Search results for: Nour El Houda Arabi

Authors: Dimitra V. Peristeri, Hussameldin M. Nour, Amiya Ahsan, Sameh Abogabal, Krishna K. Singh, Muhammad Shafique Sajid

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Introduction: The use of optimal skin antiseptic agents for the prevention of surgical site infection (SSI) is of critical importance, especially during abdominal surgical procedures. Alcohol-based chlorhexidine gluconate (CHG) and aqueous-based povidone-iodine (PVI) are the two most common skin antiseptics used nowadays. The objective of this article is to evaluate the effectiveness of alcohol-based CHG versus aqueous-based PVI used for skin preparation before abdominal surgery to reduce SSIs. Methods: Standard medical databases such as MEDLINE, Embase, Pubmed, and Cochrane Library were searched to find randomised, controlled trials (RCTs) comparing alcohol-based CHG skin preparation versus aqueous-based PVI in patients undergoing abdominal surgery. The combined outcomes of SSIs were calculated using an odds ratio (OR) with 95% confidence intervals (95% CI). All data were analysed using Review Manager (RevMan) Software 5.4, and the meta-analysis was performed with a random effect model analysis. Results: A total of 11 studies, all RCTs, were included (n= 12072 participants), recruiting adult patients undergoing abdominal surgery. In the random effect model analysis, the use of alcohol-based CHG in patients undergoing abdominal surgery was associated with a reduced risk of SSI compared to aqueous-based PVI (OR: 0.84; 95% CI [0.74, 0.96], z= 2.61, p= 0.009). Conclusion: Alcohol-based CHG may be more effective for preventing the risk of SSI compared to aqueous-based PVI agents in abdominal surgery. The conclusion of this meta-analysis may add a guiding value to reinforce current clinical practice guidelines.

Keywords: skin preparation, surgical site infection, chlorhexidine, skin antiseptics

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Authors: Nour Elhouda Abed, Bedj Mimi, Wahid Slimani, Mourad Atif, Abdelhakim Ouzzane, Hocine Irekti, Abdelkader Bekki

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The most frequent system of cereal production in Algeria is fallow-wheat. This is an extensive system that meets only the half needs some cereals and fodder demand. Resorption of fallow has become a strategic necessity to ensure food security in response to the instability of supply and the persistence of higher food prices on the world market. Despite several attempts to replace the fallow by crop cultures, choosing the best crop remains. Today, the agronomic and economic interests of legumes are demonstrated. However, their crop culture remains marginalized because of the weakness and instability of their performance. In the context of improving legumes and cereals crops as well as fallow resorption, we undertook to test, in the field, the effect of rhizobial inoculation of Phaseolus vulgaris in association with Zea Mays. We firstly studied the genetic diversity of rhizobial strains that nodulate P.vulgaris isolated from fifteen (15) different regions. ARDRA had shown 18 different genetic profiles. Symbiotic characterization highlighted a strain that highly significantly improved the fresh and dry weight of the host plant, in comparison to the negative control (un-inoculated) and the positive control (inoculated with the reference strain CIAT 899). In the field, the selected strain increased significantly the growth and yield of P.vulgaris and Zea Mays comparing to the non-inoculated control. However, the mix inoculation (selected strain+ Ciat 899) had not given the best parameters showing, thus, no synergy between the strains. These results indicate the replacing fallow by a crop legume in intercropping with cereals crops.

Keywords: fallow, intercropping, inoculation, legumes-cereals

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Authors: Hachaichi Mohamed Nour El-Islem, Baouni Tahar

