The hormone sensitive lipase gene in familial combined hyperlipidemia and insulin resistance

Backround Insulin resistance in the most common familial dyslipidemia, familial combined hyperlipidemia (FCHL), could be due to variations in the hormone sensitive lipase (HSL) gene.
Materials and methods The coding region of the HSL gene was screened with the single strand conformation polymorphism analysis in probands of 27 FCHL families with 228 members. In addition, the C-60G promoter substitution of the HSL gene was determined by the restriction fragment length polymorphism analysis in these subjects.
Results No variants in the coding region of the HSL gene were found and the allele frequencies of the C-60G promoter substitution and the silent variant (G3138A) in the 3' untranslated region did not differ between 110 control subjects and 27 probands with FCHL. However, in control women the C-60G substitution was associated with high body mass index [30·6 ± 0·9 kg m⁻² (mean ± SD) in subjects with the C/G genotype and 24·8 ± 4·6 in subjects with the C/C genotype, P  = 0·012], and in control men with high rates of insulin-stimulated whole body glucose uptake (70·1 ± 14·7 vs. 56·7 ± 14·2 µmol kg⁻¹ min⁻¹, P  = 0·014). In 228 FCHL family members this substitution was associated with high low-density lipoprotein cholesterol levels in men (4·51 ± 1·12 vs. 5·17 ± 1·28 mmol L⁻¹, P  = 0·049), but not in women.
Conclusions The HSL gene is not a major gene for FCHL. However, the − 60G allele of this gene may affect body weight, insulin sensitivity and serum cholesterol levels.     

Inter-individual variability of plasma PAF-acetylhydrolase activity in ARDS patients and PAFAH genotype

Background:  Platelet activating factor (PAF), a pro-inflammatory phospholipid, stimulates cytokine secretion from polymorphonuclear leukocytes expressing the transmembrane G-protein coupled PAF receptor. Elevated PAF levels are associated with acute respiratory distress syndrome (ARDS) and sepsis severity. The pro-inflammatory effects of PAF are terminated by PAF acetylhydrolase (PAF-AH).
Objective:  We sought to determine whether allelic variants in the human PAFAH gene (Arg92His, Ile198Thr, and Ala379Val) contribute to variability in PAF-AH activity in patient plasma obtained within 72 h of ARDS diagnosis.
Results:  Plasma PAF-AH activity (mean ± SD) was higher in patients homozygous for the Arg92 allele compared to His92 allele carriers (2·21 ± 0·77 vs. 1·64 ± 0·68 U/min; P  < 0·01; n  = 31 and 21 respectively). Baseline plasma PAF-AH activity was higher among day 7 survivors vs. day 7 non-survivors (2·05 ± 0·75 vs. 1·27 ± 0·63, P  = 0·05).
Conclusion:  These data demonstrate an association between PAF-AH allelic variation, plasma activity, and outcome in ARDS.     

Chronic erythropoietin treatment affects different molecular pathways of diabetic cardiomyopathy in mouse

Background  Recent studies in mice experimental models with acute ischaemic injury revealed that erythropoietin (EPO) has numerous tissue-protective effects in the heart, brain and kidneys. We therefore explored the tissue-protective properties of chronic EPO treatment in an experimental model of the db/db mouse with diabetic heart injury.
Material and methods  We randomly treated 11 db/db mice with placebo (saline), 0·4 μg of the continuous erythropoietin receptor activator (CERA) per week ( n  = 11) or 1·2 μg CERA per week ( n  = 11) for 14 weeks, and analysed cardiac tissue. The lower CERA dose was a non-haematologically effective dose, whereas the second increased the haematocrit.
Results  Compared with mice in the placebo group, CERA-treated mice had a reduction in TGF-β₁ and collagen I expression in cardiac tissue ( P  < 0·01 vs. higher dose CERA). In addition, an increased expression of the pro-survival intracellular pathway p-AKT was observed ( P  < 0·05 vs. higher dose CERA). The values for the lower C.E.R.A had an intermediate nonsignificant effect. Furthermore, we were able to show that atrial natriuretic peptide (ANP) expression was increased in both CERA groups.
Conclusions  Chronic treatment with CERA protects cardiac tissue in diabetic animals, i.e. it inhibits molecular pathways of cardiac fibrosis, and the effects are dose-dependent.     

