Search

Introduction: The psychiatric expertise, medical discipline in the legal system, is an act in which the expert must establish the existence of mental illness at the time of the offense and the latter results. Objective: Describe the socio-demographic profile of the subjects appraised in order to help to improve and clarify the mission of expertise. Materials and methods: Retrospective study, involving 120 subjects examined records within a forensic psychiatric assessment over a period ranging from January 2004 to May 2009. Socio-demographic data collected were processed using Microsoft Excel. Our results were compared with those of literature. Results: Our series consisted of 113 men and 7 women representing 94.1% and 5.9% (sex ratio F / M = 1/16). The average age was 34 years 2 months with a peak at 20-29 years (41% of cases). A solitary life characterized 70.0% of the subjects examined, with a predominance of single (64.2%). Educational level was relatively low and the employment situation was precarious for the majority of subjects with a frequency up to 35% without occupation. Conclusion: At the end of this study, we find that the socio-demographic and clinical profile of subjects appraised consistent with conventio. [Copyright &y& Elsevier]

Introduction: The elderly in general, and those with dementia in particular are more likely to be victims of abuse, neglect or self-neglect. These demented elderly, because of biological aging, psychological disorders of character, behavior and conduct are themselves sources of violence that may lead to medico-legal. The objectives of our work are to specify the profile of mentally ill elderly dementia and identify the characteristics of their medico-legal. Methodologie: Our work has focused on all patients older than 60 years hospitalized under the mode of office between 1995 and 2012 in the service of forensic Razi hospital according to article 29 of the law n° 92-83 of the third of August 1992 as amended by the law 2004-40 of 3 May 2004, following a non-legal place due to insanity within the meaning of the 38 article of the Tunisian Penal Code, and which the diagnosis of dementia was increased. Results: Our study included 7 patients, whose average age was between 65 and 90 years. The majority being married, having a low socioeconomic level. Acts forensic being uxoricides (2 cases), attempted murder (2 cases), attempted rape (1 case), violence against people (1 case), false and corruption (1 case). Almost all committed crimes against people associated with violence. The diagnosis of dementia was retained and all patients were referred to the neurology department for further explorations. The type of dementia was noted in 4 cases: mixed dementia, Alzheimer's disease, dementia due to Huntington's disease and dementia due to Parkinson's disease. [ABSTRACT FROM AUTHOR]

Introduction: Few scientific studies have been devoted to the study of crime among the mentally ill elderly, however, all the studies agree on the importance of recognizing risk factors associated with passage to forensic action in elderly patients. Aims: The objectives of our work are to clarify the sociodemographic, clinical and forensic characteristic of mental elderly patients who commit forensic acts. Methodologie: Our work has focused on all patients older than 60 years hospitalized under the mode of office between 1995 and 2012 in the service of forensic Razi hospital according to article 29 of the law n° 92–83 of the third of August 1992 as amended by the law 2004-40 of 3 May 2004, following a non-legal place due to insanity within the meaning of the 38 article of the Tunisian Penal Code. Results: Our study included 25 patients, their ages ranged between 60 and 90 years. They mostly had a low socio-economic level (64%), a low educational level (48%) and a marital status of married (64%). All patients had a neuropsychiatric disease: schizophrenia and other psychotic disorders in 48% of cases, dementia and Delirium nonspecific in 32% of cases, mood disorder in 16% of cases and mental retardation in 4% of cases. The medico-legal act was murder or attempted murder in 40% of cases, sexual crimes in 16% of cases, aggression against property in 16%, violence against people in 8% of cases and different offenses in the remaining cases. [ABSTRACT FROM AUTHOR]

Background: Key discoveries and innovations in the field of human genetics have led to the foundation of molecular and personalized medicine. Here, we present the Genome Tunisia Project, a two-phased initiative (2022-2035) which aims to deliver the reference sequence of the Tunisian Genome and to support the implementation of personalized medicine in Tunisia, a North African country that represents a central hub of population admixture and human migration between African, European, and Asian populations. The main goal of this initiative is to develop a healthcare system capable of incorporating omics data for use in routine medical practice, enabling medical doctors to better prevent, diagnose, and treat patients., Methods: A multidisciplinary partnership involving Tunisian experts from different institutions has come to discern all requirements that would be of high priority to fulfill the project's goals. One of the most urgent priorities is to determine the reference sequence of the Tunisian Genome. In addition, extensive situation analysis and revision of the education programs, community awareness, appropriate infrastructure including sequencing platforms and biobanking, as well as ethical and regulatory frameworks, have been undertaken towards building sufficient capacity to integrate personalized medicine into the Tunisian healthcare system., Results: In the framework of this project, an ecosystem with all engaged stakeholders has been implemented including healthcare providers, clinicians, researchers, pharmacists, bioinformaticians, industry, policymakers, and advocacy groups. This initiative will also help to reinforce research and innovation capacities in the field of genomics and to strengthen discoverability in the health sector., Conclusions: Genome Tunisia is the first initiative in North Africa that seeks to demonstrate the major impact that can be achieved by Human Genome Projects in low- and middle-income countries to strengthen research and to improve disease management and treatment outcomes, thereby reducing the social and economic burden on healthcare systems. Sharing this experience within the African scientific community is a chance to turn a major challenge into an opportunity for dissemination and outreach. Additional efforts are now being made to advance personalized medicine in patient care by educating consumers and providers, accelerating research and innovation, and supporting necessary changes in policy and regulation., (© 2024. The Author(s).)

Aim: The study aimed to compare long-term vaccine-induced humoral immunity following different vaccines regimens., Methods: Anti-S-RBD total antibody levels were measured in blood samples of 167 participants nearly 6 months post-vaccination. Participants had received one; two or four doses of Pfizer vaccine or who received a third dose of mRNA vaccine (Pfizer) and primed with mRNA (Pfizer/Moderna), adenoviral (AstraZeneca/Jonson & Jonson) or inactivated (CoronaVac/Sinopharm) vaccine., Results: Among all vaccination regimens, fourth dose of Pfizer achieved the highest S-RBD antibody titers. Nevertheless, the third dose of mRNA vaccine primed with adenoviral vaccine achieved the lowest titers of S-RBD antibody. Notably, the group that received a third dose of mRNA primed with two doses of mRNA vaccine exhibited higher S-RBD antibody compared to groups inoculated with a third dose of mRNA and primed with inactivated or adenovirus vaccine., Conclusion: Our data showed the superiority of three mRNA vaccinations compared to third heterologous vaccine (inactivated of adenoviral) including mRNA as booster in terms of humoral immunogenicity. Our findings supporting the use of additional booster shot from a more potent vaccine type such as mRNA vaccines. Nevertheless, due to the limited number of subjects, it is difficult to extrapolate the results of our study to the whole of Tunisian population. Future studies should investigate a larger cohort and other potential correlates of protection, such as cellular immunity and how it is affected by different vaccination schemes after long-term post-vaccination.

Background: Tropical theileriosis, Theileria annulata infection, is the most prevalent summer disease in Tunisia. It is transmitted by Hyalomma scupense, a two-host tick known to be endophilic., Objectives: The present study aimed to estimate the infection prevalence of cattle by T. annulata in two districts from central Tunisia., Methods: Blood samples collected from 270 Holstein cattle from the Sidi Bouzid (140 samples) and Kasserine districts (130 samples) were analysed by Giemsa staining and T. annulata-specific PCR., Results: In both regions, PCR revealed a prevalence of 32.6%. This was significantly higher than the 6.3% prevalence obtained by Giemsa staining blood smears (p < 0.001). Giemsa staining also revealed a low parasitaemia of 0.05%. The PCR-based prevalence was not statistically different between the two districts (31.4 ± 0.04 and 33.8 ± 0.04% in Sidi Bouzid and Kasserine districts, respectively, p = 0.6). On the contrary, the results of blood smear examination (2.85 and 10% in Sidi Bouzid and Kasserine, respectively) differed significantly between the two sampling sites (p = 0.01). There was no evidence of a statistically significant difference between the overall molecular infection prevalence when the samples were segregated based on animals' age or gender (p = 0.1 and 0.2, respectively) and a similar trend was observed for Giemsa staining. Ten PCR amplicons of the Tams1 gene (721 bp) were subsequently sequenced from the two regions. The phylogenetic analyses showed 100% similarity between all sequences. The unique conserved Tams1 sequence was deposited in GenBank under the accession number OP428816 and used to infer its phylogenetic relationships with those available in the GenBank repository., Conclusions: This is the first report of the presence of T. annulata in this region of central Tunisia which has no history of tropical theileriosis. Priority areas for future studies include understanding the origin of these T. annulata-positive animals in a region where the presence of a known natural vector tick, H. scupense, has not been reported. Given that the disease severely constrains cattle productivity, it would also be worthwhile to investigate if other potential vectors for T. annulata, such as Hyalomma dromedarii, are present in the arid regions., (© 2023 The Authors. Veterinary Medicine and Science published by John Wiley & Sons Ltd.)

