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Background: The detection of deficiencies in B12 and folate children is important. However, despite the availability of various markers to assess B12 and folate metabolism, there are limited studies describing the reference intervals (RIs) and changes during growth and development for these markers in healthy children. Methods: Using samples collected from 378 children aged 30 days–< 18 years, we derived continuous RIs for holotranscobalamin, homocysteine and red cell folate. Results: The lower RI for holotranscobalamin was lowest at birth, rising during early childhood and then declining following ages 4–6 years whereas red cell folate was highest early in life and then declined steadily towards adulthood. Total homocysteine, reflective of both B12 and folate status was elevated early in life, reaching a nadir at age 2 and then increasing towards adulthood. Conclusions: Continuous central 95th percentile RI for holotranscobalamin, homocysteine and red cell folate for children ages 30 days to <18 years were established. Each marker shows dynamic changes throughout childhood and adolescence which will assist clinicians in more appropriately assessing B12 and folate status in this population. [ABSTRACT FROM AUTHOR]

This paper investigates the effects of the new post‐financial crisis regulatory regime – risk‐based capital ratios (RBC) and stress tests – on banks' off‐balance sheet activities (OBS). We use a panel of US bank holding companies over the period 2001–2018 to examine the relationship between banks' capital levels and OBS activities. Our major finding is that banks significantly reduced their OBS exposure following the introduction of the new capital regulatory framework requirements. In particular, we show that tighter regulatory RBC resulted in a reduction of OBS activities in well‐capitalised banks. Conversely, we find that under‐capitalised banks increased their OBS activities, which suggests the possibility of regulatory arbitrage. [ABSTRACT FROM AUTHOR]

Copyright of Journal der Deutschen Dermatologischen Gesellschaft is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Summary: Background: Trichophyton (T.) erinacei is a rare but emerging zoonotic dermatophyte that is rarely isolated as a human pathogen, with only a few cases extensively described in the literature. Patients and Methods: We conducted a systematic search to identify eligible articles reporting demographics, clinical characteristics, and the therapeutic approach regarding T. erinacei infection in humans. Results: 168 patients affected by T. erinacei were reported in the international literature between inception and November 2023. Only 56 cases (32.1%) were fully described. The median age at diagnosis was 26 years, the female/male ratio was around 2:1. The main source of the disease was the hedgehog. The infection presented with a combination of erythema, scaly plaques, pustules, papules, vesicles, oedema, and erosion; the most common locations were the hands and the head. The most frequently conducted examination was fungal culture, but gene sequencing and mass spectrometry improved both speed and precision in the most recent diagnostic course. Topical clotrimazole and systemic terbinafine were the most chosen treatment. Conclusions: Trichophyton erinacei should be considered in patients with erythematous scaly patches and recent contact with hedgehogs. Terbinafine should be considered as a first‐line effective treatment, griseofulvin and azoles could be considered valid alternatives. [ABSTRACT FROM AUTHOR]

Background: The potential link between alopecia areata (AA) and eosinophilia is unclear, as well as its clinical manifestations in these patients' subsets. Methods: This is a monocentric retrospective observational study in which clinical and laboratory data were summarized and evaluated the AA subset with concurrent eosinophilia. Results: In a sample of 205 AA patients, 38 (18.5%) were classified as AA with eosinophilia. Interestingly, this subset of patients had a statistically higher prevalence of atopia and nail abnormalities (p < 0.05) than AA without eosinophilia. AA patients with eosinophilia had a 3.70 higher odds of more severe hair loss versus age‐ and gender‐matched AA without eosinophilia. Conclusions: AA patients with eosinophilia had distinctive clinical and laboratory characteristics, so future studies may potentially explore the use of IL‐5 inhibitors. [ABSTRACT FROM AUTHOR]

Assessing the seismic vulnerability of existing buildings at the territorial scale is a crucial aspect for seismic-prone regions to properly plan effective strategies for disaster risk management. This paper presents a simplified methodology for the seismic vulnerability assessment of existing masonry and reinforced concrete buildings. The main purpose is to provide a tool able to evaluate the vulnerability of large building stocks, with the aim of defining priorities for further investigations or interventions. The procedure, inspired by methods in the literature devoted to the large-scale evaluation of structural vulnerability, allows defining the collapse peak ground acceleration (PGAc) through the evaluation of the resisting shear force, the latter being estimated by mechanical considerations and by taking expert judgment into account to consider the real structural complexities involved. A classification is proposed, which aims to categorize buildings within homogenous groups characterized by a level of seismic vulnerability belonging to given intervals. The method was calibrated with reference to several case studies in order to reach a sufficient level of reliability in the vulnerability estimate and was then applied to a significant number of school buildings in the province of Ravenna, Italy. For some of them, the simplified methodology was validated through comparisons with results obtained by means of vulnerability assessment procedures based on finite element analyses. [ABSTRACT FROM AUTHOR]

COVID-19 vaccine hesitancy had major implications for racial health equity at the beginning of the vaccination campaign in the U.S. Interventions to reduce vaccine hesitancy among Black and African American individuals partially helped to reduce vaccine hesitancy in specific communities. This article describes findings on interventions to reduce COVID-19 vaccine hesitancy among Black and African American individuals from a literature review we conducted. We found 12 studies that described communication, partnerships, and distribution interventions. Regarding communication, examples include a webinar hosted by an academic-community partnership team, information sessions, social media campaigns, educational materials, and virtual town halls. Effective partnerships identified through this literature review were a statewide alliance and one between an academic institution and faith and community leaders. Distribution interventions identified through the literature review were the deployment of multiple tactics to increase COVID-19 vaccine uptake (virtual town halls, a confidential employee hotline, department huddles, written educational material, and accessible vaccination stations) and offering to administer the COVID-19 vaccine during medical appointments. The results of this review show that implementing interventions directed at specific minority groups improves COVID-19 vaccine acceptance without undermining overall vaccine distribution or uptake. [ABSTRACT FROM AUTHOR]

Research on income inequality in developing economies has scarcely looked at the regional dimension. This is important, as progress in reducing income inequality at national level can only be partially successful if a country consists of very unequal regions alongside relatively equal ones. Using newly assembled Luxembourg Income Study data, we study the evolution of income inequality within Egyptian regions during 1999–2015. The analysis offers three findings. First, income inequality has generally increased. Second, regional differences in income inequality tended to decrease, but less unequal regions are converging to similar levels of inequality of more unequal regions. Third, there has been a decrease in the income share of the bottom 40% and an increase in the proportion of people living below 50% of median income. Hence, geographically diffused progress on the first two targets of SDG 10 depends on reversing these trends. [ABSTRACT FROM AUTHOR]

