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排序方式: 共有537条查询结果,搜索用时 15 毫秒
1.
Brahem-Jmili N Salem N Abdelkefi S Champ BG Bekri S Sboui H Mahjoub T Yacoub S Kortas M 《Annales de biologie clinique》2004,62(3):349-352
Hereditary sideroblastic anemia is a very rare disease recessive and X-linked that affect heme biosynthesis by deficit or decreased of delta aminolevulinic acid synthase (ALAS) activity. We report a case of a six-month-old boy, admitted in the hospital for anemic syndrome. The hemogram showed anemia (hemoglobin: 4.5 g/dL), frankly hypochronic microcytic and a regenerated (mean corpuscular hemoglobin concentration: 26 g/dL, mean cell volume: 53 fl, reticulocytes: 10 x 10(9)/L) with red cells morphologic disorders in smears (anisopoikylocytosis) without attack of the other lineages; white blood cells: 11 x 10(9)/L (neutrophils: 64% and lymphocytes: 35%); platelets: 350 x 10(9)/L. Examination of bone marrow showed an important erythroid hyperplasia (about 69%) with dyserythropoiesis. Perls stain revealed intense siderosis with 90% of ringed sideroblasts and a large number of siderocytes. Exploration of ALAS2 and ABC7 genes on the DNA of the infant was not found abnormalities. Treatment with pyridoxine corrects moderately the anemia. By the way, we proposed to remind that iron deficiency, inflammatory syndrome and thalassemia are the common microcytic anemia. However, it's mandatory to explore other causes if diagnosis is not solved. 相似文献
2.
Amel Rezgui Maissa Thabet Sahar Makki Jihed Anoun Imen Ben Hassine Monia Karmeni Fatma Ben Fredj Anis Mzabi Chedia Laouani 《Reumatologia》2021,59(2):111
Coexistence of spondyloarthritis (SpA) and Takayasu’s arteritis is not a common finding, but such cases have been discussed, particularly in the context of choice of therapy. Inhibition of inflammation by tumor necrosis factor inhibitors (TNFi) is a key aspect of the treatment of SpA and also positive effects of such treatment in concomitant large vessel vasculitis have been reported. However, TNFi is also associated with the possibility of initiating vasculitis.The present article based on a case study and the available literature is an attempt to discuss coexistence of these two diseases and the impact of treatment with biological drugs from the anti-TNF group in the course of SpA with Takayasu’s arteritis. 相似文献
3.
Safa Chabouh Sondes Hammami Imen Harbaoui Zied Jemai Dorra Jarraya Amira Jamoussi 《La Tunisie médicale》2022,100(6):462
Introduction: The COVID-19 pandemic is causing management difficulties in the Tunisian healthcare system inventory management and the supply of Personal Protective Equipment (PPE). Aim : Calculate the number of PPE needed for MAMI Hospital Ariana (dedicated hospital to COVID patients) to avoid stock-outs. Methods: This study proposed a calculation method of the PPE needs for the intensive care and pneumology departments. We developed a mathematical formulation of the number of PPE needed according to the number of visits per medical and other teams, their types, the number of patients, and the validity of each type of PPE. Results: Considering as input data: the number of visits for the different intervening teams (medical, paramedical, worker or other), the capacity of the different services (number of beds), the average length of stay of patients, the validity duration of an equipment and urgent visits, the developed model generates the required number of PPE (especially surgical masks, FFP2 masks, disposables gowns and coveralls). This allows to calculate the number of personal protective equipment (PPE) needed by the Mami hospital’s pharmacy in this period of COVID-19 crisis. Conclusion: Our configurable application allowed us to calculate PPE requirements for the intensive care and pneumology departments and estimate their use duration. 相似文献
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Anne-Claire Gunantin Imen Jebeniani Julia Leschik Erwan Watrin Gisle Bonne Nicolas Vignier Michel Pucat 《The Journal of clinical investigation》2021,131(1)