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Environmental sustainability rather than a trans-disciplinary and a scientific issue, is the main problem that characterizes all modern cities nowadays. In developing countries, this concern is expressed in a plethora of critical urban ills: traffic congestion, air pollution, noise, urban decay, increase in energy consumption and CO₂ emissions which blemish cities’ landscape and might threaten citizens’ health and welfare. As in the same manner as developing world cities, the rapid growth of Algiers’ human population and increasing in city scale phenomena lead eventually to increase in daily trips, energy consumption and CO₂ emissions. In addition, the lack of proper and sustainable planning of the city’s infrastructure is one of the most relevant issues from which Algiers suffers. The aim of this contribution is to estimate the carbon deficit of the City of Algiers, Algeria, using the Ecological Footprint Model (carbon footprint). In order to achieve this goal, the amount of CO₂ from fuel combustion has been calculated and aggregated into five sectors (agriculture, industry, residential, tertiary and transportation); as well, Algiers’ biocapacity (CO₂ uptake land) has been calculated to determine the ecological overshoot. This study shows that Algiers’ transport system is not sustainable and is generating more than 50% of Algiers total carbon footprint which cannot be sequestered by the local forest land. The aim of this research is to show that the Carbon Footprint Assessment might be a relevant indicator to design sustainable strategies/policies striving to reduce CO₂ by setting in motion the energy consumption in the transportation sector and reducing the use of fossil fuels as the main energy input.

Keywords: biocapacity, carbon footprint, ecological footprint assessment, energy consumption

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Authors: Nour S. Abdelrahman, Seunghyun Hong, Hassan A. Arafat, Daniel Choi, Faisal Al Marzooqi

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Abstract—The advancement of lithium extraction methods from water sources, particularly saltwater brine, is gaining prominence in the lithium recovery industry due to its cost-effectiveness. Traditional techniques like recrystallization, chemical precipitation, and solvent extraction for metal recovery from seawater or brine are energy-intensive and exhibit low efficiency. Moreover, the extensive use of organic solvents poses environmental concerns. As a result, there's a growing demand for environmentally friendly lithium recovery methods. Membrane-based separation technology has emerged as a promising alternative, offering high energy efficiency and ease of continuous operation. In our study, we explored the potential of lithium-selective sieve channels constructed from layers of 2D graphene oxide and MXene (transition metal carbides and nitrides), integrated with surface – SO₃₋ groups. The arrangement of these 2D sheets creates interplanar spacing ranging from 0.3 to 0.8 nm, which forms a barrier against multivalent ions while facilitating lithium-ion movement through nano capillaries. The introduction of the sulfonate group provides an effective pathway for Li⁺ ions, with a calculated binding energy of Li⁺ – SO³⁻ at – 0.77 eV, the lowest among monovalent species. These modified membranes demonstrated remarkably rapid transport of Li⁺ ions, efficiently distinguishing them from other monovalent and divalent species. This selectivity is achieved through a combination of size exclusion and varying binding affinities. The graphene oxide channels in these membranes showed exceptional inter-cation selectivity, with a Li⁺/Mg²⁺ selectivity ratio exceeding 104, surpassing commercial membranes. Additionally, these membranes achieved over 94% rejection of MgCl₂.

Keywords: ion permeation, lithium extraction, membrane-based separation, nanotechnology

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Authors: Nour Mohamad Fayad

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Complex and extensively researched, the impact of corruption on economic growth seems to be intricate. Many experts believe that corruption reduces economic development. However, counterarguments have suggested that corruption either promotes growth and development or has no significant impact on economic performance. Clearly, there is no consensus in the economics literature regarding the possible relationship between corruption and economic development. Corruption's complex and clandestine nature, which makes it difficult to define and measure, is one of the obstacles that must be overcome when investigating its effect on an economy. In an attempt to contribute to the ongoing debate, this study examines the impact of corruption on economic growth in the Middle East and North Africa (MENA) region between 2000 and 2021 using a Customized Corruption Index-CCI and panel data on MENA countries. These countries were selected because they are understudied in the economic literature, and despite the World Bank's recent emphasis on corruption in the developing world, the MENA countries have received little attention. The researcher used Cobb-Douglas functional form to test corruption in MENA using a customized index known as Customized Corruption Index-CCI to track corruption over almost 20 years, then used the dynamic panel data. The findings indicate that there is a positive correlation between corruption and economic growth, but this is not consistent across all MENA nations. First, the relatively recent lack of data from MENA nations. This issue is related to the inaccessibility of data for many MENA countries, particularly regarding the returns on resources, private malfeasance, and other variables in Gulf countries. In addition, the researcher encountered several restrictions, such as electricity and internet outages, due to the fact that he is from Lebanon, a country whose citizens have endured difficult living conditions since the Lebanese crisis began in 2019. Demonstrating a customized index known as Customized Corruption Index-CCI that suits the characteristics of MENA countries to peculiarly measure corruption in this region, the outcome of the Customized Corruption Index-CCI is then compared to the Corruption Perception Index-CPI and Control of Corruption from World Governance Indicator-CC from WGI.

