The risk of hospitalization and modality failure with home dialysis

While home dialysis is being promoted, there are few comparative effectiveness studies of home-based modalities to guide patient decisions. To address this, we matched 1116 daily home hemodialysis (DHD) patients by propensity scores to 2784 contemporaneous USRDS patients receiving home peritoneal dialysis (PD), and compared hospitalization rates from cardiovascular, infectious, access-related or bleeding causes (prespecified composite), and modality failure risk. We performed similar analyses for 1187 DHD patients matched to 3173 USRDS patients receiving in-center conventional hemodialysis (CHD). The composite hospitalization rate was significantly lower with DHD than with PD (0.93 vs. 1.35/patient-year, hazard ratio=0.73 (95% CI=0.67–0.79)). DHD patients spent significantly fewer days in hospital than PD patients (5.2 vs. 9.2 days/patient-year), and significantly more DHD patients remained admission-free (52% DHD vs. 32% PD). In contrast, there was no significant difference in hospitalizations between DHD and CHD (DHD vs. CHD: 0.93 vs. 1.10/patient-year, hazard ratio 0.92 (0.85–1.00)). Cardiovascular hospitalizations were lower with DHD than with CHD (0.68 (0.61–0.77)), while infectious and access hospitalizations were higher (1.15 (1.04–1.29) and 1.25 (1.08–1.43), respectively). Significantly more PD than DHD patients switched back to in-center HD (44% vs. 15%; 3.4 (2.9–4.0)). In this prevalent cohort, home DHD was associated with fewer admissions and hospital days than PD, and a substantially lower risk of modality failure

MARGOT: Dynamic IoT Resource Discovery for HADR Environments

Smart City services leverage sophisticated IT architectures whose assets are deployed in dynamic and heterogeneous computing and communication scenarios. Those services are particularly interesting for Humanitarian Assistance and Disaster Relief (HADR) operations in urban environments, which could improve Situation Awareness by exploiting the Smart City IT infrastructure. To this end, an enabling requirement is the discovery of the available Internet-of-Things (IoT) resources, including sensors, actuators, services, and computing resources, based on a variety of criteria, such as geographical location, proximity, type of device, type of capability, coverage, resource availability, and communication topology / quality of network links. To date, no single standard has emerged that has been widely adopted to solve the discovery challenge. Instead, a variety of different standards have been proposed and cities have either adopted one that is convenient or reinvented a new standard just for themselves. Therefore, enabling discovery across different standards and administrative domains is a fundamental requirement to enable HADR operations in Smart Cities. To address these challenges, we developed MARGOT (Multi-domain Asynchronous Gateway Of Things), a comprehensive solution for resource discovery in Smart City environments that implements a distributed and federated architecture and supports a wide range of discovery protocols

Long term risk for hypertension, renal impairment, and cardiovascular disease after gastroenteritis from drinking water contaminated with Escherichia coli O157:H7: a prospective cohort study

Objectives To evaluate the risk for hypertension, renal impairment, and cardiovascular disease within eight years of gastroenteritis from drinking water contaminated with Escherichia coli O157:H7 and Campylobacter

Risk of pregnancy-related hypertension within 5 years of exposure to drinking water contaminated with Escherichia coli O157:H7

The authors evaluated the risk for pregnancy-related hypertension among previously healthy women who conceived within 5 years of exposure to drinking water contaminated with Escherichia coli O157.H7 in Walkerton, Canada (2000). Chronic hypertension was defined as systolic/diastolic blood pressure ≥140/90 mm Hg before 20 weeks gestation; gestational hypertension was defined as new onset systolic/diastolic blood pressure ≥140/90 mm Hg ≥20 weeks gestation. The incidence of hypertension was compared between women who were asymptomatic during the outbreak to those who experienced acute gastroenteritis. Blood pressure data were available for 135 of 148 eligible pregnancies. The adjusted relative risks for chronic and gestational hypertension were 1.5 (95% confidence interval [CI]: 0.3-7.7) and 1.0 (95% CI: 0.4-2.5), respectively. Mean arterial pressure before 20 weeks gestation was 2.7 mm Hg higher in women who had acute gastroenteritis (95% CI: 0.05-5.4). A trend toward higher chronic hypertension and mean arterial pressure in early pregnancy was observed among women who experienced gastroenteritis after exposure to bacterially-contaminated drinking water. © 2010 Wiley Periodicals, Inc

