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In this study, we aimed to examine the effect of visual realism on soccer players’ memorization of soccer tactics according to their level of expertise and visuospatial abilities. We divided 48 volunteers into novice and expert soccer players and had them first perform a multitask visuospatial abilities (VSA) test and then undergo training with three dynamic soccer scenes, each presented with varied levels of realism (schematic, moderately realistic, and highly realistic). We then tested players’ memorization and reproduction of the soccer scenes and measured their visual processing with eye-tracking glasses to identify their cognitive processes during memorization. We found that reducing visual realism improved visual processing and memorization when compared to higher realism ( p < .001). Second, both higher (vs. lower) player expertise and higher (vs. lower) VSA influenced visual processing and enhanced memorization efficiency ( p < .001). Third, there were significant interaction effects between visual realism, player expertise, and player VSA ( p < .001) such that players with high VSA benefited more from reduced (vs. accentuated) visual realism than did players with low VSA. Thus, increasing visual realism can hinder tactical learning effectiveness, especially for learners who lack domain expertise and visuospatial abilities. Practically speaking, coaches and educators might improve their communications by tailoring tactical instructions to learners’ cognitive skills.

Antinuclear antibodies (ANA) test is used to screen adults as well as children for connective tissue diseases (CTD) and autoimmune hepatitis. However, interpretation of ANA positivity can be delicate.to determine clinical significance and diagnosis utility of ANA positivity in children.Patients from a general pediatric department with ANA positive results were included (follow-up period of 2 years). ANA screening was performed by indirect immunofluorescence (IIF) on HEp-2 cells substrate (BioSystems®). In case of ANA positivity (cut-off: 1:80), the specificity was determined by IIF on Crithidia luciliea substrate (BioSystems®) and immunodot (Euroimmun®).Among 102 ANA tests, 55 (53,9%) were positive. We recorded the data of 38 patients (age average: 9,5 years - sex ratio: 0.72). The most frequent signs were join pain (55,3%). ANA titer varied between 1:80 (39,5% of cases) and 1:1280 (2,6% of cases). Typing was negative in 89,5% of cases. The majority (42,1%) of children with positive ANA test had musculoskeletal diseases. The others (57,9%) had systemic lupus erythematosus(n=2), overlap syndrome(n=1), rheumatoid purpura(n=2), idiopathic thrombocytopenic purpura(n=1), coeliac disease(n=1) or non-autoimmune diseases/no confirmed diagnosis(n=15).ANA prevalence in children was relatively high. When the pretest probability is low, the positive predictive value for CTD or autoimmune hepatitis is low. However, depending on the clinical context, ANA detection can represent a supplement diagnostic tool for these diseases and/or can lead to a clinico-biological monitoring.

Compressed Sensing Magnetic Resonance Imaging (CS-MRI) could be considered a challenged task since it could be designed as an efficient technique for fast MRI acquisition which could be highly beneficial for several clinical routines. In fact, it could grant better scan quality by reducing motion artifacts amount as well as the contrast washout effect. It offers also the possibility to reduce the exploration cost and the patient's anxiety. Recently, Deep Learning Neuronal Network (DL) has been suggested in order to reconstruct MRI scans with conserving the structural details and improving parallel imaging-based fast MRI. In this paper, we propose Deep Convolutional Encoder-Decoder architecture for CS-MRI reconstruction. Such architecture bridges the gap between the non-learning techniques, using data from only one image, and approaches using large training data. The proposed approach is based on autoencoder architecture divided into two parts: an encoder and a decoder. The encoder as well as the decoder has essentially three convolutional blocks. The proposed architecture has been evaluated through two databases: Hammersmith dataset (for the normal scans) and MICCAI 2018 (for pathological MRI). Moreover, we extend our model to cope with noisy pathological MRI scans. The normalized mean square error (NMSE), the peak-to-noise ratio (PSNR), and the structural similarity index (SSIM) have been adopted as evaluation metrics in order to evaluate the proposed architecture performance and to make a comparative study with the state-of-the-art reconstruction algorithms. The higher PSNR and SSIM values as well as the lowest NMSE values could attest that the proposed architecture offers better reconstruction and preserves textural image details. Furthermore, the running time is about 0.8 s, which is suitable for real-time processing. Such results could encourage the neurologist to adopt it in their clinical routines. Graphical abstract.

Background In a previous article (10.1007/s00701-019-03888-3), preliminary results of a survey, aiming to shed light on the number of surgical procedures performed and assisted during neurosurgery residency in Europe were reported. We here present the final results and extend the analyses. Methods Board-certified neurosurgeons of European Association of Neurosurgical Societies (EANS) member countries were asked to review their residency case logs and participate in a 31-question electronic survey (SurveyMonkey Inc., San Mateo, CA). The responses received between April 25, 2018, and April 25, 2020, were considered. We excluded responses that were incomplete, from non-EANS member countries, or from respondents that have not yet completed their residency. Results Of 430 responses, 168 were considered for analysis after checking in- and exclusion criteria. Survey responders had a mean age of 42.7 ± 8.8 years, and 88.8% were male. Responses mainly came from surgeons employed at university/teaching hospitals (85.1%) in Germany (22.0%), France (12.5%), the United Kingdom (UK; 8.3%), Switzerland (7.7%), and Greece (7.1%). Most responders graduated in the years between 2011 and 2019 (57.7%). Thirty-eight responders (22.6%) graduated before and 130 responders (77.4%) after the European WTD 2003/88/EC came into effect. The mean number of surgical procedures performed independently, supervised or assisted throughout residency was 540 (95% CI 424–657), 482 (95% CI 398–568), and 579 (95% CI 441–717), respectively. Detailed numbers for cranial, spinal, adult, and pediatric subgroups are presented in the article. There was an annual decrease of about 33 cases in total caseload between 1976 and 2019 (coeff. − 33, 95% CI − 62 to − 4, p = 0.025). Variables associated with lesser total caseload during residency were training abroad (1210 vs. 1747, p = 0.083) and female sex by trend (947 vs. 1671, p = 0.111), whereas case numbers were comparable across the EANS countries (p = 0.443). Conclusion The final results of this survey largely confirm the previously reported numbers. They provide an opportunity for current trainees to compare their own case logs with. Again, we confirm a significant decline in surgical exposure during training between 1976 and 2019. In addition, the current analysis reveals that female sex and training abroad may be variables associated with lesser case numbers during residency.

Post-operative CSF leak is the major source of morbidity following endoscopic transsphenoidal surgery. The purpose of this study was to identify factors associated with post-operative CSF leak in patients undergoing this surgery and facilitate the prospective identification of patients at higher risk of this complication. A review of a prospectively maintained database containing details of 270 endoscopic transsphenoidal operations performed by the senior author over a 9-year period was performed. Univariate analysis was performed using the Chi-squared and Fisher’s exact tests, as appropriate. A logistic regression model was constructed for multivariate analysis. The rate of post-operative CSF leak in this series was 9%. On univariate analysis, previous surgery, resection of craniopharyngiomas, adenomas causing Cushing’s disease and intra-operative CSF leaks were associated with an increased risk of post-operative CSF leak. The use of a vascularised nasoseptal flap and increasing surgical experience were associated with a decreased rate of CSF leak. On multivariate analysis, a resection of tumour for Cushing’s disease (OR 5.79, 95% CI 1.53–21.95, p = 0.01) and an intra-operative CSF leak (OR 4.56, 95% CI 1.56–13.32, p = 0.006) were associated with an increased risk of post-operative CSF leak. Increasing surgical experience (OR 0.14, 95% CI 0.04–0.46, p = 0.001) was strongly associated with a decreased risk of post-operative CSF leak. Increasing surgical experience is a strong predictor of a decreased risk of developing post-operative CSF leak following endoscopic transsphenoidal surgery. Patients with Cushing’s disease and those who develop an intra-operative CSF leak should be managed with meticulous skull base repair and close observation for signs of CSF leak post-operatively.