Obesity is an epidemic worldwide. Overweight and multiple obesity-related mechanisms, including dysmetabolic alterations, contribute to cardiovascular deleterious effects. Hence, overweight and obesity have been independently associated with increased cardiovascular risk, whose assessment is crucial for preserving life quality and reducing mortality, and to address appropriate therapeutic strategies in obese patients. Beyond the standard of care in managing overweight and obesity in adults (i.e., diet and physical exercise), several relevant pharmacotherapies have been approved, and several procedures and device types for weight loss have been recommended. In such a contest, medical weight management remains one option for treating excess weight. Most drugs used for obesity reduce appetite and increase satiety and, secondarily, slow gastric emptying to reduce body weight and, therefore, act also to improve metabolic parameters. In this contest, agonists of the glucagon-like peptide-1 receptor (GLP-1RAs) modulate different metabolic pathways associated with glucose metabolism, energy homeostasis, antioxidation, and inflammation. Moreover, this class of drugs has shown efficacy in improving glycemic control, reducing the incidence of cardiovascular events in type 2 diabetic patients, and reducing body weight independently of the presence of diabetes. Recently, in overweight or obese patients with pre-existing cardiovascular disease but without diabetes, the GLP-1RA semaglutide reduced the incidence of cardiovascular and cerebrovascular events and death from cardiovascular causes. Thus, semaglutide has been approved for secondary prevention in obese people with cardiovascular disease. Nevertheless, whether this class of drugs is equally effective for primary prevention in obese people has to be demonstrated. In this review, we will summarize updates on the pathophysiology of obesity, the effects of obesity on cardiovascular risk, the impact of different obesity phenotypes on cardiovascular diseases, and the novelties in the clinical management of obesity for cardiovascular prevention. [ABSTRACT FROM AUTHOR]

Copyright of Teología is the property of Pontificia Universidad Catolica Argentina and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The skin microbiota, with its millions of bacteria, fungi, and viruses, plays a key role in balancing the health of the skin and scalp. Its continuous exposure to potentially harmful stressors can lead to abnormalities such as local dysbiosis, altered barrier function, pathobiont overabundance, and infections often sustained by multidrug-resistant bacteria. These factors contribute to skin impairment, deregulation of immune response, and chronic inflammation, with local and systemic consequences. In this scenario, according to the needs of the bio-circular-green economy model, novel harmless strategies, both for regulating the diverse epidermal infectious and inflammatory processes and for preserving or restoring the host skin eubiosis and barrier selectivity, are requested. Vitis vinifera L. leaves and their derived extracts are rich in plant secondary metabolites, such as polyphenols, with antioxidant, anti-inflammatory, antimicrobial, and immunomodulatory properties that can be further exploited through microbe-driven fermentation processes. On this premise, this literature review aims to provide an informative summary of the most updated evidence on their interactions with skin commensals and pathogens and on their ability to manage inflammatory conditions and restore microbial biodiversity. The emerging research showcases the potential novel beneficial ingredients for addressing various skincare concerns and advancing the cosmeceutics field as well. [ABSTRACT FROM AUTHOR]

Dermoscopy can be an important help for the diagnosis of skin cancers and inflammatory cutaneous diseases. The list of the dermoscopic features reported in granuloma faciale is wide and includes vascular and non‐vascular features. We report here three cases of diffuse flat facial and extrafacial granuloma faciale that exhibited elongated linear vessels simulating branching vessels and diffuse structureless orange areas. The differential diagnosis between flat‐type granuloma faciale, basal cell carcinoma and cutaneous sarcoidosis can be extremely difficult, making histology mandatory before any treatment. [ABSTRACT FROM AUTHOR]

Research on COVID-19 vaccine hesitancy and misinformation endorsement among Spanish-speaking Americans is limited. This cross-sectional study used a Spanish-language survey from May–August 2021 among 483 Spanish speakers living in the US and Puerto Rico. We applied multivariable Poisson regression with robust error variances to assess the association between independent variables and binary outcomes for vaccine acceptance versus hesitance, as well as misinformation endorsement. Vaccine acceptance was associated with COVID-19 risk perception score (PR = 1.7 high vs. low perceived risk), opinion of government transparency (PR = 2.2 very transparent vs. not transparent), and trust in vaccine information (PR = 1.8 high vs. low). There was also an interaction between time spent on social media and social media as a main source of COVID-19 information (p = 0.0484). Misinformation endorsement was associated with opinion about government transparency (PR = 0.5 moderately vs. not transparent), trust in vaccine information (PR = 0.5 high vs. low trust), social media impact on vaccine confidence (PR = 2.1 decreased vs. increased confidence), distrust vaccines (PR = 1.9 distrust vs. trust), using vaccine information from Facebook (PR = 1.4 yes vs. no), and time spent on social media by those using social media as main source of COVID-19 vaccine information (p = 0.0120). Vaccine acceptance in respondents with high misinformation endorsement scores was 0.7 times those with low scores. These findings highlight the importance of effective information dissemination, the positive role of social media, and government transparency in boosting vaccine uptake among Spanish speakers in the US. [ABSTRACT FROM AUTHOR]

Extra virgin olive oil (EVOO) is a precious and healthy ingredient of Mediterranean cuisine. Due to its high nutritional value, the interest of consumers in the composition of EVOO is constantly increasing, making it a product particularly exposed to fraud. Therefore, there is a need to properly valorize high-quality EVOO and protect it from fraudulent manipulations to safeguard consumer choices. In our study, we used a straightforward and easy method to assess the molecular traceability of 28 commercial EVOO samples based on the use of SSR molecular markers. A lack of correspondence between the declared origin of the samples and the actual origin of the detected varieties was observed, suggesting possible adulteration. This result was supported by the identification of private alleles based on a large collection of national and international olive varieties and the search for them in the molecular profile of the analyzed samples. We demonstrated that the proposed method is a rapid and straightforward approach for identifying the composition of an oil sample and verifying the correspondence between the origin of olives declared on the label and that of the actual detected varieties, allowing the detection of possible adulterations. [ABSTRACT FROM AUTHOR]

Summary: Thrombocytopenia 4 (THC4) is an autosomal‐dominant thrombocytopenia caused by mutations in CYCS, the gene encoding cytochrome c (CYCS), a small haeme protein essential for electron transport in mitochondria and cell apoptosis. THC4 is considered an extremely rare condition since only a few patients have been reported so far. These subjects presented mild thrombocytopenia and no or mild bleeding tendency. In this study, we describe six Italian families with five different heterozygous missense CYCS variants: p.Gly42Ser and p.Tyr49His previously associated with THC4, and three novel variants (p.Ala52Thr, p.Arg92Gly, and p.Leu99Val), which have been classified as pathogenic by bioinformatics and segregation analyses. Moreover, we supported functional effects of p.Ala52Thr and p.Arg92Gly on oxidative growth and respiratory activity in a yeast model. The clinical characterization of the 22 affected individuals, the largest series of THC4 patients ever reported, showed that this disorder is characterized by mild‐to‐moderate thrombocytopenia, normal platelet size, and function, low risk of bleeding, and no additional clinical phenotypes associated with reduced platelet count. Finally, we describe a significant correlation between the region of CYCS affected by mutations and the extent of thrombocytopenia, which could reflect different degrees of impairment of CYCS functions caused by different pathogenetic variants. [ABSTRACT FROM AUTHOR]

