Influence of metabolic syndrome and its components on subclinical organ damage in hypertensive perimenopausal women

PurposeWe investigated the association between metabolic syndrome (MS), its components and the presence of subclinical organ damage in hypertensive perimenopausal women.Patients/methods152 women with newly diagnosed, untreated arterial hypertension (mean age 51.0 ± 3.5 years) were included in the study. In all subjects anthropometrical measurements, 24-hr blood pressure monitoring, echocardiographic examination, and carotid ultrasound were performed. Carotid-femoral pulse wave velocity (PWV) was measured to obtain data on vascular compliance. As the index of early kidney damage both glomerular filtration rate was calculated and albumin/creatinine ratio in the urine sample was measured. A fasting blood sample was taken to measure glucose and lipid concentration.ResultsMS was found in 41% of patients. Patients with MS exhibited elevated left ventricular mass index (LVMI 84.7 vs. 78.8 g/m^2.7, p = 0.03), higher intima-media thickness (IMT 0.67 vs. 0.62 mm, p = 0.003), greater prevalence of LV hypertrophy (30% vs. 13%, p = 0.01), and carotid plaques (24% vs. 15%, p = 0.01). The multivariate regression analysis revealed that components of MS (systolic blood pressure and waist circumference) are stronger predictors of LVM than MS itself. The relationship between MS and LVMI lost its significance when BMI was included in the model, and remained significant for IMT.ConclusionIn hypertensive perimenopausal women components of MS are stronger predictors of subclinical organ damage than MS itself. Left ventricular mass and hypertrophy are more strongly correlated with increasing body weight than with the presence of MS. MS, independently of BMI, influences the level of subclinical atherosclerosis in the study group.     

Evaluation of a standardized patient education program for inpatient asthma rehabilitation: Impact on patient-reported health outcomes up to one year

ObjectivesTo modify and evaluate a patient education program for adult asthma patients in consideration of quality criteria for teaching.MethodsThis was a prospective single-center controlled trial in an inpatient rehabilitation center. The control group (n = 215) received the usual lecture-based education program, and the intervention group (n = 209) the modified patient education program. Data were assessed at admission, discharge, 6 and 12 months post discharge. The primary outcome was asthma control, the secondary outcomes were asthma knowledge, quality of life, and program acceptance. Analysis of change was performed by ANCOVA for each follow-up, adjusting for baseline values.ResultsStatistically significant increases in all health outcomes and in asthma control were maintained in both groups at 12 months: CG: +1.9 (95%-CI 1.3–2.6) IG: +1.6 (95%-CI 0.8–2.3). We observed no significant differences between the programs for asthma control and quality of life. Regarding practical asthma knowledge, after 12 months, a group*time interaction emerged with a small effect size (P = 0.06, η2 = 0.01).ConclusionThe modified program was not superior to traditional patient education concerning asthma control. It permanently increased self-management knowledge.Practical implicationsStructured and behavioral patient education fosters patient’s disease management ability. Possible ways of improving asthma control need to be explored.     

Circulating osteoprotegerin and asymptomatic carotid atherosclerosis in postmenopausal non diabetic women

PurposeOsteoprotegerin (OPG) is a bone metabolism regulator but it is also involved in vascular calcification. Its role in the development of atherosclerosis is still a subject of debate. Postmenopausal women seem to have an increased risk for cardiovascular disease. The aim of the study is to evaluate the relationship between serum OPG and asymptomatic carotid atherosclerosis in postmenopausal non-diabetic women.Material/methodsCarotid artery examination was performed in 100 postmenopausal women without diabetes mellitus and overt cardiovascular disease, using B-mode ultrasonography to determine the carotid intima-media thickness (CIMT) and the presence of plaques. Serum OPG was measured in all study participants and its relationship with clinical, biochemical and vascular parameters was evaluated.ResultsCIMT correlated with age (r = 0.45, p < 0.001), years since menopause (r = 0.30, p = 0.003), abdominal circumference (r = 0.25, p = 0.01) and OPG (r = 0.23, p = 0.02). Carotid plaques correlated with age (p < 0.001), obesity (p = 0.03), abdominal circumference (p = 0.03) and CIMT (p < 0.001), but not with serum OPG (p = 0.86). In regression analyses the independent predictors for CIMT were age (β = 0.717, p < 0.001), OPG (β = 0.214, p = 0.02), and years since menopause (β = −0.334, p = 0.04) and for the presence of carotid plaques were obesity (p = 0.04, OR = 3.90), CIMT (p < 0.001, OR = 6408.86) and smoking (p = 0.02, OR = 687.93).ConclusionOPG is associated with cardiovascular risk factors, CIMT, but not with the presence of asymptomatic carotid plaques in non diabetic postmenopausal women. OPG may be a marker of cardiovascular risk.     

