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Minigene Analysis of the c.743 + 40A >G Intronic Variant in the <i>CFTR</i>Gene

Health 2014年第12期6卷 1352-1360页

作者： Ayman El-Seedy Raed Farhat Marie-Claude Pasquet alain kitzis Véronique Ladeveze Génétique Moléculaire de Maladies Rares P&ocirc le Biologie Santé Université de Poitiers Poitiers France

Background: Since the identification of the cystic fibrosis transmembrane regulator (CFTR) gene in 1989, many polymorphisms have been identified in cystic fibrosis (CF) or CFTR-related disorders (CFTR-RDs) patients and still remain to be characterized at the molecular level. These polymorphisms are difficult to classify as pathogenic or non-disease causing because the polymorphisms are either located in the coding region, but are synonymous, or are found in the intronic regions. Here we investigated the potential impact of the c.743 + 40A > G polymorphism within CFTR intron 6 on the alternative splicing. Indeed, this variant has been observed frequently in our examined patients. Moreover, a family carrying this variant exhibited CFTR-RD phenotype. Methods: By denaturing high pressure liquid phase chromatography (DHPLC) and sequencing, thirty of 293 subjects French origin carried the c.743 + 40A > G variant. Of these, 16 patients were affected by CF or CFTR-RD. Wild-type sequences and mutant CFTR intron 6 and its boundaries were inserted into the pTBNdeI hybride minigene and expressed in three different cell lines. After RT-PCR analysis of mRNA using specific primers, sequences of the minigene transcripts were obtained. Results: No aberrant splicing was detected with minigene carrying c.743 + 40A > G variant in all transfected cell lines. However, an alternative splicing in the positive control was detected with a minigene carrying the c.1392G > T + 1G > T mutation: 5 nucleotides were deleted from mRNA sequences, indicating that used cell lines are appropriate for studying the splicing. Conclusion: Transient transfections of a minigene containing the c.743 + 40A > G polymorphism showed no splicing errors, and thus this intronic alteration was finally classified as non-pathogenic. As it is always associated with c.2562T > G and c.4389G > A, or TG12-7T poly-morphisms, further experiments are needed to determine the role of these complex alleles in disease pathogenesis.

关键词： Cystic Fibrosis Polymorphism Complex Allele Hybrid Minigene Splicing

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Stepping up after spinal cord injury:negotiating an obstacle during walking

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Neural Regeneration Research 2025年第7期20卷 1919-1929页

作者： alain Frigon Charly G.Lecomte Department of Pharmacology-Physiology Faculty of Medicine and Health SciencesUniversitéde SherbrookeCentre de recherche du Centre Hospitalier Universitaire de SherbrookeSherbrookeQCCanada

Every day walking consists of frequent voluntary modifications in the gait pattern to negotiate *** spinal cord injury,stepping over an obstacle becomes *** over an obstacle requires sensorimotor transformations in several structures of the brain,including the parietal cortex,premotor cortex,and motor *** information and planning are transformed into motor commands,which are sent from the motor cortex to spinal neuronal circuits to alter limb trajectory,coordinate the limbs,and maintain *** spinal cord injury,bidirectional communication between the brain and spinal cord is disrupted and animals,including humans,fail to voluntarily modify limb trajectory to step over an ***,in this review,we discuss the neuromechanical control of stepping over an obstacle,why it fails after spinal cord injury,and how it recovers to a certain extent.

关键词： biomechanics locomotion neurophysiology obstacle negotiation spinal cord injury

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Environmental Impacts of Uncontrolled Waste Collection Points in the Urban Municipality of Coyah, Guinea, West Africa

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Journal of Geoscience and Environment Protection 2025年第1期13卷 302-315页

作者： Marie Rose Bangoura alain Gbilimou Lucien Solie Laboratoire dEtude et de Recherche Urbaine (LERU) Institut Suprieur architecture et dUrbanisme Conakry Rpublique de Guine Laboratoire de Recherche Applique en Gosciences et Environnement (LRA) Institut Suprieur des Mines et Gologie de Bok (ISMGB) Bok Rpublique de Guine Centre dEtude et de Recherche en Environnement (CERE) de lUGANC Conakry Rpublique de Guine

This article is descriptive research that takes into account the growing concerns of the authorities of the municipality of Coyah regarding waste management, as well as our desire to contribute to improving the living conditions of the inhabitants of this region. The main objective is to assess the environmental impacts of uncontrolled waste collection points on the receiving environments, by characterizing and evaluating them. This will make it possible to propose appropriate measures for rational and sustainable management of the environment in Coyah. The study addresses the characterization and assessment of pollution of receiving environments, including water, soil and air. Environmental analyses were carried out according to standard methods of EPA (1997), adapted to the equipment of the companies Hach, Millipore and Verlan. During the environmental impact assessment, we identified the sources of pollution and assessed the potential impacts. This research highlighted the pollution of receiving environments by waste located in the vicinity of collection points, while considering solutions for efficient and sustainable waste management.

