Tunisie Medicale最新文献

Introduction: The 22q11.2 deletion syndrome (22q11DS) is an autosomal dominant genetic syndrome, frequently due to a microdeletion located on chromosome 22, presenting a wide variety of clinical manifestations. Cytogenetic methods, such as fluorescence in situ hybridization (FISH), and molecular biology techniques, such as multiplex ligation-dependent probe amplification (MLPA), are used to identify chromosomal deletions specific to the 22q11.2 region.

Aim: This study aimed to describe the first series of pediatric patients in Morocco, selected for their strong suspicion of DiGeorge syndrome.

Methods: As part of a collaboration between the University Hospital Center Hassan II in Fez and the University Hospital Center Abderrahim El Harouchi Ibn Rochd in Casablanca, Morocco, a prospective study was carried out from January 2021 to January 2024 on 30 patients screened for DiGeorge syndrome (DGS). The children included had at least two major signs of DGS. Diagnostic confirmation of 22q11DS was obtained by FISH analysis for all patients. In addition, MLPA analysis was performed on five patients among those confirmed by FISH. The MLPA process included DNA extraction, PCR amplification and capillary electrophoresis, with results analyzed using GeneMapper and Coffalyser software.

Results: Of the 30 patients selected, 22 were confirmed as having a 22q11DS. Among these, 19 had congenital heart disease and 17 had hypocalcemia, which was often associated with hypoparathyroidism. Facial dysmorphia was almost constant, and thymic abnormalities were observed in half the patients. Recurrent infections, hematological disorders and immune abnormalities were also common, underlining the clinical complexity of the syndrome.

Conclusion: Advances in molecular cytogenetics have enabled precise detection of microdeletions associated with 22q11DS, highlighting its global importance, but also revealing regional diagnostic challenges. Larger cohort studies are needed to strengthen the validity of results and improve clinical management approaches.

Introduction: Agenesis of the dorsal pancreas (ADP) is a rare congenital abnormality characterized by the absence of the body and tail of the pancreas. This condition is often asymptomatic. While many patients exhibit nonspecific symptoms, some may experience more severe manifestations complicating the diagnostic process.

Observation: We presented the case of a 27-year-old man who was diagnosed with type 1 diabetes mellitus three years ago. He was experiencing considerable weight loss, abdominal pain, and diarrhea despite effectively managed insulin therapy. The patient appeared emaciated and malnourished. Investigations revealed a normal thyroid function, negative celiac disease serology, and negative pancreatic antibodies. Abdominal imaging demonstrated ADP. After treatment with insulin and pancreatic enzymes, we noted a significant improvement in the patient's condition.

Conclusion: This case emphasizes diagnostic challenges in young patients presenting with pancreatic diabetes. Early recognition and appropriate management are crucial to prevent complications of both exocrine and endocrine deficiencies.

For decades, community participation (CP) in primary health care (PHC) and health programs (HP) has played a crucial role in improving health services and their sustainability. This article examines the successes and challenges of CP in the Intergovernmental Authority on Development (IGAD) region, which includes Djibouti, Ethiopia, Eritrea, Kenya, Somalia, Sudan, South Sudan, and Uganda, focusing on the factors influencing and levels of community engagement. This study employs a scoping review based on the Arksey and O'Malley framework and the IAP2 public participation spectrum. A comprehensive search was conducted in PubMed, Scopus, Web of Science, and Google Scholar for studies published up to April 2024. Relevant articles on CP mechanisms in PHC and HP in the IGAD region were selected. In total, 64 articles were included in this scoping review. The studies highlighted various forms and mechanisms of CP, such as the establishment of community health committees and the mobilization of volunteers. Successes included improvements in disease prevention, crisis management, community resilience, and access to maternal and child health services. However, challenges remain, such as communication gaps, resource limitations, cultural barriers, and political instability. Community participation is essential for the success of health programs in the IGAD region. Although significant progress has been made, persistent challenges must be addressed to optimize the impact and sustainability of CP initiatives.