In this paper, we present a bolt preload monitoring system, including the system architecture and algorithms. We show how Finite Element Method (FEM) simulations aided the design and how we processed signals to achieve experimental validation. The preload is measured using a Piezoelectric Micromachined Ultrasonic Transducer (PMUT) in pulse-echo mode, by detecting the Change in Time-of-Flight (CTOF) of the acoustic wave generated by the PMUT, between no-load and load conditions. We performed FEM simulations to analyze the wave propagation inside the bolt and understand the effect of different configurations and parameters, such as transducer bandwidth, transducer position (head/tip), presence or absence of threads, as well as the frequency of the acoustic waves. In order to couple the PMUT to the bolt, a novel assembly process involving the deposition of an elastomeric acoustic impedance matching layer was developed. We achieved, for the first time with PMUTs, an experimental measure of bolt preload from the CTOF, with a good signal-to-noise ratio. Due to its low cost and small size, this system has great potential for use in the field for continuous monitoring throughout the operative life of the bolt. [ABSTRACT FROM AUTHOR]

Hypertension represents one of the primary and most common risk factors leading to the development of heart failure (HF) across the entire spectrum of left ventricular ejection fraction. A large body of evidence has demonstrated that adequate blood pressure (BP) control can reduce cardiovascular events, including the development of HF. Although the pathophysiological and epidemiological role of hypertension in the development of HF is well and largely known, some critical issues still deserve to be clarified, including BP targets, particularly in HF patients. Indeed, the management of hypertension in HF relies on the extrapolation of findings from high-risk hypertensive patients in the general population and not from specifically designed studies in HF populations. In patients with hypertension and HF with reduced ejection fraction (HFrEF), it is recommended to combine drugs with documented outcome benefits and BP-lowering effects. In patients with HF with preserved EF (HFpEF), a therapeutic strategy with all major antihypertensive drug classes is recommended. Besides commonly used antihypertensive drugs, different evidence suggests that other drugs recommended in HF for the beneficial effect on cardiovascular outcomes exert advantageous blood pressure-lowering actions. In this regard, type 2 sodium glucose transporter inhibitors (SGLT2i) have been shown to induce BP-lowering actions that favorably affect cardiac afterload, ventricular arterial coupling, cardiac efficiency, and cardiac reverse remodeling. More recently, it has been demonstrated that finerenone, a non-steroidal mineralocorticoid receptor antagonist, reduces new-onset HF and improves other HF outcomes in patients with chronic kidney disease and type 2 diabetes, irrespective of a history of HF. Other proposed agents, such as endothelin receptor antagonists, have provided contrasting results in the management of hypertension and HF. A novel, promising strategy could be represented by small interfering RNA, whose actions are under investigation in ongoing clinical trials. [ABSTRACT FROM AUTHOR]

Summary: ACTN1‐related thrombocytopenia is a rare disorder caused by heterozygous variants in the ACTN1 gene characterized by macrothrombocytopenia and mild bleeding tendency. We describe for the first time two patients affected with ACTN1‐RT caused by a homozygous variant in ACTN1 (c.982G>A) with mild heart valve defects unexplained by any other genetic variants investigated by WES. Within the reported family, the homozygous sisters have moderate thrombocytopenia and marked platelet macrocytosis with giant platelets, revealing a more severe haematological phenotype compared to their heterozygous relatives and highlighting a significant effect of allelic burden on platelet size. Moreover, we hypothesize that some ACTN1 variants, especially when present in the homozygous state, may also contribute to the cardiac abnormalities. [ABSTRACT FROM AUTHOR]

Cutaneous field cancerization (CFC) refers to a skin region containing mutated cells' clones, predominantly arising from chronic exposure to ultraviolet radiation (UVR), which exhibits an elevated risk of developing precancerous and neoplastic lesions. Despite extensive research, many molecular aspects of CFC still need to be better understood. In this study, we conducted ex vivo assessment of cell differentiation, oxidative stress, inflammation, and DNA damage in CFC samples. We collected perilesional skin from 41 patients with skin cancer and non-photoexposed skin from 25 healthy control individuals. These biopsies were either paraffin-embedded for indirect immunofluorescence and immunohistochemistry stain or processed for proteins and mRNA extraction from the epidermidis. Our findings indicate a downregulation of p53 expression and an upregulation of Ki67 and p16 in CFC tissues. Additionally, there were alterations in keratinocyte differentiation markers, disrupted cell differentiation, increased expression of iNOS and proinflammatory cytokines IL-6 and IL-8, along with evidence of oxidative DNA damage. Collectively, our results suggest that despite its outwardly normal appearance, CFC tissue shows early signs of DNA damage, an active inflammatory state, oxidative stress, abnormal cell proliferation and differentiation. [ABSTRACT FROM AUTHOR]

Background Stress during a pandemic increases the risk of alcohol consumption, which may require pharmacological management. Methods An observational single-center retrospective study was conducted from 1 January 2018 to 31 December 2021, and divided into 2-year periods (2018–2019 and 2020–2021). This study focused on calls to one of the emergency departments (EDs) of seven hospitals in the Bari (Italy) metropolitan area for patients requiring emergency services (ESs) who were either admitted or not admitted, due to their refusal. Results A 30% reduction in emergency calls for alcohol-related issues and a 41.17% reduction in calls for patients who refused to be admitted to the ED were observed during the pandemic. During the pandemic, an inverse association was found between pharmacological treatment and number of calls coded green (non-critical) and yellow (fairly critical) in patients admitted to EDs. An inverse association was also found for calls coded green in patients not admitted to EDs and pharmacological treatment. Metadoxine was administered in almost all alcohol-related emergencies, primarily in conjunction with drugs acting on the gastrointestinal tract, irrespective of age, the period considered, and whether patients were admitted or not admitted to the ED. Conclusions ES is the first and only out-of-hospital service encountered by numerous patients with alcohol-use disorders who refuse to be admitted to the ED. These patients should be directed by ES personnel to a multidisciplinary program to receive treatment for drinking, improve their quality of life, and reduce sanitation costs. [ABSTRACT FROM AUTHOR]

