Relapsing remitting multiple sclerosis in an Iranian patient with neurofibromatosis type I

Neurofibromatosis type 1 (NF-1) is a common hereditary neurocutaneous disease, with known gene mutations, that mainly involves the skin and nervous system. Multiple sclerosis (MS) is an acquired inflammatory disease in which the myelin of nerve cells in the brain and spinal cord is damaged. These two disease do not share any apparent pathological similarities. We herein present a 32-year-old woman with definite NF-1, who has recently been diagnosed with MS, which to the best of our knowledge is a rare co-occurrence. Though there are often neurologic sign and symptoms in patients with NF-1, they should not always be considered as the natural history of the disease, and other overlapped pathologies should be kept in mind, in order to not miss or postpone the efficient treatment. © N. Mohebi et al., 2015

Identification of a De novo 3bp deletion in CRYBA1/A3 gene in Autosomal dominant congenital cataract

Autosomal dominant congenital cataract (ADCC) is the most common form of inherited cataracts and accounts for one-third of congenital cataracts. Heterozygous null mutations in the crystallin genes are the major cause of the ADCC. This study aims to detect the mutational spectrum of four crystallin genes, CRYBA1/A3, CRYBB1, CRYBB2 and CRYGD in an Iranian family. Genomic DNA was isolated from whole blood cells from theproband and other family members. The coding regions and flanking intronicsequences of crystalline genes were analyzed by Sanger sequencing in aproband with ADCC. The identified mutation was further evaluated in available family members. To predict the potential protein partners of CRYBA1/A3, we also used an in-silico analysis. A de novo heterozygous deletion (c.272-274delGAG, p.G91del) in exon 4 of CRYBA1/A3 gene, leading to a deletion of Glycine at codon 91 was found. This genetic variation did not change the reading frame of CRYBA1 protein. In conclusion, we identified a de novo in-frame 3-bp deletion in the proband with an autosomal dominant congenital cataract, but not in her parents, in an Iranian family. This mutation has occurred de novo on a paternal gamete during spermatogenesis. The in-silico results predicted the interaction of CRYBA1 protein with the other CRY as well as proteins responsible for eye cell signaling. � 2016 Tehran University of Medical Sciences. All rights reserved

Epidemiological alteration in pathogens found in ground meat in Iran: unexpected predominance of vancomycin-resistant Enterococcus faecalis

Colonization of the human and animal intestinal tract with potential pathogenic bacteria is correlated with the risk of contamination of food products. The current study analyzed the prevalence of Enterococcus faecalis and Escherichia coli O157H7 in ground meat in Ilam, Iran. Both index organisms were identified following standard food microbiological methods. For E. faecalis, the susceptibility to vancomycin was tested, and PCR was used to check for the vanA gene. E. faecalis was present in all 24 ground meat samples, with no E. coli O157H7 detected in samples. The analysis showed the presence of the vanA gene in 5/24 vancomycin resistant enterococci. In conclusion, this study for the first time demonstrates the presence of vancomycin-resistant enterococci in ground meat in Iran. This observation warrants further epidemiologic investigation and should be followed up in the future

Clustering Algorithms for Spatial Big Data

In our time people and devices constantly generate data. User activity generates data about needs and preferences as well as the quality of their experiences in different ways: i. e. streaming a video, looking at the news, searching for a restaurant or a an hotel, playing a game with others, making purchases, driving a car. Even when people put their devices in their pockets, the network is generating location and other data that keeps services running and ready to use. This rapid developments in the availability and access to data and in particular spatially referenced data in a different areas, has induced the need for better analysis techniques to understand the various phenomena. Spatial clustering algorithms, which groups similar spatial objects into classes, can be used for the identification of areas sharing common characteristics. The aim of this paper is to analyze the performance of three different clustering algorithms i.e. the Density-Based Spatial Clustering of Applications with Noise algorithm (DBSCAN), the Fast Search by Density Peak (FSDP) algorithm and the classic K-means algorithm (K-Means) as regards the analysis of spatial big data. We propose a modification of the FSDP algorithm in order to improve its efficiency in large databases. The applications concern both synthetic data sets and satellite images

Laboratories risks evaluation of Persian Gulf and Oman Sea Ecological Research Center

