Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Importance: Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists.

Objective: To identify mutation-specific cancer risks for carriers of BRCA1/2.

Design, Setting, And Participants: Observational study of women who were ascertained between 1937 and 2011 (median, 1999) and found to carry disease-associated BRCA1 or BRCA2 mutations.

Synthesis and evaluation of monoamidoxime derivatives: toward new antileishmanial compounds.

A new series of monoamidoxime derivatives was synthesized using manganese(III) acetate by microwave irradiation. Several amidoximes (27-31, 33, 38) showed valuable in vitro activities toward Leishmania donovani promastigotes, exhibiting IC(50) values between 5.21 and 7.

Investigation of plasmas produced by laser ablation using single and double pulses for food analysis demonstrated by probing potato skins.

We report on investigations of plasmas produced by laser ablation of fresh potatoes using infrared nanosecond laser radiation. A twin laser system consisting of two Nd:YAG oscillators was used to generate single or double pulses of adjustable interpulse delay. The potatoes were irradiated under ambient air with moderate pulse energies of about 10 mJ.

Increased energy metabolism rescues glia-induced pathology in a Drosophila model of Huntington's disease.

Huntington's disease (HD) is a polyglutamine (polyQ) disease caused by an expanded CAG tract within the coding region of Huntingtin protein. Mutant Huntingtin (mHtt) is ubiquitously expressed, abundantly in neurons but also significantly in glial cells. Neuron-intrinsic mechanism and alterations in glia-to-neuron communication both contribute to the neuronal dysfunction and death in HD pathology.

[Results of enzyme replacement therapy in Fabry disease nephropathy].

Kidney involvement in Fabry disease is frequent and severe since it leads to terminal renal failure in the fifth decode. Enzyme replacement therapy was evaluated on kidney function in two phase III trials, each performed with one of the two enzymes available (agalsidase beta and agalsidase alpha). A phase IV trial was also conducted with agalsidase beta.

Biochemical and structural analyses of a higher plant photosystem II supercomplex of a photosystem I-less mutant of barley. Consequences of a chronic over-reduction of the plastoquinone pool.

Photosystem II of higher plants is a multisubunit transmembrane complex composed of a core moiety and an extensive peripheral antenna system. The number of antenna polypeptides per core complex is modulated following environmental conditions in order to optimize photosynthetic performance. In this study, we used a barley (Hordeum vulgare) mutant, viridis zb63, which lacks photosystem I, to mimic extreme and chronic overexcitation of photosystem II.

Crystallization and preliminary crystallographic analysis of a thermostable family 52 beta-D-xylosidase from Geobacillus stearothermophilus T-6.

Beta-D-xylosidases (EC 3.2.1.

Tricarbonyl[(6a,7,8,9,10a-eta)-3,3-dimethyl-3H-benzo[f]chromene]chromium.

The title compound, [Cr(C(15)H(14)O)(CO)(3)], is a chromene complexed with tricarbonylchromium and it exhibits photochromic properties. The molecular geometry is compared to that of two similar complexes. The analysis results indicate that complexation has minor effects on the chromene structure.

Brain plasticity and ion channels.

It is generally believed that spatio-temporal configurations of distributed activity in the brain contribute to the coding of neuronal information and that synaptic contacts between nerve cells could play a central role in the formation of privileged pathways of activity. Synaptic plasticity is not the only mode of regulation of information processing in the brain and persistent regulations of ionic conductances in some specialized neuronal areas such as the dendrites, the cell body and the axon could also modulate, in the short- and the long-term, the propagation of information in the brain. Persistent changes in intrinsic excitability have been reported in several brain areas in which activity is modified during a classical conditioning.

Crystallization and preliminary X-ray analysis of family 39 beta-D-xylosidase from Geobacillus stearothermophilus T-6.

beta-D-Xylosidases (EC 3.2.1.

Long-term plasticity of intrinsic excitability: learning rules and mechanisms.

Spatio-temporal configurations of distributed activity in the brain is thought to contribute to the coding of neuronal information and synaptic contacts between nerve cells could play a central role in the formation of privileged pathways of activity. Synaptic plasticity is not the exclusive mode of regulation of information processing in the brain, and persistent regulations of ionic conductances in some specialized neuronal areas such as the dendrites, the cell body, and the axon could also modulate, in the long-term, the propagation of neuronal information. Persistent changes in intrinsic excitability have been reported in several brain areas in which activity is elevated during a classical conditioning.

Evidence Supporting the Importance of Peripheral Visual Information for the Directional Control of Aiming Movement.

The focus of the present study was on determining whether the high level of directional accuracy found in aiming studies in which the subjects can see their hand in the visual periphery supports the existence of a kinetic visual channel or, rather, the advantage of binocular over monocular vision for movement directional control. The limits of this kinetic visual channel were also explored. The results of the 1st experiment indicated that seeing one's hand in the visual periphery is sufficient to ensure optimal directional aiming accuracy.

In vitro activities of position 2 substitution-bearing 6-nitro- and 6-amino-benzothiazoles and their corresponding anthranilic acid derivatives against Leishmania infantum and Trichomonas vaginalis.

6-Nitro- and 6-amino-benzothiazoles bearing different chains in position 2 and their corresponding anthranilic acid derivatives were investigated for their in vitro antiparasitic properties against parasites of the species Leishmania infantum and Trichomonas vaginalis compared to their toxicity towards human monocytes. Biological investigations established that the antiprotozoal properties depended greatly on the chemical structure of the position 2 substitution-bearing group. Compound C1, 2-[(2-chloro-benzothiazol-6-yl) amino] benzoic acid, demonstrated an interesting antiproliferative activity towards parasites of the species T.