The Ghana vasectomy initiative: Facilitating client–provider communication on no-scalpel vasectomy

ObjectiveIn 2003–2004 and 2007–2008, an initiative was implemented to improve client and provider knowledge and acceptance of no-scalpel vasectomy (NSV) in Ghana.MethodsAt eight facilities, physicians were trained in NSV and staff received training in the provision of “male-friendly” services. Health promotion activities provided NSV information to prospective clients. Client–provider communication was assessed via a mystery client study (n = 6). Knowledge and acceptance of NSV among potential clients were assessed with baseline and follow-up surveys (each n = 200) in 2003–2004 and three follow-up panel surveys in 2008 (each n = 240).ResultsTrained health staff exhibited improved attitudes and knowledge regarding NSV. Mystery clients reported receiving accurate, nonjudgmental NSV counseling. Awareness of NSV among panel respondents doubled from 31% to 59% in 2003–2004 and remained high (44%) in 2008. The proportion of men who would consider NSV increased from 10% to 19% in 2007–2008. NSV procedures increased three-fold from 2003 (n = 26) to 2004 (n = 83) and 2007 (n = 18) to 2008 (n = 53).ConclusionProvider training in client-centered services, coupled with targeted health promotion, improved client and provider knowledge and acceptance of NSV in an African context.Practice implicationsComplementary, sustained provider training and health promotion are needed to maintain NSV service quality and acceptance.     

Effect of naturally acquired type-specific serum antibodies against human papillomavirus type 16 infection

BackgroundWhile vaccine-induced antibodies are known to confer protection against incident human papillomavirus (HPV) infection, there is inconsistent data regarding the protective effect of naturally acquired anti-HPV antibodies.ObjectivesTo estimate the protective effect of naturally acquired anti-HPV16 serum antibodies against incident anogenital infection with HPV16 in females aged 20–64 years and to assess whether antibodies influence the persistence/clearance of anogenital HPV16 infection.Study design4432 women attending the organized national cervical cancer screening program in Slovenia were initially enrolled. 2199 and 1848 women had valid HPV DNA results obtained using PCR-based assays and HPV antibody serotyping results obtained using pseudovirion-based serological assay, at baseline and at three-year follow-up, respectively.ResultsBaseline HPV16 seroprevalence was 2.4-fold higher among HPV16 DNA-positive women (55.7% vs. 23.2%; p < 0.01). Baseline HPV16 DNA-positive/seronegative women frequently acquired anti-HPV16 antibodies during follow-up (OR = 8.2; 95% CI: 3.8–17.8). Baseline anti-HPV16 antibodies persisted at follow-up, irrespective of baseline HPV16 DNA status (OR = 40.6; 95% CI: 30.3–54.5). Baseline HPV16 DNA-negative/seropositive women were less likely to acquire HPV16 infection at follow-up (unadjusted OR = 0.2; 0.1–0.9). However, the age-adjusted association was non-significant (adjusted OR = 0.3; 0.1–1.2). The tendency for protective effect was stronger among women older than 25 years (OR = 0.2; 0.03–1.8). Baseline anti-HPV16 antibodies were not associated with persistence/clearance of HPV16 infection at follow-up (OR = 0.8; 0.3–1.9).ConclusionsNaturally acquired anti-HPV16 serum antibodies appeared to protect against anogenital HPV16 infection, but this association was at least partially confounded by age. Baseline anti-HPV16 serum antibodies did not influence persistence/clearance of HPV16 infection at follow-up.     

