University Of Sfax Research Articles

P-584 Occupational paternal risk factors for cryptorchidism and hypospadias in the offspring: a case-control study

Abstract Study question Does paternal occupational exposures to reprotoxic chemical and physical hazards constitute risk factors to cryptorchidism and hypospadias in the offspring? Summary answer Paternal occupational reprotoxic exposures, determined through a job exposure matrix, and paternal rural lifestyle are associated with cryptorchidism, hypospadias, and other genital congenital malformations. What is known already Cryptorchidism and hypospadias are the most common congenital malformations of the male urogenital organs. Over the past century, these congenital malformations, which are associated with testicular cancer and impaired semen quality, have been included into a common disease spectrum known as the testicular dysgenesis syndrome. The association between urogenital congenital malformations and fetal exposure to many factors has been suggested, in particular to genetic and epigenetic factors and environmental factors. There is growing scientific evidence that both maternal and paternal exposure at the time of fertilization play a role after fertilization. Study design, size, duration This is a case-control study with standardized data collection of a 220 father-child cohort recruited from the consultants of our genetic counseling service at the medical university of Sfax (Tunisia), over two years. Participants/materials, setting, methods We compared 110 children diagnosed with congenital malformations to 110 children without any congenital defects. Controls did not differ from the total cohort in confounding variables. Information about paternal jobs held early in pregnancy was collected. Determined via a job exposure matrix, paternal occupational reprotoxic exposures were assessed. Logistic regression analysis was performed to assess the associations between paternal occupational exposures and the congenital testicular dysgenesis syndrome in offspring, including cryptorchidism and hypospadias. Main results and the role of chance 75.54% of children had congenital heart defects and 24.54% of them had genital malformations (n = 27). Paternal occupational exposures to pesticides were associated with the risk of developing birth defects (odds ratio = 17.568 (95% CI), 2.258-136.673). Our results indicate that paternal exposure to pesticides, phthalates, alkylphenolic compounds and other endocrine disruptors was associated with genital and cardiac birth defects. Both cryptorchidism and hypospadias in offspring were associated with paternal rural lifestyle as well as the absence of a maternal job. Limitations, reasons for caution The cohort size in this case-control study may limit the statistical power of the logistical regression to detect associations. Additionally, cases and controls may be selected in a way that does not represent the general population accurately. This can introduce bias and affect the external validity of the study. Wider implications of the findings Including paternal exposures in subsequent investigations of risk factors for cryptorchidism and hypospadias, and further exploring the connection between paternal pesticide exposure and epigenetic alterations, may offer insights into their impact on paternal spermatogenesis, sperm small RNAs, and the potential development of congenital testicular dysgenesis syndrome in future generations. Trial registration number 0400/2022

METB-02. GENETIC COUNSELLING IN SOTOS AND NS1-RELATED OVERGROWTH SYNDROMES PREDISPOSING TO BRAIN TUMORS

Abstract BACKGROUND Sotos and many other overgrowth syndromes are among the rare tumor predisposition syndromes that might be under-recognized in pediatric neuro-oncology practice. NSD1 gene (5q35), belonging to the histone lysine methyltransferases family, is involved in the majority of Sotos patients who exhibited haploinsufficiency and loss-of-function variants of the gene, but also in other overgrowth entities such as Beckwith-Wiedemann syndrome. Somatic mutations in this gene are likewise responsible of numerous cancers, particularly brain tumors. Here, we aim to assess the neurologic cancer risks and provide genetic counseling for appropriate clinical follow-up in Sotos syndrome. METHODS From our genetic counseling database at the medical University of Sfax (Tunisia), we selected among patients presented for genetic management of overgrowth syndromes, those with Sotos syndrome. RESULTS Only two Tunisian consanguineous pedigrees were enrolled in this study. Two boys were diagnosed with typical Sotos syndrome based on the three major clinical manifestations: specific facial dysmorphism, mental retardation and excessive growth including advanced bone age and macrocephaly. Chromosomes 5 in both pedigrees did not show structural abnormalities. During genetic counselling, parents were informed about the molecular testing options and the advantage of the exome sequencing. Furthermore, they were informed about the rate of cancer predisposition (3%) and the gains of neurologic and neuro-oncologic management, particularly regarding the intellectual disability and the increased risk of developing neural crest tumors, astrocytoma, glioma/glioblastoma and neuroblastoma cancer, during childhood. CONCLUSIONS Neurological pediatric malignancies are described in patients with Sotos syndrome, but the genotype-phenotype correlation is still unclear. It is suggested that NDS1 disruptions in Sotos patients trigger specific patterns of DNA methylation alterations leading to the development of cancer. Accurate molecular exploration is needed in the heterogeneous Sotos condition in order to improve the management according to the implicated gene and to benefit in the future from targeted therapies.

