Introduction: With the advent of percutaneous nephrolithotomy (PCNL), the use of traditional surgery for the treatment of staghorn kidney stones has become rarer.
Objective: The objective of this study was to report the outcomes of percutaneous nephrolithotomy in the treatment of staghorn kidney stones.
Methods: This is a retrospective longitudinal descriptive and analytical study. It included all patients treated for a staghorn stone who underwent PNL between January 2015 and December 2021.
Results: We included 44 patients. Six patients experienced intraoperative bleeding. We reported the occurrence of postoperative infectious complications in 15 patients. The stone-free rate was 42%. Predictive factors for residual fragments were complete staghorn stone (p=0.02) and large stone volume (p=0.001). Predictive factors for hemorrhagic complications were the use of anticoagulant therapy (p=0.01), renal cavity dilation (p=0.01), complete staghorn stone (p=0.02), and large stone mass (p0.001). Predictive factors for postoperative infectious complications were diabetes (p=0.048), positive preoperative urine culture (p=0.03), renal cavity dilation (p=0.04), complete staghorn stone (p=0.02), and postoperative drainage by ureteral stent (p-0.001).
Conclusion: PCNL is a minimally invasive and effective technique when safety conditions are met, and it has become the standard in the treatment of staghorn stones.
{"title":"Is percutaneous nephrolithotomy an effective and minimally invasive technique in the treatment of staghorn kidney stones?","authors":"Kays Chaker, Nader Gharbia, Yassine Ouanes, Moez Rahoui, Mokhtar Bibi, Yassine Nouira","doi":"10.62438/tunismed.v103i4.5524","DOIUrl":"https://doi.org/10.62438/tunismed.v103i4.5524","url":null,"abstract":"<p><strong>Introduction: </strong>With the advent of percutaneous nephrolithotomy (PCNL), the use of traditional surgery for the treatment of staghorn kidney stones has become rarer.</p><p><strong>Objective: </strong>The objective of this study was to report the outcomes of percutaneous nephrolithotomy in the treatment of staghorn kidney stones.</p><p><strong>Methods: </strong>This is a retrospective longitudinal descriptive and analytical study. It included all patients treated for a staghorn stone who underwent PNL between January 2015 and December 2021.</p><p><strong>Results: </strong>We included 44 patients. Six patients experienced intraoperative bleeding. We reported the occurrence of postoperative infectious complications in 15 patients. The stone-free rate was 42%. Predictive factors for residual fragments were complete staghorn stone (p=0.02) and large stone volume (p=0.001). Predictive factors for hemorrhagic complications were the use of anticoagulant therapy (p=0.01), renal cavity dilation (p=0.01), complete staghorn stone (p=0.02), and large stone mass (p0.001). Predictive factors for postoperative infectious complications were diabetes (p=0.048), positive preoperative urine culture (p=0.03), renal cavity dilation (p=0.04), complete staghorn stone (p=0.02), and postoperative drainage by ureteral stent (p-0.001).</p><p><strong>Conclusion: </strong>PCNL is a minimally invasive and effective technique when safety conditions are met, and it has become the standard in the treatment of staghorn stones.</p><p><strong>Key words: </strong>Kidney stones, Percutaneous nephrolithotomy, Staghorn stones.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 4","pages":"506-510"},"PeriodicalIF":0.0,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146229273","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}
Pub Date : 2025-04-05DOI: 10.62438/tunismed.v103i4.5531
Hela Cherif, Chirine Moussa, Islam Mejri, Salma Mokaddem, Soumaya Debiche, Manel Ben Fradj, Zied Moatemri, Mohamed Ridha Charfi
Introduction: Chronic obstructive pulmonary disease (COPD) is a widespread global health problem marked by chronic inflammation, emphysematous lung damage, and persistent airflow limitation. In COPD, hyperinflation exacerbates respiratory muscle weakness by causing diaphragmatic dysfunction. Diaphragmatic ultrasonography (US) is a non-invasive tool for evaluating diaphragmatic function, which may provide insight into the severity of hyperinflation in COPD. The purpose of this study is to evaluate the effectiveness of diaphragmatic ultrasonography in assessing lung hyperinflation in patients with COPD .