Background: Eyelid dermatitis is a common, multifactorial, chronic, and/or relapsing condition with a considerable impact on life quality that represents a diagnostic and treatment challenge. Methods: We carried out a single-blind, controlled, randomized, parallel-group study to evaluate the efficacy of two dermo-cosmetics (cream for the eyelids and eye contour area and cleansing face cream) in which the key ingredient was witch hazel extract, compared to generic cream, in the treatment of patients affected by eyelid dermatitis. Enrolled subjects were treated and followed-up for 4 weeks; dermatological evaluation was objectively performed using the DLQI, OSDI, NRS–itch, and EDSI indicators. Results: The products tested proved to be more effective than the placebo in ameliorating the dermatitis in the treated patients, based on all considered dermatological scores. In the treatment arm, we observed a reduction in both DLQI score and in the indicators related to the extension of dermatitis, greater than that observed in the control arm. Conclusions: This comparative study demonstrates the role of dermo-cosmetic products tested not only as a support treatment, but also as a first-choice clinical approach. [ABSTRACT FROM AUTHOR]

Introduction: Hypertension is the main risk factor for cardiovascular diseases (CVD). Notably, only about half of hypertensive patients manage to achieve the recommended blood pressure (BP) control. Main reasons for the persistence of uncontrolled BP during treatment are lack of compliance on the patients' side, and therapeutic inertia on physicians' side. Methods: During the global BP screening campaign "May Measure Month" (MMM) (May 1st to July 31st, 2022), a nationwide, cross-sectional, opportunistic study endorsed by the Italian Society of Hypertension was conducted on volunteer adults ≥ 18 years to raise awareness of the health issues surrounding high BP. A questionnaire on demographic/clinical features and questions on the use of fixed-dose single-pills for the treatment of hypertension was administered. BP was measured with standard procedures. Results: A total of 1612 participants (mean age 60.0±15.41 years; 44.7% women) were enrolled. Their mean BP was 128.5±18.1/77.1±10.4 mmHg. About half of participants were sedentary, or overweight/obese, or hypertensive. 55.5% individuals with complete BP assessment had uncontrolled hypertension. Most were not on a fixed-dose combination of antihypertensive drugs and did not regularly measure BP at home. Self-reported adherence to BP medications was similar between individuals with controlled and uncontrolled BP (95% vs 95.5%). Conclusions: This survey identified a remarkable degree of therapeutic inertia and poor patients' involvement in the therapeutic process and its monitoring in the examined population, underlining the importance of prevention campaigns to identify areas of unsatisfactory management of hypertension, to increase risk factors' awareness in the population with the final purpose of reducing cardiovascular risk. [ABSTRACT FROM AUTHOR]

By using both static or normative documents (licenses, official regulations, barber-surgeon's manuals) and more dynamic sources (trials of the Protomedicato), my article asks what was an expert on skin diseases in early modern Italy and how the loose category of "skin diseases" came into being under the influence of medical theory, surgical practice, patient demand, and civic regulation of medical practice. I argue that by the late seventeenth century "skin disease" became an independent category, the surface of the body an independent object, and the empiric surgeon an expert of such surface. As human skin as a surface acquired autonomy as an object of knowledge and practice, a class of experts emerged following a path which is in large measure independent from the transformations of Galenic theoretical medicine and the rise of mechanistic medicine which are typically described as central in this period. I argue that empirical surgeons and barber-surgeons became experts on skin through the licensing system and by inverting the classical path of medical knowledge – not from the inner body to its surface as manifestation of internal humoral imbalances, but rather from the surface to the knowledge and the treatment of the inner body. [ABSTRACT FROM AUTHOR]

Cellular-level anatomical data from early fetal brain are sparse yet critical to the understanding of neurodevelopmental disorders. We characterize the organization of the human cerebral cortex between 13 and 15 gestational weeks using highresolution whole-brain histological data sets complimented with multimodal imaging. We observed the heretofore underrecognized, reproducible presence of infolds on the mesial surface of the cerebral hemispheres. Of note at this stage, when most of the cerebrum is occupied by lateral ventricles and the corpus callosum is incompletely developed, we postulate that these mesial infolds represent the primordial stage of cingulate, callosal, and calcarine sulci, features of mesial cortical development. Our observations are based on the multimodal approach and further include histological three-dimensional reconstruction that highlights the importance of the plane of sectioning. We describe the laminar organization of the developing cortical mantle, including these infolds from the marginal to ventricular zone, with Nissl, hematoxylin and eosin, and glial fibrillary acidic protein (GFAP) immunohistochemistry. Despite the absence of major sulci on the dorsal surface, the boundaries among the orbital, frontal, parietal, and occipital cortex were very well demarcated, primarily by the cytoarchitecture differences in the organization of the subplate (SP) and intermediate zone (IZ) in these locations. The parietal region has the thickest cortical plate (CP), SP, and IZ, whereas the orbital region shows the thinnest CP and reveals an extra cell-sparse layer above the bilaminar SP. The subcortical structures show intensely GFAP-immunolabeled soma, absent in the cerebral mantle. Our findings establish a normative neurodevelopment baseline at the early stage. [ABSTRACT FROM AUTHOR]

The endothelium is a monocellular layer covering the inner surface of blood vessels. It maintains vascular homeostasis regulating vascular tone and permeability and exerts anti-inflammatory, antioxidant, anti-proliferative, and anti-thrombotic functions. When the endothelium is exposed to detrimental stimuli including hyperglycemia, hyperlipidemia, and neurohormonal imbalance, different biological pathways are activated leading to oxidative stress, endothelial dysfunction, increased secretion of adipokines, cytokines, endothelin-1, and fibroblast growth factor, and reduced nitric oxide production, leading eventually to a loss of integrity. Endothelial dysfunction has emerged as a hallmark of dysmetabolic vascular impairment and contributes to detrimental effects on cardiac metabolism and diastolic dysfunction, and to the development of cardiovascular diseases including heart failure. Different biomarkers of endothelial dysfunction have been proposed to predict cardiovascular diseases in order to identify microvascular and macrovascular damage and the development of atherosclerosis, particularly in metabolic disorders. Endothelial dysfunction also plays an important role in the development of severe COVID-19 and cardiovascular complications in dysmetabolic patients after SARS-CoV-2 infection. In this review, we will discuss the biological mechanisms involved in endothelial dysregulation in the context of cardiometabolic diseases as well as the available and promising biomarkers of endothelial dysfunction in clinical practice. [ABSTRACT FROM AUTHOR]