Organizational culture, compensation systems, decision-making, and efficiency of public higher education institutions: case study of the University of Sfax

Organizational culture, compensation systems, decision-making, and efficiency of public higher education institutions: case study of the University of Sfax

The Results of a Virtual Exchange (VE) Project Carried Out by Universities from Three Different Countries

The VE project was implemented with the cooperation of three universities: Budapest Business University, University of Applied Sciences, Hungary; University of Sfax, Tunisia; and Izmir Democracy University, Turkey, in 2023. The main objective of the Virtual Exchange project was to provide students with opportunities for intercultural and interactional development through the performance of collaborative intercultural tasks. The further aim of the project was to provide students with international intercultural experience and to foster mutual understanding, global education, and digital literacy. We focused significantly on creating joint activities that encouraged international students to communicate in ways that enabled them to grasp knowledge beyond what they could merely acquire from websites or books. Both a preliminary survey and a follow-up survey were conducted among the students involved from the three universities, exploring their initial expectations and cultural perspectives before and after the project. The present study summarises the details and the experiences of the implementation of the Virtual Exchange Project, while another paper presents the results of the questionnaires in more detail.

Investigation of effects of Circadian Rhythm in Sport: A bibliometric analysis.

This study conducted a bibliometric analysis of the literature on circadian rhythms and sports to identify research trends, knowledge gaps, and future directions. A total of 301 manuscripts, including 245 articles and 56 reviews, were extracted from the Web of Science Core Collection (WoSCC) database, and the bibliometric analysis was performed using VOSviewer 1.6.16. The analysis revealed a continuous increase in the volume of literature on circadian rhythms and sports over the past 38 years, with a focus on the effects of circadian rhythms on physical performance, sleep quality, and jet lag. The study identified 1107 authors who have contributed to this field, with the highest number of publications from Reilly T, Chtourou H, and Atkinson G. The publications were from 512 institutions in 59 countries/regions, with Liverpool John Moores University, University of Sfax, and Manouba University being the leading institutions. The USA, UK, and Australia had the largest number of publications. The top 3 journals were Chronobiology International, Biological Rhythm Research, and Sports Medicine. Despite the increase in research, there are still several underexplored areas, such as the effects of circadian rhythms on cognitive and emotional processes in sports, the role of individual differences in circadian rhythms on sports outcomes, and the potential applications of circadian interventions for sports performance optimization. Future research should address these gaps to advance our understanding of the complex relationship between circadian rhythms and sports.

Prevalence of Nomophobia and Addiction to Smartphone among University Students in Tunisia Running Title: Prevalence of Nomophobia among University Students

Users of technology have to increase the time spent on their phone to feel satisfied, and express incessant and compulsive monitoring habits. For this reason, smartphones were designed as potentially addictive. This was a quantitative cross-sectional study describing the prevalence of nomophobia among students in University of Sfax in Tunisia. The predominant age range was 18-20 years with a predominance of the female gender (60%). According to the nomophobia questionnaire (NMP_Q), (99.6%) of the students were nomophobic. This result was reinforced by the Smartphone addiction scale (SAS_SV) which revealed that (97.4%) among them have an addiction on their smartphones. Our results provide a solid basis for developing recommendations for awareness about this topic. Deducing the prevalence of nomophobia especially among young people is a social emergency given its bio-psychosocial impact.