Methods: A diagnostic cross-sectional investigation will be carried out in two Tunisian pulmonology centers. COPD patients aged ≥40 years with confirmed diagnosis via spirometry and stable clinical status will be included. Exclusion criteria are other chronic respiratory diseases, neuromuscular diseases, or obesity. Diaphragmatic ultrasonography and whole-body plethysmography will be performed on the patients. During deep inspiration and forceful expiration, the diaphragmatic thickness and thickening fraction will be measured. RV > upper limit of normal (ULN) indicates lung hyperinflation. Pearson's or Spearman's correlation will be used to assess relationships between plethysmographic parameters and diaphragmatic ultrasound results. Diaphragmatic ultrasonography's diagnostic thershold for hyperinflation will be determined using ROC (receiver operating characteristic) curves.
Conclusion: If proven effective, diaphragmatic ultrasound could be a practical and cost-effective alternative to plethysmography for diagnosing hyperinflation in COPD.
{"title":"Exploring Diaphragmatic Ultrasonography as a Diagnostic Tool for Hyperinflation in COPD Patients: A protocol study.","authors":"Hela Cherif, Chirine Moussa, Islam Mejri, Salma Mokaddem, Soumaya Debiche, Manel Ben Fradj, Zied Moatemri, Mohamed Ridha Charfi","doi":"10.62438/tunismed.v103i4.5531","DOIUrl":"https://doi.org/10.62438/tunismed.v103i4.5531","url":null,"abstract":"<p><strong>Introduction: </strong>Chronic obstructive pulmonary disease (COPD) is a widespread global health problem marked by chronic inflammation, emphysematous lung damage, and persistent airflow limitation. In COPD, hyperinflation exacerbates respiratory muscle weakness by causing diaphragmatic dysfunction. Diaphragmatic ultrasonography (US) is a non-invasive tool for evaluating diaphragmatic function, which may provide insight into the severity of hyperinflation in COPD. The purpose of this study is to evaluate the effectiveness of diaphragmatic ultrasonography in assessing lung hyperinflation in patients with COPD .</p><p><strong>Methods: </strong>A diagnostic cross-sectional investigation will be carried out in two Tunisian pulmonology centers. COPD patients aged ≥40 years with confirmed diagnosis via spirometry and stable clinical status will be included. Exclusion criteria are other chronic respiratory diseases, neuromuscular diseases, or obesity. Diaphragmatic ultrasonography and whole-body plethysmography will be performed on the patients. During deep inspiration and forceful expiration, the diaphragmatic thickness and thickening fraction will be measured. RV > upper limit of normal (ULN) indicates lung hyperinflation. Pearson's or Spearman's correlation will be used to assess relationships between plethysmographic parameters and diaphragmatic ultrasound results. Diaphragmatic ultrasonography's diagnostic thershold for hyperinflation will be determined using ROC (receiver operating characteristic) curves.</p><p><strong>Conclusion: </strong>If proven effective, diaphragmatic ultrasound could be a practical and cost-effective alternative to plethysmography for diagnosing hyperinflation in COPD.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 4","pages":"413-417"},"PeriodicalIF":0.0,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146229234","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}
Pub Date : 2025-04-05DOI: 10.62438/tunismed.v103i4.5548
Hamza Gazzeh, Amal Ghribi, Youssef Zanina, Mohamed Khelil, Ahmed Ben Abdelaziz
Introduction: Generative Artificial Intelligence (AI) has increasingly found its way into scientific medical writing, which can be particularly inappropriate in non-native English-speaking countries. This study aimed to determine the occurrence of AI-generated texts in medical publications originating from the Greater Maghreb countries (Libya, Tunisia, Algeria, Morocco, and Mauritania).
Methods: This was a cross-sectional study that gathered all medical publications indexed on MEDLINE, published in the first week of July 2024, with first author affiliated with Greater Maghreb countries. The rate of AI-generated texts was calculated using the AI detection tool: ZeroGPT®. Each article was analyzed in its entirety and each section separately (Abstract, Introduction, Methods, Results, and Discussion). Articles or sections were considered "suspects of AI generation" (sAI-g) if the rate was ≥25%. Results were presented as medians associated with their corresponding Inter Quartile Range (IQR).
