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Background: The vast majority of chronic myeloid leukemia (CML) patients have a single translocation t(9;22)(q34;q11), BCR/ABL1 fusion genes, which is regarded as the hallmark of CML. However, around 5 to 10% of CML patients exhibit the involvement of a third chromosome. In some very rare cases a fourth or even fifth chromosome can be involved with the t(9;22)., Methods: This case report is based on a 40-year-old Saudi Arabian male patient, diagnosed with CML in lymphoid blast crisis, and observed to have a four-way 46 XY, t(9;22;5;2)(q34;q11.2;p13;q44) translocation. The BCR/ABL1 fusion was identified by fluorescent in situ hybridization (FISH). Additionally, the BCR/ABL1 p210 mRNA fusion transcripts were identified by a molecular test., Results: The clinical and prognostic impact of additional partner chromosomes to t(9;22) remains unknown. The CML patient with this novel four-way translocation t(9;22;5;2) progressed to blast crisis and was resistant to Tyrosine Kinase Inhibitor (TKI) therapy. Therefore, this case is more in alignment with the negative impact of additional partner chromosomes to the translocation at t(9;22)., Conclusion: Here we report for the first time a novel four-way translocation at t(9;22;5;2)(q34;q11.2;p13;q44)., (© 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

Non-covalent interactions between polysaccharides and phenolics affect the physical properties of polysaccharide solutions. These interactions may in turn be influenced by polysaccharide-polysaccharide interactions. To test this hypothesis, we studied the influence of polysaccharide concentration (with guar, β-glucans, and xanthan) on the variations of rheological and water-binding properties upon addition of phenolics compounds (vanillin, caffeic acid, gallic acid, and epigallocatechin gallate). Addition of phenolics led to increased flow behavior index and decreased flow consistency index, with maximum effects at polysaccharide concentrations ranging between 0.6 × C* and 1.4 × C*, where C* is the critical overlap concentration of each polysaccharide. Water mobility was generally not significantly influenced by the addition of phenolics. The results showed that the ability of phenolic compounds to induce aggregation of polysaccharides in solution was strongly influenced by polysaccharide concentration around C* and therefore by polysaccharide-polysaccharide interactions., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

In this study, the activity concentration of polonium 210 in cigarette for Tunisian consumers was investigated by alpha spectrometry. After chemical digestion of tobacco, 210 Po was extracted, auto-deposited on disc and measured. The activity of 210 Pb was assessed after radioactive equilibrium was achieved. The activity levels of 210 Po ranged between 7.8 ± 0.3 and 17 ± 0.5 mBq per cigarette with an average of 12.9 ± 0.4 mBq per cigarette. Effective doses per year due to cigarette smoking were calculated assuming that 22% of the 210 Pb and 210 Po in tobacco were retained in the lungs of the smokers. It is concluded that for a smoker in Tunisia, the average effective dose is about 90.6 ± 3.3 μSv per year for a cigarette consumption of one pack of cigarettes per day. This value is somewhat lower than 106.4 ± 5.3 μSv per year estimated as the mean global effective dose from smoking.

Purpose: To summarize the main findings from research on food uses of Pine Bark Phenolic Extracts (PBPE), their origin, methods of extraction, composition, health effects, and incorporation into food products., Methods: A narrative review of all the relevant papers known to the authors was conducted., Results: PBPE are mainly extracted from the bark Pinus pinaster. They are generally rich in procyanidins and their effects on health in the form of nutritional supplements include effect on some forms of cancer, on diabetes, on eye and skin health. Their method of extraction influences greatly their composition and yield, and commercially suitable methods are still to be developed. Incorporation into food products raises challenges related to bioavailability and subsequent bioactivity and sensory properties of the final products., Conclusion: PBPE represent an opportunity for the development of functional foods with phenolic-rich bioactive compounds., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Hereditary axonal motor and sensory neuropathy or Charcot-Marie-Tooth type 2 (CMT2) is a common inherited peripheral neuropathy. Major symptomatologic signs vary from minimal to significant weakness and loss of sensation, feet usually affected more than hands. It may also cause visual acuity impairment, hearing loss, and skeletal deformity. CMT2 classification is based on the clinical, electrophysiological, and genetic inheritance pattern. Dominant CMT2 is classified from CMT2A to CMT2N and recessive CMT2 into CMT2B1 and CMT2B2. CMT2A is the most frequent subtype of CMT2 and caused by mutations in the mitofusin 2 (MFN2) gene. We hereby report a Saudi Arabian CMT2A patient with a variant c.58C>T of the MFN2 gene mutation.

