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AbstractBackground:Several studies performed in the last years on the brain, showed that beta2-microglobulin (β2m) and MHC can act independently of their canonical immune function to regulate normal brain development, synaptic plasticity and behaviour. Increased systemic levels of soluble β2m have been implicated in cognitive impairments like that associated with chronic haemodialysis, or aortic valve replacement. Increased soluble β2m has also been detected in the cerebral spinal fluid (CSF) of patients with HIV-associated dementia and Alzheimer’s disease (AD).Objective:To compare plasma β2m levels in healthy subjects and subjects with dementia or cognitive impairment.Methods:We measured the concentration of β2m in a cohort of 245 individuals and compared sex matched, cognitive healthy individuals.Results:We found higher levels of β2m in AD patients compared to non-AD MCI and healthy controls (2063 ng/mL ±852 versus 1613 ± 503 and 1832 ± 382 ng/mL, p< 0.001 and <0.033, respectively), while there was no difference between mild cognitive impairment (MCI) and healthy controls (p > 0.05).Conclusions:Our data confirm that β2m could play a role in AD. However, a replication study in an independent cohort would be necessary to confirm our preliminary results.

The aim of our study was the characterization of anti-cytoplasmic antibodies by home-made morphological and biochemical techniques. Indeed, indirect immunofluorescence (IIF) on HEp-2 cell line is not always exhaustive in relation to the complexity of the antigens involved. Nine serum samples with anti-cytoplasmic antibodies (2 anti-Golgi apparatus, 3 with diffuse pattern and 4 with lysosome/endosome-like pattern) were tested with fluorescent confocal microscopy, Western blot analysis and, when necessary, with electron microscopy technique. Confirmation of the IIF staining pattern was performed in confocal microscopy by comparison with the respective antibody marker. The anti-endoplasmatic reticulum positivity was also confirmed by electron microscopy evaluation. Both anti-lysosome/endosome and anti-endoplasmatic reticulum positivity have been definitely identified by Western blot through clear reactivity with calreticulin and LC3B, respectively. These results do not aim at representing a standard routine laboratory procedure. Electron microscopy evaluation cannot be proposed as a routine approach, but confocal microscopy technique may be offered in centralized reference laboratories. Newer technologies, especially multiplex immunoassay, can also lead to an easier identification of these autoantibodies, without recurring to a home-made immunoblotting. Only with a complete characterization we will be able to define the clinical relevance of anti-cytoplasmic antibodies, which are still considered as “esoteric” and not as “diagnostic” antibodies.

Abstract: Vitamin D deficiency is common, though its prevalence varies depending on the characteristics of the study population and the reference values adopted. We have analyzed the data of 25(OH)D levels collected in our laboratory to define the status in an outpatient population and the best cut-point for clinical practice.

Vitamin D deficiency is common, though its prevalence varies depending on the characteristics of the study population and the reference values adopted. We have analyzed the data of 25(OH)D levels collected in our laboratory to define the status in an outpatient population and the best cut-point for clinical practice.

Vitamin D deficiency is common, though its prevalence varies depending on the characteristics of the study population and the reference values adopted. We have analyzed the data of 25(OH)D levels collected in our laboratory to define the status in an outpatient population and the best cut-point for clinical practice.

AbstractChyluria denotes the urinary excretion of chyle, which is a lymphatic fluid rich in chylomicrons. Chyle flows from the intestinal lacteals to the left subclavian vein through the thoracic duct. When an abnormal connection between these structures and the urinary tract develops, chyluria appears. The syndrome is often associated with a nephrotic-range proteinuria, and this could be a wrong indication to perform renal biopsy. Chyluria is classified as parasitic or nonparasitic, the former being induced by lymphatic filariasis, whereas the latter is caused by medical, traumatic or inherited diseases. The patient usually reports excretion of milky urines, monolateral flank pain, malnutrition, weight loss and weakness. Urinalysis demonstrates lymphocyturia associated with chylomicrons and triglycerides in the supernatant. The diagnostic approach is aimed to define the site of lymphourinary fistula. A selective ureteral catheterization allows to collect urine samples from each kidney, demonstrating a monolateral source of proteins and lipids and making renal biopsy superfluous. Other diagnostic tools include nuclear magnetic resonance urography and lymphoangiography. Many therapeutic options have been proposed. Sclerosing solution instillation into the renal pelvis and laparoscopic renal pedicle disconnection are the invasive procedures most commonly employed. Among the medical alternatives, a low-fat diet supplemented with medium-chain triglycerides is often followed by complete clinical and biochemical remission.Copyright © 2011 S. Karger AG, Basel

Lactose intolerance is found in 70% of the world-wide population. Lactase activity gradually increases till birth and then, after the early months of life, it physiologically begins to lessen. In about 30% of the population it remains active also as an adult due to a mutation: in Europe a substitution of C with T in position 13910 of the lactase gene. Our data show that CC genotype, associated with lactase non-persistence, is found in type 1 diabetes with a high prevalence of 67%. To evaluate the “glycaemic-metabolic control” we investigated the glycosylated haemoglobin (HbA1c) values and we noted that there is no significant difference between CC (non-absorber) and CT/TT (absorber) genotypes of diabetic patients. Glutamic acid decarboxylase antibodies (GADA) are positive in 58% of diabetic patients with CC genotype: this presence could be linked to the intestinal membrane hyperpermeability.