Keywords: corruption, economic growth, corruption measurements, empirical review, impact of corruption

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Authors: Nour Eddine Nachouane, Aicha Knidiri

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The Hispano-Moorish art was born in 786 when Abd ar-Rahman built the first mosque in Cordoba. It is a still-living art in the trades of the big Moroccan cities. Everyone agrees that the different artistic forms of Arab-Muslim art find their full development in traditional Moroccan architecture, and this heritage allows artists and artisans to create magnificent masterpieces. Marrakech, by way of example, constitutes a symbolic city, which represents the reflection of a rich history of this art carried by a long artisanal tradition that is still living nowadays. Despite its ratification by UNESCO as intangible cultural heritage, and beyond official speeches, several of those craft trades are endangered, and with them the whole history of millennial savoir-faire. From the empirical study of the old historic center, 'the medina' of Marrakech, we explore in this article the opportunity offered by the tourism industry in order to protect these craft trades. We question artisans on the evolution of the sector and the challenges of the transmission of this heritage. We evoke the case of Spanish cities like Granada in a comparative reflection on the strategies and perceptions of the public administrations of a part, and, on the other hand, on the shared experience of artisans and tourists. In an interdisciplinary approach mixing anthropology, history, sociology, and even geography, we question the capacity of heritage processes to mobilize and involve a set of actors and activate a trajectory for the safeguarding of Andalusian arts and techniques. The basic assumption of this research is that the promotion of traditional craft trades through tourism and based on good scientific knowledge can present an original offer to cope with globalization and guarantee the transmission of that savoir-faire to new generations. Research in the field of Islamic arts does not constitute a retreat into the nationalist identity or a fixation on the past but an opening towards cultural diversity, free from any standardization.

Keywords: heritage, art andalusi, handcraft, tourism

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Authors: A. Nour Eddine, D. Chalet, L. Aixala, P. Chessé, X. Faure, N. Hatat

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Thermal power technology such as the TEG (Thermo-Electric Generator) arouses significant attention worldwide for waste heat recovery. Despite the potential benefits of marine application due to the permanent heat sink from sea water, no significant studies on this application were to be found. In this study, a test rig has been designed and built to test the performance of the TEG on engine operating points. The TEG device is built from commercially available materials for the sake of possible economical application. Two types of commercial TEM (thermo electric module) have been studied separately on the test rig. The engine data were extracted from a commercial Diesel engine since it shares the same principle in terms of engine efficiency and exhaust with the marine Diesel engine. An open circuit water cooling system is used to replicate the sea water cold source. The characterization tests showed that the silicium-germanium alloys TEM proved a remarkable reliability on all engine operating points, with no significant deterioration of performance even under sever variation in the hot source conditions. The performance of the bismuth-telluride alloys was 100% better than the first type of TEM but it showed a deterioration in power generation when the air temperature exceeds 300 °C. The temperature distribution on the heat exchange surfaces revealed no useful combination of these two types of TEM with this tube length, since the surface temperature difference between both ends is no more than 10 °C. This study exposed the perspective of use of TEG technology for marine engine exhaust heat recovery. Although the results suggested non-sufficient power generation from the low cost commercial TEM used, it provides valuable information about TEG device optimization, including the design of heat exchanger and the types of thermo-electric materials.

