Stem-Skilled Parents and Autism Spectrum Disorder in Offspring: A Case-Control Study

Autism spectrum disorder (ASD) is a neurodevelopment disorder characterised by a range of deficits in two specific domains: social communication and social interaction and repetitive patterns of behaviour. Several studies have explored the link between ASD and STEM (science, technology, engineering and mathematics, or other mathematics-grounded disciplines), but results are still uncertain. Objective of the study was to estimate the potential role of systemising abilities in parents as a risk factor for ASD in the offspring, using the achievement of a degree in STEM disciplines as a proxy characteristic of the exposure. There were 1,316 participants overall. There were 658 incident consecutive cases of definite ASD, diagnosed in a Reference Centre for ASD in Italy, from 2001 to 2020. The main exposure variable was parental education level. The risk of ASD in the offspring associated with the main exposure variable and the exposure covariates (e.g. use of neurotropic drugs during the first trimester of the mother’s pregnancy, perinatal outcomes of participants and/or preterm birth) was studied by using conditional logistic regression analysis. In addition, we carried out a mediation analysis to investigate whether and the extent to which covariates significantly associated with ASD risk mediate the relationship between parental education level and ASD in offspring. A STEM degree in parents was significantly associated with risk of ASD in offspring (OR 1.43, 95% CI 1.03-2.54). Familiarity was weakly associated with the risk of ASD (OR 1.33, 95% CI 1.00-1.66) and is the stronger mediator (PME 28%). Sensitivity analysis did not show deviations related to gender or ASD level. Our study moves in the direction of confirming the risk of occurrence of ASD in the offspring of parents with elevated systemising abilities

Millets and Cereal Meals from the Early Iron Age Underwater Settlement of “Gran Carro” (Bolsena Lake, Central Italy)

Archeobotanical materials recovered from pottery vessels originating from the underwater archeological site of “Gran Carro”, located in Central Italy on the shore of Bolsena Lake, were analyzed to obtain new insight into the agricultural habits present in this Iron Age settlement. The archeobotanical study of cereal remains was combined with analytical data obtained from an amorphous organic residue using optical microscopy, SEM-EDS, ATR/FT-IR and Py-GC/MS. The cereal remains of emmer wheat (Triticum dicoccum), barley (Hordeum vulgare), broomcorn millet (Panicum miliaceum), and foxtail millet (Setaria italica) were identified as the preferred crops used for food and/or fodder at the site. The presence of charred millets, which have been directly dated by AMS, confirms consumption at the site and adds to the little-known background of millet use in central Italy. The find of millets in a perilacustrine pile-dwelling during a period when the water level of the Bolsena Lake was several meters lower than at present, attesting to a general dry period, suggests that the cultivation of millets, complementing more productive crops of wheat and barley, may have been favored by the availability of a large seasonally dry coastal plain, characterized by poor and sandy soils unsuitable for more demanding cereals

Diagnostic assessment, therapeutic care and education pathways in persons with autism spectrum disorder in transition from childhood to adulthood: the Italian National Ev.A Longitudinal Project

Introduction. The transition from childhood to adulthood is one of the main critical points in the network of services for taking care of people with autism spectrum disorder (ASD). Within the framework of the national research programs on autism, an exploratory longitudinal multicentre study was conducted. This research program, called “Ev.A Project (Developmental and Adult Age)”, was proposed by the Italian National Institute of Health (Istituto Superiore di Sanità, ISS) and the aim was the development and testing of a diagnostic, therapeutic, assistance and educational pathway (PDTAE) for autism. Aim. The present study aimed to evaluate two impact outcomes of the care protocol: the response obtained by the ASD person, and the perception of the change in the family context. Methods. Participants underwent an initial clinical evaluation and then after one year. Over the course of the year, participants undertook a program of intervention. The measures of adaptive functioning, need for support, psychiatric symptomatology and family quality of life were used for the outcome assessment. Linear mixed models were constructed for each measure to estimate the explanatory/predictive behavior of the intensity of the interventions, adjusted for the participant’s level of symptom severity. Results. The results estimate a main effect of Intervention Group (b=-27.22, p<0.001) and severity level (b=-41.87, p<0.001) on the adaptive functioning of the ASD person, but no effect on performance on the dimension of Family Quality of Life (b=0.523, p=0.455). Conclusions. The most significant predictor of the impact on the ASD person is the activation of the service network, which must take into account the level of severity of the presented symptoms

