TLR7 Gln11Leu single nucleotide polymorphism in patients with sarcoidosis.

Sarcoidosis is a multi-factorial systemic disease with increased activity of the cellular immune components which is responsible of the formation of non-caseating granulomas in involved organs. Recent views on the etiology indicate interactions between inherited susceptibility and environmental or lifestyle factors. Concerning genes that may influence susceptibility to sarcoidosis Toll-like receptors (TLRs) may represent plausible candidates. In this present study, we investigated the X-linked TLR7 rs179008/Gln11Leu polymorphism situated on exon 3. SNP genotyping of the TLR7 exon polymorphism was performed by TaqMan allelic discrimination using the StepOnePlus™ Real-Time PCR System (Applied Biosystems). In females, the incidence of the AT genotypes of the polymorphism was significantly lower in sarcoidosis patients compared to control subjects  (P=0.0001). We could observe in control subjects a significant preponderance of the T allele of the TLR7 rs179008/Gln11Leu polymorphism compared to sarcoidosis female patients (P=0.008). In males, no significant differences between patients and controls emerged in allele frequencies of the TLR7 rs179008/Gln11Leu polymorphism. The presence of the TLR7 rs179008/Gln11Leu polymorphism in sarcoidosis may determine an alteration of TLR7 function hampering the signaling pathway involved in the onset of both cellular and humoral autoimmunity. This is consistent with the view that in some circumstances genetic mutations affecting components of the immune system can prevent systemic autoimmunity.

[Definition and validation of a comfort index calculation method for office seats]. / Definizione e validazione del metodo di calcolo di un indice di comfort delle sedie da ufficio.

BACKGROUND: Among its other required features, a highly comfortable chair should adapt its contact surfaces, namely the seat and the back rest, to the shape of the body of the person sitting on it. However, "comfort" is not usually perceived as an absolute value, but is derived from a subjective comparison between two or more chairs. OBJECTIVES: The purpose of this research was the definition of an objective comfort index (IC), i.e., derived from instrumental measurements, and which would also represent an absolute comfort value. METHODS: Analytical evaluation of the distribution of body weight, by means of a barometric matrix, shows that a comfortable chair tends to minimize peak and average values of pressure at the level of the contact areas located between the body and the seat and the back of the chair. To define a comparison parameter for determining an absolute comfort value, a reference chair (SDR) was developed. The seat and the back of this chair are rigid, with poor compliance. A comfort value of zero was, by definition, assigned to this chair. Therefore, the Comfort index (IC) was obtained by the mathematical calculation of the ratios of averages, peaks and gradients of pressure, appropriately weighted, and the corresponding values measured on the tested chair and on the SDR. RESULTS: It is shown that the anthropometric characteristics of each subject are irrelevant to the assessment of the IC, which depends only on the compliance characteristics of the seat and back surfaces of the tested chair CONCLUSIONS: IC can be improved through analysis of a larger number of seats, which would thus constitute the basis for the use of an objective evaluation of seating comfort.

Anetoderma in cutaneous marginal-zone B-cell lymphoma.

Anetoderma is a rare condition, consisting of well-circumscribed areas of slack skin, in which dermal elastic fibres are destroyed or deficient. We present the case of a 45-year-old man with a 25-year history of deep nodules and plaques gradually progressing to areas of anetoderma. Histological examination found an infiltrate composed of neoplastic cells with lymphoplasmocytoid morphology. The cells were positive for CD20, CD38 and CD138, and there was a monoclonal kappa light chain gene rearrangement of plasma cells. A diagnosis of cutaneous marginal-zone B-cell lymphoma was made. The pathogenesis of anetoderma remains unknown, but it is possible that cytokines or other soluble factors produced by the infiltrating lymphocytes have a role in this process.