Background: Genetically-determined leukoencephalopathies comprise a rare group of inherited white matter disorders. The vast majority are associated with a progressive disease course and early death. This study seeks to determine the clinical and demographic correlates of stress in parents of leukodystrophy patients, for future clinical guidance. Methods: A cross-sectional study including 36 families was performed. Children aged 1 month to 12 years with a diagnosed leukodystrophy or genetically-determined leukoencephalopathy were included. 31 mothers and 24 fathers completed the Parental Stress Index, 4th edition (PSI-4). One demographic questionnaire was completed per family. Clinical data was gathered within 6 months of the questionnaires. Statistical analysis was performed with total stress (TS) scores as the primary outcome. Results: Mothers and fathers had comparable TS scores. No clinical or demographic factors predicted the father’s TS score. Greater ambulatory impairment, using the GMFCS scale, correlated to lower TS scores in the mother. Conclusions: The progressive nature of these conditions makes it such that anticipating a child’s inability to walk may cause more stress for mothers than a child’s actual inability to ambulate. The inability of all other variables to predict total stress highlights a need for individualized approaches when addressing stress in these families.

The evolution of textural properties of Na/Ca-bentonite from Wyoming (MX-80) was studied by adsorption of nitrogen, water vapour, and ethylene glycol monoethyl ether. Clay suspensions were heated at 80 and 300ºC for up to 9 months in the absence of or in the presence of Fe and/or Fe oxides. The treatment without Fe did not change the textural properties of the samples significantly. The treatment at 80ºC in the presence of Fe resulted in a considerable increase in the external surface areas of the samples. The total and external surface areas and swelling capacities of the samples decreased following the treatment at 300ºC in the presence of Fe and Fe oxides. In the case of larger additions of Fe, the treatment at 300ºC resulted in a considerable decrease in the total and external surface areas and swelling capacity of the sample and in the formation of a network of large-size pores, in which all the pores were connected.

Physicochemical properties of representative samples from talc deposits discovered at Pout-Kelle and Memel in Cameroon have been investigated using a variety of techniques. The data allow the study of the mineral crystal-chemistry, chemical and modal compositions, grain size distribution, textures and surface heterogeneity, and morphometric characteristics. As a result, we found that talc (platy or round, Fe-rich) prevails (65–90%) over Cr-chlorite (7–26%), halloysite, chromite, rutile, brucite and magnesite. Chemically, talc ores are made up of SiO2, MgO, Fe2O3 and minor Al2O3. Mode values range from 50 to 55 μm at Memel and from 30 to 90 μm at Pout-Kelle. Specific surface areas measured by BET and t-plot methods range from 1.3 to 2.5 m2/g. The large values of morphometric characteristics are indicative of high crystallinity and platiness. Potential uses of these talc ores in the rubber, plastics and paper industries require beneficiation processes. Interestingly, the Memel deposit and most zones of the Pout-Kelle deposit are free of needle-shaped crystals, an advantage for environmental safety.

The surface properties of various synthetic layered silicates, Na-kanemite, Nakenyaite and magadiite, exchanged with H, K and Ca, were examined using high-resolution nitrogen and argon adsorption and the data were treated using the Derivative Isotherm Summation method. Using argon as an adsorbate, the aspect ratio of platelets can be determined. In the case of magadiite exchanged with various cations, the stacking of particles is influenced by the nature of the exchangeable cations, thicker platelets being observed for ions with low polarizability. Highresolution argon adsorption data also confirm some structural information previously deduced from Raman spectroscopy experiments concerning the existence of rather open six-membered rings at the surfaces of both magadiite and kenyaite. Furthermore, in the low-energy domain of the isotherms, argon forms a very organized film on basal planes, suggesting a commensurate relationship between silica framework and argon atoms for both magadiite and kenyaite, contrary to what is observed for kanemite. Nitrogen adsorption results reveal the presence of polar sites on the surface of all the investigated minerals but does not allow us to propose an unequivocal assignment for such sites.

Montmorillonite-water-cation systems were characterized using high-frequency impedance spectroscopy by studying the influence of the solid concentration and the nature of the exchangeable cation (Na+, K+, Ca2+) on the dielectric characteristics of the dispersions. A new method is proposed to calculate the relaxation frequency (fr) and the dispersion factor (α) from a limited number of impedance measurements. By comparison with rheology, microscopy, X-ray diffraction and immersion calorimetry results, it is shown that impedance spectroscopy is a very powerful technique which yields structural information on a complex system. For Na-montmorillonite, two transitions are observed at 2.5% and 3.6% in solids. The cation mobility and the number of connections between particles are described by fr and α, respectively. The two transitions can then be attributed to the formation of the gel and to the reduction of the macroporosity within the gel, respectively. For Ca-montmorillonite, thick layer-stacks form at the lowest concentrations, and connections between these stacks are observed at 9% in solids, in good aggrement with rheological measurements. The K-montmorillonite displays progressive thickening of the tactoids, and no formation of a unique connected network, as revealed by the smooth evolution of fr and α.