Introduction: Distal renal tubular acidosis (dRTA) is a rare genetic disorder due to the incapacity of the α intercalated cells to excrete protons in the collecting duct. This impaired distal acidification of urine leads to a chronic hyperchloremic metabolic acidosis with a normal plasma anion gap, hypokalemia, and hypercalciuria with hypocitraturia causing nephrocalcinosis. Primary dRTA is inherited either as an autosomal dominant (SLC1A4 gene) or autosomal recessive trait (ATP6V0A1/ATP6V1B1 genes)., Aim: To analyze the genotype-phenotype correlation of dTA in Tunisia., Methods: In this study we present all available data of patients followed in our center for dRTA over the last 28 years and who had a genetic study. This was a retrospective descriptive study from January 1991 to December 2018, conducted in the Pediatrics Department of the Charles Nicolle Hospital in Tunis., Results: Twenty-five cases of dRTA were collected and were offered genetic analysis to confirm the diagnosis. The molecular mutation was confirmed in 13 patients of whom 11 had homozygous mutations in ATP6V1B1(G1) and 2 had homozygous mutations in ATP6V0A4(G2). Median age of diagnosis was 8.9 months. Severe growth retardation was documented in nine children with mutations in ATP6V1B1, in eight children with no genetic mutation and in the two patients with a mutation in ATP6V0A4. All children were found to have metabolic acidosis at initial presentation. Hypokalemia was found in 19 children. All patients were polyuric. Twenty-two patients had nephrocalcinosis (88%). The treatment was based on alkali prescription and substitution of potassium chloride. Sensorineural hearing loss (SNHL) was documented in 12 children. At the last consultation, 14 patients had chronic kidney disease (CKD) stage 2 or higher, 8 of whom were in the group with negative genetic analysis., Conclusion: According to the early onset in patients, the recessive mode seems to be the mode of transmission in Tunisia. dRTA was long considered to not affect renal function, but we note a decline in eDFG.

Epizootic hemorrhagic disease (EHD) is a Culicoides -borne disease of domestic and wild ruminants caused by EHD virus (EHDV). This virus circulates in multiple serotypes. In late September 2021, a novel strain belonging to EHDV-8 was reported in cattle farms in Central-Western Tunisia, and in the fall of 2022, the same virus was also detected in Italy and Spain. In the present study, we described EHDV-8 occurrence in deer and, a preliminary identification of the potential Culicoides species responsible for virus transmission in selected areas of Tunisia. EHDV-8 was identified in deer carcasses found in 2021 and 2022 in the national reserve of El Feidja, Jendouba, Northwestern Tunisia, and isolated on cell culture. Instead, insect vectors were collected in October 2021 only in the areas surrounding the city of Tozeur (Southern Tunisia) where EHDV-8 cases in cattle were confirmed. Morphological identification showed that 95% of them belonged to the Culicoides kingi and Culicoides oxystoma species and both species tested positive for EHDV-8 RNA. C. imicola was not detected in this collection and EHDV-8 RNA was not evidenced in vector pools collected in 2020, prior to official EHDV-8 emergence. EHDV whole genome sequences were also obtained directly from infected biological samples of deer and positive vectors. EHDV-8 sequences obtained from deer and vectors share a nucleotide identity ranging from 99.42 to 100% and amino acid identity from 99.18 to 100% across all genome segments with the EHDV-8/17 TUN2021 reference sequence.

This study was designated to investigate the chemical composition, the antifungal activity and antibiofilm properties of Glycyrrhiza foetida (Desf.) growing in Tunisia and recognized for its pharmacological and therapeutic effects. The chemical analysis of essential oil samples prepared via hydrodistillation of the aerial parts was performed by gas chromatography-mass spectrometry (GC-MS). Moreover, the antifungal activity of G. foetida essential oil was developed against three dermatophyte strains, two molds and Candida spp. yeasts using the broth microdilution assay. According to the percentages, the main constituents are δ-cadinene (13.9%), (E)-caryophyllene (13.2%) and γ-cadinene (8.3%). The efficiency of the essential oil in inhibiting Candida albicans biofilms formation was also evaluated in terms of inhibitory percentages. The results showed that C. albicans and Microsporum canis were the most sensitive to G. foetida essential oil with a complete inhibition at 0.4 and 0.2 mg ml -1 , respectively. Candida albicans biofilm development was reduced by 80% by the volatile oil at a concentration of 0.8 mg ml -1 . The essential oil of G. foetida has a promising role in the control of fungal agents with medical interest and in inhibition of Candida biofilm development., (© 2023 John Wiley & Sons Ltd.)

The current study was conducted to investigate the chemical composition of Quercus canariensis flour acorns extracts as well as its biological activities in regards to the growing area using spectrophotometric and chromatographic techniques. The phenolic profile was composed of 19 compounds identified through HPLC-DAD analysis. Coumarin was the most abundant compound quantified in BniMtir, Nefza and ElGhorra and gallic (12.58-20.52 %), syringic (4.70-7.64 %) and trans-ferulic (2.28-2.94 %) acids were the abundant phenolic acids while kaempferol was the major flavonoid compounds quantified only in Quercus canariensis growing in BniMtir. On the other hand, Ain Snoussi acorn extract was characterized by its high content in luteolin-7-O-glucoside (58.46 %). The in-vitro antioxidant activities of the studied extracts were investigated and the results showed that Nefza ethanolic extract's has the highest activities. A bactericidal effect against Staphylococcus aureus was observed only by Elghorra population. On the other hand, Ain Snoussi acorn extract was efficient to inhibit growth of pathogenic bacteria, mentioned the highest activity against Escherichia coli. These results is the first study highlighted that zeen oak acorns are an excellent source of natural antioxidants and antibacterial compounds related to their lysozyme activity which could be exploited in the pharmaceutical and food sectors., (© 2023 Wiley-VHCA AG, Zurich, Switzerland.)

