Spatial optical simultons in nonlinearly coupled planar waveguides.

With second-harmonic generation in surface and buried planar waveguides achieved by direct and reverse proton exchange in lithium niobate, we demonstrate a novel kind of quadratic spatial simulton: The transverse-electric fundamental input and the transverse-magnetic second-harmonic waves nonlinearly couple two superimposed planar waveguides, permitting transverse localization of light at room temperature and at excitations as low as 340 nJ in 20-ps pulses.

Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease.

Medullary cystic kidney disease (MCKD) belongs with nephronophthisis (NPH) in a group of inherited tubulo-interstitial nephritis, which has been referred to as the NPH-MCKD complex. Although MCKD and NPH share morphological features, they differ in several respects. The most common variant is recessive juvenile NPH, with onset in childhood and leading to end-stage renal disease (ESRD) within the 2nd decade of life; the most frequent extrarenal involvement is tapeto-retinal degeneration.

A study of host defence peptide beta-defensin 3 in primates.

We have investigated the molecular evolution of the gene coding for beta-defensin 3 (DEFB103) in 17 primate species including humans. Unlike the DEFB4 genes (coding for beta-defensin 2) [Boniotto, Tossi, Del Pero, Sgubin, Antcheva, Santon and Masters (2003) Genes Immun. 4, 251-257], DEFB103 shows a marked degree of conservation in humans, Great Apes and New and Old World monkeys.

Primary hyperoxaluria: genotype-phenotype correlation.

Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase (AGT), which is encoded by a single copy gene (AGXT). Molecular diagnosis was used in conjunction with clinical, biochemical and enzymological data to evaluate genotype-phenotype correlation. Patients can present a severe form of PH1, an adult form and a mild to moderate decrease in renal function.

Effects of maturation on RNA transcription and protein expression of four MRP genes in human placenta and in BeWo cells.

The placenta is a multifunctional organ that protects the fetus from toxic compounds and the MRPs contribute to this function. The expression of MRP1, MRP2, MRP3, and MRP5 was compared in human placental tissue and in BeWo cells by real-time RT-PCR analysis; protein expression was assessed by Western blot. MRP1 and MRP3 were the most abundantly expressed genes in placenta but only MRP1 was highly expressed in the BeWo cells.

Induction of G1 cycle arrest in T lymphocytes results in increased extracellular levels of beta-chemokines: a strategy to inhibit R5 HIV-1.

The beta-chemokines RANTES (regulated on activation, normal T cell expressed and secreted), macrophage inflammatory protein-1alpha (MIP-1alpha), and MIP-1beta are the natural ligands of the HIV-1 coreceptor CCR5 and compete with the virus for receptor binding. We show that secretion of the beta-chemokines by activated lymphocytes starts before cellular DNA synthesis is detected and demonstrate that transient prolongation of the G(1) phase of the cell cycle by treatment with cytostatic drugs results in increased levels of the three chemokines in culture supernatants. Supernatants collected from peripheral blood mononuclear cells exposed to hydroxyurea, which arrests the cell cycle in late G(1), contained high levels of beta-chemokines.

Silent ischemia is more prevalent among hypertensive patients with microalbuminuria and salt sensitivity.

Some patients with essential hypertension manifest greater than normal urinary albumin excretion (UAE). Salt-sensitive hypertensives also manifest greater UAE compared to salt-resistant individuals. Although the significance of these associations is not well established, several lines of evidence suggest that microalbuminuria and/or salt sensitivity may be associated with greater prevalence of cardiovascular risks and events.

Expression of lactoferrin on neutrophil granulocytes from synovial fluid and peripheral blood of patients with rheumatoid arthritis.

Objective: To analyze lactoferrin expression on synovial fluid (SF) and peripheral blood neutrophils of patients with rheumatoid arthritis (RA) and to compare it with the lactoferrin expression on neutrophils from patients with osteoarthritis (OA).

Methods: Paired samples of peripheral blood and SF were obtained from 14 patients with RA and 9 patients with OA. Lactoferrin expression was evaluated on cell surfaces by cytofluorimetric analysis utilizing both polyclonal antibodies and the monoclonal anti-lactoferrin antibody AGM 2.