Results: In all, 48 scientific medical articles were published by first authors from the Greater Maghreb countries. Articles were classified as "sAI-g" in 65% of cases, with a median rate of 36.2%[IQR=11.0%-49.4%]. AI-generated text was detected mainly in three sections: "Methods" (sAI-g=86%, median=59.3%[IQR=28.5%-71.7%]), "Abstract" (sAI-g=69%, median=52.2% [IQR=0.0%-90.2%]) and "Introduction" (sAI-g=58%, median=43.2%,[IQR=0.0%-79.4%]), while the "Discussion" section had the lowest median rate (sAI-g=30%, median=10.4%,[IQR=0.0%-27.9%]). Conclusion: Scientific medical articles from the Greater Maghreb countries used Generative AI extensively. This requires, on one hand, advancing medical education and mandating dissertations in English to build capacities for non-native English-speaking researchers, and on the other hand, providing training on the responsible use of AI ..(abstract truncated at 250 words).
{"title":"Use of Generative AI in Medical Writing by Non-Native English Researchers.","authors":"Hamza Gazzeh, Amal Ghribi, Youssef Zanina, Mohamed Khelil, Ahmed Ben Abdelaziz","doi":"10.62438/tunismed.v103i4.5548","DOIUrl":"https://doi.org/10.62438/tunismed.v103i4.5548","url":null,"abstract":"<p><strong>Introduction: </strong>Generative Artificial Intelligence (AI) has increasingly found its way into scientific medical writing, which can be particularly inappropriate in non-native English-speaking countries. This study aimed to determine the occurrence of AI-generated texts in medical publications originating from the Greater Maghreb countries (Libya, Tunisia, Algeria, Morocco, and Mauritania).</p><p><strong>Methods: </strong>This was a cross-sectional study that gathered all medical publications indexed on MEDLINE, published in the first week of July 2024, with first author affiliated with Greater Maghreb countries. The rate of AI-generated texts was calculated using the AI detection tool: ZeroGPT®. Each article was analyzed in its entirety and each section separately (Abstract, Introduction, Methods, Results, and Discussion). Articles or sections were considered \"suspects of AI generation\" (sAI-g) if the rate was ≥25%. Results were presented as medians associated with their corresponding Inter Quartile Range (IQR).</p><p><strong>Results: </strong>In all, 48 scientific medical articles were published by first authors from the Greater Maghreb countries. Articles were classified as \"sAI-g\" in 65% of cases, with a median rate of 36.2%[IQR=11.0%-49.4%]. AI-generated text was detected mainly in three sections: \"Methods\" (sAI-g=86%, median=59.3%[IQR=28.5%-71.7%]), \"Abstract\" (sAI-g=69%, median=52.2% [IQR=0.0%-90.2%]) and \"Introduction\" (sAI-g=58%, median=43.2%,[IQR=0.0%-79.4%]), while the \"Discussion\" section had the lowest median rate (sAI-g=30%, median=10.4%,[IQR=0.0%-27.9%]). Conclusion: Scientific medical articles from the Greater Maghreb countries used Generative AI extensively. This requires, on one hand, advancing medical education and mandating dissertations in English to build capacities for non-native English-speaking researchers, and on the other hand, providing training on the responsible use of AI ..(abstract truncated at 250 words).</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 4","pages":"397-402"},"PeriodicalIF":0.0,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146229295","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}
Introduction: Benign osteopetrosis is a rare metabolic bone disorder characterized by a generalized and symmetrical increase in bone density. While the radiographic features of osteopetrosis are well-known, scintigraphic aspects, particularly in hybrid imaging single-photon emission computed tomography coupled with computed tomography (SPECT/CT), have been rarely described in the literature.
Observation: A 16-year-old adolescent boy presented with chronic diffuse osteoarticular pain. Radiological exploration revealed osteosclerosis in the femoral heads, distal ends of the femurs, and upper ends of the tibiae, suggesting the diagnosis of osteopetrosis. Planar bone scintigraphy supplemented by SPECT/CT confirmed the diagnosis, mapped the various bone locations, and ruled out fractures.
Conclusion: Although rare, benign osteopetrosis should be recognized because it causes bone integrity impairment, leading to various bone complications, including spontaneous fractures. SPECT/CT plays an important role in assessing the extent of bone lesions and identifying complications. As highlighted, this case underscores the utility of combining functional and anatomical imaging modalities in one examination, which decreases the time to diagnosis and offers a comprehensive assessment of benign osteopetrosis.
