Pancreatic fatty replacement as risk marker for altered glucose metabolism and cardiac iron and complications in thalassemia major.

Objectives: This multicenter study assessed the extent of pancreatic fatty replacement and its correlation with demographics, iron overload, glucose metabolism, and cardiac complications in a cohort of well-treated patients with thalassemia major (TM).

Methods: We considered 308 TM patients (median age: 39.79 years; 182 females) consecutively enrolled in the Extension-Myocardial Iron Overload in Thalassemia Network.

Myocardial tissue characterization by segmental T2 mapping in thalassaemia major: detecting inflammation beyond iron.

Aims: We measured myocardial T2 values by a segmental approach in thalassaemia major (TM) patients, comparing such values against T2* values for the detection of myocardial iron overload (MIO), evaluating their potential in detecting subclinical inflammation, and correlating with clinical status.

Methods And Results: One-hundred and sixty-six patients (102 females, 38.29 ± 11.

Increased myocardial extracellular volume is associated with myocardial iron overload and heart failure in thalassemia major.

Objectives: Myocardial extracellular volume (ECV) by cardiovascular magnetic resonance (CMR) is a surrogate marker of diffuse fibrosis. We evaluated the association between ECV and demographics, CMR findings, and cardiac involvement in patients with thalassemia major (TM).

Methods: A total of 108 β-TM patients (62 females, 40.

Gender Differences in Knowledge and Perception of Cardiovascular Disease among Italian Thalassemia Major Patients.

We evaluated gender differences in knowledge and perception of cardiovascular disease (CVD) among Italian thalassemia major (TM) patients. An anonymous questionnaire was completed by 139 β-TM patients (87 (62.7%) females, 40.

Deep Learning Staging of Liver Iron Content From Multiecho MR Images.

Background: MRI represents the most established liver iron content (LIC) evaluation approach by estimation of liver T2* value, but it is dependent on the choice of the measurement region and the software used for image analysis.

Purpose: To develop a deep-learning method for unsupervised classification of LIC from magnitude T2* multiecho MR images.

Study Type: Retrospective.

Myocardial iron overload by cardiovascular magnetic resonance native segmental T1 mapping: a sensitive approach that correlates with cardiac complications.

Background: We compared cardiovascular magnetic resonance segmental native T1 against T2* values for the detection of myocardial iron overload (MIO) in thalassaemia major and we evaluated the clinical correlates of native T1 measurements.

Methods: We considered 146 patients (87 females, 38.7 ± 11.

Changing patterns of thalassaemia in Italy: a WebThal perspective.

Background: Migration has impacted the spread of thalassaemia which is gradually becoming a global health problem. Italy, with an approximate estimation of 7,000 patients, does not have an accurate national record for haemoglobinopathies. This cross-sectional evaluation includes data for approximately 50% of beta-thalassaemia patients in Italy to provide an overview of the burden of thalassaemia syndromes.

Investigating the Causal Effect of Brain Expression of , , , , Genes on Multiple Sclerosis: A Two-Sample Mendelian Randomization Approach.

Multiple Sclerosis (MS) exhibits considerable heterogeneity in phenotypic expression, course, prognosis and response to therapy. This suggests this disease involves multiple, as yet poorly understood, causal mechanisms. In this work we assessed the possible causal link between gene expression level of five selected genes related to the pro-inflammatory NF-κB signaling pathway (i.

Acid sensing ion channel 2: A new potential player in the pathophysiology of multiple sclerosis.

Acid-sensing ion channels (ASICs) are proton-gated channels involved in multiple biological functions such as: pain modulation, mechanosensation, neurotransmission, and neurodegeneration. Earlier, we described the genetic association, within the Nuoro population, between Multiple Sclerosis (MS) and rs28936, located in ASIC2 3'UTR. Here we investigated the potential involvement of ASIC2 in MS inflammatory process.

Investigating multiple sclerosis genetic susceptibility on the founder population of east-central Sardinia via association and linkage analysis of immune-related loci.

Background: A wealth of single-nucleotide polymorphisms (SNPs) responsible for multiple sclerosis (MS) susceptibility have been identified; however, they explain only a fraction of MS heritability.