Keywords: internal combustion engine application, Seebeck, thermo-electricity, waste heat recovery

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Authors: Hassan Nour, Nouh Mounadi, Oussama Abchir, Belaidi Salah, Samir Chtita

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Cholinesterase enzymes are biological catalysts essential for the transformation of acetylcholine, which is a neurotransmitter implicated in memory and learning, into acetic acid and choline, altering the neurotransmission process in Alzheimer’s disease patients. Therefore, inhibition of cholinesterase enzymes is a relevant strategy for the symptomatic treatment of Alzheimer’s disease. The current investigation aims to explore potential Cholinesterase (ChE) inhibitors through a comprehensive computational approach. Forty-nine phytoconstituents extracted from Cannabis sativa L were in-silico screened using molecular docking, pharmacokinetic and toxicological analysis to evaluate their possible inhibitory effect towards the cholinesterase enzymes. Two phytoconstituents belonging to cannabinoid derivatives were revealed to be promising candidates for Alzheimer therapy by acting as cholinesterase inhibitors. They have exhibited high binding affinities towards the cholinesterase enzymes and showed their ability to interact with key residues involved in cholinesterase enzymatic activity. In addition, they presented good ADMET profiles allowing them to be promising oral drug candidates. Furthermore, molecular dynamics (MD) simulations were executed to explore their interactions stability under mimetic biological conditions and thus support our findings. To corroborate the docking results, the binding free energy corresponding to the more stable ligand-ChE complexes was re-estimated by applying the MM-PBSA method. MD and MM-PBSA studies affirmed that the ligand-ChE recognition is spontaneous reaction leading to stable complexes. The conducted investigations have led to great findings that would strongly guide the pharmaceutical industries towards the rational development of potent anti-Alzheimer agents.

Keywords: alzheimer’s disease, molecular docking, cannabis sativa l, cholinesterase inhibitors

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Authors: A. M. Nour, M. A. Zaki, E. A. Omer, Nourhan Mohamed

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Performances of mixed-sex Nile tilapia (Oreochromis niloticus) fingerlings (11.33 ± 1.78 g /fish) reared under biofloc system developed by molasses and sucrose as carbon sources in indoor fiberglass tanks were evaluated. Six indoor fiberglass tanks (1m 3 each filled with 1000 l of underground fresh water), each was stocked with 2kg fish were used for 14 weeks experimental period. Three experimental groups were designed (each group 2 tanks) as following: 1-control: 20% daily without biofloc, 2-zero water exchange rate with biofloc (molasses as C source) and 3-zero water exchange rate with biofloc (sucrose as C source). Fish in all aquariums were fed on floating feed pellets (30% crude protein, 3 mm in diameter) at a rate of 3% of the actual live fish body, 3 times daily and 6 days a week. Carbohydrate supplementations were applied daily to each tank two hrs, after feeding to maintain the carbon: nitrogen ratio (C: N) ratio 20:1. Fish were reared under continuous aeration by pumping air into the water in the tank bottom using two sandy diffusers and constant temperature between 27.0-28.0 ºC by using electrical heaters for 10 weeks. Criteria's for assessment of water quality parameters, biofloc production and fish growth performances were collected and evaluated. The results showed that total ammonia nitrogen in control group was higher than biofloc groups. The biofloc volumes were 19.13 mg/l and 13.96 mg/l for sucrose and molasses, respectively. Biofloc protein (%), ether extract (%) and gross energy (kcal/100g DM), they were higher in biofloc molasses group than biofloc sucrose group. Tilapia growth performances were significantly higher (P < 0.05) with molasses group than in sucrose and control groups, respectively. The highest feed and nutrient utilization values for protein efficiency ratio (PER), protein productive (PPV%) and energy utilization (EU, %) were higher in molasses group followed by sucrose group and control group respectively.

Keywords: biofloc, Nile tilapia, cabohydrates, performances

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Authors: Hassan Nour, Nouh Mounadi, Oussama Abchir, Belaidi Salah, Samir Chtita

Abstract:

