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[en] The common variants in the fat mass- and obesity-associated (FTO) gene have been previously found to be associated with obesity in various adult populations. The objective of the present study was to investigate whether the single nucleotide polymorphisms (SNPs) and linkage disequilibrium (LD) blocks in various regions of the FTO gene are associated with predisposition to obesity in Malaysian Malays. Thirty-one FTO SNPs were genotyped in 587 (158 obese and 429 non-obese) Malaysian Malay subjects. Obesity traits and lipid profiles were measured and single-marker association testing, LD testing, and haplotype association analysis were performed. LD analysis of the FTO SNPs revealed the presence of 57 regions with complete LD (D' = 1.0). In addition, we detected the association of rs17817288 with low-density lipoprotein cholesterol. The FTO gene may therefore be involved in lipid metabolism in Malaysian Malays. Two haplotype blocks were present in this region of the FTO gene, but no particular haplotype was found to be significantly associated with an increased risk of obesity in Malaysian Malays
[en] The prevalence of type 2 diabetes is on the increase. Among the other factors, obesity is considered to be a major contributor in the occurrence of type 2 diabetes by disturbing the metabolic regulators of the body. These regulators are certain hormones and peptides produced in the adipocytes and control the intermediary metabolism of the body. These regulators regulate the lipid load up to a certain level and beyond that complication arises. Diabetes mellitus is one of the complications among others. This article reviews the roles and mechanisms of action of these regulators under the influence of lipid load and discusses the factors affecting the rehabilitation of the regulators.
[en] Previous authors have described a specific syndrome of coeliac disease, bilateral cerebral calcifications and epileptic seizures. We report a 4-year-old boy with coeliac disease who had bilateral calcifications in the basal ganglia and frontal and parietal lobes, but did not exhibit epileptic seizures. (orig.)
[en] The association between metabolism and cancer has been recently emphasized. This study aimed to find the prognostic significance of obesity in advanced stage rectal cancer patients treated with surgery and radiotherapy (RT). We retrospectively reviewed the medical records of 111 patients who were treated with combined surgery and RT for clinical stage 2–3 (T3 or N+) rectal cancer between 2008 and 2014. The prognostic significance of obesity (body mass index [BMI] ≥25 kg/m"2) in local control was evaluated. The median follow-up was 31.2 months (range, 4.1 to 85.7 months). Twenty-five patients (22.5%) were classified as obese. Treatment failure occurred in 33 patients (29.7%), including local failures in 13 patients (11.7%), regional lymph node failures in 5, and distant metastases in 24. The 3-year local control, recurrence-free survival, and overall survival rates were 88.7%, 73.6%, and 87.7%, respectively. Obesity (n = 25) significantly reduced the local control rate (p = 0.045; 3-year local control, 76.2%), especially in women (n = 37, p = 0.021). Segregation of local control was best achieved by BMI of 25.6 kg/m"2 as a cutoff value. Obese rectal cancer patients showed poor local control after combined surgery and RT. More effective local treatment strategies for obese patients are warranted
[en] Kinky hair syndrome is a sex-linked recessively inherited copper metabolic disorder with severe neuro degenerative change and infant death. In 1962, Menges and associates described five boys of a related pedigree with severe psychomotor retardation, seizures and widespread cerebral and cerebellar degeneration. In 1969, Weissenberg and associates specified the radiological characterization of the syndrome. Symmetrical metaphyseal spurring and diaphyseal periosteal reaction of the long bones, anterior rib flaring, a malformed cerebral arterial system and subdural effusion. In 1972, Danks and associates found the disease to be associated with a defect of copper metabolism, confirmed by studies with labelled Cu. Authors experienced a case with characteristic clinical picture, and report cerebral and abdominal arteriographic changes and plain radiographic findings with brain CT, DSA and post-mortem angiography.