{"title":"Contribution of hybrid imaging in benign osteopetrosis: A case report and literature review.","authors":"Sihem Mensi, Hajer Boudrigua, Rihem Belayouni, Kaouther Chatti","doi":"10.62438/tunismed.v103i4.5189","DOIUrl":"https://doi.org/10.62438/tunismed.v103i4.5189","url":null,"abstract":"<p><strong>Introduction: </strong>Benign osteopetrosis is a rare metabolic bone disorder characterized by a generalized and symmetrical increase in bone density. While the radiographic features of osteopetrosis are well-known, scintigraphic aspects, particularly in hybrid imaging single-photon emission computed tomography coupled with computed tomography (SPECT/CT), have been rarely described in the literature.</p><p><strong>Observation: </strong>A 16-year-old adolescent boy presented with chronic diffuse osteoarticular pain. Radiological exploration revealed osteosclerosis in the femoral heads, distal ends of the femurs, and upper ends of the tibiae, suggesting the diagnosis of osteopetrosis. Planar bone scintigraphy supplemented by SPECT/CT confirmed the diagnosis, mapped the various bone locations, and ruled out fractures.</p><p><strong>Conclusion: </strong>Although rare, benign osteopetrosis should be recognized because it causes bone integrity impairment, leading to various bone complications, including spontaneous fractures. SPECT/CT plays an important role in assessing the extent of bone lesions and identifying complications. As highlighted, this case underscores the utility of combining functional and anatomical imaging modalities in one examination, which decreases the time to diagnosis and offers a comprehensive assessment of benign osteopetrosis.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 4","pages":"527-530"},"PeriodicalIF":0.0,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146229310","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}
Introduction: Several nations have seen an increase in COVID-19 cases in 2020, exhibiting a wave pattern. Different COVID-19 variants caused these waves. In this perspective, the aim of the study was to compare epidemiological, clinical and evolutive profile of COVID-19 infection during two waves of COVID-19.
Methods: Data collection was carried out using a questionnaire self-administered in French and Arabic developed with Google Forms and shared online via social media with weekly reminders. Duration of one month was enough to get the necessary number of participants calculated. The study included all Tunisians who were infected with COVID-19 at least once and agreed to participate in the study. Results: In total, 1328 COVID-19 patients were included. Eight hundred eighty-three patients were infected during the Alpha wave (66.5%) and 445 were infected during the Delta wave (33.5%). The median age was 37 years (interquartile range (IQR): 30-41 years). Clinically, during delta wave, these symptoms were more frequent; fever (57.8% versus 51.9%, p= 0.042), loss of smell (75.1% versus 65.1%, p On the other hand, aches were more frequent during Alpha wave (65.2% versus 56.2%, p = 0.001) and the impact of health professionals was greater (27.6% versus 15.7%, p≤10-3).
Conclusion: The Alpha variant had more pronounced clinical symptoms than the Delta variant. This can be explained by the high vaccination coverage during the pandemic by the Delta variant.
{"title":"A comparison between alpha and delta waves of COVID-19, in Tunisia.","authors":"Bouthaina Trabelsi, Souhir Chelly, Syrine Chelly, Houda Ben Soltane, Mohamed Mahjoub","doi":"10.62438/tunismed.v103i4.5199","DOIUrl":"https://doi.org/10.62438/tunismed.v103i4.5199","url":null,"abstract":"<p><strong>Introduction: </strong>Several nations have seen an increase in COVID-19 cases in 2020, exhibiting a wave pattern. Different COVID-19 variants caused these waves. In this perspective, the aim of the study was to compare epidemiological, clinical and evolutive profile of COVID-19 infection during two waves of COVID-19.</p><p><strong>Methods: </strong>Data collection was carried out using a questionnaire self-administered in French and Arabic developed with Google Forms and shared online via social media with weekly reminders. Duration of one month was enough to get the necessary number of participants calculated. The study included all Tunisians who were infected with COVID-19 at least once and agreed to participate in the study. Results: In total, 1328 COVID-19 patients were included. Eight hundred eighty-three patients were infected during the Alpha wave (66.5%) and 445 were infected during the Delta wave (33.5%). The median age was 37 years (interquartile range (IQR): 30-41 years). Clinically, during delta wave, these symptoms were more frequent; fever (57.8% versus 51.9%, p= 0.042), loss of smell (75.1% versus 65.1%, p On the other hand, aches were more frequent during Alpha wave (65.2% versus 56.2%, p = 0.001) and the impact of health professionals was greater (27.6% versus 15.7%, p≤10-3).</p><p><strong>Conclusion: </strong>The Alpha variant had more pronounced clinical symptoms than the Delta variant. This can be explained by the high vaccination coverage during the pandemic by the Delta variant.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 4","pages":"463-468"},"PeriodicalIF":0.0,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146229117","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}
Objective: To test the validity and reliability of The European Organization for Research and Treatment of Cancer (EORTC) core (QLQ-C30) in its Tunisian dialectal version for lung cancer patients.
