Tunisie Medicale最新文献_第3页

Atypical Multifocal Granular Cell Tumor with FLT3 Y842C Somatic Mutation: A case report and a review of the literature. 伴有FLT3 Y842C体细胞突变的非典型多灶性颗粒细胞瘤：病例报告和文献综述。

Tunisie Medicale Pub Date : 2024-10-05 DOI: 10.62438/tunismed.v102i10.5172

Alexandra Zara Rozalen, Ruth Garcia, Samir Husami, Gustavo Marino, Victor E Nava

{"title":"Atypical Multifocal Granular Cell Tumor with FLT3 Y842C Somatic Mutation: A case report and a review of the literature.","authors":"Alexandra Zara Rozalen, Ruth Garcia, Samir Husami, Gustavo Marino, Victor E Nava","doi":"10.62438/tunismed.v102i10.5172","DOIUrl":"10.62438/tunismed.v102i10.5172","url":null,"abstract":"Introduction: Granular cell tumors (GCT) are predominantly benign neoplasms composed by cells with abundant eosinophilic granular cytoplasm. Although the majority of GCTs exhibit a benign clinical course, a minority display cytological atypia and may exhibit aggressive, cancer-like behavior. Definitive evidence of malignancy in GCTs is reliably established only through the presence of metastasis. Addi- tionally, a subset of GCTs demonstrates a high rate of recurrence, underscoring the need for better prog- nostic markers. Therefore, it is crucial to identify molecular markers associated with aggressive behavior in GCTs. Molecular analysis may be particularly beneficial in cases exhibiting cytological atypia to in- form clinical outcome prognostication and guide therapeutic strategies.Observation: In this case report, a 45-year-old female with multiple gastrointestinal GCTs is pre- sented. The patient did not have any genetic syndromes commonly associated with GCT, such as neu- rofibromatosis type 1, Noonan syndrome or LEOPARD syndrome. The tumors not only demonstrated nuclear atypia, but also harbored a unique FLT3 Y842C somatic alteration identified by next-genera- tion sequencing. The patient remains asymptomatic and under endoscopic surveillance two years after diagnosis and complete resection of the neoplasms.Conclusion: We presented an exceedingly rare case of multifocal atypical GCT in an adult without any previously known genetic syndrome. A tumoral FLT3 Y842C point mutation not previously reported in GCT was discovered. Although the precise significance of this finding is uncertain, FLT3 Y842C has been cataloged as likely pathogenic in ClinVar. This report underscores the potential predictive utility of next-generation sequencing in the characterization and management of rare neoplasms.","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509860","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}

引用次数: 0

Iatrogenic risk in elderly patients. 老年患者的先天性风险。

Tunisie Medicale Pub Date : 2024-10-05 DOI: 10.62438/tunismed.v102i10.4970

Zohra Chadli, Kmar Kasraoui, Ibtissem Hannachi, Amel Chaabane, Rim Klii, Haifa Ben Romdhane, Naceur A Boughattas, Nadia Ben Fredj, Karim Aouam

{"title":"Iatrogenic risk in elderly patients.","authors":"Zohra Chadli, Kmar Kasraoui, Ibtissem Hannachi, Amel Chaabane, Rim Klii, Haifa Ben Romdhane, Naceur A Boughattas, Nadia Ben Fredj, Karim Aouam","doi":"10.62438/tunismed.v102i10.4970","DOIUrl":"https://doi.org/10.62438/tunismed.v102i10.4970","url":null,"abstract":"Introduction-Aim: The iatrogenic risk in the elderly is a real public health problem due to its frequency and seriousness. Our study aimed to analyze the epidemiological, clinical and chronological aspects of adverse drug reactions occurring in elderly subjects and to identify the incriminated drugs.Methods: We carried out a retrospective study of all the observations of adverse drug reactions in elderly subjects, notified to the Clinical Pharmacology department of Monastir over a period of 17 years (2004 - 2020). Drug skin tests were performed according to ENDA recommendations and imputability was analyzed using the French method of Bégaud et al. The drugs have been grouped according to the ATC classification.Results: Among 545 events occurring in elderly subjects, drug responsibility was retained in 209 patients. They were 106 men and 103 women (gender-ratio=1.03). The average age of the patients was 72.3±6 years. Drug hypersensitivity reactions accounted for 75% of all adverse effects. The majority of these reactions were type IV (delayed). The incriminated drugs were: anti-infectives (47%), drugs for the musculoskeletal system (20%), drugs for the cardiovascular system (17%) and drugs for the central nervous system (5%).Conclusion: Through this study, we noted a predominance of delayed drug hypersensitivity reactions as well as an increased involvement of anti-infectives and allopurinol in the occurrence of adverse effects in the elderly population.","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509770","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}

