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Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome

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World Journal of Clinical Cases 2024年第3期12卷 503-516页

作者： Wiem Manoubi Marwa Mahdouani Dorra Hmida Ameni Kdissa Aida Rouissi Ilhem Turki Neji Gueddiche Najla Soyah Ali Saad Christian Bouwkamp Ype Elgersma soumaya Mougou-Zerelli Moez Gribaa Laboratory of Human Cytogenetics Molecular Genetics and Reproductive BiologyFarhat Hached University HospitalSousse 4000Tunisia Higher Institute of Biotechnology of Monastir University of MonastirMonastir 3000Tunisia Department of Neuropediatry La Rabta HospitalTunis 2000Tunisia Department of Pediatric Farhat Hached University HospitalSousse 4000Tunisia Department of Neuroscience Erasmus MCthe NetherlandsRotterdam 3112 tdNetherlands

BACKGROUND Angelman syndrome(AS)is caused by maternal chromosomal deletions,imprinting defects,paternal uniparental disomy involving chromosome 15 and the ubiquitin-protein ligase UBE3A gene mutations.However the genetic basis remains unclear for several patients.AIM To investigate the involvement of UBE3A gene in AS and identifying new potential genes using exome sequencing.METHODS We established a cohort study in 50 patients referred to Farhat Hached University Hospital between 2006 and 2021,with a strong suspicion of AS and absence of chromosomal aberrations.The UBE3A gene was screened for mutation detection.Two unrelated patients issued from consanguineous families were subjected to exome analysis.RESULTS We describe seven UBE3A variants among them 3 none previously described including intronic variants c.2220+14T>C(intron14),c.2507+43T>A(Exon15)and insertion in Exon7:c.30-47_30-46.The exome sequencing revealed 22 potential genes that could be involved in AS-like syndromes that should be investigated further.CONCLUSION Screening for UBE3A mutations in AS patients has been proven to be useful to confirm the diagnosis.Our exome findings could rise to new potential alternative target genes for genetic counseling.

关键词： Angelman syndrome Ubiquitin-protein ligase E3A Exome Consanguinity Polymorphism

In vitro anti-melanoma effect of polyphenolic compounds

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Asian Pacific Journal of Tropical Biomedicine 2022年第10期12卷 446-452页

作者： Fairouz Sioud Mouna Maatouk Imen Mokdad Bzeouich Leila Chekir Ghedira soumaya Kilani-Jaziri Unit of Bioactive and Natural Substances and Biotechnology UR17ES49 Faculty of Dentistry University of MonastirAvicenne Street5019 MonastirTunisia Department of Pharmaceutical Sciences A Faculty of Pharmacy of Monastir University of MonastirIbn sina Street5000MonastirTunisia Faculty of Medecine of Monastir University of Monastir Avicenne Street5000MonastirTunisia

Objective:To evaluate the effects of phenolic acids(caffeic,ferulic,and coumaric acids)and flavones(luteolin and apigenin)on the proliferation and melanogenesis in murine melanoma B16-F10 cells.Methods:Cell proliferation was determined after 24 and 48 hours of incubation using MTT assay.The effects of these tested compounds on cell cycle progression were analyzed by flow cytometry.Moreover,the melanin content and tyrosinase activity were measured spectrophotometrically at 475 nm.Results:Luteolin and apigenin exhibited significant anti-proliferative activity against B16-F10 cells,while caffeic,ferulic,and coumaric acids induced slight inhibition after 24 and 48 hours of incubation.The tested compounds disturbed cell cycle progression of B16-F10,by a subsequent decrease in G1 and arrested cycle progression in either G1/S or G2/M phase.Furthermore,apigenin provoked an increase in melanin content of B16-F10 cells.In contrast,luteolin,caffeic,ferulic and coumaric acids induced a decrease in melanin content of B16-F10 cells by inhibiting tyrosinase activity.Conclusions:These active polyphenols may be used as skin whitening agents or natural tanning agents to treat skin pigmentation disorders.