Objectives: We contributed to discovery of new MS susceptibility SNPs by studying a founder population with high MS prevalence.

Methods: We analyzed ImmunoChip data from 15 multiplex families and 94 unrelated controls from the Nuoro Province, Sardinia, Italy.

Enrichment for Northern European-derived multiple sclerosis risk alleles in Sardinia.

Background: The list of genomic loci associated with multiple sclerosis (MS) susceptibility outside the major histocompatibility complex (MHC) in patients of Northern European (NE) ancestry has increased to 103. Despite the extraordinarily high MS prevalence in the isolated Sardinian population, the contribution of genetic risk factors to MS in Sardinia is largely not understood.

Objective: The objective of this paper is to examine the relevance of non-MHC MS susceptibility variants in Sardinia.

Fast generation of T2* maps in the entire range of clinical interest: application to thalassemia major patients.

T2* maps obtained by the processing of multiecho MR sequences can be useful in several clinical applications. T2* map generation procedures should join a processing time compatible with on-line image analysis with a good precision in the entire T2* range of clinical interest. Fast generation of T2* maps can be achieved by the estimation of the T2* values by the weighted linear fitting of the logarithm of the signal (WLSL) method.

Effectiveness of psychological treatments delivered at a counseling service for students.

This study adds to the international literature on the assessment of the effectiveness of psychotherapies delivered by university counseling centers. The present study evaluated the effectiveness of psychotherapy in 226 students (179 women, 47 men; M age = 24.8 yr.

Facial expressions of emotions: recognition accuracy and affective reactions during late childhood.

The present study examined the development of recognition ability and affective reactions to emotional facial expressions in a large sample of school-aged children (n = 504, ages 8-11 years of age). Specifically, the study aimed to investigate if changes in the emotion recognition ability and the affective reactions associated with the viewing of facial expressions occur during late childhood. Moreover, because small but robust gender differences during late-childhood have been proposed, the effects of gender on the development of emotion recognition and affective responses were examined.

Susceptibility to ankylosing spondylitis but not disease outcome is influenced by the level of HLA-B27 expression, which shows moderate variability over time.

Objective: Previous reports have highlighted the relevance of HLA-B27 expression in the pathogenesis of ankylosing spondylitis (AS). The aim of the current study was to estimate the level of HLA-B27 expression on the cell surface of ex vivo monocytes and lymphocytes by a quantitative method and to correlate this with AS disease susceptibility, disease clinical indexes, and the occurrence of acute anterior uveitis (AAU).

Method: We recruited 32 B27-positive patients with AS and 32 B27-positive healthy normal controls (NCs) for evaluation at different time points.

Feasibility, reproducibility, and reliability for the T*2 iron evaluation at 3 T in comparison with 1.5 T.

This study aimed to determine the feasibility, reproducibility, and reliability of the multiecho T*(2) Magnetic resonance imaging technique at 3 T for myocardial and liver iron burden quantification and the relationship between T*(2) values at 3 and 1.5 T. Thirty-eight transfusion-dependent patients and 20 healthy subjects were studied.

Association between protective and deleterious HLA alleles with multiple sclerosis in Central East Sardinia.

The human leukocyte antigen (HLA) complex on chromosome 6p21 has been unambiguously associated with multiple sclerosis (MS). The complex features of the HLA region, especially its high genic content, extreme polymorphism, and extensive linkage disequilibrium, has prevented to resolve the nature of HLA association in MS. We performed a family based association study on the isolated population of the Nuoro province (Sardinia) to clarify the role of HLA genes in MS.

Psychological factors associated with medication adherence following renal transplantation.

Background: A relationship exists between non-adherence and clinical outcomes in health care, including renal transplantation. The aim of this study was to identify the psychological variables associated with non-adherence to medication after renal transplantation.

Methods: This cross-sectional study involved 34 patients, 38% male, with a mean age of 49 yr (range 26-70) and a mean of six yr post-transplantation.

Association between the ACCN1 gene and multiple sclerosis in Central East Sardinia.

