Preliminary study of haplotypes linked to the rare cystic fibrosis E1104X mutation

The analysis of some extra- and intragenic markers within or closely linked to the cystic fibrosis transmembrane regulator (CFTR) gene is useful as a molecular method in clinical linkage analysis. Indeed, knowing that the molecular basis of cystic fibrosis (CF) is highly heterogeneous in our population, the study of haplotype association with normal and CF chromosomes could be very helpful in cases where one or both mutations remain unidentified. In this study, we analysed with PCR-RFLP and capillary electrophoresis some extra (pJ3.11, KM19 and XV2C) and intragenic (IVS8CA, IVS17bTA and IVS17bCA) polymorphic markers in 50 normal and 10 Tunisian patients carrying the rare E1104X mutation in order to determine the haplotype associated with this mutation. For the extragenic markers, 8 haplotypes were identified. The most frequent of them are the 221 and 112 accounting for 80% of total haplotypes. For the intragenic markers, five haplotypes were present on the E1104X chromosomes. One of them 16-31-13 accounted for 50%. To our knowledge, this is the first work to be interested to the haplotypes linked to the E1104X mutation. This preliminary study of haplotypes could be a helpful method to determine the molecular lesions responsible of this pathology

Localisation nasosinusienne des tumeurs plasmocytaires

Introduction : Les tumeurs plasmocytaires représentent 3 à 4% des tumeurs des cavités naso-sinusiennes. Elles nécessitent un bilan diagnostique spécifique et une prise en charge adéquate. Nous nous proposons d’étudier les particularités diagnostiques et thérapeutiques des plasmocytomes naso-sinusiens. Matériel et méthodes : Notre étude est rétrospective comportant 5 cas de plasmocytomes naso-sinusiens confirmés histologiquement.Résultats : Il s’agit de 3 hommes et 2 femmes âgés de 32 à 77 ans. Le plasmocytome avait une localisation sphénoïdale dans un cas, nasale dans 2 cas, ethmoïdo-nasale dans un cas et naso-maxillaire dans le cas restant. Il s’agissait d’un myélome multiple dans un cas. Trois patients ont eu une radiothérapie. Celle-ci était associée à une chimiothérapie dans le cas du myélome multiple et à une exérèse chirurgicale dans les 2 autres cas La chirurgie a été seule dans un cas. La chimiothérapie exclusive a été proposée dans un cas de plasmocytome localement avancé mais le patient a été perdu de vue. Pour les patients suivis, une seule récidive a été notée à 18 mois.Conclusion : La présentation clinique des plasmocytomes nasosinusiens est aspécifique. Le diagnostic est confirmé par l’histologie. Le pronostic est dominé par la présence ou non d’un myélome multiple et par la taille tumorale. Un suivi prolongé est nécessaire.Mots clés : plasmocytome extramédullaire ; cavités naso-sinusiennes ; radiothérapie ; chirurgie.Introduction: Plasmocytomas represent 3-4% of tumors naso-sinus cavities. Their diagnosis requires a specific investigations and adequate management. We report 5 cases of naso-sinus plasmacytoma and we propose to study their diagnostic and therapeutic characteristics.Materials and methods: Our study is retrospective including 5 cases of naso-sinus plasmacytoma confirmed histologically.Results: There were 3 men and 2 women aged 32 to 77 years. The plasmacytoma had a sphenoidal location in one case, nasal in 2 cases, ethmoid-nasal in one case and naso-maxillary in the remaining case. Multiple myeloma was found in one case. Three patients underwent radiotherapy. This was associated with chemotherapy in multiple myeloma case and surgical resection in 2 cases. Surgery alone was performed in one case. Exclusive chemotherapy was proposed in a case of plasmacytoma locally advanced but the patient was lost sight of. For followed patients, only one recurrence was noted at 18 months.Conclusion: The clinical presentation of sinonasal plasmacytomas is aspecific. The diagnosis is confirmed by histology. The prognosis is dominated by the presence or absence of multiple myeloma and tumor size. Prolonged follow-up is necessary.Keywords : extramedullary plasmacytoma, naso-sinus cavities, radiotherapy ; surgery