Characterizing Hypertension Specialist Care in Canada: A National Survey

BACKGROUND: The hypertension specialist often receives referrals of patients with young-onset, severe, difficult-to-control hypertension, patients with hypertensive emergencies, and patients with secondary causes of hypertension. Specialist hypertension care compliments primary care for these complex patients and contributes to an overall hypertension control strategy. The objective of this study was to characterize hypertension centres and the practice patterns of Canadian hypertension specialists. METHODS: Adult hypertension specialists across Canada were surveyed to describe hypertension centres and specialist practice in Canada, including the following: the patient population managed by hypertension specialists; details on how care is provided; practice pattern variations; and differences in access to specialized hypertension resources across the country. RESULTS: The survey response rate was 73.5% from 25 hypertension centres. Most respondents were nephrologists and general internal medicine specialists. Hypertension centres saw between 50 and 2500 patients yearly. A mean of 17% (± 15%) of patients were referred from the emergency department and a mean of 52% (± 24%) were referred from primary care. Most centres had access to specialized testing (adrenal vein sampling, level 1 sleep studies, autonomic testing) and advanced therapies for resistant hypertension (renal denervation). Considerable heterogeneity was present in the target blood pressure in young people with low cardiovascular risk and in the diagnostic algorithms for investigating secondary causes of hypertension. CONCLUSIONS: These results summarize the current state of hypertension specialist care and highlight opportunities for further collaboration among hypertension specialists, including standardization of the approach to specialist care for patients with hypertension

Heart failure in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies conference

The incidence and prevalence of heart failure (HF) and chronic kidney disease (CKD) are increasing, and as such a better understanding of the interface between both conditions is imperative for developing optimal strategies for their detection, prevention, diagnosis, and management. To this end, Kidney Disease: Improving Global Outcomes (KDIGO) convened an international, multidisciplinary Controversies Conference titled Heart Failure in CKD. Breakout group discussions included (i) HF with preserved ejection fraction (HFpEF) and nondialysis CKD, (ii) HF with reduced ejection fraction (HFrEF) and nondialysis CKD, (iii) HFpEF and dialysis-dependent CKD, (iv) HFrEF and dialysis-dependent CKD, and (v) HF in kidney transplant patients. The questions that formed the basis of discussions are available on the KDIGO website http://kdigo.org/conferences/heart-failure-in-ckd/, and the deliberations from the conference are summarized here

Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations.

OBJECTIVES: To report the baseline results of a longitudinal psychosocial study that forms part of the IMPACT study, a multi-national investigation of targeted prostate cancer (PCa) screening among men with a known pathogenic germline mutation in the BRCA1 or BRCA2 genes. PARTICPANTS AND METHODS: Men enrolled in the IMPACT study were invited to complete a questionnaire at collaborating sites prior to each annual screening visit. The questionnaire included sociodemographic characteristics and the following measures: the Hospital Anxiety and Depression Scale (HADS), Impact of Event Scale (IES), 36-item short-form health survey (SF-36), Memorial Anxiety Scale for Prostate Cancer, Cancer Worry Scale-Revised, risk perception and knowledge. The results of the baseline questionnaire are presented. RESULTS: A total of 432 men completed questionnaires: 98 and 160 had mutations in BRCA1 and BRCA2 genes, respectively, and 174 were controls (familial mutation negative). Participants' perception of PCa risk was influenced by genetic status. Knowledge levels were high and unrelated to genetic status. Mean scores for the HADS and SF-36 were within reported general population norms and mean IES scores were within normal range. IES mean intrusion and avoidance scores were significantly higher in BRCA1/BRCA2 carriers than in controls and were higher in men with increased PCa risk perception. At the multivariate level, risk perception contributed more significantly to variance in IES scores than genetic status. CONCLUSION: This is the first study to report the psychosocial profile of men with BRCA1/BRCA2 mutations undergoing PCa screening. No clinically concerning levels of general or cancer-specific distress or poor quality of life were detected in the cohort as a whole. A small subset of participants reported higher levels of distress, suggesting the need for healthcare professionals offering PCa screening to identify these risk factors and offer additional information and support to men seeking PCa screening