Background and aim The aim of this study is to evaluate the clinical, biological and hematological profiles of autoimmune hemolytic anemia (AIHA) in children and to specify its etiologies, therapeutic modalities, and treatment responses. Methods This is a 14-year retrospective study of AIHA cases collected at the department of pediatric emergency and reanimation of Hedi Chaker University Hospital in Sfax. We included patients under 14 years old with clinical and biological features of hemolysis and a positive direct antiglobulin test (DAT). The selected patients’ demographic characteristics, physical signs, laboratory findings, and treatment responses were recorded. Results Thirteen cases of AIHA were collected, including 8 girls and 5 boys. The median age at diagnosis was 4 years and 6 months (range: 8 months to 13 years). Consanguinity was reported in 6 cases and 4 patients had a previous infection history. The onset of AIHA was progressive in 9 cases, marked by an anemic syndrome and hemolysis symptoms in 6 and 8 cases, respectively. The clinical triad (pallor, jaundice and splenomegaly) was found in only 4 cases. At the time of diagnosis, the median hemoglobin (Hb) level was 6 g/dL (range: 4.2 to 9.2 g/dL), anemia was non-regenerative in 2 patients. Thrombocytopenia and neutropenia were noted in 5 and 1 patient, respectively. Peripheral smear examination showed spherocytosis in 2 cases. All the patients had a positive DAT. Of these, 10 were positive with IgG and 3 with both IgG and C3d. AIHA was secondary to other conditions in 9 patients: infection (3 cases), autoimmune disease (4 cases), and immunodeficiency (2 cases). All the patients received first-line corticosteroid therapy but only 8 of them required blood transfusions due to severe anemia. Complete remission was obtained in 7 cases. Corticosteroid resistance and dependence were noted in 1 and 2 cases, respectively. During evolution, additional therapy was indicated in 4 patients and it included cyclosporine A, azathioprine, and mycophenolate mofetil (MMF). After a median follow-up of 4.5 years, the cure rate was 80% and only 1 patient (a boy) died due to his underlying pathology. Conclusion Our study highlights the rarity, severity, and heterogeneity of etiological contexts of AIHA in children. The therapeutic difficulties justify specific expertise in pediatric hematology.

Pompe disease, a rare, autosomal, recessive, inherited, lysosomal storage disorder, is caused by mutations in the acid α-glucosidase (GAA) gene leading to a deficiency of the lysosomal GAA enzyme. Some GAA mutations eliminate all enzymatic activities, causing severe infantile Pompe disease; others allow residual GAA activity and lead to middle adulthood forms. Here, we report a cohort of 12 patients, belonging to 11 unrelated families, with infantile Pompe disease. The mutational analysis of GAA gene revealed a novel c.1494G > A (p.Trp498X) mutation in one patient and three known mutatio,ns including the c.1497G > A (p.Trp499X) mutation, in two patients, the c.1927G > A (p.Gly643Arg) mutation in one patient and the common c.236_246del (p.Pro79ArgfsX13) mutation in eight patients. The high prevalence of c.236_246del mutation in our cohort (58%) was supported by the existence of a common founder ancestor that was confirmed by its segregation of similar SNPs haplotype, including four intragenic SNPs of GAA gene. In addition, a 3D structure model and a docking were generated for the mutant p.Gly643Arg using the crystal structure of human GAA as template and the 4-methylumbelliferyl-α-D-glucopyranoside as substrate. The results showed that the arginine at position 643 caused electrostatic changes in neighboring regions, leading to the repulsion between the amino acids located in the catalytic cavity of the GAA enzyme, thus restricting access to its substrate. These structural defects could cause the impairment of the transport and maturation previously reported for p.Gly643Arg mutation.

Through their recognition of various bacterial cell wall components, TLR2 and TLR4 participate in the innate response and modulate the activation of adaptive immunity. Therefore, the genetic background of these receptors might play a crucial role in autoimmune diseases such as systemic lupus erythematosus (SLE). In this study, we investigated the possible association between polymorphisms within TLR2 and TLR4 genes with SLE susceptibility.A total of 100 SLE patients and 200 unrelated healthy controls of the Tunisian population were enrolled in the study.TLR4rs4986790, TLR4rs4986791, and TLR2rs5743708 genotyping were performed using a polymerase chain reaction-restriction fragment length polymorphism method. The number of guanine-thymine (GT) repeat microsatellite in the intron 2 of TLR2 gene was analyzed by sequencing.We reported a lack of allelic and genotypic association between SNPs of TLR4 and TLR2 genes and SLE pathogenesis. No correlation was found with any SLE features. However, SLE susceptibility was associated with the GT repeat microsatellite polymorphism in the human TLR2 gene. Further subclassification of alleles into three subclasses revealed a significant association between the long-sized repeats ((GT) 23) and SLE.Though the results showed the absence of genetic association of TLR4 and TLR2 SNPs with the risk of developing SLE, we have identified a protective association between the microsatellite polymorphism in intron 2 of the TLR2 gene and SLE. Functionally, these (GT)n repeats may confer modifying effects or susceptibility to certain inflammatory conditions.

Objective: In order to investigate human leukocyte antigen (HLA) genes predisposing to primary Sjögren syndrome (pSS), we conducted an association study using HLA loci (A, B, and DRB1) and 9 polymorphic microsatellite markers spanning the HLA region in pSS patients as compared to healthy individuals. Subjects and Methods: Forty-four patients fitting the European criteria of pSS and 123 healthy controls were analyzed for their HLA class I and class II alleles. HLA class I typing was performed using a standard microlymphocytotoxicity method followed by PCR-SSP. HLA-DRB1 genotyping was performed using PCR-SSP. We studied the polymorphism of 9 microsatellite markers for both groups. Microsatellite genotyping was performed using the PCR fluorescent technique. Results: We observed a positive association between HLA-B15 and pSS in the Tunisian population (p = 0.004, OR 7.57). The comparison of the frequencies of DRB1 alleles in pSS patients and controls confirmed the association of the DRB1*03 allele with pSS (p = 0.02, OR 2.36). On the other hand, the association study of microsatellite markers showed that the a9 allele of D6S265 marker and the a20 of C1.2.C were found to be positively associated with pSS as compared to controls (p =0.0003, OR 10.29, and p =0.001, OR 4.79, respectively). Using the “Haplo.stats” software analysis, we found that the most associated region was located in the HLA class I region and limited by HLA-A and D6S265 loci (p = 0.00056). Conclusion: The results of this study support the hypothesis of the existence of a susceptibility gene for pSS located in the HLA class I and III regions.

Background Triple negative breast cancer (TNBC) has been classified as a disease subgroup defined by the lack of expression of estrogen and progesterone receptors as well as the absence of the human epidermal growth factor receptor-2 (HER2) overexpression. Germline mutations in the BRCA1 gene have been associated with TNBC. Approximately 70% of breast cancers arising in BRCA1 mutation carriers and up to 23% of breast cancers in BRCA2 carriers display a triple negative phenotype. However, the contribution and the frequency of BRCA1 mutations in individuals with TNBC, not specifically selected for age at diagnosis or enriched family history of breast/ovarian cancer, have not been investigated in the Tunisian population and are to be established. The aim of the present study was to assess the contribution and the prevalence of recurrent BRCA1 germline mutation (5382inC) in Tunisian women with TNBC unselected for family history or age at onset. Methods For BRCA1 5382inC mutation detection, the exon 20 coding region and exon–intron boundaries of BRCA1 was analyzed using direct DNA sequencing. A total of 33 DNA samples from Tunisian women diagnosed with TNBC and unselected for family history or age at onset were analyzed. Results The 5382inC mutation was identified in 2 out of 33 women with TNBC with an overall prevalence of 6% (2/33). The detection rate of the 5382inC mutation among TNBC women with family history of breast cancer was 25% (2/8). The two 5382inC mutation carriers were postmenopausal and diagnosed at the age of 50 and 57. When stratified by age, the frequency of BRCA1 mutation in patients diagnosed at age ≥ 50 years was 8.7% (2/23). Conclusions Our results confirm a noticeable contribution of BRCA1 5382inC mutation in TNBC development in Tunisia and further indicate that screening for 5382insC mutation in the BRCA1 gene is of interest in genetic testing in our population. Additionally, our data highlight that receptor triple negativity could be an effective selection criterion for BRCA1 genetic test in our population and should therefore be considered in genetic testing guidelines in Tunisia.

Background During the coronavirus disease 2019 (COVID-19) pandemic, concerns have been raised regarding the increased risk of perioperative mortality for patients with COVID-19, and the transmission risk to healthcare workers, especially during endonasal neurosurgical operations. The Pituitary Society has produced recommendations to guide management during this era. We sought to assess contemporary neurosurgical practice and the effects of COVID-19. Methods A multicenter prospective observational cohort study was conducted at 12 tertiary neurosurgical units (United Kingdom and Ireland). Data were collected from March 23 to July 31, 2020, inclusive. The data points collected included patient demographics, preoperative COVID-19 test results, operative modifications, and 30-day COVID-19 infection rates. Results A total of 124 patients were included. Of the 124 patients, 116 (94%) had undergone COVID-19 testing preoperatively (transsphenoidal approach, 97 of 105 [92%]; expanded endoscopic endonasal approach, 19 of 19 [100%]). One patient (1 of 116 [0.9%]) had tested positive for COVID-19 preoperatively, requiring a delay in surgery until the infection had been confirmed as resolved. Other than transient diabetes insipidus, no other complications were reported for this patient. All operating room staff had worn at least level 2 personal protective equipment. Adaptations to surgical techniques included minimizing drilling, draping modifications, and the use of a nasal iodine wash. At 30 days postoperatively, no evidence of COVID-19 infection (symptoms or positive formal testing results) were found in our cohort and no mortality had occurred. Conclusions Preoperative screening protocols and operative modifications have facilitated endonasal neurosurgery during the COVID-19 pandemic, with the Pituitary Society guidelines followed for most of these operations. We found no evidence of COVID-19 infection in our cohort and no mortality, supporting the use of risk mitigation strategies to continue endonasal neurosurgery in subsequent pandemic waves.

