Effect of LDL-apheresis on plasma lipids, chitotriosidase and anti-oxLDL antibodies in heterozygous familial hypercholes-terolemia

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Acidic Mammalian Chitinase and the Eye: Implications for Ocular Inflammatory Diseases

Chitinases have an important role in the defense of organisms against chitin-containing parasites. An acidic mammalian chitinase (AMCase) has been detected in epithelial cells in lung tissue samples taken from patients with asthma as well as in conjunctival epithelium of patients with inflammatory ocular diseases. Particularly, elevated AMCase activity has been observed in ocular tissues of patients with vernal keratoconjunctivitis, seasonal allergic conjunctivitis, and in patients affected by dry eye syndrome. This enzyme is induced via a TH2-specific, IL-13-dependent pathway. AMCase may thus be a key mediator of IL-13-induced responses in TH2-driven inflammatory ocular diseases

Human Immunodeficiency Virus type-1 and cytokines in colostrum from HIV-infected mothers in Burkina Faso

Background: The colostrum of HIV-infected mothers contains a high number of HIV copies and is considered highly infectious. Furthermore it contains large numbers of macrophage and other mononuclear cells that are known to incorporate virus. While prevention protocols in Western countries suggest the interruption of breast feeding, at least for the first few months of life, this practice is not advisable in developing countries. Methodology: The aim of this study was to determine the HIV load and the concentrations of IL-18, IL-16, IL-12, TGF-beta1 and TGF-beta2 in the colostrum of HIV-infected mothers living in Burkina Faso. The women all received nevirapine prophylaxis during labour. Results: The viral load in the colostrum decreased rapidly during the first three days following delivery, while the concentration of IL-18 and IL-16 increased in the same period. IL-12, TGF-beta1 and TGF-beta2 did not show significant variations in the first three days after delivery. Conclusions: Since the viral load decreases in the colostrum of nevirapine-treated expectant mothers, our data suggest single dose nevirapine combined with interruption of early feeding may have potential as a way to reduce the risk of MTCT

Distinguishing hypertension from hypertrophic cardiomyopathy as a cause of left ventricular hypertrophy

Distinguishing Hypertension From Hypertrophic Cardiomyopathy as aCause of Left Ventricular HypertrophyIn most hypertensive patients, left ventricular (LV) wallthickness is normal or only mildly increased (≤13 m

Immunomodulation of fucosyl-lactose and lacto-N-fucopentaose on mononuclear cells from multiple sclerosis and healthy subjects

The 1,2-fucosyl-oligosaccharides, and among these the 2’-fucosyl-lactose (2’-FL) and lacto-N-fucopentaose (LNFP)-I, are quantitatively the most represented oligosaccharides of human milk. They are also seen to represent an important immune device to prevent nursing infants from severe infectious diarrhoea. Recent evidences show that the appearance of 2’-FL and LNFP-I in human colostrums is synchronised with the macrophage inhibition and that LNFP-III induces a Th2 response from the mouse peripheral immune system. Since mannosyl-fucosyl receptors are described on the macrophage surface, all these evidences allow us to investigate on the possible immune function of human 2’-FL and LNFP-I in vitro on LPS-activated mononuclear cells (MNC) from 12 patients with multiple sclerosis (MS) and 20 matched health controls (HC). We found that 2’-FL and LNFP-I significantly decrease, to a different extent, the MNC proliferation from both HC and MS patients, in a linear and dose-dependent manner. 2’-FL and LNFPI also reduce the production of IL-12 and IFN-γ, particularly in MS patients as compared to HC (p=0.01 and p<0.001, respectively), while increasing that of IL- 10. The overall immunomodulatory effect of 2’-FL and LNFP I here presented may represent a future therapeutic option for the abnormal immune response found in some monocyte-mediated diseases

The Swiss cheese model in takotsubo syndrome

No abstract availabl

Expression and Localization of aquaporin‐1 in Temporomandibular Joint Disc with Internal Derangement

Background: Internal derangement is the most frequent arthropathy affecting the temporomandibular joint, where its commonest form is anterior disc displacement with or without reduction. Despite the frequency of the disorder, the biochemical features of displaced discs are still unclear. Methods: We investigated the expression pattern and localization of aquaporin‐1, an important channel protein involved in plasma membrane water permeability, in patients with anterior disc displacement (both with and without reduction), with a view to assessing the characteristics of local tissue responses to the microenvironmental changes induced by abnormal mechanical loading of the displaced disc. Protein expression was studied by immunohistochemistry in different areas of discs from 18 patients with anterior disc displacement with or without reduction and in four normal controls. Results: A greater proportion of cells immunopositive for aquaporin‐1 were detected in diseased than in normal discs. Whereas protein expression was substantially similar in the different areas of normal discs, a significantly larger number of immunopositive cells were detected in the posterior band of displaced discs without reduction and in the anterior and intermediate bands of those with reduction. Conclusions: These findings suggest that aquaporin‐1 is expressed and upregulated in temporomandibular joint with anterior disc displacement (both with and without reduction)

A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort

Sequencing of sarcomere protein genes in patients fulfilling the clinical diagnostic criteria for hypertrophic cardiomyopathy (HCM) identifies a disease-causing mutation in 35% to 60% of cases. Age at diagnosis and family history may increase the yield of mutations screening. In order to assess whether Next-Generation Sequencing (NGS) may fulfil the molecular diagnostic needs in HCM, we included 17 HCM-related genes in a sequencing panel run on PGM IonTorrent. We selected 70 HCM patients, 35 with early (≤25 years) and 35 with late (≥65 years) diagnosis of disease onset. All samples had a 98.6% average of target regions, with coverage higher than 20× (mean coverage 620×). We identified 41 different mutations (seven of them novel) in nine genes: MYBPC3 (17/41 = 41%); MYH7 (10/41 = 24%); TNNT2, CAV3 and MYH6 (3/41 = 7.5% each); TNNI3 (2/41 = 5%); GLA, MYL2, and MYL3 (1/41=2.5% each). Mutation detection rate was 30/35 (85.7%) in early-onset and 8/35 (22.9%) in late-onset HCM patients, respectively (p < 0.0001). The overall detection rate for patients with positive family history was 84%, and 90.5% in patients with early disease onset. In our study NGS revealed higher mutations yield in patients with early onset and with a family history of HCM. Appropriate patient selection can increase the yield of genetic testing and make diagnostic testing cost-effective

History of urea as a dermatological agent in clinical practice.

Urea, also known as carbamide, is a polar, hygroscopic molecule produced by the human body that was first discovered in urine in 1773 by the French chemist Hilaire Rouelle and was artificially synthesised from inorganic precursors in 1828 by the German chemist Friedrich Wöhler. The importance of urea in dermatology is twofold: it primarily has a physiological key role for the maintenance of skin hydration, and it secondarily has been used for more than a century in different topical preparation and concentration in various skin conditions. One of the first uses of urea was the topical treatment of wounds because of its antibacterial and proteolytic properties. Since the second part of the 20th century, urea became one of the most common moisturisers and keratolytic agents, useful for the treatment of xerosis, atopic dermatitis, ichthyosis and psoriasis