Methods: A total of 300 patients under a chemotherapy regimen for lung cancer were enrolled in this cross-sectional study. Participants had to answer EORTC QLQ-C30 auto-questionnaire in the Tunisian version, then in the Arabic version 15 days later. Statistical analyses were performed by SPSS 22.
Results: The Tunisian version was found reliable and valid for Tunisian cancer patients. Seven of the 8 multi-item scales of QLQ-C30 had high reliability (Cronbach's α >0.7). In our analysis, the most determinative subscales of QLQ-C30 on global health were physical functioning, cognitive functioning, fatigue, and dyspnea. Correlation with the Arabic version was nearly a perfect mismatching; all sub-scale mean scores were statistically correlated. The inter-class correlations confirmed the external convergent validity. Discriminant validity was supported since the correlation value of a symptom scale score with other similar scales was higher than any functional scale, and inversely.
Conclusions: The Tunisian version of EORTC QLQ-C30, recently written is a reliable and valid tool to assess the quality of life of Tunisian lung cancer patients.
{"title":"Validation of EORTC QLQ-C30 questionnaire in its Tunisian version.","authors":"Soraya Fenniche, Nidhal Belloumi, Chaima Habouria, Imene Bachouch, Fatma Chermiti","doi":"10.62438/tunismed.v103i4.5260","DOIUrl":"https://doi.org/10.62438/tunismed.v103i4.5260","url":null,"abstract":"<p><strong>Objective: </strong>To test the validity and reliability of The European Organization for Research and Treatment of Cancer (EORTC) core (QLQ-C30) in its Tunisian dialectal version for lung cancer patients.</p><p><strong>Methods: </strong>A total of 300 patients under a chemotherapy regimen for lung cancer were enrolled in this cross-sectional study. Participants had to answer EORTC QLQ-C30 auto-questionnaire in the Tunisian version, then in the Arabic version 15 days later. Statistical analyses were performed by SPSS 22.</p><p><strong>Results: </strong>The Tunisian version was found reliable and valid for Tunisian cancer patients. Seven of the 8 multi-item scales of QLQ-C30 had high reliability (Cronbach's α >0.7). In our analysis, the most determinative subscales of QLQ-C30 on global health were physical functioning, cognitive functioning, fatigue, and dyspnea. Correlation with the Arabic version was nearly a perfect mismatching; all sub-scale mean scores were statistically correlated. The inter-class correlations confirmed the external convergent validity. Discriminant validity was supported since the correlation value of a symptom scale score with other similar scales was higher than any functional scale, and inversely.</p><p><strong>Conclusions: </strong>The Tunisian version of EORTC QLQ-C30, recently written is a reliable and valid tool to assess the quality of life of Tunisian lung cancer patients.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 4","pages":"511-518"},"PeriodicalIF":0.0,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146229290","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}
Aim: To determine pathogenic variants linked to Familial Hypercholesterolemia (FH) among a southern Tunisian family using Whole Exome Sequencing (WES).
Methods: Genomic DNA was extracted from whole blood among the index case as well as other affected and unaffected family members. Then, WES was performed only in the proband. The pathogenicity of genetic variation was assessed in a set of 13 genes reported as associated with FH using combined filtering and bioinformatics prediction tools. Finally, sanger sequencing was done to verify the probands' likely pathogenic predicted mutations and to check for familial segregation among all family subjects.
Results: Our results showed the presence of a pathogenic splice site mutation (c.1186+1G>A) in the LDLR gene among the proband and other affected family members. The following up of the family, revealed the effectiveness of the combination of rosuvastatin and ezetimibe with healthy diet to meet the LDL-c treatment goal with approximately 50% of decrease for the proband.
Conclusion: This study is the first of its kind using WES for FH screening and diagnosis in Tunisia. Here, we point up the importance of molecular analysis for a better health care management of FH patients and their families.