引用次数: 0

Insights into the genetic theory of infectious diseases. 对传染病基因理论的见解。

Tunisie Medicale Pub Date : 2024-09-05 DOI: 10.62438/tunismed.v102i9.4872

Abderrahmane Moundir, Leila Jeddane, Ahmed Aziz Bousfiha

{"title":"Insights into the genetic theory of infectious diseases.","authors":"Abderrahmane Moundir, Leila Jeddane, Ahmed Aziz Bousfiha","doi":"10.62438/tunismed.v102i9.4872","DOIUrl":"10.62438/tunismed.v102i9.4872","url":null,"abstract":"Over the past century, classical approaches from microbiology and immunology have produced spectacular results in the control of infectious diseases. However, the recent SARS-COV-2 pandemic has highlighted our continued failure to control some infections. Other microorganisms still pose a threat to humanity such as HIV, Ebola, and influenza viruses. It seems that conventional approaches are not able to solve all the current problems caused by infectious diseases. Human genetics has shown that infections have a strong genetic determinism that can lead to a predisposition or resistance to infections. This explains much of the clinical variability observed in individuals infected with the same pathogen. The identification of the genetic etiology allows a better understanding of the pathogenesis of infectious diseases and, consequently, the consideration of appropriate preventive and therapeutic strategies. This review provides insights into the genetic theory and the concrete evidence to support it. We highlight the role of primary immunodeficiencies in the discovery of Mendelian and monogenic susceptibility to infections, then we show how genetic and phenotypic heterogeneity, redundancy, and resistance to infection manifest in the context of this genetic determinism. To effectively combat the constant threat of microbes, it is essential to integrate human genetics with microbiology to examine the interactions between pathogens and our immune system.","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11459253/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142297625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Enhancing Student Success: Implementing Mentoring Programs in Academic Settings: Focus on the Faculty of Medicine of Tunis. 提高学生成功率：在学术环境中实施指导计划：聚焦突尼斯医学院。

Tunisie Medicale Pub Date : 2024-09-05 DOI: 10.62438/tunismed.v102i9.5316

Nadia Ben Amor, Lilia Kraoua, Rahma Damak, Soumeya Halayem, Lilia Zakhama, Iheb Labbene, Mohamed Jouini

引用次数: 0

Hydatid cyst of the gluteal muscle: a case report and literature review. 臀肌水瘤囊肿：病例报告和文献综述。

Tunisie Medicale Pub Date : 2024-09-05 DOI: 10.62438/tunismed.v102i9.5130

Soukaina Adadi, Rabi Isaka Amidou, Zina Lebbar, Hayat Ben Saghroune, Hamza Lakdim, Abdelmajid Elmrini, Zineb Tlamçani

{"title":"Hydatid cyst of the gluteal muscle: a case report and literature review.","authors":"Soukaina Adadi, Rabi Isaka Amidou, Zina Lebbar, Hayat Ben Saghroune, Hamza Lakdim, Abdelmajid Elmrini, Zineb Tlamçani","doi":"10.62438/tunismed.v102i9.5130","DOIUrl":"10.62438/tunismed.v102i9.5130","url":null,"abstract":"Introduction: Echinococcosis is a relatively widespread anthropozoonosis in endemic regions, preferentially affecting the liver and lungs. Although rare, it can sometimes be localized in the muscles. The clinical symptoms are insidious and not very indicative, often leading to a delayed diagnosis. We reported a case of a hydatid cyst located in the gluteal muscle.Observation: This was a 52-year-old female patient admitted for the appearance of a swelling in the left buttock region, progressively increasing in size. The radiological exam, revealed a large simple cyst originating from the gluteal muscle with purely liquid content. A surgical excision was performed, and the parasitological examination of the hydatid fluid confirmed the diagnosis.Conclusion: Hydatid cysts in soft tissues are rare, slow-developing tumors with local extension. This diagnosis should be considered, especially in individuals from endemic countries. The treatment is primarily surgical, but the best way to combat hydatid disease, regardless of its location, remains prevention.","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11459243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142297624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evolution of treatment for unspecific back pain: From past to future. 非特异性背痛治疗的演变：从过去到未来

Tunisie Medicale Pub Date : 2024-09-05 DOI: 10.62438/tunismed.v102i9.5162

Daniela Herrera, Christian Hartard, Helmi Ben Saad, Leonardo Montanari Mota, Viviane Alves Dos Santos, Chetna Sinha, Rahma Jedidi, Diana Hartard, Sara Khaled, Stefan Hartard, Manfred Hartard