Water hammer with column separation: A historical review

Column separation refers to the breaking of liquid columns in fully filled pipelines. This may occur in a water-hammer event when the pressure in a pipeline drops to the vapor pressure at specific locations such as closed ends, high points or knees (changes in pipe slope). The liquid columns are separated by a vapor cavity that grows and diminishes according to the dynamics of the system. The collision of two liquid columns, or of one liquid column with a closed end, may cause a large and nearly instantaneous rise in pressure. This pressure rise travels through the entire pipeline and forms a severe load for hydraulic machinery, individual pipes and supporting structures. The situation is even worse: in one water-hammer event many repetitions of cavity formation and collapse may occur. This paper reviews water hammer with column separation from the discovery of the phenomenon in the late 19th century, the recognition of its danger in the 1930s, the development of numerical methods in the 1960s and 1970s, to the standard models used in commercial software packages in the late 20th century. A comprehensive survey of laboratory tests and field measurements is given. The review focuses on transient vaporous cavitation. Gaseous cavitation and steam condensation are beyond the scope of the paper. © 2005 Elsevier Ltd. All rights reserved.A. Bergant, A.R. Simpson, and A.S. Tijsselinghttp://www.elsevier.com/wps/find/journaldescription.cws_home/622877/description#descriptio

Establishment of a coastal fish in the Azores : recent colonisation or suddenexpansion of an ancient relict population?

The processes and time scales associated with ocean-wide changes in the distribution of marinespecies have intrigued biologists since Darwin’s earliest insights into biogeography. The Azores, amid-Atlantic volcanic archipelago located more than 1000 km off the European continental shelf,offers ideal opportunities to investigate phylogeographic colonization scenarios. The benthopelagicsparid fish known as the common two-banded seabream (Diplodus vulgaris) is now relativelycommon along the coastline of the Azores archipelago, but was virtually absent prior to the 1990s.We employed a multiple genetic marker approach to test whether the successful establishment of theAzorean population derives from a recent colonization from western continental/island populationsor from the demographic explosion of an ancient relict population.Results from nuclear and mtDNA sequences show that all Atlantic and Mediterranean populationsbelong to the same phylogroup, though microsatellite data indicate significant genetic divergencebetween the Azorean sample and all other locations, as well as among Macaronesian, westernIberian and Mediterranean regions. The results from Approximate Bayesian Computation indicatethat D. vulgaris has likely inhabited the Azores for approximately 40 (95% C.I.: 5.5─83.6) to 52(95% C.I.; 6.32─89.0) generations, corresponding to roughly 80-150 years, which suggests nearcontemporary colonisation, followed by a more recent demographic expansion which could havebeen facilitated by changing climate conditions. Moreover, the lack of previous records of thisspecies over the past century, together with the absence of lineage separation and the presence ofrelatively few private alleles, do not exclude the possibility of an even more recent colonisationevent

A separation principle for Takagi-Sugeno control fuzzy systems

An important application of state estimation is feedback control: an estimate of the state (typically the mean estimate) is used as input to a state-feedback controller. This scheme is known as observer based control, and it is a common way of designing an output-feedback controller (i. e. a controller that does not have access to perfect state measurements). In this paper, under the fact that both the estimator dynamics and the state feedback dynamics are stable we propose a separation principle for Takagi-Sugeno fuzzy control systems with Lipschitz nonlinearities. The considered nonlinearities are Lipschitz or meets an integrability condition which have no influence on the LMI to prove the stability of the associated closed-loop system. Furthermore, we give an example to ullistrate the applicability of the main result

New Method Based on Direct Analysis in Real-Time Coupled with Time-of-Flight Mass Spectrometry (DART-ToF-MS) for Investigation of the Miscibility of Polymer Blends