In this study, to assess and classify risks associated with working in the laboratories of Persian Gulf and Oman Sea Ecological Research Center, the method of "Failure Mode Effects Analysis" (FMEA) as well as some statistical methods were used. The results of the risk assessment in the 11 affiliated laboratories showed that the risk levels in all cases, except for benthos laboratory, could be evaluated as moderate or high and therefore appropriate corrective actions must be implemented. Based on the results of the Kruskal-Wallis tests both before and after the corrective actions, there were significant differences between the laboratories from the viewpoint of risk priority number (RPN). The post hoc tests showed the lowest risk levels for the benthose and histology laboratories, while the highest risks identified in the laboratory of instrumental analysis. The results of the classification of the laboratories using cluster analysis are largely similar to those of the posthoc tests. According to Mann-Whitney U test, only in the case of the samples preparation laboratory, significant differences between the values of the RPN before and after the corrective actions could be observed (p> 0.05), however, the risk levels still remained high. In general it can be concluded that FMEA is an effective method for risk assessment in the research laboratories and appropriate statistical methods can also be used for complementary analysis

Cardiorenal Biomarkers, Canagliflozin, and Outcomes in Diabetic Kidney Disease: The CREDENCE Trial

BACKGROUND: People with type 2 diabetes and albuminuria are at an elevated risk for cardiac and renal events. The optimal biomarkers to aid disease prediction and to understand the benefits of sodium-glucose cotransporter-2 inhibition remain unclear. METHODS: Among 2627 study participants in the CREDENCE trial (Canagliflozin and Renal Events in Diabetes With Established Nephropathy Clinical Evaluation), concentrations of NT-proBNP (N-terminal pro-B-type natriuretic peptide), high-sensitivity cardiac troponin T, growth differentiation factor-15, and IGFBP7 (insulin-like growth factor binding protein 7) were measured. The effect of canagliflozin on biomarker concentrations was evaluated. The prognostic potential of each biomarker on the primary outcome (a composite of end-stage kidney disease [dialysis, transplantation, or a sustained estimated glomerular filtration rate of <15 mL·min-1·1.73 m-2], doubling of the serum creatinine level, or renal death or cardiovascular death) was assessed. RESULTS: The median (quartiles 1 and 3) concentration of each biomarker was generally elevated: NT-proBNP, 180 ng/L (82, 442 ng/L); high-sensitivity cardiac troponin T, 19 ng/L (12, 29 ng/L); growth differentiation factor-15, 2595 ng/L (1852, 3775 ng/L); and IGFBP7, 121.8 ng/mL (105.4, 141.5 ng/mL). At 1 year, the biomarkers all rose by 6% to 29% in the placebo arm but only by 3% to 10% in the canagliflozin arm (all P<0.01 in multivariable linear mixed-effect models). Baseline concentrations of each biomarker were strongly predictive of cardiac and renal outcomes. When the biomarkers were analyzed together in a multimarker panel, individuals with high risk scores (hazard ratio [HR], 4.01 [95% CI, 2.52-6.35]) and moderate risk scores (HR, 2.39 [95% CI, 1.48-3.87]) showed a higher risk for the primary outcome compared with those with low risk scores. By 1 year, a 50% increase in NT-proBNP (HR, 1.11 [95% CI, 1.08-1.15]), high-sensitivity cardiac troponin T (HR, 1.86 [95% CI, 1.64-2.10]), growth differentiation factor-15 (HR, 1.45 [95% CI, 1.24-1.70]), and IGFBP7 (HR, 3.76 [95% CI, 2.54-5.56]) was associated with risk of the primary outcome. CONCLUSIONS: Multiple cardiorenal stress biomarkers are strongly prognostic in people with type 2 diabetes and albuminuria. Canagliflozin modestly reduced the longitudinal trajectory of rise in each biomarker. Change in the biomarker level in addition to the baseline level augments the primary outcome prediction. REGISTRATION: URL: https://www. CLINICALTRIALS: gov; Unique identifier: NCT02065791

Echocardiographic characteristics including tissue Doppler imaging after enhanced external counterpulsation therapy.

