Search

In this study, Golden Sine Algorithm (Gold-SA) is presented as a new metaheuristic method for solving optimization problems. Gold-SA has been developed as a new search algorithm based on population. This math-based algorithm is inspired by sine that is a trigonometric function. In the algorithm, random individuals are created as many as the number of search agents with uniform distribution for each dimension. The Gold-SA operator searches to achieve a better solution in each iteration by trying to bring the current situation closer to the target value. The solution space is narrowed by the golden section so that the areas that are supposed to give only good results are scanned instead of the whole solution space scan. In the tests performed, it is seen that Gold-SA has better results than other population based methods. In addition, Gold-SA has fewer algorithm-dependent parameters and operators than other metaheuristic methods, increasing the importance of this method by providing faster convergence of this new method.

BACKGROUND/OBJECTIVES: Glycogen storage disease type I (GSD I) is an autosomal recessive metabolic disorder caused by defects in the glucose-6-phosphatase complex. Deficient activity in the glucose-6-phosphatase-α catalytic unit characterizes GSD Ia and defects in the glucose-6-phosphate transporter protein characterize GSD Ib. Type Ia involves the liver, kidney and intestine (and Ib also leukocytes), and the clinical manifestations are hepatomegaly, failure to thrive, severe fasting hypoglycemia within 3-4 h after a meal, hyperlactatemia, hyperuricemia and hyperlipidemia. The aim of the present study was to examine the safety and efficacy of a continuous subcutaneous glucose monitoring system to determine the magnitude and significance of hypoglycemia in GSD I and to evaluate the efficacy of the revised dietary treatment. SUBJECTS/METHODS: Sixteen children with GSD I were studied over a 72-h period. Continuous glucose monitoring (CGM) was repeated in all patients 3-6 months after the first monitoring to examine the effects of revised dietary instructions on glycemic control. RESULTS: All the patients completed the study without any major adverse events. Significant periods of asymptomatic hypoglycemia (below 4mmol/l, 70mg/dl) were noted. There was a close correlation between CGM sensor and capillary blood glucose values measured by a glucometer. CGM indicated a considerable reduction in duration of hypoglycemia, liver size and improvements in secondary metabolic derangements such as hyperlacticacidemia and hyperlipidemia. CONCLUSIONS: CGM could be applied in the clinical setting to help the physician to identify hypoglycemic events, and repeated CGM may serve as a safe and useful tool for the assessment of the long-term management of patients with GSD I. European Journal of Clinical Nutrition (2014) 68, 101-105; doi: 10.1038/ejcn.2013.186; published online 23 October 2013 Keywords: glycogen storage disease I; continuous glucose monitoring; metabolic parameters, INTRODUCTION Glycogen storage disease type I (GSD I), characterized by impaired production of glucose from glycogenolysis and gluconeogenesis, results from defects in the glucose 6-phosphate enzyme system. Glucose-6-phosphatase is affected [...]

Background: Aetiological diagnosis in non‐syndromic intellectual disability (NSID) still poses a diagnostic challenge to clinicians. Methods: Screening is currently achieved by chromosomal microarrays followed by whole‐exome sequencing (WES). In search for the aetiological yield of WES in patients with NSID, 59 unrelated patients were studied. Results: Among the 59 patients, 44 (74.6%) were from consanguineous unions. Epilepsy was present in 11 (37.9%), behavioural problems in 12 (41.4%) and autistic features in 14 (48.3%). WES analysis resulted in molecular diagnosis in 29 patients (49.2%). Some of the genes were specific for nervous system functioning, like HERC1, TBC1D7, LINS, HECW2, DEAF1, HNMT, DLG3, NRXN1 and HUWE1. Others were ubiquitously expressed genes involved in fundamental cellular processes, like IARS, UBE3A, COQ4, TAF1, SETBP1, ARV1, ZC4H2, KAT6A, ASXL3, THOC6, HNRNPH2, TUBA8 and KIF1A. Twenty‐two (75.8%) were consanguineously married; however, only 12 (41.4%) of the detected genes caused autosomal recessive phenotypes. Conclusions: This cohort suggests that recessive genes probably represent an actually smaller subgroup of NSID, even among families with consanguinity. Although in societies with high consanguinity rates, considering the recessive inheritance first seems to be an advantageous strategy, de novo mutations in autosomal dominantly expressed genes represent the major aetiological group in patients with NSID, even among those patients from consanguineous families. [ABSTRACT FROM AUTHOR]

