LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3

Four of the currently recognized autosomal recessive limb-girdle muscular dystrophies (LGMD type 2C-F) are caused by mutations in the genes encoding components of the sarcoglycan complex. LGMD 2C, caused by mutations in gamma-sarcoglycan, is prevalent in northern Africa, especially in Tunisia, where this type of muscular dystrophy was originally described. Although the disease initially was assumed to be genetically homogeneous in this region, linkage to the alpha-sarcoglycan locus (LGMD 2D) has also been found. We have now identified the first Tunisian family with beta-sarcoglycanopathy (LGMD 2E), further adding to the genetic heterogeneity of autosomal recessive LGMD in this population. Direct sequencing of the beta-sarcoglycan gene revealed a homozygous mutation (G272-->T, Arg91Leu) in exon 3. This change affects the same arginine residue in the immediate extracellular domain of the protein that was mutated to a proline (G272-->C, Arg91Pro) in a Brazilian family with a severe form of the disease. Immunohistochemical analysis for the sarcoglycan complex demonstrates absence of the known components of the complex in both of these families. We postulate that the immediate extracellular domain of beta-sarcoglycan may be important for the assembly and/or maintenance of this complex, potentially mediated by disulfide-bond formation to another sarcoglycan via the single cysteine residue in that domain.     

Modelling of axis feed consumed energy for sustainable manufacturing

The accurate evaluation of electrical energy demanded by a CNC toolpath during a machining process is essential to determine its efficiency. Actually, the dynamic behavior of cutting forces seems to be neglected by investigators despite its influence on the consumed cutting energy during a face milling operation. This paper aims to investigate the effect of dynamic behavior of the machining system in order to take into account the dynamic response of the cutting forces on the axis feed power prediction. A dynamic cutting power model is developed in order to predict the consumed cutting energy. A parametric study is performed in order to show the impact of cutting conditions on the consumed energy values. The numerical results are compared to experimental ones.     

Friedreich''s ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient

PURPOSE: Percutaneous radiofrequency interstitial thermal ablation is a new method in local tumour therapy. The aim of this study was to define the relations between the variable parameters and local efficacy in vitro and to evaluate optimal parameter combinations for this system. Furthermore, we studied the feasibility of increasing the volume of destroyed tissue using perfusion electrodes. MATERIAL AND METHODS: Thermal lesions were produced with radiofrequency in ex vivo pig livers. In separate experiments the parameters wattage (5-30 watts), exposure time (1-15 minutes) and tip exposure were varied. The resulting areas of tissue necrosis coagulation were measured; in 30 of 90 cases the macroscopic findings were compared to the histological findings. RESULTS: Lesion size correlated with tip exposure, wattage and procedure duration up to 10 minutes. For a tip exposure of 2 cm (3 cm) the maximal lesion volume was 18.8 cm3 (33.2 cm3) at a wattage of 20 watts (30 watts) and a procedure duration of 10 minutes. The maximal cross- (length-) diameter of these lesions was 3 cm (4 cm) for 2 cm tip exposure and 3.6 cm (4.9 cm) for 3 cm tip exposure. CONCLUSION: The parameters wattage, procedure duration and tip exposure affect the size of lesions created with radiofrequency under ex vivo conditions. Perfusion electrodes make it possible to produce larger lesions than described for non-perfused electrodes. The ablation of hepatic neoplasms up to a size of 3 cm seems to be possible with a single electrode.     

Study of Failure Modes Affecting a Crimped Nut Related to Forging Process

In this current study, the problems caused by hot and cold forging—the two successive manufacturing process of a crimped nut—were investigated and resolved. The forged material is a leaded brass (CuZn39Pb2). Concerning the problem faced during hot forging (stamping), we chose a methodology based on the reproduction of industrial phenomena in laboratory scale. The study of this problem was conducted by micrographic and chemical analyses. For cold forging (crimping), a mechanical and microstructural characterization of the brass was performed in various conditions of heat treatment and shaping. Two items were proven in this study: (1) the use of graphite reduced the oxidation of the brass which was heated at the forging temperature to quarter; and (2) the heat treatment and annealing at 300°C avoided cracking during cold forging.     