Cholinesterase enzymes are biological catalysts essential for the transformation of acetylcholine, which is a neurotransmitter implicated in memory and learning, into acetic acid and choline, altering the neurotransmission process in Alzheimer’s disease patients. Therefore, inhibition of cholinesterase enzymes is a relevant strategy for the symptomatic treatment of Alzheimer’s disease. The current investigation aims to explore potential cholinesterase (ChE) inhibitors through a comprehensive computational approach. Forty-nine phytoconstituents extracted from Cannabis sativa L. were in-silico screened using molecular docking and pharmacokinetic and toxicological analysis to evaluate their possible inhibitory effect on the cholinesterase enzymes. Two phytoconstituents belonging to cannabinoid derivatives were revealed to be promising candidates for Alzheimer's therapy by acting as cholinesterase inhibitors. They have exhibited high binding affinities towards the cholinesterase enzymes and showed their ability to interact with key residues involved in cholinesterase enzymatic activity. In addition, they presented good ADMET profiles allowing them to be promising oral drug candidates. Furthermore, molecular dynamics (MD) simulations were executed to explore their interaction stability under mimetic biological conditions and thus support our findings. To corroborate the docking results, the binding free energy corresponding to the more stable ligand-ChE complexes was re-estimated by applying the MM-PBSA method. MD and MM-PBSA studies affirmed that the ligand-ChE recognition is a spontaneous reaction leading to stable complexes. The conducted investigations have led to great findings that would strongly guide the pharmaceutical industries toward the rational development of potent anti-Alzheimer agents.

Keywords: Alzheimer’s disease, molecular docking, Cannabis sativa L., cholinesterase inhibitors, molecular dynamics, ADMET, MM-PBSA

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Authors: Ahmed Bahieldin, Ahmed Atef, Jamal S. M. Sabir, Nour O. Gadalla, Sherif Edris, Ahmed M. Alzohairy, Nezar A. Radhwan, Mohammed N. Baeshen, Ahmed M. Ramadan, Hala F. Eissa, Sabah M. Hassan, Nabih A. Baeshen, Osama Abuzinadah, Magdy A. Al-Kordy, Fotouh M. El-Domyati, Robert K. Jansen

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Wild salt-tolerant barley (Hordeum spontaneum) is the ancestor of cultivated barley (Hordeum vulgare or H. vulgare). Although the cultivated barley genome is well studied, little is known about genome structure and function of its wild ancestor. In the present study, RNA-Seq analysis was performed on young leaves of wild barley treated with salt (500 mM NaCl) at four different time intervals. Transcriptome sequencing yielded 103 to 115 million reads for all replicates of each treatment, corresponding to over 10 billion nucleotides per sample. Of the total reads, between 74.8 and 80.3% could be mapped and 77.4 to 81.7% of the transcripts were found in the H. vulgare unigene database (unigene-mapped). The unmapped wild barley reads for all treatments and replicates were assembled de novo and the resulting contigs were used as a new reference genome. This resultedin94.3 to 95.3%oftheunmapped reads mapping to the new reference. The number of differentially expressed transcripts was 9277, 3861 of which were uni gene-mapped. The annotated unigene- and de novo-mapped transcripts (5100) were utilized to generate expression clusters across time of salt stress treatment. Two-dimensional hierarchical clustering classified differential expression profiles into nine expression clusters, four of which were selected for further analysis. Differentially expressed transcripts were assigned to the main functional categories. The most important groups were ‘response to external stimulus’ and ‘electron-carrier activity’. Highly expressed transcripts are involved in several biological processes, including electron transport and exchanger mechanisms, flavonoid biosynthesis, reactive oxygen species (ROS) scavenging, ethylene production, signaling network and protein refolding. The comparisons demonstrated that mRNA-Seq is an efficient method for the analysis of differentially expressed genes and biological processes under salt stress.

Keywords: electron transport, flavonoid biosynthesis, reactive oxygen species, rnaseq

