Search

Barakat syndrome, also called HDR syndrome, is a rare genetic disorder encompassing hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R). A 64-year-old woman was referred to our endocrinology clinic for a switch in treatment (from dihydrotachysterol to calcitriol). She had progressive sensorineural deafness since the age of 18 and idiopathic hypoparathyroidism diagnosed at age of 36. Her medical history included osteoporosis with hip/spine fractures, nephrolithiasis and a family history of hearing loss, osteoporosis and kidney disease. The patient’s clinical presentation indicated Barakat syndrome. Genetic analysis found a GATA3:c.916C>T nonsense variant. Further tests such as audiometry, labs and renal imaging supported the diagnosis. Due to rarity and manifold symptoms, diagnosis can be challenging. Optional GATA3 testing was suggested in 2018, except in cases of isolated sensorineural deafness or renal disease with pertinent family history. In isolated ‘H’ cases without ‘D’ and ‘R’, GATA3 studies are not required, as no haploinsufficiency cases were reported. Given the rise in genetic disorders, physicians should consistently consider rare genetic disorders in patients with suggestive symptoms, even decades after onset. Although diagnosis might not always impact management directly, it aids patients in accepting their condition and has broader family implications.

Craniosynostoses (CRS) are caused by the premature fusion of one or more cranial sutures, with isolated nonsyndromic CRS accounting for most of the clinical manifestations. Such premature suture fusion impacts both skull and brain morphology and involves regions far beyond the immediate area of fusion. The combined use of different neuroimaging tools allows for an accurate depiction of the most prominent clinical–radiological features in nonsyndromic CRS but can also contribute to a deeper investigation of more subtle alterations in the underlying nervous tissue organization that may impact normal brain development. This review paper aims to provide a comprehensive framework for a better understanding of the present and future potential applications of neuroimaging techniques for evaluating nonsyndromic CRS, highlighting strategies for optimizing their use in clinical practice and offering an overview of the most relevant technological advancements in terms of diagnostic performance, radiation exposure, and cost-effectiveness.

Nel contesto contemporaneo, la sinergia tra design e intelligenza artificiale (IA) si sta sviluppando come un campo di crescente rilevanza. L'IA, tradizionalmente associata a settori come la robotica, la medicina e la finanza, sta ora mostrando un impatto significativo anche nell'ambito del design, in particolare nell'interior design. L'adozione di tecnologie avanzate e algoritmi di machine learning consente di ampliare le capacità creative e funzionali dei progettisti, facilitando processi più efficienti e innovativi. Questo articolo esplora l'intersezione tra design e intelligenza artificiale, fornendo una panoramica del ruolo attuale dell'IA nell'interior design, il suo potenziale futuro e le prospettive di integrazione. Si cercherà di dimostrare come queste due discipline possano lavorare in sinergia, influenzandosi reciprocamente e plasmando nuove modalità di progettazione.

Abstract Marine forests are shrinking globally due to several anthropogenic impacts including climate change. Forest-forming macroalgae, such as Cystoseira s.l. species, can be particularly sensitive to environmental conditions (e.g. temperature increase, pollution or sedimentation), especially during early life stages. However, not much is known about their response to the interactive effects of ocean warming (OW) and acidification (OA). These drivers can also affect the performance and survival of crustose coralline algae, which are associated understory species likely playing a role in the recruitment of later successional species such as forest-forming macroalgae. We tested the interactive effects of elevated temperature, low pH and species facilitation on the recruitment of Cystoseira compressa. We demonstrate that the interactive effects of OW and OA negatively affect the recruitment of C. compressa and its associated coralline algae Neogoniolithon brassica-florida. The density of recruits was lower under the combinations OW and OA, while the size was negatively affected by the temperature increase but positively affected by the low pH. The results from this study show that the interactive effects of climate change and the presence of crustose coralline algae can have a negative impact on the recruitment of Cystoseira s.l. species. While new restoration techniques recently opened the door to marine forest restoration, our results show that the interactions of multiple drivers and species interactions have to be considered to achieve long-term population sustainability.