Colorectal cancer (CRC) is a real public health issue in Tunisia. A screening program based on fecal immunological occult blood test, followed in case of a positive test by colonoscopy, was launched in Tunis region in 2016. We aimed to evaluate this screening program in order to make recommendations for a better implementation of this program in years to come.A mixed approach has been adopted with a quantitative component based on the production of indicators related to activity, monitoring and screening quality; and a qualitative component conducted through focus groups with frontline health care professionals (HCP) and individual interviews with those lost to follow-up after a positive screening test. SWOT analysis was then performed in order to assess main strengths, weaknesses, opportunities and threats of the program.This study showed a coverage rate of 41.2% [40.5-41.8] for population consulting the first line of care, and an effective participation rate estimated at 23.1% [22.6-23.6]. Out of 5856 tests performed, 6% (n=352) were non-treatable and 6.7 % (n=390) were positive. Only 18.6% (n=72) of those tested positive had undergone colonoscopy. A total of 26 polyps, 03 cases of cancer and 04 cases of dysplasia were recorded. SWOT analysis pointed out that the variable adherence of HCP, lack of awareness of general population regarding CRC screening, the non-acceptability of colonoscopy without sedation with a problem of affordability for its realization in the private sector, and long appointments delays in public sector, were main weaknesses and of this program.This evaluation underlined certain strengths regarding the program implementation and revealed, in return, several shortcomings which certainly impair the program's effectiveness and efficiency. The involvement of the national health insurance fund in CRC screening tests and colonoscopies reimbursement, as well as the establishment of a performance-based payment modality for HCP, constitute main key pillars to reach success and sustainability for any CCR mass screening program in Tunisia.

Introduction: La proportion de tunisiens diabétiques a atteint 15,5% des personnes âgées de plus de 15 ans en 2016. L'objectif de ce travail a été d'analyser la prise en charge des diabétiques dans des structures de santé contrastées. Méthodes: La méthodologie mixte (quantitative et qualitative), àdevis séquentiel explicatif, a été utilisée. Une étude transversale a été menée dans un Centre de Santé de Base (CSB) àNabeul et àl'Institut National de Nutrition et de Technologies Alimentaires (INNTA). Afin d'expliquer les résultats quantitatifs, des entretiens semi-directifs ont été réalisés auprès de différents professionnels et patients des deux centres. Résultats: L'étude quantitative auprès de 100 patients au CSB et 96 àl'INNTA a montré que l'équilibre glycémique n'a été atteint que dans moins de 30% des patients dans les deux structures de soins. Quoique l'examen clinique était meilleur au CSB, la réalisation de l'ECG, le dosage de l'HbA1c et du HDL-Ch étaient loins de l'optimal. L'étude qualitative a dégagé certaines hypothèses pour expliquer ces écarts: la pénurie de traitements essentiels et de tests biologiques de base ont diminué l'attractivité des CSB, aggravant ainsi l'encombrement dans les hôpitaux. Par ailleurs, L'encombrement des consultations et le manque de communication étaient les deux raisons majeures de l'insatisfaction des patients et des prestataires de soins. Conclusion: Notre étude défend l'apport de la première ligne des soins dans le management du diabète. Cependant, Il s'avère urgent de renforcer la première ligne par un plateau technique approprié, un système d'information pour le suivi de la qualité des soins et un appui des capacités des médecins généralistes en éducation, information et communication.

Thymoquinone (TQ), the active constituent of Nigella sativa, possesses several benefits in traditional and modern medicines. This study examined the effect of a single dose of Nano-TQ on chronic lung injury induced by repetitive intratracheal installation of lipopolysaccharide (LPS). Rats received LPS twice weekly for 8 weeks via intratracheal installation and a single dose of TQ-PLGA NPs on the day after the last dose of LPS. Six rats from each group were sacrificed after 8 and 10 weeks, and samples were collected for analysis. Repetitive intratracheal installation of LPS caused histopathological alterations, including partial or complete obstruction of the alveoli, interstitial edema, mild fibroblastic proliferation, fibrous strands besides lymphocytes and plasma infiltrations, suffered fetalization, bronchiectasis, hypertrophied arterioles, and others. Investigation of the ultrastructure revealed prominent necrotic pneumocytes with destructed chromatin and remnant of necrotic debris in the narrowing alveolar lumen in LPS-induced rats. TQ-PLGA NPs effectively ameliorated LPS-induced histopathological and ultrastructural alterations in the lung of rats. In addition, TQ-PLGA NPs significantly alleviated serum levels of IL-10 and TGF-β1 in LPS-induced rats. In conclusion, TQ-PLGA NPs prevented inflammation and tissue injury in the lungs of rats challenged with repetitive intratracheal installation of LPS. Therefore, TQ-PLGA NPs represent a promising candidate for the prevention of lung injury induced by LPS, pending further studies to determine its safety and exact protective mechanism.

This study aimed to study whether IVF stimulation that results in one or two mature follicles should proceed to oocyte retrieval. This is a retrospective cohort study conducted at McGill University Health Center on 459 patients who underwent IVF treatment between 2011 and 2014, undergoing hormonal stimulation and monitoring of their ovarian response. The primary outcomes were pregnancy and live birth rates. Statistical modeling was used to determine individual roles of patient age and ovarian reserve on outcomes, while controlling for the other factors. Of the 459 cycles included in the study, 360 cycles (78.4%) ended in embryo transfer. Live birth rates per cycle were 15.6%, for the ≤ 34-year-olds; 6.5%, for the 35-39-year-olds; and 2.7%, for the ≥ 40-year-olds (p0.01). Twenty-five percent of the cycles in the ≥ 40-year-old group were canceled versus 17% and 15% in the 35-39-year-old and ≤ 34-year-old groups, respectively (p0.05). Testing likelihood of live birth as a function of age and antral follicular count (AFC) revealed that a 1-year increase in age reduces the likelihood of live birth by 11% (p0.05) and one-unit increase in AFC count leads to a 9% increase in the odds of a live birth (p0.05). For the youngest age group, the AFC had a most significant effect, and those with AFC11 had 56% live birth rate, while those with AFC ≤ 11 had only 6% of live birth rate. This study supports a shift in reasoning from age being the predictor of outcomes in women with a low response at IVF to both age and ovarian reserve needing to be taken into consideration.

Musculoskeletal disorders (MSDs) currently represent the first occupational health problem. Tendinopathy of the shoulder is the most common occupational diseas. It is responsible for variable aftereffects arriving until the articular steepness.To determine the influence of clinical and radiological investigations in setting the rate of permanent partial disability related to occupational shoulder tendinopathies.This is a retrospective study of 63 patients followed for tendinopathy of the shoulder. The files were collected from the regional commission of attribution of the rates of permanent partial incapacity of the victims of the occupational accidents and diseases. For each patient we collected the social and occupational data, the result of the clinical examination and the radiological investigations as well as the attributed PPD rate (partial permanent disability). The data analysis allowed to determine the variation of the PPD according to the articular mobility and according to the severity of the hurts revealed by the radiological investigations.The average age of our patients was of 45 years with a feminine predominance (sex ratio 6.87). The patients were mainly workers of confections (51%). The imaging objectified a tendinopathy without tear in 23 cases (36,5 We showed that the rate of PPD increased in a proportional way according to the severity of the limitation of the mobility expressed in degrees lost of abduction or of extension as well as according to the gravity of the hurts revealed by the radiological investigations.we were able to attribute for every type of radiological lesion and according to the limitation of the mobility an interval of rather specific PPD, this allows directing the experts in the compensation of occupational shoulder tendinopathy victims.

