Phosphorus and Calcium

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/142245/1/ncp0021.pd

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Abstract: Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of 3.5 years), in whom no Mendelian disorders were clinically suspected. In five patients we detect a primary immunodeficiency or enteropathy, with clinical consequences (XIAP, CYBA, SH2D1A, PCSK1). We also present a case study of a VEO-IBD patient with a mosaic de novo, pathogenic allele in CYBB. The mutation is present in ~70% of phagocytes and sufficient to result in defective bacterial handling but not life-threatening infections. Finally, we show that VEO-IBD patients have, on average, higher IBD polygenic risk scores than population controls (99 patients and 18,780 controls; P < 4 × 10−10), and replicate this finding in an independent cohort of VEO-IBD cases and controls (117 patients and 2,603 controls; P < 5 × 10−10). This discovery indicates that a polygenic component operates in VEO-IBD pathogenesis

Availability and use of healthcare resources in prisons according to the transference model: a comparative study in Spain

Abstract Objective: In most European countries, correctional healthcare provision is under strain or in the process of change regarding its management model and the implications that such modifications may entail for the improvement of inmates’ health. This paper compares the functioning and the results of health management in a facility whose healthcare service is integrated within an autonomic health system and others which depend on the department of corrections. Materials and methods: Cross-sectional study where the study unit is the facility itself. From the data collected from the record of Monthly Health Statistics of Penitentiary Institutions we have constructed a series of indicators according to the recommendations of the National Health System. Results: The physician to nurse ratio per inmate is higher in the transferred facility. Only the transferred establishment has telemedicine resources. Attendance to primary health services is higher that in all non-transferred establishments, while the mean attendance to specialized consultation in the transferred facility doubles that of the remaining centers. Discussion: We have observed greater access to specialized care in the correctional facility managed by the community health system when compared to that of the facilities managed by Penitentiary Institutions. This statement is based on a series of effectivity indicators and results that have provided significantly improved outcome in the transferred facility