Hb Kalundborg [ß79(EF3)Asp→Glu; HBB: c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A1c Measurement.

A previously unknown hemoglobin (Hb) variant was detected during measurement of glycosylated Hb (Hb A1c) 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 ß-globin gene changing an amino acid [ß79(EF3)Asp→Glu; HBB: c.240C>A]. The new Hb variant was named Hb Kalundborg after the place of origin of the proband. Heterozygosity for this mutation appears to have no clinical significance in itself except for a possibly slightly lower oxygen affinity. However, it interferes with Hb A1c measurement by HPLC, causing a falsely high Hb A1c concentration when using the G11 apparatus with clinical implications possibly to follow.

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. Sensitivity was evaluated using 150 samples from individuals with asymptomatic, mild, or moderate COVID-19, nonhospitalized or hospitalized, confirmed by nucleic acid amplification tests (NAAT); samples were collected 13 to 73 days either from symptom onset or from positive NAAT (patients without symptoms). Specificity and cross-reactivity were evaluated in samples collected prior to the SARS-CoV-2 epidemic from >586 blood donors and patients with autoimmune diseases, cytomegalovirus or Epstein-Barr virus infections, and acute viral infections. A specificity of ≥99% was achieved by all total-Ab and IgG assays except one, DiaSorin Liaison XL IgG (97.2%). Sensitivities in descending order were Wantai ELISA total Ab (96.7%), CUH-NOVO in-house ELISA total Ab (96.0%), Ortho Vitros total Ab (95.3%), YHLO iFlash IgG (94.0%), Ortho Vitros IgG (93.3%), Siemens Atellica total Ab (93.2%), Roche Elecsys total Ab (92.7%), Abbott Architect IgG (90.0%), Abbott Alinity IgG (median 88.0%), DiaSorin Liaison XL IgG (median 84.6%), Siemens Vista total Ab (81.0%), Euroimmun/ELISA IgG (78.0%), and Snibe Maglumi IgG (median 78.0%). However, confidence intervals overlapped for several assays. The IgM results were variable, with the Wantai IgM ELISA showing the highest sensitivity (82.7%) and specificity (99%). The rate of seropositivity increased with time from symptom onset and symptom severity.

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. Newborns of environmental smokers are suggested to be smaller and shorter in weight, length, and head circumference. eNOS levels have not yet been studied in these infants. We investigated the existence of a relation between maternal environmental tobacco smoke exposure, eNOS activity, concentration, and birthweight. MATERIAL AND METHODS: We included 263 healthy singleton pregnancies categorized into three groups according to measured cotinine levels: 175 nonsmokers, 38 smokers, and 50 environmental smokers. Cotinine was quantified by mass spectrometry with a detection limit of .2 ng/mL; eNOS activity and concentration were measured in endothelial cells (ECs) of the umbilical vein. RESULTS: Infants born to environmental smokers had similar weights to infants born to nonsmokers (47 g heavier, P = .48). Cotinine concentrations were .06/.09/.12 ng/mL (quartiles) in infants born to nonsmokers, .27/.37/.81 ng/mL in infants born to women exposed to environmental tobacco smoke, and 43.0/63.8/108.1 ng/mL in infants born to smokers. The eNOS concentration was 1.65 ± .92 ng/106 ECs (mean ± SD) in nonsmokers and 1.71 ± 1.00 ng/106 ECs in environmental smokers. The eNOS activity was 52.0 ± 20.6 pmol l-citrulline/min/106 ECs in nonsmokers and 48.7 ± 19.8 pmol l-citrulline/min/106 ECs in environmental smokers. CONCLUSIONS: Infants born to environmental smokers, as judged by umbilical serum cotinine levels close to .2 ng/mL, are not associated with lower birthweight or reduced eNOS activity, or concentration in the fetal vascular bed.

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 1.8 million blood samples drawn between 2008 and 2015 from patients in the Capital region of Denmark. Plasma TG was extracted from a central clinical laboratory information system. Weekday variation was investigated by means of linear mixed models. In addition to the profound diurnal variation, the TG concentration was 4.5% lower on Fridays compared with Mondays (P < 0.0001). The variation persisted after multiple adjustments for confounders and was consistent across all sensitivity analyses. Out-patients and in-patients, respectively, had 5.0% and 1.9% lower TG concentrations on Fridays compared with Mondays (both P < 0.0001). The highest weekday variations in TG concentrations were recorded for out-patients between the ages of 9 and 26 years, with up to 20% higher values on Mondays compared with Fridays (all P < 0.05). In conclusion, TG concentrations were highest after the weekend and gradually declined during the week. We suggest that unhealthy food intake and reduced physical activity during the weekend increase TG concentrations which track into the week. This weekday variation may carry implications for public health and future research practice.

