Prenatal testing for Imprinting Disorders: A clinical perspective

Imprinting Disorders (ImpDis) are a group of congenital conditions caused by aberrant imprinting resulting in disturbed expression of parentally imprinted genes. ImpDis are rarely associated with major malformations, but pre- and/or postnatal growth and nutrition are often affected. In some ImpDis, behavioral, developmental, metabolic and neurological symptoms might present in the perinatal context or later in life, and in single ImpDis, there is a higher risk of tumors in childhood. Prognosis depends in part on the molecular cause of each ImpDis, but due to high clinical variability and (epi)genetic mosaicism, predicting the clinical outcome of a pregnancy solely based on the underlying molecular disturbance is difficult. Therefore, interdisciplinary care and treatment approaches play an important role in the management and decision making of affected pregnancies, especially taking into account fetal imaging in addition to genetic findings. Prenatal findings influence perinatal management, and thereby improve the prognosis of ImpDis associated with severe but sometimes transient clinical complications in the neonatal period. Therefore, prenatal diagnosis can be crucial for appropriate management not only to the pregnancy itself but might also have a life-long effect.     

A comparison of small-scale,pilot-scale and large-scale tests for predicting leaching behaviour of landfilled wastes

Landfills generate emissions over long periods, often longer than a lifetime. The longest lasting emission is leachate. In order to estimate the future requirements for leachate treatment, different kinds of leaching tests may be applied. In this paper, shaking leaching tests (SLT), landfill-simulator leaching tests and a field-cell leaching test performed with ash, municipal solid waste (MSW) and MSW+ash are evaluated. The tests are compared and the factors influencing leaching are identified and discussed. The factors are: liquid to solid (L/S) ratio, water withdrawal, recirculation rate, presence or absence of biological processes, size of particles, duration of experiment, temperature and pre-treatment of the waste. The presence of biological processes has the greatest impact on leaching and is the main reason why SLT is less useful for long-term predictions. The landfill simulator tests were found to be useful for several different kinds of predictions. However, they are not reliable for predicting the L/S required for reaching a certain concentration. The possibilities for reliable long-term predictions would be facilitated by a better knowledge of the influence of various factors on leaching. Such an increased knowledge would make it possible to enhance waste stabilisation in leaching tests as well as in full-scale landfills.     

Solute transport in crystalline rocks at Äspö — II: Blind predictions, inverse modelling and lessons learnt from test STT1

Based on the results from detailed structural and petrological characterisation and on up-scaled laboratory values for sorption and diffusion, blind predictions were made for the STT1 dipole tracer test performed in the Swedish Äspö Hard Rock Laboratory. The tracers used were nonsorbing, such as uranine and tritiated water, weakly sorbing ²²Na⁺, ⁸⁵Sr²⁺, ⁴⁷Ca²⁺and more strongly sorbing ⁸⁶Rb⁺, ¹³³Ba²⁺, ¹³⁷Cs⁺.Our model consists of two parts: (1) a flow part based on a 2D-streamtube formalism accounting for the natural background flow field and with an underlying homogeneous and isotropic transmissivity field and (2) a transport part in terms of the dual porosity medium approach which is linked to the flow part by the flow porosity.The calibration of the model was done using the data from one single uranine breakthrough (PDT3). The study clearly showed that matrix diffusion into a highly porous material, fault gouge, had to be included in our model evidenced by the characteristic shape of the breakthrough curve and in line with geological observations.After the disclosure of the measurements, it turned out that, in spite of the simplicity of our model, the prediction for the nonsorbing and weakly sorbing tracers was fairly good. The blind prediction for the more strongly sorbing tracers was in general less accurate. The reason for the good predictions is deemed to be the result of the choice of a model structure strongly based on geological observation. The breakthrough curves were inversely modelled to determine in situ values for the transport parameters and to draw consequences on the model structure applied. For good fits, only one additional fracture family in contact with cataclasite had to be taken into account, but no new transport mechanisms had to be invoked. The in situ values for the effective diffusion coefficient for fault gouge are a factor of 2–15 larger than the laboratory data. For cataclasite, both data sets have values comparable to laboratory data. The extracted K_d values for the weakly sorbing tracers are larger than Swedish laboratory data by a factor of 25–60, but agree within a factor of 3–5 for the more strongly sorbing nuclides. The reason for the inconsistency concerning K_ds is the use of fresh granite in the laboratory studies, whereas tracers in the field experiments interact only with fracture fault gouge and to a lesser extent with cataclasite both being mineralogically very different (e.g. clay-bearing) from the intact wall rock.     

Production of biofuels from microalgae

The production of biofuels from microalgae, especially biodiesel, has become a topic of great interest in recent years. However, many of the published papers do not consider the question of scale up and the feasibility of the various processes to be operated at the very large scale required if algal biofuels are to make a meaningful contribution to renewable fuels. All the steps in the process must also be very low cost. This paper discusses the unit processes required for algal biofuels production (i.e., growing the algae, harvesting, dewatering, extraction and conversion to biofuel) and their scalability. In many cases, especially in the lipid extraction step, little is known as yet as to the scalability and economic feasibility of the various processes proposed. We also highlight the key engineering and biological issues which must be resolved for the production of biofuels from microalgae to become an economic reality.