Background CRANIAL (CSF Rhinorrhoea After Endonasal Intervention to the Skull Base) is a prospective multicenter observational study seeking to determine 1) the scope of skull base repair methods used and 2) corresponding rates of postoperative cerebrospinal fluid (CSF) rhinorrhea in the endonasal transsphenoidal approach (TSA) and the expanded endonasal approach (EEA) for skull base tumors. We sought to pilot the project, assessing the feasibility and acceptability by gathering preliminary data. Methods A prospective observational cohort study was piloted at 12 tertiary neurosurgical units in the United Kingdom. Feedback regarding project positives and challenges were qualitatively analyzed. Results A total of 187 cases were included: 159 TSA (85%) and 28 EEA (15%). The most common diseases included pituitary adenomas (n = 142/187), craniopharyngiomas (n = 13/187). and skull base meningiomas (n = 4/187). The most common skull base repair techniques used were tissue glues (n = 132/187, most commonly Tisseel), grafts (n = 94/187, most commonly fat autograft or Spongostan) and vascularized flaps (n = 51/187, most commonly nasoseptal). These repairs were most frequently supported by nasal packs (n = 125/187) and lumbar drains (n = 20/187). Biochemically confirmed CSF rhinorrhea occurred in 6/159 patients undergoing TSA (3.8%) and 2/28 patients undergoing EEA (7.1%). Four patients undergoing TSA (2.5%) and 2 patients undergoing EEA (7.1%) required operative management for CSF rhinorrhea (CSF diversion or direct repair). Qualitative feedback was largely positive (themes included user-friendly and efficient data collection and strong support from senior team members), demonstrating acceptability. Conclusions Our pilot experience highlights the acceptability and feasibility of CRANIAL. There is a precedent for multicenter dissemination of this project, to establish a benchmark of contemporary practice in skull base neurosurgery, particularly with respect to patients undergoing EEA.

Background Several studies have suggested that polymorphisms within genes encoding T‐lymphocyte immune regulating molecules: CD28, CTLA‐4, and ICOS, may alter the signaling process and subsequently could be involved in susceptibility to a broad spectrum of autoimmune diseases. Methods This study aimed to replicate associations between common polymorphisms in the 2q33.2 cluster and susceptibility to pemphigus foliaceus (PF) in the Tunisian population. We investigated seven polymorphisms: rs3116496 and rs1879877 (CD28), rs231775, rs3087243, and (AT)n repeat (CTLA4); rs11889031 and rs10932029 (ICOS) in a case–control study which enrolled 106 Tunisian PF patients and 205 matched healthy controls. Results We confirmed the associations with CTLA4((AT)13, p = 0.00137, OR = 3.96 and (AT)20, p = 0.008, OR = 5.22; respectively) and ICOS genes (rs10932029>CT, p = 0.034, OR = 2.12 and rs10932029>TT, p = 0.04 and OR = 0.41). Conclusion Our results indicate that susceptibility to PF is located in the proximal and the distal 3′ flanking region of the CTLA4/ICOS promoter. These findings may open avenues to the treatment of patients with biological drugs targeting CTLA4/ICOS molecules, in a personalized manner to achieve more effective treatment., Polymorphisms of 2q33 genes have not been analyzed in Tunisian endemic PF disease to date. Our study confirmed a strong association of CTLA‐4 (AT) repeat and ICOS>+173TC of 2q33.2 with the risk of PF in the Tunisian population.

Objective. This study aimed to examine the association of the different dimensions and forms of work–family conflict with the occurrence of neck and lower back pain (LBP) in Tunisian nurses. Method...

Background: The endonasal transsphenoidal approach (TSA) has emerged as the preferred approach in order to treat pituitary adenoma and related sellar pathologies. The recently adopted expanded endonasal approach (EEA) has improved access to the ventral skull base whilst retaining the principles of minimally invasive surgery. Despite the advantages these approaches offer, cerebrospinal fluid (CSF) rhinorrhoea remains a common complication. There is currently a lack of comparative evidence to guide the best choice of skull base reconstruction, resulting in considerable heterogeneity of current practice. This study aims to determine: (1) the scope of the methods of skull base repair; and (2) the corresponding rates of postoperative CSF rhinorrhoea in contemporary neurosurgical practice in the UK and Ireland. Methods: We will adopt a multicentre, prospective, observational cohort design. All neurosurgical units in the UK and Ireland performing the relevant surgeries (TSA and EEA) will be eligible to participate. Eligible cases will be prospectively recruited over 6 months with 6 months of postoperative follow-up. Data points collected will include: demographics, tumour characteristics, operative data), and postoperative outcomes. Primary outcomes include skull base repair technique and CSF rhinorrhoea (biochemically confirmed and/or requiring intervention) rates. Pooled data will be analysed using descriptive statistics. All skull base repair methods used and CSF leak rates for TSA and EEA will be compared against rates listed in the literature. Ethics and dissemination: Formal institutional ethical board review was not required owing to the nature of the study–this was confirmed with the Health Research Authority, UK. Conclusions: The need for this multicentre, prospective, observational study is highlighted by the relative paucity of literature and the resultant lack of consensus on the topic. It is hoped that the results will give insight into contemporary practice in the UK and Ireland and will inform future studies.

Pemphigus foliaceus (PF) is considered to be caused by the combined effects of susceptibility genes and environmental triggers. The polymorphisms of Toll-like receptors (TLRs) genes have been associated with the risk of various autoimmune diseases. The aim of this study was to evaluate the potential association of TLR2-3-4 and 7 gene polymorphisms with Tunisian PF. Fourteen polymorphisms were analyzed in 93 Tunisian PF patients compared to 193 matched healthy controls: rs5743703-rs5743709 and (GT)n repeat (TLR2); rs5743305, rs3775294, and rs3775291 (TLR3), rs4986790 and rs4986791 (TLR4); and rs3853839 (TLR7). Our results showed that the genetic factors varied depending on the epidemiological feature stratification. In fact, in the whole population, no association with the susceptibility to PF was found. The TLR2 GT repeat seems to be closely associated with PF risk in patients originated from the endemic localities (group 3); the GT18 allele and the heterozygous genotype GT18/GT19 seem to confer risk to endemic PF ( P = 0.02 ; OR = 2.3 [1.1-4.9] and P = 0.0002 , OR = 20 [2.5-171], respectively). In contrast, the GT23 repeat could be considered as protector allele ( P = 0.02 , OR = 0.2 [0.06-0.87]). Furthermore, medium GT alleles which induce high promoter activity were also significantly more frequent in patients versus short or long GT repeats ( P = 0.0018 with OR = 3.26 [1.5-7]). On the other hand, the TLR3-rs574305 AA genotype and A allele were significantly more frequent in patients whose age of the onset was above 35 years (group 2) ( P = 0.038 , OR = 1.78 and P = 0.009 , OR = 3.92 , respectively). Besides, the TLR4>rs3775294 A allele was found to be protector only in patients with sporadic features (groups 2 and 4) ( P = 0.03 , OR = 0.57 [0.3-0.9] and P = 0.006 , OR = 0.24 [0.08-0.74], respectively). No statistically significant difference was observed in the genotypic and allelic frequencies of TLR-4 and TLR-7 gene polymorphisms. The present data suggest that TLR2and TLR3 polymorphisms are significantly associated with increased susceptibility to PF in the Tunisian population.

We re-examine the infrequent paradigm of a biweekly dialysis at the start of renal replacement therapy. The current method is to launch hemodialysis among patients using a ‘full-dose’ posology three times a week. As a matter of fact, recent data has suggested that frequent hemodialysis leads to high mortality at the onset of dialysis. The aim of our study is to show the factors affecting early mortality especially the hemodialysis frequency. We undertook an observational study in the hemodialysis unit of Sfax University Hospital (south Tunisia). We enrolled the incident patients during one year. Baseline demographic and clinical characteristics of patients were noted. The survival status of each patient is observed at 6 months after the onset of hemodialysis. We analyzed the factors associated with mortality, especially the hemodialysis frequency (twice or thrice weekly hemodialysis regimen). We enrolled 88 patients with mean age of 56 ± 18 years old. Thirty patients underwent twice weekly dialysis (Group 1) and 58 patients underwent thrice weekly dialysis (Group 2). The mortality at 6 months was similar in the 2 groups (the rate of death = 30% in group 1 vs 13.8% in group 2, p = 0.07). However, the mortality was lower in the group with preserved residual diuresis (35.3% vs 64.7% in the group without residual diuresis, p = 0.02). The mortality was higher in diabetes patients (64.7% vs 35.5%, p = 0.02). It was concluded that twice or threefold weekly treatment have some considerable similar outcomes on the patients survival (at 6 months).