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). Patients completed questionnaires about dermatitis, skin symptoms, HRQoL, and comorbidities, including actinic keratosis, and atopic and mental disorders. RESULTS: FLG mutations (R501X, 2282del4, and R2447X) were identified in 16.9% of patients, and were significantly associated not only with atopic dermatitis, but also independently with skin fissures on the fingers and heels, and self-reported actinic keratosis. Although FLG mutations were significantly associated with reduced HRQoL, as measured by use of the Dermatology Life Quality Index (DLQI), no association with self-reported anxiety or depression was identified. Notably, the highest median DLQI score, reflecting greater impairment, was reported by patients with both FLG mutations and atopic dermatitis. Overall, 19.7% of patients with both atopic dermatitis and FLG mutations reported a 'large or extremely large' impact on their lives; this represents twice the prevalence seen in patients with atopic dermatitis and wild-type FLG (9.6%). CONCLUSION: Patients with both atopic dermatitis and common FLG mutations are more frequently affected by reduced HRQoL.

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. METHOD: Adult Danes from the general population (n = 3247) and patients with atopic dermatitis and/or hand eczema (n = 496) were genotyped for common FLG mutations, and completed a questionnaire about skin symptoms and hand eczema. Socioeconomic variables, including disability pension, and information on work in risk occupations were retrieved from national registries. The reasons for granting disability pension were unknown. RESULTS: Disability pension was associated with hand eczema in the general population, especially among individuals with a history of atopic dermatitis. Moreover, self-reported hand eczema and atopic dermatitis were associated with particularly high risk of disability pension among FLG mutation carriers [odds ratio (OR) 4.02 and 95% confidence interval (CI): 1.15-14.11; and OR 6.01 and 95%CI: 2.37-15.34, respectively]. Furthermore, 60% of the FLG mutation carriers with atopic dermatitis who developed hand eczema had experienced symptoms before adulthood. CONCLUSION: In the general population, self-reported hand eczema and atopic dermatitis, particularly in individuals with a genetically impaired skin barrier, were associated with disability pension, suggesting that FLG mutations carriers with a history of atopic dermatitis and hand eczema could benefit from early attention with respect to choice of occupation.

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. POPULATION: Eight hundred and one women with expected normal pregnancies were investigated. Of these, 640 delivered vaginally, 82 by emergency cesarean section, and 79 by elective cesarean section; 720 women had uncomplicated pregnancies. METHODS: Samples were collected at gestational weeks 13-20, 21-28, 29-34, 35-42, during labor, and on first and second day postpartum. Reference intervals were calculated for each gestational period as recommended by the International Federation of Clinical Chemistry and Laboratory Medicine. MAIN OUTCOME MEASURES: Concentration of serum CA-125 during the gestational period and around delivery. RESULTS: CA-125 was fairly stable below 35 U/mL during pregnancy but increased markedly during vaginal delivery, to a minor degree during emergency cesarean section, and only slightly during elective cesarean section. In the early postpartum period, CA-125 decreased with an apparent half-life of 24 h. CONCLUSIONS: The CA-125 cut-off value (<35 U/mL) used for non-pregnant women can be used for women during pregnancy after gestational week 13 as a supplement to ultrasound evaluation of ovarian cysts. The wide range of CA-125 concentration during normal pregnancies makes it unlikely that small fluctuations in CA-125 can be clinically useful for identifying other conditions. Measuring CA-125 around the time of delivery is not recommended. Gestational age-specific reference intervals during normal pregnancy are not needed.

Filaggrin compound heterozygous patients carry mutations in trans position.

More than 40 null mutations in the filaggrin (FLG) gene are described. It is therefore possible to find two different null mutations in one individual (compound heterozygosity). It has been generally perceived that homozygous and compound heterozygous individuals were genotypically comparable; however, this has not been scientifically investigated. Two different FLG null mutations in the same individual may be in trans position, meaning that each mutation locates to a different allele functionally equivalent to homozygosity, or may be in cis position, meaning that both mutations locate to the same allele functionally equivalent to heterozygosity. To experimentally investigate allelic in cis versus in trans configuration of the two most common filaggrin (FLG) mutations (R501X and 2282del4) in compound heterozygous individuals. Testing for in cis or in trans allele configuration was performed by means of allele-specific PCR amplification and analysis of PCR products by agarose gel electrophoresis. All R501X/2282del4 compound heterozygous samples collected over a 4-year period of routine FLG mutation testing were investigated. In total, 37 samples were tested. All thirty-seven R501X/2282del4 compound heterozygous individuals were found to carry the two mutations in trans position. FLG null mutation compound heterozygous individuals can be considered functionally equivalent to FLG null mutation homozygosity for any of the two mutations.

