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Abstract Background Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder. Individuals with PWS face a range of cognitive, behavioral, and emotional challenges that require comprehensive and lifelong care, posing significant demands on their caregivers. The study is not only aimed to assess the psychological conditions of caregivers of adult subjects with PWS focusing on psychological distress and coping, but also to shed light on a crucial yet often overlooked aspect of healthcare. This study aims to compare the psychological well-being of individuals with PWS and their caregivers, providing valuable insights that can potentially improve the quality of care for these individuals. The sample recruited at the Division of Auxology, IRCCS Istituto Auxologico Italiano, was composed of 30 adult subjects with PWS (11 men and 19 women; mean age ± SD: 36.4 ± 10.31 years; mean Body Mass Index (BMI): 35.7 ± 8.92: kg/m2) and their caregivers (10 men and 20 women). To assess the psychological condition of caregivers, the Italian-validated versions of the Depression Anxiety and Stress Scale (DASS-21) and the Coping Orientation to the Problems Experiences (COPE) were used, while to assess the psychological well-being of individuals with PWS and their caregivers, the Italian validated version of the Psychological General Well-Being Index (PGWBI) was used. Results Depression (p

Graziano Grugni,1,2 Alessandro Sartorio,1,2 Antonino Crinò3 1Division of Auxology, 2Experimental Laboratory for Auxo-endocrinological Research, San Giuseppe Hospital, Istituto Auxologico Italiano, Verbania, 3Autoimmune Endocrine Diseases Unit, Bambino Gesù Children’s Hospital, Rome, Italy Abstract: Prader–Willi syndrome (PWS) is characterized by a dysregulation of growth hormone (GH)/insulin-like growth factor I axis, as the consequence of a complex hypothalamic involvement. PWS’ clinical picture seems to resemble the classic non-PWS GH deficiency (GHD), including short stature, excessive body fat, decreased muscle mass, and impaired quality of life. GH therapy is able to ameliorate the phenotypic appearance of the syndrome, as well as to improve body composition, physical strength, and cognitive level. In this regard, however, some pathophysiologic and clinical questions still remain, representing a challenge to give the most appropriate care to PWS patients. Data about the prevalence of GHD in PWS children are not unequivocal, ranging from 40% to 100%. In this context, to establish whether the presence (or not) of GHD may have a different effect on clinical course during GH therapy may be helpful. In addition, the comparison of GH effects in PWS children diagnosed as small for gestational age with those obtained in subjects born appropriate for gestational age is of potential interest for future trials. Emerging information seems to demonstrate the maintenance of beneficial effects of GH therapy in PWS subjects after adolescent years. Thus, GH retesting after achievement of final height should be taken into consideration for all PWS patients. However, it is noteworthy that GH administration exerts positive effects both in PWS adults with and without GHD. Another critical issue is to clarify whether the genotype–phenotype correlations may be relevant to specific outcome measures related to GH therapy. Moreover, progress of our understanding of the role of GH replacement and concomitant therapies on bone characteristics of PWS is required. Finally, a long-term surveillance of benefits and risks of GH therapy is strongly recommended for PWS population, since most of the current studies are uncontrolled and of short duration. Keywords: PWS, GH deficiency, GH therapy, transition phase

