Aims The purpose of this study was to assess the clinical performance and user acceptance of capillary blood samples prepared remotely using the MiniCollect (R) capillary blood collection device as an alternative to blood collection by venepuncture for glycated haemoglobin (HbA(1c)) analysis. Methods Following written informed consent, a cross-sectional study was conducted in individuals aged >= 18 years with any type of diabetes who routinely self-monitor their blood glucose. Eligible participants recruited whilst attending their routine clinical appointments were required to provide a venous blood sample, prepare a capillary blood sample at home (remotely) and complete a bespoke questionnaire. HbA(1c) in whole blood collected in ethylenediaminetetraacetic acid was determined by capillary electrophoresis on the Sebia Capillary's 3 Tera analyser following standard operating procedure. Results HbA(1c) results from both venous and capillary collection demonstrated good agreement. Passing-Bablok regression: y = 0 + 1x (p = 0.18), Spearman correlation r = 0.986, p < 0.0001. The Bland-Altman difference plot provided a mean difference of 0.3 mmol/mol (2.2%). Over half of the participants found the MiniCollect device easy to use. The majority of participants were in favour of the remote capillary blood collection service and would use it if routinely available. Conclusion The home collection of capillary blood for HbA(1c) determination is a valuable and convenient alternative to standard venous blood collection as it provides an opportunity to support routine HbA(1c) monitoring, whilst mitigating the transmission of SARS-CoV-2. This service would additionally allow individuals to attend clinic visits with a HbA(1c) value, ensuring optimal continuance of patient care for individuals with diabetes.

Background Pregnancy induces physiological changes which affect biochemical and haematological parameters. As the significance of laboratory test results change throughout pregnancy, the reference interval (RI) or key result interpretive guide should be specific to pregnancy. This study sought to establish trimester-specific-RIs for routine biochemical and haematological tests in healthy white European women with singleton pregnancies with comparison to RIs for non-pregnant European adults. Methods A retrospective analysis of a prospective longitudinal single-centre study of healthy pregnant women conducted between November 2018 and December 2020 in a tertiary academic hospital with approximately 3000 births annually. Inclusion criteria: signed informed consent, age ≥18 years, white European, body mass index (BMI) <25 kg/m2, blood pressure <140/90mmHg, non-smoker, no previous pathology or gestational diabetes. Trimester defined as T1: up to 13 weeks + 6 days, T2: 14–27 weeks + 6 days and T3: ≥28–41 weeks + 6 days. Baseline demographics, anthropometric and laboratory measurements were recorded. In total, 31 biochemical and 10 haematological ISO15189:2012 accredited tests were measured using Roche Cobas® and Sysmex XN-9100™ analysers, respectively. RIs were established according to the International Federation of Clinical Chemistry (IFCC) recommended method. Results Apparently healthy pregnant women ( n = 124) with bio-banked serum samples in each trimester were recruited. At the booking visit, 49.2% ( n = 61) of participants were nulliparous, with median age of 34.4 (IQR: 31.3–37.3) years, gestational age of 89 (IQR: 84–93) days, BMI of 22.5 (IQR: 21.0–23.7) kg/m2 and systolic and diastolic blood pressure of 116 (110–125) mmHg and 67 (61–75) mmHg, respectively. Conclusions Normative trimester-specific biological intervals for routinely requested biochemical and haematological medical laboratory tests were established. These RIs will be invaluable to result interpretation and the management of pregnant women.

