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Background and objectives: ischemic stroke (IS) is among the most frequent causes of death worldwide, thus, it is of paramount relevance to know predisposing factors that may help to identify and treat the high-risk subjects. Materials and Methods:we tested nine variants in genes involved in thrombotic pathway in 282 patients that experienced IS and 87 that had transient ischemic attacks (TIA) in comparison to 430 subjects from the general population (GP) of the same geographic area (southern Italy). We included cases of young and child IS to evaluate the eventual differences in the role of the analyzed variants. Results: we did not observe significant differences between TIA and the GP for any of the variants, while the allele frequencies of methylene-tetrahydrofolate reductase (MTHFR) C677T, beta-fibrinogen -455G&gt, A and factor (FXIII) V34L were significantly higher in patients with IS than in the subjects from the GP. No significant interaction was observed with sex. Conclusions: the present data argue that some gene variants have a role in IS and this appears to be an interesting possibility to be pursued in large population studies to help design specific strategies for IS prevention.

Background: Morbidity and mortality of primary and secondary antibody deficiencies (AD) are frequently associated with diagnostic delays. These could be avoided by a combination of factors including a widespread and effective development in screening tests. Methods: Calculated globulin (CG), derived from the difference between serum total protein and albumin levels, reflects immunoglobulin serum levels and has shown to have a predictive value in the early diagnosis of antibody deficiencies. This study investigated the possibility to use low levels of CG to detect antibody deficiency in an Italian University Hospital. Results: First, we conducted an analysis of anonymized adult samples collected at our biochemistry laboratory with a range of calculated globulin levels from 15 to 22 g/l. A CG cut-off of 19 g/l detected subjects with IgG lower than 600 mg/dl with a sensitivity of 70% and a specificity of 75%. To further verify the clinical usefulness of CG, we retrospectively evaluated the relationship between CG values and serum IgG levels in 38 patients diagnosed with CVID at our Institution. Using a CG cut-off of 19 g/l, we detected antibody deficiency in 97.3% (37/38) of the subjects present in our cohort. Conclusion: Finally, we chose a CG value of 19 g/l as the cut-off for a prospective AD screening program. The results of this study show that a screening CG test can be used as a tool to reduce diagnostic delays, improve long-term prognosis and reduce the healthcare costs of antibody deficiency.

Background Celiac disease (CD) is the most common autoimmune enteropathy. Clinical manifestations may range from a typical malabsorption syndrome to several apparently unrelated extra-intestinal symptoms. Aim Here we specifically focus on the spectrum of CD-related liver disorders and the underlying pathomechanisms. Methods A computer-based search up to August 2015 was completed using appropriate keywords. References from selected papers were also reviewed and used if relevant. Results An unexplained hypertransaminasemia with nonspecific histologic hepatic changes is the most common hepatic presentation. CD however can coexist with a number of liver disorders such as Autoimmune Hepatitis, Autoimmune Cholangitis, Primary Biliary Cirrhosis and Primary Sclerosing Cholangitis requiring a specific treatment in addition to gluten-free diet. CD has also been associated with Viral Hepatitis, Fatty Liver, Non-Alcoholic Steatohepatitis and some severe cryptogenic hepatopaties in the liver transplantation list. Pathomechanisms underlying hepatic injury in CD are multiple, appear still not completely defined and may probably co-occur. Conclusions An ever-increasing number of CD-related liver injuries exist, probably representing a continuum of a same disorder where genetic predisposition, timing, and duration of previous gluten exposure might influence the reversibility of liver damage. Evidences, although not conclusive, support therefore testing for CD also in cryptogenic hepatobiliary conditions where the relationship with CD has not yet been fully investigated.