Psychopathological factors and personality dimensions on dysfunctional eating behaviors in a sample of individuals with obesity

IntroductionObesity and eating disorders are considered to be part of a broad spectrum of disorders associated with weight issues and maladaptive eating styles. Several studies show that psychopathological and personality characteristics contribute to the development and maintenance of obesity and dysfunctional eating behaviors, showing a bidirectional relationship. The purpose of this study was to understand the role of psychopathological factors and personality dimensions on dysfunctional eating behaviors in a sample of individuals with obesity.MethodsThe study was conducted with 96 individuals with obesity (31 males and 65 females) who underwent psychological assessment. The instruments administered included the Cognitive Behavioral Assessment 2.0 - Primary Scales, the Minnesota Multiphasic Personality Inventory-2, and the Eating Disorder Inventory. Relationships between dysfunctional eating behaviors and personality and psychopathological factors were explored through mediation analysis.Results and discussionOur results showed that difficulties related to impulse control and behavior, along with negative and dysphoric emotions, may be associated with difficulties in eating behavior. Mediation analysis showed that the combination of depressive and obsessive-compulsive symptomatology may exacerbate or contribute to the occurrence of eating disorders. These psychopathological aspects should be taken into account during the assessment of patients who decide to undergo bariatric surgery and should be targets of specific psychological interventions

The “Diabetes Comorbidome”: A Different Way for Health Professionals to Approach the Comorbidity Burden of Diabetes

(1) Background: The disease burden related to diabetes is increasing greatly, particularly in older subjects. A more comprehensive approach towards the assessment and management of diabetes’ comorbidities is necessary. The aim of this study was to implement our previous data identifying and representing the prevalence of the comorbidities, their association with mortality, and the strength of their relationship in hospitalized elderly patients with diabetes, developing, at the same time, a new graphic representation model of the comorbidome called “Diabetes Comorbidome”. (2) Methods: Data were collected from the RePoSi register. Comorbidities, socio-demographic data, severity and comorbidity indexes (Cumulative Illness rating Scale CIRS-SI and CIRS-CI), and functional status (Barthel Index), were recorded. Mortality rates were assessed in hospital and 3 and 12 months after discharge. (3) Results: Of the 4714 hospitalized elderly patients, 1378 had diabetes. The comorbidities distribution showed that arterial hypertension (57.1%), ischemic heart disease (31.4%), chronic renal failure (28.8%), atrial fibrillation (25.6%), and COPD (22.7%), were the more frequent in subjects with diabetes. The graphic comorbidome showed that the strongest predictors of death at in hospital and at the 3-month follow-up were dementia and cancer. At the 1-year follow-up, cancer was the first comorbidity independently associated with mortality. (4) Conclusions: The “Diabetes Comorbidome” represents the perfect instrument for determining the prevalence of comorbidities and the strength of their relationship with risk of death, as well as the need for an effective treatment for improving clinical outcomes

Antidiabetic Drug Prescription Pattern in Hospitalized Older Patients with Diabetes