关键词： Environmental Impacts Waste Sustainable Management Receiving Environment Collection Points

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Exercise-Induced Bronchospasm, Prevalence and Associated Factors in University Students in STAPS

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Journal of Biosciences and Medicines 2025年第1期13卷 92-101页

作者： Paul Roger Mabounda Kounga alain Boussana Florent Nsompi Hue Olivier Department of Physiology Higher Institute of Physical and Sports Education (ISEPS) Marien Ngouabi University Brazzaville Republic of the Congo Laboratory of Education Health Expertise and Motor Performance (ESEPM) Brazzaville Republic of the Congo Molecular Biology Laboratory Shanghai Sports University Shanghai China Unit of Sciences and Technics of Physical Education and Sport University of Montpellier Montpellier France Laboratoy ACTES Antilles Guyane University Cedex France Laboratory Respiratory Hormonal and Gerontological Sports Explorations Unit National Institute of Youth Physical Education and Sport (INJEPS) University of Abomey-Calavi (UAC) Abomey-Calavi Benin

Background: There are links between physical exercise, fine particles and the prevalence of exercise-induced bronchospasm (EIB). Objective: The aim of this study was to assess the prevalence of exercise-induced bronchospasm in students of sciences and techniques of physical activities and sports (STAPS) exercising in a hot, humid and relatively polluted environment. Methods: Twenty-two first-year undergraduate students, including 11 in PE and 11 in SPORT, aged 21.64 ± 1.80 years, participated in a football match. Resting spirometry was performed before and 5 minutes after the match. During the match, particulate matter (PM2.5 and PM10) was measured every 10 minutes around the football pitch. Ambient temperature and relative humidity were recorded. The diagnosis of EIB was based on a decrease in FEV1 of at least 10% after the match. If there was a decrease, the participant was considered susceptible to EIB. Results: Five subjects were positive for exercise-induced bronchospasm, a percentage of 22%. Ambient temperature and relative humidity were 34.22˚C ± 1.38˚C and 52.2% ± 4.97%, respectively. Concentrations of PM2.5 and PM10 were between 53.3 - 115.5 µg/m3 and 75.5 - 168.2 µg/m3, respectively, exceeding WHO limits. Conclusion: These results show a high incidence of exercise-induced bronchospasm in students without a history of asthma but exercising in a hot, humid and environment polluted by fine particles.

关键词： Bronchoconstriction Air Pollution Sports Health Respiratory Asthma Athlete

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Influence of Magnetic Field and Temperature on the Transient Density and Voltage in a Radial Junction Solar Cell in Dynamic Regime under Pulsed Multispectral Illumination

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Open Journal of Applied Sciences 2025年第1期15卷 42-52页

作者： Moussa Ouedraogo Nazé Yacouba Traore alain Diasso Raguilignaba Sam François Zougmore Laboratoire de Matriaux dHliophysique et Environnement (LaMHE) Dpartement de Physique UFR/ST Universit Nazi Boni Bobo Dioulasso Burkina Faso Laboratoire de Matriaux et Environnement Dpartement de Physique UFR/SEA Universit Joseph Ki-Zerbo Ouagadougou Burkina Faso

This study examines the influence of magnetic field and temperature on the transient voltage of a polycrystalline silicon radial junction solar cell in a dynamic regime under multispectral illumination. Radial junction solar cells represent a major advancement in photovoltaic technologies, as they optimize light absorption and charge collection efficiency. The focus is on the impact of the magnetic field and temperature on the decay of transient voltage, which provides crucial information on recombination processes and the lifetime of minority carriers. The results reveal that the magnetic field tends to increase the transient voltage by directly affecting the transient electron density. Indeed, for B > 7 × 10−5 T, the magnetic field prolongs the relaxation time by increasing the transient voltage amplitude. Additionally, rising temperatures accelerate (ranging from 290 K to 450 K) recombination processes, thereby reducing the transient voltage, although this effect is moderated by the presence of a magnetic field. The study highlights the complex interaction between magnetic field and temperature, with significant impacts on the transient behaviour.

