Cystic echinococcosis (Echinococcus granulosus sensu lato infection) in Tunisia, a One Health perspective for a future control programme.

The emergence of pandemics with dramatic consequences for human health has obscured endemic diseases that continue to pose a problem for human and animal health in several regions of the world. Among these diseases, cystic echinococcosis, a zoonotic parasitic infection caused by a group of cestodes, Echinococcus granulosus sensu lato, remains a real human and animal health problem in several regions of the world, including the Mediterranean Basin. Despite the implementation of a number of governmental control programmes using several tools (dog treatment, meat inspection, etc.), this infection is still highly prevalent in North Africa. Here we present a review of the epidemiology of cystic echinococcosis in Tunisia, an analysis of the constraints limiting the effectiveness of the control programmes implemented, and finally argue for the use of the One Health framework to improve the effectiveness of future programmes.

Navigating the Factors Affecting Functional Impairment in Spondyloarthritis.

Objectives: This study aimed to assess the predictive factors of functional impairment in spondyloarthritis (SpA) patients assessed with bath ankylosing spondylitis functional index (BASFI) and Lequesne Index (LI). Methods: This retrospective study was conducted at the Rheumatology Department of Mohamed Kassab Institute of Orthopedics, Manubah, Tunisia, and collected data from 2008 to 2019 over a period of 4 months (August to November 2019). Socio-demographic and disease-related data of SpA patients were collected. Disease activity was assessed using the bath ankylosing spondylitis-global score (BASG-s) and the bath ankylosing spondylitis disease activity index (BASDAI). The spinal mobility was evaluated by the bath ankylosing spondylitis metrology index (BASMI). Structural progression was evaluated with the bath ankylosing spondylitis radiologic index (BASRI) and modified stoke ankylosing spondylitis spine score (mSASSS). A multivariate analysis was done to search for predictive factors associated with BASFI and LI. Results: A total of 263 patients were included. The mean age was 38.9 ± 12.7 years and the gender ratio was 2.7. The mean age of onset of SpA was 27.6 ± 10.8 years and disease duration was 11.3 ± 9.5 years. Occupation was significantly associated with BASFI and LI scores. A significant functional impact was notably correlated with a long duration of the disease. The two scores were correlated with a limitation of spinal mobility (BASMI), a greater disease activity (BASDAI and erythrocyte sedimentation rate) and a greater impact of the disease on health status (BASG-s). Significant functional impairment was also correlated with structural impairment (mSASSS, BASRI and sacroiliitis grade). The variables independently related to BASFI were the mSASSS score and the BASDAI. The variables independently related to LI were profession (unemployed subjects had higher scores), the mSASSS score and the BASMI. Conclusion: Occupation, disease activity, mobility and structural progression predicted functional impairment in Tunisian SpA patients.

Knowledge of Tunisian physicians about electronic cigarettes.

INTRODUCTION: The electronic cigarette is a new-generation smoking product whose mechanism of use could, in theory, minimize adverse health effects. AIM: Determine the knowledge and perceptions of a sample of Tunisian doctors regarding electronic cigarettes. METHODS: We conducted a descriptive cross-sectional study over a two-month period with a sample of Tunisian doctors. We used an online self-questionnaire on physicians' knowledge and perceptions of e-cigarettes. RESULTS: Data were obtained from 216 physicians. Of the participants, 97.2% were familiar with e-cigarettes, 56.5% reported low knowledge, and 83.4% expressed motivation to learn more about e-cigarettes. Overall, 83.8% of doctors felt that electronic cigarettes are harmful to the user's health. Use of this product would increase the risk of cancer according to 73.1% of participants, the risk of cardiovascular disease according to 68.5% of participants, and the risk of chronic lung disease according to 79.2% of participants. The perception of e-cigarettes as harmful to the user's health was associated with the physicians' medical specialty (p=0.032). The recommendation of e-cigarettes as a smoking cessation tool was negatively correlated with addictology training (p=0.027). CONCLUSIONS: Physicians' knowledge of electronic cigarettes is heterogeneous, reflecting the current lack of information and consensus.

A Knowledge, attitude and practice (KAP) study on sheep owners regarding fasciolosis in northwest of Tunisia.

