Tunisie Medicale最新文献

{"title":"High performance COVID-19 screening using machine learning.","authors":"Youssef Zied Elhechmi, Mehdi Mrad, Mariem Gdoura, Anissa Nouri, Helmi Ben Saad, Najla Ghrairi, Henda Triki","doi":"10.62438/tunismed.v103i1.5401","DOIUrl":"https://doi.org/10.62438/tunismed.v103i1.5401","url":null,"abstract":"<p><p>Since the World Health Organization declared the Coronavirus Disease 2019 (COVID-19) pandemic as an international concern of public health emergency in the early 2020, several strategies have been initiated in many countries to prevent healthcare services breakdown and collapse of healthcare structures. The most important strategy was the increased testing, diagnosis, isolation, contact tracing to identify, quarantine and test close contacts. In this context, finding a rapid, reliable and affordable tool for COVID-19 screening was the main challenge to address the pandemic. Molecular diagnosis by reverse transcriptase polymerase chain reaction (RT-PCR), even though considered as the gold standard in the diagnosis of COVID-19, was time consuming and therefore does not fit the objective of rapid screening. In addition, serological tests to detect anti-severe acute respiratory syndrome coronavirus 2 (SARS-COV-2) antibodies suffered from low sensitivity. Prediction models based on machine-learning (ML) that combined several clinical features to estimate the risk of COVID-19 have been developed. To address these screening challenges, we created a ML model (MLM) based on gradient boosting method. We included several clinical features and the daily geographic prevalence of COVID-19 cases in the MLM. The MLM was trained on 1554 cases (757 COVID-19), and tested on 547 cases (169 COVID-19). Our MLM successfully predicted RT-PCR positivity with an accuracy of 97.06%. Moreover, the variable sensitivity and specificity of our MLM depending on the disease geographic prevalence has introduced the concept of \"dynamic\" disease screening. In the context of future world pandemic emergencies, we believe that this MLM method can be very useful as a rapid, reliable and dynamic screening tool for contagious diseases, especially in the developing countries.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 1","pages":"10-17"},"PeriodicalIF":0.0,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142984961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Work-related open globe injuries: demographic characteristics and prognostic factors in southern Tunisia.","authors":"Amel Ben Abid, Mona Rekik, Sonda Kammoun, Imen Kaibi, Saloua Ben Amor, Amira Trigui","doi":"10.62438/tunismed.v103i1.5073","DOIUrl":"https://doi.org/10.62438/tunismed.v103i1.5073","url":null,"abstract":"<p><strong>Introduction: </strong>Work-related open-globe injuries are a major cause of preventable vision loss worldwide with a significant socioeconomic impact.</p><p><strong>Aim: </strong>To describe the demographics and clinical characteristics, identify the prognostic factors of work-related open-globe injuries and suggest preventive measures to minimize the incidence of these accidents.</p><p><strong>Methods: </strong>A retrospective study of patients hospitalized in the Ophthalmology Department of Habib Bourguiba University Hospital, Sfax, Tunisia, for occupational open-globe injuries, between January 2020 and December 2022. A medical history and a complete ophthalmological examination were performed on all patients. Initial visual acuity (IVA) was systematically measured. We also studied the factors associated with poor final visual acuity (FVA). Poor visual prognosis was defined as an FVA of less than 1/10 six months after the trauma. Statistical analysis was performed using the system of Statistical Products and Services Solution (SPSS 26.0). A p-value less than 0.05 indicated statistical significance.</p><p><strong>Results: </strong>Thirty-three eyes of 33 patients with work-related open-globe injuries were analyzed. The mean age was 39 ± 11.75 years, with male predominance. Almost half of them, 48.5% were welders. Mechanism of injury was penetrating trauma in 72.7% of cases. The mean presenting IVA was 1/25. Corneal wounds were present in 20 cases. Traumatic cataract was the most common associated lesion and was found in 36.4% of the patients. Intraocular foreign body was noted in 24.2%. The mean FVA was 1.6/10. Initial VA (p=0.04) and VH (p=0.004) was the significant predictive factors for final visual outcome in work-related open-globe injury patients.</p><p><strong>Conclusion: </strong>Work-related open-globe injuries are a significant problem commonly encountered in healthcare settings throughout the world. It can cause significant morbidity in a young population of patients. This type of injury can be largely prevented with proper education and use of safety equipment.