PLA2G2A polymorphisms are associated with metabolic syndrome and type 2 diabetes mellitus. Results from the genetics of atherosclerotic disease Mexican study

The secretory phospholipase A₂ II A (sPLA₂-IIA) encoded by PLA2G2A gene hydrolyzes phospholipids liberating free fatty acids (FFAs) and lysophospholipids. If lipolysis exceeds lipogenesis, the free fatty acids undergo a continuous release into circulation. A sustained excessive increase in this release contributes to metabolic disease. The aim of the present study was to evaluate the role of PLA2G2A gene polymorphisms as susceptibility markers for metabolic syndrome (MetS) and type 2 diabetes mellitus (T2DM) in Mexican population. Three PLA2G2A gene polymorphisms (rs876018, rs3753827 and rs11573156) were genotyped by 5′ exonuclease TaqMan assays in a group of 338 patients with T2DM, 460 individuals with MetS and 366 healthy controls. Under codominant 1 (codom1), dominant (dom) and additive (add) models adjusted by age, gender, body mass index (BMI), smoking habit, and hypertension, the rs876018 T allele was associated with increased risk of MetS [Odds Ratio (OR) = 1.66, P_codom1 = 0.005; OR = 1.67, P_dom = 0.003; OR = 1.49, P_add = 0.005] as compared to controls. On the other hand, under several models adjusted by the same variables, the rs3753827 A (OR = 1.52, P_codom1 = 0.039 and OR = 1.49, P_dom = 0.039) and rs11573156C alleles (OR = 6.46, P_codom1 = 0.013; OR = 6.70, P_codom2 = 0.009; OR = 6.65, P_dom = 0.009) were associated with increased risk of T2DM when compared with controls. In addition, the rs876018 T allele was associated with hypercholesterolemia (P_dom = 0.017, P_add = 0.009) and risk of subclinical atherosclerosis (SA) (P_dom = 0.041) in MetS when compared with controls. Also, this allele was associated with SA in T2DM patients (P_dom = 0.007). The TAG haplotype was significantly associated with increased risk of MetS (OR = 1.54, P = 0.006). Results suggest that PLA2G2A polymorphisms are involved in the risk of developing MetS and T2D and are associated with SA in this group of patients.     

Transformational leadership and depressive symptoms: A prospective study

ObjectiveThe aim of this study was to examine the association between transformational leadership and depressive symptoms in employees working within healthcare.Method447 employees completed a baseline survey and 274 completed a follow-up survey 18 months later. 188 completed both baseline and follow-up survey. Transformational leadership was measured using the Global Transformational Leadership Scale and depression was measured using with the Major Depression Inventory.ResultsTransformational leadership was negatively associated with depressive symptoms at baseline (β = ? 0.31, p < .01, 8% variance) follow-up (β = ? 0.25, p < .01, 3% variance) and prospectively (β = ? 0.21, p < .05, 4% variance).ConclusionManagers with a transformational leadership style may help toward protecting employees from developing major depression.     

A brief dyadic group based psychoeducation program improves relapse rates in recently remitted bipolar disorder: A pilot randomised controlled trial

BackgroundVarious adjunctive psychotherapies assist in decreasing relapse and improving outcomes for people with bipolar disorder (BD). Psychoeducation programs involving patient-only or caregiver-only groups have demonstrated some efficacy. We tested in recently remitted BD if a combined group based psychoeducation program involving patient–companion dyads decreased relapse.Method58 recently remitted BD out-patients were randomised to receive either treatment as usual (TAU, n = 31) or 12 × 90 minute psychoeducation sessions delivered weekly in a group program to the patient and companion (SIMSEP, n = 27). After 12 weeks SIMSEP patients reverted to TAU and all patients were followed until week 60 or relapse. The primary outcome measure was relapse requiring hospital or intensive community intervention.Results45 patients completed the study. 29 patients remained well at week 60 (SIMSEP n = 17, TAU n = 12), whilst 16 had relapsed (SIMSEP n = 3, TAU n = 13). The SIMSEP group were less likely to relapse (Fisher's exact test p = 0.013; OR = 0.16; 95% CI 0.04–0.70) and had an 11 week longer time to relapse compared to the TAU group (chi-square (1) = 8.48, p < 0.01). At study completion SIMSEP compared to TAU patients had lower Young Mania Rating Scale scores (Mann–Whitney U = 255, p < 0.01).LimitationsThe study was limited by a small sample size.ConclusionA brief group psychoeducation program with recently remitted BD patients and their companions resulted in a decreased relapse rate, longer time to relapse, decreased manic symptoms and improved medication adherence suggesting utility in the adjunctive psychotherapeutic treatment of BD.     