Even with substantial advances in cardiovascular therapy, the morbidity and mortality rates of diabetic cardiomyopathy (DCM) continually increase. Hence, a feasible therapeutic approach is urgently needed. Objectives. This work is aimed at systemically reviewing literature and addressing cell targets in DCM through the possible cardioprotection of G. lucidum through its antioxidant effects by using the Open Targets Platform (OTP) website. Methods. The OTP website version of 19.11 was accessed in December 2019 to identify the studies in DCM involving G. lucidum. Results. Among the 157 cell targets associated with DCM, the mammalian target of rapamycin (mTOR) was shared by all evidence, drug, and text mining data with 0.08 score association. mTOR also had the highest score association 0.1 with autophagy in DCM. Among the 1731 studies of indexed PubMed articles on G. lucidum published between 1985 and 2019, 33 addressed the antioxidant effects of G. lucidum and its molecular signal pathways involving oxidative stress and therefore were included in the current work. Conclusion. mTOR is one of the targets by DCM and can be inhibited by the antioxidative properties of G. lucidum directly via scavenging radicals and indirectly via modulating mTOR signal pathways such as Wnt signaling pathway, Erk1/2 signaling, and NF-κB pathways.

Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular disorders, caused by mutations in the dysferlin gene and characterized by a high degree of clinical variability even though within the same family. This study aims to describe three cases, belonging to a consanguineous Tunisian family, sharing a new splicing mutation in the dysferlin gene and presenting intra-familial variability of dysferlinopathies: Proximal–distal weakness and distal myopathy with anterior tibial onset. We performed the next generation sequencing for mutation screening and reverse transcriptase-PCR for gene expression analysis. Routine muscle histology was used for muscle biopsy processing. The clinical presentation demonstrated heterogeneous phenotypes between the three cases: Two presented intermediate phenotypes of dysferlinopathy with proximal–distal weakness and the third had a distal myopathy with anterior tibial onset. Genetic analysis yielded a homozygous splicing mutation (c.4597-2A>G) in the dysferlin gene, giving rise to the suppression of 28 bp of the exon 43. The splicing mutation found in our family (c.4597-2A>G) is responsible for the suppression of 28 bp of the exon 43 and a wide clinical intra-familial variability.

BACKGROUND AND OBJECTIVES The occurrence of multi-drug resistance (MDR) Escherichia coli is one responsible for raised mortality and morbidity and was reported as major health problem. Class 1 integrons has crucial role in distributing antibiotic resistance genes among bacteria. Present work was aimed to determine the prevalence of class 1 integrons and its association with antibiotic resistance in MDR E. coli isolated from patient's body fluid and tissues from 6 health centers in Sana'a, Yemen. MATERIALS AND METHODS A cross-sectional study a total of 198 E. coli from patients diagnosed with infection that had been referred to 6 hospitals and medical diagnostic from July, 2017 to August, 2017 in Sana'a, Yemen. Susceptibility of E. coli isolates to 15 antibiotics using the disc diffusion method. Conventional polymerase chain reaction was used for detection of class 1 of integrons in 100 randomly selected MDR E. coli. RESULTS Overall 174 (87.9%) of 198 E. coli isolates were MDR. Class 1 integrons were detected in 67% of the randomly selected 100 of 198 MDR E. coli. A significant range (p

The aim was to describe the profile of workers with occupational multi-site musculoskeletal disorders (MSMSD) and study the relationship between these lesions and socio-professional factors. This is a cross-sectional study involving 254 subjects with occupational musculoskeletal disorders (MSD), identified in the Department of Occupational Medicine at the University Hospital of Mahdia, in Tunisia, over a period of 10 years from 2005 to 2014. The study population was subdivided into two groups; mono-site MSD and multi-site (≥2 sites) groups. Data collection was based on a questionnaire prepared beforehand and covered the description of sociodemographic and professional characteristics. To study psychosocial constraints at work, we have used the Karasek questionnaire. MS-MSD was correlated to the number of dependent children (p=0.02), job/place of work (p=0.00), qualification (p=0.02), taking a rest period (p=0.03), decision latitude (p=0.00), mental demands (p=0.002), social support (p=0.00) and job stress (p=0.04). After binary logistic regression, MS-MSD depended significantly on the number of dependent children (p=0.013; OR=0,33; IC=0,17-0,83), working spouse (p=0.05; OR=0.35; IC=0.12-0.99), job/place of work (p=0.00; OR=4.16; IC=1.95-8.88), qualification (p=0.008; OR=0.28; IC=0.11-0.72), taking a break during work (p=0.04; OR=3.10; IC=1.04-9.22) and social support (p=0.00; OR=7,1; IC=1,9-25,3). When individual risk factors are fixed, the prevention of MS-MSD must target modifiable levers, related to the professional environment of the employees.

The aim of the present study is to analyze the clinical and epidemiological characteristics of Traumatic Brain Injury (TBI) following Road Traffic Accidents (RTAs). Moreover, we aim to evaluate the outcome of the TBI victims referred to our medico-surgical Intensive Care Unit (ICU), and to define predictive factors associated with poor prognosis.A retrospective study over a 4-year period (2009 to 2012) of 694 patients with head injuries, incurred during road traffic accidents, admitted to the Intensive Care Unit (ICU) of a university hospital (Sfax-Tunisia). Basic demographic, clinical, biological, and radiological data were recorded on admission and during the ICU stay.There were 592 males (85.3%), and 102 female patients. The mean age was at 31.8 ± 17.8 years (range 1-91). The mechanism of the accident was detailed in 666 patients (96%). The majority of the victims were motorcycle riders and/or passengers (40.5%), followed by pedestrians (29.1%). Extra-cranial pathology was present in 452 patients (65%). A total of 677 patients (97.6%) required intubation, mechanical ventilation, and sedation. Mean ICU stay was 16 ± 17.4 days. A total of 187 patients (26.9%) died during their hospital stay. The GOS performed within a mean delay of 6 months after hospital discharge was as follows: 198 deaths (28.5%), 13 vegetative state (1.9%), and 349 (50.3%) good recovery and/or moderate disability. A multivariate analysis showed that the factors which correlated with a poor prognosis (mortality and severe disability) were: age 38 years, Glasgow coma scale score 8, subdural hematoma, and development of secondary systemic insults (respiratory, circulatory, and metabolic).In Tunisia, traumatic brain injury due to RTAs is a frequent cause of ICU admission, especially among young adults, and is associated with high mortality and morbidity rates. The majority of the victims were motorcycle riders and/or passengers and pedestrians. The factors associated with a poor outcome were: age 38 years, Glasgow Coma Scale score 8, subdural hematoma, and development of secondary systemic insults (respiratory, circulatory, and metabolic). As a consequence, prevention is highly warranted.

Multiple sclerosis (MS) is one of the most common neurological diseases in young people. This paper dealt with an automatic biomedical aided tool involving volumetric segmentation of multiple sclerosis lesions. To meet this challenge, our proposed methodology requires one preliminary cerebral zones segmentation performed using a new Gaussian mixture model based on various databases atlases. Afterward, lesion segmentation begins with the estimation of a lesion map, which is then subjected to threshold constraints and refined by a new lesion expansion algorithm. The evaluation was carried out on four clinical databases integrating various clinical cases which had different lesion loads and were presented by a set of MRI modalities at several noise levels. The results compared with those of the existing methods proved excellent cerebral segmentation with dice averages close to 0.8 and sensitivity and specificity averages greater than 0.9. In addition, depending on the used database, the lesion segmentation recorded mean values were close to or greater than 0.8 for the different metrics. The detection error and outline error averages were about 0.3. Besides the ability to identify the lesions affecting the different parts of the brain, even those spreading in the gray matter, the proposed methodology identified the lesions cores and their surrounding vasogenic edema. This has been thoroughly tested and validated by highly qualified radiologists and neurologists. The evaluation of the resulting discriminations recorded values close to or greater than 0.9 for dice, sensitivity, and specificity. As a valuable benefit, a computer aided diagnosis tool could be offered to clinicians. It would help efficiently during the MS diagnosis and avoid several confusions. Besides, it could be used for longitudinal survey and henceforth extends to other pathologies that could be explored by MRI modalities, such as glioblastoma or alzheimer's disease.

Purpose Drug rash with eosinophilia and systemic symptoms (DRESS) is a serious adverse drug reaction. Carbamazepine is the most common causes of this syndrome. The HLA-A*31:01 allele has been shown to be strongly correlated with carbamazepine-induced DRESS syndrome in European, Japanese, Han Chinese and other asian population but not in African populations. So, our purpose is to study there is a correlation between HLA-A*31:01 and carbamazepine-induced DRESS syndrome in africain population? Methods HLA class I (A and B) typing was performed on 7 subjects with carbamazepine-DRESS syndrome and 25 tolerants controls subjects. DNA typing HLA class I (A) alleles was checked by the polymerase chain reaction amplification Sequence Specific Oligonucleotide Probes (SSO) (reverse-SSO assay). High resolution HLA DNA Kit based on the Luminex technology (One Lambda ® ) was used according to the manufacturer's protocol. Results The HLA-A*31:01 allele, which has a prevalence of 1% in Tunisian population, was significantly associated with DRESS syndrome. It was detected in 57.14% of cases (4/7) and only 4% of controls subjects (1/25). Thus, the carrier frequency of HLA-A*31:01 allele in the cases group was also significantly higher than in the controls group (57, 14% vs 4% P = 0,004). Odds ratio is estimated 32 (OR = 32 [2.6; 389.2]) Conclusion Similarly to other ethnicities, the presence of the HLA-A*31:01 allele was associated with carbamazepine-DRESS syndrome in a sample of North African population. Future study must be conducted on a larger sample in order to confirm these results.

