Y chromosome microdeletions screening in Tunisian infertile men.

The aim of this study was to establish the prevalence of chromosomal abnormalities and microdeletions on the Y chromosome in Tunisian infertile men with severe oligozoospermia or non-obstructive azoospermia. In cases of azoospermia, we aimed also to correlate histological results after negative testicular sperm extraction with the type of Y chromosome microdeletion. 84 infertile patients and 52 controls were screened for karyotypic abnormalities using G-banding and Yq chromosome microdeletions using multiplex PCR. 7 infertile males (8.3%) carried chromosomal abnormalities and 8 (9.5%) presented Y chromosome microdeletions. The frequency of chromosome abnormalities in azoospermic patients was 11.1% vs 3.3% in the severe oligozoospermic group. Klinefelter syndrome was the most frequent chromosomal abnormalities in 85.7% of cases. Only one patient had a 46,X,del Y/45,X karyotype. The frequency of microdeletions was 11.1% in the azoospermic group and 6.7% in the severe oligozoospermic group. Six out of 84 (7.14%) of the infertile patients had microdeletions in the AZFc region, one azoospermic male had microdeletion in the AZFbc regions and one in the AZFb region, no deletions in the AZFa region. Among the 6 azoospermic patients with microdeletions: 4 had Sertoly cell only syndrome (SCOS) and 2 had maturation arrest (MA). Genetic abnormalities in infertile Tunisian patients are similar to those reported in other countries. The knowledge of the existence of genetic abnormalities and microdeletions is useful to provide a correct diagnosis and it allows the clinician to refer the patient to adequate assisted reproduction technique and examine the value of testicular biopsy pertinence.

Electrochemical immunoassay for lactalbumin based on the use of ferrocene-modified gold nanoparticles and lysozyme-modified magnetic beads.

The authors describe a method for electrochemical determination of the breast cancer biomarker α-lactalbumin (α-LA) using disposable screen-printed carbon electrodes (SPCEs). Lysozyme-conjugated Fe3O4 nanoparticles (Lys-Fe3O4NPs) were used to capture α-LA on the surface of the SPCEs which then is trapped in an immunosandwich using secondary antibodies labeled with ferrocene-modified gold nanoparticles. The amperometric response of ferrocene (recorded at +0.1 V vs. silver pseudo-reference electrode) as well as the electrocatalytic activity of gold nanoparticles on the hydrogen evolution reaction (recorded at -1.0 V Vs Ag pseudo-reference electrode) was exploited to sense α-LA. A sensitive voltammetric response is observed, with (a) a sensitivity of 0.8789 µA·nM-1.cm-2, (b) a detection limit (LOD, at S/N = 3) as low as 0.07 ng·mL-1, and (c) linear response in the 0.75 to 630 ng mL-1 α-LA concentration range. The assay is selective and reproducible, and the SPCEs have good storage stability. The SPCEs were applied (a) to the analysis of (spiked) maternal milk, (b) of spiked serum from healthy and pregnant persons, and (c) of serum of patients suffering from breast cancer. Graphical abstract Schematic presentation of a sensitive electrochemical immunoassay platform based on ferrocene modified gold nanoparticles and lysozyme modified magnetic beads for the determination of alpha lactalbumin in human sera and breast milk by the amperometric response of ferrocene and hydrogen evolution reaction.

Family-based association study in Tunisian familial psoriasis.

BACKGROUND: The pathogenesis of all forms of psoriasis remains obscure. Segregation analysis and twin studies together with ethnic differences in disease frequency all point to an underlying genetic susceptibility to psoriasis, which is both complex and likely to reflect the action of a number of genes. MATERIALS AND METHODS: In the present study, we performed a family-based association study, and a transmission dysequilibrium test using the PLINK program, in a set of seven Tunisian multiplex families using a panel of 96 single-nucleotide polymorphisms localized in several regions across the genome. Ninety-five of them were reported to be associated with psoriasis in different populations. RESULTS: Besides the confirmation of association between previous associated regions: 6p, 1p, 2p, 13q, 14q, and 20p, and cutaneous psoriasis, we identified a new association with the rs1249564 in the IL17RD gene. CONCLUSION: Our results support the complex genetic basis of psoriasis.

