PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism.

We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good re- sponse to levodopa, early fluctuations and dyskinesias, and psychiatric symptoms. The mother, heterozygote for W437X mutation, was affected by Parkinson’s disease and 3 further relatives were reported affected, according to an autosomal dominant transmission

Enhancement and modeling of enzymatic hydrolysis on cellulose from Agave bagasse hydrothermally pretreated in a horizontal bioreactor

One of the major challenges in biofuels production from lignocellulosic biomass is the generation of high glucose titers from cellulose in the enzymatic hydrolysis stage of pretreated biomass to guarantee a cost-effective process. Therefore, the enzymatic saccharification on cellulose at high solid loading is an alternative. In this work, the agave bagasse was hydrothermally pretreated and optimized at 194°C/30min, obtaining a pretreated solid rich in cellulose content (>46.46%), and subjected to enzymatic hydrolysis at high solid levels. A horizontal bioreactor was designed for enzyme saccharification at high solid loadings [25% (w/v)]. The bioreactor improved mixing efficiency, with cellulose conversions up to 98% (195.6g/L at 72h). Moreover, mathematical modeling of cellulase deactivation demonstrated that cellulases lose most of their initial activity in the first hours of the reaction. Also, cellulose was characterized by X-ray diffraction, and the pretreated solids were visualized using scanning electron microscopy.This project was funded by the Secretary of Public Education of Mexico - Mexican Science and Technology Council (SEP-CONACYT) with the Basic Science Project-2015-01 (Ref. 254808). Marcela Sofía Pino also thanks the National Council for Science and Technology (CONACYT, Mexico) for her Master Fellowship support (grant number: 611312/452636), and Dr. Michele Michelin thanks the Portuguese Foundation for Science and Technology (FCT) for her postdoctoral fellowship (SFRH/BPD/100786/2014).info:eu-repo/semantics/publishedVersio

Prenatal Diagnosis of Clubfoot: A Review of Current Available Methodology

AbstractBackground:Clubfoot is one of the most common congenital limb deformities. Prenatal diagnosis of the condition is essential as it can help treat the malformation as early as possible. We reviewed the recent available literature concerning the current methods for prenatal diagnosis of clubfoot.Methods:The following databases were searched from 1966 to 2015: PubMed, OVID, Cochrane, CINAHL, Google scholar and Embase.Results:Out of a total number of 197 retrieved articles, after abstract or title page evaluation, 158 articles not matching the inclusion criteria were excluded. The full text versions of the remaining 39 articles were obtained, and their reference lists screened, with the addition of another 5 full-text articles.Conclusions:Currently, ultrasonography is considered the most reliable method of prenatal diagnosis of clubfoot. Ultrasonographic diagnosis of clubfoot appears more likely between the 18th and the 24th week of pregnancy. Alternative imaging is not indicated. There is no agreement whether to propose foetal karyotyping when isolated clubfoot is diagnosed by prenatal ultrasonography. Early detection of clubfoot should prompt a careful surveillance during pregnancy in order to detect any possible additional abnormalities and, if any of these are detected, invasive testing should be offered

Local adjuvants in surgical management of bone metastases.

Curettage is one of the most common method for surgical treatment of bone metastasis. Local adjuvant improve most commonly used for improving the effect of curettage in local cancer surgery may exerted their effects either chemically either physically; in Orthopedic Oncology the most common are phenol, liquid nitrogen, laser, and cement. This article reviewed the main characteristics of the most common chemical and physical agents used in bone oncology, emphasizing the toxic effects of some of them, especially phenol and liquid nitrogen

Enzymatic hydrolysis of hidrothermally pretreated agave bagasse

info:eu-repo/semantics/publishedVersio

Hot compressed water pretreatment and surfactant effect on enzymatic hydrolysis using agave bagasse

Agave bagasse is a residual biomass in the production of the alcoholic beverage tequila, and therefore, it is a promising raw material in the development of biorefineries using hot compressed water pretreatment (hydrothermal processing). Surfactants application has been frequently reported as an alternative to enhance monomeric sugars production efficiency and as a possibility to reduce the enzyme loading required. Nevertheless, the surfactants action mechanisms in the enzymatic hydrolysis is still not elucidated. In this work, hot compressed water pretreatment was applied on agave bagasse for biomass fractionation at 194 °C in isothermal regime for 30 min, and the effect of non-ionic surfactants (Tween 20, Tween 80, Span 80, and Polyethylene glycol (PEG 400)) was studied as a potential enhancer of enzymatic saccharification of hydrothermally pretreated solids of agave bagasse (AGB). It was found that non-ionic surfactants show an improvement in the conversion yield of cellulose to glucose (100%) and production of glucose (79.76 g/L) at 15 FPU/g glucan, the highest enhancement obtained being 7% regarding the control (no surfactant addition), using PEG 400 as an additive. The use of surfactants allows improving the production of fermentable sugars for the development of second-generation biorefineries.This project was funded by the Secretary of Public Education of Mexico—Mexican Science and Technology Council (SEP-CONACYT) with the Basic Science Project-2015-01 (Ref. 254808). Marcela Sofía Pino also thanks the National Council for Science and Technology (CONACYT, Mexico) for her Master Fellowship support (grant number: 611312/452636).info:eu-repo/semantics/publishedVersio