The goals of this study are to analyze the clinical pregnancy rate as a function of the pre-intracytoplasmic sperm injection (ICSI) oocyte spindle angle and determine factors which can be associated with different spindle angles, if clinically relevant.Fifty-eight patients, who underwent their first ICSI cycle from January to December 2013, were included. Eight hundred thirty oocytes were collected, and 648 were metaphase II (MII) on retrieval day. Spindles were characterized in terms of visibility and position in relation to the first polar body (PB). Oocytes were separated into four groups based on angle: (group 1, n = 297) 0°-29°; (group 2 n = 212) 30°-89°; (group 3, n = 72) ≥90°; and those with no visible spindle (group 4, n = 67).The rate of blastocyst development was associated with the spindle angle (p = 0.002). The rate of good quality blastocysts were as follows: group 1 (42%), group 2 (30%), group 3 (35%), and group 4 (19%) (p = 0.02). Pregnancy and live birth rates were also affected (p = 0.007 and p = 0.046, respectively). Antral follicle count (AFC) (p = 0.001), total FSH stimulating dose (p = 0.0001), and peak serum estradiol level (p = 0.0001) were associated with spindle angle grouping. Miscarriage rates trended different (p = 0.07). On the other hand, day 3 follicle-stimulating hormone (FSH) levels and female and male age were not associated with spindle angle grouping.Embryos resulting from oocytes with pre-ICSI spindle angles between 0° and 29° were associated with better blastocyst, pregnancy, live birth, and miscarriage rates when compared to oocytes that had no visible spindle. Low ovarian reserve and excessive stimulation were also associated with lack of spindle and therefore lower pregnancy outcomes.

17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) is expressed almost exclusively in the testis and converts Δ4-androstene-3,17-dione to testosterone. Mutations in the HSD17B3 gene causing 17β-HSD3 deficiency are responsible for a rare recessive form of 46, XY Disorders of Sex Development (46, XY DSD). We report novel cases of Tunisian patients with 17β-HSD3 deficiency due to previously reported mutations, i.e. p.C206X and p.G133R, as well as a case with the novel compound heterozygous mutations p.C206X and p.Q176P. Moreover, the previously reported polymorphism p.G289S was identified in a heterozygous state in combination with a novel non-coding variant c.54G>T, also in a heterozygous state, in a male patient presenting with micropenis and low testosterone levels. The identification of four different mutations in a cohort of eight patients confirms the generally observed genetic heterogeneity of 17β-HSD3 deficiency. Nevertheless, analysis of DNA from 272 randomly selected healthy controls from the same geographic area (region of Sfax) revealed a high carrier frequency for the p.C206X mutation of approximately 1 in 40. Genotype reconstruction of the affected pedigree members revealed that all p.C206X mutation carriers harbored the same haplotype, indicating inheritance of the mutation from a common ancestor. Thus, the identification of a founder effect and the elevated carrier frequency of the p.C206X mutation emphasize the importance to consider this mutation in the diagnosis and genetic counseling of affected 17β-HSD3 deficiency pedigrees in Tunisia.

Objective: The aim of this work was to establish human leukocyte antigen (HLA) class I and hereditary hemochromatosis gene (HFE) mutation associations with recurrent aphthous oral ulcers (RAOU) and Behçet disease (BD) in a cohort of Southern Tunisian patients. Subjects and Methods: A total of 232 patients with RAOU and 123 healthy controls (HCs) were enrolled in this study. The patients were divided into 2 groups based on the presence (BD+: n = 62) or absence of BD (BD−, n = 170). In the BD+ group, 28 patients had severe manifestations of BD. In the BD- group, RAOU was isolated in 81 patients, associated with mucocutaneous manifestations in 58 and with joint symptoms in 25. Complement-dependent microlymphocytotoxicity assay and polymerase chain reaction-restriction fragment length polymorphism were used to study HLA class I polymorphism and HFE mutations, respectively. Results: HLA-B51 was positively associated with BD, particularly in those with severe manifestations. No association was detected with HLA class I polymorphism among the BD group. Based on stratification to clinical manifestations, the isolated RAOU was negatively associated with HLA-A1 with a difference close to significance (12 [14.81%] vs. 32 [26.02%] in HCs; p = 0.06). Furthermore, patients with mucocutaneous features had a higher frequency of HLA-B51 (14, 24.14%) than patients without mucocutaneous involvement (11, 11.37%). Considering HFE mutations, patients with isolated RAOU had a higher frequency of H63D when compared with other subgroups, especially after limiting the comparison to 27 patients of at least 5 years of follow-up. Conclusion: This study showed that, unlike BD, RAOU were not associated with HLA-B51. Moreover, we suggest that H63D mutation was positively associated with isolated RAOU.

The diagnosis and the treatment of rare phenotypes remain a problematic situation in many countries especially in Tunisia. Individuals with rare phenotype may develop clinically significant red cell antibodies directed against the high incidence Antigens they lack. A 35 years old patient was referred to our laboratory to explain a high incidence (twelve) of recurrent miscarriage during the first and second terms of pregnancy. This patient was grouped as O Rhesus: 1, -2, -3, 4, 5 K:-1. In her plasma we identified a pan-reactive anti-PP1PK antibody (anti-Tja) recognized to be responsible of spontaneous recurrent abortions. The red cell phenotype was P1 and Tja negative. More investigations concluded to the absence of auto and other allo-antibodies association. Therapeutic plasmapheresis from early stages was suggested for the future pregnancy to remove anti-public antibodies in order to maintain normal placenta functions. The Anti-Tja antibody, naturally occurring in patients with rare p phenotype, has the ability to induce recurrent spontaneous miscarriages and to cause immediate hemolytic transfusion reactions. Despite the absence of compatible donors in her family, this patient is not in an impasse situation because two donors with the same phenotype were identified when investigating a first case in 2013.

Lung abscess is uncommon in children. We report the case of a 6-month-old boy with pulmonary abscesses affecting more than one lobe with bronchial fistulas, which were refractory to medical treatment. We describe the surgical management and outcome.

BackgroundTuberculosis (TB) is a public health problem worldwide. Characterizing its trends over time is a useful tool for decision-makers to assess the efficiency of TB control programs. We aimed to give an update on the current chronological trends of TB in Southern Tunisia from 1995 to 2016 and to estimate future trajectories of TB epidemic by 2030.MethodsWe retrospectively collected data of all notified TB new cases by the Center of Tuberculosis Control between 1995 and 2016 in South of Tunisia. Joinpoint Regression Analysis was performed to analyze chronological trends and annual percentage changes (APC) were estimated.ResultsIn the past 22 years, a total of 2771 cases of TB were notified in Southern Tunisia. The annual incidence rate of TB was 13.91/100,000 population/year. There was a rise in all forms of TB incidence (APC = 1.63) and in extrapulmonary tuberculosis (EPTB) (APC = 2.04). The incidence of TB increased in children and adult females between 1995 and 2016 (APC = 4.48 and 2.37, respectively). The annual number of TB declined in urban districts between 2004 and 2016 (APC = -2.85). Lymph node TB cases increased (APC = 4.58), while annual number of urogenital TB decreased between 1995 and 2016 (APC = -3.38). Projected incidence rates would increase to 18.13 and 11.8/100,000 population in 2030 for global TB and EPTB, respectively.ConclusionsOur study highlighted a rise in all forms of TB and among high-risk groups, notably children, females and lymph node TB patients in the last two decades and up to the next one.

Background E-cadherin is a major component of adherens junctions that regulates cell shape and maintains tissue integrity. A complete loss or any decrease in cell surface expression of E-cadherin will interfere with the cell-to-cell junctions’ strength and leads to cell detachment and escape from the primary tumor site. In this prospective study, three functional single nucleotide polymorphisms (−347G/GA, rs5030625; −160C/A, rs16260; +54C/T, rs1801026), were found to modulate E-cadherin expression. Methods 577 DNA samples from breast cancer (BC) cases were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP). Results We detected no significant correlations between each polymorphism and the clinical parameters of the patients whereas the GACC haplotype was significantly associated with low SBR grading. Overall survival analysis showed that both −347G/G and +54C/C wild (wt) genotypes had a significantly worse effect compared to the other genotypes (non-wt). Moreover, carrying simultaneously both the −347 and +54 wt genotypes confers a significantly higher risk of death. However, with metastatic recurrence, the death-rate was null in patients carrying the non-wt genotypes, and attained 37% in those carrying the wt genotype. A multivariate analysis showed that these two polymorphisms are independent prognostic factors for overall survival in BC patients. Conclusions Our results support the fact that E-cadherin genetic variants control disease severity and progression and could be a marker of disease outcome. These findings could be useful in selecting patients that should be monitored differently.