Introduction: Since December 2019, a novel coronavirus (SARS-CoV-2) has triggered a global pandemic with a heavy medical and societal-economic toll. The health consequences were not similar during the successive waves that affected several countries. The aim of our study was to compare the sociodemographic, clinical and evolutionary features of COVID-19 patients hospitalized at the Military Hospital of Tunis (HMPIT) during the 2 nd and 3 rd waves that affected the country., Patients and Methods: Observational prospective study involving 1,527 COVID-19 patients hospitalized at HMPIT over 11 months, divided into two periods: from July 2020 to December 2020 called the second wave (V2) and from January 2021 to May 2021 called the third wave (V3). We compared the epidemiological data, the clinical form and the evolution of the patients for each period., Results: The number of hospitalized patients was 636 during V2 compared to 891 during V3. Average age was 63.5 ± 15.3 years during V2 versus 65.8 ± 17.8 years during V3 (P = not significant [NS]). The percentage of young adults [18-40 years] was 6.5% during V2 compared to 6.7% during V3 (P = NS). The gender ratio (M/F) was 1.59 for V2 and 1.42 for V3 (P = NS). Comorbidities were present in 65% of V2 patients and 66.3% of V3 patients (P = NS), with hypertension being the most prevalent one in both groups (47.2% for V2 versus 44.9% for V3; P = NS), followed by overweight, dyslipidemia and diabetes (33% for V2 versus 39.3% for V3; P = 0.012). The median duration between symptoms onset and hospitalization was 7 days [5-10] during V2 versus 8.5 days during V3 [5-12] (P = 0.0004). The severe clinical form was present in 49% of patients admitted during V2 compared to 34.8% during V3 (P < 10 -3 ). The critical form represented 18.6% of cases during V2 against 16.8% during V3 (P = NS). The average hospital length of stay in COVID units (outside of intensive care unit) was 8.4 ± 5.4 days during V2 and 9.8 ± 5.7 days during V3. The average length of stay was significantly longer for the intensive care unit (11.3 ± 3.4 days for V2 versus 13.8 ± 3.9 days for V3; P = 0.01). The case fatality rate was 24.5% during V2 and 20.7% during V3 (P = NS). Median age of death was 70.2 years [42-88] during V2 and 70.4 years [22-96] during V3 with 2 patients less than 40 years of age (1%) for the latter period. The gender ratio (M/F) of deceased patients was 3.21 for V2 and 1.5 for V3 (P = 0.001). The case fatality rate was higher in the intensive care unit (65.4% for V2 versus 69.7% for V3; P = NS). Causes of death were dominated by ARDS (acute respiratory distress syndrome) for both periods (55.1% for V2 versus 70.8% for V3; P = 0.002), followed by septic shock (12.8% for V2 versus 10.8% for V3; P = NS) and multi-organ failure (9.6% for V2 versus 7.0% for V3; P = NS)., Conclusion: This study revealed a decrease in severe and critical clinical forms during the 3rd wave, as well as a decrease in the case fatality rate compared to the previous wave, due to improved management and vaccination. On the other hand, the percentage of ARDS was significantly higher during this wave probably related to the beginning of circulation in our country of the Delta variant causing more severe clinical cases., (Copyright © 2022 SFMTSI.)

The late Middle Pleistocene, starting at around 300 ka, witnessed large-scale biological and cultural dynamics in hominin evolution across Africa including the onset of the Middle Stone Age that is closely associated with the evolution of our species-Homo sapiens. However, archaeological and geochronological data of its earliest appearance are scarce. Here we report on the late Middle Pleistocene sequence of Wadi Lazalim, in the Sahara of Southern Tunisia, which has yielded evidence for human occupations bracketed between ca. 300-130 ka. Wadi Lazalim contributes valuable information on the spread of early MSA technocomplexes across North Africa, that likely were an expression of large-scale diffusion processes., (© 2022. The Author(s).)

Background: Despite the abundance of studies reporting the prevalence of women's sexual abuse all over the world, there is a real lack of such reports in developing countries in general and Arab-Muslim societies in particular. However, due to the little number of published studies in Tunisia, and the absence of a national database, data on female sexual assaults are still underestimated, which is a gap that needs to be filled in order to make specific preventive actions. We aim to identify the pattern of female victims of sexual abuse in the governorate of Kairouan (Tunisia) in order to provide recommendations for prevention., Methods: Retrospective data were collected on all-female sexual assault victims, particularly rape, presented to the Department of Forensic Medicine of the University Hospital Ibn El Jazzar of Kairouan (Tunisia), during an 8-year period, from 2009 to 2016., Results: Two hundred and sixteen victims were included. Age ranged from 3 to 82 years with a mean age of 20.4 years. Victims were single in 84.3%, unmarried in 90.7% and they lived in rural areas in the majority of cases. Rape was committed by a single individual in 94.9% of cases, and the assailant was a stranger in only 26.8%. The assault occurred most frequently in the assailant's home (73.6%) or the public places (11.6%). Evidence of recent acute general body trauma was found in 41.2% of the victims, and the most common injuries were located on the thigh, upper arm, and chest. In 28.1% of the cases, injuries were seen in the face and the neck. Genital examination showed that 188 victims (87%) had a tear in the hymenal membrane and only 13% of victims had intact hymenal membrane. A complacent hymen was noted in 2.3%. A recent anal lesion was seen in 8.3% of the cases. Cytology was performed on 78 victims. In 22 cases (28.2%), sperm could be detected in vaginal swabs up to 3 days post-assault, and pregnancy was seen in 7.4% of assault victims., Conclusion: Sexual abuse represents a human rights and public health problem that is thriving in a culture of silence, particularly in the Arab region. There is a particular need to create a Tunisian national database on female sexual assaults, in order to centralize data and provide holistic follow-up for specific preventive measures. Finally, efficient management of such cases will need, in addition to legislation, a partnership between the various actors involved in taking care of the victims (health care professionals, the police, social specialists, and psychologists). In addition, civil societies are key partners to break the silence, support this issue, and raise awareness., (© 2022. The Author(s).)

Mint species ( Lamiaceae family) have been used as traditional remedies for the treatment of several diseases. In this work, we aimed to characterize the biological activities of the total phenolic and flavonoid contents of Mentha pulegium L. extracts collected from two different regions of Tunisia. The highest amounts of total phenols (74.45 ± 0.01 mg GAE/g DW), flavonoids (28.87 ± 0.02 mg RE/g DW), and condensed tannins (4.35 ± 0.02 mg CE/g DW) were found in the Bizerte locality. Methanolic leaf extracts were subjected to HPLC-UV analysis in order to identify and quantify the phenolic composition. This technique allowed us to identify seven phenolic compounds: two phenolic acids and five flavonoid compounds, such as eriocitrin, hesperidin, narirutin, luteolin, and isorhoifolin, which were found in both extracts with significant differences between samples collected from the different regions ( p < 0.05). Furthermore, our results showed that the methanolic extract from leaves collected from Bizerte had the highest antioxidant activities (DPPH IC 50 value of 16.31 μg/mL and 570.08 μmol Fe 2+ /g, respectively). Both extracts showed high radical-scavenging activity as well as significant antimicrobial activity against eight tested bacteria. The highest antimicrobial activities were observed against Gram-positive bacteria with inhibition zone diameters and MIC values ranging between 19 and 32 mm and 40 and 160 µg/mL, respectively. Interestingly, at 10 μg/mL, the extract had a significant effect on cell proliferation of U87 human glioblastoma cells. These findings open perspectives for the use of Mentha pulegium L. extract in green pharmacy, alternative/complementary medicine, and natural preventive therapies for the development of effective antioxidant, antibacterial, and/or antitumoral drugs.

Echinops spinosissimus Turra subsp. roots was investigated, after extraction with two different solvents: ethanol and ethyl acetate, for its phenolic profile as well as biological activities. Echinops spinosissimus Turra subsp. spinosus roots ethanolic extract was characterized by the highest content of total polyphenols (19.3 mg GAE/100 g of DW). In addition, the phenolic profiles of the two studied extracts were analysed using HPLC-UV, where p -coumaric (8.59 mg/kg of DW) and cinnamic acids (4.68 mg/kg of DW) were detected as the most abundant phenolic acids, and kaempferol was the predominant flavonoids (30.37 mg/kg of DM) followed by quercetin and rutin in the ethanolic extract. While, only p -coumaric acid, epicatechin, kaempferol and quercetin were identified and quantified in ethyl acetate roots extract. All tested extracts exhibited an antimicrobial effect against Gram-positive and Gram-negative bacteria. These findings indicate that Echinops spinosissimus Turra subsp. spinosus roots can be regarded as a new source of edible oil having health benefits and nutritional properties.

Genetic diseases in Tunisia are a real public health problem given their chronicity and the lack of knowledge concerning their prevalence and etiology, and the high rates of consanguinity. Hence, we performed systematic reviews of the literature in order to provide a more recent spectrum of these disorders and to expose the challenges that still exist to tackle these kinds of diseases. A manual textual data mining was conducted using MeSH and PubMed databases. Collected data were classified according to the CIM-10 classification and the transmission mode. The spectrum of these diseases is estimated to be 589 entities. This suggests remarkable progress through the development of biomedical health research activities and building capacities. Sixty percent of the reported disorders are autosomal recessive, which could be explained by the high prevalence of endogamous mating. Congenital malformations (29.54%) are the major disease group, followed by metabolic diseases (22%). Sixty percent of the genetic diseases have a known molecular etiology. We also reported additional cases of comorbidity that seem to be a common phenomenon in our population. We also noticed that epidemiological data are scarce. Newborn and carrier screening was only limited to pilot projects for a few genetic diseases. Collected data are being integrated into a database under construction that will be a valuable decision-making tool. This study provides the current situation of genetic diseases in Tunisia and highlights their particularities. Early detection of the disease is important to initiate critical intervention and to reduce morbidity and mortality.

Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene. Clinical presentation of AM includes mental retardation, recurrent infections, hearing loss, dysmorphic features, and motor dysfunctions. AM has never been reported in Tunisia. We report here the clinical and genetic study of six patients from two Tunisian families with AM. The AM diagnosis was confirmed by an enzymatic activity assay. Genetic investigation was conducted by Sanger sequencing of the mutational hotspots for the first family and by ES analysis for the second one. In the first family, a frameshift duplication p.(Ser802GlnfsTer129) was identified in the MAN2B1 gene. For the second family, ES analysis led to the identification of a missense mutation p.(Arg229Trp) in the MAN2B1 gene in four affected family members. The p.(Ser802GlnfsTer129) mutation induces a premature termination codon which may trigger RNA degradation by the NMD system. The decrease in the levels of MAN2B1 synthesis could explain the severe phenotype observed in the index case. According to the literature, the p.(Arg229Trp) missense variant does not have an impact on MAN2B1 maturation and transportation, which correlates with a moderate clinical sub-type. To explain the intra-familial variability of cognitive impairment, exome analysis allowed the identification of two likely pathogenic variants in GHR and SLC19A3 genes potentially associated to cognitive decline. The present study raises awareness about underdiagnosis of AM in the region that deprives patients from accessing adequate care. Indeed, early diagnosis is critical in order to prevent disease progression and to propose enzyme replacement therapy., Competing Interests: The authors have declared that no competing interests exist.

Background: Considerable effort has been devoted to elucidating correlates of psychopathy in males, but only few researchers have turned their attention to this field in female counterparts, with most of the research in this field having been driven from western countries. We aimed to explore psychopathic traits, impulsiveness and psychiatric symptoms that characterize a Tunisian female prison population., Method: Data were collected in a cross-sectional design during September 2017. The sample was comprised of 100 adult females who were incarcerated at the "Manouba Women's Prison" at the time of the survey. The Levenson Self-Report Psychopathy Scale, the Barratt Impulsiveness Scale, and The Brief Symptom Inventory were used., Results: In the univariate analysis, socioeconomic level (p = .001), tobacco use (p = .001), poly drug use (p = .014) and physically aggressive behaviors in the 6 months before incarceration (p = .043) were significantly associated with psychopathy total scores. After multivariable adjustment, motor impulsiveness (β = 0.426, p < .01) and phobic anxiety (β = 0.284, p < .05) contributed significantly to the variance of psychopathy total scores., Conclusion: The current findings not only add to the growing body of literature on female psychopathy, but also help inform decision making about mental health-related programs and policies in female prison settings in underdeveloped and underrepresented countries similar to our sociocultural context., (Copyright © 2021 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.)

Hepatitis A infections still represent a major global health concern. During the past years, a transition pattern of the hepatitis A epidemiology was noted in many parts of the world. In Tunisia, there is not a recent survey on age-specific hepatitis A virus seroprevalence. This study aimed to investigate the seroprevalence of hepatitis A virus infection in Central-West Tunisia, representative of regions with lowest socioeconomic level in the country, before vaccine implementation. Sera obtained from the blood samples of subjects were screened for the detection of hepatitis A virus. The seroprevalence was evaluated by detection of total antibodies to hepatitis A virus using commercially available immunoassay kits. A total of 1379 subjects, aged 5-75 years (mean age: 29.0 ± 17.3 years) were studied. The global anti-hepatitis A virus seroplevalence was 84.7% (95% confidence interval: [82.6-86.5]). A higher hepatitis A virus seroprevalence was showed in subjects aged 10-14 years compared to those aged less than 10 years (50.0% vs. 31.0%). In subjects aged 20-29 years, a rapid increase in the hepatitis A virus prevalence was noted; it reached 97.0%. The seroprevalence of anti-hepatitis A virus differed by zone of residence (81.1% in rural area vs. 72.4% in urban area, p = .005) and increased significantly with lower level of education (p = .019). There was no statistical significant seroprevalence difference between male and female: 84.2% versus 85.2%, respectively. Our study confirm the transition pattern of the hepatitis A virus endemicity in Tunisia from high to intermediate and provide an evaluation of the hepatitis A virus epidemiological situation before vaccine implementation., (© 2020 Wiley Periodicals LLC.)

Background: Contemporary registries on atrial fibrillation (AF) are scare in North African countries., Hypothesis: In the context of the epidemiological transition, prevalence of valvular AF in Tunisia has decreased and the quality of management is still suboptimal., Methods: NATURE-AF is a prospective Tunisian registry, involving consecutive patients with AF from March 1, 2017 to May 31, 2017, with a one-year follow-up period. All the patients with an Electrocardiogram-documented AF, confirmed in the year prior to enrolment were eligible. The epidemiological characteristics and outcomes were described., Results: A total of 915 patients were included in this study, with a mean age of 64.3 ± 22 years and a male/female sex ratio of 0.93. Valvular AF was identified in 22.4% of the patients. The mean CHA 2 DS 2 VASC score in nonvalvular AF was 2.4 ± 1.6. Monotherapy with antiplatelet agents was prescribed for 13.8% of the patients. However, 21.7% of the subjects did not receive any antithrombotic agent. Oral anticoagulants were prescribed for half of the patients with a low embolic risk score. In 341 patients, the mean time in therapeutic range was 48.87 ± 28.69%. Amiodarone was the most common antiarrhythmic agent used (52.6%). During a 12-month follow-up period, 15 patients (1.64%) had thromboembolism, 53 patients (5.8%) had major hemorrhage, and 52 patients (5.7%) died., Conclusions: NATURE-AF has provided systematic collection of contemporary data regarding the epidemiological and clinical characteristics as well as the management of AF by cardiologists in Tunisia. Valvular AF is still prevalent and the quality of anticoagulation was suboptimal., (© 2021 The Authors. Clinical Cardiology published by Wiley Periodicals LLC.)

Mohamed Soussi SOLTANI (June 27, 1953 - March 2, 2016) is Professor of Preventive and Community Medicine at the Faculty of Medicine of Monastir (Tunisia). The objective of this paper is to present, to new generations of the specialty in the Greater Maghreb, this leading teacher from the Center-East of Tunisia (Monastir), through the testimonies of his companions, and his indexed publications. All the colleagues of the late SOLTANI testified to his high human and professional qualities, particularly perseverance, commitment, forward thinking, integrity and professionalism. The scientific life of the late Professor Soltani was oriented towards two major themes: Public Health and Family Medicine. Indeed, the deceased has developed several new preventive activities in first-line structures such as anonymous and free HIV screening, family planning, rational use of drugs, breast cancer screening, smoking cessation, prevention of rheumatic heart disease. Pr SOLTANI welcomed general practitioners from the Monastir region to the Faculty's Community Medicine Department, creating with them a movement to advocate for the academic and professional development of general medicine into an authentic specialty of family medicine. Out of the 34 publications of Professor SOLTANI, indexed on PubMed, 11 were signed by himself in first position, mainly relating to maternal health (prenatal surveillance, education for maternal health, pregnancy referral system) and infant (low birth weight, vaccination, mother-to-child transmission of hepatitis B, meningitis due to Haemophilus influenzae). Thus, with a life prospering by innovations and research in public health, Professor SOLTANI will always remain a model for young people in the specialty of Preventive and Community Medicine. His followers have an obligation to write his complete biography, to safeguard it and pass it on to new generations of public health.

