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

Text Categorization Can Enhance Domain-Agnostic Stopword Extraction

This paper investigates the role of text categorization in streamlining stopword extraction in natural language processing (NLP), specifically focusing on nine African languages alongside French. By leveraging the MasakhaNEWS, African Stopwords Project, and MasakhaPOS datasets, our findings emphasize that text categorization effectively identifies domain-agnostic stopwords with over 80% detection success rate for most examined languages. Nevertheless, linguistic variances result in lower detection rates for certain languages. Interestingly, we find that while over 40% of stopwords are common across news categories, less than 15% are unique to a single category. Uncommon stopwords add depth to text but their classification as stopwords depends on context. Therefore combining statistical and linguistic approaches creates comprehensive stopword lists, highlighting the value of our hybrid method. This research enhances NLP for African languages and underscores the importance of text categorization in stopword extraction.Comment: A Project Report for the Masakhane Research Communit

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

Lymphoma presenting as a peritonsillar abscess

SummaryIntroductionPeritonsillar abscess is generally seen as a complication of acute tonsillitis in young subjects. It may, however, in rare cases reveal a malignant tumor of the tonsil: most often squamous cell carcinoma or, more rarely, lymphoma. We report a rare case of tonsillar lymphoma revealed by a peritonsillar abscess.Case reportA 66-year-old woman, without history of recurrent tonsillitis, was admitted for right peritonsillar abscess with fever. She underwent incision-drainage of the abscess with 10 days’ intravenous antibiotics. As tonsillar hypertrophy persisted, tonsillectomy was performed; histology with immunohistochemical examination found tonsillar lymphoma.Discussion/ConclusionPossible tumoral etiology should be considered in any peritonsillar abscess occurring in an atypical subject. Acute-stage tonsillectomy enables early diagnosis

Enhancing hydrogen gas production in electrolysis cells with ammonium chloride and solar PV integration

In this study, the electrolysis of water by using ammonium chloride (NH4Cl) as an electrolyte was investigated for the production of hydrogen gas. The assembled electrochemical cell consists mainly of twenty-one stainless-steel electrodes and a direct current from a battery, ammonium chloride solution. In the electrolysis process, hydrogen and oxygen are developed at the same time and collected as a mixture to be used as a fuel. This study explores a technic regarding the matching of oxyhydrogen (HHO) electrolyzers with photovoltaic (PV) systems to make HHO gas. The primary objective of the present research is to enable the electrolyzer to operate independently of other energy origins, functioning as a complete unit powered solely by PV. Moreover, the impact of using PWM on cell operation was investigated. The experimental data was collected at various time intervals, NH4Cl concentrations. Additionally, the hydrogen unit consists of two cells with a shared positive pole fixed between them. Some undesirable anodic reaction affects the efficiency of hydrogen gas production because of the corrosion of anode to ferrous hydroxide (Fe(OH)2). Polyphosphate Inhibitor was used to minimize the corrosion reaction of anode and keep the efficiency of hydrogen gas flow. The optimal concentration of 3 M for ammonium chloride was identified, balancing a gas flow rate of 772 ml/min with minimal anode corrosion. With PWM, conversion efficiency ranges between 93 % and 96 %. Therefore, PWM increased conversion efficiency by approximately 5 %, leading to a corresponding increase in hydrogen gas production