Box Behnken design-based optimized extraction of non-dioxin-like PCBs for GC-ECD and GC-MS analyses in milk samples

Abstract A multivariate optimization process of the sample extraction procedure by Box-Behnken design through a global desirability function is described for the determination of six non-dioxin-like polychlorinated biphenyls (NDL-PCBs # 28, 52, 101, 153, 138 and 180) in milk by GC-ECD and mass spectrometry. Three factors were involved in refining the extraction conditions: the acetone percentage in the extraction mixture, the sample/solvent ratio, and the extraction time. The three-factor design required 26 experiments that were carried out in duplicate and in a randomized order to minimize the bias effects of uncontrolled variables. The optimized factors (acetone percentage: 30%; sample-to-solvent ratio: 0.11 g mL−1; extraction time: 45 min) ensured a low solvent consumption and a reduced extraction time, allowing a rapid and simultaneous preparation of multiple sample extracts. The method was validated according to the European directives (Decision 657/2002/EC, SANTE 2017/11813/EC) through the evaluation of linearity, selectivity, LOD, LOQ, recovery, precision, and ruggedness

Determinants of Sicilian Wine Consumption: Evidence from a Binary Response Model

The growing importance of Sicilian wines in the Italian market provides the context in which this paper is set. This study presents the results of a recent survey on Sicilian wine consumption in Italy. By means of a binary response model, this paper evaluates the main determinants (demographic profile, preference and attitudes) that influence Italian consumers' preferences for Sicilian wines. The estimates, based on the stated preference of 953 Italian wine consumers, emphasize that income and habits to purchase at wine shops and the habit to drink between meals significantly influence the willingness to consume Sicilian wines. Furthermore the sample propensity to consume the Sicilian wine increases for white wines and when the consumption takes placed in public spaces

In vivo validation of the adequacy calculator for continuous renal replacement therapies

INTRODUCTION: The study was conducted to validate in vivo the Adequacy Calculator, a Microsoft Excel-based program, designed to assess the prescription and delivery of renal replacement therapy in the critical care setting. METHODS: The design was a prospective cohort study, set in two intensive care units of teaching hospitals. The participants were 30 consecutive critically ill patients with acute renal failure treated with 106 continuous renal replacement therapies (CRRT). Urea clearance computation was performed with the Adequacy Calculator (K(CALC)). Simultaneous blood and effluent urea samples were collected to measure the effectively delivered urea clearance (K(DEL)) at the beginning of each treatment and, during 73 treatments, between the 18th and 24th treatment hour. The correlation between 179 computed and 179 measured clearances was assessed. Fractional clearances for urea were calculated as spKt/V (where sp represents single pool, K is clearance, t is time, and V is urea volume of distribution) obtained from software prescription and compared with the delivered spKt/V obtained from empirical data. RESULTS: We found that the value of clearance predicted by the calculator was strongly correlated with the value obtained from computation on blood and dialysate determination (r = 0.97) during the first 24 treatment hours, regardless of the renal replacement modality used. The delivered spKt/V (1.25) was less than prescribed (1.4) from the Adequacy Calculator by 10.7%, owing to therapy downtime. CONCLUSION: The Adequacy Calculator is a simple tool for prescribing CRRT and for predicting the delivered dose. The calculator might be a helpful tool for standardizing therapy and for comparing disparate treatments, making it possible to perform large multi-centre studies on CRRT