Mediating effect of decision-making between the scientific council and the efficiency of public higher education institutions: case of the University of Sfax

Mediating effect of decision-making between the scientific council and the efficiency of public higher education institutions: case of the University of Sfax

Emotional-psychological concerns of Turner’s patients regarding social discrimination

IntroductionTurner syndrome characterized by total/partial and/or homogeneous/mosaic X chromosome monosomy is associated with various physical health concerns, including facial dysmorphism, short stature, infertility, and other organ defects such as heart, kidney, bone, skin, … as well as variable degrees of cognitive impairments. Besides, social skills, communication and relationships are usually disordered.ObjectivesThe aim of this study was to report social challenges of Turner syndrome particularly related to discrimination regarding physical and cognitive impairments.MethodsA retrospective analysis of clinic data and karyotypes were carried out for the patients diagnosed with Turner syndrome among patients who consulted at our genetic counselling at the medical University of Sfax, during the last two decades.Cytogenetic analysis were carried out using conventional methods and RHG banding with analysis of at least 20 metaphases and 3 karyotypes for each patient. Social challenges were recorded for each patient during pre-cytogenetic consultation and oriented questioning.ResultsWe identified 23 cases referred with a cytogenetic diagnosis of monsomy X. The karyotyping was indicated for dysmorphism, primary or secondary amenorrhea, female infertility and recurrent pregnancy losses. Homogeneous X chromosome monosomy was recorded in 13% of cases, whereas mosaic forms with and without structural X/Y abnormalities were more frequent (82%). The mean age of patients in the study was twenty years. When the 45,X population was the predominant one (56,5%), dysmorphism and primary amenorrhea were constant. In the mosaic forms, clinical traits of Turner syndrome were insignificant. Discrimination based on physical appearance, intellectual disability, and failure to conceive were the three types of social challenges revealed by patients of our study. Parents of Turner patients were also concerned at the psychological level. They in fact revealed their emotional distress face to stressful experiences of their children with Turner syndrome regarding the social discrimination they encountered particularly in schools.ConclusionsSocial challenges related to discrimination based on physical appearance, intellectual disability, and failure to conceive in Turner syndrome lead to depression, low self-esteem and anxiety.Disclosure of InterestNone Declared

Behavioral signs of CHARGE syndrome and CHD7 mutational spectrum

IntroductionCHARGE syndrome is a genetic entity caused by mutations in the chromodomain helicase DNA-binding protein 7 gene (CHD7) at 8q12.1. There are pleiotropic signs among individuals with this disorder. Diagnosis is clinical using medical criteria. CHD7 gene mutations are usually found in 90% of affected patients.ObjectivesThe aim of this study was to report behavioral signs of CHARGE syndrome and their phenotype-genotype correlations.MethodsFour Tunisian males from Sfax (Tunisia) with clinical features suggestive of CHARGE syndrome were examined at our genetic counselling at the medical University of Sfax. Assessment of facial dysmorphic and behavioral features, karyotyping using RHG banding and molecular screening of CHD7 mutations were performed. Molecular analysis was made using direct Sanger sequencing of the entire CHD7 gene.ResultsMolecular genetic analysis revealed two deletions of the CHD7 gene at exon 3 for the first patient and at exon 8 for the second. The two genetic alterations were associated to retarded growth development and genital hypoplasia. Sensory impairments included for the first visual defects and for the second auditory and olfactory defects. Besides constant delayed psychomotor development, the two patients shared receptive and expressive communication disorders, anxiety, attention deficit, cognitive impairment and intellectual disability. There were no aggressive traits nor major autistic features. Learning disabilities were also present for the two patients.ConclusionsThe CHD7 gene controls the developmental pathways as a transcriptional regulator in the nucleoplasm through chromatin organization. Mutational alterations lead according to the affected domains, and the structure of the nonfunctional CHD7 protein, to the perturbation of the regulation of the developmental pathways’ genes expression. CHD7 is demonstrated as an important component of neurogenesis through two neuronal determination factors: Sox4 and Sox11. While nonsense, frameshift and missense mutations are most common, deletions and duplications are less frequent. Moreover, while exon 3 is commonly altered, mutations of exon 8, which is related to the CHD7 protein chromodomain, are very rare. Phenotype-genotype correlations according to the type of genomic alteration of CHD7 gene are rarely published, particularly concerning behavioral and psychological features of CHARGE association. Here, physical disorders of our two patients seem to be different but behavioral features seem to be common. Multidisciplinary care is thus required for CHARGE syndrome and molecular analysis must be indicated because the type of the genomic alterations may be a key step for a more accurate management of physical and behavioral disorders.Disclosure of InterestNone Declared