Further delineation of Malan syndrome

Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is > 2 SDS in infancy and childhood but in only half of affected adults. Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip, and prominent chin. Intellectual disability is universally present, behaviorally anxiety is characteristic. Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2. There is no genotype-phenotype correlation except for an increased risk for epilepsy with 19p13.2 microdeletions. Variants arose de novo, except in one family in which mother was mosaic. Variants causing Malan and Marshall-Smith syndrome can be discerned by differences in the site of stop codon formation. We conclude that Malan syndrome has a well recognizable phenotype that usually can be discerned easily from Marshall–Smith syndrome but rarely there is some overlap. Differentiation from Sotos and Weaver syndrome can be made by clinical evaluation only

The contribution of X-linked coding variation to severe developmental disorders

Abstract: Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in 11,044 developmental disorder patients, and find a similar rate of X-linked causes in males and females (6.0% and 6.9%, respectively), indicating that such variants do not account for the 1.4-fold male bias. We develop an improved strategy to detect X-linked developmental disorders and identify 23 significant genes, all of which were previously known, consistent with our inference that the vast majority of the X-linked burden is in known developmental disorder-associated genes. Importantly, we estimate that, in male probands, only 13% of inherited rare missense variants in known developmental disorder-associated genes are likely to be pathogenic. Our results demonstrate that statistical analysis of large datasets can refine our understanding of modes of inheritance for individual X-linked disorders

Comparative Effectiveness of Home Dialysis Therapies: A Matched Cohort Study

Background: Home dialysis is being increasingly promoted among patients with end-stage renal disease, but the comparative effectiveness of home hemodialysis and peritoneal dialysis is unknown. Objective: To determine whether patients receiving home daily hemodialysis have reduced mortality risk compared with matched patients receiving home peritoneal dialysis. Design: This study is an observational, propensity-matched, new-user cohort study. Setting: Linked electronic data were from the United States Renal Data System (USRDS) and a large dialysis provider's database. Patients: The patients were adults receiving in-center hemodialysis in the USA between 2004 and 2011 and registered in the USRDS. Measurements: Baseline comorbidities, demographics, and outcomes for both groups were ascertained from the United States Renal Data System. Methods: We identified 3142 consecutive adult patients initiating home daily hemodialysis (≥5 days/week for ≥1.5 h/day) and matched 2688 of them by propensity score to 2688 contemporaneous US patients initiating home peritoneal dialysis. We used Cox regression to compare all-cause mortality between groups. Results: After matching, the two groups were well balanced on all baseline characteristics. Mean age was 51 years, 66 % were male, 72 % were white, and 29 % had diabetes. During 10,221 patient-years of follow-up, 1493/5336 patients died. There were significantly fewer deaths among patients receiving home daily hemodialysis than those receiving peritoneal dialysis (12.7 vs 16.7 deaths per 100 patient-years, respectively; hazard ratio (HR) 0.75; 95 % CI 0.68–0.82; p < 0.001). Similar results were noted with several different analytic methods and for all pre-specified subgroups. Limitations: We cannot exclude residual confounding in this observational study. Conclusions: Home daily hemodialysis was associated with lower mortality risk than home peritoneal dialysis