Ten montmorillonites of different origins with variable Fe contents were analysed using transmission IR spectroscopy. Special attention was devoted to the OH-bending region to obtain information about the distribution of octahedral cations. For low to medium Fe contents (≤0.56 per Si8 formula unit), a linear relationship between the position of the δAlFeOH band and Fe content was observed. Such correlation might be explained by changes in the cis-trans occupancy of Fe in the octahedral sheet. Deconvolution of the OH-bending domain allows us to discriminate three components (δAlAlOH, δAlMgOH and δAlFeOH) which are correlated with cation abundances derived from chemical analysis. The relative area of each band can then be compared with theoretical areas calculated assuming a fully random distribution of cations in the octahedral sheet. Using such treatment, eight of the 10 montmorillonites studied presented a nearly randomized octahedral distribution. The two samples from Wyoming were clearly different as they exhibited a strong ordering tendency.

The Lembo clay deposit occurs on orthogneiss, but it also comprises clays with litho-relicts of volcanic rocks. In this study, ten samples from two sites were investigated. The mineralogical compositions consisted of kaolinite + halloysite + illite + quartz + hematite + anatase ± rutile ± orthoclase ± sanidine ± magnetite ± maghemite ± goethite ± Ba-Al-Fe-phosphates ± carbonates ± sulphates. Kaolinite-halloysite and quartz are the prevailing minerals. Some volcanicderived clays contain Fe-rich kaolinite-halloysite (9.6–14.1 wt.% Fe2O3). The chemical compositions, colours and specific surface area (SSA) measurements reveal two groups of clays: one with a positive whiteness index (IB), small SSA and small Fe content, and the other showing a large SSA, negative IB and relatively large Fe contents. The compositions of the first group are close to those of clays from the Mayouom deposit (Cameroon), and from some European commercial kaolins used in ceramics. Relatively Fe-rich clay materials may conform to most formulations of earthen bricks. As a whole, the Lembo clay deposit comprises various compositions of kaolinitic clays, which may yield the opportunity for extensive application in ceramics.

Background: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder characterized by hypomyelination, hypodontia and hypogonadotropic hypogonadism caused by mutations in POLR3A, POLR3B and POLR1C. The endocrine abnormalities have never been systematically studied. Methods: A cross sectional international multicenter study was performed and the following variables were assessed: weight, height, head circumference, pubertal history, hormone levels and neurological and non-neurological features. Data was analyzed to determine whether there was a correlation between the presence of endocrine abnormalities and mutations in a specific gene and/or the presence of specific symptoms such as other non-neurological symptoms. Results: Data was collected on 156 patients. Endocrine data were available for 144 patients. The most common endocrine abnormalities seen in this cohort were short stature (54/90 patients (60%)) and delayed puberty (53/70 patients (76%)). 13 of the 58 patients tested (22%) had abnormal thyroid function. Patients with POLR3A mutations were more likely to have endocrine abnormalities. Conclusions: Our results confirm that the most common endocrine features in 4H leukodystrophy are short stature and pubertal abnormalities. However, the other potential endocrine abnormalities are typically under-investigated in this patient population. A prospective study is required to investigate the extent and severity of the endocrine abnormalities in 4H leukodystrophy.

Background: Genetic leukoencephalopathies are a group of neurodegenerative diseases imposing a great burden on patients and families. There is no previous systematic study looking at the impacts of these diseases. Methods: HRQOL was assessed using the Pediatric Quality of Life Inventory (PedsQL) model. A total of 24 patients with genetically determined leukoencephalopathies and their family members completed the PedsQL questionnaires. Detailed clinical assessments were performed at the time the questionnaires were filled. HRQOL results were correlated with the severity of the clinical features and the presence vs. absence of a definitive molecular diagnosis. Results: Preliminary results show lower PedsQL total scores for patients without compared to with a molecular diagnosis. Emotional and physical functioning scores were significantly impaired in patients without a molecular diagnosis. Lower total scores were obtained for patients who presented more severe clinical features such as lost ambulatory functions and dysphagia. Conclusions: Overall, our preliminary results indicate that patients without a molecular diagnosis have an impaired HRQOL and that more severely affected patients have a poorer HRQOL. Further analyses and studies on a larger population of patients in a prospective fashion are required to assess the burden of these diseases and identify potential modifiable factors.