IntroductionPediatric diffuse midline gliomas (DMG), H3 K27- altered, are the most aggressive pediatric central nervous system (CNS) malignancies. Disease outcome is dismal with a median survival of less than one year. Extra-neural metastases are an unusual occurrence in DMG and have been rarely described.Methods and resultsHere, we report on two pediatric patients affected by DMG with extra-neural dissemination. Their clinical, imaging, and molecular characteristics are reported here. An 11-year-old male 5 months after the diagnosis of diffuse intrinsic pontine glioma (DIPG) developed metastatic osseous lesions confirmed with computed tomography (CT) guided biopsy of the left iliac bone. The patient died one month after the evidence of metastatic progression. Another 11-year-old female was diagnosed with a cerebellar H3K27- altered DMG. After six months, she developed diffuse sclerotic osseous lesions. A CT-guided biopsy of the right iliac bone was non-diagnostic. She further developed multifocal chest and abdominal lymphadenopathy and pleural effusions. Droplet digital polymerase chain reaction (ddPCR) on pleural effusion revealed the presence of H3.3A mutation (c.83A>T, p.K28M). The patient died 24 months after the diagnosis of DMG and 3 months after the evidence of metastatic pleural effusion.DiscussionExtra-neural metastasis of DMG is a rare event and no standard therapy exists. An accurate and early diagnosis is necessary in order to develop a personalized plan of treatment. Further research is needed to gain further insights into the molecular pathology of DMG, H3K27- altered and improve the quality of life and the final outcome of patients with this deadly disease.

Introduction NES is characterized by daytime anorexia, sleep difficulties with nocturnal food intake, resulting in obesity (Stunkard et al. Am J of Med. 1955; 19 78-86). Alexithymia refers to the impairment in recognizing and describing feelings. The impairment in distinguishing emotions from body sensations may lead patients to confuse emotional arousal with physical hunger (Sifneos et al. Mod. trends psychosom. med. 1976; 3 430-439). This mechanism could lead to nocturnal food intake. Alexithymia was firstly described in BED and was related to BED severity. Objectives To our knowledge no studies have investigated the relationship between alexithymia and NES. The aim of the present study was to assess alexithymia in patients with NES, to improve surgical and nutritional outcomes. Methods 110 patients with clinical diagnosis of NES admitted to the Eating Disorder Unit, between 2013 and 2022 underwent psychiatric assessment for bariatric surgery. Clinical assessment consisted of clinical interview and the following psychometric rating scales: 20-item Toronto Alexithymia Scale; Eating Disorder Inventory 2, specifically the Interoceptive Awareness subscale; Barratt Impulsiveness Scale; Binge Eating Scale. Results The mean BES score was 24.14(SD 8.23), computed on 107 patients, of which 16 (14.5%) had no or minimal binge eating problems and 91 (82.7%) had moderate-severe binge eating problems. The mean TAS total score was 55.11(12.92), computed on 103 patients. 42 patients had a TAS-20 total score ≤50 and were categorized as non-alexithymic, and 61 had a TAS-20 total score >50 and were categorized as alexithymic. Simple linear regression was used to test if TAS-20 total score significantly predicted EDI-IA in the whole sample (97 patients). The overall regression was statistically significant (R2=0.27, F(1,96)=35.46, p< .001) and TAS total score significantly predicted EDI-IA score (β=0.519, p

Introduction Several studies show a negative impact of mass media contents on adolescents’ mental health, especially on perceived body uneasiness. COVID-19 lockdown determined an increased use of social networks (SN). Psychiatrists highlighted an increase in Eating Disorders’ (ED) diagnoses. Objectives The aim of this study is to assess the pattern of SN use in patients with ED using a self-administered questionnaire. Methods 30 patients with clinical diagnosis of ED (Anorexia nervosa, Bulimia nervosa or Binge eating disorder) admitted to the ED unit, underwent clinical assessment, and filed a questionnaire on SN use. The questionnaire assesses time spent on SN, weight-control apps use, exposure to fitness- or food-related contents and to ED-promoting contents, distractibility, weight changes and feeling of body uneasiness. Results Mean age was 20.63 (SD 4.71), mean BMI 20.24 (SD 5.27); 93.3% (28) of patients were females. Eating behaviours were divided into restrictive type (66.7%, 20) or binge/bulimic (33.3%, 10). 16.7% (5) of patients reported self-injury behaviours. In 46.7% (14) of cases, the onset of the ED occurred during COVID-19 pandemic; the remaining 53.3% (16) experienced a relapse of a previous ED during this period. 66.7% (20) of subjects reported an increased use of social media and fitness apps. 90% (27) experienced weight changes during the pandemic, with 76.7% (23) seeking nutritional or psychological interventions. 53.3% (16) perceived an increase in body- or food-related contents on their SN feeds, with 50% declaring of knowing the meaning of the terms pro-ana and pro-mia. Table 1 displays reported answers to the questionnaire. Table 2 shows mean age of patients according to self-injury behaviours and to the onset time of ED. Table 1. Questionnaire subscales (n) Rarely occurred % (n) Often occurred % (n) Increase of time spent on SNs (30) 33.3% (10) 66.7% (20) Distractibility (30) 70% (21) 30% (9) Self-injury contents (30) 96.7% (1) 3.3% (29) Body uneasiness (30) 26.7% (8) 73.3% (22) Pro-ana/pro-mia contents influence (15) 53.3% (8) 46.7% (7) Body- and food-related contents influence (30) 20% (6) 80% (24) Table 2. Eating disorders features (n) Mean age (SD) Self-injury – Yes (5) 18.20 (1.92) p