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 1","pages":"80-85"},"PeriodicalIF":0.0,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The primary mechanisms underlying atopic dermatitis.","authors":"Sara Missaoui, Asmaa Gaadi, Khaoula Oussama, Zahra Adam, Ahmed Aziz Bousfiha, Fouzia Hali","doi":"10.62438/tunismed.v103i1.5220","DOIUrl":"https://doi.org/10.62438/tunismed.v103i1.5220","url":null,"abstract":"<p><strong>Introduction: </strong>Atopic dermatitis (AD) is a complex skin disease frequently linked with other atopic symptoms such allergic rhinitis and asthma. The disease's history consists of persistent relapses with extreme pruritus, which lowers quality of life. AD has become a global health concern as its incidence has increased over the last few decades. It ranks as the third most common dermatologic disorder.</p><p><strong>Aim: </strong>There are several open questions about the mechanisms underlying atopic dermatitis (AD), This review aims to emphasize the recent advances in scientific research regarding the pathophysiologic mechanism of AD and the clinical application of these factors.</p><p><strong>Methods: </strong>A PubMed search was performed using the keywords \"Atopic Dermatitis (AD)\", \"epidemiology\", \"clinical presentation\", \"diagnosis\", \"pathophysiology\", \"genetic defect\", \"impaired skin barrier\", \"immune dysregulation\". The search strategy included meta-analyses, clinical trial, observational studies, and reviews.</p><p><strong>Results: </strong>Atopic dermatitis affects over 2 million children worldwide, with a lifetime incidence of up to 20%. New data suggest that its incidence is still growing, particularly in low-income nations. AD is diagnosed clinically using the patient's medical history, particular clinical symptoms, and the elimination of other non-inflammatory skin conditions. The pathogenesis of AD is extremely complicated and involves several etiologies, including genetics, the microbiome, abnormalities in the skin barrier, along with dysfunctional innate and adaptive immune systems.</p><p><strong>Conclusion: </strong>Recent research has improved our understanding of disease pathophysiology in atopic dermatitis. Current and future clinical trials are expected to continue clarifying this complex and heterogeneous skin disease, and to develop medications that promise more effective therapy, particularly for individuals with limited response to conventional treatments.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 1","pages":"65-72"},"PeriodicalIF":0.0,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of therapeutic adherence to antihyperglycemic agents in patients with type 2 diabetes.","authors":"Bilel Benamor, Hanene Sayadi, Ines Bayar, Aicha Ghachem, Ekram Hajji, Hela Marmouch, Ines Khochtali","doi":"10.62438/tunismed.v103i1.5265","DOIUrl":"https://doi.org/10.62438/tunismed.v103i1.5265","url":null,"abstract":"<p><p>Introduction-Aim: Type 2 diabetes (T2D) is a major public health problem. To succeed its management and prevent its complications, good therapeutic adherence must be ensured. The objectives of our work were to estimate the prevalence of poor therapeutic adherence in our patients and to identify its associated factors.</p><p><strong>Methods: </strong>we conducted a cross-sectional, single-center study that included type 2 diabetic outpatients. Therapeutic adherence to antihyperglycemic agents was assessed by the 8-item Morisky Medication Adherence Scale (MMAS-8).</p><p><strong>Results: </strong>We included 172 patients. The mean age was 59.7±9.5 years. The mean duration of T2D was 11.7±8.5 years. Glycemic targets were achieved in 35% of patients with a mean HbA1c of 8.5±1.8%. The prevalence of poor adherence was 66.1%. Factors associated with poor adherence were age <65 years (p=0.007), low educational level (p=0.026), diabetes follow-up < 2 consultations/year (p=0.004), non-practice of self-monitoring of blood glucose (p=0.008) and ignorance of glycemic targets (p=0.001).</p><p><strong>Conclusion: </strong>Poor adherence affects a large proportion of our T2D patients. In order to improve it, therapeutic adherence should be an important theme in the education of patient.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 1","pages":"98-103"},"PeriodicalIF":0.0,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tunisian recommendations of good practice for the therapeutic management of spondyloarthritis (excluding biological treatment).","authors":"Ahmed Laatar, Saoussen Miladi, Alia Fazaa, Raoudha Tekaya, Aicha Ben Tekaya, Mohamed Manaa, Imen Gharsallah, Nedia Testouri, Khadija Baccouche, Ines Mahmoud, Kaouther Maatallah, Mohamed Younès, Wafa Hamdi, Saoussen Zrour, Mohamed Montacer Kchir","doi":"10.62438/tunismed.v103i1.5565","DOIUrl":"https://doi.org/10.62438/tunismed.v103i1.5565","url":null,"abstract":"<p><strong>Aim: </strong>To develop good practice recommendations (GPR) for the therapeutic management of patients with spondyloarthritis (SpA), including psoriatic arthritis.