Background Calcium (Ca2+) and vitamin D (VitD) play an important role in child health. We evaluated the daily intake of Ca2+ and VitD in healthy children. Moreover, we demonstrate the efficacy of Ca2+ and VitD supplementation. Methods Daily Ca2 + and VitD intake was evaluated in consecutive healthy children through a validated questionnaire. Subjects with 2+ and VitD were invited to participate in a prospective randomized trial with 2 groups of nutritional intervention: Group 1, dietary counseling aiming to optimize daily Ca2+ and VitD intake plus administration of a commercially available Ca2 + and VitD supplementation product; Group 2, dietary counseling alone. At the enrollment (T0) and after 4 months (T1) serum 25(OH) Vitamin D levels were assessed. Results We evaluated 150 healthy children (male 50%, mean age 10 years); at baseline a low VitD intake was observed in all subjects (median 0.79 μg/die, IQR 1.78; range 0.01-5.02); this condition was associated with Ca2+ intake Conclusions Adequate Ca2+ and VitD intakes are difficult to obtain through dietary counseling alone in pediatric subjects. Oral supplementation with of Ca2+ and VitD is a reliable strategy to prevent this condition. Trial registration The study was registered in Clinical Trials Protocol Registration System (ID number: NCT01638494).

OBJECTIVE: A beneficial role of antioxidants in hepatopathic obese individuals has hitherto been inferred only from uncontrolled pilot studies. The authors compared the effect of vitamin E and weight loss on transaminase values and on ultrasonographic bright liver in a controlled group of children with obesity-related liver dysfunction. METHODS: Twenty-eight children with obesity-related hypertransaminasemia and bright liver were randomly allocated to two single-blind groups: group 1 (n = 14) treated with a low-calorie diet associated with oral placebo for 5 months, and group 2 (n = 14) treated with a low-calorie diet associated with oral vitamin E (400 mg/d x 2 months, 100 mg/d x 3 months). Transaminase values and ultrasonographic liver brightness along with weight loss and vitamin E levels were monitored. RESULTS: Variations in transaminase levels and percentage of patients with normalized transaminase values were comparable in the two groups. The disappearance of bright liver was observed only in patients who lost weight and was twice as common in patients from group 1. Two subgroups of patients with complete normalization of transaminase values emerged as a consequence of controlled adherence to diet alone (n = 6; significant decrease of percent overweight: P = 0.0019 ) and to vitamin E alone (n = 7; unmodified percent overweight and significant increase of vitamin E/cholesterol ratio: P < 0.0001). Changes in treatment-induced alanine aminotransferase levels in these two subgroups were comparable at month 2, whereas values at month 5 were significantly lower in the subgroup adherent to diet alone (P = 0.04). In the subgroup adherent to vitamin E alone, after 2 months washout, transaminase remained stable in 5 patients and increased in 2; bright liver persisted in all. CONCLUSIONS: Oral vitamin E warrants consideration in obesity-related liver dysfunction for children unable to adhere to low-calorie diets.

OBJECTIVES: The purpose of this study was to measure the oxidative and antioxidant biochemical parameters in the serum of Italian patients with age-related maculopathy (ARM) and in a similar age control group from the same area, in order to determine the weight of oxidative status as risk factor in the early stage of macular degeneration onwards. DESIGN AND METHODS: Forty-eight ARM patients (19 early and 29 late form) and 46 normal subjects, similar for age, sex and life-style, were studied. A series of serum and/or plasma antioxidants (vitamins C, E, A, total and individual carotenoids, zinc, total plasma antioxidant capacity--TRAP) and oxidative parameters (reactive oxygen metabolites--ROM, oxidized-low-density lipoprotein antibodies-anti-Ox-LDL) were evaluated in both groups, also with regard to age and disease stage. RESULTS: Levels of vitamins C, E, total carotenoids and beta-cryptoxanthine were lower in late ARM than in early ARM (p

Fresh human blood samples were collected from healthy controls and splenectomized and unsplenectomized patients with hereditary spherocytosis due to band 3 or ankyrin and spectrin deficiency. The erythrocytes were separated into age-related fractions using self-forming Percoll density gradients. Membrane proteins were analysed by 2D electrophoresis and identified by mass spectrometry.Annexin VII was present in reticulocytes but was then lost as the cells matured. A different pattern was found in band 3-deficient samples: annexin VII was in fact present in both mature and immature red cell membranes. Cytoskeletal anomalies may then influence the turn-over of annexin VII during erythrocyte maturation.