26 research outputs found

    Mitochondrial DNA Backgrounds Might Modulate Diabetes Complications Rather than T2DM as a Whole

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    Mitochondrial dysfunction has been implicated in rare and common forms of type 2 diabetes (T2DM). Additionally, rare mitochondrial DNA (mtDNA) mutations have been shown to be causal for T2DM pathogenesis. So far, many studies have investigated the possibility that mtDNA variation might affect the risk of T2DM, however, when found, haplogroup association has been rarely replicated, even in related populations, possibly due to an inadequate level of haplogroup resolution. Effects of mtDNA variation on diabetes complications have also been proposed. However, additional studies evaluating the mitochondrial role on both T2DM and related complications are badly needed. To test the hypothesis of a mitochondrial genome effect on diabetes and its complications, we genotyped the mtDNAs of 466 T2DM patients and 438 controls from a regional population of central Italy (Marche). Based on the most updated mtDNA phylogeny, all 904 samples were classified into 57 different mitochondrial sub-haplogroups, thus reaching an unprecedented level of resolution. We then evaluated whether the susceptibility of developing T2DM or its complications differed among the identified haplogroups, considering also the potential effects of phenotypical and clinical variables. MtDNA backgrounds, even when based on a refined haplogroup classification, do not appear to play a role in developing T2DM despite a possible protective effect for the common European haplogroup H1, which harbors the G3010A transition in the MTRNR2 gene. In contrast, our data indicate that different mitochondrial haplogroups are significantly associated with an increased risk of specific diabetes complications: H (the most frequent European haplogroup) with retinopathy, H3 with neuropathy, U3 with nephropathy, and V with renal failure

    Serum Albumin Is Inversely Associated With Portal Vein Thrombosis in Cirrhosis

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    We analyzed whether serum albumin is independently associated with portal vein thrombosis (PVT) in liver cirrhosis (LC) and if a biologic plausibility exists. This study was divided into three parts. In part 1 (retrospective analysis), 753 consecutive patients with LC with ultrasound-detected PVT were retrospectively analyzed. In part 2, 112 patients with LC and 56 matched controls were entered in the cross-sectional study. In part 3, 5 patients with cirrhosis were entered in the in vivo study and 4 healthy subjects (HSs) were entered in the in vitro study to explore if albumin may affect platelet activation by modulating oxidative stress. In the 753 patients with LC, the prevalence of PVT was 16.7%; logistic analysis showed that only age (odds ratio [OR], 1.024; P = 0.012) and serum albumin (OR, -0.422; P = 0.0001) significantly predicted patients with PVT. Analyzing the 112 patients with LC and controls, soluble clusters of differentiation (CD)40-ligand (P = 0.0238), soluble Nox2-derived peptide (sNox2-dp; P < 0.0001), and urinary excretion of isoprostanes (P = 0.0078) were higher in patients with LC. In LC, albumin was correlated with sCD4OL (Spearman's rank correlation coefficient [r(s)], -0.33; P < 0.001), sNox2-dp (r(s), -0.57; P < 0.0001), and urinary excretion of isoprostanes (r(s), -0.48; P < 0.0001) levels. The in vivo study showed a progressive decrease in platelet aggregation, sNox2-dp, and urinary 8-iso prostaglandin F2 alpha-III formation 2 hours and 3 days after albumin infusion. Finally, platelet aggregation, sNox2-dp, and isoprostane formation significantly decreased in platelets from HSs incubated with scalar concentrations of albumin. Conclusion: Low serum albumin in LC is associated with PVT, suggesting that albumin could be a modulator of the hemostatic system through interference with mechanisms regulating platelet activation

    The Botanical Record of Archaeobotany Italian Network - BRAIN: a cooperative network, database and website

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    Con autorización de la revista para autores CSIC[EN] The BRAIN (Botanical Records of Archaeobotany Italian Network) database and network was developed by the cooperation of archaeobotanists working on Italian archaeological sites. Examples of recent research including pollen or other plant remains in analytical and synthetic papers are reported as an exemplar reference list. This paper retraces the main steps of the creation of BRAIN, from the scientific need for the first research cooperation to the website which has a free online access since 2015.Peer reviewe