LMNA mutations in patients are responsible for a dilated cardiomyopathy. Molecular mechanisms underlying the origin and development of the pathology are unknown. Herein, using mouse pluripotent embryonic stem cells (ESCs) and a mouse model both harboring the p.H222P Lmna mutation, we found early defects in cardiac differentiation of mutated ESCs and dilatation of mutated embryonic hearts at E13.5, pointing to a developmental origin of the disease. Using mouse ESCs, we demonstrated that cardiac differentiation of LmnaH222P/+ was impaired at the mesodermal stage. Expression of Mesp1, a mesodermal cardiogenic gene involved in epithelial-to-mesenchymal transition of epiblast cells, as well as Snai1 and Twist expression, was decreased in LmnaH222P/+ cells compared with WT cells in the course of differentiation. In turn, cardiomyocyte differentiation was impaired. ChIP assay of H3K4me1 in differentiating cells revealed a specific decrease of this histone mark on regulatory regions of Mesp1 and Twist in LmnaH222P/+ cells. Downregulation or inhibition of LSD1 that specifically demethylated H3K4me1 rescued the epigenetic landscape of mesodermal LmnaH222P/+ cells and in turn contraction of cardiomyocytes. Inhibition of LSD1 in pregnant mice or neonatal mice prevented cardiomyopathy in E13.5 LmnaH222P/H222P offspring and adults, respectively. Thus, LSD1 appeared to be a therapeutic target to prevent or cure dilated cardiomyopathy associated with a laminopathy. 相似文献
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M. Ouchari S. Jemni Yacoub B. Houissa S. Abdelkefi T. Chakroun M. Bouslama I. Jerray S. Belhedi S. Hmida 《Transfusion Clinique et Biologique》2013,20(1):35-39
Aim of the studyThe determination of the RhD phenotype is important in transfusion medicine. However, the complexity of the expression of the D antigen is the cause of the discrepancies observed between two serological determinations and the omission by serology of some variants that can be cause alloimmunization. Therefore, it is important to known in a population the RHD alleles responsible for partial D and weak D phenotype. The aim of the study was the screening of partial D with RHD/RHCE gene hybrid by PCR-multiplex.Materials and methodsOur study involved 308 blood donors from Tunisian Sahel (269 D positive and 39 D negative). We used the multiplex PCR assay to amplify specific exons of the RHD gene 3, 4, 5, 6, 7, 9 and 10. Further molecular investigations were carried to characterize the RHD variants that were detected by the multiplex.ResultsIn the 269 D positive samples, one case showed the absence of amplification of exons 4 and 5 of RHD gene. This variant was identified by PCR-SSP on weak D type 4. None of the RHD exons were amplified from DNA of 39 D negative samples in favor of a total deletion of the RHD gene.ConclusionWe have no found any partial D variant with RHD/RHCE gene hybrid. Results in D negative samples showed that RHD gene deletion is the most frequent mechanism of D negative phenotype in the Tunisian population. 相似文献
9.
Abdelkefi A Torjman L Ben Romdhane N Ladeb S El Omri H Ben Othman T Elloumi M Bellaj H Lakhal A Jeddi R Aissaouï L Saad A Hsaïri M Boukef K Dellagi K Ben Abdeladhim A 《Bone marrow transplantation》2005,36(3):193-198
Thalidomide-dexamethasone therapy was given in patients (<61 years) with previously untreated symptomatic multiple myeloma. The aim of this study was to assess the efficacy and toxicity of this combination as first-line therapy, and to determine its effect on stem cell collection and engraftment. During first-line therapy, thalidomide and dexamethasone were administered for 75 days (200 mg/day) and 3 months, respectively. The monthly dose of dexamethasone was 20 mg/m2/day for 4 days, with cycles repeated on days 9 to 12 and 17 to 20 on the first and the third month of therapy. After first-line therapy, a collection of peripheral blood stem cells (PBSC) was performed. Between May 2003 and September 2004, 60 patients were included. On an intent-to-treat basis, the overall response (> or =partial response) rate was 74%, including 24% of patients who obtained a complete remission. Grade 3-4 toxicities consisted of infections (12%), deep-vein thrombosis (3%), constipation (5%), and neuropathy (5%). A total of 58 patients (96%) proceeded to PBSC mobilisation and yielded a median number of 8 x 10(6) CD34+ cells/kg. First-line thalidomide-dexamethasone therapy is effective and relatively well tolerated in young patients with symptomatic multiple myeloma. This combination does not affect PBSC mobilisation. 相似文献
10.
Selma Charfeddine Wiem Feki Imen Maaloul Rania Hammami Emna Daoud 《Journal of the Saudi Heart Association》2020,32(4):454
Intramyocardial dissecting hematoma (IDH) is a rare complication of myocardial infarction (MI). It can affect the left ventricular free wall, the right ventricle, or the interventricular septum. We report a case of a 58-year-old man with an IDH following an acute anterior wall myocardial infarction detected by echocardiography and confirmed by Cardiac magnetic resonance (CMR). 相似文献