There is an urgent need to develop new technologies to address the problem of soil remediation in high-latitude regions. A field study was initiated in January 1997 in two contaminated soils in Terre Adélie (Antarctica) with the objective of determining the long-term effectiveness of two bioremediation agents on total and hydrocarbon-degrading microbial assemblages under severe Antarctic conditions. This study was conducted in two steps, from January to July 1997 and from February to November 1999 in the Géologie Archipelago (Terre Adélie, 66°40′S, 140°01′E). Changes in bacterial communities were monitored in situ after crude oil or diesel addition in a series of 600 cm2 soil sectors (20×30 cm). Four contaminated sectors were used for each experiment: diesel oil (10 ml), diesel oil (10 ml) + fertilizer (1 ml), Arabian light crude oil (10 ml), and crude oil (10 ml) + fertilizer (1 ml). Two different bioremediation agents were used: a slow release fertilizer Inipol EAP-22 (Elf Atochem) in 1997 and a fish compost in 1999. Plots were sampled on a regular basis during a three-year period. All samples were analysed for total, saprophytic psychrophilic, and hydrocarbon-utilising bacteria. A one order of magnitude increase of saprophytic and hydrocarbon-utilising micro-organisms occurred during the first month of the experiment in most of the contaminated enclosures, but no clear differences appeared between fertilized and unfertilized plots. Diesel-oil contamination induced a significant increase of all bacterial parameters in all contaminated soils. Crude-oil contamination had no clear effects on microbial assemblages. It was clear that the microbial response could be rapid and efficient in spite of the severe weather conditions. However, microbial growth was not clearly improved in the presence of bioremediation agents.

In this brief communication, we present some progress in the investigation of a most promising model that was designed to combine ejection with accretion. In this model, a bipolar configuration of opened magnetic field lines that thread the accretion disk, allows the extraction of angular momentum, the acceleration of matter up to super Alfvénic velocities and the self collimation of the jet. However, important issues have remained unsolved. First, a systematic method for solving the jet MHD equations with their critical surfaces was lacking. Second, the capability of accretion disks to generate super Alfvénic jets was unknown. Third, the back-reaction of the ejection on the accretion disk dynamics and its energetics remained to be done. Solving these three points led us to draw some noteworthy consequences for the understanding of AGNs.

The spectral evolution of white dwarfs is governed by diffusion processes which enter into competition with mechanisms such as mass loss, convective mixing, and accretion from the interstellar medium in various phases of the evolution. Until recently, our theoretical understanding of the chemical evolution of these stars has been limited by the very severe numerical difficulties which plague a time-dependent description of the problem. Indeed, diffusion problems in white dwarf interiors and envelopes are particularly demanding from a computational standpoint: they involve relative chemical abundances spanning many orders of magnitude, time integration length of a few billion years, and many physical processes operating with greatly different time constants. We have already introduced in the field a robust numerical technique based on an implicit finite difference scheme designed for nonlinear two-point boundary value problems (Pelletier 1986). This method has been used to investigate a number of problems related to the spectral evolution of white dwarfs (Pelletier 1986; Pelletier et al. 1986; Dupuis et al. 1987). As requirements for further progress in the field become more exacting and in the interest of improving the efficiency, we have sought to develop even more powerful numerical techniques. We briefly introduce here an efficient computational approach to diffusion problems in white dwarfs based on a Galerkin finite element method to solve the convective-diffusion equation in an evolving white dwarf model. As an illustrative example, we discuss some sample results of a detailed investigation of the problem of chemical sedimentation (H, He, and C) in the envelopes of hot white dwarfs and the formation of DA stars.

Gravitational settling is widely accepted as being a fundamental physical process acting upon superficial layers of white dwarfs and resulting in an important alteration of their atmospheric composition. Several investigators have been interested by the problem of gravitational settling in white dwarfs (Fontaine and Michaud 1979; Vauclair, Vauclair, and Greenstein 1979; Alcock and Illarianov 1980; Muchmore 1984; Paquette et al. 1986). As pointed out in Paquette et al. 1986, they all reached the same qualitative conclusion: the gravitational settling time scales of metals in cool white dwarfs are small compared to their evolutionary time scales. These stars should therefore have their photospheres depleted of metals if there is no extrinsic source such as accretion for example. This is consistent with the observational fact that most of the cool white dwarfs spectra just show hydrogen and helium lines while the absence of metallic lines indicates a strong depletion of metals. Although the qualitative agreement between theory and observations is satisfactory, only time-dependent calculations can lead to a thorough understanding of the heavy element abundance patterns in cool white dwarfs. In particular, the predicted abundance of an element within the framework of the accretion-diffusion model does depend explicitly on the results of such calculations. We have already presented some preliminary results of numerical simulation of accretion episodes of heavy elements into white dwarfs (Dupuis et al. 1987). As part of an ongoing detailed investigation of these processes, we focus here exclusively on the mechanism of gravitational settling in white dwarfs in order to clear some confusion which has appeared in the literature.