High plasma levels of the soluble receptor for advanced glycation endproducts in patients with symptomatic carotid atherosclerosis

Background  Advanced glycation endproducts (AGEs), particularly carboxymethyl(lysine)-adducts (CML), exert part of their cellular effects by binding to a receptor, named receptor for AGEs (RAGE). The soluble form of this receptor (sRAGE) has been shown to have an athero-protective role. We hypothesized the existence of a relationship between the AGE–RAGE axis and the occurrence of symptoms related to carotid atherosclerosis in nondiabetic conditions.
Materials and methods  We evaluated plasma levels of CML and sRAGE (by ELISA), and tissue levels (tAGEs and tRAGE, semiquantitatively, by immunohistochemistry) in endarterectomy carotid plaque tissue in 29 nondiabetic patients. At the time of surgery, 10 patients were asymptomatic and 19 were symptomatic.
Results  Plasma levels of sRAGE were higher in symptomatic patients than in asymptomatic patients [median (interquartile range): 676 (394–858) pg mL⁻¹ vs. 347 (284–479) pg mL⁻¹, P  = 0·009]. In symptomatic patients, plasma levels of sRAGE correlated positively with CML ( r  = 0·60, P  < 0·01), C-reactive protein (CRP) ( r  = 0·618, P  < 0·01) and fibrinogen ( r  = 0·522, P <0·005), while in asymptomatic patients, no correlation was observed. Although tissue and plasma levels of AGEs and RAGE did not correlate between each other, tAGEs and tRAGE were also positively correlated only in symptomatic patients (χ² = 8·93, P  = 0·003).
Conclusions  Plasma levels of sRAGE are higher in symptomatic than asymptomatic carotid atherosclerosis. Higher levels of sRAGE in symptomatic patients may be markers of a higher degree of vascular inflammation in such patients.     

Rotating shift-related changes in hormone levels in intensive care unit nurses

Title.  Rotating shift-related changes in hormone levels in intensive care unit nurses.
Aim.  This paper is a report of a study to investigate if an irregular rotating shift system, including night shifts, can cause changes to the secretion of hormones in nurses.
Method.  In 2006, 32 healthy intensive care unit nurses completed the Standard Shiftwork Index (SSI) and blood samples were collected from each participant at the beginning and end of each shift. Change in hormone levels between the beginning and end of morning shifts were examined and compared between nurses on morning only and rotating shifts. Correlations between change in hormone concentrations and scores from the SSI are presented.
Results.  The mean reduction of cortisol level between the two measurements was statistically significantly greater for the 'rotating' than 'morning' shift group ( P  = 0·032). There were no statistically significant differences between the two groups in overall mean change from the first to the second measurement of prolactin, triiodothyronine and thyroid-stimulating hormone. Levels of thyroxine increased statistically significantly in the 'rotating' group ( P  = 0·049) but not in the 'morning' group. The morningness scale score was greater for the 'rotating' group, while greater job satisfaction levels were found in the 'morning' group. Statistically significant correlations were found between thyroid-stimulating hormone, triiodothyronine, thyroxine and prolactin changes and specific scales of the SSI questionnaire.
Conclusion.  Ergonomic shift schedules sympathetic to the body clock and nurses' preferences should be adopted to mitigate the adverse effects on health.     