Hexadecane-in-water emulsions were fabricated by means of a microfluidizer using two types of protein stabilizers, sodium caseinate (NaCAS) and β-lactoglobulin (BLG). A study of the dependence of the mean droplet diameter and protein coverage on protein concentration was performed. At low protein concentrations, the emulsions were monodispersed and their mean droplet size was governed by the so-called limited-coalescence process. In this regime, the interfacial coverage was constant and was deduced from the linear evolution of the total interfacial area as a function of the amount of adsorbed proteins. In emulsions based on NaCAS, almost all of the initial protein contents were adsorbed at the interfaces. Emulsions formulated at very low protein content underwent unlimited coalescence after prolonged storage or when submitted to centrifugation. Additional NaCAS was incorporated in the continuous phase, right after the emulsification process, as a means of ensuring kinetic stability. The interfacial coverage increased after protein addition. Other strategies including acidification and salt addition were also probed to gain stability. Instead, in emulsions based on BLG, only partial adsorption of the initial protein content was observed. The corresponding emulsions remained kinetically stable against coalescence, and no further addition of protein was required after emulsification. Our approach allows to obtain monodisperse, kinetically stable emulsions and to master their average droplet size, while minimizing the amount of proteins.

An experimental device based on the measurement of the heat flux dissipated during chemical reactions, previously validated for monitoring lipid oxidation in plant oils, was extended to follow lipid oxidation in water-in-oil emulsions. Firstly, validation of the approach was performed by correlating conjugated diene concentrations measured by spectrophotometry and the heat flux dissipated by oxidation reactions and measured directly in water-in-oil emulsions, in isothermal conditions at 60°C. Secondly, several emulsions based on plant oils differing in their n-3 fatty acid content were compared. The oxidability parameter derived from the enthalpy curves reflected the α-linolenic acid proportion in the oils. On the whole, the micro-calorimetry technique provides a sensitive method to assess lipid oxidation in water-in-oil emulsions without requiring any phase extraction., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

Braddock-Carey Syndrome (BCS) is characterized by microcephaly, congenital thrombocytopenia, Pierre-Robin sequence (PRS), and agenesis of the corpus callosum. BCS has been shown to be caused by a 21q22.11 microdeletion that encompasses multiple genes. Here, we report a BCS genocopy characterized by congenital thrombocytopenia and PRS that is caused by a loss-of-function mutation in KIF15 in a consanguineous Saudi Arabian family. Mutations of mitotic kinesins are a well-established cause of microcephaly. To our knowledge, KIF15 is the first kinesin to be associated with congenital thrombocytopenia., (© 2017 Wiley Periodicals, Inc.)

More than 300 mutations were identified in Calpainopathy (CAPN3) gene in limb-girdle muscular dystrophy type 2A (LGMD2A) patients. LGMD2A type is also known as Calpainopathy, which is characterized by selective atrophy and weakness of proximal limb muscles. We report a Saudi Arabian family with weakness in limb-girdle distribution: waddling gait, positive Gowers' sign, and marked muscle atrophy in the shoulder and pelvic girdle muscles. We sequenced all exonic and intronic regions of the CAPN3 gene and identified c.1699 G>A variant as a novel variant not previously described in other patients. In silico predictions indicate that this is probably a disease-causing mutation. Here, for the first time, we report this c.1699 G>A new variant in the CAPN3 gene that can be considered as a robust genetics factor causing LGMD2A disease.

