History, Implementation and Current Use of the IFCC-IUPAC's Nomenclature for Properties and Units (NPU) Terminology in Denmark, Norway and Sweden.

Electronic exchange of health care data demands code/terminology systems. In the Scandinavian countries, the IFCC-IUPAC's Nomenclature for Properties and Units (NPU) terminology is used for results in biochemistry, pharmacology, and immunology. Implementation, use and administration of NPU has differed between the countries despite similar health care and lab sectors.

Elevated expression of Aurora-A/AURKA in breast cancer associates with younger age and aggressive features.

Background And Objective: Aurora kinase A (AURKA) is reported to be overexpressed in breast cancer. In addition to its role in regulating cell cycle and mitosis, studies have reported AURKA involvements in oncogenic signaling in suppressing BRCA1 and BRCA2. We aimed to characterize AURKA protein and mRNA expression in a breast cancer cohort of the young, investigating its relation to clinico-pathologic features and survival, and exploring age-related AURKA-associated biological processes.

Age-Related Clusters and Favorable Immune Phenotypes in Young Breast Cancer Patients.

Breast cancer (BC) patients aged <40 years at diagnosis experience aggressive disease and poorer survival compared with women diagnosed with BC at 40 to 49 years, but the age-related biology is described to little extent. Here, we explored transcriptional alterations in BC to gain better understanding of age-related tumor biology. We studied a subset of the Bergen in-house cohort (n = 127; age range, 26-49 years) and used the NanoString Breast Cancer 360 expression panel on formalin-fixed paraffin-embedded BC tissue, and publicly available global BC messenger RNA expression data (n = 204; age range, 22-49 years), to explore differentially expressed genes between the young (age <40 years) and older (age 40-49 years) patients.

Changes in electrodermal activity following sympathicotomy in hyperhidrosis patients.

Objectives: The aim of this study was to assess the potential of electrodermal activity (EDA) as a diagnostic tool for preoperative evaluation in hyperhidrosis patients. EDA levels and patterns in different skin areas were investigated before and after endoscopic thoracic sympathicotomy (ETS) and was compared to healthy subjects.

Methods: Thirty-seven patients underwent two days of measurements before and after the operation.

Haemochromatosis patients' research priorities: Towards an improved quality of life.

Background: Chronic diseases are associated with a range of functional and psychosocial consequences that can adversely affect patients' quality of life (QoL). Haemochromatosis (HC) is a genetically heterogeneous disorder characterized by chronic iron overload that can ultimately lead to multiple organ dysfunction. Clinical diagnosis remains challenging due to the nonspecificity of symptoms and a lack of confirmatory genotyping in a substantial proportion of patients.

Does cardiovascular autonomic dysfunction contribute to fatigue in myasthenia gravis?

Myasthenia gravis (MG) is an autoimmune disease characterized by fatigable muscle weakness. Despite full spontaneous or pharmacological remission some MG patients still complain of physical and mental fatigue. Fatigue has been related to autonomic dysregulation.

Characterization of porphobilinogen deaminase mutants reveals that arginine-173 is crucial for polypyrrole elongation mechanism.

Porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthesis, catalyzes the sequential coupling of four porphobilinogen (PBG) molecules into a heme precursor. Mutations in PBGD are associated with acute intermittent porphyria (AIP), a rare metabolic disorder. We used Fourier transform ion cyclotron resonance mass spectrometry (FT-ICR MS) to demonstrate that wild-type PBGD and AIP-associated mutant R167W both existed as holoenzymes (E) covalently attached to the dipyrromethane cofactor, and three intermediate complexes, ES, ES, and ES, where S represents PBG.

Pathologic Blood Samples Tolerate Exposure to Vibration and High Turbulence in Simulated Drone Flights, but Plasma Samples Should be Centrifuged After Flight.