Objectives: Tunisia has been a crossroads for people from Africa, Europe, and the Middle East since prehistoric times. At present, it is inhabited by two main ethnic groups, Arabs and Berbers, and several minorities. This study aims to advance knowledge regarding their genetic structure using new population samplings and a genome-wide approach., Materials and Methods: We investigated genomic variation, estimated ancestry components and dated admixture events in three Berber and two Arab populations from Southern Tunisia, mining a dataset including Middle Eastern, sub-Saharan, and European populations., Results: Differences in the proportion of North African, Arabian, and European ancestries and the varying impact of admixture and isolation determined significant heterogeneity in the genetic structure of Southern Tunisian populations. Admixture time estimates show a multilayer pattern of admixture events, involving both ethno-linguistic groups, which started around the mid XI century and lasted for nearly five centuries., Discussion: Our study provides evidence that the relationships between genetic and cultural diversity of old and new inhabitants of North Africa in southern Tunisia follow different patterns. The Berbers seem to have preserved a significant part of their common genomic heritage despite Islamization, Arab cultural influence, and linguistic diversity. Compared to Morocco and Algeria, southern Tunisian Arabs have retained a higher level of Arabian ancestry. This is more evident in the semi-nomad R'Baya, who have kept their original Bedouin lifestyle, than in the population from Douz, who have undergone multiple events of stratification and admixture., (© 2020 Wiley Periodicals LLC.)

Scarce information about the phenolic composition of Scabiosa atropurpurea L. is available, and no carotenoid compounds have been reported thus far. In this study the phenolic and carotenoid composition of this plant was both investigated and associated bioactivities were evaluated. Aiming to obtain extracts and volatile fractions of known medicinal plants to valorize them in the pharmaceutical or food industries, two techniques of extraction and five solvents were used to determine the biologically active compounds. Gas chromatography coupled to flame ionization and mass spectrometry and liquid chromatography coupled to photodiode array and atmospheric pressure chemical ionization/electrospray ionization mass spectrometry highlighted the presence of 15 volatiles, 19 phenolic, and 24 natural pigments in Scabiosa atropurpurea L. stem samples; among them, the most abundant were 1,8-cineole, chlorogenic acid, cynaroside, and lutein. Bioactivity was assessed by a set of in vitro tests checking for antioxidant, antibacterial, antifungal, and allelopathic (against Brassica oleracea L. and Lens culinaris Medik) effects. Scabiosa atropurpurea L. stem extracts presented a considerable antioxidant, antibacterial, and allelopathic potential, with less antifungal effectiveness. These results indicate that the volatile fractions and extracts from S. atropurpurea L. stem could be considered as a good source of bioactive agents, with possible applications in food-related, agriculture, and pharmaceutical fields. Genetic investigations showed 97% of similarity with Scabiosa tschiliensis , also called Japanese Scabiosa.

Background: Prevalence of psychotic disorders in a prison population is higher than in the general population. Recent research has shown that early intervention is feasible in prison settings, and that approximately 5% of screened prisoners have met ultra-high-risk (UHR) for psychosis criteria. We aimed to identify the prevalence of the UHR states for developing psychosis in a group of newly incarcerated men in the Jendouba Civil Prison and to analyze the association between UHR states and socio-demographic data and substance use., Method: We carried-out a cross-sectional study among 120 prisoners. Every prisoner was interviewed using the Comprehensive Assessment of At-Risk Mental States (CAARMS). The Social and Occupational Functioning Assessment Scale (SOFAS) was used to assess the participant's level of functioning., Results: We found a prevalence of subjects meeting the UHR criteria of 21.3%. UHR subjects had significantly more psychiatric family history (P=0.035), personal history of suicide attempt(s) (0.035) and self-injury (P=0.013) compared to non-UHR subjects. Clinical self-evaluation found significantly more depression and anxiety in the UHR group (P=0.020 and P=0.035, respectively). In addition, social and occupational functioning was significantly more impaired in the UHR group (P=0.007). UHR subjects used significantly more cannabis in lifetime (P=0.015) as well as in the past year (P=0.022) and had a significantly higher frequency of cannabis use (P=0.01) compared to non-UHRs., Conclusion: Prison mental health teams face the challenge of identifying prisoners who need mental health services and providing early care to this vulnerable group; this challenge may offer a unique opportunity for intervention among a population that might not otherwise have had access to it., (Copyright © 2020 L'Encéphale, Paris. Published by Elsevier Masson SAS. All rights reserved.)

Objectives: Evaluate the effectiveness of the Eyes Movement Desensitization and Reprocessing psychotherapy for children with Post-Traumatic Stress Disorder., Methods: A retrospective study was conducted in the Child Psychiatry Department of CHU Mongi Slim, Marsa (Tunis, Tunisia). All Outpatients with a Post-Traumatic Stress Disorder diagnosis and who had Eyes Movement Desensitization and Reprocessing psychotherapy during the period from July 2016 to May 2018 were included. They were evaluated according to DSM 5 criteria in pre and post therapy., Results: The sample consisted of sixteen children with a sex-ratio of 1.6. Their age ranged from 3 to 17 years old with a mean age of 9.5±4.6 years. Five patients were less than six years old. Our patients were exposed to a sexual assault (4 cases), a death of a family member (3 cases), a road accident (3 cases), a physical assault (4 cases), an arrest of the father (1 case) and burglary of the house (1 case). In 15 cases, the traumatic event was unique while it was repeated in one sexual assault case. The total number of follow-up sessions ranged from one to seven sessions with an average of 3±2.4 sessions. The average number of sessions for preschool children was 2.6±0.5 sessions. Bilateral tactile stimulations were used with thirteen children in our population, including the five children younger than six years old. At the end of the therapy all patients no longer met the criteria for Post-Traumatic Stress Disorder diagnosis. All the preschool patients and eight children older than 6 years did not respond to any of the four Post-Traumatic Stress Disorder criteria. The difference between the scores of the DSM 5 criteria in pre and post EMDR was statistically significant. We found P=10-3 for children over six years and P<0.05 for children under six years old., Conclusion: Eyes Movement Desensitization and Reprocessing is a therapy that has several advantages. First, it is effective in Post Traumatic Stress Disorder in children. Second, its protocol is flexible and adaptable to all ages and developmental level of the child. Third, the number of sessions is usually reduced, which is a great advantage over other trauma-focused psychotherapies., (Copyright © 2019 L'Encéphale, Paris. Published by Elsevier Masson SAS. All rights reserved.)

In the present study, volatile oils from Onopordum arenarium fresh flowers and stems were obtained by hydrodistillation and the non-polar aerial part hexane extract was prepared using a Soxhlet apparatus. The constituents of different organs were identified for the first time by gas chromatography equipped with flame ionization detector and gas chromatography coupled to mass spectrometry. A total of 29 and 25 compounds were identified constituting over 91.6 and 89.2% of the whole constituents from flower and stem volatile oils, respectively. Both organs were constituted mainly of long-chain hydrocarbons (23.3-36.4%) followed by oxygenated long-chain hydrocarbons (31.5-33.8%) and oxygenated monoterpenes (14.4-6.6%). The major identified compound was palmitic acid [25.5% in O. arenarium flower essential oil (EO) and 28.7% in the stem EO]. Eighteen compounds representing 80.7% of the whole constituents were identified in the n-hexane extract, which was characterized by high amounts of triterpenoids (39.6%) and dominated by lupeol acetate (19.2%) and β-amyrin acetate (10.1%). Moreover, all extracts were evaluated for antioxidant potential using 1,1-diphenyl-2-picrylhydrazyl radical assay. The obtained results demonstrated that the EOs and the hexane extract could be a new source of natural potentially bioactive molecules., (© The Author(s) 2019. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