Fasciolosis is a worldwide zoonotic snail-borne infection that affects ruminants, it causes high economic losses among livestock. A participatory epidemiological survey was conducted on 204 sheep owners of Sejnane region (District of Bizerte, Northwest Tunisia) to assess their knowledge, attitude and practice regarding fasciolosis. All interviewed sheep owners are aware of this parasitic infection (100%, 204/204), among them, 81% (165/204) reported history of clinical cases in their sheep flocks. According to 33.73% (113/335) of them, sheep get infected by fasciolosis mainly by grazing in wet areas, 79.9% (163/204) of these farmers think that wet climate is the most favourable for the infection. Weight loss (28.40%, 121/426) and submandibular oedema (20.42%, 87/426) are the main clinical signs of fasciolosis cited by interviewed sheep owners and the majority of them (98.53%; 201/204) confirmed that fasciolosis causes significant economic losses. Fasciolosis infection persists in Sejnane region despite the use of antiparasitic drugs, this is due mainly to the fact that animals graze in moist grass (39.88%, 132/331). Treat animals (51.47%, 193/375), prohibit grazing on moist grass (15.20%, 57/357), prohibit grazing on wet soils (14.33%, 53/357) and avoid pastures (10.93%, 41/357) are the main prevention measures cited by interviewed sheep owners. Only 18,14% (37/204) of responders knew that fascioliasis is a zoonotic disease. These results could be considered by animal health decision makers and field veterinarians when implementing control programmes in order to increase breeders' knowledge of fasciolosis.

[Retrospective study of 60 cases of uterine rupture at the Maternity Center of Monastir, Tunisia]. / Etude rétrospective sur 60 cas de rupture utérine du centre de maternité de Monastir, Tunisie.

Uterine rupture is a life-threatening obstetric complication. The purpose of this study was to investigate the epidemiological features, maternal and foetal prognosis and different treatment options for uterine rupture in healthy and scarred uteri. We conducted a retrospective monocentric descriptive and analytical study of 60 cases of uterine rupture collected in the Department of Gynaecology-Obstetrics of the Center of Maternity and Neonatology, Monastir, from 2017 to 2021. Patients were classified according to the presence or absence of a uterine scar. Sixty patients were enrolled in the study. The majority of cases of rupture occurred in patients with scarred uterus (n=55). The most common clinical sign was abnormal foetal heart rate. No maternal deaths were recorded and perinatal mortality rate was 11%. Mean BMI, fetal macrosomia rate and mean parity were significantly higher in the healthy uterus group than in the scarred uterus group (p=0.033, 0.018, and 0.013, respectively). The maternal complications studied (post-partum haemorrhage, hysterectomy, blood transfusion, prolonged hospitalisation) were significantly more frequent in patients with unscarred uterine rupture (p=0.039; p=0.032; p=0.009; p=0.025 respectively). Uterine rupture is a life-threatening obstetrical event for the foetus and the mother. Fetal heart rate abnormality is the most common sign associated with uterine rupture. Management is based on conservative treatment in most cases. Patients with scarred uterus have a better prognosis.

[Prevalence and predictors of post-traumatic stress disorder in road traffic accidents]. / Prévalence et facteurs prédicteurs des troubles post-traumatiques chez les accidentés de la voie publique.

Introduction: trauma-related disorders following a road accident have both a health and an economic impact. Methods: we conducted a prospective study to determine the prevalence of these disorders, and to identify risk factors in subjects victims of road accidents and hospitalized in the Department of Orthopedic Surgery and Traumatology of the University Hospital Center of Sfax-Tunisia. Results: a total of sixty-ten subjects were included in this study. The prevalence of acute stress disorder was 37.1% and was associated with female sex, low educational level, previous medical and surgical history, passivity during the accident, severity of injuries and the presence of anxious and depressive symptoms. Post-traumatic stress disorder was observed in 40% of subjects and was associated with urban residential environment, passivity during the accident and anxious and depressive symptoms. Low scores for functional coping strategies and high scores for dysfunctional coping strategies were significantly associated with both disorders. Low educational level, urban residential environment, high levels of anxiety and depression, and denial coping strategy appear to be independent risk factors for acute stress and post-traumatic stress disorder. Conclusion: It is therefore important to determine the profile of people at greater risk of post-traumatic stress disorder, to enable early diagnosis in victims of road accidents.

