BackgroundUnderstanding the factors that make it more or less likely that healthcare practitioners (HCPs) will perform certain patient safety behaviors is important in developing effective intervention strategies. A questionnaire to identify determinants of HCP patient safety behaviors does not currently exist. This study reports the development and initial validation of the Influences on Patient Safety Behaviors Questionnaire (IPSBQ) based on the Theoretical Domains Framework.MethodsTwo hundred and thirty-three HCPs from three acute National Health Service Hospital Trusts in the United Kingdom completed the 34-item measure focusing on one specific patient safety behavior (using pH as the first line method for checking the position of a nasogastric tube). Confirmatory factor analysis (CFA) was undertaken to generate the model of best fit.ResultsThe final questionnaire consisted of 11 factors and 23 items, and CFA produced a reasonable fit: χ2 (175) = 345.7, p < 0.001; CMIN/DF = 1.98; GFI = 0.90 and RMSEA = 0.06, as well as adequate levels of discriminant validity, and internal consistency (r = 0.21 to 0.64).ConclusionsA reliable and valid theoretically underpinned measure of determinants of HCP patient safety behavior has been developed. The criterion validity of the measure is still unknown and further work is necessary to confirm the reliability and validity of this measure for other patient safety behaviors.

Introduction Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD- UMOD ) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). The minor allele of rs4293393, located in the promoter of the UMOD gene, is present in 19% of the population and downregulates uromodulin production by approximately 50% and might affect the age of ESKD. The goal of this study was to better understand the genetic and clinical characteristics of ADTKD- UMOD and to perform a Mendelian randomization study to determine if the minor allele of rs4293393 was associated with better kidney survival. Methods An international group of collaborators collected clinical and genetic data on 722 affected individuals from 249 families with 125 mutations, including 28 new mutations. The median age of ESKD was 47 years. Men were at a much higher risk of progression to ESKD (hazard ratio 1.78, P < 0.001). Results The allele frequency of the minor rs4293393 allele was only 11.6% versus the 19% expected ( P < 0.01), resulting in Hardy-Weinberg disequilibrium and precluding a Mendelian randomization experiment. An in vitro score reflecting the severity of the trafficking defect of uromodulin mutants was found to be a promising predictor of the age of ESKD. Conclusion We report the clinical characteristics associated with 125 UMOD mutations. Male gender and a new in vitro score predict age of ESKD.

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We developed a noninvasive immunohistochemical method to detect MUC1fs that, after further validation, may be useful in the future for diagnostic testing. Production of the MUC1fs protein may be central to the pathogenesis of ADTKD-.

Purpose-To evaluate self-referral from the Internet for genetic diagnosis of several rare inherited kidney diseases. Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:

<b><i>Introduction:</i></b> Patients with ADTKD-<i>MUC1</i> have one allele producing normal mucin-1 (MUC1) and one allele producing mutant MUC1, which remains intracellular. We hypothesized that ADTKD-<i>MUC1</i> patients, who have only 1 secretory-competent wild-type <i>MUC1</i> allele, should exhibit decreased plasma mucin-1 (MUC1) levels. To test this hypothesis, we repurposed the serum CA15-3 assay used to measure MUC1 in breast cancer to measure plasma MUC1 levels in ADTKD-<i>MUC1</i>. <b><i>Methods:</i></b> This cross-sectional study analyzed CA15-3 levels in a reference population of 6,850 individuals, in 85 individuals with ADTKD-<i>MUC1</i>, and in a control population including 135 individuals with ADTKD-<i>UMOD</i> and 114 healthy individuals. <b><i>Results:</i></b> Plasma CA15-3 levels (mean ± standard deviation) were 8.6 ± 4.3 U/mL in individuals with ADTKD-<i>MUC1</i> and 14.6 ± 5.6 U/mL in controls (<i>p</i> &#x3c; 0.001). While there was a significant difference in mean CA15-3 levels, there was substantial overlap between the 2 groups. Plasma CA15-3 levels were &#x3c;5 U/mL in 22% of ADTKD-<i>MUC1</i> patients, in 0/249 controls, and in 1% of the reference population. Plasma CA15-3 levels were &#x3e;20 U/mL in 1/85 ADTKD-<i>MUC1</i> patients, in 18% of control individuals, and in 25% of the reference population. Segregation of plasma CA15-3 levels by the rs4072037 genotype did not significantly improve differentiation between affected and unaffected individuals. CA15-3 levels were minimally affected by gender and estimated glomerular filtration rate. <b><i>Discussion/Conclusions:</i></b> Plasma CA15-3 levels in ADTKD-<i>MUC1</i> patients are approximately 40% lower than levels in healthy individuals, though there is significant overlap between groups. Further investigations need to be performed to see if plasma CA15-3 levels would be useful in diagnosis, prognosis, or assessing response to new therapies in this disorder.

Introduction Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized cause of chronic kidney disease. ADTKD pregnancy outcomes have not previously been described. Methods A cross-sectional survey was sent to women from ADTKD families. Results Information was obtained from 85 afffected women (164 term pregnancies) and 23 controls (50 pregnancies). Only 16.5% of genetically affected women knew they had ADTKD during pregnancy. Eighteen percent of ADTKD mothers had hypertension during pregnancy versus 12% in controls ( p  =  0.54) and >40% in comparative studies of chronic kidney disease in pregnancy. Eleven percent of births of ADTKD mothers were <37 weeks versus 0 in controls ( p < 0.0001). Cesarean section occurred in 19% of pregnancies in affected women versus 38% of unaffected individuals ( p  =  0.06). Only 12% of babies required a neonatal intensive care unit stay. Conclusions ADTKD pregnancies had lower rates of hypertension during pregnancy versus other forms of chronic kidney disease, which may have contributed to good maternal and fetal outcomes.

Increasing prevalence of diabetes means that diabetic nephropathy is becoming more common. Victoria Robins outlines how early detection and monitoring can slow the progression to end-stage renal failure