The 2016 Italian seismic hazard model

The Italian reference seismic hazard model was released in 2004, but it has been adopted for the definition of seismic zones in 2006 and for building code only in 2009. At the beginning of 2015 the Seismic Hazard Center (CPS) of INGV was commissioned to coordinate the national scientific community with the aim of elaborating a new reference seismic hazard model, mainly finalized to the update of seismic code. The CPS designed a roadmap to release within 2 years a significantly renewed model, with regard both to the updated input elements and to the strategies to follow, in order to obtain a shared and largely accepted PSHA. The main requirements of the model were discussed in meetings with the experts on earthquake engineering. A public call was opened according to a transparent procedure; we received 24 proposals from many national institutions. The activities were organized in 6 tasks: project coordination, input data, seismicity models, ground motion prediction equations, computation and rendering, validation. In the first phase, the working groups of each task worked separately; in the second phase of the project they collaborated to release a final model. During the project, many scientific aspects were carefully considered, as in many other seismic hazard projects: the use of a declustered catalogue versus a non declustered one, the adoption of the logic-tree approach instead of an ensemble modeling, the definition of objective strategies to assign the weight to each single model, and so on.PublishedSantiago Chile5T. Modelli di pericolosità sismica e da maremot

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry

OBJECTIVES: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers ( 64 8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence of additional extra-muscular features, have been associated with the shortest D4Z4 reduced alleles with 1-3 repeats (1-3 DRA). We searched for signs of perinatal onset and evaluated disease outcome through the systematic collection of clinical and anamnestic records of de novo and familial index cases and their relatives, carrying 1-3 DRA. SETTING: Italy. PARTICIPANTS: 66 index cases and 33 relatives carrying 1-3 DRA. OUTCOMES: The clinical examination was performed using the standardised FSHD evaluation form with validated inter-rater reliability. To investigate the earliest signs of disease, we designed the Infantile Anamnestic Questionnaire (IAQ). Comparison of age at onset was performed using the non-parametric Wilcoxon rank-sum or Kruskal-Wallis test. Comparison of the FSHD score was performed using a general linear model and Wald test. Kaplan-Meier survival analysis was used to estimate the age-specific cumulative motor impairment risk. RESULTS: No patients had perinatal onset. Among index cases, 36 (54.5%) showed the first signs by 10 years of age. The large majority of patients with early disease onset (26 out of 36, 72.2%) were de novo; whereas the majority of patients with disease onset after 10 years of age were familial (16, 53.3%). Comparison of the disease severity outcome between index cases with age at onset before and over 10 years of age, failed to detect statistical significance (Wald test p value=0.064). Of 61 index cases, only 17 (27.9%) presented extra-muscular conditions. Relatives carrying 1-3 DRA showed a large clinical variability ranging from healthy subjects, to patients with severe motor impairment. CONCLUSIONS: The size of the D4Z4 allele is not always predictive of severe clinical outcome. The high degree of clinical variability suggests that additional factors contribute to the phenotype complexity

Case Report: Liver Cysts and SARS-CoV-2: No Evidence of Virus in Cystic Fluid

Background: In December 2019, an outbreak of pneumonia, caused by a new type of coronavirus, named severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). It quickly spread worldwide, resulting in a pandemic. The clinical manifestations of SARS-CoV-2 range from mild non-specific symptoms to severe pneumonia with organ function damage. In addition, up to 60% of patients have liver impairment or dysfunction, confirmed by several studies by the presence of SARS-CoV-2 in the liver tissue.Methods: We report two cases of symptomatic liver cyst requiring fenestration after recent SARS-CoV-2 infection. Both patients had hospital admission due to documented SARS-CoV-2 infection. Recently, after the infection, they developed symptoms caused by an enlarged hepatic cyst: one had abdominal pain, and the other had jaundice. They underwent surgery after two negative swab tests for SARS-CoV-2.Results: Cystic fluid was sent for microbiological test, and real-time fluorescence polymerase chain reaction COVID-19 nucleic-acid assay of the cyst fluid was found to be negative in both cases.Discussion: Although there are no current data that can document a viral contamination of cystic fluid, there are data that document a hepatotropism of COVID-19 virus. Herein we report that after viral clearance at pharyngeal and nasal swab, there is no evidence of viral load in such potential viral reservoir