Abstract Background Mouse brains can contain specific polyglucosan aggregates known as Periodic Acid-Schiff (PAS)-granules. Generated in astrocytes, these granules increase with age and exhibit neo-epitopes of carbohydrate nature that are recognized by natural IgM antibodies (IgMs). The existence of neoepitopes on PAS granules suggests the presence of neoepitopes in other brain structures, and this is investigated here. To this end, brain sections from SAMP8 and ICR-CD1 mice were examined at different ages. Results We have identified two novel structures that, apart from PAS granules, are recognized by natural IgMs. On one side, IgM reactive (IgM+) granular structures which are placed in the longitudinal fissure, the quadrigeminal cistern, and a region that extends from the quadrigeminal cistern to the interpeduncular cistern. This last region, located between the telencephalon and both the mesencephalon and diencephalon, is designated henceforth as the fissura magna, as it is indeed a fissure and the largest in the brain. As all these regions are extraparenchymal (EP), the IgM+ granules found in these zones have been named EP granules. These EP granules are mainly associated with fibroblasts and are not stained with PAS. On the other side, some IgM+ astrocytes have been found in the glia limitans, near the above-mentioned fissures. Remarkably, EP granules are more prevalent at younger ages, while the number of IgM+ astrocytes increases with age, similarly to the already described evolution of PAS granules. Conclusions The present work reports the presence of two brain-related structures that, apart from PAS granules, contain neo-epitopes of carbohydrate nature, namely EP granules and IgM+ astrocytes. We suggest that EP granules, associated to fibroblasts, may be part of a physiological function in brain clearance or brain-CSF immune surveillance, while both PAS granules and IgM+ astrocytes may be related to the increasing accumulation of harmful materials that occurs with age and linked to brain protective mechanisms. Moreover, the specific localisation of these EP granules and IgM+ astrocytes suggest the importance of the fissura magna in these brain-related cleaning and immune functions. The overall results reinforce the possible link between the fissura magna and the functioning of the glymphatic system.

Introdução O Angioedema Hereditario (AEH) associado à deficiência do inibidor de C1 (C1-INH) é uma doença genética rara, debilitante e potencialmente fatal. As crises são imprevisíveis e podem ocorrer espontaneamente ou serem desencadeadas por estresse, trauma, procedimentos cirúrgicos, infecções e medicamentos. No Brasil, o Protocolo Clínico e Diretrizes Terapêuticas do Ministério da Saúde preconiza que o tratamento das crises é predominante hospitalar sem especificar nenhum tratamento medicamento. Todavia, atraso na resolutividade das crises ocasiona maior risco de óbito, aumento nos atendimentos de urgência e hospitalizações, cirurgias desnecessárias e impacto negativo na vida familiar. Neste contexto, afim de prevenir tais desfechos desfavoráveis, a Secretaria Estadual de Saúde do Espírito Santo estabeleceu um programa de assistência aos portadores de AEH e critérios de utilização do medicamento Icatibanto no tratamento das crises. Após 10 anos de implementação deste programa, este trabalho objetiva avaliar as características epidemiológicas dos pacientes atendidos no programa de assistência aos portadores de AEH no ES e a frequência de tratamento com Icatibanto nas crises de AEH. Métodos Estudo observacional retrospectivo, com levantamento de dados clínicos, epidemiológicos, laboratoriais e dos atendimentos em emergência de pacientes com diagnóstico de AEH cadastrados no programa de assistência aos pacientes com AEH da SESA/ES no período de 2012 à 2022. Resultados No período estudado foram diagnosticados 137 pacientes com AEH, sendo todos cadastrados no centro de referência ambulatorial. Desses, 117 (85,4%) com AEH por deficiência quantitativa do C1-INH, 8 (5,8%) com AEH por deficiência funcional de C1-INH e 12 (8,8%) com AEH com C1-INH normal, por variantes no gene F12. A idade variou de 7 a 97 anos (média: 40 anos) e 74 (54%) eram do sexo feminino. O tempo entre o início dos sintomas e o diagnóstico variou de 1 a 48 anos (média: 14,7 anos). Nos 10 anos de programa, 81 pacientes (59,1%) apresentaram 822 crises que necessitaram atendimento em emergência para aplicação de icatibanto. O tratamento das crises foi estabelecido em serviços de referência hospitalares a partir da geodistribuição dos casos diagnosticados afim agilizar o acesso. A localização de crise mais comum foi a abdominal (40%), seguida de face (27%), extremidades (26%) e laringe (13%). Quanto ao número de crises/ano/paciente, 48% apresentaram 1 crise/ano, 36% 2 a 5 crises/ano e 16% mais de 5 crises/ano. A maioria das crises (95%) necessitou de apenas uma dose do icatibanto para controle do edema. Nenhum paciente necessitou de intubação, hospitalização ou evoluiu para óbito. Faziam tratamento preventivo de crises com danazol ou ácido tranexâmico 67,9% desses pacientes. Discussão e conclusões A implantação de um centro de referência estadual para paciente com AEH realizando triagem dos familiares, mesmo em assintomáticos, contribuiu para o diagnóstico e recomendações de manejo da doença. O acesso otimizado ao tratamento das crises utilizando o medicamento icatibanto em referências hospitalares não registrou nenhum óbito por edema de laringe e cirurgias abdominais por suspeita de abdômen agudo. A frequência de crises dos pacientes diagnósticos neste programa estadual demonstra a necessidade de implementação de políticas de saúde voltadas para esta doença rara, especialmente no tratamento das crises.

