Griscelli syndrome: a case report

A 10-year-old boy presented with partial albinism and typical clinical features of a macrophage activation syndrome (hepatosplenomegaly, fever, and pancytopenia), suggesting the diagnosis of Griscelli syndrome. The diagnosis was confirmed by light microscopic evaluation of hair that showed characteristic large aggregates of pigment granules irregularly distributed along the hair shaft. Immunosuppressive therapy controlled his macrophage activation syndrome successfully. Since early diagnosis is life saving and simple methods confirm the diagnosis, finding of partial albinism in children should alert clinicians to consider Griscelli syndrome.     

Scoring systems of metabolic syndrome and prediction of cardiovascular events: A population based cohort study

Background and AimsContinuous scoring systems were developed versus traditional dichotomous approaches to define metabolic syndrome. The current study was carried out to evaluate the ability of scoring systems to predict fatal and nonfatal cardiovascular events.Materials and MethodsThe data of 5147 individuals aged 18 years or more obtained from a population‐based cohort study were analyzed. The occurrence of atherosclerotic cardiovascular disease (ASCVD) in the period of 7 years follow‐up was considered as the associated outcome. Joint Interim Statement (JIS) definition, as a traditional definition of metabolic syndrome (MetS), and two versions of MetS scoring systems, based on standardized regression weights from structural equation modeling (SEM) and simple method for quantifying metabolic syndrome (siMS) were considered as potential predictors.ResultsThe scoring systems, particularly, based on SEM, were observed to have a significant association with composite cardiovascular events (HR = 1.388 [95% CI = 1.153–1.670], p = .001 in men and HR = 1.307 [0.95% CI = 1.120–1.526] in women) in multiple Cox proportional hazard regression analyses, whereas the traditional definition of MetS did not show any significant association. While both two scoring systems showed acceptable predictive abilities for cardiovascular events in women (MetS score based on SEM: area of under curve [AUC] = 0.7438 [95% CI = 0.6195–0.7903] and siMS: AUC = 0.7207 [95% CI = 0.6676–0.7738]), the two systems were not acceptable for identifying risk in men.ConclusionUnlike the dichotomous definition of MetS, the scoring systems showed an independent association with cardiovascular events. Scoring systems, particularly those based on SEM, may be useful for the prediction of cardiovascular events in women.     

Proteomic analysis of phospholipidosis in citalopram treated U937 cells--support for the cholesterol biosynthesis hypothesis.

Excessive accumulation of phospholipids leads to phospholipidosis (PL), which disrupts cellular functions, in extreme cases leading to acute or chronic disease. Citalopram and many other cationic amphiphilic drugs (CADs) have been shown to cause PL both in vitro and in vivo. Recent toxicogenomic studies suggest four hypothetical mechanisms for PL (lysosomal enzyme transport decrease, lysosomal phospholipase activity decrease, phospholipids biosynthesis increase or cholesterol biosynthesis increase). However, the post-genomic steps remain largely unknown and proteomic analyses hold significant promise for defining mechanisms of PL induction. In this study U937 monoblastoid cells were exposed to citalopram hydrobromide for 24 h (0, 20, 100 or 200 microM as citalopram free base) and then harvested for whole cell proteomic analysis using 2-D gel electrophoresis, or transmission electron microscopy (TEM). Protein spots that were significantly altered versus controls were analysed by MALDI-TOF mass spectrometry. Up-regulated proteins were Glyoxalase-I (Glo 1) and 3-Hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (HMGCS1) in cells with PL shown by TEM (favouring the cholesterol biosynthesis increase hypothesis for citalopram induced PL). Other altered proteins were catalase (up-regulated), beta-actin (up-regulated) and 14-3-3 protein (down-regulated). The function of several of the successfully identified proteins indicates a potential perturbed lipid metabolism.     

Reliability and validity of Persian version of Brief Self-Control Scale (BSCS) in motorcyclists

Abstract

Objective: The present study aimed to investigate the validity and reliability of the Persian version of brief self-control scale (BSCS) in Iranian motorcyclists.

Methods: The original English questionnaire of BSCS has been translated into Persian using the direct-reverse approach. A total of 130 motorcyclists aged 18–65?years old in Iran–Kashan completed the questionnaire. Validity was determined by content validity methods, structural validity through factor analysis, and also the convergence and divergence validity using Spearman correlation coefficient. The intra class correlation coefficient (ICC) was calculated to estimate the reliability of the self-control tool. Reliability was calculated using Cronbach's alpha.

Results: The mean and standard deviation of the age at the time of study was 38.5?±?13.5?years old and all of the subjects were male. Cronbach's alpha coefficient of the whole questionnaire (BSCS) was 0.81, which was good in this regard. The ICC coefficient was 0.88 with confidence interval of (0.8–0.93), which confirmed the repeatability of this tool. Exploratory factor analysis (EFA) yielded a two-factor solution accounted for 42% of the observed variance.

Conclusion: This study showed that Persian version of BSCS has a good reliability and validity for self-control in the Persian language community.

• Key points

• The Brief Self-Control Scale (BSCS) has good internal consistency.

• The Brief Self-Control Scale (BSCS) has acceptable reliability.

• Brief Self-control Scale (BSCS) has acceptable validity and reliability in the population studies.

     

A novel approach for curve evolution in segmentation of medical images

A new joint parametric and nonparametric curve evolution algorithm is proposed for medical image segmentation. In this algorithm, both the nonlinear space of level set function (nonparametric model) and the linear subspace of level set function spanned by the principle components (parametric model) are employed in the evolution procedure. The nonparametric curve evolution can drive the curve precisely to object boundaries while the parametric model acts as a statistical constraint based on the Bayesian framework in order to match object shape more robustly. As a result, our new algorithm is as robust as the parametric curve evolution algorithms and at the same time, yields more accurate segmentation results by using the shape prior information. Comparative results on segmenting ventricle frontal horns and putamen shapes in MR brain images confirm the advantages of the proposed joint curve evolution algorithm.