Congenital hydrocephalus and ventriculomegaly can be diagnosed reliably with prenatal ultrasound and Magnetic Resonance Imaging (MRI). Unilateral hydrocephalus is uncommon, and the prognosis depends on etiology and postnatal management. Here, we present a case of a 32-years-old woman with prenatal diagnosis of unilateral hydrocephalus associated with stenosis of the foramen of Monro. Unilateral hydrocephalus is an uncommon feature that can be detected prenatally on ultrasound and MRI. In case of isolated stenosis of the foramen of Monro prognosis is good.

Background: Harmful in-hospital falls with subsequent injuries often cause longer stays and subsequently higher costs. Early identification of fall risk may help in establishing preventive strategies. Objective: To assess the predictive ability of different clinical scores including the Post-acute care discharge (PACD) score and nutritional risk screening score (NRS), and to develop a new fall risk score (FallRS). Methods: A retrospective cohort study of medical in-patients of a Swiss tertiary care hospital from January 2016 to March 2022. We tested the ability of the PACD score, NRS and FallRS to predict a fall by using the area under curve (AUC). Adult patients with a length of stay of ≥ 2 days were eligible. Results: We included 19,270 admissions (43% females; median age, 71) of which 528 admissions (2.74%) had at least one fall during the hospital stay. The AUC varied between 0.61 (95% confidence interval (CI), 0.55–0.66) for the NRS and 0.69 (95% CI, 0.64–0.75) for the PACD score. The combined FallRS score had a slightly better AUC of 0.70 (95% CI, 0.65–0.75) but was more laborious to compute than the two other scores. At a cutoff of 13 points, the FallRS had a specificity of 77% and a sensitivity of 49% in predicting falls. Conclusions: We found that the scores focusing on different aspects of clinical care predicted the risk of falls with fair accuracy. A reliable score with which to predict falls could help in establishing preventive strategies for reducing in-hospital falls. Whether or not the scores presented have better predictive ability than more specific fall scores do will need to be validated in a prospective study.

Gli ultimi due anni contrassegnati dagli accadimenti collegati alla pandemia da Covid-19, hanno modificato e, il più delle volte, rivoluzionato molti aspetti delle nostre vite, in special modo quelli legati agli ambiti lavorativi. La necessità di limitare i contatti “dal vivo” ha portato a sviluppare in modo esponenziale gli aspetti legati al lavoro telematico, allo “smart working”, in tutte le sue fasi, dall’ottenere un incarico o una attività, allo svolgimento della stessa. Ciò ha comportato una sostanziale modifica degli aspetti di presentazione delle proprie capacità e attitudini lavorative, in altre parole la realizzazione di un portfolio personale non cartaceo.

The study reports the enzymatic synthesis of bio-based oligoesters and chemo-enzymatic processes for obtaining epoxidized bioplasticizers and biolubricants starting from cardoon seed oil. All of the molecules had MW below 1000 g mol−1 and were analyzed in terms of marine biodegradation. The data shed light on the effects of the chemical structure, chemical bond lability, thermal behavior, and water solubility on biodegradation. Moreover, the analysis of the biodegradation of the building blocks that constituted the different bio-based products allowed us to distinguish between different chemical and physicochemical factors. These hints are of major importance for the rational eco-design of new benign bio-based products. Overall, the high lability of ester bonds was confirmed, along with the negligible effect of the presence of epoxy rings on triglyceride structures. The biodegradation data clearly indicated that the monomers/building blocks undergo a much slower process of abiotic or biotic transformations, potentially leading to accumulation. Therefore, the simple analysis of the erosion, hydrolysis, or visual/chemical disappearance of the chemical products or plastic is not sufficient, but ecotoxicity studies on the effects of such small molecules are of major importance. The use of natural feedstocks, such as vegetable seed oils and their derivatives, allows the minimization of these risks, because microorganisms have evolved enzymes and metabolic pathways for processing such natural molecules.