Comparison of immunoglobulin E measurements on IMMULITE and ImmunoCAP in samples consisting of allergen-specific mouse-human chimeric monoclonal antibodies towards allergen extracts and four recombinant allergens.

BACKGROUND: Specific immunoglobulin E (IgE) antibody in vitro tests are performed on enzyme immunoassay systems. Poor agreement among systems has been reported and comparisons have been made exclusively with allergen extracts - not with recombinant allergens. Here we compare the ImmunoCAP and the IMMULITE systems. METHODS: Ten patient samples with positive IgE toward egg white, birch pollen or cat or dog dander were compared using allergen extracts or the recombinant allergens Gal d 1, Bet v 1, Fel d 1 and Can f 1 with the two assay systems. Comparisons were also performed using four monoclonal mouse-human chimeric IgE antibodies specific for the same allergenic components. RESULTS: IMMULITE estimated a higher allergen-specific IgE concentration in sera than ImmunoCAP when testing with allergen extracts as well as recombinant allergens. The chimeric antibodies gave an equivalent response in the total IgE and specific IgE (sIgE) with an average ratio of 1.08 (range 0.9-1.3) on ImmunoCAP. In contrast, IMMULITE exhibited sIgE signals that were substantially higher than the summed level of IgE for all four chimeric antibodies (average ratio 2.96 and range 1.7-4.3). CONCLUSION: Comparison using chimeric antibodies allowed the evaluation of the true performance of the systems. ImmunoCAP measured total IgE and sIgE equally, whereas IMMULITE displayed higher sIgE signals when compared to the summed level of total IgE for all four chimeric antibodies. Results obtained with the two assay systems are not interchangeable by means of mathematical conversion.

Association between loss-of-function mutations in the filaggrin gene and self-reported food allergy and alcohol sensitivity.

BACKGROUND: Loss-of-function mutations of the filaggrin (FLG) gene cause an impaired skin barrier and increase the risk of atopic dermatitis. Interestingly, FLG mutations have also been found to be associated with a high risk of peanut allergy. OBJECTIVE: We investigated the association of FLG mutations with self-reported food allergy, symptoms of oral allergy syndrome (OAS), and alcohol sensitivity. METHODS: A total of 3,471 adults from the general population participated in a health examination. Information on food allergies, OAS and alcohol sensitivity was obtained by questionnaire. FLG mutation carriers were defined as having at least one null mutation allele of R501X or 2282del4. Primary lactose intolerance (PLI) was defined as the C/C genotype of the rs4988235 polymorphism. RESULTS: FLG mutations were associated with a higher risk of self-reported allergy to eggs (OR 3.22 and 95% CI 1.46-7.11), milk (OR 2.10 and 95% CI 1.12-3.92), fish (OR 4.54 and 95% CI 1.88-10.96) and wheat (OR 3.59 and 95% CI 1.61-8.02), but not with symptoms of OAS (OR 1.05 and 95% CI 0.73-1.51). Serum-specific IgE was measured in a subsample and confirmed the association between FLG and IgE to milk. A significant gene-by-gene interaction between FLG and PLI was observed in relation to self-reported allergy to milk. Furthermore, FLG mutations were associated with a higher risk of alcohol sensitivity. CONCLUSIONS: We found that loss-of-function mutations in the FLG gene were significantly associated with self-reported food allergy and alcohol sensitivity, but not with OAS. These findings, if confirmed, support the idea that skin barrier functions may be involved in the pathogenesis of food allergy.

Filaggrin mutations are strongly associated with contact sensitization in individuals with dermatitis.

BACKGROUND: Although heterozygous filaggrin gene (FLG) mutation carriers seem to have an increased risk of atopic, irritant and allergic nickel dermatitis, it remains unclear whether the risk of contact sensitization to allergens other than nickel is also elevated in FLG mutation carriers. OBJECTIVES: We hypothesized that heterozygous FLG mutation carriers who suffer from dermatitis will have strongly reduced or even absent filaggrin levels during episodes of inflammation, potentially increasing the penetration of contact allergens, and hence the risk of becoming sensitized. MATERIALS AND METHODS: During 2006-2008, 3335 randomly invited 18-69-year-old adult Danes participated in a general health examination, filled out a questionnaire, and were genotyped for the R501X and 2282del4 mutations in FLG. RESULTS: A logistic regression analysis restricted to individuals who reported atopic dermatitis and frequent episodes of hand eczema showed a strong association between FLG mutations and contact sensitization to allergens other than nickel (odds ratio 5.71; 95% confidence interval 1.31-24.94). In participants without dermatitis, no association was found between contact sensitization and FLG mutations. CONCLUSION: FLG mutation carriers with self-reported dermatitis have an increased risk of contact sensitization to substances other than nickel, whereas FLG mutations alone may not, or may only slightly, increase the risk of sensitization.