The Italian Society of Clinical Biochemistry and Molecular Biology (SIBioC) has long promoted harmonizing activities, focusing on the laboratory reports to guarantee accuracy and comparability of the results. There is a wealth of guidelines on the clinical usefulness and diagnostic accuracy of serum protein electrophoresis (SPE), but only few provide specific recommendations for reporting and commenting the results. According to surveys and international multi-center studies, there is considerable variability between SPE reports among laboratories, which negatively impacts the management of patients with monoclonal gammopaties (MGs). This document issued by the SIBioC Study Group on Proteins, provides guidance on how to standardize and harmonize laboratory SPE reports, formulated on the basis on the available reference literature as well as on expert consensus. Each SPE report should be accompanied by a descriptive comment, mainly related to the management of samples with monoclonal components (detection, quantification and immunotyping). Examples of comments are provided. Special attention should be dedicated to samples showing a possible interference by therapeutic monoclonal antibodies (tmAb) currently used for the treatment of Multiple Myeloma (MM). Failure to detect interference due to tmAb can lead to further unnecessary diagnostic procedures or incorrect interpretations of the efficacy of treatment, such as the failure to detect a complete response to treatment in MM patients. Close collaboration between laboratory professionals and clinicians is therefore of paramount importance to provide correct information that will be useful in every step of the management of MGs patients. [ABSTRACT FROM AUTHOR]

Despite the crucial role the COVID-19 vaccine played in curbing the pandemic, a significant portion of Black and African American individuals expressed hesitancy toward being vaccinated. This review aimed to identify the determinants of COVID-19 vaccine hesitancy among Black and African American individuals in the U.S. The literature search was conducted in December 2022 according to the PRISMA criteria focusing on empirical studies. Data extraction methods, critical appraisal, and secondary thematic analysis were conducted on both quantitative and qualitative studies. Sixteen quantitative studies identified the key factors associated with vaccine hesitancy, such as confidence in vaccine effectiveness, safety, and trust in the healthcare system. Fourteen qualitative studies revealed major themes of mistrust, fear, and information needs, including historical mistrust, concerns about the vaccine development process, and contemporary institutional mistrust. The synthesis of quantitative and qualitative findings derived from this review provides a nuanced understanding of the determinants of vaccine hesitancy in Black and African American communities in the U.S., offering a foundation for the development of evidence-based interventions. Mistrust in the healthcare system, fear, and informational gaps on vaccine safety and effectiveness were identified as significant barriers to vaccination, demanding targeted interventions. [ABSTRACT FROM AUTHOR]

The genetic diversity of the ancient autochthonous olive trees on the Maltese islands and the relationship with the wild forms growing in marginal areas of the island (57 samples), as well as with the most widespread cultivars in the Mediterranean region (150 references), were investigated by genetic analysis with 10 SSR markers. The analysis revealed a high genetic diversity of Maltese germplasm, totaling 84 alleles and a Shannon information index (I) of 1.08. All samples from the upper and the lower part of the crown of the Bidni trees belonged to the same genotype, suggesting that there was no secondary top-grafting of the branches. The Bidni trees showed close relationships with the local wild germplasm, suggesting that the oleaster population played a role in the selection of the Bidni variety. Genetic similarities were also found between Maltese cultivars and several Italian varieties including accessions putatively resistant to the bacterium Xylella fastidiosa, which has recently emerged in the Apulia region (Italy) and has caused severe epidemics on olive trees over the last decade. [ABSTRACT FROM AUTHOR]

Introduction: The rapid advancement of artificial intelligence and big data analytics, including descriptive, diagnostic, predictive, and prescriptive analytics, has the potential to revolutionize many areas of medicine, including nephrology and dialysis. Artificial intelligence and big data analytics can be used to analyze large amounts of patient medical records, including laboratory results and imaging studies, to improve the accuracy of diagnosis, enhance early detection, identify patterns and trends, and personalize treatment plans for patients with kidney disease. Additionally, artificial intelligence and big data analytics can be used to identify patients' treatment who are not receiving adequate care, highlighting care inefficiencies in the dialysis provider, optimizing patient outcomes, reducing healthcare costs, and consequently creating values for all the involved stakeholders. Objectives: We present the results of a comprehensive survey aimed at exploring the attitudes of European physicians from eight countries working within a major hemodialysis network (Fresenius Medical Care NephroCare) toward the application of artificial intelligence in clinical practice. Methods: An electronic survey on the implementation of artificial intelligence in hemodialysis clinics was distributed to 1,067 physicians. Of the 1,067 individuals invited to participate in the study, 404 (37.9%) professionals agreed to participate in the survey. Results: The survey showed that a substantial proportion of respondents believe that artificial intelligence has the potential to support physicians in reducing medical malpractice or mistakes. Conclusion: While artificial intelligence's potential benefits are recognized in reducing medical errors and improving decision-making, concerns about treatment plan consistency, personalization, privacy, and the human aspects of patient care persist. Addressing these concerns will be crucial for successfully integrating artificial intelligence solutions in nephrology practice. [ABSTRACT FROM AUTHOR]

The main topic of this article is the relationship between morphosyntactic contexts and nominal inflections in Aromanian varieties of southern Albania. These varieties have a specialized inflection in the plural definite and feminine singular nouns, associated with genitive, dative, and prepositional contexts, where it is preceded by a Possessive Introducer. We present a detailed picture of the microvariation that characterizes the different systems. The broad syncretism that emerges suggests a rethinking of the syntactic status of inflections and the notion of Case. Our approach assumes that morphology is based on Merge within the syntactic computation and that sub-word elements are provided with interpretable content. This theoretical model will also guide us in the study of prepositions and their distribution. [ABSTRACT FROM AUTHOR]

Purpose: Fetal growth restriction (FGR) management and delivery planning is based on a multimodal approach. This meta-analysis aimed to evaluate the prognostic accuracies of the aortic isthmus Doppler to predict adverse perinatal outcomes in singleton pregnancies with FGR. Methods: PubMed, EMBASE, the Cochrane Library, ClinicalTrials.gov and Google scholar were searched from inception to May 2021, for studies on the prognostic accuracy of anterograde aortic isthmus flow compared with retrograde aortic isthmus flow in singleton pregnancy with FGR. The meta-analysis was registered on PROSPERO and was assessed according to PRISMA and Newcastle–Ottawa Scale. DerSimonian and Laird's random-effect model was used for relative risks, Freeman-Tukey Double Arcsine for pooled estimates and exact method to stabilize variances and CIs. Heterogeneity was quantified using I2 statistics. Results: A total of 2933 articles were identified through the electronic search, of which 6 studies (involving 240 women) were included. The quality evaluation of studies revealed an overall acceptable score for study group selection and comparability and substantial heterogeneity. The risk of perinatal death was significantly greater in fetuses with retrograde Aortic Isthmus blood flow, with a RR of 5.17 (p value 0.00001). Similarly, the stillbirth rate was found to have a RR of 5.39 (p value 0.00001). Respiratory distress syndrome had a RR of 2.64 (p value = 0.03) in the group of fetuses with retrograde Aortic Isthmus blood flow. Conclusion: Aortic Isthmus Doppler study may add information for FGR management. However, additional clinical trial are required to assess its applicability in clinical practice. [ABSTRACT FROM AUTHOR]

