Phenotypic Overlap in Children with Tall Stature: A Case of Weaver Syndrome

Introduction: Tall stature is defined as length or height more than two standard deviations above the mean for age of the refer- ence population. There are different causes of tall stature from a familial trait or a transient anticipation of growth with no major consequences to growth disorders, such as endocrine disorder and syndromic conditions like overgrowth syndromes. Case Presentation: In this study, we reported the case of a 7-year-old girl with tall stature from birth. The patient showed a general- ized overgrowth, associated with extremely advanced bone age, dysmorphic features such as a broad forehead and large extremities, and a slight neurodevelopmental delay. Laboratory tests were normal, and the main hormonal disorders were ruled out. The diag- nosis of overgrowth syndrome was suspected according to the clinical presentation, and the diagnosis of Weaver syndrome was confirmed by the finding of the pathogenic mutation c.2050C > T p.(Arg684Cys) in EZH2 gene through next generation sequencing (NGS). Conclusions: Our patient showed phenotypical features related to different overgrowth syndrome characteristics. We underlined the difficulties in reaching a clinical diagnosis in presence of tall stature. The role of molecular biology, particularly genetic analysis by NGS approach, should be considered in cases of tall stature with phenotypic overlap

Stigma on Mental Health among High School Students: Validation of the Italian Version of the Attribution Questionnaire-27 (AQ-27-I) in a High School Student Population

The purpose of this study was to describe the psychometric characteristics of the AQ-27-I in a high school student population. Students aged between 17 and 20 years and attending the fourth and fifth year of a scientific high school in Milan were approached at the school and were asked to fill in an anonymous socio-demographic form and the AQ-27-I. Cronbach’s alpha was used to estimate the instrument reliability and confirmatory factor analysis (CFA) was conducted and compared to the original English version factor structure. The AQ-27-I demonstrated acceptable internal consistency, with a Cronbach’s alpha of 0.87 and only one subscale (Personal responsibility) with an alpha lower than 0.60. Fit indices were very positive for the Dangerousness Model supporting the factor structure and paths of the original version. The Personal Responsibility Model, on the other hand, showed some weakness, concerning the process dynamics of the model. The results obtained are similar with those from other studies carried out in Italy and other countries. The questionnaire can be used for the quantitative description of stereotypes, emotions and behaviors associated with stigma in mental health in high school student populations

Trogocytosis in innate immunity to cancer is an intimate relationship with unexpected outcomes

Trogocytosis is a cellular process whereby a cell acquires a membrane fragment from a donor cell in a contact-dependent manner allowing for the transfer of surface proteins with functional integrity. It is involved in various biological processes, including cell-cell communication, immune regulation, and response to pathogens and cancer cells, with poorly defined molecular mechanisms. With the exception of eosinophils, trogocytosis has been reported in most immune cells and plays diverse roles in the modulation of anti-tumor immune responses. Here, we report that eosinophils acquire membrane fragments from tumor cells early after contact through the CD11b/CD18 integrin complex. We discuss the impact of trogocytosis in innate immune cells on cancer progression in the context of the evidence that eosinophils can engage in trogocytosis with tumor cells. We also discuss shared and cell-specific mechanisms underlying this process based on in silico modeling and provide a hypothetical molecular model for the stabilization of the immunological synapse operating in granulocytes and possibly other innate immune cells that enables trogocytosis

Effects of rapid maxillary expander and delaire mask treatment on airway sagittal domention in pediatrc patirnts affected by class III malocclusion and obstructive sleep apnea syndeome

Abstract: Obstructive sleep apnea syndrome (OSAS) is a sleep-related breathing disorder that is very common in pediatric patients. In the literature, there are very few studies concerning the association between OSAS and class III malocclusion in children. The use of a rapid maxillary expander (RME) in association with the Delaire mask is a common treatment protocol for class III malocclusion. The aim of this work was to evaluate the cephalometric variations of upper airway dimensions and OSArelated clinical conditions after orthodontic treatment with an RME and the Delaire mask, as recorded in pediatric patients with a class III malocclusion who were affected by OSAS. In this preliminary study, 14 pediatric patients with mixed dentition, aged between 6 and 10 years, were selected. All patients were treated with an RME and the Delaire mask. Pre- and post-treatment cephalometric radiographs were traced, analyzed, and compared. The results demonstrated a significant increase in the upper airway linear measurements and the nasopharyngeal and oropharyngeal dimensions (p ≤ 0.05). This increase creates an improvement in airway patency and in OSAS-related clinical conditions. The use of the RME in association with the Delaire mask can be effective in the treatment of pediatric patients with a class III malocclusion who are affected by OSAS

Growth inhibition of selected microorganisms by an association of dairy starter cultures and probiotics

Several growth curves for selected pathogens and hygiene indicators alone and vs selected dairy starter cultures (LAB) and commercial probiotics have been performed. All strains for LAB and commercial probiotics were inoculated as pure cultures into skim milk to get an initial cocci:bacilli:enterocci ratio of 2:1:1 and a concentration of approx 107 cfu mL–1 until challenge vs selected pathogens and hygiene indicators. Selected pathogens came from the collection of the Laboratorio di Ispezione degli Alimenti di O.A. or were reference strains (Escherichia coli, CSH26 K12, Staphylococcus aureus, 27R, Salmonella Derby 27, Pseudomonas fluorescens ATCC 13525, Listeria innocua ATCC 33090). Each strain was inoculated into skim milk to get an initial concentration of approx 106 cfu mL–1. Growth curves in skim milk for the following challenges were studied: i) sterility control; ii) association LAB; iii) association of LAB vs each selected pathogen or hygiene indicator; iv) selected pathogen or hygiene indicator alone. The challenges were carried out in BHI broth and in skim milk at 37°C. The highest reduction was observed in milk but in general the association of LAB and the probiotic was able to limit the growth of pathogens and hygiene indicators.http://www.aspajournal.itindex.php/ijas/indexam201

