Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality.

Some spontaneous germline gain-of-function mutations promote spermatogonial stem cell clonal expansion and disproportionate variant sperm production leading to unexpectedly high transmission rates for some human genetic conditions. To measure the frequency and spatial distribution of de novo mutations we divided three testes into 192 pieces each and used error-corrected deep-sequencing on each piece. We focused on PTPN11 (HGNC:9644) Exon 3 that contains 30 different PTPN11 Noonan syndrome (NS) mutation sites.

Driving Simulator Brake Reaction Parameters After Total Hip Arthroplasty According to Different Surgical Approaches.

Background: The aim of this study is to validate the point of normalization of braking following total hip arthroplasty (THA) and to determine the relevance of the surgical approach.

Methods: Brake reaction parameters (BRPs), including brake reaction time, total brake time, and brake pedal depression force were measured in 90 patients who underwent primary arthroplasty of the right hip (42 with direct anterior approach and 48 with posterolateral approach) using a modern driving simulator. The driving parameters were measured preoperatively and every 2 weeks postoperatively until the eighth week.

Anticancer effect of gene/peptide co-delivery system using transferrin-grafted LMWSC.

A series of ternary complex was designed to deliver psiRNA-bcl2 and (KLA)4 peptide into cancer cells for cancer therapy. The delivered psiRNA-bcl2 induced gene-silencing in a nucleus of cancer cells, while (KLA)4 peptide inhibited cancer growth via mitochondrial apoptosis, indicating that the ternary complexes exerted very strong synergistic effects on cancer growth suppression by acting on psiRNA-bcl2 and (KLA)4 peptide simultaneously. The ternary complexes having a targeting-ligand, transferrin (TfP), were found to be especially effective at binding to the TfP receptor rich cancer cells, HCT119.

[Effects of a cardiocerebrovascular disease prevention education program for postmenopausal middle-aged women].

Purpose: This study was conducted to examine effects of a cardiocerebrovascular disease (CVD) prevention education program on knowledge, self-efficacy and health behavior among postmenopausal middle-aged women.

Methods: A non-equivalent control group pretest-posttest design was used. Participants were 53 postmenopausal middle-aged women who registered in two community culture centers in G metropolitan city.

Degradation of fucoidans from Sargassum fulvellum and their biological activities.

A fucoidan extracted from Sargassum fulvellum, was degraded by ultrasound (US) or electron beam (EB) irradiation in the presence of hydrogen peroxide aqueous solution. From the energetic point of view, the most effective method for the fucoidan degradation was found to be EB radiation method in H2O2 with a yield of scission Gs 3.310 × 10(-8)mol/J at the reaction condition of 1.

3-aminopropyl functionalized magnesium phyllosilicate as an organoclay based drug carrier for improving the bioavailability of flurbiprofen.

This study aimed to develop an oral delivery system using clay-based organic-inorganic hybrid materials to improve the bioavailability of the drug, flurbiprofen, which is poorly soluble in water. 3-aminopropyl functionalized magnesium phyllosilicate (AMP clay) was synthesized by a one-pot direct sol-gel method, and then flurbiprofen (FB) was incorporated into AMP clay (FB-AMP) at different drug/clay ratios. The structural characteristics of AMP and FB-AMP formulation were confirmed by X-ray diffraction, Fourier transform infrared spectroscopy, and transmission electron microscopy.

Genome-wide enrichment screening reveals multiple targets and resistance genes for triclosan in Escherichia coli.

Triclosan is a widely used biocide effective against different microorganisms. At bactericidal concentrations, triclosan appears to affect multiple targets, while at bacteriostatic concentrations, triclosan targets FabI. The site-specific antibiotic-like mode-of-action and a widespread use of triclosan in household products claimed to possibly induce cross-resistance to other antibiotics.

Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B.

Multiple endocrine neoplasia type 2B (MEN2B) is a highly aggressive thyroid cancer syndrome. Since almost all sporadic cases are caused by the same nucleotide substitution in the RET proto-oncogene, the calculated disease incidence is 100-200 times greater than would be expected based on the genome average mutation frequency. In order to determine whether this increased incidence is due to an elevated mutation rate at this position (true mutation hot spot) or a selective advantage conferred on mutated spermatogonial stem cells, we studied the spatial distribution of the mutation in 14 human testes.

Flame retardant polyethylene/organo-nanocomposite foams cross-linked by electron beam irradiation.

Cross-linking of low-density polyethylene (PE)/organo-nanocomposite blends by electron beam irradiation was studied with the aim of flame retarding foam production by thermal expansion. Flammability and thermal properties of the obtained foams were studied and it was found that relatively low doses up to 42.5 kGy could be used leading to a product with excellent surface appearance and flame retardancy.

Flame retardant polymeric foams based on poly(ethylene vinylacetate)/clay nanocomposites.

Poly(ethylene vinylacetate)/clay nanocomposites were prepared by a "one pot" method, using Cloisite-Na+ with a compatibilizer at different ratios. The nano-composite prepared was used to prepare a flame retarding polymeric foams. Flame retarding properties were examined by the limiting oxygen index and cone calorimetry.

A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations.

Two nucleotide substitutions in the human FGFR2 gene (C755G or C758G) are responsible for virtually all sporadic cases of Apert syndrome. This condition is 100-1,000 times more common than genomic mutation frequency data predict. Here, we report on the C758G de novo Apert syndrome mutation.

Synthesis and anti-cancer efficacy of rapid hydrolysed water-soluble paclitaxel pro-drugs.

A new series of poly(ethylene glycol)(PEG)-paclitaxel conjugates that increases water solubility of paclitaxel was synthesized. We developed well-designed self-immolating linkers between a drug and a water-soluble polymer moiety which gave an extremely rapid hydrolysis rate to convert a pro-drug into a parent drug without any reduction in drug efficacy. The self-immolating spacer groups were introduced between the solubilizing PEG and C7-OH of paclitaxel in order to control the rate of enzymatic hydrolysis.

Augmented sphingosylphosphorylcholine-induced Ca2+-sensitization of mesenteric artery contraction in spontaneously hypertensive rat.

Sphingosylphosphorylcholine (SPC) is a vasoconstricting lysosphingolipid, and the RhoA/Rho-kinase pathway plays an important role in SPC-induced contraction. Since RhoA/Rho-kinase-mediated signaling is involved in the generation and/or maintenance of hypertension, we compared the effect of SPC on the contractility of endothelium-denuded small mesenteric arteries in spontaneously hypertensive rats (SHR) and Wistar Kyoto rats (WKY). Fura-2 Ca2+ signals, contractile responses, and phosphorylation of 20-kDa myosin light chains (MLC20) were measured.

A TRPV family ion channel required for hearing in Drosophila.

The many types of insect ear share a common sensory element, the chordotonal organ, in which sound-induced antennal or tympanal vibrations are transmitted to ciliated sensory neurons and transduced to receptor potentials. However, the molecular identity of the transducing ion channels in chordotonal neurons, or in any auditory system, is still unknown. Drosophila that are mutant for NOMPC, a transient receptor potential (TRP) superfamily ion channel, lack receptor potentials and currents in tactile bristles but retain most of the antennal sound-evoked response, suggesting that a different channel is the primary transducer in chordotonal organs.