Estimated liver weight is directly related to hepatic very low-density lipoprotein-triglyceride secretion rate in men

Background  Animal studies suggest that liver weight is directly related to hepatic very low-density lipoprotein–triglyceride (VLDL-TG) secretion, independently of body size. This relationship has never been examined in humans.
Materials and methods  We measured VLDL-TG secretion rate by using stable isotope-labelled tracers in 21 healthy, non-obese men (age: 25 ± 3 years; body mass index: 24·8 ± 1·6 kg m⁻²), and evaluated the relationship between VLDL-TG secretion and indices of total and regional adiposity (body mass index, total body fat, trunk fat), metabolic parameters (free fatty acid, glucose, and insulin concentrations, homeostasis model assessment index of insulin resistance, resting energy expenditure), and estimated liver weight.
Results  Correlation analysis showed that estimated liver weight was positively associated with total VLDL-TG secretion rate ( r  = 0·722, P  < 0·001), VLDL-TG secretion rate per liter of plasma ( r  = 0·562, P  = 0·008), VLDL-TG secretion rate per kilogram of body weight ( r  = 0·555, P  = 0·009), and VLDL-TG secretion rate per kilogram of liver weight ( r  = 0·620, P  = 0·003). In multiple regression analysis, estimated liver weight was the only significant predictor of VLDL-TG secretion rate regardless of units of expression, explaining 31–52% of total variance; none of the metabolic parameters and indices of body fatness entered the regression models.
Conclusions  We conclude that estimated liver weight is directly related to hepatic VLDL-TG secretion rate in healthy non-obese men; this relationship is likely not mediated by interindividual variation in body size.     

Interleukin-18 levels are associated with low-density lipoproteins size

Introduction  Both low-density lipoproteins (LDL) size and serum interleukin (IL)-18 levels have been shown to be predictors of cardiovascular morbidity and mortality. However, it is still unknown whether IL-18 levels are independently associated with LDL size.
Methods  In this cross-sectional study including 53 premenopausal women (18–45 years), LDL size (by gradient gel electrophoresis), serum IL-18, high-sensitivity C-reactive protein (hs-CRP), serum lipids, insulin sensitivity (S_I, by frequently sampled intravenous glucose tolerance test) were measured.
Results  LDL size correlated with IL-18 ( r  = −0·38, P  = 0·006), hs-CRP ( r  = −0·40, P  = 0·003), S_I ( r  = 0·36, P  = 0·011), serum triglycerides ( r  = −0·32, P  = 0·018) and high-density lipoproteins (HDL)-cholesterol ( r  = 0·40, P  = 0·003). When these variables were entered into a regression model, serum IL-18 (β = −0·26, P  = 0·04), triglycerides (β = −0·29, P  = 0·02) and HDL-cholesterol (β = 0·34, P  = 0·01) levels were independently associated with LDL size, accounting for 42% of the variance ( P  < 0·001). Serum hs-CRP levels and S_I were not significant independent predictors of LDL size in this model.
Conclusions  This is the first report showing that elevated IL-18 levels are associated with reduced LDL size, independent of other inflammatory and metabolic risk factors. Future prospective studies are needed to evaluate the predictive role of IL-18 as an inflammatory marker of LDL size and the development of subclinical and/or clinical atherosclerosis.     

Home orthostatic training in chronic fatigue syndrome – a randomized, placebo-controlled feasibility study

Background  Orthostatic (Tilt)-training is an effective treatment for neurally mediated hypotension (NMH). NMH is a frequent finding in chronic fatigue syndrome (CFS). We evaluated home orthostatic training (HOT) in CFS in a randomized placebo-controlled feasibility study.
Methods  Thirty-eight patients with CFS (Fukuda Criteria) were randomly allocated to daily tilt training ( n  = 19) or sham training ( n  = 19) for 6 months. Haemodynamic responses to standing were performed in all subjects using continuous technology (Taskforce) at enrolment, week 1, 4 and 24. Symptom response and compliance were assessed using diaries.
Results  Two patients (one from each arm) withdrew from the study. Fourteen patients in each group complied completely or partially, and patients found the training manageable and achievable. Compared to the sham group, blood pressure while standing dropped to 8·0 mmHg less in the HOT group at 4 weeks (95% CI: 1·0 to 15·0, P  = 0·03). At 4 weeks, the HOT group had higher total peripheral resistance compared to the sham group; mean difference 70·2, 95% CI: −371·4 to 511·8. Changes were maintained at 6 months. There was no significant difference in fatigue between groups at 4 weeks (mean difference 1·4, 95% CI: −13·5 to 16·2), but there was a trend towards improvement in fatigue at 6 months. Compliers had lower fatigue compared to non-compliers.
Conclusions  A placebo-controlled study of HOT in CFS is feasible. HOT is well tolerated and generally complied with. A likely physiological rationale for HOT in CFS is related to reductions in orthostatic intolerance. An adequately powered study including strategies to enhance compliance is warranted.     