Multiple genome screens have been performed to identify regions in linkage or association with Multiple Sclerosis (MS, OMIM 126200), but little overlap has been found among them. This may be, in part, due to a low statistical power to detect small genetic effects and to genetic heterogeneity within and among the studied populations. Motivated by these considerations, we studied a very special population, namely that of Nuoro, Sardinia, Italy.

Patient education in Parkinson's disease: Formative evaluation of a standardized programme in seven European countries.

Objective: To evaluate a newly developed education programme for Parkinson's disease (PD) patients.

Methods: The programme consisted of eight sessions and aimed at improving knowledge and skills related to self-monitoring, health promotion, stress management, depression, anxiety, social competence, and social support, all with special reference to PD. The programme was formatively evaluated in seven European countries (Spain, Finland, Italy, The Netherlands, United Kingdom, Estonia, Germany) with 151 patients diagnosed with idiopathic PD.

Two distinctive HLA haplotypes harbor the B27 alleles negatively or positively associated with ankylosing spondylitis in Sardinia: implications for disease pathogenesis.

Objective: To compare haplotype distribution in HLA-B27-positive patients with ankylosing spondylitis (AS) and healthy control subjects possessing either AS-associated HLA-B27 alleles or the non-AS-associated HLA-B*2709 allele.

Methods: DNA samples from 47 HLA-B27-positive patients with AS and 76 HLA-B27-positive healthy controls (19 positive and 57 negative for B*2709) living in different areas of Sardinia were collected and typed for HLA class I and class II alleles. The third exon of the B27 gene was analyzed for the presence of Asp(116) or His(116), which differentiates B*2709 from the other two B27 subtypes (B*2705 and B*2702) that are mostly found in Sardinia.

Increased level of HLA-B27 expression in ankylosing spondylitis patients compared with healthy HLA-B27-positive subjects: a possible further susceptibility factor for the development of disease.

Objective: In B27 transgenic rats, susceptibility to the development of a spondyloarthropathy-like disease has been shown to correlate with the level of B27 transgene expression on lymphoid cells. The aim of this work was to study HLA-B27 molecule expression in peripheral blood mononuclear cells (PBMCs) from patients with ankylosing spondylitis (AS) and from normal controls (NC).

Methods: Twenty B27(+) AS patients and 16 B27(+) NC were studied.

Association between the ancestral haplotype HLA A30B18DR3 and multiple sclerosis in central Sardinia.

Association and linkage studies have established the importance of the major histocompatibility complex (MHC) in the susceptibility for multiple sclerosis (MS). We carried out a case-control study to investigate the ancestral haplotype A30B18DR3 and MS in the Nuoro population of Sardinia, which is isolated and genetically distinct from other populations in the Mediterranean basin and characterized by genetic homogeneity, high level of inbreeding, low migration, high prevalence of MS, high frequency of the relevant haplotype, and high past malaria prevalence. Cases and controls were serologically typed for the currently recognized HLA-A, B, and DR antigens.

MICA gene triplet repeat polymorphism in patients with HLA-B27 positive and negative ankylosing spondylitis from Sardinia.

Objective: We investigated the distribution of MICA triplet repeat polymorphism in a random population and in patients with seronegative spondyloarthritis from Sardinia compared to continental Italy.

Methods: We analyzed the distribution of MICA triplet repeat polymorphism in HLA-B*2709 [not associated with ankylosing spondylitis (AS)] and B*2705 (associated with AS) haplotypes, to verify whether the strong association of MICA-A4 with HLA-B27 reported in other populations is maintained in Sardinia, and compared the distribution of MICA-A alleles in HLA-B27 negative versus HLA-B27+ patients with AS.

Results: We found that the frequency of MICA-A4 triplet repeat allele in a random Sardinia population is higher (53.

Contingent negative variation and cognitive performance in hypotension.

The difference in attention and cognitive performance between 26 hypotensive (systolic blood pressure < 100 mmHg and diastolic blood pressure < 60 mmHg) and 22 normotensive female university students was assessed. Attention was examined with contingent negative variation (CNV) recorded using light and tone as S1 and S2. Cognitive performance was assessed by free recall of a list of words and two German tests of cognitive speed performance and sustained attention: Zahlen-Verbindungs-Test and d2.