PP547 [Infections » Other]: LEFT-SIDED APPENDICITIS IN CHILDREN WITH CONGENITAL GASTROINTESTINAL MALROTATION: A DIAGNOSTIC PITFALL IN THE EMERGENCY DEPARTMENT

Department of Pediatric Surgery, University of Sfax, Sfax, Tunisia; Department of Pediatric Surgery Hedi Chaker Hospital, Sfax, Tunisia

PP546 [Infections » Other]: LESS APPENDECTOMY IN CHILDREN: OUR EXPERIENCE IN A DEVELOPING COUNTRY

Department of Pediatric Surgery, University of Sfax, Sfax, Tunisia; Department of Pediatric Surgery Hedi Chaker Hospital, Sfax, Tunisia

PP509 [Other]: ILEOCOLIC INTUSSUSCEPTION IN CHILDREN: PREDICTORS FOR FAILED NONOPERATIVE REDUCTION

Department of Pediatric Surgery, University of Sfax, Sfax, Tunisia; Department of Pediatric Surgery Hedi Chaker Hospital, Sfax, Tunisia

Bibliometric overview of Ramadan fasting studies during 2010–2021

Background and aimsTo quantify the bibliometric parameters of Ramadan fasting literature from 2010 to 2021. Materials and methodsScopus was searched for all articles related to Ramadan fasting or Islamic fasting from the beginning of 2010 to the end of 2021. Only original articles and reviews were included and their bibliometric and scientometric parameters were determined using Excel, Graph Pad Prism, VOSviewer, and Sci2 tool software. ResultsFinally 1276 articles, including 1109 original articles and 167 reviews, were included. These articles had 14263 citations and an H-index of 48. Based on the number of publications, top institute, top journal, top country, and top authors were University of Sfax (n = 48 articles), Diabetes Research and Clinical Practice (n = 69), the United States (n = 144), and Chtourou H & Hassanein M (n = 38), respectively. Also, Diabetes Research and Clinical Practice had a strong bibliographic coupling with other journals. The recent bursting words were adrenal insufficiency and COVID-19. The most co-occurred topics were the effect of Ramadan fasting on diabetic patients, pregnant women, and glycemic state and body composition of diabetic patients. ConclusionThis study provided a comprehensive bibliometric overview of Ramadan fasting literature from 2010 to 2021. The temporal change in the number of publications and other analyses on the literature of 2019, 2020 and 2021 showed that substantial increasing publications with new emerging subjects had become of interest to many researchers during the last three years.

Psychological benefits of pre-conceptional and pre-marital genetic diagnosis in conservative societies

IntroductionPreconceptional genetic diagnosis help couples of genetic disorders carrier risk making an informed reproductive decision. The risk is considerably higher for consanguineous couples. Premarital screening can also offers a crucial health assessment of soon-to-be married couples with genetic risk factors based on specific family history. However, such approach is not usually easy to manage in conservative societies, particularly when the affected family refuse to deliver the necessary information about the genetic condition considered as a taboo.ObjectivesHere, we addressed the psychological benefits of preconceptional and premarital genetic diagnosis through a retrospective study about the preconceptional diagnosis inquiries in our genetic counselling.MethodsIn order to assess requests for autosomal recessive disorders during ten years of our genetic counselling activity at the medical university of Sfax, we reviewed 2500 medical files.Results Three couples were recorded for genetic preconceptional diagnosis. Another couple was documented for seeking a premarital screening for an unknown neuropathy before wedding engagement decision. This single case was referred to us because of a familial history of a severe neuropathy that was noted in the offspring of a shared cousin. The couple was unable to bring us more information about the genetic condition because of the familial repugnance.Conclusions Although our study is limited at the genetic level, it could be socially interesting because it showed the negative attitudes of the general population towards the genetic conditions and the familial responsiveness, as well as the reticence of physicians towards genetic preconceptional and premarital carrier diagnosis.DisclosureNo significant relationships.