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Authors: Nour Aladdin

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This paper explores the interconnectedness of belonging, space, and identity in Anglo Arab literature, particularly Saleem Haddad’s Guapa and Hasan Namir’sGod in Pink. This paper suggest that Rasa and Ramy, the queer Arab characters respectively, do not belong in either the Middle East or the West. Using Amin Maalouf’s analysis of the Arab identity, specifically his argument that an individual identifies strongly with the aspect of their identity that is under attack, this paper argues that all of Rasa and Ramy’s spaces are politically charged - a term that denotes that all values and beliefs instilled in Arabs and their spaces are heavily influenced by Arab politics, culture, and, often times religion. Therefore, the politically charged environments Rasa and Ramy inhabit will always be against one part of their identity, which is why they cannot identify as queer and Arab simultaneously. For Rasa, the unnamed Middle Eastern country, his home environment, as well as the so-called safe space nightclub, condemn his queerness, leading him to connect more to his sexual orientation. However, Rasa associates himself with his Arab roots when he migrates to America, a different form of politically charged space that minoritizes his ethnicity. Similarly, Ramy’s spaces are naturally religiopolitical after Islam heightened in Iraq during the Iraq War; as a result, Ramy’s home environment, Sheikh Ammar’s house, the mosque, and the nightclub are influenced by the religiopolitics and bombard his ability to identify as not only a queer Arab but a queer Arab Muslim. Ultimately, because Rasa and Ramy are constantly in movement, their identity attributes are also in movement. This paper is divided into three sections. The first section focuses on Guapa and the Arab Spring’s politics, mainly its influence on queer Arabs in and around the Middle East. Drawing from a number of queer and Arab gender theories, I analyze all of Rasa’s spaces as politically charged that prevent him from the means to be queer and Arab. The second section examines God in Pink in close connection to the 2003 invasion of Iraq. Ramy’s spaces are religiopolitically charged, that prevent him to embrace all of his identity attributes – nationality, ethnicity, sexual orientation, and religious affiliation – concomitantly. The last section considers the rapid use of technology and social media in the Middle East as a means to provide deviant heterotopic spaces for queer Arabs. With the rise of subtle and covert queer heterotopias, there is a slow and steady shift of queer tolerance in the Arab world.

Keywords: belonging, identity, spaces, queer, arabness, middle east, orientalism

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Authors: Inas Raafat, Azza El Bassiouny, Waldemar L. Olszewsky, Nagui E. Mikhail, Mona Nossier, Nora E. I. El-Bassiouni, Mona Zoheiry, Houda Abou Taleb, Noha Abd El-Aal, Ali Baioumy, Shimaa Attia

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Background: Orthotopic liver transplantation is an established treatment for patients with severe acute and end-stage chronic liver disease. The shortage of donor organs continues to be the rate-limiting factor for liver transplantation throughout the world. Hepatocyte transplantation is a promising treatment for several liver diseases and can, also, be used as a "bridge" to liver transplantation in cases of liver failure. Aim of the work: This study was designed to develop a highly efficient protocol for isolation and transplantation of hepatocytes in experimental Lewis rat model to provide satisfactory guidelines for future application on humans.Materials and Methods: Hepatocytes were isolated from the liver by double perfusion technique and bone marrow cells were isolated by centrifugation of shafts of tibia and femur of donor Lewis rats. Recipient rats were subjected to sub-lethal dose of irradiation 2 days before transplantation. In a laparotomy operation the spleen was injected by freshly isolated hepatocytes and bone marrow cells were injected intravenously. The animals were sacrificed 45 day latter and splenic sections were prepared and stained with H & E, PAS AFP and Prox1. Results: The data obtained from this study showed that the double perfusion technique is successful in separation of hepatocytes regarding cell number and viability. Also the method used for bone marrow cells separation gave excellent results regarding cell number and viability. Intrasplenic engraftment of hepatocytes and live tissue formation within the splenic tissue were found in 70% of cases. Hematoxylin and eosin stained splenic sections from 7 rats showed sheets and clusters of cells among the splenic tissues. Periodic Acid Schiff stained splenic sections from 7 rats showed clusters of hepatocytes with intensely stained pink cytoplasmic granules denoting the presence of glycogen. Splenic sections from 7 rats stained with anti-α-fetoprotein antibody showed brownish cytoplasmic staining of the hepatocytes denoting positive expression of AFP. Splenic sections from 7 rats stained with anti-Prox1 showed brownish nuclear staining of the hepatocytes denoting positive expression of Prox1 gene on these cells. Also, positive expression of Prox1 gene was detected on lymphocytes aggregations in the spleens. Conclusions: Isolation of liver cells by double perfusion technique using collagenase buffer is a reliable method that has a very satisfactory yield regarding cell number and viability. The intrasplenic route of transplantation of the freshly isolated liver cells in an immunocompromised model was found to give good results regarding cell engraftment and tissue formation. Further studies are needed to assess function of engrafted hepatocytes by measuring prothrombin time, serum albumin and bilirubin levels.