Predictive Factors for Successful Smoking Cessation in Tunisian Smokers, Sousse-Tunisia: 2015-2020.

OBJECTIVE: Since 2009, the unit of smoking cessation at Sahloul University Hospital - Tunisia was founded. In this context, the objective of our study was to determine the factors associated with smoking cessation in Tunisian smokers. METHODS: It was a descriptive prospective study over five-years-period 2015-2020. We included all patients who willingly came to the anti-smoking consultation of the Sahloul University hospital Sousse Tunisia. Data were collected during the consultation of all patients. We proceeded to a univariate and then multivariable analysis to identify the predictive factors of smoking cessation. RESULTS: Over 5 years, we included 450 patients, mainly males (91.3%). The average age of the consultants was 46 ±15.58 years. The average age of the first cigarette among our patients was 16.83± 4.34 years. The likelihood of smoking cessation was higher among males (p=0.004, OR=9.708), patients attending minimum 3 anti-smoking consultations (p<10-3, OR=5.714), patients benefiting from nicotine replacement therapy (p=0.034, OR=2.123), with high motivation score for smoking cessation (p=0.001, OR=1.980) and with an advanced age of the first cigarette (p<10-3, OR=1.096). However, the likelihood of smoking cessation was lower among coffee and alcohol consumers (p=0.002, OR=0.252) and smokers with less than 5 years smoking habit (p=0.011, OR=0.069). CONCLUSION: Although the decision to stop smoking is a personal one, it requires medical and psychological support as highlighted by our findings. Our study showed that assiduity and medical assistance for tobacco cessation increase smokers' chances of quitting.

Incidence and risk factors of post COVID-19 syndrome: a Tunisian cohort study.

BACKGROUND: It has become increasingly clear that SARS-CoV-2 infection can lead to persistent physical and mental health problems lasting weeks or months, requiring prolonged periods of clinical care and increasing the burden on the healthcare system. This phenomenon, known as post COVID-19 syndrome (PCS), is a relatively new condition, its incidence is still unclear and differs between studies. OBJECTIVES: In this cohort study, we aimed to estimate the incidence of PCS and to identify its risk factors in the Tunisian population. METHODS: This is a prospective cohort study that enrolled patients diagnosed with COVID-19 from the triage unit of the University Hospital of Monastir, Tunisia. between April 2021 and June 2022. Patients were contacted by phone for a follow-up evaluation of PCS 12- weeks after the diagnosis date. RESULTS: A total of 1451 individuals diagnosed with COVID-19 during the study period, responded to the follow-up evaluation after 3 months. The incidence of PCS was found to be 44.03% (95% CI [41.47; 46.58]), with fatigue being the most common symptom (21.5%), followed by cognitive impairment (10.3%), including memory loss and difficulty concentrating. Multivariate analysis revealed that the main associated factors to PCS were female gender (RR = 1.54; CI95% [1.30 - 1.82]), pre-existing comorbidities (RR = 1.30; CI95% [1.10 - 1.52]), duration of acute COVID-19 illness (days) (RR = 1.02; CI95% [1.01 - 1.03]), hospitalization (RR = 1.27; CI95% [1.05 - 1.53]), number of COVID-19 episodes (RR = 1.46; CI 95% [1.28 - 1.67]) and patients having receive two or more doses of vaccine prior to COVID-19 infection (RR = 0.82; CI95% [0.70 - 0.96]). CONCLUSION: Our study allowed to estimate the incidence and identify risk factors of PCS. Recognizing these factors could help to better understand the underlying mechanisms and guide interventions for prevention and management of this condition.

What constitutes an obstructive ventilatory impairment in a pediatric population? A study design.

