Women in Egypt

Obesity is a growing problem in lower income countries particularly among women. There are few studies exploring individual socioeconomic status indicators in depth. This study examines the interaction of education and wealth in relation to obesity, hypothesising that education protects against the obesogenic effect of wealth

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