Introduction: There are no clear data on the incidence and predictors of arterial and venous thromboembolic (TE) events in COVID-19 ambulatory patients.

Aim: We conducted this study to analyze thromboembolic complications in this setting and to compare the efficacy and safety of Rivaroxaban to LMWHs as a thromboprophylaxis treatment.

Methods: This is an observational study including COVID-19 patients treated on an outpatient basis. We analysed the predictors of thromboembolic events.

Results: We included 2089 patients with COVID19 managed on an outpatient basis during the period from October 01, 2020 to December 31, 2021. The mean age of our patients was 43±16 years. The incidence of venous and arterial TE complications was 0.9%. Predictive factors for arteriovenous thromboembolic complications were hormonal contraception (OR=23), moderate clinical form (OR=3.5), recent surgery or miscarriage in the month preceding COVID-19 (OR=9.2) and CT signs of COVID-19 (OR=4.9). In contrast, physical activity proved to be a protective factor. Thromboprophylaxis was prescribed in 22.5% of cases: LMWH in 18.1%, Rivaroxaban in 3.7% and a combination of the two molecules successively in 0.6% of patients. There was no statistical difference in thromboembolic or major bleeding complications between the Rivaroxaban and LMWH groups.

Conclusion: Our study showed that the incidence of thromboembolic complications is very low in Covid-19 ambulatory patients.

Objectives: In Tunisia, despite hemovigilance regulations since 2007, transfusion adverse events (TAEs) remain underreported. Here, we analyze and evaluate the reported TAEs over ten years in the blood transfusion center of Sfax (Tunisia).

Methods: This is a ten-year (2012-2021) descriptive and exhaustive report on TAE from the second largest blood center in Tunisia, where around 56,000 labile blood products are issued annually.

Results: Four-hundred-sixty-four TAEs were reported. The median age of the patients was 38 years (1 month to 94 years). The sex ratio was 0.68. The overall TAE annual incidence per issued labile blood product was 0.77‰ and ranged from 0.47 to 1.43‰. The most common TAE was a febrile non-hemolytic reaction (31.7%), followed by an allergic reaction (21.6%). The severity degree was informed in 433 cases (93.3%). Grade 1 severity was the most common (80.8%), followed by grades 3, 2 and 4 (10.6%, 1.3% and 0.6%, respectively). Packed red blood cells were the most implicated labile blood product (81.5%). Standard platelet concentrates and fresh frozen plasma accounted for 6.5% and 5% of the total adverse transfusion reactions, respectively.

Conclusion: The TAE incidence in our study seems to be underestimated compared to worldwide reported TAEs. The analysis of reported TAEs in our context illustrates the insufficiency of the regulation's implementation alone.

Introduction: Varicocele has a detrimental effect on testicular growth and spermatogenesis, hence the importance of its management. This management remains controversial among Tunisian urologists; diagnostic and therapeutic choices tend to vary from one urologist to another.

Aim: The aim of this survey is to evaluate the practices of Tunisian urologists regarding varicocele management compared to the latest international guidelines.

Methods: A cross-sectional study was conducted among Tunisian urologists, members of the Tunisian Association of Urology, using a computerized questionnaire available online.

Results: The response rate was 51.6%. Approximately 80% of Tunisian urologists reported that they diagnose and manage patients with varicocele at least once a week. Half of the Tunisian urologists use a grading system for classification. Over 75% of Tunisian urologists believe that scrotal ultrasound and semen analysis should be systematically requested. Half of them consider treatment starting from Dubin and Amelar grade 2, while the other half treat from Dubin and Amelar grade 3. The majority agreed that the results of varicocele repair are controversial, with 10% never performing bilateral varicocele repair. The vast majority planned surgical treatment (95%), with sub-inguinal approach and magnification used in only 16% of cases; 25% never froze sperm before varicocele repair.

Conclusion: Recent recommendations had clear messages to promote in terms of diagnosis, therapeutic indications, and modalities. This work highlights the existence of gaps between recommendations on certain aspects of varicocele management, suggesting a review of continuous medical education modalities regarding this pathology in particular.