Background: Medical students are at high risk for mental disorders, and the COVID-19 pandemic might have exacerbated psychological distress. However, no data are available for the southern part of Italy. The SMS-ME (Sicilian Medical Students’ MEntal health) project aimed to estimate the prevalence of and predictors of depression, anxiety, stress, and suicidal ideation in a sample of Sicilian medical students. Methods: A web-based cross-sectional survey was carried out from September 2022 to December 2022. The study protocol investigated sociodemographic factors and clinical data including Depression, Anxiety, Stress Scale-21 (DASS-21), and a specific question addressing suicidal ideation frequency over the last six months. Multivariate regression models were assessed to examine the association between symptoms and relevant predictors and then regressed their residuals with suicidal thought frequency. Result: We collected 1,866 records (age=22.5, SD=3.4; 65.2 % females). One out of four students presented highly severe depression (25 %) and referred to the presence of some suicidal ideation in the six months preceding the interview (26.1 %). DASS-21 scores, especially depression (F(5, 1,828)=58.8, p = 6.59–57), increasingly predicted the frequency of suicidal thoughts when above the sample's mean. Limitations: The cross-sectional study design does not allow inferences on temporal relationships and the self-report strategy could be intrinsically biased by the person's feelings at the time of the interview. Conclusions: High prevalence of anxiety and depressive symptoms and suicidal thoughts were observed among Sicilian medical students. The DASS-21 was a good predictor for suicidal ideation that Universities could use as a simple tool to assess the need for psychological healthcare in this population.

BackgroundEchocardiography is essential in cardiovascular medicine for screening, diagnosis, and monitoring. Artificial intelligence (AI) has the potential to improve echocardiography by reducing variability and analysis time. While 3D echocardiography is becoming more accurate, 2D imaging still dominates clinical care. We aimed to evaluate agreement in measures of left ventricular (LV) volumes and function between human readers, a fully automated AI 2D algorithm, and the 3D Heart Model.MethodsA retrospective analysis was conducted on 109 patients who underwent 2D and 3D transthoracic echocardiography. LV end-diastolic and end-systolic volumes (LVEDV, LVESV) and ejection fraction (LVEF) were measured by two operators, a commercially available AI algorithm (US2ai), and the 3D Heart Model. Global longitudinal strain (GLS) was measured by the integrated semi-automated software and the AI algorithm. Outcomes included measures of agreement [bias, limit of agreement and Pearson's correlation (R)]ResultsFor LV volume measurements, the AI algorithm was strongly correlated with the average of the human operators (r = 0.89 for LVEDV and r = 0.92 for LVESV), which was higher than between the operators (r = 0.74 and r = 0.84, respectively, p