Objective: To describe the results of increasing availability and quality of caesarean deliveries and anaesthesia in rural Tanzania. Design: Before-after intervention study design. Settings: Rural Tanzania. Methods: Ten health centres located in rural areas were upgraded to provide comprehensive emergency obstetric care (CEmOC) and the four related district hospitals were supported. Upgrading entailed constructing and equipping maternity blocks, operation rooms and laboratories; installing solar systems, backup generators and water supply systems. Associate clinicians were trained in anaesthesia and in CEmOC. Mentoring and audit of reasons for caesarean section (CS) and maternal deaths were carried out. Measures of interest were compared using analysis of variance (ANOVA) statistical tests. Main outcome measures: Trends in CS rates, proportion of unjustified CS, use of spinal anaesthesia, and the risk of death from complications related to CS and anaesthesia. Results: During the audit period (2012–2014), 5868 of 58 751 deliveries were by CS (10%). The proportion of CS considered to be unjustified decreased from 30 to 17% in health centres (P�=�0.02) and from 37 to 20% in hospitals (P�

To determine the outcome of microsurgical excision of selected unruptured brain arteriovenous malformations (AVMs), and to compare the results with those of the ARUBA trial.Prospective data collection for all patients undergoing microsurgical excision of unruptured brain AVMs by two neurovascular surgeons. Outcome measures similar to those assessed in the ARUBA trial (death and stroke) as well as modified Rankin scores (mRS) at 6 months were assessed.Between September 2004 and September 2014, 45 patients with unruptured brain AVMs underwent microsurgical excision. 11 patients (eight children and three with mRS2 at presentation) were excluded to match ARUBA eligibility criteria. 34 patients were included in this study. AVM characteristics closely matched those in the ARUBA trial with 70.5% Spetzler-Martin (SM) grade I or II AVMs, 68% AVM size 3 cm. However, compared to ARUBA, a larger proportion of our patients presented with seizures, and a lower proportion with headaches. 8(23%) had preoperative embolization. There were no deaths and no strokes (as defined in ARUBA). 5 (14.7%) had permanent neurological deficit related to surgery within/near eloquent cortex. At 6 months follow-up, 32 (94%) had mRS score of 0-1. Two (6%) had mRS 2 and none had mRS 2. Postoperative digital DSA confirmed complete AVM excision in all cases. None of the patients have suffered intracranial hemorrhage during the follow-up period of 6-126 (median 69) months.Microsurgical excision of unruptured brain AVMs can be performed with low morbidity in selected cases. Our study has limitations particularly the small number of patients with selected AVMs for microsurgical excision. However, our results suggest that ARUBA results may not be applicable to microsurgical excision when cases are appropriately selected for this treatment modality.

Pemphigus foliaceus (PF) is a rare autoimmune skin disease caused by anti-Dsg1 pathogenic autoantibodies. It is considered as a Th2-mediated disease. Likewise, Th17 cells were recently described in the pathogenesis of the disease but their role is still unclear. We aimed to unravel the eventual implication of the IL23/Th17 pathway in the development of PF. A case-control study was conducted on 115 PF patients and 201 healthy controls using PCR-RFLP and AS-PCR methods. SNPs in IL23R, RORγt, IL17A, IL17F, IL17AR, TNFa, and STAT3 genes were genotyped. mRNA expression of IL23R and RORγt was evaluated using Q-PCR. The frequency of circulating Th17 cells was analyzed by flow cytometry. Genetic associations between IL23R>rs11209026, IL17A>rs3748067, IL17F>rs763780, and TNFa>rs1800629 and the susceptibility to PF were reported. Moreover, we revealed a significant increased frequency of circulating CD4+IL17+ cells as well as higher mRNA levels of RORγt and IL23R in PBMCs of patients. However, no significant increase of RORγt and IL23R mRNA expression was observed in lesional skin biopsies. In spite of the little size of specimens, our results provide converging arguments for the contribution of the IL23/Th17 pathway in the pathogenesis of PF.

This study investigates a novel classification method for 3D multimodal MRI glioblastomas tumor characterization. We formulate our segmentation problem as a linear mixture model (LMM). Thus, we provide a nonnegative matrix M from every MRI slice in every segmentation process’ step. This matrix will be used as an input for the first segmentation process to extract the edema region from T2 and FLAIR modalities. After that, in the rest of segmentation processes, we extract the edema region from T1c modality, generate the matrix M, and segment the necrosis, the enhanced tumor, and the nonenhanced tumor regions. In the segmentation process, we apply a rank-two NMF clustering. We have executed our tumor characterization method on BraTS 2015 challenge dataset. Quantitative and qualitative evaluations over the publicly training and testing dataset from the MICCAI 2015 multimodal brain segmentation challenge (BraTS 2015) attested that the proposed algorithm could yield a competitive performance for brain glioblastomas characterization (necrosis, tumor core, and edema) among several competing methods.

Autosomal Dominant Polycystic Kidney Disease (ADPKD), the most frequent genetic disorder of the kidneys, is characterized by a typical presenting symptoms include cysts development in different organs and a non-cysts manifestations. ADPKD is caused by mutations in PKD1 or PKD2 genes. In this study, we aimed to search for molecular causative defects among PKD1 and PKD2 genes. Eighteen patients were diagnosed based on renal ultrasonography and renal/extra-renal manifestations. Then, Sanger sequencing was performed for PKD1 and PKD2 genes. Multiplex Ligation dependent Probe Amplification method (MLPA) methods was performed for both PKD genes. Mutational analysis of the PKD2 gene revealed the absence of variants and no deletions or duplications of both PKD genes were detected. But three novels mutations i.e. p.S463C exon 7; c. c.11156+2T>C IVS38 and c.8161-1G>A IVS22 and two previously reported c.1522T>C exon 7 and c.412C>T exon 4 mutations in the PKD1 gene were detected. Bioinformatics tools predicted that the novel variants have a pathogenic effects on splicing machinery, pre-mRNA secondary structure and stability and protein stability. Our results highlighted molecular features of Tunisian patients with ADPKD and revealed novel variations that can be utilized in clinical diagnosis and in the evaluation of living kidney donor. To the best of our knowledge, this is the first report of Autosomal Polycystic Kidney Disease in Tunisia.

Magnetic resonance cholangiopancreatography is a non-invasive imaging, highly performant in detecting and locating biliary stenosis and in predicting its malignancy. The combination of two and three-dimensional MRI sequences is recommended to assess a biliary obstacle. Cholangiopathies are the main differential diagnosis of cholangiocarcinomas. In addition to bile duct abnormalities beyond the stenosis, the predictive signs of malignancy are: asymmetric irregular luminal narrowing (longer than 3mm and thicker than 13mm), abrupt discontinuation of stenosis, and enhancement superior to that of the adjacent hepatic parenchyma during arterial and portal acquisitions. Diffusion sequences improve the sensitivity of biliary stenosis detection. Moreover, restriction of diffusion is useful for distinguishing malignant from benign stenosis. Combining Magnetic resonance cholangiopancreatography, late LAVA and diffusion sequences improves the sensitivity of detection of a possible biliary extension without significant specificity. MRI with gadolinium chelate injection is efficient in assessing vascular extension of cholangiocarcinomas. However its accuracy remains lower than that of Ct-scan. To assess hepatic, lymphatic and peritoneal extensions of cholangiocarcinomas, it is fundamental to combine diffusion and dynamic MRI sequences.