Lactose intolerance is found in 70% of the world-wide population. Lactase activity gradually increases till birth and then, after the early months of life, it physiologically begins to lessen. In about 30% of the population it remains active also as an adult due to a mutation: in Europe a substitution of C with T in position 13910 of the lactase gene. Our data show that CC genotype, associated with lactase non-persistence, is found in type 1 diabetes with a high prevalence of 67%. To evaluate the “glycaemic-metabolic control” we investigated the glycosylated haemoglobin (HbA1c) values and we noted that there is no significant difference between CC (non-absorber) and CT/TT (absorber) genotypes of diabetic patients. Glutamic acid decarboxylase antibodies (GADA) are positive in 58% of diabetic patients with CC genotype: this presence could be linked to the intestinal membrane hyperpermeability.

Abstract: Lactose intolerance is found in 70% of the world-wide population. Lactase activity gradually increases till birth and then, after the early months of life, it physiologically begins to lessen. In about 30% of the population it remains active also as an adult due to a mutation: in Europe a substitution of C with T in position 13910 of the lactase gene. Our data show that CC genotype, associated with lactase non-persistence, is found in type 1 diabetes with a high prevalence of 67%. To evaluate the “glycaemic-metabolic control” we investigated the glycosylated haemoglobin (HbA1c) values and we noted that there is no significant difference between CC (non-absorber) and CT/TT (absorber) genotypes of diabetic patients. Glutamic acid decarboxylase antibodies (GADA) are positive in 58% of diabetic patients with CC genotype: this presence could be linked to the intestinal membrane hyperpermeability.

Pentraxin-3 (PTX3) is a member of the long pentraxin superfamily and has a nonredundant role in mediating resistance to fungal pathogens. Serial monitoring of PTX3 plasmatic levels was performed in 10 pediatric leukemia patients affected by pulmonary fungal infections. When compared with values of a control pediatric cohort, PTX3 showed significantly higher plasmatic values. Moreover, the response to the antifungal therapy correlated with normalization of PTX3 values. PTX3 may represent a useful tool for the diagnosis and monitoring of fungal infections in immuno-compromised children.

Pentraxins are a family of evolutionarily conserved multifunctional pattern-recognition proteins characterized by a cyclic multimeric structure. Based on the primary structure of the subunit, the pentraxins are divided into two groups: short pentraxins and long pentraxins. C-reactive protein (CRP) and serum amyloid P-component (SAP) are the two short pentraxins. The prototype protein of the long pentraxin group is pentraxin 3 (PTX3). CRP and SAP are produced primarily in the liver in response to IL-6, while PTX3 is produced by a variety of tissues and cells and in particular, by innate immunity cells in response to proinflammatory signals and Toll-like receptor (TLR) engagement. PTX3 interacts with several ligands, including growth factors, extracellular matrix components and selected pathogens, playing a role in complement activation and facilitating pathogen recognition by phagocytes, acting as a predecessor of antibodies. In addition, PTX3 is essential in female fertility by acting as a nodal point for the assembly of the cumulus oophorus hyaluronan-rich extracellular matrix. Thus, the prototypic long pentraxin PTX3 is a multifunctional soluble pattern recognition receptor acting as a nonredundant component of the humoral arm of innate immunity and involved in tuning inflammation, in matrix deposition and female fertility.

An association between celiac disease and other autoimmune disorders—such as insulin-dependent diabetes, Addison's disease, systemic lupus erythematous, rheumatoid arthritis, alopecia areata, and autoimmune endocrine diseases—has been described. The aim of this study was to evaluate the prevalence of celiac disease in 100 patients with autoimmune thyroid disease. Moreover, the monitoring of patients with concomitant celiac and autoimmune thyroid diseases, after a gluten-free diet or a gluten-containing diet, can give important insights into the effect of dietary habits in thyroid autoantibodies modulation. In our study, the prevalence of celiac disease in patients with autoimmune thyroid disease was 2. In these two celiac patients, the serologic markers became undetectable 6 months after beginning a gluten-free diet. However, thyroid autoantibodies did not positively correlate with dietary habits.

INTRODUCTION.Bone marrow (BM) angiogenesis plays a crucial role in several hematologic malignancies, including both myeloid neoplasms and lymphoproliferative disorders. Nevertheless, the contribution of angiogenesis in patients with lymphoplasmacytic lymphoma/Waldenstrom's Macroglobulinemia (WM) and how it might be targeted for potential therapeutical intervention has not been described.

Background:Minimal Residual Disease (MRD) measurement is a useful tool to refine prognosis in adult Acute Myeloid Leukemia (AML) patients in morphological complete remission (CR). Multiparametric flow cytometry (MFC) may provide independent prognostic information particularly in intermediate (Int)-I and Int-II ELN 2010 risk groups.

SLE is an autoimmune disorder that involves polyclonal autoimmunity against multiple autoantigens. PTX3, a marker of the acute-phase inflammatory response, plays an important role in innate immunity and in modulation of the adaptive immune response. Our study tried to resolve some rather controversial aspects of the use of PTX3 as a biomarker of disease activity in SLE patients. We demonstrated that plasma PTX3 concentration of the SLE patients was significantly higher than the healthy control groups and reflected disease activity. ROC curve analysis was used to determine best cut-off point (2.8 ng/mL) with a good sensitivity and specificity. In patients with SLE, PTX3 concentrations were correlated with SLEDAI. Trend to remission (TTR) curve was created by plotting PTX3 levels and SLEDAI and we applied the curve as a model for the analysis of two patients with different follow-up. PTX3 plasma levels declined significantly and this decline occurred parallel to the clinical improvement with a complete remission of disease. In patients who experienced a clinical relapse, an increase in PTX3 levels followed the lupus flare. The proposal of PTX3 cut-off associated with TTR and monitoring of PTX3 plasma levels could be an innovative approach to follow-up of SLE patients.