关键词： Polyphenols Cytotoxic activity Cell cycle Melanin content Tyrosinase activity Melanoma

A BIFURCATION PROBLEM ASSOCIATED TO AN ASYMPTOTICALLY LINEAR FUNCTION

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Acta Mathematica Scientia 2016年第6期36卷 1731-1746页

作者： soumaya SAANOUNI Nihed TRABELSI Department of Mathematics Faculty of Sciences of TunisUniversity of Tunis El Manar Higher Institut of Medicals Technologies of Tunis University of Tunis El Manar

We study the existence of positive solutions to a two-order semilineav elliptic problem with Dirichlet boundary condition（Pλ）{-div（c（x）△u=λf（u）inΩ,u=0 on ЭΩ where ΩCR n 〉 2 is a smooth bounded domain; f is a positive, increasing and convex source term and c（x） is a smooth bounded positive function on Ω, We also prove the existence of critical value and claim the uniqueness of extremal solutions.

关键词： extremal solution regularity bifurcation stability

MicroRNAs as Important Players in Host-hepatitis B Virus Interactions

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Journal of Clinical and Translational Hepatology 2015年第2期3卷 149-161页

作者： Bouchra Kitab Hanane Salih Alj Sayeh Ezzikouri soumaya Benjelloun Viral Hepatitis Laboratory Virology Unit Institut Pasteur du Maroc Casablanca Morocco Laboratory of Biology and Health URAC34 Faculty of Sciences Ben M'sik University Hassan Ⅱ Casablanca Morocco

Hepatitis B virus (HBV) infection,a major public health problem,causes acute and chronic hepatitis that is often complicated by liver cirrhosis and hepatocellular carcinoma.The pathogenic mechanisms of HBV-related liver disease are not well understood,and the current licensed therapies are not effective in permanently clearing virus from the circulation.In recent years,the role of micro-ribonucleic acids (miRNAs) in HBV infection has attracted great interest.Cellular miRNAs can influence HBV replication directly by binding to HBV transcripts and indirectly by targeting cellular factors relevant to the HBV life cycle.They are also involved in the regulation of cellular genes and signaling pathways that have critical roles in HBV pathogenesis.HBV infection,in turn,can trigger changes in cellular miRNA expression that are associated with distinctive miRNA expression profiles depending on the phase of liver disease.These alterations in miRNA expression have been linked to disease progression and hepatocarcinogenesis.We provide here an up to date review regarding the field of miRNAs and HBV interplay and highlight the potential utility of miRNAs as diagnostic biomarkers and therapeutic targets for the management of HBV-related liver disease.

关键词： MicroRNA Hepatitis B virus Host-virus interaction Gene expression Biomarker

Aggressive primary hepatic epithelioid hemangioendothelioma:a case report and literature review

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Cancer Biology & Medicine 2017年第2期14卷 187-190页

作者： Mehdi Afrit Meher Nasri soumaya Labidi Nesrine Mejri Houda El Benna Hamouda Boussen Medical Oncology Department Abderahman Mami Hospital

A new case of epithelioid hemangioendothelioma is reported to have occurred to a 67-year-old patient who consulted for rightsided chest pain. The work-up showed multiple right pulmonary lesions associated with bilateral moderate pleural effusion and left-sided pleural thickening and three hypodense nodules in the right lobe of the liver, peritoneal thickening, ascites, and multiple vertebral lytic lesions. The diagnosis of an epithelioid hemangioendothelioma was concluded through a histological examination of a computed tomography scan guided biopsy of the liver. The patient received a primary mono-chemotherapy with Adriamycin(75 mg/m^2 every three weeks) and intravenous bisphosphonates without response and general status impairment. The patient died after 16 months of follow-up.

关键词：血管内皮细胞上皮原发性计算机断层扫描复习文献肝组织学检查

Implantable port thrombosis in cancer patients: a monocentric experience

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Cancer Biology & Medicine 2016年第3期13卷 384-388页

作者： Manel Dridi Nesrine Mejri soumaya Labidi Mehdi Afrit Houda El Benna Khaoula Ben Miled Hamouda Boussen Medical Oncology Department Abderrahmen Mami Hospital Radiology Department Abderrahmen Mami Hospital

