Pathologie-biologie最新文献

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IgD multiple myeloma: Clinical, biological features and prognostic value of the serum free light chain assay IgD多发性骨髓瘤:血清游离轻链试验的临床、生物学特征和预后价值
Pathologie-biologie Pub Date : 2015-09-01 DOI: 10.1016/j.patbio.2015.06.002
R. Djidjik , Y. Lounici , K. Chergeulaïne , Y. Berkouk , S. Mouhoub , S. Chaib , M. Belhani , M. Ghaffor
{"title":"IgD multiple myeloma: Clinical, biological features and prognostic value of the serum free light chain assay","authors":"R. Djidjik ,&nbsp;Y. Lounici ,&nbsp;K. Chergeulaïne ,&nbsp;Y. Berkouk ,&nbsp;S. Mouhoub ,&nbsp;S. Chaib ,&nbsp;M. Belhani ,&nbsp;M. Ghaffor","doi":"10.1016/j.patbio.2015.06.002","DOIUrl":"10.1016/j.patbio.2015.06.002","url":null,"abstract":"<div><p>IgD multiple myeloma (MM) is a rare subtype of myeloma, it affects less than 2% of patients with MM. To evaluate the clinical and prognostic attributes of serum free light chains (sFLCs) analysis, we examined 17 cases of IgD MM. From 1998 to 2012, we obtained 1250 monoclonal gammapathies including 590 multiple myeloma and 17 patients had IgD MM. With preponderance of men patients with a mean age at diagnosis of: 59<!--> <!-->±<!--> <!-->12<!--> <!-->years. Patients with IgD MM have a short survival (Median survival<!--> <!-->=<!--> <!-->9<!--> <!-->months). The presenting features included: bone pain (75%), lymphadenopathy (16%), hepatomegaly (25%), splenomegaly (8%), associated AL amyloidosis (6%), renal impairment function (82%), infections (47%), hypercalcemia (37%) and anemia (93%). Serum electrophoresis showed a subtle M-spike (Mean<!--> <!-->=<!--> <!-->13.22<!--> <!-->±<!--> <!-->10<!--> <!-->g/L) in all patients associated to a hypogammaglobulinemia. There was an over-representation of Lambda light chain (65%); high serum β2-microglobulin in 91% and Bence Jones proteinuria was identified in 71%. The median rate of sFLCs κ was 19.05<!--> <!-->mg/L and 296.75<!--> <!-->mg/L for sFLCs λ. sFLCR was abnormal in 93% of patients and it showed concordance between baseline sFLCR and the survival (<em>P</em> <!-->=<!--> <!-->0.034). The contribution of FLC assay is crucial for the prognosis of patients with IgD MM.</p></div>","PeriodicalId":19743,"journal":{"name":"Pathologie-biologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.patbio.2015.06.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34109054","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: 13
Lupus érythémateux systémique se présentant comme un syndrome de Stevens-Johnson 系统性红斑狼疮表现为史蒂文-约翰逊综合征
Pathologie-biologie Pub Date : 2015-09-01 DOI: 10.1016/j.patbio.2015.05.001
S. Bellakhal, B. Ben Kaab, Z. Teyeb, A. Souissi, F. Derbel, M.-H. Douggui
{"title":"Lupus érythémateux systémique se présentant comme un syndrome de Stevens-Johnson","authors":"S. Bellakhal,&nbsp;B. Ben Kaab,&nbsp;Z. Teyeb,&nbsp;A. Souissi,&nbsp;F. Derbel,&nbsp;M.-H. Douggui","doi":"10.1016/j.patbio.2015.05.001","DOIUrl":"10.1016/j.patbio.2015.05.001","url":null,"abstract":"<div><p>Stevens-Johnson syndrome and toxic epidermal necrolysis are life-threatening dermatological conditions. Their most common cause is medication. However, in a small proportion of patients these dermatological conditions could be the first presentation of systemic lupus erythematosus. We now describe a 34-year-old patient who presented with manifestations of Stevens-Johnson as a first feature of systemic lupus erythematosus. Systemic lupus erythematosus reveled by Stevens-Johnson syndrome has been infrequently reviewed in the previous literature. This diagnosis should be considered when cutaneous adverse drug reactions occur without clear drug causality.</p></div>","PeriodicalId":19743,"journal":{"name":"Pathologie-biologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.patbio.2015.05.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33275103","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: 2