{"title":"Screening for Familial Hypercholesterolemia in Tunisia using Whole Exome Sequencing: Importance in diagnosis and healthcare management.","authors":"Faten Mahjoub, Nadia Kheriji, Nadia Ben Amor, Ramla Mizouri, Rym Kefi, Henda Jamoussi","doi":"10.62438/tunismed.v103i4.5359","DOIUrl":"https://doi.org/10.62438/tunismed.v103i4.5359","url":null,"abstract":"<p><strong>Aim: </strong>To determine pathogenic variants linked to Familial Hypercholesterolemia (FH) among a southern Tunisian family using Whole Exome Sequencing (WES).</p><p><strong>Methods: </strong>Genomic DNA was extracted from whole blood among the index case as well as other affected and unaffected family members. Then, WES was performed only in the proband. The pathogenicity of genetic variation was assessed in a set of 13 genes reported as associated with FH using combined filtering and bioinformatics prediction tools. Finally, sanger sequencing was done to verify the probands' likely pathogenic predicted mutations and to check for familial segregation among all family subjects.</p><p><strong>Results: </strong>Our results showed the presence of a pathogenic splice site mutation (c.1186+1G>A) in the LDLR gene among the proband and other affected family members. The following up of the family, revealed the effectiveness of the combination of rosuvastatin and ezetimibe with healthy diet to meet the LDL-c treatment goal with approximately 50% of decrease for the proband.</p><p><strong>Conclusion: </strong>This study is the first of its kind using WES for FH screening and diagnosis in Tunisia. Here, we point up the importance of molecular analysis for a better health care management of FH patients and their families.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 4","pages":"436-443"},"PeriodicalIF":0.0,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146229265","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}
Pub Date : 2025-04-05DOI: 10.62438/tunismed.v103i4.5557
Haifa Hachfi, Mouna Braham, Najla El Amri, Kawther Ben Abdelghani, Soumaya Boussaid, Rim Dhahri, Saoussen Miladi, Hela Fourati, Mahbouba Jeguirim, Kaouther Maatallah, Rawdha Tekaya, Rabie Razgallah, Leila Abdelmoula, Sofiene Baklouti, Naceur Bargaoui, Elyes Bouajina, Mohamed ElEuch, Imen Gharsallah, Wafa Hamdi, Samir Kochbati, Ahmed Laatar, Mohamed Younes
Introduction: The advent of biological therapies has greatly improved the treatment and management of rheumatoid arthritis (RA) and spondyloarthritis (SpA). However, evaluating the efficacy and long-term safety of these therapies is a necessity. So far in Tunisia, no large prospective multicentric trial reflecting national data has been published. Thus, the objective of the study was to collect data on sociodemographic characteristics of Tunisian patients with RA and SpA receiving biologics and to evaluate the clinical efficacy and safety of this therapy.
Methods: BINAR is a prospective, observational registry with a 2-year follow-up period. A total of 600 consecutive patients treated with biologic for RA or SpA form different regions of Tunisia, are included until the end of the recruitment period, set at one year. Patients are officially included in BINAR only if they are aged 18 years and older. All patients monitored for RA according to ACR-EULAR criteria or SpA according to ASAS Criteria starting biological treatment at the time of inclusion or within two years before the inclusion date are eligible to be enrolled. All patients provided written informed consent. The primary end point is the safety and tolerability assessment of biologics and the incidence of adverse events over 2 years. The secondary end points are the assessment of RA and SpA activity at baseline and at two years of follow-up.
Results: One hundred rheumatologists are involved in this study. Ten departments participated in the registry. Demographic profile, activity and disability of RA and SpA will be evaluated. Efficacy and safety of biologic and the incidence of adverse events will be determined at the end of the 2-year follow-up period for every patient.
Conclusion: BINAR is an essential source of clinical efficacy and safety information for biologic agents. It will be a large register for Tunisian patients. This study would add and provide valuable data for the long-term outcome of patients with RA and SpA treated with biologics.
