Blood pressure measurement methodology and technology in the SWEET diabetes centers: An international SWEET database survey

Introduction: The accuracy of blood pressure (BP) measurement is a prerequisite for the reliable diagnosis and management of hypertension. Objectives: This survey evaluated the use of office and out-of-office BP measurements and the antihypertensive pharmacological treatment in expert pediatric diabetes centers. Methods: A questionnaire was distributed in 78 reference pediatric diabetes centers of the SWEET international consortium. The methodology, devices, indications, and interpretation of office BP measurements (OBPM), 24-hour ambulatory BP monitoring (ABPM) and home BP monitoring (HBPM), and the preference for antihypertensive drug treatment was assessed. A grading score was developed to evaluate centers for overall BP measurement performance. Results: Fifty-two centers responded. The average score for OBPM methodology was 72.5%, for technology 77.5% and the overall center score was 74.75%.The majority of the centers used appropriate methodology and technology, however, there was heterogeneity among them. Manual auscultatory or automated devices specifically validated for children were used by 26/52 centers. ABPM was recommended by 35/52 centers (27/35 had health insurance coverage) and HBPM by 18/52 centers. The BP measurement methodology and devices used for ABPM and HBPM were frequently inadequate. Angiotensin converting enzyme inhibitors were the most frequently prescribed drugs for treating hypertension. Conclusions: The majority of SWEET pediatric diabetes centers use adequate methodology and devices for BP measurement. ABPM is recommended by two thirds of the centers, whereas HBPM is less widely used. Further improvement in the quality of office and out-of-office BP measurements and harmonization among centers is necessary according to current guidelines. © 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Lt

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations

Two variants (c.[301_302delAG];[301_302delAG] and c.[150delA];[150delA]) in the PROP1 gene are the most common genetic causes of recessively inherited combined pituitary hormones deficiency (CPHD). Our objective was to analyze in detail the origin of the two most prevalent variants. In the multicentric study were included 237 patients with CPHD and their 15 relatives carrying c.[301_302delAG];[301_302delAG] or c.[150delA];[150delA] or c.[301_302delAG];[ 150delA]. They originated from 21 different countries worldwide. We genotyped 21 single-nucleotide variant markers flanking the 9.6-Mb region around the PROP1 gene that are not in mutual linkage disequilibrium in the general populations - a finding of a common haplotype would be indicative of ancestral origin of the variant. Haplotypes were reconstructed by Phase and Haploview software, and the variant age was estimated using an allelic association method. We demonstrated the ancestral origin of both variants - c.[301_302delAG] was carried on 0.2 Mb-long haplotype in a majority of European patients arising ~101 generations ago (confidence interval 90.1-116.4). Patients from the Iberian Peninsula displayed a different haplotype, which was estimated to have emerged 23.3 (20.1-29.1) generations ago. Subsequently, the data indicated that both the haplotypes were transmitted to Latin American patients ~13.8 (12.2-17.0) and 16.4 (14.4-20.1) generations ago, respectively. The c.[150delA] variant that was carried on a haplotype spanning about 0.3 Mb was estimated to appear 43.7 (38.4-52.7) generations ago. We present strong evidence that the most frequent variants in the PROP1 gene are not a consequence of variant hot spots as previously assumed, but are founder variants.European Journal of Human Genetics advance online publication, 10 June 2015; doi:10.1038/ejhg.2015.126

Differences in Comorbidity Burden Between those with Chronic Kidney Disease and Normal Renal Function

Introduction and Aims: Chronic kidney disease (CKD) and renal replacement therapy are both associated with significant mortality and morbidity. Co-existing comorbidity is common. The degree to which the increased morbidity and mortality is a result of the CKD, and how much a result of the co-existing comorbidity is less clear. We aimed to describe the range of comorbidity at baseline in a population cohort containing all identified within a healthcare region with CKD, those on RRT and a sample of 20,000 individuals from the same population with normal renal function. Methods: The GLOMMS-II cohort contained all individuals with a low eGFR (<60) ml/min/1.73m2 measured in our healthcare region in 2003 (in 2/3 of these with “CKD” the low eGFR was present for at least 90 days, in 1/3 with “impaired eGFR” it was not present for at least 90 days); all those with raised PCR and ACR; all those receiving RRT and a 20,000 sample of those with only normal eGFR measurements in 2003. Data-linkage to hospital episode statistics in the five years prior gave information on comorbidity in 2003. The prevalence of common comorbidities in the subgroups of the cohort is described. The odds of having each comorbidity at baseline with adjustment for age and sex are presented. Results: The prevalence of most comorbidities was higher in those with more advanced CKD (including RRT, as table). After correction for age and sex, vascular comorbidity, diabetes and haematological malignancy continued to be strongly associated with more advanced CKD. The association for other comorbidities was less marked, particularly for dementia. Impaired eGFR was also associated with many of these comorbidities Conclusions: More advanced CKD was strongly associated with vascular comorbidity and diabetes even after correction for age. This association may in part be due to the role of these comorbidities in the aetiology of CKD, as well as a consequence. In the assessment of outcomes in CKD, the effect of these comorbidities on outcome over and above that of CKD itself should be investigated further