In laboratory medicine, reference intervals (RIs) are key decision support tools used to guide the clinical interpretation of numerical test results. Best practice suggests each laboratory establishes RIs in the local population prior to introducing an assay into routine clinical practice. The aim of this study was to define RIs for frequently requested biochemical/haematological parameters in a healthy adult Irish Caucasian population. A cross-sectional study of non-pregnant apparently healthy volunteers was conducted. Baseline demographics, anthropometric and laboratory measurements were recorded. In total, 37 commonly requested biochemical (serum, n = 26) and haematological (venous blood, n = 11) ISO15189:2012 accredited tests were analysed, using the Roche Cobas® Sebia Capillarys 3 Tera and Siemens Advia® 2120i platforms following standard operating procedures. RIs were defined according to the International Federation of Clinical Chemistry (IFCC) recommended method. Of 208 apparently healthy volunteers, 76 failed to meet the study inclusion criteria. The reference population comprised of 132 participants (males: n = 65, 49.2%) with a median age of 29.7 (18.1–62.2) years. RIs for the majority of biochemical/haematological parameters were broadly in accord with those provided by Pathology Harmony (UK)/Irish RI Harmonisation Project and the manufacturer Roche Diagnostics. However, the established RI defined for HbA1c: 27–37 mmol/mol was markedly different from that quoted nationally, HbA1c: 20–42 mmol/mol. Normative biological intervals established in a healthy adult Irish population for 37 commonly requested biochemical/haematological parameters will be a valuable aid to result interpretation in clinical laboratories after appropriate verification in accordance with ISO 15189: 2012.

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)(2)D ratios (>50) during follow-up. Conclusions: W275R is a new pathogenic CYP24A1 mutation in compound heterozygotic form with R439C in this family.

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.

An 88-year-old female nursing home resident attended the endocrinology department for routine follow-up of primary hyperparathyroidism. Diagnosed 9 years earlier, she was deemed unsuitable for surgery and treated medically with cinacalcet, a calcimimetic that acts by allosteric activation of the calcium-sensing receptor reducing parathyroid hormone (PTH)6 secretion by the parathyroid gland (1). Several years before her current outpatient attendance, she was diagnosed with vitamin D deficiency (2) \[serum 25-hydroxyvitamin D (25(OH)D), 10.4 ng/mL (26 nmol/L)\] (Table 1). The Endocrine Society Clinical Practice Guideline for the management of vitamin D deficiency considers a 25(OH)D concentration of ≥30 ng/mL (≥75 nmol/L) optimal for bone health (2). Vitamin D supplementation was recommended. Cholecalciferol (vitamin D3) was prescribed (800 IU/day). At clinic, she was medically stable, well hydrated, and normotensive. Her estimated glomerular filtration rate (eGFR) was 30 mL/min/1.73 m2, indicative of impaired renal function. The eGFR estimation [calculated using the Chronic Kidney Disease–Epidemiology Collaboration (CKD-EPI) formula] met the National Kidney Foundation criteria for chronic kidney disease (CKD) stage 3b, or moderate to severe loss of kidney function (3). Measurement of ionized calcium is not routinely available in the outpatient setting and was not requested in this case. However, she was normocalcemic with an adjusted calcium of 9.3 mg/dL (2.33 mmol/L) [reference …

There are many risk factors for Vitamin D deficiency. This study aimed to compare the Vitamin D status and serum 25(OH)D concentrations of adults living in an urban area to adults living in a rural area in the West of Ireland (latitude 53.27° North). A cross-sectional retrospective analysis of clinical records was performed. Following interrogation of the electronic laboratory information system, individuals who had serum 25(OH)D concentrations measured at Galway University Hospitals between January 2011 and December 2015 were identified. Clinical demographics, setting and date of sampling were recorded. In total, 17,590 patients (urban n = 4,824; rural n = 12,766) were eligible for inclusion. Serum 25(OH)D concentrations were lower among rural compared to urban dwellers irrespective of season (spring p < 0.001, summer p = 0.009, autumn p = 0.002, winter p < 0.001). There was a significant difference in Vitamin D status between urban and rural dwellers in three of the four seasons: spring- deficiency: 16%-v-23%, insufficiency: 39%-v-43%, sufficiency: 45%-v-35% (p < 0.001); autumn- deficiency: 11%-v-10%, insufficiency: 30%-v-35%, sufficiency: 59%-v-56% (p = 0.01); winter- deficiency: 23%-v-25%, insufficiency: 35%-v-42%, sufficiency: 41%-v-33% (p < 0.001). Serum 25(OH)D concentrations were higher and the prevalence of deficiency lower in urban/rural females compared to urban/rural males (p < 0.001). Serum 25(OH)D concentrations increased sequentially from the 18-39 year age group to the 60-69 year age group in both urban (p < 0.001) and rural (p < 0.001) dwellers and then decreased progressively as age increased to ≥90 years. The odds of Vitamin D deficiency increased with age, lower daily sunshine hours, male gender, rural address and season.