Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series

Mucopolysaccharidoses (MPS’s) represent a subgroup of lysosomal storage diseases related to a deficiency of enzymes that catalyze glycosaminoglycans degradation. Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder caused by a deficiency of α-l-iduronidase encoded by the IDUA gene. Partially degraded heparan sulfate and dermatan sulfate accumulate progressively and lead to multiorgan dysfunction and damage. The aim of this study is to describe the clinical, biochemical, and molecular characteristics of 13 Algerian patients from 11 distinct families. MPS I diagnosis was confirmed by molecular study of the patients’ IDUA gene. Clinical features at the diagnosis and during the follow-up are reported. Eighty-four percent of the studied patients presented with a mild clinical phenotype. Molecular study of the IDUA gene allowed the characterization of four pathological variations at the homozygous or compound heterozygote status: IDUA NM_00203.4:c.1598C>G-p.(Pro533Arg) in 21/26 alleles, IDUA NM_00203.4:c.532G>A-p.(Glu178Lys) in 2/26 alleles, IDUA NM_00203.4:c.501C>G-p.(Tyr167*) in 2/26 alleles, and IDUA NM_00203. 4: c.1743C>G-p.(Tyr581*) in 1/26 alleles. This molecular study unveils the predominance of p.(Pro533Arg) variation in our MPS I patients. In this series, the occurrence of some clinical features linked to the Scheie syndrome is consistent with the literature, such as systematic valvulopathies, corneal opacity, and umbilical hernia; however, storage signs, facial dysmorphic features, and hepatomegaly were more frequent in our series. Screening measures for these debilitating diseases in highly consanguineous at-risk populations must be considered a priority health problem.     

Modelling of flocculation using a population balance equation

In this paper, a model based on a population balance equation (PBE) is developed. It aims at reproducing experimental floc size distributions obtained at steady state in a jar-test. The objective is to develop a simple model, based on physical phenomena, and that does not contain any adjustable parameters. Floc size distributions obtained using a part of a particle image velocimetry (PIV) device and image analysis are used to develop mathematical expressions for the aggregation and breakage kernels. A critical volume beyond which breakage is of significant importance is identified and related to the hydrodynamics. Hydrodynamic sequencing allows the distribution of the daughter particles resulting from a breakage event to be established. The model is finally successfully validated against experimental results.     

Additive Manufacturing of Graphene–Hydroxyapatite Nanocomposite Structures

In this article, a powder‐bed class of additive manufacturing (AM) is incorporated into the manufacturing of graphene nanocomposite 3D structures. For AM of graphene‐based 3D structures, graphene oxide (GO)/hydroxyapatite (Hap) nanocomposite (GHN) was synthesized at different GO to Hap percentage (wt.%), including 0.2% and 0.4% to develop a printable powder. The synthesized powder was utilized in a powder‐bed AM system to fabricate 3D porous structures of GHN powder. It was shown that at layer thickness of 125 μm and core binder saturation level of 400%, the compressive mechanical strength of the samples with higher content of graphene was improved significantly.     

Wheat gluten-coated papers for bio-based food packaging: Structure,surface and transfer properties

The objective of the present work was to understand how the structural, surface, water vapour and gas barrier properties of wheat gluten (WG) coated paper could be influenced by the features of paper. For this purpose, a surface treated paper (TP) and an untreated paper (UTP) were compared. Penetration of WG-coating into the bulk of paper was more pronounced in UTP than TP. This led to the formation of a significant junction zone resulting in an interpenetrated structure for WG–UTP, suggesting a composite-like structure, while a bi-layer one was obtained for WG–TP. Differences in WG penetration were related to the hydrophilicity, roughness and porosity of the paper used. Even though the extent of penetration did not greatly affect the surface properties (water and oil resistance), the transfer properties (water vapour, O₂ and CO₂) of WG-coated papers were significantly improved when WG-coating highly penetrated: while the WG–TP behaved as a micro-perforated material, the WG–UTP behaved as WG-film.     

An anthropological view of western women's prodigious fasting: A review essay

Rudolph M. Bell (1985). Holy Anorexia. Epilogue by William N. Davis. Chicago: University of Chicago Press.

Joan Jacobs Brumberg (1988). Fasting Girls: The Emergence of Anorexia Nervosa as a Modern Disease. Cambridge: Harvard University Press.

Caroline Walker Bynum (1987). Holy Feast and Holy Fast: The Religious Significance of Food to Medieval Women. Berkeley: University of California Press.     

A Non-local Topology-Preserving Segmentation-Guided Registration Model

In this paper, we address the issue of designing a theoretically well-motivated segmentation-guided registration method capable of handling large and smooth deformations. The shapes to be matched are viewed as hyperelastic materials and more precisely as Saint Venant–Kirchhoff ones and are implicitly modeled by level set functions. These are driven in order to minimize a functional containing both a nonlinear-elasticity-based regularizer prescribing the nature of the deformation, and a criterion that forces the evolving shape to match intermediate topology-preserving segmentation results. Theoretical results encompassing existence of minimizers, existence of a weak viscosity solution of the related evolution problem and asymptotic results are given. The study is then complemented by the derivation of the discrete counterparts of the asymptotic results provided in the continuous domain. Both a pure quadratic penalization method and an augmented Lagrangian technique (involving a related dual problem) are investigated with convergence results.     

Experiments on dough rheology to improve screening of bread wheat cultivars

The bread‐making potential of flour may be roughly estimated by dough rheology, especially its tolerance to over‐mixing as determined with the farinograph. The objective of this study was to identify the relative effects of experimental conditions likely to affect dough mixing stability: mixer speed, temperature, salt, yeast and bread additives such as ascorbic acid and preservatives. The addition of 1–2% salt or ascorbic acid (50 mg kg^?1 flour) improved dough mixing stability and counteracted the negative effect of bread preservatives. Mixing salted dough at slow speed (63 rpm) and 25 °C might be a more realistic bread‐making procedure for performing dough rheology assays with equipment such as the farinograph, compared to official methods (only flour and water, no salt; 30 °C). Amongst five bread wheat cultivars, differences existed in dough strengthening response to both salt and ascorbic acid, a property that may find application in wheat breeding and screening.     

Iron (III) aquacomplexes as effective photocatalysts for the degradation of pesticides in homogeneous aqueous solutions

This study evaluated in-car and in-bus exposures to methyl-tertiary butyl ether (MTBE), benzene, and toluene on actual commuting routes, not hypothetical routes as used in many previous in-vehicle exposure studies of volatile organic compounds (VOCs). It focuses on four potentially influencing factors (transportation mode, passenger-car type, time of day, and season). A total of 40 passenger car commuters and 20 public bus commuters were recruited. The same commuters participated in both the summer and winter studies. The transportation mode, passenger-car type and commute season were all found to affect the in-vehicle levels of the target VOCs. Conversely, the commute time of day had little effect on the in-car and in-bus levels of the target compounds. The present study also confirmed that under Korean commuting conditions, passenger car and public bus interiors are important microenvironments for exposure to MTBE, benzene and toluene. This is supported by a previous finding that both in-car and in-bus air levels of the target VOCs tend to be much higher than ambient air levels of the compounds. Meanwhile, some spurious gasoline sold during the experimental periods appears to have elevated the in-car and in-bus exposures to toluene compared with those reported by some previous studies conducted in the same study area.