One-year outcome of an interactive internet-based physical activity intervention among university students

ObjectiveThe purpose of the present study was to evaluate whether improvement in physical activity of students following a 4-month intervention of a university course was maintained 8 months later.MethodsData on 77 students who responded to our scheduled inquiries completely through 1 year were analyzed. Participants of the intervention group (n = 49) using the internet-based physical activity program exhibited significant increases in energy expenditures measured by IPAQ compared with the no-treatment control group (n = 28) through 1 year.ResultsParticipants who did not engage in regular university sports activities (baseline: 450 ± 351 kcal day⁻¹; post: 587 ± 320 kcal day⁻¹; 8-month follow-up: 580 ± 394 kcal day⁻¹) only exhibited significant increases in energy expenditures compared with those of the control group (baseline: 498 ± 341 kcal day⁻¹; post: 414 ± 242 kcal day⁻¹; 8-month follow-up: 347 ± 275 kcal day⁻¹).ConclusionThese results suggested that an internet-based interactive intervention could become a helpful tool in promoting and maintaining physical activity in the long term.     

Patient knowledge and information-seeking about personalized cancer therapy

BackgroundUnderstanding patients’ knowledge and prior information-seeking regarding personalized cancer therapy (PCT) may inform future patient information systems, consent for molecular testing and PCT protocols. We evaluated breast cancer patients’ knowledge and information-seeking behaviors regarding PCT.MethodsNewly registered female breast cancer patients (n = 100) at a comprehensive cancer center completed a self-administered questionnaire prior to their first clinic visit.ResultsKnowledge regarding cancer genetics and PCT was moderate (mean 8.7 ± 3.8 questions correct out of 16). A minority of patients (27%) indicated that they had sought information regarding PCT. Higher education (p = 0.009) and income levels (p = 0.04) were associated with higher knowledge scores and with seeking PCT information (p = 0.04). Knowledge was not associated with willingness to participate in PCT research.ConclusionEducational background and financial status impact patient knowledge as well as information-seeking behavior. For most patients, clinicians are likely to be patients’ initial source of information about PCT. Understanding patients’ knowledge deficits at presentation may help inform patient education efforts.     

Implementation and outcomes of telephone disclosure of clinical BRCA1/2 test results

ObjectivesWith an increasing demand for genetic services, effective and efficient delivery models for genetic testing are needed.MethodsIn this prospective single-arm communication study, participants received clinical BRCA1/2 results by telephone with a genetic counselor and completed surveys at baseline, after telephone disclosure (TD) and after in-person clinical follow-up.ResultsSixty percent of women agreed to participate; 73% of decliners preferred in-person communication. Anxiety decreased from baseline to post-TD (p = 0.03) and satisfaction increased (p < 0.01). Knowledge did not change significantly from baseline to post-TD, but was higher post-clinical follow-up (p = 0.04). Cancer patients had greater declines in state anxiety and African-American participants reported less increase in satisfaction. 28% of participants did not return for in-person clinical follow-up, particularly those with less formal education, and higher post-disclosure anxiety and depression (p < 0.01).ConclusionsTelephone disclosure of BRCA1/2 test results may not be associated with negative cognitive and affective responses among willing patients, although some subgroups may experience less favorable responses. Some patients do not return for in-person clinical follow-up and longitudinal outcomes are unknown.Practice implicationsFurther evaluation of longitudinal outcomes of telephone disclosure and differences among subgroups can inform how to best incorporate telephone communication into delivery of genetic services.     