INTRODUCTION: There is no clear consensus as to what constitutes an obstructive ventilatory impairment (OVI) in pediatric populations. AIM: To determine the percentage of children/adolescents having an OVI among those addressed for spirometry after taking into account the definitions advanced by some international scholarly societies [British Columbia (BC), British thoracic-society (BTS), Canadian thoracic society (CTS), European respiratory society and American thoracic society (ERS-ATS), global initiative for asthma (GINA), Irish college of general practitioners (ICGP), national asthma council (NAC), national institute of clinical excellence (NICE), Société de pneumologie de langue française, Société pédiatrique de pneumologie et allergologie (SPLF-SP2A), and South African thoracic society (SATS)]. METHODS: This bi-centric cross-sectional study involves two medical structures in Sousse/Tunisia, and will encompass children/adolescents aged 6-18 years. A medical questionnaire will be administered, clinical and anthropometric data will be collected, and the spirometric data will be measured by two spirometers. The following six definitions of OVI will be applied: i) GINA: Forced expiratory volume in 1 second (FEV1) < 80% and a FEV1/forced vital capacity (FVC) ≤ 0.90; ii) ICGP: FEV1/FVC < 0.70; iii) ERS-ATS or BTS or SATS or SPLF-SP2A or NAC: FEV1/FVC z-score < -1.645; iv) NICE: FEV1/FVC < 0.70 or FEV1/FVC z-score < -1.645; v) CTS: FEV1/FVC < 0.80 or a FEV1/FVC z-score < -1.645; and vi) ERS: "FEV1 z-score or FEV1/FVC z-score" < -1.645 or "FEV1 or FEV1/FVC" < 0.80. EXPECTED RESULTS: The percentage of children/adolescents having an OVI will significantly vary between the six definitions. CONCLUSION: The frequency of OVI in a pediatric population will depend on the definition chosen.

Retrospective Analysis of Clinical Characteristics and Disease Outcomes in Children and Adolescents Hospitalized Due to COVID-19 Infection in Tunisia.

Due to low susceptibility of coronavirus disease of 2019 (COVID-19) in children, limited studies are available regarding COVID-19 in the pediatric population in Tunisia. The current study evaluated the incidence, clinical characteristics, and outcomes of severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) infection among children hospitalized at Béchir Hamza Children's Hospital. A retrospective cohort analysis was conducted using the hospital database between March 2020 and February 2022 with children aged ≤15 years with SARS-CoV-2 infection (confirmed by RT-PCR). A total of 327 COVID-19 hospitalized patients with a mean age of 3.3 years were included; the majority were male. Neurological disease (20%) was the most common comorbidity, while fever (95.3%) followed by cough (43.7%) and dyspnea (39.6%) were the most frequent symptoms reported. Severe disease with oxygen requirement occurred in 30% of the patients; 13% were admitted in the Intensive Care Unit. The overall incidence rate of COVID-19 hospitalization (in Tunis governorates) was 77.02 per 100,000 while the inpatient case fatality rate was 5% in the study population. The most prevalent circulating variant during our study period was Delta (48.8%), followed by Omicron (26%). More than 45% of the study population were <6 months and one-fourth (n = 25, 26.5%) had at least one comorbidity. Thus, the study findings highlight the high disease burden of COVID-19 in infants.

Epidemiological update of cystic echinococcosis in livestock and assessment of practices related to its control in the Mediterranean area.

Cystic echinococcosis (CE), caused by the tapeworm Echinococcus granulosus, is a zoonotic parasitic disease that still represents a serious threat to human and animal health worldwide. The Mediterranean basin is recognized as one of the major hotspots of CE due to several factors, including the presence of diverse intermediate host species as well as socio-economic and cultural conditions of local communities. This study aims to take a closer look at epidemiological data on CE in the Mediterranean area and assess the knowledge attitudes and practices of shepherds towards this disease in four countries (Algeria, Greece, Italy and Tunisia), highly endemic for CE, with the final goal of identifying highly endemic risk areas and practices in use which might potentially allow the persistence of E. granulosus infection in these areas. To update the epidemiological scenario of CE in Mediterranean areas, a comprehensive review of peer-reviewed literature on CE prevalence data published during the 2017-2023 period was carried out and, through a geographical information system (GIS), a map displaying the current CE distribution in the Mediterranean area was generated. In addition, a questionnaire survey was conducted through in-depth interviews of the farmers to collect information on their management system as well as knowledge attitudes and practices towards CE. From the farmer-participatory survey some risky practices emerged including the non-regular deworming of dogs or the use of ineffective drugs or dosing, as well as the provision of uncooked animal viscera to dogs. Finally, lower levels of knowledge and awareness of the disease was observed among farmers from North Africa compared with those of European countries. In conclusion, the results obtained highlight that CE is still a very serious problem in Mediterranean areas and increased efforts are needed to promote awareness among farmers and to turn research results into policy in order to reduce the spread of this disease, according to the One Health perspective.

