A Novel β-Globin Variant, Hb Raklev [β 75(E19) :c.227T > A (Leu→Gln)].

We present a new hemoglobin variant, Hb Raklev, characterized by the substitution of leucine with glutamine at position 75 in the β-globin chain. This variant was discovered inadvertently during an HbA evaluation using high performance liquid chromatography in a symptomless 54-year-old Caucasian woman, with the same variant also identified in her 16-year-old daughter. Purification of the hemoglobin revealed possibly diminished 2,3-bisphosphoglycerate (2,3-BPG) sensitivity, which may result in heightened oxygen affinity.

Hb Kalundborg [β79(EF3)Asp→Glu; : c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A Measurement.

A previously unknown hemoglobin (Hb) variant was detected during measurement of glycosylated Hb (Hb A) after the introduction of a new high performance liquid chromatography (HPLC) apparatus. Subsequent DNA sequencing revealed a heterozygous single nucleotide substitution at codon 79 (C>A) on the β-globin gene changing an amino acid [β79(EF3)Asp→Glu; : c.240C>A].

Plasma fibulin-1 levels during pregnancy and delivery: a longitudinal observational study.

Background: Fibulin-1 is an extracellular matrix protein expressed at high levels in the placenta. Elevated circulating fibulin-1 have been observed in women with severe pre-eclampsia, whereas low levels have been found in the fetal membranes, prior to membrane rupture. The aim of the study was primarily to evaluate plasma fibulin-1 during expected normal pregnancy and delivery, and secondarily to explore fibulin-1 levels in women developing pre-eclampsia or preterm premature rupture of fetal membranes (PPROM).

Thyroid function in COVID-19 and the association with cytokine levels and mortality.

The hypothalamic-pituitary-thyroid hormone axis might be affected in COVID-19, but existing studies have shown varying results. It has been hypothesized that hyperinflammation, as reflected by the secretion of cytokines, might induce thyroid dysfunction among patients with COVID-19. We explored thyroid hormone involvement in the acute phase of symptomatic COVID-19 and its possible associations with cytokine levels and mortality risk.

Evaluation of the sysmex UF-5000 fluorescence flow cytometer as a screening platform for ruling out urinary tract infections in elderly patients presenting at the Emergency Department.

In this study, we evaluated the performance of the flow cytometer-based Sysmex UF-5000 automated urine analyzer as a screening tool for ruling out urinary tract infections in elderly patients presenting at the emergency department. A total of 1119 unselected patient samples (including 544 samples from elderly patients) submitted for urine culture were included in this study. Samples were measured on UF-5000 and dipsticks and the results were compared with interpretation of culture results, which is the gold standard.

Comparison of 16 Serological SARS-CoV-2 Immunoassays in 16 Clinical Laboratories.

Serological assays for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are needed to support clinical diagnosis and epidemiological investigations. Recently, assays for large-scale detection of total antibodies (Ab), immunoglobulin G (IgG), and IgM against SARS-CoV-2 antigens have been developed, but there are limited data on the diagnostic accuracy of these assays. This study was a Danish national collaboration and evaluated 15 commercial and one in-house anti-SARS-CoV-2 assays in 16 laboratories.

Evaluation of Therapeutic Drug Monitoring in the Clinical Management of Patients with Rheumatic Diseases: Data from a Retrospective Single-Center Cohort Study.

Purpose: Treatment of rheumatic diseases with tumor necrosis factor inhibitors leads to improved clinical outcomes. Therapeutic drug monitoring (TDM) may assist in guiding clinical decisions. This study investigates the impact of TDM on clinical outcome, decision-making and biologics cost expenditure.

Variation in plasma 25-hydroxyvitamin D2 and D3 in normal pregnancy with gestational age, sampling season, and complications: A longitudinal cohort study.

Introduction: Low levels of vitamin D in pregnancy have been associated with the risk of a variety of pregnancy outcomes. Few studies have investigated vitamin D concentrations throughout pregnancy in healthy women, and most guidelines recommend high vitamin D levels. In the present study, we investigated 25-hydroxyvitamin D concentrations in healthy Caucasian Danish women in relation to season, gestational age and possible vitamin D-linked complications.

Bacterial colonization of seromas after breast cancer surgery with and without local steroid prophylaxis.

Background: Seroma formation is a frequent postoperative sequela after mastectomy for primary breast cancer. We investigated the role of bacterial colonization of seroma fluid with three different culture methods and the effect of intracavitary steroids.

Methods: The study group consisted of 212 patients scheduled for mastectomy from a previously performed double-blind randomized placebo-controlled intervention trial.

Urinary excretion of phenols, parabens and benzophenones in young men: Associations to reproductive hormones and semen quality are modified by mutations in the Filaggrin gene.

Background: The filaggrin gene (FLG) encodes an epidermal protein, filaggrin, which is important for normal skin barrier functions. We previously showed that FLG loss-of-function mutation carriers have a higher internal exposure to some non-persistent chemicals such as certain phthalates and parabens, suggesting increased trans-epidermal penetration. Several groups of non-persistent chemicals are suspected endocrine disrupters with potential to affect testicular function.

Environmental tobacco smoke exposure during pregnancy has limited effect on infant birthweight and umbilical vein endothelial nitric oxide synthase.

Introduction: Women who smoke, deliver significantly smaller infants. These infants have reduced levels of the vasodilator endothelial nitric oxide synthase (eNOS) levels in the umbilical vessels, which may reduce fetal growth. Serum cotinine, the degradation product of nicotine, can be used to determine the level of tobacco exposure.

The smartphone camera as a potential method for transcutaneous bilirubin measurement.