Assessment of molecular response to tyrosine kinase inhibitors in Tunisian Patients with Chronic Myeloid Leukemia

This study was carried out to assess the minimal residual disease in Tunisian patients with chronic myeloid leukemia (CML) treated with tyrosine kinase inhibitors in routine clinical practice, to recognize potentially eligible carrier for treatment discontinuation, based on a molecular response (MR). A retrospective study was carried out in the Hospital University of Sfax, south of Tunisia from January 2016 to October 2020, including all CML patients in the chronic phase at diagnosis, treated with TKI (tyrosine kinase inhibitors) for a minimum duration of 6 months. Quantitative assessment of the BCR-ABL transcript was performed using the Cepheid Xpert BCR-ABL ultra-assay. Molecular response and outcome were evaluated, according to the European Leukemia Net guidelines. A total of 162 CML patients were carried out. The median age was 50 years, the sex ratio M/F was 1.62. The rate of cumulative EMR; MMR and DMR was 80.8%; 73.8% and 55.9% respectively. According to the ELN criteria, 141 CML patients were evaluable. Optimal, suboptimal response and failure were noted in 81 (57.4%), 33(23.4%), and 27(19.1%) patients, respectively. Overall survival (OS) and progression-free survival (PFS) were 96.3% and 85%. Risk factors for an event (death/progression) were lack of EMR, MMR, and DMR (P < 0.05). Among 149 patients with sustained DMR; 14 (8.6%) CML patients have discontinued TKI therapy. Despite the limit of our study (duration and size), the available real-life molecular responses with TKI therapy should be considered to identify potentially CML patients eligible for discontinuation of TKI therapy.

ENTREPRENEURSHIP INTENTIONS OF SFAX UNIVERSITY STUDENTS

In Tunisia, the job that thousands of university graduates aim to do is their first choice, not to initiate their own business. This research aims to examine the entrepreneurial mentality of Sfax University students and their objectives of starting a new business by studying the disadvantages preventing them from becoming independent. First, collecting key data through self-prepared questionnaires is done for the evaluation of the explanatory factor’s role, such as attitudes, senses of control, social norms, and students’ perceptions of entrepreneurship, and how each dimension affects entrepreneurs’ intentions. Then, the use of a multiple regression model based on Ajzen’s (1991) Theory of Planned Behavior (TPB) is effective to analyze the data. After receiving entrepreneurship training at the University of Sfax, this theoretical framework was verified by 320 students from different disciplines. The results show that personal attitudes and perceived behavioral control are the explanation of entrepreneurial intentions.

Entrepreneurial intention of academic students in the time of COVID-19 pandemic

PurposeThe purpose of this study was to investigate the consequences of the economic shock caused by the COVID-19 pandemic on the entrepreneurial intentions of academic students. In addition, this research examined whether the pandemic reinforces the tendency to operate new businesses or represents a barrier to the pursuit of entrepreneurial opportunities.Design/methodology/approachThis study was conducted with a sample of university students. Risk perception and contextual variables were measured. Information was collected from 308 university students enrolled at the University of Sfax (Tunisia) who participated by responding to a structured questionnaire distributed in electronic form by email.FindingsThe results show that university students perceive higher levels of personal entrepreneurial risk than other types of entrepreneurial risks (financial risk and social risk). Perceived financial risk only has a significant effect on entrepreneurial intention for students who view the COVID-19 crisis as an opportunity. Regarding perceived contextual support, only perceived educational support has a significant and positive effect on entrepreneurial intention.Research limitations/implicationsThe results have important practical implications for identifying entrepreneurial intentions. They indicate that universities have an essential role in providing educational support for students by implementing awareness and training programs for entrepreneurship. Furthermore, they reveal the differentiated effect of the COVID-19 crisis on the risk perceptions of participants according to their views of the crisis as a threat or as an opportunity.Originality/valueThis is one of few studies that have examined the impact of the COVID-19 pandemic (positive or negative) on the entrepreneurial intention of academic students.