High-dose chemotherapy with hematopoietic stem cell support in patients with advanced epithelial ovarian cancer: analysis of 67 patients treated in a single institution.

Background: Advanced ovarian carcinoma is a chemosensitive tumor, but its prognosis is poor with 20 to 30% 5-year survival using conventional therapy. Increasing doses of chemotherapy might improve the prognosis because of the dose-effect.

Materials And Methods: Between 1980 and 1994 at Institut Paoli-Calmettes, 67 patients with advanced ovarian cancer were treated with different alkylating agents-based regimens of high dose chemotherapy (HDC) and hematopoietic stem cell support (HSCS).

Visuospatial ability of parkinsonians and elderly adults in location memory tasks.

Two experiments addressed the question of the spatial deficits of Parkinson disease (PD) patients, using a spatial location task which varied the characteristics of the task along an effortful continuum. In the more effortful task, 11 PD patients, 10 elderly control subjects, and 13 young control subjects were given 3 min to learn the layout of 12 places labeled on a map and then reproduce it. In the less effortful task, 9 new PD patients, 9 new elderly control subjects, and 10 new young control subjects were given 3 min to learn the layout of 12 black dots and then asked to reproduce it.

Calcitriol is a positive effector of adipose differentiation in the OB 17 cell line: relationship with the adipogenic action of triiodothyronine.

In a previous report, we showed that physiological concentrations of calcitriol (1 alpha,25-(OH)2 vitamin D3 or VD), markedly stimulated the terminal adipose differentiation of Ob 17 preadipocytes cultured under standard conditions with fetal calf serum (FCS), and increased the differentiating effect of triiodothyronine (T3) reported as a necessary adipogenic factor in these cells. Here, we demonstrate, for the first time, that VD is an intrinsic strong adipogenic factor for the Ob 17 preadipocytes cultured in thyroid hormone-deprived medium (adipogenic concentrations: 0.025-0.

Effects of strenuous exercise on serum myosin heavy chain fragments in male triathletes.

During the Nice Triathlon (June 26, 1994), the serum levels of type I myosin heavy chain (MHC) fragments and creatine kinase (CK and CK-MB) activities were assessed in 12 athletes in order to evaluate the exercise-induced muscle damage. Blood samples (BS) were taken 2 days before the event (baseline), on arrival, 6 and 24 h later, and 2 and 4 days later. The mean results (and SD) were respectively: MHC (microU.

A model allowing the design of modified nucleosides as HIV-RT inhibitors.

A chemical, structural, molecular electrostatic potential (MEP) analysis of modified nucleosides allows the understanding of how nucleosides interact with different receptors. The interaction with kinases is sensitive to base modifications, while the interaction with the reverse transcriptase receptor HIV active site is more affected by ribose modifications. The model herein indicates a geometrical lower limit in the width of the modified sugar that corresponds to the 3' erythro position.

Afaâcytin, an alpha beta-fibrinogenase from Cerastes cerastes (horned viper) venom, activates purified factor X and induces serotonin release from human blood platelets.

Afaâcytin, a proteinase with caseinolytic, arginine-esterase and amidase activities, was purified from the venom of Cerastes cerastes (horned viper) in two steps by gel filtration through Sephadex G75, then HPLC on carboxymethyl-cellulose. Afaâcytin has an isoelectric point of 6.25, and consists of two subunits, alpha and beta, which have the same apparent molecular mass (40,000) and are indistinguishable in the absence of reduction or/and deglycosylation.

A cytochrome cd1-type nitrite reductase isolated from the marine denitrifier Pseudomonas nautica 617: purification and characterization.

Nitrite reductase (cytochrome cd1) was purified to electrophoretic homogeneity from the soluble extract of the marine denitrifying bacterium Pseudomonas nautica strain 617. Cells were anaerobically grown with 10 mM nitrate as final electron acceptor. The soluble fraction was purified by four successive chromatographic steps and the purest cytochrome cd1 exhibited an A280 nm(oxidized)/A410nm(oxidized) coefficient of 0.

Promoter structure and intron-exon organization of a scorpion alpha-toxin gene.

The Androctonus australis scorpion venom contains alpha-toxins for which the complementary DNAs have been cloned [Bougis et al. (1989) J. Biol.

Joint-dependent mechanisms to adapt to an imbalance between flexion and extension forces in human gait.

In human gait, alternating leg flexion/extension movements essentially require the production of extension muscle forces due to the large contribution of passive forces to leg flexion. In this experiment, we studied the adaptive capabilities of walking subjects constrained with elastic cords which further facilitated leg flexion and impeded leg extension. In order to walk, the subjects let the moments created by the elastic cords increase the ankle flexion during the whole cycle, which allowed them to reduce part of these moments.

Angiotensin II effects on second messengers involved in prolactin secretion are mediated by AT1 receptor in anterior pituitary cells.

The two forms of angiotensin II (Ang II) receptors, AT1 and AT2 subtypes, have been demonstrated in many other cells beside the anterior pituitary cells. Attempting to investigate the subtype(s) of Ang II receptors implicated in the multiple transduction mechanisms involved in Ang II stimulation of prolactin (PRL) release by lactotropes, we studied the effect of selective nonpeptidergic Ang II antagonists on the PRL release, adenylate cyclase (AC), and phospholipase C activities. In intact cells, the AT1 antagonist DuP753 blocked Ang II-induced PRL release, reversed in a dose dependent manner Ang II-evoked inositol phosphates production, and inhibited completely the PLC and protein kinase C (PKC) dependent cAMP accumulation induced by Ang II.