Very high frequency of the polymorphism for the insulin receptor substrate 1 (IRS-1) at codon 972 (glycine972arginine) in Southern Italian women with polycystic ovary syndrome.

A major component of the polycystic ovary syndrome (PCOS) is the insulin resistance. Only a few studies have evaluated the IRS-1 polymorphism at codon 972, sometimes in the absence of a control group, and with great variability in frequency (0-23% in PCOS vs. 0-17% in controls), and with no unequivocal relationships between the polymorphism and clinical or biochemical indexes. The aim of the work was to evaluate the frequency of the IRS-1 polymorphism at codon 972 in PCOS, and correlate it to clinical and biochemical indexes. We assessed the rs 1801278 polymorphic variant in the IRS-1 gene (Gly972Gly=wild-type; Gly972Arg=heterozygosity; Arg972Arg=homozygosity) in genomic DNA by restriction fragment length polymorphism. The study was conducted at an academic medical center with the participation of 65 women with PCOS and 27 age-matched healthy women (controls). Compared to controls, Gly972Arg was very frequent in PCOS (77% vs. 18%, p<0.0001); one PCOS woman was homozygous. Compared to wild-type PCOS, heterozygous PCOS women had only three significantly different indexes: higher fasting insulin, insulin resistance index, and lower 120 min OGTT glucose. Moreover, in the correlation analysis between any two clinical or biochemical variables, the Pearson's correlation coefficients were frequently of different magnitude in heterozygous PCOS versus wild-type PCOS. Overall, heterozygous PCOS had a greater number of statistically significant relationships between different clinical, metabolic and hormonal indexes: 44 direct and 9 inverse versus 6 and 3, respectively. The IRS-1 Gly972Arg has the highest frequency reported world-wide for PCOS women. This variant is associated with insulin resistance and higher fasting insulin in PCOS women.

Quantitative structure-property relationships of potentially bioactive fluoro phospho-silicate glasses.

In this work, the glass transition temperature and chemical durability of bioactive phospho-silicate glasses were experimentally determined and correlated to the structural descriptor Fnet derived from classical molecular dynamics simulations. The replacement of CaF2 for Na2O in the parent glass 45S5 enhances both chemical durability and density, while the replacement of CaF2 for CaO lowers chemical durability. The proposed descriptor, Fnet, provides satisfactorily correlations with glass transition temperature and chemical durability over a wide range of compositions.

Elucidation of the structural role of fluorine in potentially bioactive glasses by experimental and computational investigation.

Glasses belonging to the Na(2)O-CaO-P(2)O(5)-SiO(2) system and modified by CaF(2) substitution for CaO and Na(2)O alternatively, were synthesized and characterized experimentally and computationally. The results of molecular dynamics simulations show that fluorine is almost exclusively bonded to modifier cations (Ca and Na) with coordination number close to 4. A similar mean coordination number value is found in the crystal phases obtained by means of thermal treatment at fixed temperature. Addition of fluorine increases the polymerization of silicate tetrahedra by removing modifiers from the siliceous matrix. No appreciable amount of Si-F bonds are detected.

Properties of zinc releasing surfaces for clinical applications.

Two series of glasses of general formula (2-p) SiO2.1.1Na2O.CaO.pP2O5.xZnO (p=0.10, 0.20; x=0.0, 0.16, 0.35, and 0.78) have been analyzed for physico-chemical surface features before and after contact with simulated body fluid, morphological characteristics, and osteoblast-like cells behavior when cultured on them. The resulted good cell adhesion and growth, along with nonsignificant changes of the focal contacts, allow the authors to indicate HZ5 and HP5Z5 glasses as the ones having optimal ratio of Zn/P to maintain acceptable cell behavior, comparable to the bioactive glass (Bioglass) used as a control; results are also rationalized by means of three-dimensional models derived by molecular dynamic simulations, with decomposition and conversion rates optimized with respect to the parent Hench's Bioglass.

Merkel cell carcinoma of the upper eyelid: presentation and management.

