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Background Approximately 1 billion people worldwide have Vitamin D deficiency. The aim of this study was to compare Vitamin D status and serum 25-hydroxyvitamin D (25(OH)D) concentrations among adults sampled in the community, in outpatient clinics, as hospital inpatients and in nursing homes in the West of Ireland. The secondary aim was to determine the associations between length of hospital stay (inpatients) at the time of serum 25(OH)D sampling and Vitamin D status. Methods A cross-sectional study was carried out. Patients who had serum 25(OH)D analysis carried out in Galway University Hospitals (January 2011–December 2015) were identified following interrogation of the electronic laboratory data system. Baseline demographics, location, and date of sample collection were recorded. Vitamin D deficiency was defined as a serum 25(OH)D concentration <25 nmol/L. Results In total, 24,302 patient samples were eligible for inclusion: community 15,319; outpatient clinics 6,371; inpatients 2,339; and nursing home residents 273. Vitamin D deficiency was more common in nursing home residents than inpatients, or those sampled in outpatient clinics or in the community (42% vs 37% vs 17% vs 13%; p < .001). Inpatients sampled further into their hospital stay (≥3 days) had greater Vitamin D deficiency than inpatients sampled on 0–2 days (p = .007). Season (p < .001), sex (p < .001), and age (p < .001) were associated with 25(OH)D concentrations. Vitamin D deficiency was more common in Winter/Spring, in males, and in those aged ≥80 years. Conclusions Nursing home residents and inpatients are at the highest risk for Vitamin D deficiency. Season, sex, age, and day of hospital stay on which serum 25(OH)D concentrations were sampled were associated with Vitamin D status.

bIn this study, we evaluated the use of EntericBio real-time Gastro Panel I (Serosep, Limerick, Ireland) for routine use in a clinical microbiology laboratory for simultaneous detection of Campylobacter jejuni, coli, and lari, Shiga toxin-producing Escherichia coli (STEC), Salmonella spp., and Shigella spp. in feces. This system differs from its predecessor (the EntericBio Panel II system, Serosep) in that it allows real-time detection of pathogens directly from feces, without pre-enrichment. It also specifically detects Campylobacter jejuni, coli, and lari rather than all Campylobacter species, as is the case with the previous system. A total of 528 samples from patients presenting with acute gastroenteritis were screened prospectively with this assay, and results were compared with those of the current method, which combines screening the samples with a molecular assay (the EntericBio Panel II assay) and retrospective culture of the specimens in which the target was detected. Discrepancy analysis was conducted using culture and molecular methods. A cute infectious gastroenteritis is common and has important economic and social consequences for both communities and health systems due to its high rate of occurrence (1). Worldwide, it is associated with a high incidence of morbidity and mortality (2), particularly among children (3).Most clinical microbiology laboratories still use traditional, culture-based diagnostic techniques for routine detection of bacterial enteric pathogens. These are both time-consuming and laborious and, in addition, have a prolonged delay in the reporting of results. This can have a significant impact on institutions such as hospitals or nursing homes, where early detection and prevention of disease spread is crucial. Molecular detection of pathogens has, however, been shown to be faster and more sensitive than traditional culture (4, 5). It is especially important where culturebased pathogen detection is problematic or lacks sensitivity. The best example of this is the genus Campylobacter, certain members of which, such as C. jejuni, can remain viable but noncultivable (6), therefore producing false-negative results if detection is based solely on a culture. Moreover, some species which can cause gastroenteritis, such as C. upsaliensis, are unlikely to be correctly isolated and identified on common media (7). Furthermore, the exact role of some fastidious Campylobacter spp. (such as C. ureolyticus or C. concisus) in gastroenteritis is still under investigation despite their being detected in large proportions of samples from patients with gastroenteritis (8, 9).Here, we present a validation study of EntericBio real-time Gastro Panel I (Serosep, Limerick, Ireland), a commercial realtime PCR system (CE marked for in vitro use) for simultaneous detection of Campylobacter jejuni, coli, and lari, Shiga toxin-producing Escherichia coli (STEC) (through detection of Stx1 and Stx2), Shigella spp., and Salmonella spp. directly from patients' feces. MATERIALS AND METHODSPatient samples. Between ...

Introduction Inactivating mutations in CYP24A1, encoding vitamin D-24-hydroxylase, can lead to an accumulation of active vitamin D metabolites and consequent hypercalcaemia. Patient (infantile and adult) presentation is varied and includes mild-severe hypercalcaemia, hypercalciuria, nephrocalcinosis and nephrolithiasis. This study aimed to characterize the clinical and biochemical phenotypes of a family with two CYP24A1 missense variants. Methods The proband and seven family members underwent detailed clinical and biochemical evaluation. Laboratory measurements included serum calcium, intact parathyroid hormone (iPTH), vitamin D metabolites and urine calcium and creatinine. Results The proband presented during the second trimester of a planned pregnancy with flu-like symptoms. Laboratory tests showed elevated adjusted calcium of 3.27 (upper reference limit (URL: 2.30) mmol/L), suppressed iPTH (<6 ng/L), elevated 25(OH)D (264 (URL: 55) nmol/L) and elevated 1,25(OH)D (293 (URL: <280) pmol/L). Ionized calcium was 1.55 (URL: 1.28) mmol/L. Sanger sequencing revealed two heterozygous missense variants in the CYP24A1: p.(Arg439Cys), R439C and p.(Trp275Arg), W275R. The proband’s brother and sister had the same genotype. The brother had intermittent hypercalcaemia and hypervitaminosis D. Only the sister had a history of nephrolithiasis. The proband’s daughter and two nephews were heterozygous for the R439C variant. The proband and her brother frequently had elevated 25(OH)D:24,25(OH)2D ratios (>50) during follow-up. Conclusions W275R is a new pathogenic CYP24A1 mutation in compound heterozygotic form with R439C in this family.

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