Background: Pediatric palliative care (CPP) is defined as active and holistic care of the child's body, mind and spirit, actively supporting the centrality and role of the family. They have as their primary objective the improvement of the quality of life of children and their families, supporting them in treatment choices. CPPs should be planned at the time of diagnosis, in order to be able to initiate the patient and family early on to a type of care that responds to the multiple needs that the situation entails, without precluding concomitant curative therapy. In fact, it has been shown that they are all the more effective the earlier they are integrated into the child's treatment plan. However, despite the international recognition of CPPs as an integral part of the right to health, implementation and effective access to such services remain limited in many contexts, including Italy. challenges to CPPs integration are multiple and include the complexity of clinical conditions, lack of training of healthcare professionals, regulatory and regional politicy issues, and socio-cultural barriers. Aim: The primary aim of this scoping review is to investigate the current landscape of PPCs for children and young people with life-limiting non-oncological conditions in Italy and worldwide in terms of benefits, eligibility, impact on the family and the barriers associated with treatment. Materials and method: A scoping review was performed between September 2023 and January 2024 following the PRISMA guidelines using the keywords “pediatric palliative care” AND “chronic disease/barrier/eligibility/parents. Results: Ten full-text articles met the inclusion criteria. The major studies were quantitative, cross sectional. The finding demonstrates that early inclusion of complex chronic non-oncological patients in palliative care programs leads to greater patient and family satisfaction, reducing emotional burden and improving communication and treatment planning. Parents experience stress and financial difficulties. Parent psychological distress was associated with parent-reported patient symptoms and financial difficulty. Major challenges include the lack of support networks and training in palliative care, along with legal and economic issues. Conclusions: While there is growing recognition of the importance of CPP, further efforts are needed to address challenges in accessing and integrating services, as well as meeting the needs of patients, families and healthcare professionals working in this field. Improving knowledge and awareness about CPP can help overcome barriers to accessing services and improve the quality of care provided to pediatric patients and their families.

BackgroundSarcopenic obesity (SO) is a clinical disorder characterized by increased adiposity and decreased muscle mass and function, commonly observed in older adults. However, most of the studies that investigated SO prevalence rates were not based on current standardized diagnostic methods. Thus, this study aims to estimate the prevalence rates of SO and their level of agreement using different instruments proposed by the European Society for Clinical Nutrition and Metabolism (ESPEN) and the European Association for the Study of Obesity (EASO) Consensus, in a sample of hospitalized older adults with severe obesity.MethodsA cross-sectional study with 90 older adults (≥ 60 years) with severe obesity (body mass index ≥ 35 kg/m/²) seeking an in-hospital multidisciplinary body weight reduction program. Skeletal muscle function was assessed using the five-repetition Sit-Stand test (5-SSt) and Handgrip Strength (HGS). Body composition was evaluated by high percentages of fat mass (FM), low appendicular lean mass (ALM/W), and skeletal muscle mass (SMM/W), adjusted to body weight. The stage of SO was assessed on the presence of at least one comorbidity and specific cut-offs were adopted for each step. All analyses were performed according to gender and age range.ResultsThe prevalence rates of SO in the total sample were 23.3%, 25.5%, 31.1%, and 40.0% considering altered values of 5-SSt+FM+ALM/W, HGS+FM+ALM/W, 5-SSt+FMSSM/W, and HGS+FM+SSM/W, respectively. Higher prevalence rates were observed among female and old elderly subgroups, regardless of the diagnostic combination. There were weak agreements between the muscle function tests (5-SSt versus HGS) using both muscle mass indexes in the total sample and all subgroups. Moderate agreements were observed between muscle mass indexes (SMM/W versus ALM/W) in the total sample, male and younger older adults (using 5-SSt), and strong agreements for men and younger older adults (using HGS).ConclusionThe discrepancies observed between the prevalence rates and their levels of agreement reinforce the need for new studies in similar populations aiming for better standardization of SO assessment.