Introduction: Medical ethics teaching is one of the pillars of medical education. Ethical reasoning learning (ERL) is one of the means of teaching medical ethics.

Objective: The aim of our study was to evaluate the pedagogical interest and the students' perceptions of ERL in directed teaching in internal medicine among fifth-year students.

Methods: This was a cross-sectional study conducted in the Internal Medicine Department of Habib Thameur Hospital during one academic year. The pedagogical interest and the student's perception were evaluated by comparing a pre-test and a post-test filled in by the students, respectively, before and after an ERL session.

Results: Our study included 44 students. Before the ERL session, almost two-thirds of the students (63.6%) found the ERL to be "extremely interesting" in medical training and practice. This extremely high level of educational interest in the ERL was statistically associated with previous participation in ERL sessions among our students. Prior to the ERL session, just over four-fifths of the students (84.1%) had a "favourable" perception of the ERL. After the ERL session, our study noted an improvement in students' pedagogical interest in ERL. Our study also showed an improvement in students' perceptions of the ERL. The improvement in students' pedagogical interest and perception of ERL exceeded 80% after the session.

Conclusion: Our study concluded that there was a significant pedagogical interest and a favourable perception of the students' point of view regarding the ERL in internal medicine- directed teaching among fifth-year medical students.

Background: COVID-19 lockdown measures have profoundly altered lifestyle habits, exposing individuals to significant health risks Aim: This study aims to assess the impact of quarantine measures in Tunisia, with a focus on examining changes in dietary habits, levels of physical activity, psychological patterns, and factors contributing to weight gain.

Methods: This is a cross-sectional study involving 1,016 participants and employed a mixed-methods approach to gather data on dietary habits, physical activity levels, and psychological indicators. Statistical analyses, including binary logistic regression, were conducted to identify independent risk factors associated with weight gain during the quarantine period.

Results: Approximately 36.4% of participants reported experiencing weight gain, with a notable prevalence among younger age groups. Increased consumption of sweets, pasta, and fried foods, coupled with reduced intake of water, vegetables, and fruits, were associated with weight gain. Furthermore, a decline in physical activity levels and elevated scores of anxiety and depression were observed among individuals who reported weight gain. Binary logistic regression highlighted snack frequency, fried food consumption, and pasta intake as significant independent risk factors for weight gain.

Conclusion: The results underscore the importance of understanding the complex impacts of lockdowns on lifestyle habits and mental health to guide future interventions, which are necessary to mitigate adverse health consequences and promote healthy lifestyles in the post-pandemic period.

Aim: To elaborate Tunisian recommendations for the therapeutic management in current practice of patients with spondyloarthritis who are candidates for treatment with a biological agent.

Methods: Following the standardized procedures of the INEAS (Instance Nationale de l'Evaluation et de l'Accréditation en Santé) and in collaboration with the LITAR (Tunisian League against Rheumatism), a systematic review of the literature, carried out by 6 rheumatologists, based on the questions individualized by the working group (15 expert rheumatologists), served as the basis for the working meetings, with determination of the strength of the recommendations and the degree of agreement of the experts. The recommendations were validated by an independent reading group comprising 19 experts from various related specialties.

Results: Ten recommendations for good practice were drawn up. The first 2 recommendations concern the pre-therapeutic assessment and the updating of immunisation status prior to the initiation of biotherapy. Recommendations 3 to 8 deal with the use of biologics, including the new classes, in their indications (active disease despite conventional treatment, and for non-radiographic axial forms, presence of objective signs of inflammation) and follow-up, and their management in the event of failure or in remission. Recommendations 9 and 10 concern management in the event of pregnancy or neoplasia. The strength of the recommendations ranged from 8 to 9, with a degree of agreement of between 72% and 100%.

Conclusion: This work, supported by LITAR and accredited by INEAS, takes into account the data in the literature and the predominant clinical presentation. It offers practical recommendations to physicians to facilitate the management of patients with spondyloarthritis who require the use of biological agents.