{"title":"[Biologic National Registry (BINAR) protocol: Design and Rationale of the Tunisian clinical multicentric study of efficacy and safety of biologics in Rheumatoid arthritis and Spondyloarthritis].","authors":"Haifa Hachfi, Mouna Braham, Najla El Amri, Kawther Ben Abdelghani, Soumaya Boussaid, Rim Dhahri, Saoussen Miladi, Hela Fourati, Mahbouba Jeguirim, Kaouther Maatallah, Rawdha Tekaya, Rabie Razgallah, Leila Abdelmoula, Sofiene Baklouti, Naceur Bargaoui, Elyes Bouajina, Mohamed ElEuch, Imen Gharsallah, Wafa Hamdi, Samir Kochbati, Ahmed Laatar, Mohamed Younes","doi":"10.62438/tunismed.v103i4.5557","DOIUrl":"https://doi.org/10.62438/tunismed.v103i4.5557","url":null,"abstract":"<p><strong>Introduction: </strong>The advent of biological therapies has greatly improved the treatment and management of rheumatoid arthritis (RA) and spondyloarthritis (SpA). However, evaluating the efficacy and long-term safety of these therapies is a necessity. So far in Tunisia, no large prospective multicentric trial reflecting national data has been published. Thus, the objective of the study was to collect data on sociodemographic characteristics of Tunisian patients with RA and SpA receiving biologics and to evaluate the clinical efficacy and safety of this therapy.</p><p><strong>Methods: </strong>BINAR is a prospective, observational registry with a 2-year follow-up period. A total of 600 consecutive patients treated with biologic for RA or SpA form different regions of Tunisia, are included until the end of the recruitment period, set at one year. Patients are officially included in BINAR only if they are aged 18 years and older. All patients monitored for RA according to ACR-EULAR criteria or SpA according to ASAS Criteria starting biological treatment at the time of inclusion or within two years before the inclusion date are eligible to be enrolled. All patients provided written informed consent. The primary end point is the safety and tolerability assessment of biologics and the incidence of adverse events over 2 years. The secondary end points are the assessment of RA and SpA activity at baseline and at two years of follow-up.</p><p><strong>Results: </strong>One hundred rheumatologists are involved in this study. Ten departments participated in the registry. Demographic profile, activity and disability of RA and SpA will be evaluated. Efficacy and safety of biologic and the incidence of adverse events will be determined at the end of the 2-year follow-up period for every patient.</p><p><strong>Conclusion: </strong>BINAR is an essential source of clinical efficacy and safety information for biologic agents. It will be a large register for Tunisian patients. This study would add and provide valuable data for the long-term outcome of patients with RA and SpA treated with biologics.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 4","pages":"408-412"},"PeriodicalIF":0.0,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146229081","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}
Pub Date : 2025-04-05DOI: 10.62438/tunismed.v103i4.5069
Rim Aidli, Marwa Bahri, Noureddine Louati, Hela Sahbani, Emna Azza, Yosr Ben Abdennebi, Lamia Aissaoui
Introduction: Posterior Reversible Encephalopathy Syndrome (PRES) is one of the most common neurological complications in pediatric onco-hematology. Hematologic malignancies and cytotoxic chemotherapy are involved in its pathogenesis. It's a clinical and radiological entity: the diagnosis of PRES is based on both clinical symptoms and neuroimaging data.
Observation: Here we reported a series of four cases of children/ adolescents treated by cytotoxic chemotherapy for hematologic malignancies who developed neurologic disorders and their magnetic resonance imaging findings were in favor of PRES.
Conclusion: In onco-hematology, children/ adolescents who present with new seizures, visual deficits, or other neurologic signs, PRES should be considered as a part of the differential diagnosis as a good outcome relies on rapid management of this complication.
{"title":"[Posterior Reversible Encephalopathy Syndrome in children/ adolescents with hematologic malignancies: Case reports].","authors":"Rim Aidli, Marwa Bahri, Noureddine Louati, Hela Sahbani, Emna Azza, Yosr Ben Abdennebi, Lamia Aissaoui","doi":"10.62438/tunismed.v103i4.5069","DOIUrl":"https://doi.org/10.62438/tunismed.v103i4.5069","url":null,"abstract":"<p><strong>Introduction: </strong>Posterior Reversible Encephalopathy Syndrome (PRES) is one of the most common neurological complications in pediatric onco-hematology. Hematologic malignancies and cytotoxic chemotherapy are involved in its pathogenesis. It's a clinical and radiological entity: the diagnosis of PRES is based on both clinical symptoms and neuroimaging data.</p><p><strong>Observation: </strong>Here we reported a series of four cases of children/ adolescents treated by cytotoxic chemotherapy for hematologic malignancies who developed neurologic disorders and their magnetic resonance imaging findings were in favor of PRES.</p><p><strong>Conclusion: </strong>In onco-hematology, children/ adolescents who present with new seizures, visual deficits, or other neurologic signs, PRES should be considered as a part of the differential diagnosis as a good outcome relies on rapid management of this complication.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 4","pages":"523-526"},"PeriodicalIF":0.0,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146229203","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}
Pub Date : 2025-04-05DOI: 10.62438/tunismed.v103i4.5289
Olfa Berriche, Hana Ben Jemaa, Rym Ben Othman, Ramla Mizouri, Amel Gamoudi, Henda Jamoussi
Introduction: Micronutrient deficiencies are common in type 2 diabetics (T2D), promoting the occurrence of anxiety-depressive disorders.