Outcome after device implantation in chronic heart failure is dependent on concomitant medical treatment

Background  Device implantation in chronic heart failure (CHF) for cardiac resynchronization therapy (CRT) with or without implantable cardioverter/defibrillator (ICD) is an established treatment option for symptomatic patients under medical baseline therapy. Although recommended, the need for optimization of medical therapy was never proven. As in 'the real world', medical therapy is not always up-titrated to the desirable dosages; this provides the opportunity to evaluate the impact of optimizing medical therapy in patients who had received a device therapy with proven effectiveness.
Materials and methods  This observational cohort study retrospectively assessed the 'real life'-effect of CRT compared with that of CRT/ICD therapy and the impact of concomitant pharmacotherapy on outcome. Outcome of patients with guideline recommended renin–angiotensin system inhibitor and ß-blocker dosages was compared with that of patients who failed to reach the desired dosages. Mean follow-up for the 205 CHF (95 CRT and 110 CRT/ICD) patients was 16·8 ± 12·4 months.
Results  In the total study cohort, 83 (41%) reached the combined primary endpoint of all-cause death or cardiac hospitalization [CRT group: 25 (26%), CRT/ICD group: 58 (52·7%), P  < 0·001]. Multiple cox regression analysis revealed non-optimized medical therapy at follow-up [HR = 2·080 (1·166–3·710), P  = 0·013] and CRT/ICD vs. CRT [HR = 2·504 (1·550–4·045), P  < 0·001] as significant predictors of the primary endpoint.
Conclusion  Our data stress the importance of professional monitoring and titration of pharmacotherapy not only in medically treated CHF patients but also in patients under device therapy by a heart failure unit or a specialized cardiologist.     

Anti-oxidized LDL antibody levels are reduced in women with hypertension

Background  Previous studies have suggested that hypertension may be associated with increased oxidized low-density lipoprotein (LDL). Increased in vitro oxidizability of LDL or elevated titers of anti-oxidized LDL antibodies have been shown in subjects with essential hypertension. However, the relationship between oxidized LDL and hypertension is equivocal. We examined the association between hypertension and levels of IgG anti-oxidized LDL antibodies in a group of women from the general population.
Materials and methods  The study included 619 women classified according to their blood pressure values. IgG anti-oxidized LDL antibodies were measured by enzyme-linked immunosorbent assay and the women were classified as being above or below the 50th percentile.
Results  Hypertension was present in 54·3% of the women. These women had significantly lower levels of IgG anti-oxidized LDL antibodies than the normotensive women (0·280 ± 0·117 vs. 0·336 ± 0·125, P  <   0·001). Both systolic and the diastolic blood pressures showed a significant negative correlation with the levels of IgG anti-oxidized LDL antibodies ( r  = −0·204, P  <   0·001; r  = −0·225, P  <   0·001, respectively). Women with IgG anti-oxidized LDL antibody levels above the 50th percentile had a lower prevalence of hypertension than those with IgG anti-oxidized LDL antibody levels below the 50th percentile (40·2% vs. 59·8%) ( P  <   0·001).
Conclusions  Women with hypertension had lower levels of IgG anti-oxidized LDL antibodies than normotensive women.     