Endothelial function,antioxidant status and vascular compliance in newly diagnosed HFE C282Y homozygotes

PurposeThis pilot study was aimed to establish techniques for assessing and observing trends in endothelial function, antioxidant status and vascular compliance in newly diagnosed HFE haemochromatosis during the first year of venesection.Patients/methodsUntreated newly diagnosed HFE haemochromatosis patients were tested for baseline liver function, iron indices, lipid profile, markers of endothelial function, anti-oxidant status and vascular compliance. Following baseline assessment, subjects attended at 6-weeks and at 3, 6, 9 and 12-months for follow-up studies.ResultsTen patients were recruited (M = 8, F = 2, mean age = 51 years). Venesection significantly increased high density lipoproteins at 12-months (1.25 mmol/L vs. 1.37 mmol/L, p = 0.01). However, venesection did not significantly affect lipid hydroperoxides, intracellular and vascular cell adhesion molecules or high sensitivity C-reactive protein (0.57 μmol/L vs. 0.51 μmol/L, p = 0.45, 427.4 ng/ml vs. 307.22 ng/ml, p = 0.54, 517.70 ng/ml vs. 377.50 ng/ml, p = 0.51 and 290.75 μg/dL vs. 224.26 μg/dL, p = 0.25). There was also no significant effect of venesection on anti-oxidant status or pulse wave velocity (9.65 m/s vs. 8.74 m/s, p = 0.34).ConclusionsVenesection significantly reduced high density lipoproteins but was not associated with significant changes in endothelial function, anti-oxidant status or vascular compliance. Larger studies using this established methodology are required to clarify this relationship further.     

Polymyositis/dermatomyositis and nasopharyngeal carcinoma: The Epstein–Barr virus connection?

BackgroundPolymyositis (PM) and dermatomyositis (DM) are associated with high risk of nasopharyngeal carcinoma (NPC) in Asian countries. Epstein–Barr virus (EBV) might induce autoimmunity and malignancies in susceptible individuals.ObjectivesTo investigate the association of EBV with PM/DM and NPC in PM/DM patients.Study designSerum levels of anti-EBV viral capsid antigens (VCA) and anti-EBV-coded nuclear antigens-1 (EBNA-1) antibodies were measured by ELISA, and EBV DNA loads were determined using real-time PCR for 98 PM/DM patients, 94 systemic lupus erythematosus (SLE) patients and 370 healthy controls (HC). Anti-transfer-RNA synthetase antibodies (ASA) were determined by radioimmunoprecipitation for PM/DM patients.ResultsThirteen (13.3%) of PM/DM patients vs. none of SLE patients had detectable NPC. ASA were detectable in 31.7% of PM/DM without malignancy, while lack of ASA in any PM/DM patient with NPC. IgA anti-EBNA-1 were detectable in 30.6% of PM/DM patients and 31.9% of SLE patients, but only in 4.1% of HC (odds ratio [OR] 10.44 and 11.12 respectively, both p < 0.001). Significantly higher positivity for IgA anti-EBNA-1 were observed in PM/DM with NPC than in those without malignancy (OR 44.7, p < 0.01). Significantly higher positivity for EBV genome were observed in PM/DM with NPC than in those without malignancy (OR 43.9, p < 0.01), in SLE patients (OR 13.2, p < 0.05) and in HC (OR 99.4, p < 0.001). EBV DNA loads were significantly higher in PM/DM with NPC compared with those without malignancy and HC.ConclusionsOur results showed a positive association of EBV with PM/DM and NPC. PM/DM patients who have IgA anti-EBNA-1 or increased EBV DNA loads should be highly suspected to have occult NPC.     

Enhancing patient understanding of medical procedures: Evaluation of an interactive multimedia program with in-line exercises

IntroductionStandard print and verbal information provided to patients undergoing treatments are often difficult to understand and may impair their ability to be truly informed.This study examined the effect of an interactive multimedia informational program with in-line exercises and corrected feedback on patients’ real-time understanding of their cardiac catheterization procedure.Methods151 adult patients scheduled for diagnostic cardiac catheterization were randomized to receive information about their procedure using either the standard institutional verbal and written information (SI) or an interactive iPad-based informational program (IPI). Subject understanding was evaluated using semi-structured interviews at baseline, immediately following catheterization, and 2 weeks after the procedure. In addition, for those randomized to the IPI, the ability to respond correctly to several in-line exercises was recorded. Subjects’ perceptions of, and preferences for the information delivery were also elicited.ResultsSubjects randomized to the IPI program had significantly better understanding following the intervention compared with those randomized to the SI group (8.3 ± 2.4 vs 7.4 ± 2.5, respectively, 0–12 scale where 12 = complete understanding, P < 0.05). First-time correct responses to the in-line exercises ranged from 24.3% to 100%. Subjects reported that the in-line exercises were very helpful (9.1 ± 1.7, 0–10 scale, where 10 = extremely helpful) and the iPad program very easy to use (9.0 ± 1.6, 0–10 scale, where 10 = extremely easy) suggesting good clinical utility.DiscussionResults demonstrated the ability of an interactive multimedia program to enhance patients’ understanding of their medical procedure. Importantly, the incorporation of in-line exercises permitted identification of knowledge deficits, provided corrected feedback, and confirmed the patients’ understanding of treatment information in real-time when consent was sought.     