Single crystals of a new variety of tetra-sodium copper(II) tris-[molybdate(VI)], Na4Cu(MoO4)3, have been synthesized by solid-state reactions and characterized by single-crystal X-ray diffraction. This alluaudite structure-type is characterized by the presence of infinite layers of composition (Cu/Na)2Mo3O14 parallel to the (100) plane, which are linked by MoO4 tetra-hedra, forming a three-dimensional framework containing two types of hexa-gonal channels in which Na(+) cations reside. The Cu(2+) and Na(2+) cations are located at the same general site with occupancies of 0.5. All atoms are on general positions except for one Mo, two Na (site symmetry 2) and another Na (site symmetry -1) atom. One O atom is split into two separate positions with occupancies of 0.5. The title compound is isotypic with Na5Sc(MoO4)4 and Na3In2As3O12. The structure model is supported by bond-valence-sum (BVS) and charge-distribution CHARDI methods. β-Na4Cu(MoO4)3 is compared and discussed with the K4Cu(MoO4)3 and α-Na4Cu(MoO4)3 structures.

The oxidation of water-in-oil (W/O) emulsions was investigated, emphasizing the impact of compositional parameters. The emulsions had approximately the same average droplet size and did not show any physical destabilization throughout the study. In the absence of pro-oxidant ions in the aqueous phase, lipid oxidation of the W/O emulsions was moderate at 60°C and was in the same range as that measured for the neat oils. Oxidation was significantly promoted by iron encapsulation in the aqueous phase, even at 25°C. However, iron chelation reduced the oxidation rate. Emulsions based on triglycerides rich in polyunsaturated fatty acids were more prone to oxidation, whether the aqueous phase encapsulated iron or not. The emulsions were stabilized by high- and low-molecular weight surfactants. Increased relative fractions of high molecular weight components reduced the oxidation rate when iron was present., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

A new experimental device was developed, based on the measurement of the heat flux dissipated during chemical reactions. The technique was exploited for real time monitoring of lipid oxidation in plant oils. The thermopiles were used in adiabatic configuration in order to measure the entire heat flux and improve sensitivity. Measurements were operated with a resolution of few μW as required to follow low exothermic reactions like oxidation. The validation of the device was performed by correlating conjugated diene concentrations measured by spectrophotometry and the heat flux dissipated by oxidation reactions. Our experimental approach involved several plant oils analyzed in isothermal conditions. This novel technique provides a versatile, sensitive, solvent-free and yet low-cost method to assess lipid oxidation stability, particularly suitable for the fast screening of plant oils., (Copyright © 2015 Elsevier Ltd. All rights reserved.)

The title compound, nona-sodium chromium(III) hexa-kis[molybdate(VI)], Na9Cr(MoO4)6 was prepared by solid-state reactions. The basic structure units are isolated polyhedral clusters composed of a central CrO6 octa-hedron sharing vertices with six MoO4 tetrahedra to form an open framework in which the Na(+) cations are bound to the free vertices of the MoO4 tetra-hedra. The Cr(3+) cation has site symmetry of 32 (6a), one Na atom sits on a twofold axis (18e), and all other atoms are at general positions. The bond-valance-sum model confirms the expected values of ion charges. The title compound is isotypic with Na9Sc(MoO4)6 and Na9Fe(MoO4)6. It is compared and discussed with similar structures.

Trypanosoma evansi, the agent of surra, is a salivarian trypanosome, originating from Africa. Surra is a major disease in camels, equines and dogs, in which it can often be fatal in the absence of treatment. Animals exhibit nonspecific clinical signs (anaemia, loss of weight and abortion). In the present survey, a blood sample was collected in Sousse (Central Tunisia) from a dog that presented clinical signs of trypanosomiasis. Giemsa-stained blood smears and PCR were performed. ITS1 sequences from blood had 99.8 and 99.5% homology with published T. evansi sequences from cattle and camels, respectively. To our knowledge, this is the first report of T. evansi in a Tunisian dog., (© M.R. Rjeibi et al., published by EDP Sciences, 2015.)