Effects of bone morphogenic protein 4 (BMP4) and its inhibitor, Noggin, on in vitro maturation and culture of bovine preimplantation embryos

<p>Abstract</p> <p>Background</p> <p>BMP4 is a member of the transforming growth factor beta (TGFbeta) superfamily and Noggin is a potent BMP inhibitor that exerts its function by binding to BMPs preventing interactions with its receptors. The aim of this work was to investigate the role of BMP4 and Noggin, on oocytes <it>in vitro </it>maturation (m experiments) and embryos <it>in vitro </it>development (c experiments) of bovine.</p> <p>Methods</p> <p>For m experiments, COCs were collected from slaughterhouse ovaries and <it>in vitro </it>matured in TCM with 100 ng/ml of either BMP4 or Noggin. After 24 h, the nuclear stage of the oocytes was determined by staining with Hoechst 33342. In addition, RT-qPCR was performed on MII oocytes to study the relative concentration of <it>ZAR1, GDF9, BAX, MATER </it>and <it>HSP70 </it>transcripts. Treated oocytes were submitted to parthenogenic activation (PA) or <it>in vitro </it>fertilization (IVF) and cultured in CR2. For c experiments, non-treated matured oocytes were submitted to PA or IVF to generate embryos that were exposed to 100 ng/ml of BMP4 or Noggin in CR2 until day nine of culture. Cleavage, blastocyst and hatching rates, expression pattern of the transcription factor Oct-4 in blastocysts and embryo cell number at day two and nine post-activation or fertilization were evaluated.</p> <p>Results</p> <p>We found that Noggin, as BMP4, did not affect oocyte nuclear maturation. Noggin supplementation up-regulated the expression of <it>HSP70 and MATER </it>genes in matured oocytes. Moreover, BMP4 during maturation increased the proportion of Oct-4 positive cells in parthenogenic embryos. On the other hand, when Noggin was added to embryo culture medium, developmental rates of parthenogenic and <it>in vitro </it>fertilized embryos were reduced. However, BMP4 addition decreases the development only for <it>in vitro </it>fertilized embryos. BMP4 and Noggin during culture reduced the proportion of Oct-4-expressing cells.</p> <p>Conclusions</p> <p>Our results show that BMP4 is implicated in bovine oocytes maturation and embryo development. Moreover, our findings demonstrate, for the first time, that a correct balance of BMP signaling is needed for proper pre-implantation development of bovine embryos.</p

O pré-tratamento hidrotérmico no conceito das biorrefinarias

Hoje em dia os pré-tratamentos precisam ser robustos, para num mesmo processo, se produzirem compostos de alto valor acrescentado, como os xilooligossacarídeos (XOS) que podem ser aplicados na indústria alimentar, farmacêutica e energética, além de isto a produção de substratos para a conversão em biocombustíveis, como o bioetanol, e assim reduzir os altos custos das biorrefinerias de segunda geração. Além disso, é fundamental no desenvolvimento de reatores que ajudem a eficientar o processo de aquecimento em processos hidrotérmicos. Por tanto, o processo hidrotérmico reúne as características para ser aplicado ao conceito de biorrefinaria de segunda geração. Neste trabalho, apresenta-se o fundamento, e uma serie aplicações do pré-tratamento hidrotérmico realizados no nosso grupo de trabalho

Bioreactor design for enzymatic hydrolysis of biomass under the biorefinery concept

The dependence on non-renewable resources, particularly fossil fuels, has awaken a growing interest in research of sustainable alternative energy sources, such as bioethanol. The production of bioethanol from lignocellulosic materials comprises three main stages, starting with a pretreatment, followed by an enzymatic hydrolysis step where fermentable sugars are obtained for the final fermentation process. Enzymatic hydrolysis represents an essential step in the bioethanol production, however there are some limitations in it that hinders the process to be economically feasible. Different strategies have been studied to overcome these limitations, including the enzyme recycling and the utilization of high solids concentrations. Several investigations have been carried out in different bioreactor configurations with the aim to obtain higher yields of glucose in the enzymatic hydrolysis stage; however, the commonest are Stirred Tank Bioreactors (STBR) and Membrane Bioreactors (MBR). In general, the key criteria for a bioreactor design include adequate mass transfer, low shear stress, and efficient mixing that allows the appropriated interaction between the substrate and the enzyme. Therefore, this review will address the main aspects to be considered for a bioreactor design, as well as, the operational conditions, some characteristics and mode of operating strategies of the two main bioreactors used in the enzymatic hydrolysis stage. Moreover, two types of pneumatically agitated bioreactors, namely bubble column and gas-lift bioreactors, are discussed as promising alternatives to develop enzymatic saccharification due to their low energy consumption compared with STBR.This work was financial supported by the Secretary of Public Education of Mexico – Mexican Science and Technology Council (SEPCONACYT) with the Basic Science Project-2015-01 (Ref. 254808), and the Energy Sustainability Fund 2014-05 (CONACYT-SENER), Mexican Centre for Innovation in Bioenergy (Cemie-Bio), and Cluster of Bioalcohols (Ref. 249564). The author Marcela Pino also thanks the National Council for Science and Technology (CONACYT, Mexico) for her Master Fellowship support (grant number: 611312/452636).info:eu-repo/semantics/publishedVersio