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排序方式: 共有157条查询结果,搜索用时 15 毫秒
1.
Natacha Martin Anne Bergougnoux Nesrine Baatallah Benoit Chevalier Jessica Varilh David Baux Bruno Costes Pascale Fanen Caroline Raynal Isabelle Sermet-Gaudelus Emmanuelle Girodon Magali Taulan-Cadars Alexandre Hinzpeter 《Journal of cystic fibrosis》2021,20(3):464-472
BackgroundMinigenes and in silico prediction tools are commonly used to assess the impact on splicing of CFTR variants. Exon skipping is often neglected though it could impact the efficacy of targeted therapies. The aim of the study was to identify exon skipping associated with CFTR variants and to evaluate in silico predictions of seven freely available software.MethodsCFTR basal exon skipping was evaluated on endogenous mRNA extracted from non-CF nasal cells and on two CFTR minigene banks. In silico tools and minigene systems were used to evaluate the impact of CFTR exonic variants on exon skipping.ResultsData showed that out of 65 CFTR variants tested, 26 enhanced exon skipping and that in silico prediction efficacy was of 50%-66%. Some in silico tools presented predictions with a bias towards the occurrence of splicing events while others presented a bias towards the absence of splicing events (non-detection including true negatives and false negatives). Classification of exons depending on their basal exon skipping level increased prediction rates up to 80%.ConclusionThis study indicates that taking basal exon skipping into account could orientate the choice of the in silico tools to improve prediction rates. It also highlights the need to validate effects using in vitro assays or mRNA studies in patients. Eventually, it shows that variant-guided therapy should also target exon skipping associated with variants. 相似文献
2.
Rim Khemakhem Nesrine Kallel Rahma Jarraya Ilhem Yangui Samy Kammoun 《Clinical Case Reports》2022,10(8)
The syndrome of Leser‐Trélat (LT) is a rare paraneoplastic syndrome. However, patients presenting with the sign of Leser‐Trélat should be considered to harbor an occult malignancy or a progressive tumor disease until “proven” otherwise. Herein, we present two cases of non‐small‐cell lung carcinoma associated with LT syndrome. 相似文献
3.
Mejri Nesrine Rym Sellami Raoudha Doghri Hela Rifi Henda Raies Amel Mezlini 《中国肿瘤临床(英文版)》2012,(4):274-276
This paper reports a case of testicular synovial sarcoma with molecular genetic analysis.A 24-year-old male presented with painless scrotal mass.Ultrasonography showed a heterogeneous mass of 66 mm×34 mm in size involving the inguinal region.Histological examination of a surgical biopsy showed a gradeⅢmonophasic growth pattern of spindle cell proliferation.Immunohistochemical analyses indicated positive staining for pancytokeratine and epithelial membrane antigen.Cytogenetic analysis showed the presence of CYT-SSX1 mutation,and CT scan showed non-specific pleural micro-nodules with a size of 7.5 mm.The patient had an extended left orchidectomy but was lost to follow-up for 1 year.A local recurrent scrotal mass of 32 mm×25 mm,multiple inguinal lymph nodes,and increased pleural nodules,which were confirmed by histological examination,were treated with three cycles of adriamycine and ifosfamide chemotherapy,surgical resection,and radiotherapy with complete response.After 3 months,the patient developed local recurrence and pulmonary metastases that did not respond to second-line chemotherapy based on gemcitabine and paclitaxel.The patient had dyspnea at the time of this writing and chest pain,and is under third-line chemotherapy based on Deticene after 30 months of following up.This patient died on November 16,2012 after a resperatory failure and malignant plural effusion. Synovial sarcoma should be considered in the differential diagnosis of soft tissue tumor and it should be aggressively treated to improve prognosis.Although our patient has shown numerous factors of bad prognosis,he has had a relatively long survival time. 相似文献
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5.