Stress in biology and medicine, role in aging 生物和医学中的压力,在衰老中的作用
Pathologie-biologie Pub Date : 2015-09-01 DOI: 10.1016/j.patbio.2015.07.008
L. Robert, J. Labat-Robert
{"title":"Stress in biology and medicine, role in aging","authors":"L. Robert,&nbsp;J. Labat-Robert","doi":"10.1016/j.patbio.2015.07.008","DOIUrl":"10.1016/j.patbio.2015.07.008","url":null,"abstract":"<div><p>In this review, we present a short description of the history of stress in the medical literature followed by a recapitulation of its mechanisms, from the cellular to the organismal level and its role in aging. The medical importance of stress was first taken up as a subject of experimental medicine by physiologists, starting from Claude Bernard's concept of the stability of the “milieu intérieur”, altered by stress, followed by others, culminating recently by the elucidation of its mechanisms at the cellular and molecular level. These studies showed that oxidative stress is one of the most important and most frequent form of biological aggression. Its accumulation over time is important for the burnout syndrome and for neuronal aging. There is however a positive side to it also, redox signaling plays an important role in the functional coordination of cellular activities. These mechanisms, still to be more completely evaluated, have to be taken in account for planning efficient protective therapeutic interventions.</p></div>","PeriodicalId":19743,"journal":{"name":"Pathologie-biologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.patbio.2015.07.008","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33963279","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: 16
CXCL12 and CXCR4 as predictive biomarkers of glioma recurrence pattern after total resection CXCL12和CXCR4作为胶质瘤全切除后复发模式的预测性生物标志物
Pathologie-biologie Pub Date : 2015-09-01 DOI: 10.1016/j.patbio.2015.07.002
W. Tang , X. Wang , Y. Chen , J. Zhang , Y. Chen , Z. Lin
{"title":"CXCL12 and CXCR4 as predictive biomarkers of glioma recurrence pattern after total resection","authors":"W. Tang ,&nbsp;X. Wang ,&nbsp;Y. Chen ,&nbsp;J. Zhang ,&nbsp;Y. Chen ,&nbsp;Z. Lin","doi":"10.1016/j.patbio.2015.07.002","DOIUrl":"10.1016/j.patbio.2015.07.002","url":null,"abstract":"<div><h3>Purpose of the study</h3><p>Previous studies have shown that the pattern of recurrence for glioma is related to the direction of glioma cell invasion. Recent studies demonstrated that the CXCL12/CXCR4 signaling pathway mediates cellular invasion in glioma. Therefore, in this study, we investigated the possible relationship between CXCL12/CXCR4 expression and recurrence pattern in glioma.</p></div><div><h3>Patients and methods</h3><p>Immunohistochemical techniques were used to assess CXCL12/CXCR4 expression in 42 glioma tissues following total resection. According to magnetic resonance imaging (MRI) of gliomas, the recurrence pattern was classified as close or distant pattern. The relationship between recurrence pattern and CXCL12/CXCR4 expression were initially examined by Chi-squared analysis. The prognostic significance of CXCL12 and CXCR4 was determined by log-rank tests and COX proportional hazards model.</p></div><div><h3>Results</h3><p>CXCL12 was expressed mainly in vascular endothelial cells and CXCR4 was expressed mainly in tumor cells. The recurrence pattern was significantly related to the expression level of CXCL12 in vascular endothelial cells (<em>P</em> <!-->=<!--> <!-->0.002) and CXCR4 in tumor cells (<em>P</em> <!-->=<!--> <!-->0.004). However, CXCL12 and CXCR4 were not independent prognostic factors for progression-free survival or overall survival in glioma patients.</p></div><div><h3>Conclusion</h3><p>The glioma recurrence pattern is related to CXCL12 expression levels in vascular endothelial cells and CXCR4 expression levels in tumor cells; thus, implicating the CXCL12/CXCR4 signaling pathway as a potential target for glioma therapy.</p></div>","PeriodicalId":19743,"journal":{"name":"Pathologie-biologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.patbio.2015.07.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34095115","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: 20
