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Aim: Although the presence of psychotic symptoms has been widely recognized in Borderline Personality Disorder (BPD), no study previously investigated cognitive Basic Symptoms (BS) and their clinical implications in patients with BPD., Methods: This cross-sectional study specifically examined the prevalence of COGDIS (cognitive disturbances) BS criteria in 93 help-seeking outpatients with BPD by using the Schizophrenia Proneness Instrument-Adult Version (SPI-A). We then explored associations of COGDIS with personality traits, functioning and core psychopathological features of BPD., Results: The prevalence rates of COGDIS criterion were 62.4%. BPD patients meeting COGDIS criteria reported higher levels of schizotypal personality traits, dissociative experiences and work/social functional impairment compared to individuals without COGDIS criteria. Furthermore, the number of cognitive BSs showed a positive correlation with severity levels of schizotypy., Conclusions: Cognitive BS are common in BPD. Cognitive disturbances are associated with schizotypal personality traits and specific clinical features. The presence of cognitive BSs may identify a more severe subgroup of patients with BPD, potentially vulnerable to psychotic symptoms and reliably identifiable through assessment of schizotypal traits., (© 2024 John Wiley & Sons Australia, Ltd.)

Chlorinated ethene (CE) contaminants are widespread in groundwater, and the occurrence of vinyl chloride (VC), among others, is a well-known issue due to its mobility, persistence, and carcinogenicity. Human exposure to VC may occur through inhalation after soil vapor intrusion into buildings at sites with shallow underground contamination. Soil vapor intrusion risk is traditionally assessed through indoor air and sub-slab sampling (direct evidence) or soil gas and groundwater surveys (indirect evidence). Phytoscreening (sampling and analysis of tree trunk matrices) was proven as a cost-effective alternative technique to indirectly detect shallow underground contamination by higher chlorinated ethenes and subsequent vapor intrusion risk. However, the technique has appeared barely capable to screen for the lower chlorinated VC, likely due to its fugacity and aerobic bio-degradability, with only one literature record to date showing successful detection in trees. We applied phytoscreening at two sites with severe CE contamination nearby residential buildings caused by illegal dumping of chlorinated pitches from petrochemical productions. The two sites show variable amounts of VC in the shallow groundwater (1e2 to 1e4 μg/L), posing potential sanitary risk issues. Former soil gas surveys did not detect VC in the vadose zone. At both sites, we sampled trunk micro-cores and trunk gas from poplar trees close to contaminated piezometers in different seasons. VC was detected in several instances, disproving the shared literature assumption of the inefficacy of phytoscreening towards this compound. Factors influencing the detectability of VC and other CEs in trees were analyzed through linear regressions. Two different conceptual models were proposed to explain the effective uptake of VC by trees at the two sites, i.e., direct uptake of contaminated groundwater at the first site and uptake of VC from an anoxic vadose zone at the second site. In planta reductive dechlorination of CEs is not expected based on current literature knowledge. Thus, the detection of VC in trunks would indicate its occurrence in the shallow underground, suggesting higher screening effectiveness of phytoscreening compared to soil gas; this has implications for indirect vapor intrusion risk assessment., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

Objective: During the last few years, an increasing number of studies have focused on the association between neuroplasticity and affective disorders. The aim of the study is to evaluate the interactive effect of stressful life events (SLEs) and genes involved in neuroplasticity (BDNF and ST8SIA) on the short-term response to antidepressant treatment., Methods: A total of 114 patients affected by mood or anxiety disorders under antidepressant treatment were enrolled in the study. We evaluated the interactive effects of three BDNF single-nucleotide polymorphisms (SNPs) and five ST8SIA SNPs and SLEs at different time points (childhood SLEs, SLEs at illness onset, and SLEs reported over the last preceding treatment) over 1-month of antidepressant treatment., Results: Carriers of some genetic variants in both BDNF and ST8SIA had a slower response to antidepressants if non-exposed to the onset SLEs, whereas they had a similar trend compared with the carriers of the opposite variant if exposed (allelic analysis: BDNF p = 0.00003, p = 0.00609; ST8SIA p = 0.04, p = 0.033). The BDNF haplotype analysis confirmed this trend (p = 0.00016)., Conclusions: Though our results are limited by the small sample size, variants in BDNF and ST8SIA may slow down the early response to antidepressants in subjects non-exposed to stressors at the illness onset, with a remarkable gene-environment interaction., (Copyright © 2014 John Wiley & Sons, Ltd.)

The molecular pathogenesis of primary mielofibrosis (PMF) is still largely unknown. Recently, single-nucleotide polymorphism arrays (SNP-A) allowed for genome-wide profiling of copy-number alterations and acquired uniparental disomy (aUPD) at high-resolution. In this study we analyzed 20 PMF patients using the Genome-Wide Human SNP Array 6.0 in order to identify novel recurrent genomic abnormalities. We observed a complex karyotype in all cases, detecting all the previously reported lesions (del(5q), del(20q), del(13q), +8, aUPD at 9p24 and abnormalities on chromosome 1). In addition, we identified several novel cryptic lesions. In particular, we found a recurrent alteration involving cytoband 20p13 in 55% of patients. We defined a minimal affected region (MAR), an amplification of 9,911 base-pair (bp) overlapping the SIRPB1 gene locus. Noteworthy, by extending the analysis to the adjacent areas, the cytoband was overall affected in 95% of cases. Remarkably, these results were confirmed by real-time PCR and validated in silico in a large independent series of myeloproliferative diseases. Finally, by immunohistochemistry we found that SIRPB1 was over-expressed in the bone marrow of PMF patients carrying 20p13 amplification. In conclusion, we identified a novel highly recurrent genomic lesion in PMF patients, which definitely warrant further functional and clinical characterization.

Beta-thalassemia major is characterized by ineffective erythropoiesis leading to severe anemia and extensive erythroid expansion. The ineffective erythropoiesis is in part due to accelerated apoptosis of the thalassemic erythroid precursors; however, the extent of apoptosis is surprisingly variable. To understand this variability as well as the fact that some patients undergoing allogeneic marrow transplantation are resistant to the myeloablative program, we attempted more quantitative analyses. Two groups of patients totaling 44 were studied, along with 25 healthy controls, and 7 patients with hemolysis and/or ineffective erythropoeisis. By 2 flow cytometric methods, thalassemic erythroid precursors underwent apoptosis at a rate that was 3 to 4 times normal. Because thalassemic marrow has between 5- to 6-fold more erythroid precursors than healthy marrow, this translated into an absolute increase in erythroid precursor apoptosis of about 15-fold above our healthy controls. In searching for the causes of the variability in thalassemic erythroid precursor apoptosis, we discovered tight direct correlations between the relative and absolute extent of apoptosis and the extent of erythroid expansion as measured either by the absolute number of marrow erythroid precursors or by serum soluble transferrin receptor levels. These results could mean that the most extreme rates of erythroid proliferation lend themselves to cellular errors that turn on apoptotic programs. Alternatively, extreme rates of erythroid hyperplasia and apoptosis might be characteristic of more severely affected patients. Lastly, extreme erythroid hyperplasia could generate such numbers of apoptotic erythroid precursors that marrow macrophages are overwhelmed, leaving more apoptotic cells in the sample.