Publication of pediatric theses defended at the Tunis Faculty of Medicine: A 15-year study.

INTRODUCTION: The valorisation of thesis through its publication is necessary to enhance its visibility. Few data exist concerning the characteristics of theses defended at the Tunis faculty of medicine. AIM: Examine the publication rate of pediatric theses and identify factors associated with an increased publication rate. METHODS: We conducted a cross-sectional descriptive bibliometric study of pediatric theses defended at the Faculty of Medicine of Tunis over 15 years, from 2006 to 2020. Theses were retrieved from the catalog of the faculty library. Publications had been searched in databases "Pub Med ", and "Google Scholar" until December2021. RESULTS: The study involved 235 pediatric theses. Sixty-eight theses were published, representing 29% of the total. The main topics of published theses were neonatology (16%) and hematology (15%). The language of publication was French and English in 55% and 45% of cases, respectively. All publications in Q1 and Q2 journals were written in English. The only independent factor predicting publication of theses was the very honourable mention with congratulations of the jury and proposal for the thesis prize (p=0,007). CONCLUSION: Additional assessments will be necessary to identify the obstacles to the publication of theses.

Ischemic Stroke in Young Tunisian Adults.

INTRODUCTION: Ischemic Stroke in young adults is a real public health problem; it's a major cause of disability, alters quality of life and has a great socio-economic impact. AIM: determine risk factors and specify the etiology of arterial ischemic stroke in young Tunisian adults. METHODS: In this 5 years retrospective study (2015-2020), we included all young adults (18-50 years) admitted for arterial ischemic stroke (AIS). Risk factors were registered and analyzed. All patients were investigated using a standard protocol: biological tests, brain imaging, carotid ultrasound and cardiac assessment. Additional investigations were carried out at the discretion of the treating physician. The cause of ischemic stroke was classified according to the TOAST criteria. RESULTS: We collected 200 patients with AIS. The mean age was 41.37 years ± 6.99. Traditional vascular risk factors were observed in more than 1/4 patients. A definite cause of stroke was identified in 120 patients. Cardio-embolic causes were the most common among our patients (19%) followed by atherosclerosis of the large arteries (11.5%). Other determined etiologies were found in 27.5% of patients. The etiology remained unclear in 40% of cases: undetermined despite complete investigation in 17.5%, undetermined and incompletely investigated 14.5 % and more than one potential pathomechanisms in 8%. CONCLUSION: Through this study, we demonstrated the diversity of etiology of stroke in young Tunisian adults. Changes of lifestyle are responsible for the occurrence of the traditional risk factors at an early age. Rheumatic heart diseases remain a frequent cause of AIS in our area.

Occupational elbow musculoskeletal disorders in Tunisia: Epidemiology and socio-professional consequences.

INTRODUCTION: Musculoskeletal disorders (MSDs) are as the primary occupational disease (OD) in Tunisia. They can touch the elbow and cause occupational disability. AIMS: Describe the epidemiological and clinical characteristics of elbow MSDs recognized in Tunisia, identify the factors associated with these MSDs and assess their socio-professional impact. METHODS: Retrospective descriptive study of elbow MSDs recognized as compensable OD by the Committees for the Recognition of Occupational Diseases of National Health Insurance Fund, in Tunisia, from 2012 to 2018. RESULTS: We collected 431 cases of elbow MSDs or 8.35% of all recognized MSDs and 11.8% of recognized MSDs during the same period. The average annual incidence was 4.3 cases. Patients had a mean age of 43.59 years and a clear female predominance (82.2%). The largest provider was the textile industry (60.6%). The average length of employment was 16.78 years. Biomechanical factors were repetitive movements (92.8%), forced movements (67.1%) and prolonged static posture (7.4%). These were lateral epicondylitis (79.1%), medial epicondylitis (14.2%) and ulnar nerve syndrome (10.7%). These pathologies were associated with other MSDs including carpal tunnel syndrome (25.8%). These MSDs were responsible for 15,342 days of lost work. The rate of permanent partial incapacity was 10.6% with a job loss in 15.63%. CONCLUSION: Elbow MSDs are responsible for heavy economic and socio-professional consequences justifying the implementation of a preventive strategy adapted within risk sectors.

Dynamics of SARS-CoV-2 antibodies after natural infection: insights from a study on Pasteur Institute of Tunis employees.