Background: Hyperbilirubinemia is a common problem in neonates that can progress into kernicterus. Suspected neonatal hyperbilirubinemia is a common reason for contact with the healthcare system. The severity and management of jaundice are determined based on estimated bilirubin levels.

Exposure to phenols, parabens and UV filters: Associations with loss-of-function mutations in the filaggrin gene in men from the general population.

Background: Filaggrin is an epidermal protein that is important for normal skin barrier functions. Up to 10% of Europeans and Asians carry filaggrin gene (FLG) loss-of function mutations that appear to facilitate trans-epidermal penetration of certain chemicals. We previously showed that mutation carriers have higher internal exposure to certain phthalates, compared to controls, and hypothesized that they could have increased trans-epidermal penetration of other chemicals.

Hand eczema, atopic dermatitis and filaggrin mutations in adult Danes: a registry-based study assessing risk of disability pension.

Background: Atopic dermatitis and hand eczema often impair the ability of people to work. Only a few studies have investigated whether individuals with loss-of-function filaggrin gene (FLG) mutations, who often have severe and early onset of dermatitis, experience occupational consequences.

Objective: To investigate the personal consequences of having atopic dermatitis and/or hand eczema and FLG mutations.

Weekday variation in triglyceride concentrations in 1.8 million blood samples.

Triglyceride (TG) concentration is used as a marker of cardiometabolic risk. However, diurnal and possibly weekday variation exists in TG concentrations. The objective of this work was to investigate weekday variation in TG concentrations among 1.

Health-related quality of life in adult dermatitis patients stratified by filaggrin genotype.

Background: Information concerning health-related quality of life (HRQoL) and comorbidities of adult dermatitis patients stratified by loss-of-function mutations in the filaggrin gene (FLG) is limited.

Objective: To investigate HRQoL, skin symptoms and comorbidities in adult FLG mutation carriers.

Methods: This cross-sectional study included patients diagnosed with atopic dermatitis and/or hand eczema (n = 520).

Filaggrin gene loss-of-function mutations explain discordance of atopic dermatitis within dizygotic twin pairs.

Objectives: This study was designed to examine the association between loss-of-function mutations in the filaggrin gene (FLG) and atopic dermatitis (AD) and asthma in adult twins.

Methods: A previously well-characterized cohort of 575 adult twins were genotyped for the loss-of-function mutations in FLG (R501X, 2282del4 and R2447X) most common among northern Europeans. Subjects were examined for symptoms of atopic diseases as well as for lung function, airway responsiveness, and atopy.

Large D-Dimer Fluctuation in Normal Pregnancy: A Longitudinal Cohort Study of 4,117 Samples from 714 Healthy Danish Women.

Introduction. D-dimer levels increase throughout pregnancy, hampering the usefulness of the conventional threshold for dismissing thromboembolism. This study investigates the biological fluctuation of D-dimer in normal pregnancy.

Hepcidin levels are low during pregnancy and increase around delivery in women without iron deficiency - a prospective cohort study.

Objective: To investigate hepcidin during pregnancy, delivery and postpartum in women with sufficient iron supplementation.

Methods: Hepcidin was measured using LC-MS spectroscopy in 37 women during pregnancy, delivery and postpartum period in this longitudinal study.

Results: Hepcidin was low during pregnancy and increased at delivery and postpartum.

Postprandial prolactin suppression appears absent in antipsychotic-treated male patients.

Introduction: Hyperprolactinemia is a common side-effect of antipsychotic treatment. Antipsychotics and hyperprolactinemia are both considered risk factors of metabolic disturbances and diabetes. Investigations on prolactin response to meal ingestion in antipsychotic-treated patients are missing.

n-3 PUFA esterified to glycerol or as ethyl esters reduce non-fasting plasma triacylglycerol in subjects with hypertriglyceridemia: a randomized trial.

To date, treatment of hypertriglyceridemia with long-chain n-3 polyunsaturated fatty acids (n-3 PUFA) has been investigated solely in fasting and postprandial subjects. However, non-fasting triacylglycerols are more strongly associated with risk of cardiovascular disease. The objective of this study was to investigate the effect of long-chain n-3 PUFA on non-fasting triacylglycerol levels and to compare the effects of n-3 PUFA formulated as acylglycerol (AG-PUFA) or ethyl esters (EE-PUFA).

Glucometabolic hormones and cardiovascular risk markers in antipsychotic-treated patients.

Objective: Treatment with antipsychotic drugs is widely associated with metabolic side effects such as weight gain and disturbed glucose metabolism, but the pathophysiologic mechanisms are unclear.

Method: Fifty nondiabetic (fasting plasma glucose ≤ 7.0 mmol/L), antipsychotic-treated male patients (ICD-10 diagnosis code F20, F21, F22, F25, F28, or F60; mean ± SD age = 33.

Cancer antigen 125 after delivery in women with a normal pregnancy: a prospective cohort study.

Objective: To establish reference intervals for cancer antigen 125 (CA-125) in women with expected normal pregnancy, delivery, and early postpartum period.

Design: Prospective observational study.

Setting: Department of Clinical Biochemistry and Obstetrics, Copenhagen University Hospital, Gentofte, Denmark.

Associations of filaggrin gene loss-of-function variants and human papillomavirus-related cancer and pre-cancer in Danish adults.

Purpose: Filaggrin proteins are expressed in the skin, oral cavity, oesophagus, and cervical mucose. Loss-of-function mutations in the filaggrin gene (FLG) reduce filaggrin expression and cause an impaired skin barrier function. We hypothesized that FLG mutation carriers would be more susceptible to human papillomavirus (HPV) infection and thus a higher risk of HPV-related cancer and pre-cancer.