The article presents the OLESchool research, which conducted a feasibility study aimed at the definition of an integrated learning ecosystem model in which the school system becomes the focus of an open learning environment. The research considered the criticalities, priorities and limitations related to the pandemic event, highlighting the resources and opportunities generated, and aimed to identify those success factors and criteria for building prototypes and hypotheses of expected results to be implemented at a subsequent stage. The research adopted a collaborative approach starting with the stakeholder engagement process. The research team applied a methodological design inspired by the Grounded Theory paradigm, studying the phenomenon holistically from different points of view with qualitative-quantitative parallel research phases and triangulation between researchers, theories, data and tools. The contribution presents the results, distinguished between output and outcome of the research. Ecosistemi educativi: un modello di ricerca applicato in quattro territori della Toscana. Il contributo presenta la ricerca OLESchool che ha visto la realizzazione di uno studio di fattibilità volto alla definizione di un modello di ecosistema formativo integrato dove il sistema scolastico diventa fulcro di un ambiente di apprendimento aperto. Sono state tenute in considerazione criticità, priorità e vincoli relativi all’evento pandemico, facendo emergere le risorse e le opportunità scaturite e puntando all’individuazione di quei fattori di successo e criteri di costruzione di prototipi e ipotesi di risultati attesi da implementare in una fase successiva. La ricerca ha seguito un approccio di tipo collaborativo a partire dal processo di stakeholder engagement. È stato adottato un disegno metodologico ispirato al paradigma della Grounded Theory, studiando il fenomeno in modo olistico da punti di vista differenti, con fasi di ricerca parallele quali-quantitative e trasversali di triangolazione tra ricercatori, teorie, dati e strumenti. Nel contributo sono presentati i risultati distinti tra output e outcome della ricerca.

BackgroundCranioplasty (CP) is a surgical intervention aiming to re-establish the integrity of skull defects. Autologous bone and different heterologous materials are used for this purpose, with various reported related complications, especially in children.This study aims to evaluate the rate of complication in a multicentric cohort of pediatric patients treated by porous hydroxyapatite (PHA) CP implantation and to assess the reliability of post-marketing clinical data collected by a manufacturing company.MethodsThe authors proactively collected clinical data from 20 institutions in different European countries for patients under the age of 16 treated with a PHA implant. The data were obtained by conducting an on-site interview with physicians in charge of the patients (Post-Marketing Surveillance, PMS group). The endpoints were the incidence of adverse events and related implant removal. The clinical data were compared to the company-based register including all patients under the age of 16 who received the same implant from January 1, 2004 to December 31, 2020, and the collecting complications voluntarily reported by surgeons (Database, DB group).ResultsThe two groups were similar in terms of demographic characteristics and rate of complications. In the PMS group, a total of 11 (16.9%) complications were reported in the group of 65 patients that were proactively collected. Both fractures and infections were the most common complications with 4 cases each (6.2%). In the case of both infections and fractures, revision surgery was required for only one patient (1.5%). Three (4.5%) cases of displacements were reported, and in one (1.5%) case, a surgical revision was required, for a total of 3 (4.5%) cases requiring surgical revision. The average follow-up was 26.7 months.ConclusionsDifferent from a previous study on adult age, pediatric neurosurgeons are more prone to report even to the manufacturing company complications related to skull reconstruction in children. Therefore, these data can be compared with those of other clinical studies. The PHA CP in this series of 65 patients presents a complication rate collected on-site that is similar to other heterologous materials.