</p><p><strong>Methods: </strong>Following standardised procedures, a systematic review of the literature was carried out on non-pharmacological and non-biological pharmacological treatments for SpA. The review was based on questions defined by a working group of 15 rheumatologists. The data was evaluated at group meetings, which led to the drafting of recommendations, the assignment of a grade to each recommendation and the determination of the level of agreement between the experts.</p><p><strong>Results: </strong>A general principle and 11 recommendations were developed. The recommendations focus on treatment modalities, taking into account the dominant phenotype (axial, articular peripheral, enthesitic peripheral) and extra-articular manifestations (psoriasis, chronic inflammatory bowel disease (IBD)). The first recommendation concerns therapeutic patient education. Recommendations 2 to 4 focus on NSAIDs as the first-line pharmacological treatment for the various presentations of the disease, with the exception of those associated with IBD, as well as their prescribing modalities. Recommendation 5 deals with analgesics. Recommendation 6 limits the use of glucocorticoids to symptomatic peripheral arthritis and advises against their long-term use. Recommendation 7 deals with radioisotope synoviorthesis for refractory arthritis of the hips and knees. Conventional Synthetic Disease-Modifying AntiRheumatic Drugs (csDMARDs) are not recommended for SpA which is axial, enthesitic or involves dactylitis (recommendation 8). JAK inhibitors are recommended for axial SpA and for joint and skin involvement of psoriatic arthritis in failure of symptomatic treatment, csDMARDs and/or bDMARDs (recommendation 9). The latest recommendations (10-11) concern physical and surgical treatment respectively.</p><p><strong>Conclusion: </strong>These GPR provide a summary of the current state of the literature, with the aim of optimising the management of patients with SpA, thereby improving the quality and safety of care with a better medico-economic approach. Efforts must be made to apply, implement and communicate these recommendations.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 1","pages":"32-43"},"PeriodicalIF":0.0,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Keratoconus in children in Tunisia: Epidemiological, clinical and therapeutic features.","authors":"Sonda Kammoun, Kmar Maaloul, Mona Rekik, Karim Chaabouni, Amira Trigui","doi":"10.62438/tunismed.v103i1.5361","DOIUrl":"https://doi.org/10.62438/tunismed.v103i1.5361","url":null,"abstract":"<p><strong>Aim: </strong>To report the clinical and therapeutic particularities of pediatric keratoconus (KC).</p><p><strong>Methods: </strong>Retrospective study focusing on patients aged less than 18 years, presenting with KC and followed in a tertiary reference center in Sfax, Tunisia.</p><p><strong>Results: </strong>Our study involved 38 eyes of 20 children. We found a mean age of 12.8 years, a family history of keratoconus for 25% of cases and an atopic background in 30% of children. The mean best-corrected visual acuity was 5.3/10, the mean myopia was -6.3D and the mean total astigmatism was -4.9D. The average maximum simulated keratometry (Kmax) was 54.6 D. The visual acuity decrease was correlated with the presence of corneal opacities, with all keratometric indices except Skewed Radial Axes (SRAX) at 3 and 5 mm, with all elevation parameters and those of pachymetry except the delocalization of the thinnest point. 71.1% of eyes were classified as clinical KC and 47% of eyes were classified as Amlser-Krumeich stage 4. 42.1% of eyes were fitted with glasses and 57.9% with contact lenses. Six patients (10 eyes) underwent cross-linking (CXL). We noted an evolution of the KC for 64.29% of eyes not treated with CXL and a stabilization of 80% of eyes treated with CXL. The difference in follow-up parameters between the two groups was significant.</p><p><strong>Conclusion: </strong>Pediatric KC is a severe disease, often diagnosed at a late stage. CXL is a safe and effective way to stop the disease.