Meningococcal vaccines: Current state and future outlook 脑膜炎球菌疫苗:现状和未来展望
Pathologie-biologie Pub Date : 2015-06-01 DOI: 10.1016/j.patbio.2015.04.003
M. Leca , C. Bornet , M. Montana , C. Curti , P. Vanelle
{"title":"Meningococcal vaccines: Current state and future outlook","authors":"M. Leca ,&nbsp;C. Bornet ,&nbsp;M. Montana ,&nbsp;C. Curti ,&nbsp;P. Vanelle","doi":"10.1016/j.patbio.2015.04.003","DOIUrl":"10.1016/j.patbio.2015.04.003","url":null,"abstract":"<div><p><em>Neisseria meningitidis</em> infections are a major public health problem worldwide. Although conventional approaches have not led to development of a serogroup B meningococcal vaccine, a new technique based on genome sequencing has created new perspectives. Recently, a universal serogroup B meningococcal vaccine, Bexsero<sup>®</sup>, was licensed in Europe, Australia and United States, following several clinical studies demonstrating its immunogenicity and safety. Availability of this vaccine could contribute positively to human health, by significantly reducing the incidence of meningococcal infections. However, unfavorable cost-effectiveness analysis means that routine vaccination is not currently recommended. Another serogroup meningococcal vaccine, Trumemba<sup>®</sup>, was also recently licensed in United States. Like any drug, Bexsero<sup>®</sup> and Trumemba<sup>®</sup> will require close observation to assess their impact on meningococcal epidemiology.</p></div>","PeriodicalId":19743,"journal":{"name":"Pathologie-biologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.patbio.2015.04.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33314392","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: 21
Pathophysiology and treatment of typical and atypical hemolytic uremic syndrome 典型与非典型溶血性尿毒症综合征的病理生理及治疗
Pathologie-biologie Pub Date : 2015-06-01 DOI: 10.1016/j.patbio.2015.03.001
C. Picard , S. Burtey , C. Bornet , C. Curti , M. Montana , P. Vanelle
{"title":"Pathophysiology and treatment of typical and atypical hemolytic uremic syndrome","authors":"C. Picard ,&nbsp;S. Burtey ,&nbsp;C. Bornet ,&nbsp;C. Curti ,&nbsp;M. Montana ,&nbsp;P. Vanelle","doi":"10.1016/j.patbio.2015.03.001","DOIUrl":"10.1016/j.patbio.2015.03.001","url":null,"abstract":"<div><p>Hemolytic uremic syndrome is a rare disease, frequently responsible for renal insufficiency in children. Recent findings have led to renewed interest in this pathology. The discovery of new gene mutations in the atypical form of HUS and the experimental data suggesting the involvement of the complement pathway in the typical form, open new perspectives for treatment. This review summarizes the current state of knowledge on both typical and atypical hemolytic uremic syndrome pathophysiology and examines new perspectives for treatment.</p></div>","PeriodicalId":19743,"journal":{"name":"Pathologie-biologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.patbio.2015.03.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33193586","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: 47
Losartan reverses the down-expression of long noncoding RNA-NR024118 and Cdkn1c induced by angiotensin II in adult rat cardiac fibroblasts 氯沙坦逆转血管紧张素II诱导的成年大鼠心脏成纤维细胞中长链非编码RNA-NR024118和Cdkn1c的下调表达
Pathologie-biologie Pub Date : 2015-06-01 DOI: 10.1016/j.patbio.2015.04.001
X. Jiang, F. Zhang, Q. Ning