Involvement of granzyme B and granulysin in the cytotoxic response in lichen planus.

BACKGROUND: Lichen planus is an inflammatory dermatosis involving either skin and/or mucosal epithelial surfaces. A cell-mediated cytotoxicity response is the main suspected mechanism of this dermatosis. Granzyme B and granulysin are components of the cytoplasmic granules of cytotoxic T lymphocytes and natural killers. They are involved in cell-mediated apoptosis. This work studies the possible implication of granzyme B and granulysin in the cell-mediated cytotoxicity response in lichen planus. METHODS: In situ expression of granzyme B and granulysin was studied by real-time reverse transcriptase polymerase chain reaction in 15 biopsies of lichen planus. The distribution and the phenotype of the inflammatory infiltrate and the expression of granzyme B were studied by immunohistochemistry in seven other biopsies of lichen planus. RESULTS: Granzyme B and granulysin mRNA expression was one to two hundred times greater than in biopsies of normal skin. Immunohistochemical study revealed that the lymphohistiocytic infiltrate consisted mainly of CD4+ and CD8+ lymphocytes. Granzyme B+ cells were observed close to apoptotic keratinocytes. CONCLUSION: Our results suggest a central role for cell-mediated cytotoxicity by the granule exocytosis pathway probably because of auto-cytotoxic T-cell clones in the pathogenesis of lichen planus.

Effects of date seed oil on normal human skin in vitro.

Oxidative stress has been implicated in various skin diseases through the generation of reactive oxygen species and the depletion of endogenous antioxidant systems. The administration of antioxidants or free radical scavengers is reportedly helpful, notably in order to enhance the healing process. We investigated the protective effect of one new natural product:"date seed oil: DSO" against hydrogen peroxide (H(2)O(2))-induced oxidative stress, in terms of lipid peroxidation, depletion of endogenous antioxidant defense enzymes such as glutathione peroxidase (GPx), superoxide dismutase (SOD) and catalase (CAT), one day after a 2 h exposure to H(2)O(2), using human skin organ culture as an in vitro model. In the investigated model system, DSO has significant protective effect, by inhibition of damage caused by H(2)O(2), endowing a radical scavenging ability. Treatment of skin with DSO inhibited H(2)O(2)-induced lipid peroxidation. In addition, this oil inhibited H(2)O(2)-induced depletion of antioxidant defense components, such as superoxide dismutase and catalase. We conclude that DSO could be useful in the attenuation of H(2)O(2)-induced oxidative stress-mediated skin diseases in human skin, possibly due to antioxidant properties.

Date seed oil limit oxidative injuries induced by hydrogen peroxide in human skin organ culture.

The skin is chronically exposed to pro-oxidant agents, leading to the generation of reactive oxygen species (ROS). To protect the skin against an over-load of oxidant species, we studied the chemoprotective effect of one new natural product: "date seed oil: DSO". This oil may serve as a potential source of natural antioxidants such as phenols and tocopherols. Here, the antioxidative potential of DSO was compared that of to extra virgin olive oil. Adult human skin was maintained in organ culture in the presence of the DSO and extra virgin olive oil before the addition of hydrogen peroxide (H2O2), in order to prevent the tissue from its oxidizing effects. Skin specimens were collected for histology and for melanin studies. In the investigated model system, DSO protects skin against oxidative injuries. It has a significant chemoprotective effect, by inhibition of damage caused by H_{2}O_{2} compared with specimens without such addition endowing with a radical scavenging ability. The various components from DSO were much more potent antioxidant and more free radical scavengers of the H2O2 than those of olive oil. Our study shows that topical DSO treatment of the skin stimulates events in the epidermis leading to repair skin damage possibly due to antioxidant synergisms.