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 1","pages":"117-123"},"PeriodicalIF":0.0,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of Mesotherapy and Transcutaneous Electrical Nerve Stimulation (TENS) in the Management of Chronic Non-Specific Low Back Pain: A Randomized Clinical Trial.","authors":"Najla Mouhli, Soumaya Belghith, Souad Karoui, Maroua Slouma, Rim Dhahri, Faida Ajili, Rim Maaoui, Hajer Rahali","doi":"10.62438/tunismed.v103i1.5187","DOIUrl":"https://doi.org/10.62438/tunismed.v103i1.5187","url":null,"abstract":"<p><p>Introduction-Aim: Chronic low back pain affects 80% of individuals at some point in their lives and has significant socioeconomic impacts. This study aims to compare the efficacy of mesotherapy with transcutaneous electrical nerve stimulation (TENS) in treating chronic low back pain.</p><p><strong>Methods: </strong>A randomized bicentric study was conducted at the Military Hospital of Tunis and the Multidisciplinary Military Polyclinic of Mefeteh Saadallah between August 2023 and June 2024. Sixty patients (40 men and 20 women) with chronic low back pain were included. Group 1 (TENS) received 6 sessions of neurostimulation twice a week for 3 weeks. Group 2 (mesotherapy) received 3 sessions of mesotherapy. Measurements included pain, analgesic consumption, physical examination, Oswestry Disability Index, Hospital Anxiety and Depression (HAD) score, and patient satisfaction.</p><p><strong>Results: </strong>Out of 293 patients consulted, 60 were included and randomized. Both groups showed significant pain improvement (p<0.001) with no notable difference between them (p=0.05). Analgesic consumption decreased more significantly with mesotherapy (p<0.001). Improvements in physical examination, Oswestry score, and HAD score were significant in both groups without significant differences between them. Patient satisfaction was high in both groups with an average score of 88/100 for TENS and 77/100 for mesotherapy (p=0.154).</p><p><strong>Discussion: </strong>Mesotherapy and TENS are effective in treating chronic low back pain, reducing pain and improving functional and psycho-emotional scores with no significant difference between them. Mesotherapy reduces analgesic consumption more. Further studies are needed to confirm these results.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 1","pages":"73-79"},"PeriodicalIF":0.0,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142984997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tricuspid annular plane systolic excursion/pulmonary arterial systolic pressure ratio as a predictor of outcome in acute heart failure.","authors":"Saoussen Antit, Amal Mrabet, Marwa Fathi, Ridha Fekih, Elhem Boussabeh, Lilia Zakhama","doi":"10.62438/tunismed.v103i1.5365","DOIUrl":"https://doi.org/10.62438/tunismed.v103i1.5365","url":null,"abstract":"<p><p>Introduction Acute heart failure (AHF) is a life-threatening condition that requires swift diagnosis and tailored management to enhance patient outcomes. In the pursuit of more precise prognostic indicators, Tricuspid Annular Plane Systolic Excursion (TAPSE) and Pulmonary Arterial Systolic Pressure (PASP) have emerged as potential significant advancements. The TAPSE/PASP ratio, a novel parameter, has recently gained attention as a promising predictor of outcomes in acute heart failure.</p><p><strong>Aim: </strong>This study delves into the significance of TAPSE/PASP as a predictive tool, shedding light on its potential to revolutionize the landscape of AHF management.</p><p><strong>Methods: </strong>We included 152 patients with AHF. Echocardiographic evaluation for left ventricle systolic and diastolic function was performed at the time of admission. RV functions were evaluated by calculating the following (TAPSE, PASP, TAPSE/PASP ratio). Data were analyzed to find the predictors of mortality and/or rehospitalization.</p><p><strong>Results: </strong>The TAPSE/PASP ratio emerged as a significant independent predictor of clinical outcomes in AHF patients (HR=2.6; 95%CI: 1.04-6.47; p=0.04). Furthermore, it was the sole predictor of rehospitalization for AHF (HR=3.97; 95%CI: 1.38-11.40; p=0.01). It also independently predicted all-cause mortality in AHF, with an HR of 2.73 (95% CI: 1.25-9.12; p=0.03). When evaluating its predictive accuracy, the TAPSE/PASP ratio with a cutoff value <0.35 mm/mmHg demonstrated a sensitivity of 65%, specificity of 70%, and an area under the receiver operating characteristic curve of 0.70 for forecasting adverse outcomes.</p><p><strong>Conclusion: </strong>The non-invasive TAPSE/PASP ratio is an independent predictor of mortality and /or rehospitalization in patients with acute heart failure.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 1","pages":"104-111"},"PeriodicalIF":0.0,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An unusual cause of hypertrophic cardiomyopathy in an infant: A case report and brief literature review.","authors":"Faiza Safi, Manel Feki, Hana Ben Hmadou, Aymen Dammak, Rania Gargouri, Mouna Loukil, Rania Hammami","doi":"10.62438/tunismed.v103i1.5474","DOIUrl":"https://doi.org/10.62438/tunismed.v103i1.5474","url":null,"abstract":"<p><strong>Introduction: </strong>Nemaline myopathy (NM), also known as Nemalinosis, is a rare congenital muscle disease with an incidence of 1 in 50000. It is characterized by nemaline rods in muscle fibers, leading to muscle weakness. We reported a case of NM revealed by cardiac involvement, and we highlighted the challenges in diagnosing this condition as well as its poor prognosis.