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Substance Use Disorders (SUDs) are a significant public health concern with complex etiologies involving genetic, environmental, and psychological factors. Here, we present BioSUD, a biobank that, by integrating genomic data with comprehensive phenotypic assessments, including sociodemographic, psychosocial, and addiction-related variables, was designed to investigate the etiology of SUDs within the Southern Italian population. We assessed a cohort of 1,806 participants (1,508 controls and 298 individuals with SUD diagnosis). Genomic analyses of the newly generated genotypes showed a predominantly Southern Italian ancestry for the BioSUD cohort. Admixture analysis reveals a complex history of genetic admixture in Southern Italian populations, exhibiting Southern European, African, and other ancestries. This results in significant genetic variation, potentially limiting the applicability of translational studies primarily based on Northern European ancestries. From a social and psychological perspective, individuals with SUDs exhibited lower socioeconomic status, increased exposure to adverse experiences, and compromised familial and peer relationships relative to controls. These results show that the BioSUD cohort is valuable for studying SUD-associated complex behavioral traits.

Background Mosquito-borne diseases are an emerging threat in Europe. West Nile virus (WNV) is an arbovirus commonly transmitted in an enzootic cycle involving ornithophilic mosquitoes as major vectors. In recent years, global climate change has been identified as a significant driver of the increased spread of this virus. In Italy, outbreaks of WNV infection have been recorded every year in northern Italy. The Apulia region of southern Italy was not considered a high-risk region until 2023, when an unexpected increase in WNV infections occurred. The aim of this study was to evaluate the prevalence of anti-WNV antibodies in a wide sample of blood donors in the Apulia region of southern Italy enrolled between November 2023 and February 2024. In addition, the use of protective measures against mosquito bites was assessed. Methods A retrospective cross-sectional study was conducted on a total of 1,579 blood donors. All sera were tested for anti-WNV IgG by ELISA. Reactive serum samples were also tested by CLIA and by the plaque reduction neutralization test (PRNT). All healthy donors answered a short anonymous questionnaire. Data analysis was performed using StataMP14.0® (StataCorp LLC, CollegeStation, TX77845-4512, USA). Results The median age was 47 years (IQR: 37–53), and 75% were male. The questionnaires administered revealed that 68.6% of the subjects had not made any trips in the few weeks prior to blood sampling, and 30.5% remembered being bitten by mosquitoes in the previous 15 days or longer. While 17 samples tested by ELISA were positive for anti-WNV IgG, only six were also positive by CLIA testing. Analysis by PRNT for WNV confirmed 5 cases. The findings revealed a WNV seroprevalence of 0.32% (95% CI: 0.07–0.59). Among the subjects who tested positive, none recalled being bitten by mosquitoes or regularly using mosquito repellents. Conclusions Our study suggests the circulation of WNV in Apulia and highlights the potential human health concerns associated with this emerging virus. Strengthening the integrated surveillance system and planning adequate preventive strategies are crucial next steps to address the potential massive spread of WNV in southern Italy.

Background Thrombotic microangiopathy has been invoked as one of the most important mechanisms of damage in COVID-19 patients. Protease ADAMTS13 is a marker of microangiopathy responsible for controlling von Willebrand multimers size. Von Willebrand factor/ADAMTS13 ratio has been found impaired in COVID-19 patients outside pregnancy. Methods We prospectively investigated 90 pregnant women admitted to two tertiary academic hospitals in Italy with a laboratory-confirmed diagnosis of SARS-CoV-2 infection. Demographic, clinical information and routine laboratory data were collected at the hospital admission and until discharge. We investigated whether vonWillebrand /ADAMTS13 axis imbalance is a predictor of adverse outcomes. Logistic regression analysis, which controlled for potential confounders, was performed to evaluate the association between laboratory parameters and clinical outcomes. Results Most women (55.6%) were parae, with median gestational age at admission of 39 weeks. At hospital admission, 63.3% were asymptomatic for COVID-19 and 24.4% showed more than one sign or symptom of infection. Nulliparae with group O showed Willebrand / ADA MTS-13 ratios significantly lower than non-O, whereas in multiparae this difference was not observed. Logistic regression showed that ratio von Willebrand to ADAMTS13 was significantly and independently associated with preterm delivery (OR 1.9, 95%CI 1.1–3.5). Conclusion This study shows an imbalance of vonWillebrand /ADAMTS13 axis in pregnant women with COVID-19, leading to a significantly higher and independent risk of preterm delivery. Monitoring these biomarkers might support decision making process to manage and follow-up pregnancies in this setting.