Introduction: Over the last decade, the emergence and spread of personalized medicine (PM) have defined a substantial revolution in healthcare. In principle, healthcare system sustainability is challenged by the investments required for research and development, as well as the adoption of PM techniques in routine clinical care. The "Integrating China in the International Consortium for Personalized Medicine" (IC2PerMed) EU-funded project aims to integrate China into the "International Consortium for Personalized Medicine" (ICPerMed). IC2PerMed aims to align the EU and China's research agendas in this field to enable a swift development of approaches in the EU and China with strong leverage upon EU-Chinese collaborations. Methods: Within this project, we first mapped relevant policies on PM in both the EU and China, and then we involved European and Chinese experts in PM in workshops and Delphi surveys in order to identify relevant priorities for the implementation of PM in sustainable healthcare. Results: As a result of this process, we identified nine overarching priorities, each addressing specific aspects of the sustainability of healthcare systems and PM implementation, with the main goal of supporting policymakers in integrating PM approaches in the EU and China. Discussion/conclusion: The implementation of PM in health systems is appealing in terms of improved accuracy in diagnostics, treatment, and prevention of disease, as well as reduction of the side effects resulting from inefficient use of drugs. Research, development, and implementation of needed techniques require time and resources that can slow the adoption of PM in healthcare systems. The nine priorities we identified address some of the most critical points, trying to lay the foundations for a comprehensive approach. [ABSTRACT FROM AUTHOR]

Background: Dementia affects 5–8% of the population aged over 65 years (~50 million worldwide). Several factors are associated with increased risk, including diet. The Mediterranean diet (MedDiet) has shown potential protective effects against several chronic diseases. Aims: This systematic review with meta-analysis aim was to assess the association between adherence to the MedDiet and the risk of dementia in the elderly. Methods: PRISMA-2020 guidelines were followed. PubMed/MEDLINE and Scopus were searched on 17 July 2023. The Newcastle–Ottawa Scale tool was used to assess the risk of bias. The protocol was pre-registered in PROSPERO (registration number: CRD 42023444368). Heterogeneity was assessed using the I2 test. Publication bias was assessed by visual inspection of the funnel plot and by Egger’s regression asymmetry test. The final effect size was reported as OR or HR, depending on the study design of the included studies. Results: Out of 682 records, 21 were included in the analysis. The pooled OR was 0.89 (95% CI = 0.84–0.94) based on 65,955 participants (I2 = 69.94). When only cohort studies were included, HR was 0.84 (95% CI = 0.76–0.94) based on 55,205 participants (I2 = 89.70). When only Alzheimer Disease was considered OR was 0.73 (95% CI = 0.62–0.85) based on 38,292 participants (I2 = 63.85). Discussion: Despite the relatively low risk reduction associated with higher adherence to MedDiet among elderly, it should be considered that this population is the most affected. Conclusions: Adherence to MedDiet could be an effective non-pharmacological measure to reduce the burden of dementia, even among elderly. [ABSTRACT FROM AUTHOR]

Summary: MECOM‐associated syndrome (MECOM‐AS) is a rare disease characterized by amegakaryocytic thrombocytopenia, progressive bone marrow failure, pancytopenia and radioulnar synostosis with high penetrance. The clinical phenotype may also include finger malformations, cardiac and renal alterations, hearing loss, B‐cell deficiency and predisposition to infections. The syndrome, usually diagnosed in the neonatal period because of severe thrombocytopenia, is caused by mutations in the MECOM gene, encoding for the transcription factor EVI1. The mechanism linking the alteration of EVI1 function and thrombocytopenia is poorly understood. In a paediatric patient affected by severe thrombocytopenia, we identified a novel variant of the MECOM gene (p.P634L), whose effect was tested on pAP‐1 enhancer element and promoters of targeted genes showing that the mutation impairs the repressive activity of the transcription factor. Moreover, we demonstrated that EVI1 controls the transcriptional regulation of MPL, a gene whose mutations are responsible for congenital amegakaryocytic thrombocytopenia (CAMT), potentially explaining the partial overlap between MECOM‐AS and CAMT. [ABSTRACT FROM AUTHOR]

Introduction: hematological malignancies are associated with an increased thrombotic risk compared to solid tumors. Multiple myeloma (MM) is a hematological neoplastic disease with strong thromboembolic repercussions. In these patients the venous thromboembolism may occur during the first months of treatment with immunomodulatory drugs (IMiDs), in combination with high-dose of dexamethasone. Although IMiDs therapy improves the clinical outcome, a concomitant increase of thromboembolic manifestations are observed. Rotational thromboelastometry, provides information on the clot formation, its stabilization and dissolution, reflecting in vivo patient's hemostasis. The aim of the study was to investigate the dynamic state of clot formation, through the evaluation of research parameters, in addition to standard ones, to best evaluate the thrombotic risk in these patients. Methods: thirty-four MM patients and thirty-five controls were unrolled from Hematology Department of the University Hospital Federico II of Naples, Italy. To evaluate the coagulation's dynamics status, we investigated EXTEM, INTEM and FIBTEM assays, through both standard (CT, CFT, MCF, α-angle) and research (MAXV, MAXVt, AUC) parameters, using Rotational Thromboelastometry. Results: among the research parameters, we observed statistical significance differences between controls and patients for EXTEM (MAXV: p=0.010; MAXVt: p=0.010), for INTEM (MAXV:10 p=0.005; MAXVt: p=0.005) and for FIBTEM (MAXV: p<0.001; AUC: p<0.001) tests. Discussion: to the best of our knowledge, this is an original study showing that research parameters can give an additional contribution to the interpretation of the hypercoagulability state in MM patients, bringing to light patients who could be at higher thrombotic risk. [ABSTRACT FROM AUTHOR]

Understanding andmapping the human connectome is a long-standing endeavor of neuroscience, yet the significant challenges associated with the large size of the human brain during cryosectioning remain unsolved. While smaller brains, such as rodents and marmosets, have been the focus of previous connectomics projects, the processing of the larger human brain requires significant technological advancements. This study addresses the problemof freezing large brains in aligned neuroanatomical coordinates with minimal tissue damage, facilitating large-scale distortion-free cryosectioning. We report the most effective and stable freezing technique utilizing an appropriate choice of cryoprotection and leveraging engineering tools such as brain master patterns, custom-designed molds, and a continuous temperature monitoring system. This standardized approach to freezing enables high-quality, distortion-free histology, allowing researchers worldwide to explore the complexities of the human brain at a cellular level. Our approach combines neuroscience and engineering technologies to address this long-standing challenge with limited resources, enhancing accessibility of large-scale scientific endeavors beyond developed countries, promoting diverse approaches, and fostering collaborations. [ABSTRACT FROM AUTHOR]

