[Genetics and genetic counseling]

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent genetic disease, characterized by progressive development of bilateral renal cysts. Two causative genes have been identified: PKD1 and PKD2. ADPKD phenotype is highly variable. Typically, ADPKD is an adult onset disease. However, occasionally, ADPKD manifests as very early onset disease. The phenotypic variability of ADPKD can be explained at three genetic levels: genic, allelic and gene modifier effects. Recent advances in molecular screening for PKD gene mutations and the introduction of the new next generation sequencing (NGS)- based genotyping approach have generated considerable improvement regarding the knowledge of genetic basis of ADPKD. The purpose of this article is to provide a comprehensive review of the genetics of ADPKD, focusing on new insights in genotype-phenotype correlation and exploring novel clinical approach to genetic testing. Evaluation of these new genetic information requires a multidisciplinary approach involving a nephrologist and a clinical geneticist

A novel highly charged exopolysaccharide produced by two strains of Stenotrophomonas maltophilia recovered from patients with cystic fibrosis

Stenotrophomonas maltophilia is a non-fermenting Gram-negative microorganism capable of causing chronic pulmonary infection in cystic fibrosis patients and its ability to form biofilms on polystyrene and glass surfaces, as well as on cystic fibrosis-derived bronchial epithelial IB3-I cells was recently demonstrated. The latter evidence might explain the power of S. maltophilia to produce persistent lung infections, despite intensive antibiotic treatment. In addition to being important components of the extracellular biofilm matrix, polysaccharides are involved in virulence, as they contribute to bacterial survival in a hostile environment. With the aim of contributing to the elucidation of S. maltophilia virulence factors, the exopolysaccharides produced by two mucoid clinical isolates of S. maltophilia obtained from two cystic fibrosis patients were completely characterised, mainly by means of ESI-MS and NMR spectroscopy. The results showed that, although the two isolates were recovered from two different patients living in different countries (Italy and France), the exopolysaccharides produced have an identical primary structure, composed of one Glc, two GalA, one GlcA. The exopolysaccharide is highly negatively charged for the presence of three uronic acids on four residues in the repeating unit. Moreover, an ether-linked D-lactate substituent is located on C-3 and one Oacetyl group on C-4 of the galacturonic acid side chain. Another O-acetyl group substitutes C-2 of the galacturonic acid in the backbone, making this primary structure unique

On the binding of copper and lead by water-soluble polysaccharides

Optical, chirooptical and thermodynamic techniques have been used to study the binding between copper (II) ions and carboxyethylscleroglucan, oxidised glucomannan, 6-oxychitin and reacetylated chitosan in dilute aqueous solution. For oxidised glucomannan and reacetylated chitosan, the binding of lead was also studied. The results obtained were consistent with the occurrence of a chelate that was evidenced by the existence of a charge transfer band in the near UV region and supported by other experimental data. The variations on binding of the thermodynamic functions Gibbs free energy, enthalpy and hence entropy were computed. Indications on the site(s) of binding were derived. In the case of oxidised glucomannan, the UV spectrophotometry revealed the presence of two sites of binding, the carboxyl groups of glucuronic and mannuronic acids. Finally, the possibility of avoiding misleading results with appropriate procedures is sho

VALUTAZIONE DELL\u2019IMPATTO PSICOLOGICO DELLO SVILUPPO PUBERALE PRECOCE IN UNA CASISTICA AMBULATORIALE

The Authors present results by a study which, from neuropsychiatric and neuropsychological evaluation of girls with precocious puberty referred to Pediatric Service PUGD in Udine, has the aim to define if these patients present any psychological disease related to medical condition. Clinical cases, methodology, results and discussion are presented. As support to some conclusive clinical reflections and as proposal of routine psychological evaluation in case of precocious puberty diagnosis, two clinical cases are described

Isolation of a sulfobromophthalein binding protein from hepatocyte plasma membrane

This paper deals with the isolation and partial characterization of a protein capable of high affinity sulfobromophthalein-binding from liver plasma membrane. The purification involves acetone powder of a crude preparation of rat liver plasma membrane, salt extraction and purification through two chromatographic steps. Based on sulfobromophthalein binding, the process gives a yield of approximately 40%, with a purification of about 300 times with respect to the starting homogenate. The best preparation can bind more than 100 nmol sulfobromophthalein/mg protein. The protein behaves as a single species in dodecyl sulphate polyacrylamide gel electrophoresis, with an apparent molecular weight of 1.7 \ub7 105. The molecule does not contain sugars. The dissociation constant of the protein \ub7 sulfobromophthalein complex has been found to be 4 \ub7 10 126 M, a value in agreement with that of high affinity binding sites described on isolated liver plasma membrane

Investigation of corrosion behaviors at different solutions of boronized AISI 316L stainless steel

In this study, corrosion behaviors of boronized and non-boronized AISI 316L stainless steel (AISI 316L SS) were investigated with Tafel extrapolation and linear polarization methods in different solutions (1 mol dm−3 HCl, 1 mol dm−3 NaOH and 0.9% NaCl) and in different immersion times. AISI 316L SS were boronized by using pack boronizing method for 2 and 6 hours at 800 and 900°C within commercial Ekabor®-2 powder. Surface morphologies and phase analyses of boride layers on the surface of AISI 316L SS were characterized by scanning electron microscope (SEM), energy dispersive X-ray spectroscopy (EDS) and X-ray diffraction (XRD) analysis. SEM-EDS analyses show that boride layer on AISI 316L SS surface had a flat and smooth morphology. It was detected by XRD analyses that boride layer contained FeB, Fe2B, CrB, Cr2B, NiB and Ni2B phases. Boride layer thickness increases with increased boronizing temperature and time. The corrosion experiments show that boride layer significantly increased the corrosion resistance of the AISI 316L SS in 1 mol dm−3 HCl solution. While no positive effect of the boride layer was observed in the other solutions the corrosion resistance of the borid layer on AISI 316L SS was increased in all solution with the increase of the waiting periods

Insights into mechanism of anticancer activity of pentacyclic oxindole alkaloids of Uncaria tomentosa by means of a computational reverse virtual screening and molecular docking approach

Alkaloid-rich extract from Uncaria tomentosa (eng. Cat’s claw) has been reported to cause apoptosis in vitro in cancer lines. Oxindole pentacyclic alkaloids of the plant are responsible for this effect, yet their biological mechanism of action is not fully understood. In this work the set of these alkaloids underwent an extensive theoretical study with reverse virtual screening and molecular docking methods implemented in AutoDock, AutoDock Vina and Molegro Virtual Docker. The obtained results from these computational methods indicate that inhibition of dihydrofolate reductase and MDM2 may be responsible for the biological activity of the alkaloids. The docking results also show that alkaloids can interact with Dvl-2, Akt-2 and leukotriene A4 hydrolase. The reverse virtual screening and molecular docking are valuable tools to aid identification of protein targets for bioactive hit molecules and could guide the design of in-depth biochemical activity tests and utilization of these alkaloids in anticancer drug development.Peer reviewe