De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Next-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mutations in WAS protein family member 1 (WASF1) in five unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. WASF1, also known as WAVE1, is part of the WAVE complex and acts as a mediator between Rac-GTPase and actin to induce actin polymerization. The three mutations connected by Matchmaker Exchange were c.1516C>T (p.Arg506Ter), which occurs in three unrelated individuals, c.1558C>T (p.Gln520Ter), and c.1482delinsGCCAGG (p.Ile494MetfsTer23). All three variants are predicted to partially or fully disrupt the C-terminal actin-binding WCA domain. Functional studies using fibroblast cells from two affected individuals with the c.1516C>T mutation showed a truncated WASF1 and a defect in actin remodeling. This study provides evidence that de novo heterozygous mutations in WASF1 cause a rare form of intellectual disability

The performance of surfactant mixtures at low temperatures

Optimising detergency at lower temperatures is of increasing interest due to environmental and economic factors, and requires a greater understanding of the effects of temperature on the adsorption of surfactant mixtures at interfaces. The adsorption properties of surfactant mixtures and biosurfactant/surfactant mixtures have been studied at room temperatures and at temperatures below ambient using surface tension and neutron reflectivity measurements. For the ternary surfactant mixture of octaethylene monododecyl ether, C12E8, sodium dodecyl 6-benzene sulfonate, LAS, and sodium dioxyethylene glycol monododecyl sulfate, SLES, the surface tension at the air-water interface increases with decreasing temperature. In contrast, there is a notable reduction in the increase in the surface tension with a decrease in temperature from 25 °C to 10 °C for the 5 component rhamnolipid/surfactant mixture of the mono-rhamnose, R1, and di-rhamnose, R2, with C12E8/LAS/SLES. The associated neutron reflectivity data for the ternary C12E8/LAS/SLES mixture and the significant observation is that the 3, 4, and 5-component mixtures containing rhamnolipids in conjunction with the other surfactants show changes in composition and adsorbed amounts of the individual components which are close to the experimental error. However the significant observation is that the neutron reflectivity data indicate that the improved surface tension tolerance at lower temperatures is associated with the dominance of the rhamnolipid adsorption in such mixtures. Hence the introduction of the rhamnolipids provides a tolerance to the adverse effects associated with reduced temperatures, and a potential for improved detergency at relatively low temperatures

An assessment of the levels of phthalate esters and metals in the Muledane open dump, Thohoyandou, Limpopo Province, South Africa

<p>Abstract</p> <p>Background</p> <p>This work reports the determination of the levels of phthalate esters (dimethyl phthalate (DMP), diethyl phthalate (DEP), dibutyl phthalate (DBP), diethyl hexyl phthalate (DEHP)) and metals (lead, cadmium, manganese, zinc, iron, calcium) in composite soil samples. The soil samples were collected randomly within the Muledane open dump, Thohoyandou, Limpopo province, South Africa. Control samples were collected about 200 m away from the open dump. The phthalate esters were separated and determined by capillary gas chromatography with a flame ionization detector, whilst the metals were determined by atomic absorption spectrophotometry.</p> <p>Results</p> <p>Open dump values for the phthalate esters and metals to be generally higher in comparison to control samples for DMP, DEP, DBP and DEHP – the mean values calculated were 0.31 ± 0.12, 0.21 ± 0.05, 0.30 ± 0.07, and 0.03 ± 0.01 mg/kg, respectively, for the open dump soil samples. Nonetheless, the mean open dump values for lead, cadmium, manganese, zinc, iron and calcium were 0.07 ± 0.04, 0.003 ± 0.001, 5.02 ± 1.92, 0.31 ± 0.02, 11.62 ± 9.48 and 0.12 ± 0.13 mg/kg, respectively. The results were compared statistically.</p> <p>Conclusion</p> <p>Our results revealed that the discarding of wastes into the open dump is a potential source of soil contamination in the immediate vicinity and beyond, <it>via </it>dispersal. Increased levels of phthalate esters and metals in the soil pose a risk to public health, plants and animals. Sustained monitoring of these contaminants is recommended, in addition to upgrading the facility to a landfill.</p

Febre amarela silvestre: reemergência de transmissão no estado de São Paulo, Brasil, 2009

OBJECTIVE: To describe the investigation of a sylvatic yellow fever outbreak in the state of Sao Paulo and the main control measures undertaken.METHODS: This is a descriptive study of a sylvatic yellow fever outbreak in the Southwestern region of the state from February to April 2009. Suspected and confirmed cases in humans and in non-human primates were evaluated. Entomological investigation in sylvatic environment involved capture at ground level and in the tree canopy to identify species and detect natural infections. Control measures were performed in urban areas to control Aedes aegypti. Vaccination was directed at residents living in areas with confirmed viral circulation and also at nearby cities according to national recommendation.RESULTS: Twenty-eight human cases were confirmed (39.3% case fatality rate) in rural areas of Sarutaia, Piraju, Tejupa, Avare, and Buri. The deaths of 56 non-human primates were also reported, 91.4% were Allouatta sp. Epizootics was confirmed in two non-human primates in the cities of Itapetininga and Buri. A total of 1,782 mosquitoes were collected, including Haemagogus leucocelaenus, Hg. janthinomys/capricornii, and Sabethes chloropterus, Sa. purpureus and Sa. undosus. Yellow fever virus was isolated from a group of Hg. Leucocelaenus from Buri. Vaccination was carried out in 49 cities, with a total of 1,018,705 doses. Nine serious post-vaccination adverse events were reported.CONCLUSIONS: The cases occurred between February and April 2009 in areas with no recorded yellow fever virus circulation in over 60 years. The outbreak region occurred outside the original recommended vaccination area with a high percentage of susceptible population. The fast adoption of control measures interrupted the human transmission within a month and the confirmation of viral circulation in humans, monkeys and mosquitoes. The results allowed the identification of new areas of viral circulation but further studies are required to clarify the dynamics of the spread of this disease.Secretaria Estado Saude Sao Paulo, Ctr Vigilancia Epidemiol, Sao Paulo, BrazilSecretaria Estado Saude Sao Paulo, Inst Adolfo Lutz, Sao Paulo, BrazilSecretaria Estado Saude Sao Paulo, Sao Paulo, BrazilUniv Estadual Paulista, Botucatu, SP, BrazilUniv Estadual Paulista, Botucatu, SP, Brazi