Keywords: Lewis rats, hepatocytes, BMCs, transplantation, AFP, Prox1

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Authors: Artem Kim, Clara Savary, Christele Dubourg, Wilfrid Carre, Houda Hamdi-Roze, Valerie Dupé, Sylvie Odent, Marie De Tayrac, Veronique David

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Holoprosencephaly (HPE) is a rare congenital brain malformation resulting from the incomplete separation of the two cerebral hemispheres. It is characterized by a wide phenotypic spectrum and a high degree of locus heterogeneity. Genetic defects in 16 genes have already been implicated in HPE, but account for only 30% of cases, suggesting that a large part of genetic factors remains to be discovered. HPE has been recently redefined as a complex multigenic disorder, requiring the joint effect of multiple mutational events in genes belonging to one or several developmental pathways. The onset of HPE may result from accumulation of the effects of multiple rare variants in functionally-related genes, each conferring a moderate increase in the risk of HPE onset. In order to decipher the genetic basis of HPE, unconventional patterns of inheritance involving multiple genetic factors need to be considered. The primary objective of this study was to uncover possible disease causing combinations of multiple rare variants underlying HPE by performing trio-based Whole Exome Sequencing (WES) of familial cases where no molecular diagnosis could be established. 39 families were selected with no fully-penetrant causal mutation in known HPE gene, no chromosomic aberrations/copy number variants and without any implication of environmental factors. As the main challenge was to identify disease-related variants among a large number of nonpathogenic polymorphisms detected by WES classical scheme, a novel variant prioritization approach was established. It combined WES filtering with complementary gene-level approaches: transcriptome-driven (RNA-Seq data) and clinically-driven (public clinical data) strategies. Briefly, a filtering approach was performed to select variants compatible with disease segregation, population frequency and pathogenicity prediction to identify an exhaustive list of rare deleterious variants. The exome search space was then reduced by restricting the analysis to candidate genes identified by either transcriptome-driven strategy (genes sharing highly similar expression patterns with known HPE genes during cerebral development) or clinically-driven strategy (genes associated to phenotypes of interest overlapping with HPE). Deeper analyses of candidate variants were then performed on a family-by-family basis. These included the exploration of clinical information, expression studies, variant characteristics, recurrence of mutated genes and available biological knowledge. A novel bioinformatics pipeline was designed. Applied to the 39 families, this final integrated workflow identified an average of 11 candidate variants per family. Most of candidate variants were inherited from asymptomatic parents suggesting a multigenic inheritance pattern requiring the association of multiple mutational events. The manual analysis highlighted 5 new strong HPE candidate genes showing recurrences in distinct families. Functional validations of these genes are foreseen.

Keywords: complex genetic disorder, holoprosencephaly, multiple rare variants, whole exome sequencing

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Authors: Carine Platat, Fatima Qshadi, Ghofran Kayed, Nour Hussein, Amjad Jarrar, Habiba Ali