BRCA1 and BRCA2 mutations in central and southern Italian patients

INTRODUCTION: Germline BRCA1 and BRCA2 mutations account for most hereditary breast/ovarian cancers and are associated with male breast cancer. Furthermore, constitutional mutations in these genes may occur in breast/ovarian cancer patients that do not meet stringent criteria of autosomal-dominant predisposition. The relevance of BRCA1 and BRCA2 mutations in such patients is still debated. OBJECTIVES: We sought to determine the impact of BRCA1 and BRCA2 mutations in a population of patients from central and southern Italy. We analyzed the BRCA1 and BRCA2 coding regions in 136 unrelated probands: 117 females with breast/ovarian cancer and 19 males with breast cancer. This population of patients was mostly representative of cases who are at risk for hereditary susceptibility, but who do not meet stringent criteria of autosomal-dominant predisposition. METHODS: Probands, subclassified as follows, were consecutively recruited depending on informed consent from patients attending breast cancer clinics in Rome and Naples. Selection criteria for females were as follows: breast cancer with breast cancer family history [one to two first-/second-degree relative(s), n = 55]; breast cancer diagnosed before age 40 years (no breast/ovarian cancer family history, n = 28); bilateral breast cancer (regardless of age and family history, n =10); breast cancer associated with gastrointestinal, pancreatic or uterine cancers [synchronous/metachronous or in first-degree relative(s), n = 9]; breast or ovarian cancer with family history of breast-ovarian/ovarian cancer (at least 1 first-/ second-degree relative, n = 10); and ovarian cancer with no breast/ovarian cancer family history (n = 5). Males with breast cancer were recruited regardless of age and family history. BRCA1 exon 11 and BRCA2 exons 10 and 11 were screened by PTT. Coding BRCA1 exons 2, 3, 5-10 and 12-24 and BRCA2 exons 2-9 and 12-27 were screened by SSCP. Primers are listed in Table 1. In 27 cases, analyzed by PTT along the entire BRCA1 coding sequence, BRCA1 SSCP analysis was limited to exons 2, 5, 20 and 24. Mutations were verified by sequence analysis on two independent blood samples. RESULTS: Deleterious germline BRCA1/BRCA2 mutations were detected in 11 out of 136 cases (8%). Only three BRCA2 mutations were novel. One BRCA2 mutation recurred in two unrelated probands. Table 2 shows the mutations and data concerning carriers and their families. Table 3 shows correlations between BRCA1/BRCA2 mutations and sex, age at disease diagnosis and familial clustering of breast/ovarian cancer in the total patient population. Table 4 shows the proportions of BRCA1 and BRCA2 mutations in females with site-specific breast and breast-ovarian/ovarian cancer. Table 5 shows the frequency of BRCA1/BRCA2 mutations in males. BRCA1 and BRCA2 mutations, respectively, accounted for four out of 68 (6%) and one out of 68 (1%) cases diagnosed before age 50 years, and for one out of 68 (1%) and five out of 68 (7%) cases diagnosed after age 50 years. BRCA1 mutations were found in five out of 117 females (4%) and in none of 19 males (0%), and BRCA2 mutations were found in four out of 117 females (3%) and in two out of 19 males (10%). The proportions of BRCA1 and BRCA2 mutations coincided in site-specific female breast cancers (four out of 102; ie 4% each). BRCA1 and BRCA2 equally contributed to female breast cancers, with no familial clustering in those diagnosed before age 40 years (one out of 28; 4% each), and to female breast cancers, all ages, with familial clustering in one to two relatives (three out of 55; ie 5% each). In the latter subset of cases, BRCA1 mostly accounted for tumours diagnosed before age 40 years (two out of eight; 25%), and BRCA2 for tumours diagnosed after age 50 years (three out of 34; 9%). Regardless of family history, the respective contributions of BRCA1 and BRCA2 to site-specific female breast cancers diagnosed before age 40 years were 8% (three out of 36) and 3% (one out of 36). One BRCA1 mutation was detected among the 15 female probands from breast-ovarian/ovarian cancer families (7%). Among male breast cancers, BRCA2 mutations were identified in one out of five (20%) cases with family history and in one out of 14 (7%) apparently sporadic cases. No BRCA1 or BRCA2 mutations were found in female probands with nonfamilial bilateral breast cancer (10 cases) or in those with breast cancer associated with gastrointestinal, pancreatic or uterine cancers, synchronous/metachronous or in first-degree relative(s) (nine cases). These cases were all diagnosed after age 40 years. DISCUSSION: Our results indicate a lack of relevant founder effects for BRCA1- and BRCA2-related disease in the sample of patients studied, which is consistent with other Italian studies and with ethnical and historical data. Overall, the contribution of BRCA1 and BRCA2 to breast/ovarian cancer in Italian patients appears to be less significant than in patients from communities with founder mutations. The present study is in agreement with direct estimates on other outbred populations, indicating that 7-10% of all female breast cancers that occur in patients aged under 40 years are due to BRCA1/BRCA2. We found that BRCA1 and BRCA2 equally contributed to site-specific breast cancers who had one/two breast cancer-affected first-/second-degree relative(s) or who were diagnosed within age 40 years in the absence of family history. This is consistent with recent data that indicated that the respective frequencies of BRCA1 and BRCA2 mutations are comparable in early onset breast cancer. Considering the total population of patients analyzed here, however, BRCA1 and BRCA2 mutations were mostly found in cases with disease diagnosis before and after age 50 years, respectively. Moreover, in cases with familial clustering of site-specific breast cancer, BRCA1 mostly accounted for tumours diagnosed before age 40 years, and BRCA2 for tumours diagnosed after age 50 years. This is in agreement with a trend, which has been observed in other populations, for the proportion of cases with BRCA2 mutations to increase, and the proportion with mutations in BRCA1 to decrease, as the age at cancer onset increases. As in other studies, the frequency of BRCA1/BRCA2 mutations taken together was lower than the estimated frequencies at comparable ages for all susceptibility alleles derived from the Contraceptive and Steroid Hormones (CASH) study. The discrepancy between direct data deriving from BRCA1/BRCA2 mutational analysis and CASH estimates could be due to several factors, including contribution of gene(s) other than BRCA1/BRCA2, differences between populations and relative insensitivity of mutational screening. Only BRCA1 mutations were found in breast/ovarian and site-specific ovarian cancer families. BRCA2, but not BRCA1 mutations were found in the male breast cancers. The overall proportion of males with BRCA2 mutations was high when compared with data from other studies on outbred populations, but was low compared with data from populations with founder effects. The present results should be regarded as an approximation, because the following types of mutation are predicted to escape detection by the screening strategy used: mutations in noncoding regions; missense mutations within BRCA1 exon 11 and BRCA2 exons 10 and 11; large gene deletions; and mutations within the first and last 180 nucleotides of the amplicons analyzed by PTT