Clinical relevance of measuring colonic permeability

Background  Gastroduodenal and small intestinal permeability are increased in patients with Crohn's disease (CD) and intensive care patients. The relevance of colonic permeability has not yet been adequately investigated. The aim of this study was to investigate the clinical value of sucralose excretion as indicator for colonic permeability in these patient groups.
Design  After oral administration of four sugars and subsequent analysis of urinary excretion, gastroduodenal and intestinal permeability were calculated from saccharose excretion and lactulose/mannitol (L/M) ratio over 5 h, and sucralose excretion from 5 to 26 h in 100 healthy controls, 29 CD and 35 patients after coronary surgery (CABG).
Results  In controls, sucralose excretion was highly variable (0·67 ± 0·92%) and not related to small intestinal permeability. In CD and CABG, L/M ratio was increased (0·054 ± 0·060; 0·323 ± 0·253 vs. 0·018 ± 0·001 in controls). Sucralose excretion was increased in 77% of CABG but only in 7% of CD. There was an association between gastroduodenal and intestinal permeability in CD and CABG ( r  = 0·72, and r  = 0·51), but sucralose excretion was not related to either one of these two parameters. Other than a weak association between sucralose and length of stay in intensive care in CABG patients ( P  = 0·099), sucralose excretion was not related to clinical outcome.
Conclusions  The proposed cut-off for normal sucralose excretion is 2·11%, but its high variability and lack of association to gastrointestinal permeability or clinical outcome leave it open, if it can provide information beyond established permeability tests.     

Association between self-report pain ratings of child and parent, child and nurse and parent and nurse dyads: meta-analysis

Title.  Association between self-report pain ratings of child and parent, child and nurse and parent and nurse dyads: meta-analysis.
Aim.  This paper is a report of a meta-analysis to investigate the association between self-report pain ratings for the dyads of child and parent, child and nurse and parent and nurse.
Background.  Existing research has shown conflicting results with regard to agreements of self-report pain ratings between the three dyads.
Data sources.  The CINAHL, Medline, Ovid and PsycINFO databases were searched using keyword, such as 'children/adolescents', 'parents/nurses', 'pain assessment', 'pain ratings', 'association' and 'agreement'. Studies published in English in or after 1990 were included.
Methods.  Meta-analysis methodology was applied to 12 pain assessment studies published between 1990 and 2007 which met the inclusion criteria. In the 12 studies a common effect size was estimated using the Pearson's correlation coefficient. Therefore, a fixed-effects model was chosen for this meta-analysis.
Results.  We found moderate summary effect sizes between self-reported pain ratings for the dyad of child and parent ( r  = 0·64) and the child and nurse dyad ( r  = 0·58) and a weak summary effect size of r  = 0·49 for the dyad of parent and nurse. The summarized effect sizes for each of the three dyads varied across the studies. A test of homogeneity ( Q -statistic) indicated that all effect size estimates were not homogeneous.
Conclusion.  Parents' and nurses' perceptions of children's pain should only be considered as estimates rather than expressions of the pain experienced, and not the same as children's self-reports. There is a need for education on selection of appropriate pain assessment scales in relation to the age and development of the child.     

Supportive counselling programme for nursing students experiencing academic failure: randomized controlled trial

Title.  Supportive counselling programme for nursing students experiencing academic failure: randomized controlled trial.
Aim.  This paper is a report of a study examining the effects of a supportive counselling programme on the academic performance of Iranian nursing students experiencing academic failure.
Background.  In order to using limited educational resources effectively, nursing students experiencing academic failure should be immediately identified in order that appropriate intervention can take place.
Method.  Data were collected over a 12-month period in 2006–2007, with 42 Bachelor of Science nursing students who displayed poor academic performance. They were randomly allocated to receive either supportive or ordinary counselling. The mean grades in basic theoretical courses, special courses, and also the combination of both basic and special courses was compared between the two groups.
Findings.  Over the study period, there were improvements in the mean grades of special courses and also in both basic and special courses of male students in the experimental group, compared with those of male students in the control group (0·27 against −1·43, P  = 0·014; and 1·87 against −0·40, P  = 0·009; respectively).
Conclusion.  A supportive counselling programme can improve the academic performance of male nursing students. Replication of the current study with larger samples and longer duration is recommended.     