Asmaa A. Shaaban Nadia A. Elkadery Hebatallah A. El-Shamy Rana A. El-Hilaly Nadia G. El-Hefnawy Nesrine A. Mohamed 《The Egyptian Rheumatologist》2019,41(1)
Aim of the work
To investigate the role of endothelial protein C receptor (EPCR) (membrane and soluble forms) as a biomarker of lupus nephritis (LN) in systemic lupus erythematosus (SLE) patients and to study its relation to the prognosis and response to treatment.Patients and methods
The study included 30 SLE patients and 30 matched healthy volunteers as well as 10 renal biopsies from surgical nephrectomy as a control for membranous (mEPCR) examination. SLE disease activity index-2000 and damage index were assessed. Serum sEPCR was measured. Renal expression of mEPCR was analyzed. All patients were reassessed after 3?months.Results
Patients were 26 females and 4 males with a mean age of 29.6?±?10.04?years and disease duration of 4.4?±?3.5?years. Their mean SLEDAI was 13.9?±?9.9 and damage index 1?±?1.5. Serum levels of sEPCR were significantly higher in patients with LN (19.9?±?5.7?ng/ml) than those without (8.95?±?4.2?ng/ml) and controls (5.3?±?2.6?ng/ml)(p?<?0.001). SLE patients with cutaneous vasculitis (n?=?9) had significantly higher sEPCR levels than those without (18.1?±?7.8 vs 10.2?±?5.2?ng/ml)(p?=?0.02). There was a significant correlation between sEPCR percentage of change and of SLEDAI-2k with and without LN (p?<?0.01 and p?<?0.05). A significant difference was observed in sEPCR according to the prognosis and treatment response after 3?months. mEPCR stained positively in glomeruli and tubules of LN patients with no relation to histopathological grading.Conclusion
sEPCR plays a role in the pathogenesis, is related to a bad prognosis and poor response to treatment in LN. mEPCR was not related to LN grading. 相似文献6.
Nesrine Barbana Adel Ben Youssef Mohamed Ali Rezgui Latifa Bousselmi Mohammad Al-Addous 《Materials》2020,13(22)
Titanium dioxide thin films immobilized over treated stainless steel were prepared using the pulsed electrophoretic deposition technique. The effects of process parameters (deposition time, applied voltage, initial concentration, and duty cycle) on photocatalytic efficiency and adhesion properties were investigated. To optimize the multiple properties of the thin film, a response surface methodology was combined with a desirability optimization methodology. Additionally, a quadratic model was established based on response surface analysis. The precision of the models was defined based on the analysis of variance (ANOVA), R2, and the normal plot of residuals. Then, a desirability function was used to optimize the multiple responses of the TiO2 thin film. The optimum values of applied voltage, catalyst concentration, duty cycle, and deposition time were 4 V, 16.34 g/L, 90% DC, and 150 s, respectively. Under these conditions, the decolorization efficiency of tested dye solution reached 82.75%. The values of critical charges LC1, LC2, and LC3 were 5.9 N, 12.5 N, and 16.7 N, respectively. 相似文献
7.
8.
Nesrine Ouda Amari Mohamed Bouzouina Abdellah Berkani Brahim Lotmani 《亚太热带病杂志(英文版)》2014,4(2):104-109
Objective
To assess antioxidant activities of different aerial parts of Thymelaea hirsuta (T. hirsuta) from west Algeria, and to search for new sources of safe and inexpensive antioxidants.Methods
Samples of leaves, stems and flowers from T. hirsuta were tested for total phenolic content, flavonoids content, and evaluation its total antioxidant activity, were done using the spectrophotometric analyses.Results
Results of preliminary phytochemical screening of leaf, flower and stem of T. hirsuta revealed the presence of tannins, alkaloids, steroids, saponins, coumarins, reducteurs compound and anthraquinones. The total phenolics and flavonoids were estimated. The aqueous extracts of the aerial parts of T. hirsuta showed potent in vitro antioxydant activities using various models viz, DPPH scavenging assay, ferric reducing antioxidant power (FRAP) and ABTS radical scavenging activity.Conclusions
On the basis of the results obtained, T. hirsuta extracts are rich sources of natural antioxidants appears to be an alternative to synthetic antioxidants and this justifies its therapeutic usage. 相似文献9.