This study was aimed to identify the predictors of splenic sequestration crisis (SSC) among pediatric patients with sickle cell disease (SCD). This prognosis study was carried out in the pediatric immuno-hematology unit, over 20 years (1998 to 2017), enrolling patients with SCD. The cox model was used in multivariate analysis. Among 423 patients with SCD (240 S/S phenotype, 128 S/B0, 30 S/B+, 14 S/O arab and 11 S/C), 150(35.4%) had at least one episode of SSC. The average age of patients at the first episode was 48.3 months ± 32.4(2-168). Recurrence of SSC was observed in 117 patients (78%). Spleen size ≥3 cm at baseline was the strongest predictor of SSC occurrence (HR = 7.27, CI: 4.01-13.20, p = 0.05) and recurrence (HR = 6.37, CI: 1,46-27.83, p = 0.01). Pallor revealing the disease, age at onset of symptoms <24 months and reticulocytosis ≥300,000/mm 3 increased the risk of SSC. Pain crisis revealing the disease as well as neutrophilia was associated with a lower risk of SSC. In conclusion, this study confirmed the high prevalence of SSC in SCD and the high frequency of recurrence after a first episode. The SSC occurrence and recurrence were intimately linked to the presence of splenomegaly, chronic pallor revealing the disease as well as reticulocytosis., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Biomarker-driven research has been proposed as a successful method to assess the exposure of individuals to xenobiotics, including mycotoxins, through estimation of their metabolites in biological fluids. A methodology to determine patulin (PAT) and citrinin (CIT) in human urine and plasma using liquid chromatography coupled to tandem mass spectrometry was developed and validated in the present study. Selectivity/specificity, linearity, limit of detection and quantification, apparent recovery, intraday- and interday-precision and measurement uncertainty were investigated for validation purposes. Finally, the method was used to analyze human urine (n = 100) and plasma (n = 100) case-control samples, where 50 samples originated from colorectal cancer patients and 50 from age/sex-matched controls. This case-control study revealed that PAT was not detected in urine samples, however occurred in 25% of the analysed plasma samples with an average concentration of 11.62 ± 6.67 ng/mL in the positive samples. CIT was found in urine samples (74%) and plasma samples (36%) with average concentrations in the positive samples of 0.45 ± 0.24 ng/mL and 0.49 ± 0.2 ng/mL respectively. No statistically significant difference of PAT and CIT concentration among colorectal cancer and control patients (p > 0.05) was observed., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

Nodulation and genetic diversity of native rhizobia nodulating Lathyrus cicera plants grown in 24 cultivated and marginal soils collected from northern and central Tunisia were studied. L. cicera plants were nodulated and showed the presence of native rhizobia in 21 soils. A total of 196 bacterial strains were selected and three different ribotypes were revealed after PCR-RFLP analysis. The sequence analysis of the rrs and two housekeeping genes (recA and thrC) from 36 representative isolates identified Rhizobium laguerreae as the dominant (53%) rhizobia nodulating L. cicera. To the best of our knowledge, this is the first time that this species has been reported among wild populations of the rhizobia-nodulating Lathyrus genus. Twenty-five percent of the isolates were identified as R. leguminosarum and isolates LS11.5, LS11.7 and LS8.8 clustered with Ensifer meliloti. Interestingly, five isolates (LS20.3, LS18.3, LS19.10, LS1.2 and LS21.20) were segregated from R. laguerreae and clustered as a separate clade. These isolates possibly belong to new species. According to nodC and nodA phylogeny, strains of R. laguerreae and R. leguminosarum harbored the symbiotic genes of symbiovar viciae and clustered in three different clades showing heterogeneity within the symbiovar. Strains of E. meliloti harbored symbiotic genes of Clade V and induced inefficient nodules., (Copyright © 2019 Elsevier GmbH. All rights reserved.)

The present study aims to characterize nodule endophytic bacteria of spontaneous lupine plants regarding their diversity and their plant growth promoting (PGP) traits. The potential of PGPR inoculation was investigated to improve white lupine growth across controlled, semi-natural and field conditions. Lupinus luteus and Lupinus angustifolius nodules were shown inhabited by a large diversity of endophytes. Several endophytes harbor numerous plant growth promotion traits such as phosphates solubilization, siderophores production and 1-aminocyclopropane-1-carboxylate deaminase activity. In vivo analysis confirmed the plant growth promotion ability of two strains (Paenibacillus glycanilyticus LJ121 and Pseudomonas brenneri LJ215) in both sterilized and semi-natural conditions. Under field conditions, the co-inoculation of lupine by these strains increased shoot N content and grain yield by 25% and 36%, respectively. These two strains Paenibacillus glycanilyticus LJ121 and Pseudomonas brenneri LJ215 are effective plant growth-promoting bacteria and they may be used to develop an eco-friendly biofertilizer to boost white lupine productivity.

Background: Sexual violence exists everywhere in the world. It depends mainly on the cultural and religious norms conveyed in the various societies. This is a neglected area of research. Available data are insufficient, especially in Arab-Muslim context., Methods: In this paper, we comprehensively review the scientific literature in order to clarify the cultural, religious and legal aspects of the concept of sexual violence against women in Tunisia, and ask the question of the urgent need to put in place strategies to counter this problem., Results: The National Office for Family and Population published in 2011 the results of the national survey on violence against women in Tunisia, including data on sexual violence and its impact on women's health and well-being. According to this survey, 14.2% of women reported having been sexually abused by an intimate partner during their lifetime and 9.0% reported having experienced it during the last 12 months. One out of every six Tunisian women has been the victim of a sexual violence in a conjugal setting. More men than women legitimized violence against women in contexts where family control, especially conjugal control, is exercised over them. In a study examining the impact of culture and religion on experiences and sexual practice of women in Tunisian society, the majority of respondents thought that sexuality in women was a religious duty and that they do not have the right to refuse their husbands or to rebel. Thus, women would be doubly sanctioned having neither the right to express their desire nor not to respond to their husband's desire. A survey of a representative sample of Tunisian women found that 56.9% of the participants reported being victims of domestic violence, particularly sexual violence (10.7%) consisting mainly of rape and sodomy, at least once in their lifetime. This survey showed that those victims expressed dissatisfaction with overall quality of life. Moreover, contrary to Western literature, sexual violence was the least reported form of violence by teenage girls in Tunisian schools. Indeed, cultural values of modesty, virginity and honor are socially much more demanded for girls, in Arab countries in general, reinforcing staggering silence and inaction around violence experienced by school-aged adolescents. In Tunisian society, the cultural "solution" to rape wants the woman to marry her rapist which safeguards her family's integrity by legitimizing the union., Conclusion: Sexual violence has detrimental effects on female victims' physical and mental health. Even if the information on this form of violence is not easy to obtain in our environment, and that rates of subjects reporting sexual violence in their lifetimes are not important, the problem of sexual violence must be considered as a public health problem requiring urgent interventions and a greater institutional will., (Copyright © 2018 L'Encéphale, Paris. Published by Elsevier Masson SAS. All rights reserved.)

The Androgen insensitivity syndrome (AIS) in its complete form (CAIS) is a disorder in abnormal male development characterized by a complete female phenotype in a 46,XY individual. The most frequent cause of this disorder is a hemizygous mutation in androgen receptor (AR) gene located in X chromosome. The first aim of this study was to confirm the clinical diagnosis in a series of Tunisian patients with a typical phenotype of CAIS by molecular genetic analysis. The second aim was to determine the AR mutational profile in the local population. The entire coding region and the exon-intron junctions of the AR gene were sequenced in a series of ten patients. AR defects were found in nine patients. Despite the small number of cases, two of the nine identified mutations were novel. The first novel mutation was an 8-bp deletion in exon 1 (c.862&#95;869del) resulting in a frameshift (p.A288Qfs*14). The second was a splice site mutation c.1885 + 1G > T (IVS3 + 1G > T). In this study, genetic testing has confirmed the diagnosis of most CAIS patients and has revealed two novel mechanisms responsible for the pathogenesis of AIS, as well as seven other reported mutations., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Background: Consanguinity increases the incidence of recessive diseases such as beta-thalassaemia major (βTM), one of the most prevalent lethal inherited diseases in the world. Aim: This study aims to identify the frequency of endogamy and consanguinity in two Mediterranean βTM populations and to study the implication of socio-economic factors. Subjects and methods: A trans-sectional study was conducted in 203 Tunisian families and 75 Italian families. Data were collected using a questionnaire completed by patients and parents. Results: Complete endogamy and consanguinity were observed in 82.75% and 62.56% of Tunisian families, respectively. Complete endogamy was found in 90.67% of Italian families, no consanguinity was noted. The low occupation status of Tunisian mothers was associated with an increasing frequency of consanguinity ( p  = .01) and endogamy ( p  = .0003). Consanguinity was associated with low education level ( p  = .012) and low occupation status ( p =.047) of fathers. No significant association was found between endogamy and socio-economic factors in the Italian sample. Conclusions: High consanguinity and endogamy rates in Tunisian families may explain the frequency of βTM in Tunisia. The high endogamy rate in Italian families could also increase the frequency of βTM. Identification of geographical distribution and socio-economic factors leading to endogamy and consanguinity in these populations might help to improve βTM prevention.