Hyalomma scupense is a two-host tick infesting mainly cattle representing in North Africa the vector of tropical theileriosis (Theileria annulata infection), a major tick-borne disease affecting cattle. Any effective control programme of ticks requires a good knowledge of the biology of the target species. In the present study, three cattle farms in northeast Tunisia were surveyed during the activity seasons for adult and nymphs of Hyalomma scupense. Several indicators were studied, including chronological indicators, infestation prevalence, infestation intensity and feeding predilection sites of the ticks. The adult ticks were present from mid-June to late November. Nymphs were observed on animals from early September to late November. A large proportion of the ticks were attached in the posterior udder quarters: 41% and 64% of adult ticks and nymphs, respectively. The animals that were heavily infested by adult ticks were also heavily infested by nymphs. Moreover, 17% of adult ticks and 53% of nymphs were present on only 5% of cattle population. These data are important for the success of targeted acaricide application leading to a dramatic decrease of acaricide quantity needed for the treatment. When the preferential sites of attachment are known, the effectiveness of manual removal of ticks can be improved. The presence of highly infested animals is to be considered when any control programme is implemented, since these animals harbour a high proportion of the ticks., (© M. Gharbi et al., published by EDP Sciences, 2013.)

This study is a linear stability analysis of the flows induced by ultrasound acoustic waves (Eckart streaming) within an infinite horizontal fluid layer heated from below. We first investigate the dependence of the instability threshold on the normalized acoustic beam width H(b) for an isothermal fluid layer. The critical curve, given by the critical values of the acoustic streaming parameter, A(c), has a minimum for a beam width H(b) ≈ 0.32. This curve, which corresponds to the onset of oscillatory instabilities, compares well with that obtained for a two-dimensional cavity of large aspect ratio [A(x) = (length/height) = 10]. For a fluid layer heated from below subject to acoustic waves (the Rayleigh-Bénard-Eckart problem), the influence of the acoustic streaming parameter A on the stability threshold is investigated for various values of the beam width H(b) and different Prandtl numbers Pr. It is shown that, for not too small values of the Prandtl number (Pr > Pr(l)), the acoustic streaming delays the appearance of the instabilities in some range of the acoustic streaming parameter A. The critical curves display two behaviors. For small or moderate values of A, the critical Rayleigh number Ra(c) increases with A up to a maximum. Then, when A is further increased, Ra(c) undergoes a decrease and eventually goes to 0 at A = A(c), i.e., at the critical value of the isothermal case. Large beam widths and large Prandtl numbers give a better stabilizing effect. In contrast, for Prandtl numbers below the limiting value Pr(l) (which depends on H(b)), stabilization cannot be obtained. The instabilities in the Rayleigh-Bénard-Eckart problem are oscillatory and correspond to right- or left-traveling waves, depending on the parameter values. Finally, energy analyses of the instabilities at threshold have indicated that the change of the thresholds can be connected to the modifications induced by the streaming flow on the critical perturbations.

The linear stability of the flows induced in a fluid layer by buoyant convection (due to an applied horizontal temperature gradient) and by acoustic streaming (due to an applied horizontal ultrasound beam) is studied. The vertical profiles of the basic flows are determined analytically, and the eigenvalue problem resulting from the temporal stability analysis is solved by a spectral Tau Chebyshev method. Pure acoustic streaming flows are found to be sensitive to a shear instability developing in the plane of the flow (two-dimensional instability), and the thresholds for this oscillatory instability depend on the normalized width Hb of the ultrasound beam with a minimum for Hb=0.32 . Acoustic streaming also affects the stability of the buoyant convection. For a centered beam, effects of stabilization are obtained at small Prandtl number Pr for large beam widths Hb (two-dimensional shear instability) and for moderate Pr (three-dimensional oscillatory instability), but destabilization is also effective at small Pr for small beam widths Hb and at large Pr with a spectacular decrease of the thresholds of the three-dimensional steady instability. An adequate decentring of the ultrasound beam can enhance the stabilization. Insight into the stabilizing and destabilizing mechanisms is gained from the analysis of the fluctuating energy budget associated with the disturbances at threshold. The modifications affecting the two-dimensional shear instability thresholds are strongly connected to modifications of the velocity fluctuations when acoustic streaming is applied. Concerning the three-dimensional steady instability, the spectacular decrease of the thresholds is explained by the extension of the zone with inverse stratification in the lower half of the layer.