{"title":"Losartan reverses the down-expression of long noncoding RNA-NR024118 and Cdkn1c induced by angiotensin II in adult rat cardiac fibroblasts","authors":"X. Jiang,&nbsp;F. Zhang,&nbsp;Q. Ning","doi":"10.1016/j.patbio.2015.04.001","DOIUrl":"10.1016/j.patbio.2015.04.001","url":null,"abstract":"<div><p>Angiotensin II (Ang II) plays a pivotal role in the pathogenesis of cardiac fibrosis and long noncoding RNAs (lncRNAs) have been found to be involved in human diseases. The roles of Ang II receptors (AT1 and AT2) have been controversial. Our previous studies revealed that Ang II dynamically down-regulated the expression of lncRNA-NR024118 and Cdkn1c in adult rat cardiac fibroblasts. However, up to now, whether the decrease of lncRNA-NR024118 and Cdkn1c induced by Ang II is mediated by AT1 or AT2 has never been illustrated. In order to reveal which subtype of Ang II receptors mediate the decrease of lncRNA-NR024118 and Cdkn1c induced by Ang II, we studied the expression of NR024118 and Cdkn1c with different receptor blockers in Ang II–treated adult rat cardiac fibroblasts. In this study, we found that losartan (AT1 blocker) nearly completely reversed the decrease of lncRNA-NR024118 and partly reversed the decrease of Cdkn1c induced by Ang II in adult rat cardiac fibroblasts, while AT2 blocker (PD123319) did not show effect to the level of lncRNA-NR024118 and Cdkn1c. In conclusion, our current studies showed that the decrease of lncRNA-NR024118 and Cdkn1c induced by Ang II is mediated by AT1 receptor-dependent not AT2 receptor-dependent, which is helpful to understand the molecular mechanism of Ang II receptors in adult rat cardiac fibroblasts.</p></div>","PeriodicalId":19743,"journal":{"name":"Pathologie-biologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.patbio.2015.04.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33308432","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: 24
Prenatal diagnosis of cystic fibrosis: 10-years experience 囊性纤维化产前诊断:10年经验
Pathologie-biologie Pub Date : 2015-06-01 DOI: 10.1016/j.patbio.2015.04.002
S. Hadj Fredj , F. Ouali , H. Siala , A. Bibi , R. Othmani , B. Dakhlaoui , F. Zouari , T. Messaoud
{"title":"Prenatal diagnosis of cystic fibrosis: 10-years experience","authors":"S. Hadj Fredj ,&nbsp;F. Ouali ,&nbsp;H. Siala ,&nbsp;A. Bibi ,&nbsp;R. Othmani ,&nbsp;B. Dakhlaoui ,&nbsp;F. Zouari ,&nbsp;T. Messaoud","doi":"10.1016/j.patbio.2015.04.002","DOIUrl":"10.1016/j.patbio.2015.04.002","url":null,"abstract":"<div><h3>Purpose</h3><p>We present in this study our 10<!--> <!-->years experience in prenatal diagnosis of cystic fibrosis performed in the Tunisian population.</p></div><div><h3>Patients and methods</h3><p>Based on family history, 40 Tunisian couples were selected for prenatal diagnosis. Fetal DNA was isolated from amniotic fluid collected by transabdominal amniocentesis or from chronic villi by transcervical chorionic villus sampling. The genetic analysis for cystic fibrosis mutations was performed by denaturant gradient gel electrophoresis and denaturing high-pressure liquid phase chromatography. We performed microsatellites analysis by capillary electrophoresis in order to verify the absence of maternal cell contamination.</p></div><div><h3>Results</h3><p>Thirteen fetuses were affected, 21 were heterozygous carriers and 15 were healthy with two normal alleles of <em>CFTR</em> gene. Ten couples opted for therapeutic abortion. The microsatellites genotyping showed the absence of contamination of the fetal DNA by maternal DNA in 93.75%.</p></div><div><h3>Conclusion</h3><p>Our diagnostic strategy provides rapid and reliable prenatal diagnosis at risk families of cystic fibrosis.</p></div>","PeriodicalId":19743,"journal":{"name":"Pathologie-biologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.patbio.2015.04.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33326750","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: 5
Cathelicidin related antimicrobial peptide, laminin, Toll-like receptors and chemokines levels in experimental hypersensitivity pneumonitis in mice 实验性过敏性肺炎小鼠抗菌肽相关抗菌肽、层粘连蛋白、toll样受体和趋化因子水平
Pathologie-biologie Pub Date : 2015-06-01 DOI: 10.1016/j.patbio.2015.03.002
M. Golec , M.K. Lemieszek , C. Skórska , J. Sitkowska , J. Zwoliński , B. Mackiewicz , A. Góra-Florek , J. Milanowski , J. Dutkiewicz