In beta-thalassemia patients, erythrocyte autoantibodies can remain silent or lead to Autoimmune Hemolytic Anemia (AIHA).The aim of this study was to identify predictors of AIHA in beta-thalassemia patients with positive Direct Antiglobulin Test (DAT), in Tunisia. This longitudinal prognosis study was carried out on beta-thalassemia patients with a positive confirmed DAT. Predictors of AIHA were identified the Kaplan-Meier method. A Cox model analysis was used to identify independent predictors. Among 385 beta thalassemia patients, 87 developed positive DAT (22.6%). Autoimmune hemolytic anemia was occurred in 25 patients. Multivariate analysis showed that AIHA was independently associated with beta-thalassemia intermedia and similar family history of AIHA. Splenectomy in patients with positive DAT was independently associated with an increased risk of AIHA (HR = 6.175, CI: 2.049-18.612, p < 0.001). The risk of developing AIHA was higher during the first 72 transfusions. Autoimmune hemolytic anemia was significantly associated with polyspecific DAT (anti-complement and anti-IgG), blood group AB and prior alloimmunization. Whereas transfusion by phenotypic and leukoreduced blood was a protective factor. In summary, splenectomy after autoimmunization, prior alloimmunization, DAT specificity (IgG with complement), thalassemia intermedia, AB blood group and family history of AIHA were strongly associated with AIHA. Leukoreduced blood transfusion had a proven preventive role., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Repeated chromatographic purifications of aerial parts of the Tunisian plant Daucus virgatus led to the isolation of four new germacranolides, named daucovirgolides I-L (2-5), along with the Plasmodium transmission-blocking agent daucovirgolide G. The chemical structures of the new compounds were defined as mono- or di-angeloylated germacrane-type sesquiterpenoids by spectroscopic (mainly 1D and 2D NMR) and spectrometric methods (ESIMS). The low potency exhibited by daucovirgolides I-L further supports the observation that strict structural requirements do exist for the Plasmodium transmission blocking activity in the daucovirgolide series. In particular, the endocyclic double bond system seems to be crucial for bioactivity., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Objective: We aimed to evaluate the links between different sleep parameters and suicidal ideation and behavior in remitted bipolar I patients., Methods: One hundred eight remitted bipolar I patients were recruited from the psychiatry department of Razi Hospital. The third item of the "Hamilton Depression Rating Scale" was used to evaluate current suicidal behaviors. Circadian typology, daytime sleepiness and sleep quality were evaluated using the "Horne and Ostberg Morningness-Eveningness Questionnaire," the "Epworth Sleepiness Scale," and the "Pittsburgh Sleep Quality Index," respectively., Results: Current suicidal ideation and behavior were significantly associated with circadian typology, daytime sleepiness, and sleep quality. After controlling for demographic variables (age and gender) and psychosocial factors (depression and substance use), suicidal ideation significantly contributed to sleep quality. Depression was a significant predictor within the second step when entered with other psychosocial variables; however, once suicide variables were included, depression was no longer a significant predictor., Conclusions: An evaluation of sleep's quality should be included in the suicide risk assessment of bipolar I patients., (© 2019 Wiley Periodicals, Inc.)

Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway. Noonan syndrome causes multiple congenital anomalies, which are frequently accompanied by hypertrophic cardiomyopathy (HCM). We report here a Tunisian patient with a severe phenotype of Noonan syndrome including neonatal HCM, facial dysmorphism, severe failure to thrive, cutaneous abnormalities, pectus excavatum and severe stunted growth, who died in her eighth month of life. Using whole exome sequencing, we identified a de novo mutation in exon 7 of the RAF1 gene: c.776C &gt; A (p.Ser259Tyr). This mutation affects a highly conserved serine residue, a main mediator of Raf-1 inhibition via phosphorylation. To our knowledge the c.776C &gt; A mutation has been previously reported in only one case with prenatally diagnosed Noonan syndrome. Our study further supports the striking correlation of RAF1 mutations with HCM and highlights the clinical severity of Noonan syndrome associated with a RAF1 p.Ser259Tyr mutation.

Background: The study of morbidity and cost of drug prescriptions generated by the primary care physician, with specific populations directs Quality Improvement strategies of care., Aim: To identify acute pathologies in primary care medicine forces for internal security and to study the cost of drug prescription ., Methods: This is a cross-sectional survey during which, we analyzed the medical records (MR) and medical prescriptions (MP)for patients older than 5 years, presenting for acute pathologies, at the first online consultation polyclinic of the internal security forces(ISF) of Mahdia, during the year 2014. Data were collected using a standardized form. We opted for a two-stage sampling the first agreement by taking the second month of each season, the second systematic taking MR from one day to two., Results: We analyzed 701 MR. The average age of the consultants was 37 years with a sex ratio de1,34. Systems, respiratory, digestive, musculoskeletal, skin and cardiovascular, were accumulating 88.3% of acute morbidity diagnosed. The most prescribed therapeutic classes were antipyretics / analgesics (61.6%), antibiotics (42.7%), local treatments oto-rhino-laryngological and throat (28.6%), cough (13.6%), the non steroidal anti inflammatory (12.2%) and mucolytics (11.7%). The median cost of the prescription was 12.070 Tunisian Dinar (TD). The contribution of the patients served at the polyclinic of the FIS of Mahdia, in drug costs, was 35.1%., Conclusion: we were able to highlight the specificities of morbidity in the front line at the polyclinic of the FSI of Mahdia , the nature and cost of drug prescription that was equivalent to that of the general population but with better contribution third party payers.

Background: Breast cancer is the most common cancer in women worldwide. Around 50% of breast cancer familial risk has been so far explained by known susceptibility alleles with variable levels of risk and prevalence. The vast majority of these breast cancer associated variations reported to date are from populations of European ancestry. In spite of its heterogeneity and genetic wealth, North-African populations have not been studied by the HapMap and the 1000Genomes projects. Thus, very little is known about the genetic architecture of these populations., Methods: This study aimed to investigate a subset of common breast cancer loci in the general Tunisian population and to compare their genetic composition to those of other ethnic groups. We undertook a genome-wide haplotype study by genotyping 135 Tunisian subjects using the Affymetrix 6.0-Array. We compared Tunisian allele frequencies and linkage disequilibrium patterns to those of HapMap populations and we performed a comprehensive assessment of the functional effects of several selected variants., Results: Haplotype analyses showed that at risk haplotypes on 2p24, 4q21, 6q25, 9q31, 10q26, 11p15, 11q13 and 14q32 loci are considerably frequent in the Tunisian population (> 20%). Allele frequency comparison showed that the frequency of rs13329835 is significantly different between Tunisian and all other HapMap populations. LD-blocks and Principle Component Analysis revealed that the genetic characteristics of breast cancer variants in the Tunisian, and so probably the North-African populations, are more similar to those of Europeans than Africans. Using eQTl analysis, we characterized rs9911630 as the most strongly expression-associated SNP that seems to affect the expression levels of BRCA1 and two long non coding RNAs (NBR2 and LINC008854). Additional in-silico analysis also suggested a potential functional significance of this variant., Conclusions: We illustrated the utility of combining haplotype analysis in diverse ethnic groups with functional analysis to explore breast cancer genetic architecture in Tunisia. Results presented in this study provide the first report on a large number of common breast cancer genetic polymorphisms in the Tunisian population which may establish a baseline database to guide future association studies in North Africa.