The coronavirus disease 2019 (Covid-19) pandemic is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and presents a global health emergency that needs urgent intervention. Viruses constantly change through mutation, and new variants of a virus are expected to occur over time. In the United Kingdom (UK), a new variant called B.1.1.7 has emerged with an unusually large number of mutations. The aim of this study is to evaluate the level of protection of sera from 12 patients infected and later healed in Apulia Region (Italy) with Covid-19 between March and November 2020, when the English variant was not circulating in this territory yet, against the new VOC 202012/01 variant by seroneutralization assay. The sera of patients had already been tested before, using a virus belonging to the lineage B.1 and showed an antibody neutralizing titer ranging between 1:160 and 1:320. All the 12 sera donors confirmed the same titers of neutralizing antibodies obtained with a strain belonging to the lineage B.1.1.7 (VOC 202012/01). These data indicate that antibodies produced in subjects infected with variants of Sars-CoV-2 strain before the appearance of the English one, seem to have a neutralizing power also against this variant.

Drug addiction, or substance use disorder (SUD), is a chronic, relapsing disorder in which compulsive drug-seeking and drug-taking behaviour persist despite serious negative consequences. Drug abuse represents a problem that deserves great attention from a social point of view, and focuses on the importance of genetic studies to help in understanding the genetic basis of addiction and its medical treatment. Despite the complexity of drug addiction disorders, and the high number of environmental variables playing a role in the onset, recurrence, and duration of the symptoms, several studies have highlighted the non-negligible role of genetics, as demonstrated by heritability and genome-wide association studies. A correlation between the relative risk of addiction to specific substances and heritability has been recently observed, suggesting that neurobiological mechanisms may be, at least in part, inherited. All these observations point towards a scenario where the core neurobiological factors of addiction, involving the reward system, impulsivity, compulsivity, stress, and anxiety response, are transmitted, and therefore, genes and mutations underlying their variation might be detected. In the last few years, the development of new and more efficient sequencing technologies has paved the way for large-scale studies in searching for genetic and epigenetic factors affecting drug addiction disorders and their treatments. These studies have been crucial to pinpoint single nucleotide polymorphisms (SNPs) in genes that affect the reaction to medical treatments. This is critically important to identify pharmacogenomic approaches for substance use disorder, such as OPRM1 SNPs and methadone required doses for maintenance treatment (MMT). Nevertheless, despite the promising results obtained by genome-wide association and pharmacogenomic studies, specific studies related to population genetics diversity are lacking, undermining the overall applicability of the preliminary findings, and thus potentially affecting the portability and the accuracy of the genetic studies. In this review, focusing on cannabis, cocaine and heroin use, we report the state-of-the-art genomics and pharmacogenomics of SUDs, and the possible future perspectives related to medical treatment response in people that ask for assistance in solving drug-related problems.

Lymphoma and plasma cell disorders are the most common indications for autologous hematopoietic stem cell (HSC) transplantation. We conducted a prospective multicenter study with the aim of testing the feasibility of plerixafor (PLX) in combination with R-DHAP and G-CSF in 37 patients with relapsed refractory diffuse large B-cell lymphoma (R/R DLBCL) in order to collect a large number of HSC with a goal of transplantation. After R-DHAP, daily monitoring of peripheral blood CD34 + cells by flow cytometry was performed starting on day + 13. If, on day + 14, peripheral blood CD34 + cells were > 20 × 10e6/L apheresis was started, if they were < 20 × 10e6/L and WBC > 4.0 × 10e9/L, PLX was administered. Results: The median CD34 + cell count collected was 10.5 × 10e6/kg (range 0–51). 81% of patients achieved the minimum CD34 + target cell count of 6 × 10e6/kg. 66% of patients required only one apheresis to achieve collection goals. The rate of engraftment was 10 days for neutrophils > 0.5 × 10e9/L and 13 days for platelets > 20 × 10e9/L. In conclusion, the addition of PLX to salvage therapy in patients with R/R DLBCL is effective and may be routinely used in the future to increase the number of CD34 + cells collected and minimize the risk of poor mobilization.