Antibodies to anionic phospholipids and anti-beta2-GPI: association with thrombosis and thrombocytopenia in systemic lupus erythematosus.

In this study, we evaluated the prevalence and association with thrombosis and/or thrombocytopenia of IgG and IgM antibodies to cardiolipin (aCL), phosphatidic acid (aPA), phosphatidylinositol (aPI), phosphatidylserine, and beta(2)-glycoprotein I (abeta(2)-GPI) in systemic lupus erythematosus (SLE). Sera were obtained from 87 patients affected by SLE (77 of the 87 patients were females), 41 of them with a history of arterial and/or venous thrombosis. Antiphospholipid antibodies and abeta(2)-GPI were evaluated by enzyme-linked immunosorbent assay.

Frequency of the HFE gene mutations in five Italian populations.

Genetic hemochromatosis is an autosomal recessive disorder characterized by iron overload and a variety of clinical manifestations such as liver cirrhosis and arthropathy. It is the most common genetic disease of northern European populations. The principal gene responsible for hereditary hemochromatosis, designated HFE, is located on chromosome 6 in the HLA region.

Antimicrobial and immunoregulatory functions of lactoferrin and its potential therapeutic application.

Lactoferrin is an iron-binding glycoprotein present in various secretions (eg. milk, tears, saliva,pancreatic juice, etc.).

The unusual association of three autoimmune diseases in a patient with Noonan syndrome.

We report on a 26-year-old female affected by Noonan syndrome (NS), a congenital disorder characterized by various phenotypic features and congenital anomalies) associated with a variety of autoimmune diseases, including systemic lupus erythematosus, celiac disease, and Hashimoto thyroiditis. Autoimmunity is seldom described in NS and the association between this congenital disease and three autoimmune disorders has not been previously reported. Should the occurrence of autoimmune disorders in NS be confirmed, a relevant clinical and laboratory evaluation of NS patients should be performed in order to clarify whether the immune system involvement represents only an occasional event or is a feature of the disease.

Variant mannose-binding lectin alleles are associated with celiac disease.

In this study, we investigated the role of mannose-binding lectin (MBL) in celiac disease, by performing genotype analysis for the three point mutations in the first exon of the gene in 117 Italian celiac patients (characterized by flat biopsy and positive for anti-endomysium antibody and human transglutaminase antibodies) and 130 pan-ethnic healthy controls. The frequency of homozygous mutant 0/ 0 was significantly higher in the 117 Italian celiac patients (0.13) than in the 130 pan-ethnic healthy controls (0.

Inferior vena cava duplication with reference to venous asymmetries.

Congenital anomalies of the inferior vena cava are relatively frequent, usually with scarce clinical impact. There are few cases reported of inferior vena cava duplication. The supernumerary left-placed vena cava originates in the pelvis from a common iliac vein and receives ipsilateral lumbar and renal veins.

Single-tube genotyping of MBL-2 polymorphisms using melting temperature analysis.

Recently several authors correlated MBL-2 gene polymorphisms with different pathologies and there is a growing interest for MBL-2 genotyping in a large number of individuals. We have developed a single-tube, rapid, economic, and fully automated melting temperature analysis screening method, based on ABI 7700 Sequence Detection System technology and SYBR Green I chemistry, for the detection of three polymorphisms (exon 1, codons 52, 54, 57) in the MBL-2 gene. We also developed an electronic sheet for the automatic calling of different genotypes, based on the analysis of the first derivative of ABI 7700 raw data.

A reliable screening procedure for coeliac disease in clinical practice.

Background: The main autoantigen recognized by the sera of patients with coeliac disease (CD) is tissue transglutaminase (tTG). A human-recombinant form of tTG was used to develop an ELISA to measure anti-tTG serum antibodies for the diagnosis of CD. Preliminary retrospective reports suggest that the human tTG-based ELISA could identify coeliac patients missed by the IgA-anti-endomysium antibody test (AEA).