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Nowadays, smartphones are very popular. They are offering a variety of easy-to-use and free applications among which step counters and fitness tests. The number of users is huge making of such applications a potentially efficient new strategy to encourage people to become more active. Nonetheless, data on their reliability and validity are very scarce and when available, they are often negative and contradictory. Besides, weight status, which is likely to introduce a bias in the physical activity assessment, was not often considered. Hence, the use of these applications as motivational tool, assessment tool and in research is questionable. PACER is one of the free step counters application. Even though it is one of the best rated free application by users, it has never been tested for reliability and validity. Prior any use of PACER, this remains to be investigated. The objective of this work is to investigate the reliability and validity of the smartphone application PACER in measuring the number of steps and in assessing the cardiorespiratory fitness by the 6 minutes walking test. 20 overweight or obese students (10 male and 10 female) were recruited at the United Arab Emirate University, aged between 18 and 25 years old. Reliability and validity were tested in real life conditions and in controlled conditions by using a treadmill. Test-retest experiments were done with PACER on 2 days separated by a week in real life conditions (24 hours each time) and in controlled conditions (30 minutes on treadmill, 3km/h). Validity was tested against the pedometer OMRON in the same conditions. During treadmill test, video was recorded and steps numbers were compared between PACER, pedometer and video. The validity of PACER in estimating the cardiorespiratory fitness (VO2max) as part of the 6 minutes walking test (6MWT) was studied against the 20m shuttle running test. Reliability was studied by calculating intraclass correlation coefficients (ICC), 95% confidence interval (95%CI) and by Bland-Altman plots. Validity was studied by calculating Spearman correlation coefficient (rho) and Bland-Altman plots. PACER reliability was good in both male and female in real life conditions (p≤10-3) but only in female in controlled conditions (p=0.01). PACER was valid against OMRON pedometer in male and female in real life conditions (rho=0.94, p≤10-3 ; rho=0.64, p=0.01, in male and female respectively). In controlled conditions, PACER was not valid against pedometer. But, PACER was valid against video in female (rho=0.72, p≤10-3). PACER was valid against the shuttle run test in male and female (rho-=0.66, p=0.01 ; rho=0.51, p=0.04) to estimate VO2max. This study provides data on the reliability and viability of PACER in overweight or obese male and female young adults. Globally, PACER was shown as reliable and valid in real life conditions in overweight or obese male and female to count steps and assess fitness. This supports the use of PACER to assess and promote physical activity in clinical follow-up and community interventions.

Keywords: smartphone application, pacer, reliability, validity, steps, fitness, physical activity

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Authors: Leen Al Kassab, Sarah Johns, Helen Noble, Nawal Nour, Elizabeth Janiak, Sarrah Shahawy

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Introduction: Immigrant and refugee women experience disparities in sexual and reproductive health (SRH) outcomes, partially as a result of barriers to SRH literacy and to regular healthcare access and engagement. Despite the existing data highlighting growing needs for culturally relevant and structurally competent care, interventions are scarce and not well-documented. Methods: In this IRB-approved study, we used a community-based participatory research approach, with the assistance of a community advisory board, to conduct a qualitative needs assessment of SRH knowledge and service engagement with immigrant and refugee women from Africa or the Middle East and currently residing in Boston. We conducted a total of nine focus group discussions (FGDs) in partnership with medical, community, and religious centers, in six languages: Arabic, English, French, Somali, Pashtu, and Dari. A total of 44 individuals participated. We explored migrant and refugee women’s current and evolving SRH care needs and gaps, specifically related to the development of interventions and clinical best practices targeting SRH literacy, healthcare engagement, and informed decision-making. Recordings of the FGDs were transcribed verbatim and translated by interpreter services. We used open coding with multiple coders who resolved discrepancies through consensus and iteratively refined our codebook while coding data in batches using Dedoose software. Results: Participants reported immigrant adaptation experiences, discrimination, and feelings of trust, autonomy, privacy, and connectedness to family, community, and the healthcare system as factors surrounding SRH knowledge and needs. The context of previously learned SRH knowledge was commonly noted to be in schools, at menstruation, before marriage, from family members, partners, friends, and online search engines. Common themes included empowering strength drawn from religious and cultural communities, difficulties bridging educational gaps with their US- born daughters, and a desire for more SRH education from multiple sources, including family, health care providers, and religious experts & communities. Regarding further SRH education, participants’ preferences varied regarding ideal platform (virtual vs. in-person), location (in religious and community centers or not), smaller group sizes, and the involvement of men. Conclusions: Based on these results, empowering SRH initiatives should include both community and religious center-based, as well as clinic-based, interventions. Interventions should be composed of frequent educational workshops in small groups involving age-grouped women, daughters, and (sometimes) men, tailored SRH messaging, and the promotion of culturally, religiously, and linguistically competent care.

Keywords: community, immigrant, religion, sexual & reproductive health, women's health

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