This study aimed to assess the kinetics of antibodies against the SARS-CoV-2, following natural infection in a cohort of employees of the Institut Pasteur de Tunis (IPT) and to assess the risk of reinfection over a 12-months follow-up period. A prospective study was conducted among an open cohort of IPT employees with confirmed SARS-CoV-2 infection that were recruited between September 2020 and March 2021. Sera samples were taken at 1, 3, 6, 9 and 12 months after confirmation of COVID-19 infection and tested for SARS-CoV-2-specific immunoglobulin G (IgG) antibodies to the spike (S-RBD) protein (IgG anti-S-RBD) and for neutralizing antibodies. Participants who had an initial decline of IgG anti-S-RBD and neutralizing antibodies followed by a subsequent rise in antibody titers as well as those who tested positive for SARS-CoV-2 by RT-PCR after at least 60 days of follow up were considered as reinfected. In total, 137 individuals were included with a mean age of 44.7 ± 12.3 years and a sex-ratio (Male/Female) of 0.33. Nearly all participants (92.7%) were symptomatic, and 2.2% required hospitalization. Among the 70 participants with three or more prospective blood samples, 32.8% were reinfected among whom 11 (47.8%) reported COVID-19 like symptoms. Up to 12 months of follow up, 100% and 42.9% of participants had detectable IgG anti-S-RBD and neutralizing antibodies, respectively. This study showed that humoral immune response following COVID-19 infection may persist up to 12 months after infection despite the potential risk for reinfection that is mainly explained by the emergence of new variants.

First detection of Rickettsia felis and Ehrlichia canis in the common bed bug Cimex lectularius.

Bed bugs, common blood-feeding pests, have received limited attention regarding their potential involvement in emerging pathogen transmission. This study aimed to investigate the main vector-borne bacteria within bed bugs collected from Tunisian governorates and to genetically characterize the identified species. Molecular screening was conducted on field-collected bed bug samples, targeting zoonotic vector-borne bacteria from the Anaplasmataceae family, as well as the genera Rickettsia, Ehrlichia, Bartonella, and Borrelia. A total of 119 Cimex lectularius specimens were collected and grouped into 14 pools based on sampling Tunisian sites. Using genus-specific PCR assays, DNA of Rickettsia and Ehrlichia spp. was detected in a single pool. Sequencing and BLAST analysis of the obtained partial ompB and dsb sequences from positive samples revealed 100% similarity with those of Ehrlichia canis and Rickettsia felis available in GenBank. Obtained partial sequences showed phylogenetic similarity to R. felis and E. canis isolates found in dogs and ticks from American and European countries. To the best of our knowledge, this study is the first to investigate bed bugs in Tunisia and to report the worldwide identification of R. felis and E. canis DNA in the common bed bug, C. lectularius. These findings highlight the need for further research to explore the potential role of bed bugs in the epidemiology of these vector-borne bacteria.

Delineating the evolutionary pathway to multidrug-resistant outbreaks of a Mycobacterium tuberculosis L4.1.2.1/Haarlem sublineage.

OBJECTIVES: We sought to capture the evolutionary itinerary of the Mycobacterium tuberculosis L4.1.2.1/Haarlem sublineage in northern Tunisia, where it caused a major multidrug-resistant (MDR) tuberculosis outbreak in a context strictly negative for HIV infection. METHODS: We combined whole genome sequencing and Bayesian approaches using a representative collection of drug-susceptible and drug-resistant L4.1.2.1/Haarlem clinical strains (n = 121) recovered from the outbreak region over 16 years. RESULTS: In the absence of drug resistance, the L4.1.2.1/Haarlem sublineage showed a propensity for rapid transmission as witnessed by the high clustering (44.6%) and recent transmission rates (25%), as well as the reduced mean distance between genome pairs. The entire pool of L4.1.2.1/Haarlem MDR strains was found to be linked to either the aforementioned major outbreak (68 individuals, 2001-2016) or to a minor, newly uncovered outbreak (six cases, 2001-2011). Strikingly, the two outbreaks descended independently from a common ancestor that can be dated back to 1886. CONCLUSIONS: Our data point to the intrinsic propensity for rapid transmission of the M. tuberculosis L4.1.2.1/Haarlem sublineage in northern Tunisia, linking the overall MDR tuberculosis epidemic to a single ancestor. These findings bring out the important role of the bacillus' genetic background in the emergence of successful MDR M. tuberculosis clones.