Translation and validation of an Italian language version of the Religious Beliefs and Mental Illness Stigma Scale (I-RBMIS)

The aim of this study is to validate the Italian version of the Religious Beliefs and Mental Illness Stigma Scale (I-RBMIS): a self-report measure of religious beliefs that may contribute to stigma regarding mental disorders. Scale validation included: linguistic validation; pilot test for understandability; face validity; factor analysis as test of dimensionality; Kaiser–Meyer–Olkin test to evaluate sample sampling adequacy; internal consistency was assessed using Cronbach’s alpha; scale validity was assessed through concurrent criterion validity using as gold standard the Italian version of Attribution Questionnaire 27 and mental health knowledge schedule; A total of 311 people agreed to participate in the study. Face validity showed that 13 items out of 16 were completely understandable while only three items (4, 9 and 13) highlighted small lexical concerns. The average compilation time was under 4 min. Bartlett’s test for sphericity was statistically significant (Χ2 = 1497.54; df = 120; p < 0.001). Cronbach's alpha values were acceptable both for the entire questionnaire (0.80) and for the morality/sin subscale (0.73), whereas it was slightly below the standard cutoff for the spiritually oriented causes/treatments (0.68). Scale validity showed a positive correlation between I-RBMIS and AQ-27-I, and a negative correlation between I-RBMIS and MAKS-I. I-RBMIS demonstrated good psychometric properties to assess stigmatizing religious beliefs toward mental illness in general population

Margins and Forgotten Places

In 2020, a group of doctoral students decided to submit an interdisciplinary proposal for the organisation of the first doctoral conference of the newly founded United Doctoral School of the University of Verona. Despite the outbreak and long-term, socio-economic consequences of the Covid-19 pandemic – which put academic activities under a severe strain – the conference proposal was warmly welcomed and promoted by the School as an opportunity for dialogue that could transcend disciplinary boundaries, and as encouragement to continue the too often underappreciated but significant work of scientific research at the margins and on the margins . It was from the concept of margins – seen as limit, as an opportunity, as a meeting place for contact and cross-fertilisation between definitions, traditional perspectives, societies, cultures – that the international conference Margins and Forgotten Places was developed. Our main imperative since the conception of this work was the application of multifaceted expressions of research innovation to socially relevant challenges of the present age. For this purpose we brought the commitment to collective well-being to the forefront of every discipline’s attention, and we allocated a full day to delve into the 17 Sustainable Development Goals (SDGs) outlined in the United Nations’ 2030 Agenda. Together with outstanding keynote speakers, more than sixty speakers presented their contributions, which are still available online on our YouTube channel, and which are partially published in this volume. In an increasingly alienating and highly specialised academic world, we, the Organising Committee, wish to advocate the choral value of scientific research and advise as many colleagues as possible to promote interdisciplinary initiatives that deepen the little, the small and the useless. Only by actively listening what is different, indeed, can we truly appreciate what we already know, thus using our positive attitude towards learning and researching knowledge beyond borders to imagine and shape a different future

A importância da leitura de fruição feita pelo professor em sala de aula para formação de alunos leitores e produtores de textos

Para despertar nas pessoas o gosto pela leitura necessrio que elas conheam tudo o que pode adquirir atravs da leitura, o prazer e o conhecimento que ela pode proporcionar. O lugar mais indicado para que isso ocorra a escola. Cabe a ela incutir em seus alunos o hbito de ler, e para que isso ocorra, o professor que deve dar o exemplo, ler para seus alunos, incentivando-os a faz lo. atravs da prtica da leitura e da escrita, que formaremos cidados capazes de expressar suas idias e pensamentos, de forma coerente, conquistando assim, mais facilmente, seu lugar no mercado de trabalho

The role of polymorphisms in vitamin d-related genes in response to vitamin d supplementation

Background. Vitamin D deficiency represents a major healthcare problem. Vitamin D status is influenced by genetic and environmental determinants. Several observational studies have evaluated the association of single-nucleotide polymorphisms (SNPs) in vitamin D-related genes and vitamin D levels. Nevertheless, little is known about the role of these SNPs in the response to vitamin D supplementation. We conducted an interventional study to define the association between SNPs in vitamin D-related genes and the response to vitamin D supplementation in 100 self-reported healthy women of Arab ancestry for the majority. Methods. A total of 100 healthy female subjects received a weekly oral dose of 50,000 IU vitamin D for 12 weeks. Serum vitamin D concentration and metabolic profiles were measured at baseline and 12 weeks post-vitamin D supplementation. The genotypes of 37 SNPs selected from previously reported vitamin D-related genes have been assessed by Fluidigm genotyping assay. Results. Rs731236 (VDR gene) and rs7116978 (CYP2R1 gene) showed a significant association with vitamin D status. The rs731236 GG genotype and the rs7116978 CC genotype were associated with a “vitamin D sufficiency” state. Rs731236 GG and rs7116978 CC genotypes showed a higher response to vitamin D supplementation. Transcription factor binding site prediction analysis showed altered binding sites for transcription factors according to the different rs7116978 alleles. Interestingly, the 37 SNPs previously established to play a role in vitamin D-related pathways explained very little of the response to vitamin D supplementation in our cohort, suggesting the existence of alternative loci whose number and effect size need to be investigated in future studies. Conclusion. In this paper, we present novel data on vitamin D-related SNPs and response to vitamin D supplementation demonstrating the feasibility of applying functional genomic approaches in interventional studies to assess individual-level responses to vitamin D supplementation.This study was supported by funds from Qatar University, Grant ID: QUCP-CHS-17\18-1