Merkel cell carcinoma (MCC) is a rare and potentially aggressive neuroendocrine tumour. The authors describe a unique presentation of a 4.5 cm wide MCC of the upper lid in a 73-year-old female. After total upper lid resection, immediate reconstruction was achieved by a full-thickness lower-lid transposition flap based on the lower lateral palpebral artery. At the 3 year follow-up the patient is free from disease and the reconstructive result is satisfactory both functionally and aesthetically.

Long-term psychometric outcomes of facial lipoatrophy therapy: forty-eight-week observational, nonrandomized study.

The aim of this observational, prospective, nonrandomized study was to assess long-term psychometric outcomes of surgical treatment of HIV-related facial lipoatrophy. Two hundred ninety-nine participants (70.8% male) consecutively attending the Metabolic Clinic of Modena and Reggio Emilia University from November 2005 to July 2006, undergoing surgical interventions for HIV-related facial lipoatrophy were enrolled. Fifty-four (18.1%) underwent facial lipofilling, which consists of the harvesting of a small, intact parcel of fatty tissue with processing that removes the nonviable components and of the transport of fatty parcels through a small cannula to implant the graft in a manner that provides nutrition and anchors the fat to the host tissue. After an initial lipofilling, 24 (8%) needed polylactic acid injections to correct cheek asymmetry, 91 (30.4%) received only polylactic acid infiltrations, and 130 (43.5%) polyacrylamide infiltrations only. Subjective outcome measures were face aesthetic satisfaction, body image perception, depression evaluated by a visual analogue scale (VAS), the Assessment of Body Change and Distress questionnaire (ABCD), and by the Beck Depression Inventory questionnaire, respectively. Objective measure was cheek thickness evaluated by a 7.5-MHz frequency ultrasound probe perpendicular to the skin surface at the nasolabial fold, the corner of the mouth, the zygomatic arch, and centrally between these points in the buccal fat pad area. Both subjective and objective variables were evaluated at baseline and 48 weeks after end of surgical treatment. All 299 participants had significant improvement of the aesthetic satisfaction for the face (VAS from 2.9 +/- 2.1 to 6.2 +/- 2.1, p < 0.0001), of body image satisfaction (ABCD question 7 from 3.8 +/- 1 to 3.1 +/- 1 p < 0.0001 and ABCD question 8 from 70.7 +/- 16.7 to 77.2 +/- 17.2 p < 0.0001), of depression score (Beck score from 11.4 +/- 8.3 to 9.4 +/- 7.8 p = 0.001). Participants experienced a significant augmentation of both cheeks' thickness (right cheek from 4.3 +/- 1.9 mm to 9.5 +/- 3 mm p < 0.0001, left cheek from 4.4 +/- 2 mm to 9.6 +/- 3.1 mm, p < 0.0001). Our data suggest that facial surgery is an important option in the treatment of HIV-related lipoatrophy as an integral part of the management of HIV infection, because of the important and lasting psychological benefits.

Insulin resistance in a child with Acanthosis nigricans type A.

The patient, a female 6 years 4 months old, diagnosed as affected by Acanthosis nigricans and diabetes mellitus was referred to our Clinic for further investigation of her glucose metabolism. She had a typical face with hypertelorism, prognathism, macroglossia and large auricles. The skin was hyperpigmented, verrucous, hyperkeratotic especially in the folds and flexural areas with small papillomatous or nodular growth; diffused hypertrichosis and hypertrophic clitoris were also present. Biochemical and hormonal investigations revealed no major abnormalities apart from glucose metabolism. After an unsuccessful trial with conventional insulin therapy, endovenous continuous insulin infusion was started: even with 32 U/kg/h it was not possible to achieve normoglycemia. Insulin receptors were studied on erythrocytes: 125I-insulin binding (specific) was clearly lower than normal. The concentration of insulin receptors was reduced, while the average affinity profile was normal. The study of erythrocyte insulin receptors has demonstrated that insulin resistance in this patient is due to a decrease in the number of receptors, i.e. Acanthosis nigricans type A.