Background: The coronavirus disease 2019 (COVID-19) pandemic highlighted the challenges of effective emergency risk communication (ERC) to protect public health, including the difficulty in tackling the spread of inaccurate information. This study aimed to understand those challenges and potential solutions by interviewing leading government spokespersons and their advisors from around the world with experience during large scale emergencies. Interviews were conducted with 27 individuals representing governments from 19 countries across five continents. Thematic analysis, using both a deductive and inductive approach, organized and identified salient themes and patterns that emerged from the interview data. Results: The thematic analysis of the interviews' data led to the identification of 9 principles of communication: 1) Timeliness, 2) Transparency, 3) Coordination, 4) Accuracy and Consistency, 5) Accountability and Integrity, 6) Independence from politics, 7) Responsiveness, 8) Equity, 9) Trust and Empathy. We also developed 36 recommendations actionable by government agencies to enhance the practice of the 9 principles. Examples include the need for: proactive communication strategies, permanent communication task forces integrated into preparedness and response efforts, robust processes to enhance open discussion of controversial topics within government agencies, clarification of how various branches of government coordinate to oversee specific aspects of the overall communication, and development of relationships across public and private entities ahead of a crisis. Conclusions: Our findings suggest key practical recommendations for leaders of government agencies to enhance ERC capabilities going forward. Before a crisis, they must constantly review internal processes and integrate ERC functions into overall communication planning efforts. During a crisis, they must coordinate roles and responsibilities across branches of governments, strive to communicate to a range of populations to uphold equity, maintain transparency by avoiding information voids on controversial issues and build trust by building relationships with a variety of community leaders. After a crisis, government agencies should continue the practice of social listening to hear more about the public's informational needs, strengthen civic participation processes, and understand how an always evolving information environment can best be leveraged during future crises. [ABSTRACT FROM AUTHOR]

Aquaporins (AQPs) are small transmembrane proteins able to facilitate the passive transport of water and small molecules throughout cells. Several studies have demonstrated that modulation of AQPs' expression contributes to cancer development and progression. However, to date, very little is known about their involvement in malignant melanoma (MM) progression. In this retrospective observational study, we evaluated the correlation between AQP1, -8, and -9 expression and the clinical outcomes of 58 patients diagnosed with MM from 2014 to 2016, of which 14 were diagnosed as nodular melanoma (NM) and 44 as superficial spreading melanoma (SSM). In general, we found that AQPs were more highly expressed in SSM than NM, suggesting a potential correlation with prognosis. While analyzing the expression of each AQP, we discovered that AQP1 was associated with a specific body site and low mitotic index, AQP8 with a negative sentinel lymph node, and AQP9 with the Breslow thickness and lack of ulcerations. Together with the survival analysis performed in this study, our results suggest that the expression of AQP1, -8, and -9 could be correlated with a better prognosis for malignant melanoma. [ABSTRACT FROM AUTHOR]

Introduction: This study aimed to explore the interplay between metabolic power (MP) and equivalent distance (ED) and their respective roles in training games (TGs) and official soccer matches. Furthermore, the secondary objective was to investigate the connection between external training load (ETL), determined by the interplay of metabolic power and equivalent distance, and internal training load (ITL) assessed through HR-based methods, serving as a measure of criterion validity. Methods: Twenty-one elite professional male soccer players participated in the study. Players were monitored during 11 months of full training and overall official matches. The study used a dataset of 4269 training games and 380 official matches split into training and test sets. In terms of machine learning methods, the study applied several techniques, including K-Nearest Neighbors, Decision Tree, Random Forest, and Support-Vector Machine classifiers. The dataset was divided into two subsets: a training set used for model training and a test set used for evaluation. Results: Based on metabolic power and equivalent distance, the study successfully employed four machine learning methods to accurately distinguish between the two types of soccer activities: TGs and official matches. The area under the curve (AUC) values ranged from 0.90 to 0.96, demonstrating high discriminatory power, with accuracy levels ranging from 0.89 to 0.98. Furthermore, the significant correlations observed between Edwards' training load (TL) and TL calculated from metabolic power metrics confirm the validity of these variables in assessing external training load in soccer. The correlation coefficients (r values) ranged from 0.59 to 0.87, all reaching statistical significance at p < 0.001. Discussion: These results underscore the critical importance of investigating the interaction between metabolic power and equivalent distance in soccer. While the overall intensity may appear similar between TGs and official matches, it is evident that underlying factors contributing to this intensity differ significantly. This highlights the necessity for more comprehensive analyses of the specific elements influencing physical effort during these activities. By addressing this fundamental aspect, this study contributes valuable insights to the field of sports science, aiding in the development of tailored training programs and strategies that can optimize player performance and reduce the risk of injuries in elite soccer. [ABSTRACT FROM AUTHOR]

Introduction: This study aimed to explore the interplay between metabolic power (MP) and equivalent distance (ED) and their respective roles in training games (TGs) and official soccer matches. Furthermore, the secondary objective was to investigate the connection between external training load (ETL), determined by the interplay of metabolic power and equivalent distance, and internal training load (ITL) assessed through HR-based methods, serving as a measure of criterion validity. Methods: Twenty-one elite professional male soccer players participated in the study. Players were monitored during 11 months of full training and overall official matches. The study used a dataset of 4269 training games and 380 official matches split into training and test sets. In terms of machine learning methods, the study applied several techniques, including K-Nearest Neighbors, Decision Tree, Random Forest, and Support-Vector Machine classifiers. The dataset was divided into two subsets: a training set used for model training and a test set used for evaluation. Results: Based on metabolic power and equivalent distance, the study successfully employed four machine learning methods to accurately distinguish between the two types of soccer activities: TGs and official matches. The area under the curve (AUC) values ranged from 0.90 to 0.96, demonstrating high discriminatory power, with accuracy levels ranging from 0.89 to 0.98. Furthermore, the significant correlations observed between Edwards’ training load (TL) and TL calculated from metabolic power metrics confirm the validity of these variables in assessing external training load in soccer. The correlation coefficients (r values) ranged from 0.59 to 0.87, all reaching statistical significance at p < 0.001. Discussion: These results underscore the critical importance of investigating the interaction between metabolic power and equivalent distance in soccer. While the overall intensity may appear similar between TGs and official matches, it is evident that underlying factors contributing to this intensity differ significantly. This highlights the necessity for more comprehensive analyses of the specific elements influencing physical effort during these activities. By addressing this fundamental aspect, this study contributes valuable insights to the field of sports science, aiding in the development of tailored training programs and strategies that can optimize player performance and reduce the risk of injuries in elite soccer. [ABSTRACT FROM AUTHOR]