Osteoimmunology of Spondyloarthritis

: The mechanisms underlying the development of bone damage in the context of spondyloarthritis (SpA) are not completely understood. To date, a considerable amount of evidence indicates that several developmental pathways are crucially involved in osteoimmunology. The present review explores the biological mechanisms underlying the relationship between inflammatory dysregulation, structural progression, and osteoporosis in this diverse family of conditions. we summarize the current knowledge of bone biology and balance and the foundations of bone regulation, including bone morphogenetic protein, the Wnt pathway, and Hedgehog signaling, as well as the role of cytokines in the development of bone damage in SpA. other areas surveyed include the pathobiology of bone damage and systemic bone loss (osteoporosis) in SpA and the effects of pharmacological treatment on focal bone damage. Lastly, we present data relative to a survey of bone metabolic assessment in SpA from Italian bone specialist rheumatology centers. The results confirm that most of the attention to bone health is given to postmenopausal subjects and that the aspect of metabolic bone health may still be underrepresented. In our opinion, it may be the time for a call to action to increase the interest in and focus on the diagnosis and management of SpA

Стан та перспективи конкурентоспроможності галузі національного господарства в умовах глобалізації

Метою дослідження є узагальнення нових теоретичних положень розвитку галузей економіки в умовах глобалізації, визначення загальних конкурентних переваг хімічної галузі України та практичних напрямів сучасного розвитку економіки країни