    Reaction Time Variability Association with Unsafe Driving

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    This paper investigates several human factors including visual field, reaction speed, driving behavior and personality traits based on results of a cognitive assessment test targeting drivers in a Naturalistic Driving Study (NDS). Frequency of being involved in Near Miss event (fnm) and Frequency of committing Traffic Violation (ftv) are defined as indexes of safe driving in this work. Inference of association shows statistically significant correlation between Standard Deviation of Reaction Time (σRT) and both safe driving indexes fnm and ftv. Causal relationship analysis excludes age as confounding factor as variations in behavioral responses is observed in both younger and older drivers of this study.SimuSafe : Simulator of Behavioural Aspects for Safer Transpor

    Perception of road hazards and cultural beliefs in a Tanzanian Secondary School

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    In Tanzania in 2014, 3,760 people were killed on the roads, and 14,530 were injured (Tanzania Traffic Police, 2015). One barrier to addressing this problem is the fatalistic belief, common in Africa, that a road crash happens \u2018because it has to happen\u2019. However, another possible reason is a lack of knowledge about sources of risk when using the road. The purpose of this research was to test a traffic psychology training program designed to improve risk perception regarding road use among school children in a rural area in Tanzania. 211 Students at a school in the Arusha region of Tanzania received a 2-hour lesson developed and conducted by a traffic psychologist about road safety. The effectiveness of training in improving risk perception was measured through a Static Hazard Perception Task (SHPT) administered pre and post lesson. Results show that students identified a higher average number of hazards in the SHPT after the training than before. Notwithstanding limitations of the research, the results strongly suggest that applying a traffic psychology approach to road safety education fostered reflection in the students, about their experiences as road users. Implications for more effective road safety education in Africa are discussed

    Diagnosis and follow up of Takayasu's arteritis by scintigraphy with radiolabelled interleukin 2.

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    In July 1993 a 17-year-old woman was diagnosed with Takayasu’s arteritis (type I) in the acute stage 1,2 . She had a weak left radial pulse: arterial pressure was 130/70 mm Hg in the right and 100/65 mm Hg in the left arm. Blood tests were in agreement with the diagnosis. The ultrasonographic study and aortography showed a diffuse and circumferential thickening of the intima–media complex resulting in 80% stenosis in the left subclavia distally to the origin of the left vertebral artery (Figure 1A). Therapy with prednisone and acetylsalicylic acid was initiated. She rapidly became free of symptoms and the laboratory tests improved substantially. In February 1994, she complained of recurrent pain, paresthesias of the left arm, and dizziness on neck move- ment. New aortography showed a stenosis of the proximal left subclavia to the origin of the left vertebral artery. Therefore, a new imaging modality was applied to evaluate the activity and extent of the inflammatory process 3 : scinti- graphy with radiolabelled interleukin 2 ( 99m Tc-IL-2). This revealed an abnormal uptake in the area of the left subclavia and at the origin of the left common carotid artery (Figure 2A) indicating the presence of an active process of lympho- cytic infiltration in the arterial wall; methotrexate was added to therapy. In June 1994, all laboratory tests being normal, a percu- taneous transluminal angioplasty was successfully performed (Figure 1B). In June 1998, the therapy was discontinued

    Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management

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    Whole-exome sequencing (WES) is a powerful and comprehensive tool for the genetic diagnosis of rare diseases, but few reports describe its timely application and clinical impact on infantile cardiomyopathies (CM). We conducted a retrospective analysis of patients with infantile CMs who had trio (proband and parents)-WES to determine whether results contributed to clinical management in urgent and non-urgent settings. Twenty-nine out of 42 enrolled patients (69.0%) received a definitive molecular diagnosis. The mean time-to-diagnosis was 9.7 days in urgent settings, and 17 out of 24 patients (70.8%) obtained an etiological classification. In non-urgent settings, the mean time-to-diagnosis was 225 days, and 12 out of 18 patients (66.7%) had a molecular diagnosis. In 37 out of 42 patients (88.1%), the genetic findings contributed to clinical management, including heart transplantation, palliative care, or medical treatment, independent of the patient’s critical condition. All 29 patients and families with a definitive diagnosis received specific counseling about recurrence risk, and in seven (24.1%) cases, the result facilitated diagnosis in parents or siblings. In conclusion, genetic diagnosis significantly contributes to patients’ clinical and family management, and trio-WES should be performed promptly to be an essential part of care in infantile cardiomyopathy, maximizing its clinical utility
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