Objective: Most of the previous studies of drone transport of blood samples examined normal blood samples transported under tranquil air conditions. We studied the effects of 1- and 2-hour drone flights using random vibration and turbulence simulation (10-30 g-force) on blood samples from 16 healthy volunteers and 74 patients with varying diseased.

Methods: Thirty-two of the most common analytes were tested.

Rapid, Large, and Synchronous Sweat and Cardiovascular Responses Upon Minor Stimuli in Healthy Subjects. Dynamics and Reproducibility.

The aim of the study was to investigate steady state levels, dynamics and reproducibility of cardiovascular variables and electrodermal activity in different skin areas in response to minor physiological and mental stimuli in healthy subjects in the thermoneutral zone, carried out in high time resolution. Thirteen healthy subjects underwent experiments on two separate days. Non-invasive electrodermal activity in five different skin areas was measured continuously using a skin conductance method, including resting supine and sitting positions, performing deep inspirations, a mental challenge and being exposed to a sudden loud sound.

A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria.

Mutations in hydroxymethylbilane synthase (HMBS) cause acute intermittent porphyria (AIP), an autosomal dominant disease where typically only one HMBS allele is mutated. In AIP, the accumulation of porphyrin precursors triggers life-threatening neurovisceral attacks and at long-term, entails an increased risk of hepatocellular carcinoma, kidney failure, and hypertension. Today, the only cure is liver transplantation, and a need for effective mechanism-based therapies, such as pharmacological chaperones, is prevailing.

Microcirculation and haemodynamics after infraclavicular brachial plexus block using adrenaline as an adjuvant to lidocaine: a randomised, double-blind, crossover study in healthy volunteers.

We evaluated the effect of adrenaline on human skin microcirculation (nutritive and sub-papillary) and systemic cardiovascular variables after it was added to lidocaine in infraclavicular brachial plexus blocks. Twelve healthy, non-smoking male volunteers were included, each attending two study sessions 2 weeks apart, and they were studied using a crossover design. In both sessions, they received an ultrasound-guided infraclavicular brachial plexus block in the non-dominant arm with 0.

Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype.

Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training.

Automated alarm to detect antigen excess in serum free immunoglobulin light chain kappa and lambda assays.

Background: Antigen excess causing a falsely low concentration result may occur when measuring serum free immunoglobulin light chains (SFLC). Automated antigen excess detection methods are available only with some analyzers. We have now developed and verified such a method.

The importance of the general practitioner as an information source for patients with hereditary haemochromatosis.

Objective: To explore hereditary haemochromatosis (HH) patients' perspectives on genetic information, namely the types of sources used, preferred or trusted.

Methods: A survey online was conducted by the European Federation of Associations of Patients with Haemochromatosis (EFAPH) and applied to members of nine National Associations.

Results: From a total of 1019 validated questionnaires, 895 respondents had performed a genetic testing for HH.

Dysfunctional arteriovenous anastomoses in hands of systemic sclerosis patients with digital ulcers.

Objectives: Previous studies indicate that the arteriovenous anastomoses (AVAs) and the arterioles with the nutritive flow are involved in the pathophysiologic process disturbing hand blood flow in systemic sclerosis (SSc). However, impact of different part of the microvascular system involved in digital ulcers (DU) is not well known. Here, we aimed to assess the vasomotor activity of the AVAs in the hands of patients with and without DU in SSc.

Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.

The autosomal dominantly inherited disease AIP (acute intermittent porphyria) is caused by mutations in HMBS [hydroxymethylbilane synthase; also known as PBG (porphobilinogen) deaminase], the third enzyme in the haem biosynthesis pathway. Enzyme-intermediates with increasing number of PBG molecules are formed during the catalysis of HMBS. In this work, we studied the two uncharacterized mutants K132N and V215E comparative with wt (wild-type) HMBS and to the previously reported AIP-associated mutants R116W, R167W and R173W.

Changes in blood pressure during healthy pregnancy: a longitudinal cohort study.