Comparison of follitropin-beta administered by a pen device with conventional syringe in an ART programme - a retrospective study

Objectives:  This study compares the efficacy and patient tolerance of follitropin-β (recagon) administered using a pen device with conventional syringe in infertile couples undergoing in vitro fertilization/intracytoplasmic sperm injection treatment.
Methods:  Data for 481 patients were retrieved retrospectively for the analysis. Conventional syringe group constituted 204 patients with 217 cycles and 265 patients with 294 cycles in the pen-device group. Down-regulation was achieved with GnRH agonist.
Results:  Comparison of follitropin-β administered with pen and syringe showed the following data, respectively. A total dose of 1909·38/2100·65 IU ( P  < 0·001), duration of stimulation, 9·70/10·47 days ( P  < 0·05), oestradiol levels on the day of human chorionic gonadotropin, 1488·34/1067·63 pg/ml, number of follicles reaching >16-mm size, 9·75/7·34 ( P  < 0·05), number of oocytes retrieved, 13·84/9·55 ( P  < 0·001) and number of embryos available for freezing, 4·56/1·30 ( P  < 0·05), the above data were observed in pen/conventional syringe groups, respectively. The live birth rates per cycle were 28·85% and 30·95% in the conventional syringe/pen-device groups, respectively. Patient tolerance with respect to pain at injection site was better with the pen device ( P  < 0·025).
Conclusion:  The data show that follitropin-β administered with pen device is well tolerated and more efficacious with respect to ovarian stimulation outcome compared with the conventional syringe.     

Anti-oxidized low-density lipoprotein antibody levels are associated with the development of type 2 diabetes mellitus

Background  Anti-oxidized low-density lipoprotein (LDL) antibodies are associated with the oxidative capacity of plasma, but whether they protect or promote diabetes is unknown. We undertook a prospective study to determine the predictive capacity of anti-oxidized LDL antibodies for the onset of type 2 diabetes mellitus (T2DM).
Materials and methods  We selected 391 non-diabetic women aged 18–65 years. The subjects were classified as being normal (oral glucose test tolerance normal, OGTT-N), or having impaired glucose tolerance (IGT), impaired fasting glucose (IFG) or T2DM according to their baseline glucose levels and after an OGTT. The same subjects were studied six years later. The levels of anti-oxidized LDL antibodies were classified as above or below the 50th percentile.
Results  Of the women who were OGTT-N at the start of the study and who had anti-oxidized LDL antibody levels below the 50th percentile, only 65·1% were still OGTT-N after 6 years versus 79·5% of those who had anti-oxidized LDL antibody levels above the 50th percentile ( P  = 0·015). Women who had IGT or IFG at the start of the study whose anti-oxidized LDL antibody levels were below the 50th percentile had a relative risk of 9·79 (95% confidence interval, 1·40–68·45) of developing diabetes ( P  < 0·001). Logistic regression analysis showed that the variables predicting the development of a carbohydrate metabolism disorder in the women after 6 years were body mass index ( P  < 0·001) and the levels of anti-oxidized LDL antibodies ( P  = 0·042).
Conclusions  Levels of anti-oxidized LDL antibodies are independent predictors for the development of T2DM in women.     

Improvement of fractional flow reserve and collateral flow by treatment with external counterpulsation (Art.Net.-2 Trial)

Background  Arteriogenesis (collateral artery growth) is nature's most efficient rescue mechanism to overcome the fatal consequences of arterial occlusion or stenosis. The goal of this trial was to investigate the effect of external counterpulsation (ECP) on coronary collateral artery growth.
Materials and methods  A total of 23 patients (age 61 ± 2·5 years) with stable coronary artery disease and at least one haemodynamic significant stenosis eligible for percutaneous coronary intervention were prospectively recruited into the two study groups in a 2 : 1 manner (ECP : control). One group (ECP group, n  = 16) underwent 35 1-h sessions of ECP in 7 weeks. In the control group ( n  = 7), the natural course of collateral circulation over 7 weeks was evaluated. All patients underwent a cardiac catheterization at baseline and after 7 weeks, with invasive measurements of the pressure-derived collateral flow index (CFIp, primary endpoint) and fractional flow reserve (FFR).
Results  In the ECP group, the CFIp (from 0·08 ± 0·01 to 0·15 ± 0·02; P  < 0·001) and FFR (from 0·68 ± 0·03 to 0·79 ± 0·03; P  = 0·001) improved significantly, while in the control group no change was observed. Only the ECP group showed a reduction of the Canadian Cardiovascular Society (CCS, P  = 0·008) and New York Heart Association (NYHA, P  < 0·001) classification.
Conclusion  In this study, we provide direct functional evidence for the stimulation of coronary arteriogenesis via ECP in patients with stable coronary artery disease. These data might open a novel noninvasive and preventive treatment avenue for patients with non-acute vascular stenotic disease.     