Improving patient knowledge of palliative care: A randomized controlled intervention study

ObjectivesTo determine if laypersons’ knowledge about palliative care can improve with a brief education intervention.Methods152 adults were recruited to participate in a web-based randomized intervention trial that followed a 2 (content) × 2 (format) between-subjects design. Groups received either a video intervention, an information page intervention, a video control, or an information page control. An ANCOVA with contrast coding of two factors was utilized to assess if knowledge, as measured by the Palliative Care Knowledge Scale (PaCKS), increased post intervention.ResultsThere was a significant difference between intervention group means and control group means on PaCKS scores from T1 to T2 F(1, 139) = 11.10, p = 0.00, η_p² = 0.074. There was no significant difference in PaCKS change scores between the video intervention and information page intervention.ConclusionsThis study demonstrates that an information page and a brief video can improve knowledge of palliative care in laypersons.Practice implicationsSelf-administered educational interventions could be made available in diverse settings in order to reach patients and their families who may benefit from but are unaware of palliative care. Interventions more intensive than the one tested in this study might result in even more significant improvements in knowledge.     

The role of ficolins and MASPs in hereditary angioedema due to C1-inhibitor deficiency

Background and ObjectiveHereditary angioedema due to C1-inhibitor deficiency (HAE-C1-INH) causes disturbances in the complement system. However, the influence of HAE-C1-INH on the lectin pathway of complement is unresolved. Thus, we studied the main initiator molecules, enzymes and regulators in the lectin pathway in patients with HAE-C1-INH.MethodsThe serum concentrations of ficolin-2, ficolin-3, MBL, MASP-2, MASP-3, and MAP-1 were measured during symptom-free periods in 91 patients with HAE-C1-INH, and in 100 healthy controls using sandwich ELISAs.ResultsCompared with controls, the levels of ficolin-2 (p < 0.0001) and MASP-2 (p = 0.0238) were reduced, while the levels of MBL and MASP-3 were elevated (p = 0.0028 and p < 0.0001, respectively) in HAE-C1-INH patients. Ficolin-3 and MAP-1 levels did not differ significantly between the two groups. Ficolin-2 correlated with MASP-3 in patients (r = 0.3443, p = 0.0008), while these parameters showed an opposite relationship in controls (r = −0.4625, p < 0.0001). In the patients, ficolin-3 correlated with MASP-2 (r = 0.3698, p = 0.001). Ficolin-2, -3, and MAP-1 correlated negatively with the annual requirement of plasma derived C1-INH concentrate (r = −0.2863, p = 0.0059; r = −0.2654, p = 0.0110 and r = −0.2501, p = 0.0168, respectively). Ficolin-3 showed a negative correlation with the annual number of attacks (r = −0.2478, p = 0.0179).ConclusionsWe found significant differences between patients and controls in the levels of some of the molecules belonging to the lectin complement pathway. Low concentrations of particularly ficolin-2 and -3 were inversely correlated with the severity of HAE-C1-INH, while this was not observed for MBL. This suggests a previously unrecognized involvement of the ficolin-dependent lectin complement pathway in the pathophysiology of HAE-C1-INH.     