{"title":"Cathelicidin related antimicrobial peptide, laminin, Toll-like receptors and chemokines levels in experimental hypersensitivity pneumonitis in mice","authors":"M. Golec ,&nbsp;M.K. Lemieszek ,&nbsp;C. Skórska ,&nbsp;J. Sitkowska ,&nbsp;J. Zwoliński ,&nbsp;B. Mackiewicz ,&nbsp;A. Góra-Florek ,&nbsp;J. Milanowski ,&nbsp;J. Dutkiewicz","doi":"10.1016/j.patbio.2015.03.002","DOIUrl":"10.1016/j.patbio.2015.03.002","url":null,"abstract":"<div><h3>Introduction</h3><p>Hypersensitivity pneumonitis (HP) is an interstitial lung disease caused by unresolved inflammation and tissue repair pathologies triggered by repeated organic dust exposure. The aim of the study was to investigate changes in levels of the cathelicidin related antimicrobial peptide (CRAMP), laminin (LAM-A1), selected Toll-like receptors (TLR) and chemokines in experimental HP in mice.</p></div><div><h3>Materials and methods</h3><p>Three and 18-month-old female C57BL/6J mice underwent inhalations of the saline extract of <em>Pantoea agglomerans</em> cells, Gram-negative bacterium common in organic dust and known for its pathogenic impact. The inhalations were repeated daily (28 days). ELISA was used for measuring in lung tissue homogenates concentration of CRAMP, LAM-A1, TLR2, TLR4, TLR8, CXCL9 (chemokine [C-X-C motif] ligand) and CXCL10.</p></div><div><h3>Results</h3><p>Levels of TLR2, TLR4 and CXCL9 were significantly higher in both young and old mice lungs already after 7 days of inhalations, while significant increase of LAM-A1 and CXCL10 was noted after 28 days, compared to untreated samples. TLR8 level was significantly augmented only in young mice. Only CRAMP level significantly declined. Significantly higher TLR8 and CXCL9 concentration in untreated samples were noted in old animals compared to young ones.</p></div><div><h3>Conclusion</h3><p>Significant alterations of the examined factors levels indicate their role in HP pathogenesis.</p></div>","PeriodicalId":19743,"journal":{"name":"Pathologie-biologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.patbio.2015.03.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33058362","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: 9
Molecular characterization of piebaldism in a Tunisian family 突尼斯一个家庭中piebaldism的分子特征
Pathologie-biologie Pub Date : 2015-06-01 DOI: 10.1016/j.patbio.2015.03.004
E. Kerkeni , S. Boubaker , S. Sfar , M. Bizid , H. Besbes , S. Bouaziz , N. Ghedira , A. Amara , W. Manoubi , M. Gribaa , K. Monastiri
{"title":"Molecular characterization of piebaldism in a Tunisian family","authors":"E. Kerkeni ,&nbsp;S. Boubaker ,&nbsp;S. Sfar ,&nbsp;M. Bizid ,&nbsp;H. Besbes ,&nbsp;S. Bouaziz ,&nbsp;N. Ghedira ,&nbsp;A. Amara ,&nbsp;W. Manoubi ,&nbsp;M. Gribaa ,&nbsp;K. Monastiri","doi":"10.1016/j.patbio.2015.03.004","DOIUrl":"10.1016/j.patbio.2015.03.004","url":null,"abstract":"<div><h3>Objective</h3><p>The present study is aimed at performing the molecular characterization of a Tunisian family with piebaldism.</p></div><div><h3>Methods</h3><p>As the proband and her mother showed a severe phenotype, we first chose to screen exons 10, 11, 12, 13, 16, 17 and 18 of the <em>KIT</em> proto-oncogene by direct sequencing.</p></div><div><h3>Results</h3><p>Direct sequencing analysis showed a C to T substitution at 1939 in exon 13 (c.1939C&gt;T) in heterozygous state in the patient and his mother. The mutation was not found in their unaffected family members or normal controls.</p></div><div><h3>Conclusion</h3><p>Our results provide additional support that mutations in the tyrosine kinase domain of the <em>KIT</em> gene are responsible for the severe form of piebaldism.</p></div>","PeriodicalId":19743,"journal":{"name":"Pathologie-biologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.patbio.2015.03.004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33249079","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: 4
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