Background: High-density lipoprotein cholesterol (HDL-C) levels are inversely related to the atherosclerotic burden and are higher in women than in men. We aimed to investigate the sex-specific relationship between serum HDL-C levels and the Duke treadmill score (DTS) in this study. Materials and Methods: A total of 111 patients (59 men, 42 women) with suspected coronary artery disease (CAD) who underwent exercise treadmill test (EST) were included. Fasting blood samples were obtained for the assessment of serum lipid levels. DTS was calculated for each patient based on EST findings including ST segment deviation and symptoms. Results: Patients were categorized into a moderate to high risk group based on the DTS score (group-I: 38 patients) and a low risk group (group-II: 63 patients). There was a significant positive correlation between serum HDL-C levels and DTS (r = 0.230; P=0.021). The mean HDL-C level was significantly higher in group-II relative to group-I (49.25 ±11.21 vs. 44.43 ± 11.18, respectively, P = 0.04). An HDL-C level less than the cut-off value of 41.39 mg/dL predicted a moderate to severe risk DTS with 65% sensitivity and 69% specificity in men (area under curve = 0.732, P = 0.004), but not in women (area under curve = 0.505, P = 0.958). After adjustment for traditional CAD risk factors (age, sex, and smoking status), the relationship of DTS to HDL-C remained significant. (P = 0.030; adjusted OR = 0.948 [95% CI, 0.904-0.995]). Conclusion: Low HDL-C levels may be associated with a moderate to high risk Duke treadmill score in men, but not in women. Further research is required to clarify the sex-specific relationship between HDL-C and DTS. [ABSTRACT FROM AUTHOR]

The article characterizes late onset of neuromyelitis optica (LONMO) and late onset of neuromyelitis optica spectrum disease (LONMOSD) and examines their predictive factors of disability and death. Both LONMO and LONMOSD are defined by an optic neuritis/longitudinally extensive transverse myelitis with aquaporin-4 antibodies (AQP4-Ab).

Background and purpose Neuromyelitis optica ( NMO) is a severe demyelinating inflammatory disorder associated with serum antibodies against aquaporin 4 ( AQP4-Ab). A significant number of patients with NMO remain seronegative over time. Long-term observational magnetic resonance imaging ( MRI) studies of the CNS in patients with NMO are rare or of limited duration. The objective of this study is to determine long-term MRI characteristics of seropositive and seronegative patients, and assess possible overlap with multiple sclerosis ( MS). Methods Clinical and radiological characteristics of 28 patients with NMO at onset and of 17 patients after an average follow-up time of 9 years were recorded. Fifty percent of patients were seropositive for AQP4-Ab. Onset and final brain/spinal MRI scans were retrospectively analysed and compared. Results Significantly more patients in the seronegative group had brain lesions at onset. Spinal lesions of seropositive patients were longer and showed increased cord swelling at onset MRI scans. After the follow-up time the differences between both groups disappeared. Patients in the seropositive group tended to develop brain lesions over time. No patient fulfilled Barkhof's or McDonald's radiological criteria for MS at onset or over time. Conclusion Brain MRI features show differences between seropositive and seronegative patients at time of onset in NMO, but differences between groups vanish over time. None of the AQP4-negative patients fulfill radiological MS criteria on a long-term basis, suggesting that seronegative NMO constitutes an independent entity. [ABSTRACT FROM AUTHOR]

The article presents a study which aims to report 10 cases of Caucasian patients with myasthenia gravis (MG) and neuromyelitis optica (NMO). The study is a restrospective research which analyzes NMO diagnosed among patients based on the 2006 revised diagnostic criteria. Results of the study show autoimmune disorders or autoimmune antibodies that co-exist in 17 patients out of 26 patients sampled.