Genetic associations of killer immunoglobulin like receptors and class I human leukocyte antigens on childhood acute lymphoblastic leukemia among north Indians

BackgroundMolecular interactions between KIRs and their cognate HLA class-I ligands, play a central role in the regulation of natural killer (NK) cell responses in malignancies. We aimed to determine the role of KIR genes and their HLA ligands in genetic predisposition of childhood acute lymphoblastic leukemia (ALL).MethodsGenotyping of 16 KIR genes, along with HLA class-I groups C1/C2 and Bw4 super-type ligands, was carried-out in 137 childhood ALL cases and 274 healthy controls.ResultsWe observed an increased incidence of activating KIRs namely; 2DS2 (OR = 2.23, p = <0.001), 2DS3 (OR = 1.74, p = 0.011), 3DS1 (OR = 2.22, p = <0.001), 2DS5 (OR = 2.10, p = 0.001), 2DS1 (OR = 4.42, p = <0.001) and 2DS4 (OR = 2.88, p = <0.001) genes in childhood ALL cases compared to controls. Frequency of BB genotype that possess 2–6 activating KIR genes was predominant in cases compared to controls (OR = 2.55, p = <0.001). KIR-receptor/HLA-ligand combinations analysis revealed a moderate risk of almost 2-fold for activating KIR-ligand combinations namely; KIR2DS1-HLAC2, KIR2DS2-HLAC1 and KIR3DS1-HLABw4 in childhood ALL cases.ConclusionOur data suggests the role for KIR genes and their HLA ligands in aetiology of childhood ALL.     

Association between KIR gene polymorphisms and rheumatoid arthritis susceptibility: A meta-analysis

ObjectivesThe results of studies on association between KIR (killer cell immunoglobulin-like receptors) polymorphisms and susceptibility to RA (rheumatoid arthritis) are inconsistent. To comprehensively evaluate the effect of KIR polymorphisms on the risk of RA, a meta-analysis was carried out.MethodsThe Web of Science, PubMed, the Chinese Biomedical Database (CBM) and Chinese National Knowledge Infrastructure (CNKI) databases were systematically searched to select studies on the association between KIR polymorphisms and RA. The odds ratio (OR) with 95% confidence interval (95%CI) was obtained.ResultsNine qualified case–control studies were included in this meta-analysis. The results showed there were two positive associations of 2DL1, 2DS1 (OR_2DL1 = 2.20, 95%CI = 1.20–4.01, P_raw = 0.01, P_FDR = 0.03; OR_2DS1 = 1.84, 95%CI = 1.19–2.85, P_raw = 0.006, P_FDR = 0.018) and one negative association of 2DL3 (OR_2DL3 = 0.42, 95%CI = 0.22–0.79, P_raw = 0.006, P_FDR = 0.018) with susceptibility to RA in East Asians, but not in Caucasians.ConclusionThe current meta-analysis provides evidence that 2DL3 might be a potential protective factor and 2DL1, 2DS1 might be risk factors for RA in East Asians but not in Caucasians.     

Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center

PurposeIncreased implementation of complex genetic technologies in clinical practice emphasizes the urgency of genomic literacy and proficiency for medical professionals. We evaluated our genomic education model.MethodsWe assessed the 5-day, extended format program, encompassing lectures, videos, interactive tests, practice cases, and clinical exercises. Pre- and post questionnaires assessed knowledge change, using t-tests to compare groups. Satisfaction on program completion and after 3 years were evaluated. Implementation in other centers determined acceptability.ResultsDuring 2012–2018, 774 clinicians from multiple disciplines and career stages attended 35 programs; 334 (43%) attended the 5-day extended format. Evaluations showed significant improvement of genomic literacy (mean 15.05/100 points, p < 0.001). Residents initially had higher scores than specialists (pre: 66.3 ± 17.3 vs. 58.7 ± 16.6, respectively, p = 0.002); both significantly improved, with specialists “catching up” (post: 79.1 ± 17.2 vs. 75.7 ± 15.9, nonsignificant (NS)); there was a similar trend between fellows and subspecialists (pre: 70 ± 18 vs. 59.4 ± 16.4, respectively, p = 0.007; post: 78.6 ± 16.4 vs. 73.2 ± 17.7, respectively, NS). Younger specialists (≤10 years residency) had significantly higher pre- and post scores. Absolute improvement in scores did not depend on medical specialties.ConclusionOur program is effective in improving genomics literacy for clinicians, irrespective of career length or expertise, and could be a model for improving skills in practical genomics for all medical professionals.