Serological assays are useful in investigating the development of humoral immunity against SARS-CoV-2 in the context of epidemiological studies focusing on the spread of protective immunity. The plaque reduction neutralization test (PRNT) is the gold standard method to assess the titer of protective antibodies in serum samples. However, to provide a result, the PRNT requires several days, skilled operators, and biosafety level 3 laboratories. Therefore, alternative methods are being assessed to establish a relationship between their outcomes and PRNT results. In this work, four different immunoassays (Roche Elecsys® Anti SARS-CoV-2 S, Snibe MAGLUMI® SARS-CoV-2 S-RBD IgG, Snibe MAGLUMI® 2019-nCoV IgG, and EUROIMMUN® SARS-CoV-2 NeutraLISA assays, respectively) have been performed on individuals healed after SARS-CoV-2 infection. The correlation between each assay and the reference method has been explored through linear regression modeling, as well as through the calculation of Pearson’s and Spearman’s coefficients. Furthermore, the ability of serological tests to discriminate samples with high titers of neutralizing antibodies (>160) has been assessed by ROC curve analyses, Cohen’s Kappa coefficient, and positive predictive agreement. The EUROIMMUN® NeutraLISA assay displayed the best correlation with PRNT results (Pearson and Spearman coefficients equal to 0.660 and 0.784, respectively), as well as the ROC curve with the highest accuracy, sensitivity, and specificity (0.857, 0.889, and 0.829, respectively).

This is an observational multicentric cross-sectional study aiming at assessing the association between ABO blood groups and SARS-CoV-2 seroprevalence among the blood donors in Puglia region. Data on ABO and Rh blood groups and demographic characteristics were obtained from Blood Bank Information System. All donors were screened for SARS-CoV-2 IgG antibodies. Comparison of seroprevalence among blood groups and the association between the recorded variables and seroprevalence were evaluated. A total of 35,709 donors from 22 centers were included, with a seroprevalence of 6.8%. The distribution of ABO phenotypes was blood type O (46.8%), A (34.0%), B (14.7%), and AB (4.5%). Among the 2416 donors reactive for SARS-CoV-2 IgG, the prevalent phenotype was blood type O (43.1%), followed by A (37.7%), B (14.2%), and AB (5%). The seroprevalence of phenotype A and AB was 7.5%, followed by B (6.5%) and O (6.2%). According to the adjusted analysis, there was an increase in seroprevalence in groups A and AB, compared to group O, and an increase in males compared to females. A possible effect modification was observed after stratifying for sex (p = 0.0515). A significantly lower prevalence of blood type O was found compared to A and AB, whereas no association was observed between Rh factor and seroprevalence. We hypothesized that the A antigen present in blood type A and AB can play a role in the binding of SARS-CoV-2 to ACE2 receptors, resulting in an increased risk of infection. Furthermore, natural anti-A/anti-B antibodies produced in group O could block viral adhesion to cells and explain a lower risk of infection.

Mosquito-borne diseases are an emerging threat in Europe. West Nile virus (WNV) is an arbovirus commonly transmitted in an enzootic cycle involving ornithophilic mosquitoes as major vectors. In recent years, global climate change has been identified as a significant driver of the increased spread of this virus. In Italy, outbreaks of WNV infection have been recorded every year in northern Italy. The Apulia region of southern Italy was not considered a high-risk region until 2023, when an unexpected increase in WNV infections occurred. The aim of this study was to evaluate the prevalence of anti-WNV antibodies in a wide sample of blood donors in the Apulia region of southern Italy enrolled between November 2023 and February 2024. In addition, the use of protective measures against mosquito bites was assessed. A retrospective cross-sectional study was conducted on a total of 1,579 blood donors. All sera were tested for anti-WNV IgG by ELISA. Reactive serum samples were also tested by CLIA and by the plaque reduction neutralization test (PRNT). All healthy donors answered a short anonymous questionnaire. Data analysis was performed using StataMP14.0® (StataCorp LLC, CollegeStation, TX77845-4512, USA). The median age was 47 years (IQR: 37-53), and 75% were male. The questionnaires administered revealed that 68.6% of the subjects had not made any trips in the few weeks prior to blood sampling, and 30.5% remembered being bitten by mosquitoes in the previous 15 days or longer. While 17 samples tested by ELISA were positive for anti-WNV IgG, only six were also positive by CLIA testing. Analysis by PRNT for WNV confirmed 5 cases. The findings revealed a WNV seroprevalence of 0.32% (95% CI: 0.07-0.59). Among the subjects who tested positive, none recalled being bitten by mosquitoes or regularly using mosquito repellents. Our study suggests the circulation of WNV in Apulia and highlights the potential human health concerns associated with this emerging virus. Strengthening the integrated surveillance system and planning adequate preventive strategies are crucial next steps to address the potential massive spread of WNV in southern Italy.