{"title":"Evolution of treatment for unspecific back pain: From past to future.","authors":"Daniela Herrera, Christian Hartard, Helmi Ben Saad, Leonardo Montanari Mota, Viviane Alves Dos Santos, Chetna Sinha, Rahma Jedidi, Diana Hartard, Sara Khaled, Stefan Hartard, Manfred Hartard","doi":"10.62438/tunismed.v102i9.5162","DOIUrl":"10.62438/tunismed.v102i9.5162","url":null,"abstract":"Unspecific back pain (UBP) has long puzzled medical professionals. Historically, back pain (BP) was often attributed to mystical causes, treated with incantations or herbal concoctions. The Middle Ages shifted towards empirical practices, though still intertwined with superstition, using methods like leeches and bloodletting. The Renaissance introduced systematic healthcare approaches, laying the foundation for modern medicine. The 20th century saw significant advancements with diagnostic imaging, pharmacotherapy, physical therapy, and surgical interventions, though UBP remained elusive. Recent decades have seen a paradigm shift towards multidisciplinary approaches, addressing BP's multifactorial nature through holistic methods considering biomechanical, psychosocial, and lifestyle factors. This shift integrates quantitative research with hermeneutic interpretation, emphasizing evidence-based guidelines. Non-pharmacological interventions such as exercise therapy, electrotherapy, cognitive behavioral therapy, and mindfulness-based stress reduction have gained prominence, empowering individuals in their recovery. Technological innovations like virtual reality and artificial intelligence offer personalized treatment plans, optimizing outcomes. The future of BP treatment holds promise with advancements in regenerative medicine, neuromodulation, telemedicine, and remote monitoring platforms, enhancing accessibility and continuity of care, especially in underserved communities. However, challenges such as the opioid epidemic and healthcare disparities remain, necessitating judicious prescribing practices and equitable resource distribution. The evolving treatment landscape for UBP reflects the dynamic interplay between scientific progress, clinical innovation, and societal needs, aiming to alleviate the burden of back pain and improve quality of life.","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11459256/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142297623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Unique Tongue Presentation Revealing a Bronchobiliary Fistula. 显示支气管胆管瘘的独特舌象

Tunisie Medicale Pub Date : 2024-09-05 DOI: 10.62438/tunismed.v102i9.5127

Adil Zegmout, Youssef Zemmez, Hanane Asri, Hicham Souhi, Hanane El Ouazzani, Ismail Abderrahmane Rhorfi

引用次数: 0

Agreement of cardiac index measurements between ultrasonic cardiac output monitor and transthoracic echocardiography in neonates. 新生儿超声心输出量监测仪和经胸超声心动图测量心脏指数的一致性。

Tunisie Medicale Pub Date : 2024-09-05 DOI: 10.62438/tunismed.v102i9.5095

Khaled Menif, Ahmed Ayari, Assaad Louati, Shatila Ibn Haj Hassine, Asma Bouziri, Aida Borgi

{"title":"Agreement of cardiac index measurements between ultrasonic cardiac output monitor and transthoracic echocardiography in neonates.","authors":"Khaled Menif, Ahmed Ayari, Assaad Louati, Shatila Ibn Haj Hassine, Asma Bouziri, Aida Borgi","doi":"10.62438/tunismed.v102i9.5095","DOIUrl":"10.62438/tunismed.v102i9.5095","url":null,"abstract":"Objectives: To evaluate the agreement of cardiac index (CI) calculated by Ultrasonic sonic cardiac output monitor (USCOM) and transthoracic thoracic echocardiography (TTE) in order to know if we can recommend USCOM in our pediatric intensive care unit (PICU).Design: Prospective observational evaluative study carried out over a period of 3 months Setting: PICU at children's hospital in Tunis Participants: All newborns without tracheostomy or a known congenital heart disease, admitted to the PICU during the study period were enrolled.Interventions: Paired and consecutive measurements of CI were obtained in all patients with both technologies. All measurements by TTE and USCOM were performed by two distinct operators. It is the average of three successive measures of the CI, in the same patient, with each technology, which was considered. Agreement of CI between the 2 techniques was assessed by Bland-Altman analysis and percentage error.Measurements and main results: Forty-two infants were analyzed with the mean (standard deviation) gestation 36 weeks ( 5 days), age 1 days (1.09) , and weight 2.9 kg (0.87). Respiratory failure was the main cause of admission 75%. At the time of the study, 33 (75.%) patients were ventilated artificially. Bias (mean difference) of the CI between the two methods was 1.2 l/min/m2 and precision (± 2 SD of differences) was 1.08 l/min/m2. The MPE of CI measurement for USCOM vs TTE was 54.9%.Conclusions: The USCOM showed a poor agreement to TTE measures of CI. The two methods cannot be considered interchangeable.","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11459236/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142297617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Distribution of CYP3A4 and CYP3A5 Polymorphisms and Genotype Combination Implicated in Tacrolimus Metabolism. 与他克莫司代谢有关的 CYP3A4 和 CYP3A5 多态性分布及基因型组合