[en] Right ventricular (RV) apical pacing induces dyssynchrony by a left bundle branch block type electrical activation sequence in the heart and may impair left ventricular (LV) function. Whether these functional changes are accompanied by changes in myocardial perfusion, oxidative metabolism and efficiency, and the relation with the induction of LV dyssynchrony are unknown. Our study was designed to investigate the acute effects of RV pacing on these parameters. Ten patients with normal LV ejection fraction and VVI/DDD pacemaker were studied during AAI pacing/sinus rhythm without RV pacing (pacing-OFF) and with RV pacing (pacing-ON) at the same heart rate. Dynamic [15O]water and [11C]acetate positron emission tomography was used to measure perfusion and oxidative metabolism (kmono) of the LV. An echocardiographic examination was used to assess LV stroke volume (SV) and LV dyssynchrony. Myocardial efficiency of forward work was calculated as systolic blood pressure x cardiac output/LV mass/kmono. RV pacing decreased SV in all subjects (mean decrease 13%, from 76 ± 7 to 66 ± 7 ml, p = 0.004), but global perfusion and kmono were unchanged. The efficiency tended to be lower with pacing-ON (70 ± 20 vs 81 ± 21 mmHg l/g, p = 0.066). In patients with dyssynchrony during pacing (n = 6) efficiency decreased by 23% (from 78 ± 25 to 60 ± 14 mmHg l/g, p = 0.02), but in patients without dyssynchrony no change in efficiency was detected. Accordingly, heterogeneity in myocardial perfusion and oxidative metabolism was detected during pacing in patients with dyssynchrony but not in those without dyssynchrony. RV pacing resulted in a significant decrease in SV. However, deleterious effects on LV oxidative metabolism and efficiency were observed only in patients with dyssynchrony during RV pacing. (orig.)
[en] Gender differences in personality are considered to have biological bases. In an attempt to understand the gender differences of personality on neurobiological bases, we conducted correlation analyses between regional brain glucose metabolism and temperament factors of personality in males and females. Thirty-six healthy right-handed volunteers (18 males, 33.8 ± 17.6 y;18 females, 36.2 ± 20.4 y) underwent FDG PET at resting state. Three temperament factors of personality (novelty seeking (NS), harm avoidance (HA), reward dependence (RD)) were assessed using Cloninger's 240-item Temperament and Character Inventory (TCI) within 10 days of FDG PET scan. Correlation between regional glucose metabolism and each temperament factor was tested using SPM2. In males, a significant negative correlation between NS score and glucose metabolism was observed in the bilateral superior temporal gyri, the hippocampus and the insula, while it was found in the bilateral middle frontal gyri, the right superior temporal gyrus and the left cingulate cortex and the putamen in females. A positive HA correlation was found in the right midbrain and the left cingulate gyrus in males, but in the bilateral basal ganglia in females. A negative RD correlation was observed in the right middle frontal and the left middle temporal gyri in males, while the correlation was found in the bilateral middle frontal gyri and the right basal ganglia and the superior temporal gyrus in females. These data demonstrate different cortical and subcortical metabolic correlates of temperament factors of personality between males and females. These results may help understand biological substrate of gender differences in personality and susceptibility to neuropsychiatric illnesses
[en] The purpose of this study was to investigate the influence of metabolic syndrome (MS) on the lower urinary tract symptoms (LUTS), prostate specific antigen (PSA), and prostate volume in Korean men. We analyzed the data from 2654 men over the age of 40 who visited our health promotion center for regular health checkups. Of the total 2654 men, mean age, PSA level, International Prostate Symptom Score (IPSS), and prostate volume were 54.6 years, 1.21ng/ml, 6.2 points, and 27.8ml, respectively. All examinees were divided into MS group (46.5%, 1235 men) and non-MS group (53.5%, 1419). Age and prostate volume were significantly higher in the MS group. The patients were divided into three groups according to their ages: 40’s, 50’s, and over 60 years old. Prostate volume of the MS group in the younger age groups (40-49 years and 50-59 years) was significantly larger than that of the non-MS group. However, no difference was revealed in the age group of 60-69 years. No significant differences were found in the PSA level and LUTS between the MS and non-MS groups. In the multivariate regression analysis, central obesity was the strongest risk factor for the enlargement of prostate over 30ml among the metabolic components
[en] Introduction: Due to its involvement in a variety of pathologies (obesity, diabetes, gut inflammation and depression), the melanin concentrating hormone receptor 1 (MCHR1) is a new target for the treatment of these lifestyle diseases. We previously presented the radiosynthesis of [11C]SNAP-7941, the first potential PET tracer for the MCHR1. Methods: We herein present its in vitro and in vivo evaluation, including binding affinity, plasma stability, stability against liver mircrosomes and carboxylesterase, lipohilicity, biodistribution, in vivo metabolism and small-animal PET. Results: [11C]SNAP-7941 evinced high stability against liver microsomes, carboxylesterase and in human plasma. The first small-animal PET experiments revealed a 5 fold increased brain uptake after Pgp/BCRP inhibition. Therefore, it can be assumed that [11C]SNAP-7941 is a Pgp/BCRP substrate. No metabolites were found in brain. Conclusion: On the basis of these experiments with healthy rats, the suitability of [11C]SNAP-7941 for the visualisation of central and peripheral MCHR1 remains speculative