ObjectiveA single-institution cohort of 92 consecutive pediatric patients harboring tumors involving the fourth ventricle, surgically treated via the telovelar or transvermian approach, was retrospectively reviewed in order to analyze the impact of surgical route on surgery-related outcomes and cumulative survival.MethodsClinical, radiological, surgical, and pathology details were retrospectively analyzed. We selected n = 6 surgery-related clinical and radiological outcomes: transient and permanent neurological deficits, duration of assisted ventilation, postoperative new onset medical events, postoperative cerebellar mutism, and extent of resection. We built univariate and multivariate logistic models to analyze the significance of relationships between the surgical routes and the outcomes. Cumulative survival (CS) was estimated by the cohort approach.ResultsThere were 53 girls and 39 boys (mean age, 83 months). Telovelar approach was performed in 51 cases and transvermian approach in 41 cases. Early postoperative MRI studies showed complete removal in 57 cases (62%) and measurable residual tumor in 35 cases (38%). The average tumor residual volume was 1,316 cm3 (range, 0.016–4.231 cm3; median value, 0.9875 cm3). Residual disease was more often detected on immediate postop MRI after telovelar approach, but the difference was not significant. Cerebellar mutism was observed in 10 cases (11%). No significant difference in the onset of cerebellar mutism was detected between telovelar and transvermian approach. The choice of surgical approach did not significantly modify any other postoperative outcome and 1-/3-year CS of high-grade surgically treated tumors.ConclusionsWith the limitation of a single-center, single-surgeon retrospective series, our findings offer significant data to reconsider the real impact of the choice of the surgical route to the fourth ventricle on the incidence of cerebellar mutism and surgery-related morbidity. This seems to be in line with some recent reports in the literature. Surgical approach to the fourth ventricle should be individualized according to the location of the tumor, degree of vermian infiltration, and lateral and upward extension. Telovelar and transvermian approaches should not be considered alternative but complementary. Pediatric neurosurgeons should fully master both approaches and choose the one that they consider the best for the patient based on a thorough and careful evaluation of pre-operative imaging.

Background: Physical restraints are frequently used in acute care hospitals. Their application is associated with negative outcomes, while their intended preventive effect is debated. Objectives: To determine the prevalence of physical restraints and associated outcomes on medical wards in a tertiary care hospital. Methods: Retrospective cohort study (January 2018 to December 2021). We included all adult medical in-patients and excluded patients with admission to the intensive care unit, short stays (length of stay (LOS) < 48 h), and patients declining informed consent. Results: Of 11,979 admissions, the prevalence of patients with at least one restraint was 6.4% (n = 772). Sensor mats were used most frequently (73.0%, n = 666), followed by blanket restrictions (14.5%, n = 132), bedrails (8.8%, n = 80) and belts (3.7%, n = 34). On average, restraints were applied 19 h (standard deviation (SD) ± 161) before a fall. Average restraint duration was 42 h (SD ± 57). Patients with a restraint had longer LOS 8 days (IQR 5–14) vs. 5 days (IQR 3–9). Median nurses’ time expenditure was 309 h (IQR 242–402) vs. 182 h (IQR 136–243) for non-restrained patients. Patients with restraints fell more often (22.5% vs. 2.7%) and were more likely to die (13.3% vs. 5.1%). These differences persisted after adjusting a regression model for important clinical confounders. We saw a decline in the duration of restraints over the years, but no variation between wards. Conclusion: Approximately 6% of medical patients, mostly older and severely ill, were affected by restraint use. For the first time, we report data over 4 years up to ward-level granularity.

Marine noise is an emerging pollutant inducing a variety of negative impacts on many animal taxa, including fish. Fish population persistence and dynamics rely on the supply of early life stages, which are often very sensitive to disturbance. Impacts of marine noise pollution (MNP) on juvenile fish have rarely been investigated in temperate regions. This is particularly true for the Mediterranean Sea, which is considered as an MNP hotspot due to intensive maritime traffic. In this study, we investigate the relationship between MNP related to boat traffic and (i) assemblage structure and (ii) the density of juvenile fishes (post-settlers at different stages) belonging to the Sparidae family. We quantified MNP produced by boating at four coastal locations in the French Riviera (NW Mediterranean Sea) by linearly combining five variables into a ‘noise index’ (NI): (i) boat visitation, (ii) number of boat passages/hour, (iii) the instantaneous underwater noise levels of passing boats, (iv) continuous boat underwater noise levels and (v) duration of exposure to boat noise. Then, using the NI, we identified an MNP gradient. By using juvenile fish visual censuses (running a total of 1488 counts), we found that (i) the assemblage structure and (ii) the density patterns of three fish species (i.e., Diplodus sargus, D. puntazzo, D. vulgaris) changed along the MNP gradient. Specifically, the density of early D. sargus post-settlers was negatively related to MNP, while late post-settler densities of D. puntazzo and, less evidently, D. vulgaris tended to decrease more rapidly with decreasing MNP. Our findings suggest the following potential impacts of MNP on juvenile sparids related to coastal boat traffic: (i) idiosyncratic effects on density depending on the species and the developmental stage (early vs. late post-settlers); (ii) negative effects on recruitment, due to possible alteration of late post-settlement movement patterns.