IntroductionPrader-Willi syndrome (PWS) is a rare disease, which shows a peculiar clinical phenotype, including obesity, which is different from essential obesity (EOB). Metabolomics might represent a valuable tool to reveal the biochemical mechanisms/pathways underlying clinical differences between PWS and EOB. The aim of the present (case-control, retrospective) study was to determine the metabolomic profile that characterizes PWS compared to EOB.MethodsA validated liquid chromatography-tandem mass spectrometry (LC-MS/MS) targeted metabolomic approach was used to measure a total of 188 endogenous metabolites in plasma samples of 32 patients with PWS (F/M = 23/9; age: 31.6 ± 9.2 years; body mass index [BMI]: 42.1 ± 7.0 kg/m2), compared to a sex-, age- and BMI-matched group of patients with EOB (F/M = 23/9; age: 31.4 ± 6.9 years; BMI: 43.5 ± 3.5 kg/m2).ResultsBody composition in PWS was different when compared to EOB, with increased fat mass and decreased fat-free mass. Glycemia and HDL cholesterol were higher in patients with PWS than in those with EOB, while insulinemia was lower, as well as heart rate. Resting energy expenditure was lower in the group with PWS than in the one with EOB, a difference that was missed after fat-free mass correction. Carrying out a series of Tobit multivariable linear regressions, adjusted for sex, diastolic blood pressure, and C reactive protein, a total of 28 metabolites was found to be associated with PWS (vs. non-PWS, i.e., EOB), including 9 phosphatidylcholines (PCs) ae, 5 PCs aa, all PCs aa, 7 lysoPCs a, all lysoPCs, 4 acetylcarnitines, and 1 sphingomyelin, all of which were higher in PWS than EOB.ConclusionsPWS exhibits a specific metabolomic profile when compared to EOB, suggesting a different regulation of some biochemical pathways, fundamentally related to lipid metabolism.

Objectives To investigate the time course of medication adherence and some of the factors involved in this process in undocumented migrants with chronic diseases.Design Retrospective cohort study.Setting A big non-governmental organisation in Milano, Italy, giving medical assistance to undocumented migrants.Participants 1918 patients, 998 females and 920 males, with at least one chronic condition (diabetes, cardiovascular diseases (CVDs), mental health disorders) seen over a period of 10 years (2011–2020). Their mean age was 49.2±13 years.Results Adherence to medications decreased over 1 year in all patients. This was more evident during the first 2 months of treatment. Patients on only one medication were less adherent than those on more than one medication; at 6 months the percentage of patients with high adherence was 33% vs 57% (p

ABSTRACT: This study aimed to prepare and characterize Nile tilapia (Oreochromis niloticus) waste meal. The experimental design consisted of three treatments (carcass meal, mechanically separated meat meal - MSM, and head meal) and five replications of each treatment. Yield, microbiological quality, pH, water activity, proximate composition, energy value, mineral composition, fatty acid profile, amino acid composition, color, and particle size fractions and the geometric mean particle diameter (GMD) analyses were performed. Data were subjected to ANOVA, and means were compared by Tukey’s test at P < 0.05. Carcass, mechanically separated meat, and head meals had a protein content of 56.45%, 78.60%, and 50.33%, respectively, a lipid content of 7.16%, 13.15%, and 4.58%, respectively, and an ash content of 32.61%, 4.26%, and 38.41%, respectively. The mean yield of fish waste meals was 13%. Oleic, palmitic, and linoleic acids were the major fatty acids in the three fish waste meals, and glutamic acid, leucine, lysine, and glycine were the major amino acids. Color analysis showed that lightness (L*) ranged from 55.32 to 77.19, redness (a*) from 4.44 to 4.88, and yellowness (b*) from 4.13 to 9.51. The GMD ranged from 0.37 to 0.99 mm. The results indicate that Nile tilapia waste meals have high nutritional value and adequate pH, water activity, and microbiological quality for use in human nutrition.