Objective: Implantable port thrombosis(IPT) in cancer patients is a relatively rare but severe complication. Several factors are reportedly associated with the occurrence of thrombosis. We aimed to describe the prevalence and the anatomoclinical features of IPT observed in cancer patients who were treated in a medical oncology department in Tunisia.Methods: A total of 600 cancer patients who had port implantation from January 2013 to December 2015 were retrospectively identified. Cases with symptomatic/incidental IPT(radiologically confirmed) were further identified. Epidemiological and anatomoclinical features were collected from patient records and the department database.Results: We observed that 33 of the 600 patients had IPT; thus, the prevalence was 5.5%. The median age was 57 years, and the gender ratio was 0.43. Overweight or obesity was observed in 73% of the patients. IPT occurred mainly in patients with breast(36.4%) and colorectal(33.3%) cancers, which were mostly nonmetastatic(79%). At least one identified classical thromboembolic risk factor was found in 13 patients(smoking in 9, tamoxifen in 2). IPT was symptomatic in 93% of the cases, occurring within an average time of 56 days. Implantable ports were removed because of infection in 2 cases and nonfunctionality in 3 cases. IPT treatment was based on low-molecular-weight heparins(94%) and antivitamin K(6%) for an average of 130 days. Four patients had post-therapy complications: one thrombosis recurrence and three infections.Conclusions: IPT cases in the 600 patients were observed to occur in obese nonmetastatic cancer patients within the first 3 months after IP implantation.

关键词： Implantable port cancer patients thrombosis

Supplementing Conventional Treatment with Pycnogenol(R) May Improve Hepatitis C Virus-Associated Type 2 Diabetes:A Mini Review

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Journal of Clinical and Translational Hepatology 2016年第3期4卷 228-233页

作者： Sayeh Ezzikouri Fatima Zahra Jadid Salsabil Hamdi Lahcen Wakrim Kyoko Tsukiyama-Kohara soumaya Benjelloun Virology Unit Viral Hepatitis Laboratory Institut Pasteur du Maroc Casablanca Morocco Virology Unit Immunovirology Laboratory Institut Pasteur du Maroc Casablanca Morocco Laboratory of Animal Hygiene Joint Faculty of Veterinary MedicineKagoshima University Kagoshima Japan Transboundary Animal Diseases Centre Joint Faculty of Veterinary MedicineKagoshima University Kagoshima Japan

Hepatitis C virus (HCV) infection and type 2 diabetes mellitus (T2DM) present a significant health burden,with increasing complications and mortality rates worldwide.Pycnogenol(R) (PYC),a natural product,possesses antidiabetic and antiviral properties that may improve HCV-associated T2DM.In this review,we present previously published data on the effectiveness of PYC against HCV replication and T2DM.We believe that supplementing conventional treatment with PYC may improve the current HCV therapy,attenuate HCV-associated T2DM,and reduce the risk of complications such as cirrhosis or hepatocellular carcinoma and cardiovascular disease.

关键词： T2DM Hepatitis C Pycnogenol(R) Complementary medicine

Synergistic combination of colistin with imipenem, amikacineor ciprofloxacin against Acinetobacter baumannii andPseudomonas aeruginosa carbapenem-resistant isolated inAnnaba hospital Algeria

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BIOCELL 2020年第2期44卷 175-182页

作者： SAIDA MELIANI soumaya TOUMI HEYTHEM DJAHOUDI KHALED DEGHDEGH KAMEL AMOURA ABDELGHANI DJAHOUDI Department of Biochemistry Faculty of SciencesLaboratory of MicrobiologyBadji Mokhtar UniversityAnnabaAlgeria Department of Biochemistry Eco-biology Laboratory for Marine and Coastal AreasFaculty of SciencesBP 12 El-HadjarBadjiMokhtar UniversityAnnabaAlgeria Faculty of Medicine Pulmonology Service Badji Mokhtar UniversityAnnabaAlgeria Faculty of Medicine CHU AnnabaBadji Mokhtar UniversityAnnabaAlgeria Department of Pharmacy Faculty of MedicineLaboratory of MicrobiologyBadji Mokhtar UniversityAnnabaBP 205Algeria