An efficient Resource Management to optimize the placement of hardware task on FPGA in the RVC framework

Dynamic partial reconfiguration (DPR) functionality allows implementing multi-tasks applications by exchanging tasks in a design at run-time. It is a promising solution to enhance system performances. But, the effective use of DPR is often hampered by the complexity added to the system design process. In this paper, we investigate the implementation of a multi-tasks applications using the DPR in the RVC framework. We present a resource management method which includes three steps: partitioning the application in HW/SW tasks, divided the FPGA in static and dynamic regions and placement the tasks on FPGA. The proposed method is based on using linear programming strategy to find the optimal placement of hardware tasks. We take into account the heterogeneity aspect of the device. The goal is to minimize the resource utilization and fragmentation. We use RVC technology which is based on a specific language for writing dataflow models called RVC-CAL. This language describes the application as set of blocks called actors connected through a network. To test the efficiency of our approach, we exploit the decoder MPEG-4 SP described in RVC-CAL. We measure the quality of placement in terms of tasks rejection, execution time and resource wastage. Application of different data combinations and a comparison with the state-of-the art method show the high performance of the proposed approach.     

Experimental design to enhance the surface appearance,the internal structure,and the shear stresses of injected and metallized polycarbonate/acrylonitrile–butadiene-styrene parts

Polycarbonate (PC) and acrylonitrile–butadiene–styrene (ABS) possess thermal and mechanical properties, which make them materials of choice for automotive components. These properties have presented PC/ABS as an eligible replacement for metals in automotive industry. The aim of this study was to explore a new approach to determine the optimum conditions for obtaining quality and shear stresses of the injected and metalized PC/ABS parts. For this purpose, the following six injection-molding parameters such as material temperature (137 _ma ), injection pressure (P _inj ), holding pressure (P _h ), mold temperature (T _mo ), holding time (t _h ), and cooling time (t _c ) were considered at four different values. The effect of the injection parameters studied has been analyzed through the quality and the shear stresses values of the injected and metallized PC/ABS specimens. Optical microscopic and confocal laser scanning microscope (CLSM) results demonstrate that the occurrence of some defects such as weld line, blister, poor adhesion, metal residue, sand scratch. Moreover, scanning electron microscope (SEM) findings show the presence of core defects and solidified pellets. Shear stresses vary between 3.78 and 5.8 MPa for the injected specimens and 4.5 and 6.4 MPa for the metallized specimens. The optimum injection parameter combinations were conditioned by producing flawless injected and metallized PC/ABS parts having a significant shear stress value. Thus, the optimum combinations consists of: a T_ma of 260 °C, a P_inj ranging between 30 and 50 bar, a P_h ranging between 20 and 25 bar, a T_mo of 40 °C, a t_h ranging between 8 and 14 sec. and a t_c of 25 sec. These findings may have interesting applications in automotive part industry. © 2019 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2020 , 137, 48384.     

A statistical and geographical information system analysis for groundwater intrinsic vulnerability: a validated case study from Sfax–Agareb,Tunisia

The groundwater vulnerability to the pollution assessment was considered as an efficient tool to limit and to control its quantitative and qualitative degradation risks. The DRASTIC high, moderate and low groundwater vulnerability zones of the Sfax–Agareb basin (Tunisia) cover about 10, 29 and 61% of the study area, respectively. The validation of the DRASTIC vulnerability map was undertaken through comparison of areas of high nitrate concentration and their relative vulnerability index. The DRASTIC vulnerability map illustrates a good rate of coincidence between the nitrate concentration ranges and the various vulnerability classes as recognized by statistical analysis. The reliability of the final vulnerability map has been tested, showing a general positive trend relating the mean nitrate concentration in the wells to their relative vulnerability classes (R²=0.88). When correlating the 214 available groundwater nitrate concentrations to the DRASTIC index in these wells location, a significant positive correlation with Cor=0.55 was found.     

Protein,Lipid, Aliphatic and Triterpenic Alcohol Content of Caper Seeds “<Emphasis Type="Italic">Capparis spinosa</Emphasis>”

Capparis spinosa has a large natural distribution over the Mediterranean basin. It is used in traditional medicines, and it is one of the most commonly found aromatics in the Mediterranean kitchen. In this paper, the total storage protein and lipids of Tunisian Capparis spinosa seeds were investigated, and the quantities were ca. 27% and ca. 33%, respectively. In this study also the composition of the aliphatic and triterpenic alcohols of C. spinosa was characterized for the first time. Aliphatic alcohol contents were ca. 45 mg kg⁻¹ of total extracted lipids. Three compounds were identified, hexadecanol, octadecanol and tetracosanol, of which octadecanol was the major compound (ca. 28 mg kg⁻¹). Triterpenic alcohol content was 396.82 mg kg⁻¹. Citrostadienol was the major compound (ca. 170 mg kg⁻¹). β-Amyrin, gramisterol, cycloartanol and 2,4 methylcycloartenol were also detected and identified.