Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

BACKGROUND: Ultrarare Marshall-Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development and behaviour are studied and compared in a cross-sectional study, and results are presented with genetic findings. METHODS: Behavioural phenotypes are compared of eight individuals with Marshall-Smith syndrome (three male individuals) and seven with Malan syndrome (four male individuals). Long-term follow-up assessment of cognition and adaptive behaviour was possible in three individuals with Marshall-Smith syndrome. RESULTS: Marshall-Smith syndrome individuals have more severe ID, less adaptive behaviour, more impaired speech and less reciprocal interaction compared with individuals with Malan syndrome. Sensory processing difficulties occur in both syndromes. Follow-up measurement of cognition and adaptive behaviour in Marshall-Smith syndrome shows different individual learning curves over time. CONCLUSIONS: Results show significant between and within syndrome variability. Different NFIX variants underlie distinct clinical phenotypes leading to separate entities. Cognitive, adaptive and sensory impairments are common in both syndromes and increase the risk of challenging behaviour. This study highlights the value of considering behaviour within developmental and environmental context. To improve quality of life, adaptations to environment and treatment are suggested to create a better person-environment fit.

CFD simulation of fluid dynamic and biokinetic processes within activated sludge reactors under intermittent aeration regime.

Due to the aeration system, biological reactors are the most energy-consuming facilities of convectional WWTPs. Many biological reactors work under intermittent aeration regime; the optimization of the aeration process (air diffuser layout, air flow rate per diffuser, aeration length …) is necessary to ensure an efficient performance; satisfying the effluent requirements with the minimum energy consumption. This work develops a CFD modelling of an activated sludge reactor (ASR) which works under intermittent aeration regime. The model considers the fluid dynamic and biological processes within the ASR. The biological simulation, which is transient, takes into account the intermittent aeration regime. The CFD modelling is employed for the selection of the aeration system of an ASR. Two different aeration configurations are simulated. The model evaluates the aeration power consumption necessary to satisfy the effluent requirements. An improvement of 2.8% in terms of energy consumption is achieved by modifying the air diffuser layout. An analysis of the influence of the air flow rate per diffuser on the ASR performance is carried out. The results show a reduction of 14.5% in the energy consumption of the aeration system when the air flow rate per diffuser is reduced. The model provides an insight into the aeration inefficiencies produced within ASRs.

Experimental determination of drift and PM10 cooling tower emissions: Influence of components and operating conditions.

Cooling tower emissions have become an increasingly common hazard to the environment (air polluting, ice formation and salts deposition) and to the health (Legionella disease) in the last decades. Several environmental policies have emerged in recent years limiting cooling tower emissions but they have not prevented an increasing intensity of outbreaks. Since the level of emissions depends mainly on cooling tower component design and the operating conditions, this paper deals with an experimental investigation of the amount of emissions, drift and PM10, emitted by a cooling tower with different configurations (drift eliminators and distribution systems) and working under several operating conditions. This objective is met by the measurement of cooling tower source emission parameters by means of the sensitive paper technique. Secondary objectives were to contextualize the observed emission rates according to international regulations. Our measurements showed that the drift rates included in the relevant international standards are significantly higher than the obtained results (an average of 100 times higher) and hence, the environmental problems may occur. Therefore, a revision of the standards is recommended with the aim of reducing the environmental and human health impact. By changing the operating conditions and the distribution system, emissions can be reduced by 52.03% and 82% on average. In the case of drift eliminators, the difference ranges from 18.18% to 98.43% on average. As the emissions level is clearly influenced by operating conditions and components, regulation tests should be referred to default conditions. Finally, guidelines to perform emission tests and a selection criterion of components and conditions for the tested cooling tower are proposed.

Hydraulic characterization of an activated sludge reactor with recycling system by tracer experiment and analytical models.

Fluid dynamic behaviour plays an important role in wastewater treatment. An efficient treatment requires the inexistence of certain hydraulic problems such as dead zones or short-circuiting flows. Residence time distribution (RTD) analysis is an excellent technique for detecting these inefficiencies. However, many wastewater treatment installations include water or sludge recycling systems, which prevent us from carrying out a conventional tracer pulse experiment to obtain the RTD curve of the installation. This paper develops an RTD analysis of an activated sludge reactor with recycling system. A tracer experiment in the reactor is carried out. Three analytical models, derived from the conventional pulse model, are proposed to obtain the RTD curve of the reactor. An analysis of the results is made, studying which model is the most suitable for each situation. This paper is useful to analyse the hydraulic efficiency of reactors with recycling systems.

Fluid dynamic analysis of a continuous stirred tank reactor for technical optimization of wastewater digestion.

Continuous stirred tank reactors (CSTR) are widely used in wastewater treatment plants to reduce the organic matter and microorganism present in sludge by anaerobic digestion. The present study carries out a numerical analysis of the fluid dynamic behaviour of a CSTR in order to optimize the process energetically. The characterization of the sludge flow inside the digester tank, the residence time distribution and the active volume of the reactor under different criteria are determined. The effects of design and power of the mixing system on the active volume of the CSTR are analyzed. The numerical model is solved under non-steady conditions by examining the evolution of the flow during the stop and restart of the mixing system. An intermittent regime of the mixing system, which kept the active volume between 94% and 99%, is achieved. The results obtained can lead to the eventual energy optimization of the mixing system of the CSTR.