Objective: To describe the prescription pattern of antidiabetic and cardiovascular drugs in a cohort of hospitalized older patients with diabetes. Methods: Patients with diabetes aged 65 years or older hospitalized in internal medicine and/or geriatric wards throughout Italy and enrolled in the REPOSI (REgistro POliterapuie SIMI—Società Italiana di Medicina Interna) registry from 2010 to 2019 and discharged alive were included. Results: Among 1703 patients with diabetes, 1433 (84.2%) were on treatment with at least one antidiabetic drug at hospital admission, mainly prescribed as monotherapy with insulin (28.3%) or metformin (19.2%). The proportion of treated patients decreased at discharge (N = 1309, 76.9%), with a significant reduction over time. Among those prescribed, the proportion of those with insulin alone increased over time (p = 0.0066), while the proportion of those prescribed sulfonylureas decreased (p &lt; 0.0001). Among patients receiving antidiabetic therapy at discharge, 1063 (81.2%) were also prescribed cardiovascular drugs, mainly with an antihypertensive drug alone or in combination (N = 777, 73.1%). Conclusion: The management of older patients with diabetes in a hospital setting is often sub-optimal, as shown by the increasing trend in insulin at discharge, even if an overall improvement has been highlighted by the prevalent decrease in sulfonylureas prescription

Clinical features and outcomes of elderly hospitalised patients with chronic obstructive pulmonary disease, heart failure or both

Background and objective: Chronic obstructive pulmonary disease (COPD) and heart failure (HF) mutually increase the risk of being present in the same patient, especially if older. Whether or not this coexistence may be associated with a worse prognosis is debated. Therefore, employing data derived from the REPOSI register, we evaluated the clinical features and outcomes in a population of elderly patients admitted to internal medicine wards and having COPD, HF or COPD + HF. Methods: We measured socio-demographic and anthropometric characteristics, severity and prevalence of comorbidities, clinical and laboratory features during hospitalization, mood disorders, functional independence, drug prescriptions and discharge destination. The primary study outcome was the risk of death. Results: We considered 2,343 elderly hospitalized patients (median age 81 years), of whom 1,154 (49%) had COPD, 813 (35%) HF, and 376 (16%) COPD + HF. Patients with COPD + HF had different characteristics than those with COPD or HF, such as a higher prevalence of previous hospitalizations, comorbidities (especially chronic kidney disease), higher respiratory rate at admission and number of prescribed drugs. Patients with COPD + HF (hazard ratio HR 1.74, 95% confidence intervals CI 1.16-2.61) and patients with dementia (HR 1.75, 95% CI 1.06-2.90) had a higher risk of death at one year. The Kaplan-Meier curves showed a higher mortality risk in the group of patients with COPD + HF for all causes (p = 0.010), respiratory causes (p = 0.006), cardiovascular causes (p = 0.046) and respiratory plus cardiovascular causes (p = 0.009). Conclusion: In this real-life cohort of hospitalized elderly patients, the coexistence of COPD and HF significantly worsened prognosis at one year. This finding may help to better define the care needs of this population

Real-life efficacy of guselkumab in patients with early psoriatic arthritis

Objectives: To assess the efficacy of the novel anti-IL-23 monoclonal antibody Guselkumab in a real-life observational cohort of patients with early Psoriatic arthritis (PsA). Methods: We conducted an observational study on patients with early PsA followed by the joint dermatology-rheumatology clinics of two Italian centres starting therapy with guselkumab for severe skin involvement. Each patient was evaluated at baseline and every 24 weeks for one year, recording DAPSA, PASI, VAS Pain, VAS Prutitus, Patient's Global Assessment (PtGA) and assessing DAPSA response. Results: Twenty-four patients were recruited (16 women). The mean duration of skin disease was 12.5 years [CI 8; 17], but all patients had a shorter articular disease duration, 21.29 months [CI 15.9; 26.68]. At baseline, all patients displayed a moderate cutaneous disease with a mean PASI of 15.2 [CI 11.7-18.6] and high disease activity, characterized by mean DAPSA of 26.84 (CI 22.49-31.19). An inflammatory low back pain ware reported by five patients (20%) with a mean BASDAI 5.1 [4,38-5,85] at baseline. The majority of guselkumab-treated patients (N = 18; 75%) reached DAPSA remission or DAPSA low disease activity (LDA) after six months. Seventeen out of 24 patients completed 12 months of treatment, 11 of them (65%) in LDA, 6 (35%) in remission. All patients with axial disease reported improvement of inflammatory low back pain at week 24 with a mean BASDAI 2.98 [2,18- 3,77]. No significant side effects were reported. Conclusions: Real-life data on a cohort of early PsA patients confirm the efficacy and safety of Guselkumab on peripheral and axial manifestations