Abstract Background Although it is well known that obesity is frequently associated with reduced levels of habitual physical activity (HPA), which contributes to determining severe oxidative stress and inflammatory state, this association is however unknown in preschoolers so far. This study aimed to investigate the association between biomarkers of redox status and cytokines with different patterns of HPA according to the adiposity of preschoolers. Methods A cross-sectional study was conducted in 50 preschoolers (25 overweight/obese, OW/OB and 25 eutrophic, EU), matched for age, sex, economic level, and maternal education. Total antioxidant capacity (TAC), superoxide dismutase (SOD) and catalase (CAT) activities, substances reactive to thiobarbituric acid (TBARS), soluble tumor necrosis factor receptors (sTNFRs), and leptin levels were evaluated. HPA levels were evaluated by accelerometry (ActiGraph GT9X accelerometer). Correlation, multiple linear regression, and partial least squares regression analysis were used to determine the association between redox status biomarkers and cytokines with different patterns of HPA (HPA level, bouts of moderate to vigorous physical activity [MVPA], and multivariate pattern of HPA) in EU and OW/OB preschoolers. Results OW/OB preschoolers had lower CAT activity, higher levels of TAC, TBARS, and cytokines, and similar levels of HPA to EU preschoolers. In EU preschoolers, SOD activity exhibited a stronger negative association with moderate intensity ranges of HPA (R2 = 0.18), and negative correlation with sTNFRs (r = -0.40 to -0.46). TBARS had a stronger positive association with ranges of light intensity in the multivariate pattern of HPA (R2 = 0.10). In OW/OB preschoolers, the HPA multivariate associative pattern was predominantly from vigorous intensity ranges. Thus, SOD activity had a positive association with the multivariate pattern of HPA (R2 = 0.38) and MVPA bouts (β [95% CI] = 0.457 [0.0026. 0.0576]). TAC had a negative association with the multivariate pattern of HPA (R2 = 0.38) and MVPA bouts (β [95% CI] = -0.718 [-0.0025. -0.0003]). Additionally, leptin levels were lower in OW/OB preschoolers engaged in vigorous physical activity (VPA) (8000–9999 counts/min) for longer periods of time. Conclusion The results of this study indicate that OW/OB preschoolers have higher levels of oxidative stress biomarkers and pro-inflammatory cytokines compared to EU preschoolers. Moreover, VPA may exert antioxidative and anti-inflammatory effects in OW/OB preschoolers.

Abstract Obesity is frequently associated with breathing disorders. To investigate if and how the highest levels of obesity impact respiratory function, 17 subjects with obesity (median age: 49 years; BMI: 39.7 kg/m2, 8 females) and 10 normal-weighted subjects (49 years; 23.9 kg/m2, 5 females) were studied. The abdominal volume occupied 41% in the obese group, being higher (p

Abstract This study aimed to investigate the effects of combined training (COMB, a combination of moderate-intensity continuous training-MICT and high-intensity interval training-HIIT) vs. continuous MICT administered during a 3-week in-hospital body weight reduction program (BWRP) on body composition, physical capacities, and substrate oxidation in adolescents with obesity. The 3-week in-hospital BWRP entailed moderate energy restriction, nutritional education, psychological counseling, and two different protocols of physical exercise. Twenty-one male adolescents with obesity (mean age: 16.1 ± 1.5 years; mean body mass index [BMI] 37.8 ± 4.5 kg m−2) participated in this randomized control trial study (n:10 for COMB, n:11 MICT), attending ~ 30 training sessions. The COMB group performed 3 repetitions of 2 min at 95% of peak oxygen uptake (V′O2 peak) (e.g., HIIT ≤ 20%), followed by 30 min at 60% of V′O2 peak (e.g., MICT ≥ 80%). Body composition, V′O2 peak, basal metabolic rate (BMR), energy expenditure, and substrate oxidation rate were measured during the first week (W0) and at the end of three weeks of training (W3). The two training programs were equivalent in caloric expenditure. At W3, body mass (BM) and fat mass (FM) decreased significantly in both groups, although the decrease in BM was significantly greater in the MICT group than in the COMB group (BM: − 5.0 ± 1.2 vs. − 8.4 ± 1.5, P

This article details a correction to: Röseler, L., Weber, L., Helgerth, K., Stich, E., Günther, M., Tegethoff, P., … Schütz, A. (2022). The Open Anchoring Quest Dataset: Anchored Estimates from 96 Studies on Anchoring Effects. Journal of Open Psychology Data, 10(1), 16. DOI: https://doi.org/10.5334/jopd.67