Background: High-risk human papillomavirus (HPV) types are the main etiological factors for cervical cancer. HPV16 and HPV18 are generally the most common forms associated with development of high-grade cervical lesions. This study was undertaken to identify intratypic variants of HPV16 and HPV18 among women with cervical lesions in Tunisia. Materials and Methods: DNA was extracted from cervical samples collected from 49 women. using a PureLinkTM Genomic DNA mini Kit (Invitrogen). E6 and L1 open reading frames (ORF) were amplified by PCR and viral DNA amplicons were subjected to automated sequencing using Big Dye Terminators technology (Applied Biosystems). The obtained sequences were analyzed using an appropriate software program to allow phylogenetic trees to be generated. Results: HPV16 and HPV18 were detected in 15 and 5 cases, respectively. HPV16 E6 sequences clustered with the European German lineage (A2) whereas one isolate diverged differently in the L1 region and clustered with the African sub-lineage (B1). HPV 18 E6 sequences clustered with the European sub-lineage (A1) but L1 sequences clustered as a new clade which diverged from A1-A5. Conclusions: Our results suggest that the distribution of HPV16 and HPV18 sequences in women with cervical lesions in Tunisia is mainly related to European epidemiological conditions and point to the presence of recombinant HPV forms., (Creative Commons Attribution License)

Aims: To describe the transport of sick neonates to a tertiary care hospital and evaluate their condition at arrival and outcome., Methods: A multicenter, prospective cohort study was performed in 7 NICUs in Tunisia from 1st april to 31 July 2015.Demographic parameters, transport details and clinical features at arrival were recorded. All neonates were followed up till discharge or death., Results: A total of 239 consecutive neonates were enrolled in the study representing 5.7% of all admitted infants. Maternal risk factors were present in 26% of neonates admitted. Sex-ratio was 1.46. Preterm infants represented 24% of transported babies. Seventeen percent of neonates had severe respiratory distress and 10% had hemodynamic troubles. Referred hospital was not informed in 24% of cases. Regarding the transport mode, 113 newborns (47.5%) were transported in ambulance accompanied by a nurse. Documentation during transfert was present in 14% of cases. Five babies expired on arrival despite resuscitation.  Rate mortality was 8.4%., Conclusion: Transporting neonates in developing countries is a challenge. Organized transport services in Tunisia are not always available. So, in cases of at-risk pregnancy, it is safer to transport the mother prior to delivery than to transfer the sick baby after birth.

Specific genetic mutations in human papillomavirus type 16 (HPV16) DNA are considered important in cervical lesion progression. This study analyzes to what extent radiotherapy treatment contributes to viral DNA mutation in cervical cell carcinomas, and the biological significance of these mutations. Serial tumor tissue, including 44 cervical cancer samples, collected before and after radiotherapy, and 52 biopsies with benign cervices, were tested and analyzed for the presence of HPV16, and for the integrity of the E2 gene. Analysis was performed with polymerase chain reaction (PCR), and a bidirectional sequencing assay was performed to find HPV16 E2 gene variants. HPV16 E2 accounted for 81.8% and 37.5% among tumor and benign cervices respectively (p = 0.02). The incremental number of DNA mutations was associated with radiotherapy treatment. Most E2 gene mutations involved regions encoding the amino-terminal and carboxy-terminal regions of E2 in the tumor irradiated samples. Amino acid changes T135 K, A143T, N203D and P208A in the amino-terminal region were the most common mutations across the irradiated samples. Rather, the mutations in the carboxy-terminal region (T3694A and T3805G) were synonymous changes. Specific nucleotide deletions were detected in the hinge domain, at positions 3455A > -, 3466 T > -, and 3501A > -. The mutation degree is influenced by the irradiation modalities, interestingly E2 sequence mutation being found widely after radiotherapy treatment with a total fractioned dose of 50 Gy (p = 0.004). E2 mutation has predictive and biological significance in cervical cancer patients receiving curative radiation therapy. Possibly, E2 mutation could influence viral genome intactness and could serve as an intrinsic marker for cervical cancer., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Poikiloderma with neutropenia (PN) is a genodermatosis characterized by poikiloderma, permanent neutropenia, recurrent infections, nail abnormalities, and palmoplantar hyperkeratosis. We report the case of a Tunisian patient with PN. Skin lesions started from the face and spread to the extremities and trunk. Neutropenia was initially periodic and concomitant with infections periods. DNA analysis identified a novel homozygous deletion of a 1-bp (c.161delC, p.P54RfsX60) in the C16orf57gene, presumed to be causative. This report presents the variability of the clinical manifestations and evolution of PN and emphasizes the importance of studying other patients with PN to better delineate mutations profile among populations., (© 2018 Wiley Periodicals, Inc.)

Background: A family history of breast cancer has long been thought to indicate the presence of inherited genetic events that predispose to this disease. In North Africa, many specific epidemio-genetic characteristics have been observed in breast cancer families when compared to Western populations. Despite these specificities, the majority of breast cancer genetics studies performed in North Africa remain restricted to the investigation of the BRCA1 and BRCA2 genes. Thus, comprehensive data at a whole exome or whole genome level from local patients are lacking., Methods: A whole exome sequencing (WES) of seven breast cancer Tunisian families have been performed using a family-based approach. We focused our analysis on BC-TN-F001 family that included two affected members that have been sequenced using WES. Relevant variants identified in BC-TN-F001 have been confirmed using Sanger sequencing. Then, we conducted an integrative analysis by combining our results with those from other WES studies in order to figure out the genetic transmission model of the newly identified genes. Biological network construction and protein-protein interactions analyses have been performed to decipher the molecular mechanisms likely accounting for the role of these genes in breast cancer risk., Results: Sequencing, filtering strategies, and validation analysis have been achieved. For BC-TN-F001, no deleterious mutations have been identified on known breast cancer genes. However, 373 heterozygous, exonic and rare variants have been identified on other candidate genes. After applying several filters, 12 relevant high-risk variants have been selected. Our results showed that these variants seem to be inherited in a family specific model. This hypothesis has been confirmed following a thorough analysis of the reported WES studies. Enriched biological process and protein-protein interaction networks resulted in the identification of four novel breast cancer candidate genes namely MMS19, DNAH3, POLK and KATB6., Conclusions: In this first WES application on Tunisian breast cancer patients, we highlighted the impact of next generation sequencing technologies in the identification of novel breast cancer candidate genes which may bring new insights into the biological mechanisms of breast carcinogenesis. Our findings showed that the breast cancer predisposition in non-BRCA families may be ethnic and/or family specific.

Introduction: Schizophrenia increases the risk of offending. Recidivism rates are significant. Literature doesn't provide recidivism risk factors specific to patients with schizophrenia independently of the offenses' types., Objective: Identifying recidivism risk factors in schizophrenia patients independently of the offenses' types., Methods: We conducted a case-control study. All included patients were admitted, at least once, to the forensic psychiatry unit in Razi Hospital between January 1st, 1985 and December 31st, 2014 after a decision of irresponsibility by reason of insanity. All those who reoffended during this period were considered as cases. Univariate and multivariate analyses were performed to identify recidivism risk factors., Results: We included 25 cases and 38 controls. Eight recidivism risk factors were identified. Living in poor urban neighborhoods (P = 0.023; OR = 4.86), having been unemployed (P = 0.042; OR = 2.18) and not having lived with the family (P = 0.039; OR = 1.36) after discharge were considered as risk factors. The same applied to alcohol (P = 0.026; OR = 4.89) and cannabis use disorders (P = 0.018; OR = 6.01). A hospitalization shorter than 6 months multiplied the risk by 1.79 (P = 0.046). A combination of conventional antipsychotics (P = 0.023; OR = 4.81) and a poor adherence to treatment (P = 0.001; OR = 10.42) were considered as recidivism risk factors too., Conclusions: All eight recidivism risk factors are dynamic. This makes recidivism prevention conceivable. Measures involving the patient, the health care system, patients' families, society and the government should be undertaken., (Copyright © 2018 Elsevier Ltd. All rights reserved.)