In 2002, an innovative neutron time-of-flight facility started operation at CERN: n_TOF. The main characteristics that make the new facility unique are the high instantaneous neutron flux, high resolution and wide energy range. Combined with state-of-the-art detectors and data acquisition system, these features have allowed to collect high accuracy neutron cross-section data on a variety of isotopes, many of which radioactive, of interest for Nuclear Astrophysics and for applications to advanced reactor technologies. A review of the most important results on capture and fission reactions obtained so far at n_TOF is presented, together with plans for new measurements related to nuclear industry., (Copyright 2010 Elsevier Ltd. All rights reserved.)

The flows induced by acoustic streaming in a three-dimensional side-heated parallelepiped cavity of length Ax representative of crystal growth configurations are numerically studied. Both the structure of the flows and their stability properties are determined. The flows have different symmetries, belonging to the group D4 for pure streaming, Z2xZ2 for pure buoyancy, and Z2 for the mixed case, but these symmetries are generally broken at the first bifurcation points. Bifurcation diagrams are obtained which show that the flows become oscillatory periodic at a Hopf bifurcation, either directly on the primary steady solution branch, or on a secondary branch which bifurcates from the primary branch at a steady bifurcation point. The critical Grashof numbers for these bifurcation points are calculated as a function of the cavity length Ax, the Prandtl number Pr and the acoustic streaming parameter A. The thresholds are generally found to increase when the acoustic streaming contribution is enhanced, which indicates a stabilizing effect induced by acoustic streaming and may explain the observed improvement of the crystal quality when ultrasound waves are applied during the growth process. Destabilization effects are, however, found in some parameter range.

Tumor suppressor gene inactivation as proposed by the Knudson model implies a sequential inactivation of two alleles of a gene. For example, the first allele is inactivated by a missense mutation, and the second one is inactivated by a deletion or insertion. The alteration of the p53 tumor suppressor gene is far to correspond only to this model. In the great majority of cancers, the mutated allele of p53 coexists with the normal allele. It is well known that the transcriptional activity is one of the most important functions of p53. The p53 protein is active as a tetramer (this complex activates the expression of targeted genes by binding to its consensus DNA sequence called the p53 response element). Experimental evidence shows that wild-type p53 interacts with mutant proteins to form heterotetramers. In association with wild-type proteins, mutant proteins drive the wild-type subunits into a mutant conformation. This association leads to a loss of trans-activating function. The capacity of mutant subunits to form heterotetramers with wild-type subunits and to commit them into a mutant conformation is called << dominant negative effect >>. Many p53 mutant proteins possess this dominant negative activity. Recently, several factors, which are implicated in the control of the dominant negative activity of p53 mutants, have been identified. The elucidation of these complex molecular functions, which are implicated in the dominant negative activity of the p53 mutated protein represents an important aspect in the comprehension of the biological mechanisms involved in carcinogenesis.

Many p53 mutant proteins possess a dominant-negative activity that is under the control of several factors, namely p53 mutations and the cell type. The goals of our study were to determine the following: (1) the dominant-negative effect of different p53 mutations in response to mitotic spindle inhibitors, and (2) if this dominant-negative activity is dependent on the nature of the stimulus. We therefore examined the cellular response of the near-diploid LoVo colon carcinoma cell line possessing two wild-type TP53 alleles and three other clones transfected with different TP53 mutants (p53-273H, p53-175H, and p53-143A) to treatments with different mitotic spindle inhibitors. Flow cytometric studies and analysis of retinoblastoma protein (pRb) dephosphorylation and 5-bromo-2'-deoxyuridine incorporation by immunocytochemistry revealed a tetraploid G1 arrest of the wild-type LoVo clone and the p53-273H mutant clone after exposure to mitotic spindle inhibitors, preventing tetraploid cells from entering into an additional S phase. On the other hand, the p53-175H and p53-143A mutant clones re-enter S phase with no apparent arrest. Therefore, our results confirm that p53 mutant dominant-negative activity and the tetraploid G1 arrest in response to mitotic spindle inhibitor treatment depend on the type of p53 mutation, involve p21 induction, and require pRb dephosphorylation. Moreover, when we compare our results with those obtained by other investigators after ionizing radiation exposure using the same cell lines, we identify the nature of the stimulus as a new factor that determines the dominant-negative effect of p53 mutants.