Objective:The aim of this study is to detect in vitro the synergetic activity of colistin in combination with imipenem,amikacin or ciprofloxacin,at sub-inhibitory concentrations,against carbapenems-resistant(CR)Acinetobacter baumannii and Pseudomonas aeruginosa strains isolated from various wards in Annaba teaching hospital in eastern Algeria.Materials and Methods:The minimal inhibitory concentrations(MIC)were determined by broth macrodilution(BMD).Carbapenemase encoding genes were screened using polymerase chain reaction(PCR).The activity of colistin in combination with second antibiotic was evaluated by the Checkerboard Technique.Results:39 CR P.aeruginosa and 21 CR A.baumanni strains where collected.The MIC values ranging from(0.25 to 4μg/ml)to colistin,≥16μg/ml for imipenem,≥4μg/ml to amikacin and≥8μg/ml ciprofloxacin.The PCR reveals the presence of the genes blaOXA23(n=12),blaOXA24(n=6),blaNDM1(n=3)in A.baumannii and blaVIM2(n=12)in P.aeruginosa.The combination of colistin with imipenem showed synergistic effect on 57.14%and 46.15%of A.baumannii and P.aeruginosa isolates,respectively.For colistin and amikacin,the synergistic effect is detected in 28.6%of A.baumannii and 30.8%of P.aeruginosa.While colistin and ciprofloxacin showed synergy on 14.29%and 15.38%of A.baumannii and P.aeruginosa isolates,respectively.Conclusion:CR A.baumannii and P.aeruginosa remain the most prevalent infection agents in patients from high-risk wards at Annaba Hospital.Colistin associated with imipenem or with amikacin at sub-inhibitory concentrations gives very encouraging results allowing better management of infections caused by this type of bacteria.

关键词： Carbapenemases Colistin Combination GNB-NF Sub-inhibitory concentration

Evaluation of in vitro antioxidant and apoptotic activities of Cyperus rotundus

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Asian Pacific Journal of Tropical Medicine 2014年第2期7卷 105-112页

作者： Kilani-Jaziri soumaya Ghedira Zied Nasr Nouha Krifa Mounira Ghedira Kamel Franca Dijoux Marie Genviève Ghedira Chekir Leila Unité de Substances Naturelles Bioactives et Biotechnologies UR12ES12.Universite de Monastic Faculte de Pharmacie de Monastir Laboratoire de Biologie Moleculaire et Cellulaire Faculté de Medecine Dentaire de MonastirUniversite de MonastirRue Aricenne5019 MonastirTunisie Laboratoire de Botanique.Pharmacognosie et Phytothérapie UMR CNRS 5557 Ecologie Microbienne Institut des Sciences Pharmaceutiques et Biologiques-Faculte de Pharmacie Université Claude Bernard Btiment Netien-8 Avenue Rockefeller-69373 Lyon cedex 08France

Objective:To evaluate in vitro antioxidant and apoptotic activities of Crperus rotundas(C.rotundus).Methods:The phytochemical study and the antioxidant activities of both methanol and aqueous extracts from C.rotundus aerial part were determined.In addition,these extracts were also investigated for their cytotoxic and apoptotic activities.The major compound of the methanol extract was isolated.Both metlianol and aqueous extracts(300,150,and 50μg/mL)were evaluated for their antioxidant activity by the xanthine/xanthine oxidase assay system.However,16,8,and 4 mg/mL of each extract were tested to investigate their OH.formation scavenging potential.Aqueous extract(800,400.and 200μg/mL)and melhunol extract(350,175,and 88μg/mL)were tested against lipid peroxidation,induced by 75μM H_2O_2,The cytotoxicity(by MTT assay)and cell DNA fragmentation of both extracts were evaluated Inwards K562 and L1210 cell lines.The major compound was obtained from the butanol fraction of methanol extract and its structure was determined by KMN spectroscopic analysis.Results:The methanol and aqueous extracts showed respectively,88%and 19%inhibition of xanthine oxidase activity.Vet.the same extracts inhibited lipid peroxidation by 61.5%and 42.0%.respectively.Roth extracts inhibited OH.formation by 27.1%and 25.3%,respectively.Only methanol cxtract induced DNA degradation.Orientin was determined as the major compound isolated from the butanol fraction of metlianol extract.Conclusions:It appears that C.rotundus extracts exhibit a potential use as a natural antioxidant and an apoptosis inducer.

关键词： Polyphenols Orientin Xanthine/Xanthine oxidase assay Lipid peroxidation assay Deoxyribose assay DNA fragmentation