</p><p><strong>Observation: </strong>The patient is a 7.5-month-old infant from a consanguineous marriage, with a history of bronchiolitis and psychomotor retardation. The infant was admitted to the paediatric intensive care unit due to respiratory distress, which necessitated intubation and mechanical ventilation. A chest X-ray revealed cardiomegaly and bilateral bronchial syndrome, while an electrocardiogram showed left ventricle hypertrophy. Emergency echocardiography revealed biventricular hypertrophy. Laboratory tests indicated significant rhabdomyolysis, hepatic cytolysis, microcytic hypochromic anemia, negative troponins, and respiratory acidosis. The enzymatic activity of acid alpha-glucosidase was inconclusive. Genetic analysis for mutations in exon 2 associated with Pompe disease and congenital muscular dystrophy, the most common differential diagnoses, returned negative results. Given the presence of rhabdomyolysis, the emergence of tongue fasciculations, and pronounced axial and peripheral hypotonia, a muscle biopsy was performed. This revealed the presence of nemaline rods, confirming the diagnosis of NM. The patient's condition deteriorated, marked by extubating failure due to severe muscle weakness. The infant passed away after 50 days of hospitalization.</p><p><strong>Conclusion: </strong>This case underscores the severity and complexity of NM revealed by hypertrophic cardiomyopathy, emphasizing the importance of early diagnosis and prenatal genetic counseling.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 1","pages":"162-166"},"PeriodicalIF":0.0,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142984921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of pathogenic variants of inborn errors of immunity in critically ill children admitted to the pediatric intensive care unit for sepsis: A Moroccan cohort study.","authors":"Ouissal Aissaoui, Abderrahmane Moundir, Asmaa Drissi Boughanbour, Jalila El Bakkouri, Ibtihal Benhsaien, Fatima Ailal, Abdelaziz Chlilek, Emmanuelle Jouanguy, Jean Laurent Casanova, Ahmed Aziz Bousfiha","doi":"10.62438/tunismed.v103i1.5182","DOIUrl":"https://doi.org/10.62438/tunismed.v103i1.5182","url":null,"abstract":"<p><strong>Introduction: </strong>Pediatric sepsis remains a leading cause of morbidity and mortality in Africa. Nearly half of pediatric sepsis deaths occur in previously healthy children. The role of inborn errors of immunity (IEI) in susceptibility to sepsis is yet to be identified and their prevalence amongst previously healthy children admitted to the pediatric intensive care unit (PICU) is unclear. We aimed to assess prevalence of IEI among a cohort of children admitted to the PICU for community acquired sepsis and to describe demographic, microbiological, and genetic features of this cohort.</p><p><strong>Methods: </strong>We listed a cohort of children admitted to our PICU for sepsis from January 2021 to March 2023. Demographic data was collected, and microbiological tests were performed. Written consent was obtained and whole exome sequencing (WES) was performed after DNA extraction.</p><p><strong>Results: </strong>Thirty cases were included. Mean age at admission was 46 months (1-180), microorganisms were identified in 20 cases (66%). Bacterial sepsis was identified in 8 cases, viral sepsis in 6 cases and fungal sepsis in 2 cases. Mean pediatric sequential sepsis related organ failure assessment (pSOFA) score at admission was 6,46 (2-18). Mechanical ventilation was necessary in 18 cases. Inotropes were used in 17 cases and renal replacement therapy initiated in 3 cases. Pathogenic variants of IEI were identified in 5 out of 30 cases (17%). These variants were identified in the following genes BACH2, TLR7, TINF2, NFK2B and MAGT1. Overall mortality was 50% and mean intensive care unit (ICU) stay was 9,26 (1-60) days.</p><p><strong>Conclusion: </strong>Prevalence of pathogenic variants of IEI among children admitted to the PICU for sepsis was 17%. Our study findings support systematic screening of IEI amongst critically ill children admitted to the PICU for sepsis in order to increase our comprehension of sepsis phenotypes and improve outcomes in this group of critically ill children.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 1","pages":"93-97"},"PeriodicalIF":0.0,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985036","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}