Previous genomewide association studies (GWAS) and meta-analyses have enumerated several genes/loci in major histocompatibility complex region, which are consistently associated with rheumatoid arthritis (RA) in different ethnic populations. Given the genetic heterogeneity of the disease, it is necessary to replicate these susceptibility loci in other populations. In this case, we investigate the analysis of two SNPs, rs13192471 and rs6457617, from the human leukocyte antigen (HLA) region with the risk of RA in Tunisian population. These SNPs were previously identified to have a strong RA association signal in several GWAS studies. A case–control sample composed of 142 RA patients and 123 healthy controls was analysed. Genotyping of rs13192471 and rs6457617 was carried out using real-time PCR methods by TaqMan allelic discrimination assay. A trend of significant association was found in rs6457617 TT genotype with susceptibility to RA ( $$P = 0.04$$ , $$p_{c} = 0.08$$ , $$\hbox {OR} = 1.73$$ ). Moreover, using multivariable analysis, the combination of rs6457617*TT–HLA-DRB1* $$04^{+}$$ increased risk of RA ( $$\hbox {OR} = 2.38$$ ), which suggest a gene–gene interaction event between rs6457617 located within the HLA-DQB1 and HLA-DRB1. Additionally, haplotypic analysis highlighted a significant association of rs6457617*T–HLA-DRB1* $$04^{+}$$ haplotype with susceptibility to RA ( $$P = 0.018$$ , $$p_{c} = 0.036$$ , $$\hbox {OR} = 1.72$$ ). An evidence of association was shown subsequently in $$\hbox {antiCCP}^{+}$$ subgroup with rs6457617 both in T allele and TT genotype ( $$P = 0.01$$ , $$p_{c} = 0.03$$ , $$\hbox {OR} = 1.66$$ and $$P = 0.008$$ , $$p_{c} = 0.024$$ , $$\hbox {OR} = 1.28$$ , respectively). However, no association was shown for rs13192471 polymorphism with susceptibility and severity to RA. This study suggests the involvement of rs6457617 locus as risk variant for susceptibility/severity to RA in Tunisian population. Secondly, it highlights the gene–gene interaction between HLA-DQB1 and HLA-DRB1.

Post-streptococcal glomerulonephritis (PSGN) is a frequent cause of acute nephritis in children. This study aimed to describe the epidemiology, clinical characteristics and outcomes of PSGN and look for predictor's factors of severity.A 12-year retrospective review of case notes and laboratory data was conducted at a department of pediatrics, pediatric emergency and intensive care, Hedi Chaker Hospital.One hundred seventy eight children were treated for PSGN with a mean age of 7.6 ans±3.43 ans. One hundred and forty-two patients (80%) had a history of a recent upper respiratory tract or skin infection. Streptococcal pharyngitis was the most common cause, identified in 113 patients (67.6%). Macroscopic hematuria and edema were noted in 135 (75.8%) and 114 cases (64%) respectively. Hypertension was present in 55 patients (31%). Oliguria was noted in 30 children (16.8%). Sixty-six subjects (37%) developed acute renal impairment (creatinine≥70 micromoles/L). No correlation was demonstrated between acute renal impairment and age, sex, triggering infection, anemia and white blood cell count. Creatinine greater than 56.35 micromoles/L was associated with a high risk of developing high blood pressure. The mean length of admission was 5.8 days±4.44. Only one subject has ongoing renal dysfunction.PSGN remains a common nephropathy in our region. The detection and effective treatment of any infection that may be involved can reduce the incidence of this disease.

International audience; Background: The investigation of copy number variations (CNVs) analysis of candidate genes is currently an important research area in modulating human diseases. We aimed to quantify CNVs in glutathione S-transferase M1 (GSTM1) gene and determine its genetic contribution in Tunisian rheumatoid arthritis (RA) and its subsets through an innovative technique for quantification. Methods: A total of 165 RA cases and 102 healthy controls were included in the study. Using a recently powerful approach of digital droplet PCR (ddPCR), we quantified GSTM1 gene to determine the presence of no, one, or multiple copy number (CN) at high levels of sensitivity and specificity. Odds ratio and Fisher exact test were performed to estimate the association risk for GSTM1CNVs in RA. Results: Copy number identified by ddPCR was 0, 1, and 2 copies per diploid genome. A high frequency of ‘0’ copy was revealed with 54% in RA patients. The deletion (‘0’ copy) of GSTM1 was found to be a significant risk factor for anti-cyclic citrullinated peptide (anti-CCP) positive RA (OR=4.16, CI95%=[1.17-14.7]). In addition, a lack of association was found when comparing between the CNVs of RA patients and those of controls. Conclusion: This study highlights the powerful accuracy of ddPCR for the quantification of CNVs and suggests that the variation in the CN of GSTM1 is associated with anti-CCP positivity in RA. However, it does not indicate a specific role in the susceptibility to the disease in our Tunisian sample. © 2017 Wiley Periodicals, Inc.

Aim The aim of the present study was to characterize the molecular basis of complement factor I deficiency in Tunisian atypical haemolytic and uremic syndrome patients with low factor I levels. Methods Six adults and seven children were enrolled in this study. Complement factor I levels were assessed by a homemade sandwich ELISA and ranged between 12.5% and 60%. Genomic DNA was amplified by way of a polymerase chain reaction using intronic primers flanking the 13 coding exons. Sequencing of amplified products was carried out by the dye terminator sequencing method. Molecular study was performed on parental samples for three dead paediatric patients. The control group consisted of 100 healthy Tunisian donors. Results We identified a total of 13 substitutions and one insertion: seven in introns, four in exons and three in UTR. The new mutations were c.-132G > C, c.71 + 181 T > A in 5'UTR and intron 1, respectively. Three intronic polymorphisms were predicted to have impact on splicing events: c.482 + 6C > T, c.884-42_884-41insTTAAA (rs34422850) and c.1429 + 33 A > G (rs9998151). They were three missense mutations leading to a p.Ile 357Met, p.Ile416Leu and p.GLu548Gln. p.Ile 357Met was found in two patients and one relative. Half of the patients had associated mutation and/or polymorphisms. Conclusion This is the first genetic study in Tunisian and Maghrebin atypical haemolytic and uraemic syndrome patients. The high occurrence of Ile357Met mutation may reflect a founding effect. Functional impact of the two new mutations c.-132G > C and c.71 + 181A > T have to be studied. Association of simultaneous genetic abnormalities may explain the variability of atypical haemolytic and uraemic syndrome, penetrance and disease phenotype.

International audience; Primary immunodeficiencies (PIDs) are a large group of diseases characterized by susceptibility to not only recurrent infections but also autoimmune diseases and malignancies. The aim of this study was to describe and analyze the distribution, clinical features and eventual outcome of PID among Tunisian patients. We reviewed the record of 710 patients diagnosed with Primary Immunodeficiency Diseases (PIDs) from the registry of the Tunisian Referral Centre for PIDs over a 25-year period. The male-to-female ratio was 1.4. The median age at the onset of symptoms was 6 months and at the time of diagnosis 2 years. The estimated prevalence was 4.3 per 100,000 populations. The consanguinity rate was found in 58.2 % of families. According to the International Union of Immunological Societies classification, spectrums of PIDs were as follows: combined T-cell and B-cell immunodeficiency disorders account for the most common category (28.6 %), followed by congenital defects of phagocyte (25.4 %), other well-defined immunodeficiency syndromes (22.7 %), predominant antibody deficiency diseases (17.7 %), diseases of immune dysregulation (4.8 %), defect of innate immunity (0.4 %) and complement deficiencies (0.4 %). Recurrent infections, particularly lower airway infections (62.3 %), presented the most common manifestation of PID patients. The overall mortality rate was 34.5 %, mainly observed with combined immunodeficiencies. The distribution of PIDs was different from that reported in Western countries, with a particularly high proportion of Combined Immunodeficiencies and phagocyte defects in number and/or function. More is needed to improve PID diagnosis and treatment in our country.

Sagittal sinus thrombosis (SST) induced by chemotherapy is exceptional. We describe here a new case following the fourth cure of chemotherapy based on cisplatin, bleomycin and etoposide in a 16-year-old patient with no obvious risk factors. Through this uncommon case which forms part of cerebral venous sinus thrombosis (CVST), we propose to study the pathophysiology, the diagnosis and the management of this entity. The exclusion of the other causes of CVST is important not only for the therapeutic implication but also for the prognosis. Then, accurate documentation of each case induced by chemotherapy is needed to further understanding.

Summary Objectives Pseudomonas aeruginosa sepsis usually carries a high mortality rate in immunocompromised children. Ecthyma gangrenosum is a known cutaneous manifestation due mainly to Pseudomonas infection with or without septicemia. We describe clinical, biological, and therapeutic data. Patients and methods Of those children admitted to the pediatric intensive care unit, three pediatric cases of community-acquired P. aeruginosa septicemia associated with ecthyma gangrenosum were retrospectively reviewed. Results The three patients were aged 5 months, 9 months, and 1 year. Underlying hypogammaglobulinemia was detected in the oldest patient. Pseudomonas aeruginosa was isolated in all patients in blood and once in cultures of skin lesions and endotracheal aspirate. Two deaths occurred due to septic shock and multisystem organ failure despite numerous aggressive resuscitation attempts. Conclusions P. aeruginosa sepsis should be treated as early as possible. Recognition of ecthyma gangrenosum allows early diagnosis and prescription of adequate antibiotic therapy without awaiting blood culture reports.