The miscibility of a series of binary blends such as polystyrene/poly(methyl methacrylate) (PS/PMMA), polystyrene/poly(vinyl chloride)(PS/PVC), poly(vinyl chloride)/poly(polymethyl methacrylate)(PVC/PMMA) and poly(ethylene-co-vinyl alcohol)/poly(lactide-co-glycolide acid) PEVAL/PLGA with equal ratios and poly(ethylene oxide)/poly(hydroxyl propyl methyl cellulose) (PEO/PHPMC) containing 30 and 70 wt% PEO, which were randomly chosen among the widely systems reported in the literature, was investigated by a new method based on a direct analysis in real-time coupled with time-of-flight mass spectrometry (DART-ToF-MS). To reach this goal these pairs of polymers and copolymers were prepared by solvent casting method. As a first step, the DSC technique was undertaken in this work to highlight the published results on the miscibility of these binary systems. The thermogravimetry analysis (TGA) was used to define the optimum decomposition temperature of these blends programmed for the study of miscibility using the DART-ToF-MS technique. The results obtained by this method based on the comparison of the nature of the fragments resulting from the isothermal decomposition of the blend with those of their pure components have been very effective in demonstrating the character of miscibility of these systems. Indeed, it was found that the PS/PMMA-50 and PS/PVC-50 blends were immiscible, PVC/PMMA-50 and PEVAL/PLGA-50 miscible, and the PEO/PHMC partially miscible. This method, which is rapid and uses a very small amount of sample (1–2 mg) can be extended in its application to other blends whose other methods used have shown their limits due to the intrinsic properties of the polymers involved

Improving the performance of trays solar still by using sand beds and reflectors

In order to maintain access to freshwater resources in water-stressed regions, it is important to improve the performance of solar-powered desalination systems with lower cost units like solar stills (SS). However, the SS produces low productivity especially through the rainy or cloudy days due to the indirect diffused beams. Therefore, the main aim of this study is to increase the yield from brackish/seawater via a solar still operating with renewable energy sources. The water depth was lowered, and thermal storage materials with different sand beds trays solar still (TSS) are used to augment the amount of yield from a SS. The effects of sandy bed height, and sand type (black and yellow) on the performance of TSS were investigated. Also, the effect of internal reflectors on the sand TSS performance was investigated. Experimental results revealed that the sandy layer (storage beds) improves the TSS production. The maximum increase in accumulated production of sandy TSS with internal reflectors was reached at sand beds height of 1 cm and black sand. In this case, the freshwater was heightened by 105 % over CSS

Catalytic properties of a highly thermoactive polygalacturonase from the mesophilic fungus Penicillium occitanis and use in juice clarification

A new polygalacturonase (PG1) is purified to homogeneity from the hyper-pectinolytic mutant (CT1) of Penicillium occitanis by using two chromatographic steps. The purified PGI exhibited a very high specific activity toward PGA, namely 57533.2 U/mg of protein and a high optimal temperature, 70 degrees C. In our knowledge, it is one of the highest temperature optima described till now, even among those reported for thermophilic fungi; recalling here that our fungus is a mesophilic one. The N-terminal sequence was almost identical to that deduced from the previously cloned pga1 gene. The mass spectrometry analysis of PG1 further confirmed its belonging to the pga1 gene. As the peptide sequence of the pga1 bears the signature of endopolygalacturonases, we brought in this work evidences that it belongs to enzymes that hydrolyze pectin by endo-fashion. Indeed, during the hydrolysis of polygalacturonic acid by PG1, the viscosity drops very quickly while reducing sugars were released very slowly. In addition, thin layer chromatography showed that mainly oligosaccharides were released from PGA, namely tetra and trigalacturonic acids. The purified PGI was able to enhance the clarification of citrus juice. Considering all these properties, this novel fungal would be an interesting biocatalyst for future application in fruit and vegetable transformation. (C) 2016 Elsevier B.V. All rights reserved