The use of point-of-care ultrasound is rapidly increasing in medical practice. This study aims to evaluate the left ventricle systolic function by the bedside focus cardiac ultrasound (FoCUS). We consecutively enrolled n.59 patients of the Emergency Medicine Unit of S. Andrea Hospital. Every patient received a bedside FoCUS examination to estimate the left ventricle (LV) ejection fraction (EF); the LV EF measurements were compared with those obtained by standard echocardiography (as gold standard). The LV EF obtained by the bedside FoCUS examination and the standard echocardiography, resulted, respectively: 50.2 ± 15.1% (by the Quinones equation), 39.5 + 12.0% (by the Lvivo app) and 53.7 + 11.1% (by the standard echocardiography). The correlations between the bedside FoCUS EF measurements versus standard echocardiography were statistically significant: r = + 0.694 p < 1.9 × 10–6 (Quinones equation, Bland–Altman analysis mean = − 2.3%) and r = + 0.571 p < 0.01 (Lvivo app, Bland–Altman analysis mean = − 13.3%). In conclusion, the present study showed a high accuracy of the bedside FoCUS EF evaluations, which may support the diagnosis of the heart failure in an emergency setting without delaying. The EF measurements by the operational method are more precise than those obtained by the unselected images of the software application. [ABSTRACT FROM AUTHOR]

Background: The quality of dermoscopic images is affected by lighting conditions, operator experience, and device calibration. Color constancy algorithms reduce this variability by making images appear as if they were acquired under the same conditions, allowing artificial intelligence (AI)‐based methods to achieve better results. The impact of color constancy algorithms has not yet been evaluated from a clinical dermatologist's workflow point of view. Here we propose an in‐depth investigation of the impact of an AI‐based color constancy algorithm, called DermoCC‐GAN, on the skin lesion diagnostic routine. Methods: Three dermatologists, with different experience levels, carried out two assignments. The clinical experts evaluated key parameters such as perceived image quality, lesion diagnosis, and diagnosis confidence. Results: When the DermoCC‐GAN color constancy algorithm was applied, the dermoscopic images were perceived to be of better quality overall. An increase in classification performance was observed, reaching a maximum accuracy of 74.67% for a six‐class classification task. Finally, the use of normalized images results in an increase in the level of self‐confidence in the qualitative diagnostic routine. Conclusions: From the conducted analysis, it is evident that the impact of AI‐based color constancy algorithms, such as DermoCC‐GAN, is positive and brings qualitative benefits to the clinical practitioner. [ABSTRACT FROM AUTHOR]

Depressive disorders are the most common manifestation of psychological distress in allogenic hematopoietic stem cell transplantation. Few studies have yet investigated the relationship between therapeutic educational interventions and outcomes in these patients with specific attention to those related to mental health. Aim of this study was to understand how much educational intervention can represent a protective factor in preventing psycho-emotional distress-related issues in this setting. A prospective observational study of a multicenter cohort was conducted. Adult patients undergoing allogeneic hematopoietic stem cell transplantation. A pre-transplant therapeutic educational programme was offered to a cohort of adult patients undergoing allo-HSCT recruited in ten transplant centers of the GITMO network between May 2018 and January 2019. Depression, Anxiety and Stress scale was used to collect data on psycho-emotional distress at admission (T0), at the day of transplant (T1) and at discharge (T2). Descriptive data were collected and reported, and comparative analyses were done among patients who were compliant with the pre-transplant educational intervention and those who did not (for any reason). A cohort of 133 allo-HSCT patients was observed. In patients who did not receive pre-transplant educational intervention, higher levels of depression at admission (p = 0.01) and at the day of transplant (p = 0.03), higher levels of anxiety (p = 0.01 and p = 0.01 respectively) as well as higher levels of stress (p < 0.01 and p = 0.01) were observed. Problem solving and "face to face" interview were the best methods to provide education to patients. Those who received pre-transplant education through "face-to-face" interview reported significant low levels of depression during the whole hospital stay period (p < 0.01; p = 0.01; p = 0.01) and less anxiety and stress at admission (p < 0.05 and p = 0.01 respectively). Depression was more represented in female than male participants at T0 (16.5% vs 9.0%; p = 0.01), while among T0 and T2 the males had a significant higher increasing of depression than females (p = 0.03). Our study demonstrated that pretreatment therapeutic educational programs with specific learning modalities can be effective in limiting the potential risk of developing moderate-to-severe anxiety-depressive states and stress symptoms related to allo-HSCT. Further studies are needed to confirm our results and to understand whether containing psycho-emotional distress can have any relationship with medium- and long-term post-transplant complications. [ABSTRACT FROM AUTHOR]

Introduction: Fanconi anemia (FA) is a genome instability condition that drives somatic mosaicism in up to 25% of all patients, a phenomenon now acknowledged as a good prognostic factor. Herein, we describe the case of P1, a FA proband carrying a splicing variant, molecularly compensated by a de novo insertion. Methods and Results: Targeted next-generation sequencing on P1’s peripheral blood DNA detected the known FANCA c.2778 + 83C > G intronic mutation and suggested the presence of a large deletion on the other allele, which was then assessed by MLPA and RT-PCR. To determine the c.2778 + 83C > G splicing effect, we performed a RTPCR on P1’s lymphoblastoid cell line (LCL) and on the LCL of another patient (P2) carrying the same variant. Although we confirmed the expected alternative spliced form with a partial intronic retention in P2, we detected no aberrant products in P1’s sample. Sequencing of P1’s LCL DNA allowed identification of the de novo c.2778 + 86insT variant, predicted to compensate 2778 + 83C > G impact. Albeit not found in P1’s bone marrow (BM) DNA, c.2778 + 86insT was detected in a second P1’s LCL established afterward, suggesting its occurrence at a low level in vivo. Minigene assay recapitulated the c.2778 + 83C > G effect on splicing and the compensatory role of c.2778 + 86insT in re-establishing the physiological mechanism. Accordingly, P1’s LCL under mitomycin C selection preserved the FA pathway activity in terms of FANCD2 monoubiquitination and cell survival. Discussion: Our findings prove the role of c.2778 + 86insT as a second-site variant capable of rescuing c.2778 + 83C > G pathogenicity in vitro, which might contribute to a slow hematopoietic deterioration and a mild hematologic evolution. [ABSTRACT FROM AUTHOR]