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1.
Cell Journal [Yakhteh]. 2018; 20 (2): 284-289
de Anglais | IMEMR | ID: emr-198741

RÉSUMÉ

Bardet-Biedl syndrome [BBS] is a pleiotropic and multisystemic disorder characterized by rod-cone dystrophy, polydactyly, learning difficulties, renal abnormalities, obesity and hypogonadism. This disorder is genetically heterogeneous. Until now, a total of nineteen genes have been identified for BBS whose mutations explain more than 80% of diagnosed cases. Recently, the development of next generation sequencing [NGS] technology has accelerated mutation screening of target genes, resulting in lower cost and less time consumption. Here, we screened the most common BBS genes [BBS1-BBS13] using NGS in an Iranian family of a proposita displaying symptoms of BBS. Among the 18 mutations identified in the proposita, one [BBS12 c.56T>G and BBS12 c.1156C>T] was novel. This compound heterozygosity was confirmed by Sanger sequencing in the proposita and her parents. Although our data were presented as a case report, however, we suggest a new probable genetic mechanism other than the conventional autosomal recessive inheritance of BBS. Additionally, given that in some Iranian provinces, like Khuzestan, consanguineous marriages are common, designing mutational panels for genetic diseases is strongly recommended, especially for those with an autosomal recessive inheritance pattern

2.
Emergency Journal. 2013; 1 (1): 15-19
de Anglais | IMEMR | ID: emr-170843

RÉSUMÉ

Timely diagnosis and treatment of post-traumatic elevated intracranial pressure [EICP] could be reduced morbidity and mortality, and improved patients' outcome. This study is trying to evaluate the diagnostic accuracy of sonographic optic nerve sheath diameter [ONSD] in detection of EICP. Sonographic ONSD of patients with head trauma or cerebrovascular accident suspicious for EICP were evaluated by a trained chief resident of emergency medicine, who was blind to the clinical and brain computed tomography scan [BCT] find-ings of patients. Immediately after ultrasonography, BCT was performed and reported by an expert radiologist without awareness from other results of the patients. Finally, ultrasonographic and BCT findings regarding EICP were compared. To evaluate the ability of sonographic ONSD in predicting the BCT findings and obtain best cut-off level, receiver operating characteristic [ROC] curve were used. Sensitivity, specificity, positive predictive value [PPV], negative predictive value [NPV], positive likelihood ratio [PLR], and negative likelihood ratio [NLR] of so-nographic ONSD in determining of EICP was calculated. P < 0.05 was considered as statistically significant. There were 222 patients [65.3% male], with mean age of 42.2 +/- 19.5 years [range: 16-90 years]. BCT showed signs of EICP, in 28 cases [12.6%]. The means of the ONSD in the patients with EICP and normal ICP were 5.5 +/- 0.56 and 3.93 +/- 0.53 mm, respectively [P<0.0001]. ROC curve demonstrated that the best cut off was 4.85 mm. Sensitivity, specificity, PPV, NPV, PLR, and NLR of ONSD for prediction of EICP were 96.4%, 95.3%, 72.2%, 98.9%, 20.6, and 0.04, respectively. Sonographic diameter of optic nerve sheath could be considered as an available, accurate, and noninvasive screening tool in determining the elevated intracranial pressure in cases with head trauma or cerebrovascular accident

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