Aim: The objectives of this study were to evaluate the micronutrient status of patients with type 2 diabetes (T2D), screen them for anxiety-depressive disorders, and investigate associations between these disorders and micronutrient intake.
Methods: This was a descriptive cross-sectional study involving 115 type 2 diabetics. They underwent a dietary survey and completed the Hospital Anxiety and Depression Scale (HAD) and Dopamine/Norepinephrine/Serotonin (DNS) questionnaires assessing anxiety-depressive disorders.
Results: Deficiencies in the intake of vitamins (A, E, C, B) and minerals (magnesium, copper, iron, zinc) were noted. Negative and significant associations were found between depression scores and the intake of vitamin B1 (p=0.01) and vitamin B6 (p=0.024). Similarly, negative and significant associations were found between anxiety scores and the intake of vitamin B6 (p=0.049), vitamin B9 (p=0.019), and vitamin B12 (p=0.01). Referring to the DNS score, we found negative associations between the dopamine score and the intake of vitamin B9 (p=0.002), magnesium (p=0.003), and copper (p=0.007) ; between the norepinephrine score and the intake of vitamin C (p=0.046), vitamin B6 (p<0.001), magnesium (p=0.024), and zinc (p=0.009); and between the serotonin score and the intake of vitamin B12 (p=0.001), magnesium (p=0.027), and zinc (p=0.047). Conclusion : micronutrient deficiencies can exacerbate pre-existing anxiety and depressive disorders in type 2 diabetics. Systematic nutritional education is recommended, emphasizing a balanced and varied diet rich in vitamins and minerals.
{"title":"Impact of micronutrients on anxiety-depressive disorders in type 2 diabetics.","authors":"Olfa Berriche, Hana Ben Jemaa, Rym Ben Othman, Ramla Mizouri, Amel Gamoudi, Henda Jamoussi","doi":"10.62438/tunismed.v103i4.5289","DOIUrl":"https://doi.org/10.62438/tunismed.v103i4.5289","url":null,"abstract":"<p><strong>Introduction: </strong>Micronutrient deficiencies are common in type 2 diabetics (T2D), promoting the occurrence of anxiety-depressive disorders.</p><p><strong>Aim: </strong>The objectives of this study were to evaluate the micronutrient status of patients with type 2 diabetes (T2D), screen them for anxiety-depressive disorders, and investigate associations between these disorders and micronutrient intake.</p><p><strong>Methods: </strong>This was a descriptive cross-sectional study involving 115 type 2 diabetics. They underwent a dietary survey and completed the Hospital Anxiety and Depression Scale (HAD) and Dopamine/Norepinephrine/Serotonin (DNS) questionnaires assessing anxiety-depressive disorders.</p><p><strong>Results: </strong>Deficiencies in the intake of vitamins (A, E, C, B) and minerals (magnesium, copper, iron, zinc) were noted. Negative and significant associations were found between depression scores and the intake of vitamin B1 (p=0.01) and vitamin B6 (p=0.024). Similarly, negative and significant associations were found between anxiety scores and the intake of vitamin B6 (p=0.049), vitamin B9 (p=0.019), and vitamin B12 (p=0.01). Referring to the DNS score, we found negative associations between the dopamine score and the intake of vitamin B9 (p=0.002), magnesium (p=0.003), and copper (p=0.007) ; between the norepinephrine score and the intake of vitamin C (p=0.046), vitamin B6 (p<0.001), magnesium (p=0.024), and zinc (p=0.009); and between the serotonin score and the intake of vitamin B12 (p=0.001), magnesium (p=0.027), and zinc (p=0.047). Conclusion : micronutrient deficiencies can exacerbate pre-existing anxiety and depressive disorders in type 2 diabetics. Systematic nutritional education is recommended, emphasizing a balanced and varied diet rich in vitamins and minerals.</p>","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":"103 4","pages":"478-485"},"PeriodicalIF":0.0,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146229217","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}