Tunisie Medicale Pub Date : 2024-09-05 DOI: 10.62438/tunismed.v102i9.4969

Ibtissem Hannachi, Zohra Chadli, Emna Kerkeni, Amel Chaabane, Nadia Ben-Fredj, Naceur A Boughattas, Karim Aouam

{"title":"Distribution of CYP3A4 and CYP3A5 Polymorphisms and Genotype Combination Implicated in Tacrolimus Metabolism.","authors":"Ibtissem Hannachi, Zohra Chadli, Emna Kerkeni, Amel Chaabane, Nadia Ben-Fredj, Naceur A Boughattas, Karim Aouam","doi":"10.62438/tunismed.v102i9.4969","DOIUrl":"10.62438/tunismed.v102i9.4969","url":null,"abstract":"Introduction: Human cytochrome P450 (CYP), particularly CYP3A4 and CYP3A5 is mainly responsible for the metabolism of several drugs including tacrolimus. Significant interracial/interethnic variation in the expression and function of CYP3A5 and CYP3A4 is caused by Single Nucleotide Polymorphisms (SNPs) of genes encoding these proteins.Aim: The present study investigated the genetic polymorphisms CYP3A4*1B, CYP3A4*22, and CYP3A5*3 in the Tunisian population.Methods: We included in this study, Tunisian healthy subjects and renal transplant recipients receiving tacrolimus. CYP3A4 and CYP3A5 genotyping were performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). According to the genotypic combination of the three CYP polymorphisms, we have identified for the first time four metabolizers statuses: slow metabolizers (SM), intermediate metabolizers (IM), high metabolizers (HM), and extensive metabolizers (EM).Results: A total of 101 renal transplant patients and 102 healthy subjects were included. Our results showed that the predominant alleles in the Tunisian population are a wild type of CYP3A4*1B (0.87), likewise CYP3A4*22 (0.975) and CYP3A5*3 (0.82). The genotype frequencies of CYP3A4*1B, CYP3A4*22, and CYP3A5*3 were found to be 3.9%, 0.0%, and 69.5%, respectively. Also, we found a significant linkage disequilibrium between CYP3A4*1B and CYP3A5*3. We approved that the IM is the predominant phenotype in our population with 124 patients followed by and EM with 41 patients, HM in 29 patients and SM in 9 patients. These results showed that Tunisians are most similar to Caucasians.Conclusion: The genetic background of these enzymes CYP3A4*1B, CYP3A4*22, and CYP3A5*3 in this study are important in the prescription of personalized medicine.","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11450750/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142297621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Birth defects and epidemiological factors in Tunisia. 突尼斯的出生缺陷和流行病学因素。

Tunisie Medicale Pub Date : 2024-09-05 DOI: 10.62438/tunismed.v102i9.5090

Kaouther Nasri, Nadia Ben Jemaa, Belhassen Chorfi, Mariem Sahraoui, Aida Masmoudi, Soumeya Siala Gaigi

{"title":"Birth defects and epidemiological factors in Tunisia.","authors":"Kaouther Nasri, Nadia Ben Jemaa, Belhassen Chorfi, Mariem Sahraoui, Aida Masmoudi, Soumeya Siala Gaigi","doi":"10.62438/tunismed.v102i9.5090","DOIUrl":"10.62438/tunismed.v102i9.5090","url":null,"abstract":"Aim: To identify the birth defects listed in the embryo-fetopathology department of the maternity and neonatology center of Tunis (Tunisia), and to study the epidemiological factors.Methods: We carried out a retrospective study on 2489 malformed cases including fetuses, stillborns and deceased newborns among 5750 ones autopsied in the embryo-fetopathology department of the maternity and neonatology center of Tunis.Results: The sex ratio of autopsied cases was 1.06. 41% of them weighed less than 500 grams. The gestational age was between 22-28 weeks of amenorrhea in 41.3% of cases. Among the maternal characteristics, we noted an average maternal age of 30.1 years old (with extremes ranging from 16 to 51 years old), and a predominance of O blood group. Parental consanguinity and history of reproductive failure were found respectively in 37.4% and 32.5% of cases. Antenatal diagnosis was established in 62% of cases. It was positive in 59.5% of cases (all types of malformations combined). Among the 2489 malformed cases, 4568 birth defects were identified. Neurological anomalies were the most common (26.01%) followed by nephro-urological anomalies (13.16%) and cardiovascular anomalies (11.47%). During the study period, 164 cases of polymalformative syndromes were counted and 217 cases of chromosomal aberrations were classified.Conclusion: This study allowed us to assess the frequency of birth defects, categorize them based on their type and determine the different epidemiological factors during a long period of nine years, even though our nation does not have a national register of birth defects. In Tunisia, it is important to carry out a national multicenter study in order to set a national register representing the real statistics of these anomalies.","PeriodicalId":38818,"journal":{"name":"Tunisie Medicale","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11459242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142297619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0