The Coexistence of Cervical Intraepithelial Neoplasia (CIN3) and Adenocarcinoma In Situ (AIS) in LEEP Excisions Performed for CIN3

The purpose of this study was to evaluate the incidence of AIS and AC in the histological cone of women treated for CIN3. Furthermore, through the study of the specific HR HPV genotypes, we obtained more information on the possible different nature between the single CIN3 lesion and the CIN3 coexisting with the glandular lesion. Methods. A sample of 414 women underwent LEEP for CIN3. The study sample consisted of 370 women with a CIN3 lesion alone and 44 women with a CIN3 lesion coexisting with AIS or adenocarcinoma. We studied the individual HR HPV genotypes and their frequency in the two groups under study. Furthermore, the therapeutic results and follow-ups for the population were studied on the entire study sample. Results. In patients with a single CIN3 lesion, 11 high-risk genotypes were detected; in patients with CIN3 associated with AIS or AC, only 4 different genotypes were detected (16, 18, 45, 33). Overall, the frequency of HPV 18 was significantly higher in CIN3 coexisting with AIS compared to solitary CIN3 lesions, χ2 = 27.73 (p < 0.001), while the frequency of other high-risk genotypes was significantly higher in patients with a single CIN3 than in patients with CIN3 coexisting with AIS. In our study population, mixed lesions (CIN3 coexisting with AIS), unlike their squamous counterparts (single CIN3 lesions), were characterized by skip lesions, which demonstrate more aggressive behavior and a higher rate of viral persistence and recurrence. Conclusion. A relatively high rate (10.7%) of AIS-AC was found in women treated for CIN3. Our study confirms the multifocal biological nature of the CIN3 lesion coexisting with AIS compared to the single CIN3 lesion. All this justifies the different treatments to which CIN3 lesions coexisting with AIS are addressed; in fact, the latter are treated with hysterectomy, while CIN3 is treated with conization alone

Cytokine profile, ferritin, and multi-visceral involvement characterise macrophage activation syndrome during adult-onset Still's disease

Objectives: To multidimensionally characterise macrophage activation syndrome (MAS) complicating adult-onset Still's disease (AOSD) considering cytokine profile, inflammatory markers, and multi-visceral involvement of the disease. To perform a high-dimensional phenotypic analysis of circulating immune cells in AOSD patients with and without MAS. To assess interferon (IFN) related pathways in AOSD synovial tissues by a bulky RNA sequencing. Methods: Clinical and biologic data were collected and compared in AOSD patients with and without MAS. Sera biomolecules were analysed by Luminex multiplexing technology. Mass cytometry (CyTOF) was used to characterise circulating immune cells. A bulky RNA sequencing was performed in AOSD synovial tissues. Results: 40 consecutive AOSD patients were assessed, 14 complicated with MAS. Paralleling with increases of systemic score and ferritin, MAS patients showed higher levels of IL-1α, IL-1β, IL-1Ra, IL-2Ra, IL-6, IL-10, IL-17A, IFN-γ, G-CSF, MCP-1, MIP-1α, SCF. Combining the discriminatory ability of these data in identifying MAS, the best model was composed by systemic score, ferritin, IFN-γ, and IL-10. By CyTOF analysis, MAS patients showed an increase of circulating "classical monocytes" and a reduction of total NK cells. Our assessment showed 3477 IFN related genes (IRGs) were differently expressed in AOSD synovial tissues. Conclusions: A multidimensional characterisation of AOSD patients suggested that IFN-γ, IL-10, ferritin, and systemic score discriminated the occurrence of cytokine storm syndrome associated with MAS. The inflammatory milieu of AOSD and MAS may be related to a signature of circulating immune cells. Finally, our results about IRGs reinforced the role of IFN-γ in these patients