Gene expression signature of chronic lymphocytic leukaemia with Trisomy 12

Background  The prognosis of chronic lymphocytic leukaemia (CLL) patients is largely determined by the karyotype of the malignant clone. We have investigated the gene expression profile associated with trisomy 12 (+12).
Design  Initially, unselected peripheral blood mononuclear cells of four patients with +12 were compared with 16 CLL controls using microarray analysis. Results were validated by quantitative real-time PCR with RNA from 61 patients (29 with +12, 32 CLL controls).
Results  Seven genes showing the strongest correlation with +12 in microarray analysis were selected for real-time PCR: HIP1R , MYF6 , SLC2A6 , CD9 (overexpressed); CD200 , P2RY14 , RASGRP3 (underexpressed). Four genes were significantly associated with +12: HIP1R ( P  < 0·0001), MYF6 ( P  = 0·007), P2RY14 ( P  = 0·014), CD200 ( P  = 0·028). Receiver Operating Characteristic curve analysis revealed that HIP1R expression was a highly sensitive and specific marker for +12 in CLL patients. MYF6 was exclusively expressed in normal or malignant B cells in peripheral blood but was poorly predictive for +12. As expected, a number of overexpressed genes are located on chromosome 12 ( HIP1R , MYF6 ). Interestingly, both significantly underexpressed genes ( P2RY14 , CD200 ) reside on the long arm of chromosome 3 pointing to trans-repression in this region.
Conclusions  Analysis of the molecular signature of trisomy 12 in CLL resulted in: (i) identification of a surrogate marker for PCR ( HIP1R ); (ii) observation of a gene dosage effect; and (iii) detection of specific underexpression of genes located on chromosome 3. These results should help to improve diagnosis and treatment decisions for patients with CLL and trisomy 12.     

Prevalence of metabolic syndrome and its relationship with leisure time physical activity among Peruvian adults

Background  Metabolic syndrome (MetS) is an important risk factor of cardiovascular disease (CVD) and type 2 diabetes. Previous studies have suggested an inverse relationship between physical activity and MetS. However, these findings were inconsistent, and few investigators have examined these associations among South Americans. We estimated the prevalence of MetS and its association with leisure time physical activity (LTPA) among Peruvian adults.
Materials and methods  This cross-sectional study of 1675 individuals (619 men and 1056 women) was conducted among residents in Lima and Callao, Peru. Information about LTPA, socio-demographical and other lifestyle characteristics was collected by interview. The presence of MetS was defined using the Adult Treatment Panel III criteria.
Results  Overall, the prevalence of MetS was 26·9% and was more common among women (29·9%) than men (21·6%). Habitual participation in LTPA was associated with a 23% reduced risk of MetS (OR = 0·77; 95% CI: 0·60–1·03). There was an inverse trend of MetS risk with amount of LTPA ( P  = 0·016). Compared with non-exercisers, those who exercised <150 min/week had a 21% reduced risk of MetS (AOR = 0·79; 95% CI 0·60–1·04). Individuals who exercised ≥150 min/week, compared with non-exercisers, had a 42% reduced risk of MetS (AOR = 0·58; 95% CI: 0·36–0·93). Associations of similar magnitudes were observed when men and women were studied separately.
Conclusion  These data document a high prevalence of MetS and suggest an association with LTPA among urban dwelling Peruvians. Further prospective studies are needed to confirm these observations and to examine interventions that may promote increased physical activity in this population.