A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate

We report a 10-year-old boy with syndromic cleft lip and palate (CLP) and neuro-psychomotor developmental delay. Oligoarray comparative genomic hybridization (aCGH) detected an approximately 300 kb interstitial microduplication at 5p15.33 encompassing 5 protein-coding genes, including TERT and CLPTM1L, and two microRNA genes. Our findings suggest that the duplicated segment predisposes for cleft lip with or without cleft palate (CL/P), or any of the other phenotypic features presented by the patient. A gene coding a similar protein (CLPMT1) has been implicated in CLP etiology both through linkage studies and by a translocation disrupting the gene, indicating the possible involvement of CLPTM1L with CL/P. This is the first report of a possible connection between CLPTM1L and CLP.

Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis

Mutations of TUBA1A gene were first identified as causing a distinctive neuroradiologic phenotype characterized by cortical abnormalities ranging from classical lissencephaly to perisylvian pachygyria with dysgenetic corpus callosum, brainstem and cerebellum. We describe the clinical and neuroradiological features of a 3 years old girl carrying a novel missense TUBA1A mutation associated with asymmetrical polymicrogyria and provide structural data about the mutation. Our case confirm that the spectrum of tubulin-related cortical phenotypes is wide and that the screening of these genes should be implemented in patients with mid-hindbrain dysgenesis, partial of complete corpus callosum agenesis and varying degrees of cortical abnormalities.

The effect of improved efficiency on energy savings in EU-27 buildings

International audienceUtilising energy efficiency to lower energy demand in buildings is a key policy goal of the European Commission. This paper presents the results of bottom-up modelling to elucidate the impact of energy efficiency on the EU building stock up to 2050 under three different scenarios. The modelling is performed for eight individual EU countries and a ninth hypothetical entity that represents the remaining nineteen EU countries. The scenarios highlight the roles of different levels of efficiency improvements in the context of increasing floor area and the demand for energy services. From the results it can be concluded that the EC 2020 goals for primary energy savings can be met by focusing on a combination of minimum efficiency construction standards, improved conversion efficiency standards for final energy to useful energy, and a ≥2% annual improvement in end-use efficiency applied at the useful energy level. A comparison of the results obtained in the present study for Spain with the estimates of savings documented in the Spanish Energy Efficiency Action Plan indicate that the plan could lead to the closing of the energy efficiency gap for buildings in that country by 2020

Energy usage and technical potential for energy saving measures in the Swedish residential building stock

This paper provides an analysis of the current energy usage (net energy and final energy by fuels) and associated carbon dioxide (CO2) emissions of the Swedish residential building stock, which includes single-family dwellings and multi-family dwellings. Twelve energy saving measures (ESMs) are assessed using a bottom–up modeling methodology, in which the Swedish residential stock is represented by a sample of 1400 buildings (based on data from the year 2005). Application of the ESMs studied gives a maximum technical reduction potential in energy demand of 53%, corresponding to a 63% reduction in CO2 emissions. Although application of the investigated ESMs would reduce CO2 emissions, the measures that reduce electricity consumption for lighting and appliances (LA) will increase CO2 emissions, since the saved electricity production is less CO2-intensive than the fuel mix used for the increased space heating required to make up for the loss in indirect heating obtained from LA.

A possible new mechanism for the control of miRNA expression in neurons

The control of gene expression by miRNAs has been widely investigated in different species and cell types. Following a probabilistic rather than a deterministic regimen, the action of these short nucleotide sequences on specific genes depends on intracellular concentration, which in turn reflects the balance between biosynthesis and degradation. Recent studies have described the involvement of XRN2, an exoribonuclease, in miRNA degradation and PAPD4, an atypical poly(A) polymerase, in miRNA stability. Herein, we examined the expression of XRN2 and PAPD4 in developing and adult rat hippocampi. Combining bioinformatics and real-time PCR, we demonstrated that XRN2 and PAPD4 expression is regulated by the uncorrelated action of transcription factors, resulting in distinct gene expression profiles during development. Analyses of nuclei position and nestin labeling revealed that both proteins progressively accumulated during neuronal differentiation, and that they are weakly expressed in immature neurons and absent in glial and endothelial cells. Despite the differences in subcellular localization, both genes were concurrently identified within identical neuronal subpopulations, including specific inhibitory interneurons. Thus, we cope with a singular circumstance in biology: an almost complete intersected expression of functional-opposed genes, reinforcing that their antagonistically driven actions on miRNAs "make sense" if simultaneously present at the same cells. Considering that the transcriptome in the nervous system is finely tuned to physiological processes, it was remarkable that miRNA stability-related genes were concurrently identified in neurons that play essential roles in cognitive functions such as memory and learning. In summary, this study reveals a possible new mechanism for the control of miRNA expression.