This study assessed the effects of a course of enhanced external counterpulsation (EECP) therapy on systolic and diastolic cardiac function using echocardiography to measure left ventricular ejection fraction (LVEF), end-systolic volume (ESV), end-diastolic volume (EDV), systolic wave (Sm), early diastolic wave (Ea), Vp, E/Ea, E/Vp, and diastolic function grade in 25 patients before and after 35 hours of EECP. EECP reduced ESV and EDV and increased ejection fraction significantly in patients with baseline LVEF or = 14 (P=.032, .038, .007), baseline grade II or III diastolic dysfunction (decreased compliance) (P=.014, .032, .027), baseline Ea 50, baseline E/Ea or = 7 cm/s, and Sm > or = 7 cm/s. These results demonstrate improved systolic and diastolic function in selected patients and provide new insight into potential clinical applications of EECP

Echocardiographic characteristics including tissue Doppler imaging after enhanced external counterpulsation therapy.

This study assessed the effects of a course of enhanced external counterpulsation (EECP) therapy on systolic and diastolic cardiac function using echocardiography to measure left ventricular ejection fraction (LVEF), end-systolic volume (ESV), end-diastolic volume (EDV), systolic wave (Sm), early diastolic wave (Ea), Vp, E/Ea, E/Vp, and diastolic function grade in 25 patients before and after 35 hours of EECP. EECP reduced ESV and EDV and increased ejection fraction significantly in patients with baseline LVEF or = 14 (P=.032, .038, .007), baseline grade II or III diastolic dysfunction (decreased compliance) (P=.014, .032, .027), baseline Ea 50, baseline E/Ea or = 7 cm/s, and Sm > or = 7 cm/s. These results demonstrate improved systolic and diastolic function in selected patients and provide new insight into potential clinical applications of EECP

Benefícios do ômega 3 na prevenção de doença cardiovascular: Revisão integrativa de literatura

Introduction: Omega-3 polyunsaturated fatty acids such as alpha-linolenic acid (ALA), a fat found in plant foods, and eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA), both found in fish, have been considered relevant substances for the maintenance of health, so that supplementation is being considered relevant for the reduction of cardiovascular risks. Objective: To identify and analyze the scientific evidence available in the literature on the contribution of omega 3 in the prevention and treatment of cardiovascular disease. Materials and Methods: Integrative literature review, with deference to materials published in the Scielo and PubMed databases, which considered as inclusion criteria articles published in the last 5 years, available in full, in English, Spanish, and Portuguese, which addressed the proposed theme; the exclusion criteria were editorials, letters to the editor, review studies, theses, dissertations, and duplicate articles that did not correspond to the theme. Results: Based on the aforementioned scientific evidence, the body's omega-3 indices are relevant to identify possible cardiovascular risk, so it can therefore be used as an objective for treatment when there is a possible risk for these manifestations. This risk factor can be modified by taking EPA and DHA. The standard 1 g/day dose of EPA and DHA recommended by cardiac societies is, however, probably far from ideal for everyone, as not only this standard dose but also diet, individual genetic history, body mass index, calorie intake and disposal, and other factors all together probably determine a person's level of omega-3 fatty acids. Therefore, it is suggested that the omega-3 index acts not only as a risk factor for cardiovascular disease, but that other contexts allied to the patient's lifestyle should be considered. Conclusion: Diet or supplementation of these nutrients may result in cardiovascular and other types of benefits to society as a whole

Polymerase δ replicates both strands after homologous recombination-dependent fork restart

To maintain genetic stability DNA must be replicated only once and replication completed even when individual replication forks are inactivated. Because fork inactivation is common, the passive convergence of an adjacent fork is insufficient to rescue all inactive forks. Thus, eukaryotic cells have evolved homologous recombination-dependent mechanisms to restart persistent inactive forks. Completing DNA synthesis via Homologous Recombination Restarted Replication (HoRReR) ensures cell survival, but at a cost. One such cost is increased mutagenesis caused by HoRReR being more error prone than canonical replication. This increased error rate implies that the HoRReR mechanism is distinct from that of a canonical fork. Here we exploit the fission yeast Schizosaccharomyces pombe to demonstrate that a DNA sequence duplicated by HoRReR during S phase is replicated semi-conservatively, but that both the leading and lagging strands are synthesised by DNA polymerase delta