Objective: To study longitudinally changes in blood pressure (BP) and heart rate (HR) during healthy pregnancies and to evaluate the influence of parity, pregestational overweight, and excessive weight gain.

Methods: A prospective longitudinal cohort study of 57 healthy white women with singleton pregnancies. BP and HR were measured repeatedly at gestational age 14-16 weeks, 22-24 weeks, 30-32 weeks, 36 weeks, and 6 months postpartum using both an oscillometric measurement device (Dinamap) and finger arterial pressure (Finometer PRO).

Changes in pulmonary function during pregnancy: a longitudinal cohort study.

Objective: To record any physiological changes in lung function during healthy pregnancies, and evaluate the influence of parity, pregestational overweight, and excessive weight gain.

Design: Longitudinal cohort study.

Setting: Antenatal clinic at Oslo University Hospital.

Does venous insufficiency impair the exercise-induced rise in arterial leg blood flow?

Objectives: It has been shown that the leg muscle pump increases the immediate rise in arterial leg blood flow during upright exercise in healthy subjects. The present study is the first to investigate the muscle pump effect in exercise hyperaemia in patients with venous insufficiency, who should be lacking an optimally functioning muscle pump.

Methods: Any muscle pump effect is more pronounced in an upright position because of gravitation.

Low-frequency fluctuations in heart rate, cardiac output and mean arterial pressure in humans: what are the physiological relationships?

Objective: Cardiovascular variability is a complex physiological phenomenon associated with the outcome of cardiovascular diseases. Blood pressure oscillations may cause cardiovascular complications, which, however, are also claimed to have antihypertensive effects. The physiological understanding is limited.

Does the great saphenous vein stripping improve arterial leg blood flow during exercise?

Objectives: It has been shown that the leg muscle pump increases arterial leg blood flow during upright exercise in healthy subjects, and that this effect is reduced in patients with incompetence of the great saphenous vein (GSV). In this study, patients with GSV reflux causing varicose veins were investigated after GSV stripping, to see whether the muscle pump effect on arterial leg blood flow is improved.

Design: Prospective case study.

Handgrip contraction induces a linear increase in arterial pressure by peripheral vasoconstriction, increased heart rate and a decrease in stroke volume.

Aim: The hypothesis that isometric handgrip induces a progressive increase in arterial pressure and a linear increase in setpoint for arterial pressure control was tested.

Methods: The continuous time course of changes in heart rate (HR), stroke volume (SV) and mean arterial pressure (MAP) was recorded during a 2-min handgrip contraction of 40% of maximal voluntary contraction force. Twice during the development of the handgrip-induced, gradual pressure increase of ∼25 mmHg, additional, transient changes in arterial pressure were mechanically induced.

Retrograde arterial leg blood flow during tilt-back from a head-up posture: importance of capacitive flows when arterial pressure changes.

The windkessel function of the arterial system converts the intermittent action of the heart into more continuous microcirculatory blood flow during diastole via the return of elastic energy stored in the walls of the arteries during systole. Might the same phenomenon occur regionally within the arterial system during tilting owing to regional differences in local arterial pressure imposed by gravity? We sought to test the hypothesis that during tilt-back from a head-up posture, the return of stored elastic energy in leg arteries would work to slow, or perhaps transiently reverse, the flow of blood in the femoral artery. Femoral artery blood flow and arterial pressure were recorded during tilt back from a 30 degrees head-up posture to supine (approximately 0.

Role of sympathetic responses on the hemodynamic consequences of rapid changes in posture in humans.

Tolerance to +G(z) gravitational stress is reduced when +G(z) stress is preceded by exposure to hypogravity (fractional, 0, or negative G(z)). For example, there is an exaggerated fall in eye-level arterial pressure (ELAP) early on during +G(z) stress (head-up tilt; HUT) when this stress is immediately preceded by -G(z) stress (head-down tilt; HDT), termed the "push-pull effect." The aim of the present study was to test the hypothesis that sympathetic responses contribute to the push-pull effect.