关键词： Electrons Radial Junction Transient Voltage Magnetic Field Operating Temperature

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Seroprevalence of Viral Hepatitis B and C and HIV Co-Infection among Voluntary Blood Donors in the Northern Region of Burkina Faso

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Open Journal of Gastroenterology 2025年第1期15卷 13-20页

作者： Ouattara Zanga Damien Kafando Amadou Koura Mâli Zoungrana Stève Léonce Dah Elias Samné Souleymane Bougouma alain Department of Gastroenterology Ouahigouya Regional Teaching Hospital Ouahigouya Burkina Faso Ouahigouya Blood Sampling and Distribution Depot (BSDD) Ouahigouya Burkina Faso Department of Gastroenterology Souro Sanou Teaching Hospital Bobo-Dioulasso Burkina Faso Department of Public Health Ouahigouya Regional Teaching Hospital Ouahigouya Burkina Faso Department of Gastroenterology Fada Regional Hospital Fada Burkina Faso Department of Gastroenterology Yalgado Ouedraogo Teaching Hospital Ouagadougou Burkina Faso

The aim of this study was to assess the seroprevalence of viral hepatitis B and C and co-infection with HIV among volunteer blood donors at the blood sampling and distribution depot (BSDD) in Ouahigouya. Patients and methods: Our study population consisted of all volunteer blood donors who had donated during a 2-year period from 1 January 2019 to 31 December 2020. Samples were taken from patients with no contraindications and serological tests were performed using ELISA tests. HBsAg, HCV-Ac and HIV serology were tested. All samples reactive for HIV, HBV and HCV were retested for confirmation using a second enzyme-linked immunosorbent assay. A result was considered positive if both the first and second tests were positive. Results: In two years, the Ouahigouya BSDD recorded 9726 donations, including 7983 new donors and 1743 former donors. The average age of donors was 25.59 years, with a sex ratio of 3.4. The seroprevalence of HBV, HCV and HIV was 7.31%, 3.10% and 2.12% respectively. HBV-HCV co-infection was found in 0.32% of cases, HIV-HBV, HIV-HCV, and HIV-HBV-HCV co-infection were found in 0.25%, 0.09% and 0.04% respectively. Conclusion: The seroprevalence of viral hepatitis B and C remains high among volunteer blood donors in Ouahigouya, although a decline in seroprevalence appears to be on the horizon.

关键词： Viral Hepatitis B and C HIV Co-Infection Volunteer Blood Donors

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Validation of Monthly Data of Temperature and Precipitation over West Africa from Simulations of CORDEX-CORE Ensemble

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Journal of Geoscience and Environment Protection 2025年第1期13卷 422-443页

作者： Alphonse Um Um Cyrille Meukaleuni Eric Efon Brice Baudouin Sandjeu Wandjie Rinelle Djiondo Ngongang alain Tchio Tamoffo Carine Betant Andre Lenouo Laboratory of Fundamental Physics Department of Physics Faculty of Science University of Douala Douala Cameroon The University Institute of the Coast Douala Cameroun Department of Physics Faculty of Science University of Bamenda Cameroon Climate Service Center Germany (GERICS) Helmholtz-Zentrum Hereon Hamburg Germany

We analysed nine simulations from dynamic downscaling to a horizontal resolution of approximately 25 km of three general circulation models (GCMs). These GCMs use three regional climate models (RCMs) that participated in the coordinated downscaling experiment (CORDEX-CORE). These simulations were compared to three datasets of reanalysis. The ERA5 for temperature at 2 metres and for precipitation, Climate Hazards Center InfraRed Precipitation with Stations (CHIRPS) and African Rainfall Climatology from the Famine Early Warning System (FEWS-ARC) were used. To give an overview of these nine model experiments, we presented and compared the results of the latter with the reanalysis taken into account for the period 1983 - 2005. The results indicated that the nine models correctly reproduced the temperature and rainfall in West Africa during the historical period. In the Guinean coast region, REMO-NorESM1 and RegCM4-MPI-MR models well simulated precipitation and temperature during the historical period. In the Savannah region, RegCM4-NorESM1, CCLM5-MPI-LR, REMO-NorESM1, CCLM5-NorESM1 and CCLM5-HadGEM2 model gave best result. In the Sahel region, the RegCM4-HadGEM2 model gave a good correlation. Using the Taylor diagram in the historical period, all CORDEX-CORE RCMs had a strong relationship with temperature.