Evaluation of efficacy of 18 strains of entomopathogenic nematodes (Rhabditida) against Planococcus citri (Risso, 1813) (Hemiptera: Pseudococcidae) under laboratory conditions

Planococcus citri (Risso, 1813) (Hemiptera: Pseudococcidae) is an important plant virus vector in grapevine crops in Brazil and other countries. The mealybug grows in roots and leaves of the grapes. Entomopathogenic nematodes (EPNs) are efficient control agents against insects associated to the soil and could be applied with the same equipment used for chemical insecticides. The aim of this study was to select effective EPNs for controlling P. citri females in laboratory conditions (25±1°C, UR 60±10%). We tested 17 native [Steinernema rarum (6 strains), Steinernema glaseri, Steinernema feltiae, Steinernema riobrave, Steinernema sp., Heterorhabditis bacteriophora (7 strains)] and only one exotic strain (Steinernema carpocapsae ALL). The bioassays were done on Petri dishes infested with females of P. citri, which were sprayed with EPNs juveniles. The strain with larger pathogenicity and virulence in laboratory was H. bacteriophora RS33 (from 69.0% to 92.2% of mortality), native of Rio Grande do Sul.

Replacement of the Y450 (c234) phenyl ring in the carboxyl‐terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity

The interplay between impaired protein biosynthesis and/or function caused by missense mutations, particularly in relation to specific protein regions, has been poorly investigated. As model we chose the severe p.Y450C mutation in the carboxyl‐terminal region of coagulation factor IX (FIX) and, by expression of a panel of recombinant variants, demonstrated the key role of the tyrosine phenyl group for both FIX secretion and coagulant activity. Comparison among highly homologous coagulation serine proteases indicate that additive or compensatory pleiotropic effects on secretion and function by carboxyl‐terminal mutations produce life‐threatening or mild phenotypes in the presence of similarly reduced protein amounts.

Impact of subclinical hypothyroidism in women with recurrent early pregnancy loss

To assess the impact of subclinical hypothyroidism (SCH) in women with recurrent early pregnancy loss (REPL).

Significant TSH changes induced by estrogen and progesterone administration in hypothyroid patients undergoing preparation for frozen embryo transfer

Effect of the pretreatment with acerola (Malpighia emarginata DC.) juice on ethanol-induced oxidative stress in mice – Hepatoprotective potential of acerola juice

Aim and Background Acerola (Malpighia emarginata DC.) is a tropical fruit known for its nutritional and functional properties due to its great contents vitamin C, carotenoids and anthocyanins. The antioxidant potential from plants extracts associated to hepatoprotective activity has been widely studied. However, the effect of antioxidants in natural fruit juice has not been fully searched. The aim of this work was to investigate the antioxidant properties of acerola juice and its hepatoprotective potential against acute ethanol-induced stress. Materials and methods Ripe acerola were collected, processed into juice and initially analyzed to antioxidant properties in vitro. Afterwards, in vivo hepatoprotective activity was evaluated in mice. The animals received the juice by gavage as pretreatment for 15 consecutive days and then, were submitted to ethanol-induced stress in single dose (5 g/kg). The activities of serum enzymes as well as lipid peroxidation degree were evaluated. The activities of serum marker enzymes for liver damage as well as lipid peroxidation degree were evaluated. Results Acerola juice presents great vitamin C (1799.5 mg/100 g FW) and total phenolic (188.4 mg GAE/100 g FW), anthocyanins (9.2 mg/100 g FW), flavonols (7.8 mg/100 g FW) contents and high activity of superoxide dismutase (1053.6 UA/g DM) with a total antioxidant activity of 137.5 μmol Trolox/g FW. The juice treatment inhibited lipid peroxidation and reduced the activities of aminotransferases (p ≤0.05), in mice liver. Conclusion These results indicate that acerola juice is able to prevent the hepatic damage induced by ethanol, probably as a result of an enhancement of the antioxidant status in the animals.