Reviewer Acknowledgements

International Journal of English and Cultural Studies (IJECS) would like to acknowledge the following reviewers for their assistance with peer review of manuscripts for this issue. Many authors, regardless of whether IJECS publishes their work, appreciate the helpful feedback provided by the reviewers. Their comments and suggestions were of great help to the authors in improving the quality of their papers. Each of the reviewers listed below returned at least one review for this issue. Reviewers for Volume 4, Number 1Gillian Steinberg, SAR High School, USAKeeley Megan Buehler Hunter, Southern New Hampshire University, SwitzerlandAna Costa Lopes, Higher School of Education of Viseu, Viseu Polytechnic Institute, PortugalNicolau Nkiawete Manuel, Agostinho Neto University, AngolaFatma Benelhadj, University of Sfax, TunisiaEllie Boyadzhieva, South-West University, Blagoevgrad, BulgariaEmmanuel Chibuzor Okereke, National Examinations Council, Enugu State Office, Enugu, NigeriaShashi Naidu, Ball State University, United StatesJelena Timotijevic, University of Brighton, United KingdomJânderson Coswosk, Instituto Federal do Espírito Santo, BrazilHerman, University of HKBP Nommensen, Indonesia Nina HowardEditorial AssistantInternational Journal of English and Cultural StudiesRedfame Publishing9450 SW Gemini Dr. #99416Beaverton, OR 97006-6018, USAWebsite: http://ijecs.redfame.com

Psychosocial functionning in euthymic bipolar patients

IntroductionBipolar disorder (BD) is a chronic, recurring illness that can lead to serious disruptions in functioning.ObjectivesTo evaluate functionning in this population and to explore the relationship with socio-demographic and clinical features of BD.MethodsThis is a descriptive and analytical cross-sectional study including patients with BD (DSM V) in euthymia, followed on an ambulatory basis to the Mood Disorders Unit of the Psychiatry A Department at Hedi Chaker Hospital University of Sfax between January and April 2019. Patients were considered euthymic if they scored less than 7 on the Young Mania (YMRS) rating scale and less than 8 on the Hamilton Depression scale (HDRS-17). The Short Function Evaluation Test (FAST scale) was used to evaluate functionning. Global functional impairment is defined by a total FAST score&gt;11.ResultsWe recruited 62 patients with a mean age of 45.65 years (SD=13.3) and a sex ratio of 1.13. 88.7% of patients were followed for BD I and 11.3% for BD II. The mean age of onset was 29.37 years (SD=11.6). The mean numbers of manic and depressive episodes were respectively 3.73 (SD=3.8) and 2.48 (SD=2.9). The mean FAST score was 28.97 (SD=15). Overall impairment was observed in 85.5% of patients. Impaired functionning was significantly more frequent in patients with a history of surgery (p=0.046), in those with a higher number of depressive episodes (p&lt;0.001) and in subjects with partial remission (p=0.01).ConclusionsThus, the treatment should target not only the improvement of symptoms but also the reduction of the incapacity of patients.

Internalized stigma, depression and quality of life in schizophrenia

IntroductionPeople with a schizophrenia experience higher levels of stigma.ObjectivesOur aim was to explore the relationship between internalized stigma, depression and quality of life (QoL) in these patients.MethodsThis is a cross-sectional and analytical study including 37 stabilized patients with schizophrenia or schizoaffective disorder followed up in the outpatient psychiatry department at Hedi Chaker hospital university of Sfax, between August and October 2019. The Internalized Stigma of Mental Illness scale (ISMI-29) was used to assess internalized stigma and its five dimensions. We used the Quality of Life Enjoyment and Satisfaction Questionnaire (Q-LES-Q-SF) to assess QoL and the Calgary Depression Scale (CDS) to evaluate depression.Results73% of these patients were followed for schizophrenia and 27% for schizoaffective disorder. The global mean score of ISMI was 71.95. The mean scores of alienation, stereotype endorsement, perceived discrimination, social withdrawal and stigma resistance were 15.16, 16.54, 12.95, 15.65 and 11.38, respectively. The Q-LES-Q-SF mean score was 65.51. According to CDS, 18.9% of patients had depression with a mean score of 2.27. Internalized stigma scores (global and the five dimensions scores) were significantly and negatively associated with QoL enjoyment satisfaction score (respective p: p&lt;0.001;p&lt;0.001; p=0.004; p&lt;0.001; p&lt;0.001; p&lt;0,001; p&lt;0.001). Global ISMI score and the four first dimensions scores were positively associated with depressive patients (respective p: p=0.002, p&lt;0.001, p=0.025, p=0.001 and p=0.003) while stigma resistance was negatively correlated with depression (p&lt;0.001).ConclusionsOur results confirmed that internalized stigma is associated with impaired QoL and depression in stabilized patients with schizophrenia-spectrum diagnosis.