关键词： CORDEX-CORE Regional Climate Model Evaluation ERA5 CHIRPS FEWS-ARC West Africa

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Pediatric Trans Olecranon Fracture-Dislocation of the Elbow Managed Nonoperatively: A Case Report and Review of Literature

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Open Journal of Orthopedics 2025年第1期15卷 41-45页

作者： Khalifa Ababacar Faye Alioune Badara Gueye Blaise Kega Dieye Ibou Mouhamadou Moustapha Niane Yacine Sock Charles alain Valerie Kinkpe Order of Maltas Hospital Center of Dakar Dakar Senegal FMPO Cheikh Anta DIOP University of Dakar Dakar Senegal Thies Regional Hospital Thies Senegal UFR Sant Iba Der Thiam University of Thies Thies Senegal

Elbow dislocations are rare injuries in children due to the resistance of the capsuloligamentous structures. Anterior dislocation is very rare and its combination with an olecranon fracture is unusual. The authors rep... 详细信息

关键词： Elbow Anterior Dislocation Children

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Prognostic Factors for Operated Traumatic Brain Injury at the Yaounde Emergency Center

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Open Journal of Modern Neurosurgery 2025年第1期15卷 88-95页

作者： Ernestine Renée Bikono Atangana alain Jibia Serge Rawlings Ngouatna Reid Achu Darius Kenzo Temgoua Herve Mfouapon Ewane Casimir Fankem Vincent de Paul Djientcheu Faculty of Medicine and Biomedical Sciences University of Yaounde I Yaounde Cameroon Neurosurgery Department Yaounde Central Hospital Yaounde Cameroon Faculty of Medicine and Biomedical Sciences University of Garoua Garoua Cameroon Yaounde Emergency Center Yaounde Cameroon

Introduction: Head injuries constitute a public health problem in Cameroon and everywhere else in the world. They represent 23% of admissions to the Yaounde emergency center (CURY), which is a center exclusively dedicated, since 2014, to emergency care in Yaounde. In the management of trauma brain injuries at CURY, several are operated on. However, to date, no evaluation of these operated patients has yet been made. Goals: The objective of this study was to highlight the prognostic factors in patients operated for TBI at CURY. Methodology: We conducted a descriptive study whose data collection was done retrospectively over 2 years (01 January 2021 to 31 December 2022) at CURY. Data was collected from the registers of operative reports. Results: We enrolled 105 medical reports of patients who were victims of TBI operated on. The male gender predominated with a sex ratio of 3/1. The average age of the patients was 37.5 ± 18.83 years. Public road accidents were the leading cause of TBI in 75.2% of cases. The means of transport of the victims were mostly non-medical 97.1%. 45.7% of patients were admitted in less than 6 hours following injury. The initial clinical evaluation found 45.8% of patients with a Glasgow Coma Score (GCS) between [14, 15], and 13.2% of patients had a GCS 8. The indications for surgery were extradural hematoma (30%), followed by acute subdural hematoma (24%). The major complication was postoperative infection (25%). The mortality rate of the series was 7.9%. Poor prognostic factors were the depth of the coma on admission, advanced age and postoperative complications. Conclusion: The results of this study suggest that most patients operated on for TBI at CURY had a favorable outcome. The poor prognostic factors were the depth of the coma on admission, advanced age, postoperative complications and comorbidities.

关键词： Operated TBI Prognosis Yaounde Emergency Center

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Some Remarks on Korn Inequalities

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Chinese Annals of Mathematics,Series B 2018年第2期39卷 335-344页

作者： alain damlamian Dedicated to Philippe G. Ciarlet on the occasion of his 80th birthda

A recent joint paper with Doina Cioranescu and Julia Orlik was concerned with the homogenization of a linearized elasticity problem with inclusions and cracks(see[Cioranescu, D., Damlamian, A. and Orlik, J., Homogenization via unfolding in periodic elasticity with contact on closed and open cracks, Asymptotic Analysis, 82, 2013, 201–232]). It required uniform estimates with respect to the homogenization parameter. A Korn inequality was used which involves unilateral terms on the boundaries where a nopenetration condition is imposed. In this paper, the author presents a general method to obtain many diverse Korn inequalities including the unilateral inequalities used in [Cioranescu, D., Damlamian, A. and Orlik, J., Homogenization via unfolding in periodic elasticity with contact on closed and open cracks, Asymptotic Analysis, 82, 2013, 201–232]. A preliminary version was presented in [Damlamian, A., Some unilateral Korn inequalities with application to a contact problem with inclusions, C. R. Acad. Sci. Paris, Ser. I,350, 2012, 861–865].

关键词： Korn domains Korn-Wirtinger domains Unilateral Korn inequality

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