Structural and functional characterization of hBD-1(Ser35), a peptide deduced from a DEFB1 polymorphism.

beta-Defensins are mammalian antimicrobial peptides that share a unique disulfide-bonding motif of six conserved cysteines. An intragenic polymorphism of the DEFB1 gene that changes a highly conserved Cys to Ser in the peptide coding region has recently been described. The deduced peptide cannot form three disulfide bonds, as one of the cysteines is unpaired.

Quantitative in situ detection of high-risk human papillomavirus in cytological specimens by SYBR Green I fluorescent labeling.

In this study we developed an in situ protocol for quantitative detection of high-risk human papillomavirus (HPV), based on direct in situ polymerase chain reaction (PCR) with SYBR Green I labeling and GeneAmp 5700 Sequence Detection System technology. This protocol was applied on cytological specimens of patients with cervical intraepithelial neoplasia (CIN) and squamous cell carcinoma (SCC). We performed direct in situ quantitative PCR on cell smears, uninfected human skin fibroblasts, Hela and Caski cells.

The 677C --> T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in epileptic patients affected by systemic lupus erythematosus.

Neuropsychiatric involvement in systemic lupus erythematosus (NPSLE) is considered as one of the major manifestations of the disease. Epilepsy has been documented in about 10% of patients with systemic lupus erythematosus (SLE). It is well known that vascular damage in SLE occurs because of multiple mechanisms including hypercoagulation.

An open reading frame in intron seven of the sea urchin DNA-methyltransferase gene codes for a functional AP1 endonuclease.

Analysis of the genome structure of the Paracentrotus lividus (sea urchin) DNA methyltransferase (DNA MTase) gene showed the presence of an open reading frame, named METEX, in intron 7 of the gene. METEX expression is developmentally regulated, showing no correlation with DNA MTase expression. In fact, DNA MTase transcripts are present at high concentrations in the early developmental stages, while METEX is expressed at late stages of development.

Biological and clinical significance of endotoxemia in the course of hepatitis C virus infection.

Endotoxins or lipopolysaccharides (LPS), major components of the cell wall of Gram-negative bacteria, once released from the bacterial outer membrane bind to specific receptors and, in particular, to a membrane-bound receptor, the CD14 (mCD14) and the toll-like receptor 4 present on monocytes/ macrophages. In turn, LPS-activated monocytes/ macrophages release in the host tissue an array of so-called proinflammatory cytokines and, among them, Tumor Necrosis Factor (TNF)-alpha, interleukin (IL)-1beta, IL-6, IL-8 and IL-12 are the major mediators. Before therapy (To) and at the end of 6-month interferon (IFN)-alpha/Ribavirin (RIB) treatment (T6), circulating endotoxin levels were measured in responder and non responder HCV+ patients.

Modifications of the immune responsiveness in patients with hepatitis C virus infection following treatment with IFN-alpha/ribavirin.

The balance between T helper (h)1 and Th2 responsiveness seems to represent a key event in the evolution of hepatitis C virus (HCV) infection. In particular, Th1 cytokines [interleukin (IL-2) and interferon (IFN-gamma)] have been demonstrated to mediate the antiviral immune response. Serum levels of Th1 cytokines (IL-2 and IFN-gamma) as well as of Th2 products (IL-4 and IL-10) were determined in a group of HCV-positive patients before and after treatment with IFN-alpha and Ribavirin (RIB).

Prognostic value of the stromal cell-derived factor 1 3'A mutation in pediatric human immunodeficiency virus type 1 infection.

A mutation of the stromal cell-derived factor 1 gene (SDF-1 3'A) was shown to protect adults exposed to human immunodeficiency virus type 1 (HIV-1) from infection and to affect HIV disease progression in adults. The presence of this mutation in HIV-1-infected Kenyan children did not predict mother-to-child virus transmission. The SDF-1 3'A polymorphism was studied in 256 HIV-1-infected, 118 HIV-1-exposed but uninfected, and 170 unexposed and uninfected children of Italian origin, and the frequency of SDF-1 3'A heterozygosity and homozygosity in each of the 3 groups was similar.