TTCT 1471 mutation in lysnuric protein intolerance: Clinical features of a Tunisian paediatric series.

INTRODUCTION: Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease. It is caused by a deficiency in cationic amino acid transport caused by mutations in SLC7A7 gene. AIM: To identify the clinical, diagnostic and therapeutic features of lysnuric protein intolerance. METHODS: This was a retrospective study conducted in the pediatric department of La Rabta Hospital over a period of 30 years (1992 to 2022). We included patients with clinical signs suggestive of lysinuric protein intolerance and orotic acid in the urine. RESULTS: We enrolled seven patients. The median age at disease onset was nine months. The median age at positive diagnosis was 21 months. Growth retardation, hepatosplenomegaly and haematological abnormalities were the main features of the disease. Hyperammonia and increased urinary orotic acid were present in all patients. Molecular biology revealed the del TTCT 1471 mutation in five patients. All patients were prescribed a low protein diet and citrulline supplementation. Complications of the disease were growth retardation (n=7), psychomotor or intellectual retardation (n=5), haemophagocytic lymphohistiocytosis (n=4) and osteoporosis (n=3). After a median follow-up of 11 years, six of our patients are still alive. One patient died from acute hyperammonemic encephalopathy. CONCLUSION: In this paediatric series, delays in diagnosis and treatment of LPI were responsible for long-term sequelae, particularly bone and neurological. The delTTCT1471 mutation appears to be the mutation of paediatric-onset forms in Tunisia. This mutation was not associated with pulmonary involvement, which is a prognostic factor and the main cause of death.

Consanguinty and its impact on health and genome dynamic: An example from Tunisia.

The genetic disease spectrum in Tunisia arises from the founder effect, genetic drift, selection, and consanguinity. The latter represents a deviation from panmixia, characterized by a non-random matrimonial choice that may be subject to several rules, such as socio-cultural, economic, or other factors. This shifts the genetic structure away from the Hardy-Weinberg equilibrium, increasing homozygous genotypes and decreasing heterozygotes, thus raising the frequency of autosomal recessive diseases. Similar to other Arab populations, Tunisia displays high consanguinity rates that vary geographically. Approximately 60% of reported diseases in Tunisia are autosomal recessive, with consanguinity possibly occurring in 80% of families for a specific disease. In inbred populations, consanguinity amplifies autosomal recessive disease risk, yet it does not influence autosomal dominant disease likelihood but rather impacts its phenotype. Consanguinity is also suggested to be a major factor in the homozygosity of deleterious variants leading to comorbid expression. At the genome level, inbred individuals inherit homozygous mutations and adjacent genomic regions known as runs of homozygosity (ROHs). Short ROHs indicate distant inbreeding, while long ROHs refer to recent inbreeding. ROHs are distributed rather irregularly across the genome, with certain short regions featuring an excess of ROH, known as ROH islands. In this review, we discuss consanguinity's impact on population health and genome dynamics, using Tunisia as a model.

Validation of Tunisian Arabic version of Pittsburgh Sleep Quality Index in non-clinical adolescents.

INTRODUCTION: Sleep quality is a complex phenomenon with quantitative and subjective aspects that vary during adolescence. The prevalence of sleep disorders is not known in Tunisia due to the lack of validated tools. AIM: To translate and validate the questionnaire Pittsburgh Sleep Quality Index (PSQI) into Tunisian Arabic in middle school students. METHODS: We translated the PSQI into Tunisian Arabic based on the translation back-translation method. We conducted a cross-sectional study on a sample of 560 adolescents. Exploratory factor analysis was performed to study construct validity. To test reliability, the global internal consistency of the scale was computed. RESULTS: The construct validity was verified by factor analysis, proving that a single factor explained 30.3% of the overall variance. This model produced a good factor load for all the components. The analysis of the reliability showed an acceptable internal consistency (Cronbach's alpha=0.6). CONCLUSION: The Arabic Tunisian version of the PSQI is a psychometrically valid measure. The PSQI could be useful for the detection and evaluation of symptoms of sleep disorders, as well as for further studies and researches about associated factors with poor sleep quality in adolescent and youth.