Carriers of filaggrin gene (FLG) mutations avoid professional exposure to irritants in adulthood.

BACKGROUND: Loss-of-function mutations in the filaggrin gene (FLG) are associated with xerosis, atopic dermatitis, and early onset of hand eczema. Irritant exposure is a risk factor for occupational hand eczema, and FLG mutations increase the risk of occupational irritant contact dermatitis on the hands in hospital cohorts. It is unknown whether FLG mutations affect the level of irritant exposure. OBJECTIVES: To evaluate whether exposure to occupational irritants was dependent on FLG mutations, atopic dermatitis, and age at hand eczema onset. METHODS: Randomly chosen Danish adults completed a questionnaire on general health and occupational exposures. Genotyping for FLG mutations (R501X, 2282del4, and R2447X) and patch testing were performed. RESULTS: Overall, 38.7% of subjects reported present or previous occupational exposure to irritants. Among individuals who reported hand eczema onset before entering their work life, 50.6% (45/89) of FLG non-mutation carriers became exposed to irritants, as compared with 28.6% (4/14) of heterozygous and 0% (0/6) of homozygous mutation carriers (p = 0.006). Avoidance was conspicuous among mutation carriers reporting childhood hand eczema and atopic dermatitis (odds ratio 0.08, 95% confidence interval 0.01-0.65). CONCLUSIONS: Carriers of FLG mutations who have had hand eczema onset in childhood avoid occupational exposure to irritants; the association is most marked with homozygous mutation status combined with atopic dermatitis.

Effect of industrially produced trans fat on markers of systemic inflammation: evidence from a randomized trial in women.

Consumption of industrially produced trans fatty acids (IP-TFA) has been positively associated with systemic markers of low-grade inflammation and endothelial dysfunction in cross-sectional studies, but results from intervention studies are inconclusive. Therefore, we conducted a 16 week double-blind parallel intervention study with the objective to examine the effect of IP-TFA intake on biomarkers of inflammation, oxidative stress, and endothelial dysfunction. Fifty-two healthy overweight postmenopausal women (49 completers) were randomly assigned to receive either partially hydrogenated soybean oil (15.7 g/day IP-TFA) or control oil without IP-TFA. After 16 weeks, IP-TFA intake increased baseline-adjusted serum tumor necrosis factor (TNF) α by 12% [95% confidence interval (CI): 5-20; P = 0.002] more in the IP-TFA group compared with controls. Plasma soluble TNF receptors 1 and 2 were also increased by IP-TFA [155 pg/ml (CI: 63-247); P < 0.001 and 480 pg/ml (CI: 72-887); P = 0.02, respectively]. Serum C-reactive protein, interleukin (IL) 6 and adiponectin and subcutaneous abdominal adipose tissue mRNA expression of IL6, IL8, TNFα, and adiponectin as well as ceramide content were not affected by IP-TFA, nor was urinary 8-iso-prostaglandin-F(2α). In conclusion, this dietary trial indicates that the mechanisms linking dietary IP-TFA to cardiovascular disease may involve activation of the TNFα system.

An evaluation of the interference of hydroxycobalamin with chemistry and co-oximetry tests on nine commonly used instruments.

The administration of hydroxocobalamin (OHCob), alone or with sodium thiosulfate, is a standard therapy for cyanide poisoning. OHCob is a red chromophore, and its interference with co-oximetric and colorimetric laboratory measurements has been evaluated in a few conflicting reports. The interference of OHCob was investigated in samples spiked with 10 different concentrations of OHCob (0-1500 mg/L). The concentration of 73 different analytes was measured using nine different analysers (ABL 800 Flex, Advia 1800, Advia Centaur Xp, Architect ci8200, Immulite 2500, Konelab 30i, Modular Analytics SWA, Synchron LX 20 and Vitros 5.1). All instruments yielded some results that were affected by OHCob at concentrations equivalent to a single therapeutic dose. Of the 73 different analytes, 64% showed interference on at least one instrument. Of all 187 tests performed, 47% were biased with more than 10%. Interference was generally limited to photometric assays, whereas immunological and ion-selective electrode measurements were unaffected. OHCob present in the blood after treatment for cyanide poisoning interfered with many laboratory assays in an unpredictable way, making some results invalid. Some affected tests are important in the treatment of cyanide poisoning. The interference is not solely due to wavelength, but also to chemical interaction. Without delaying the administration of OHCob, blood should, preferably, be drawn in advance, or, at least, the laboratory should be informed about the OHCob treatment. If the laboratory receives OHCob-containing samples, methods and instruments should be selected to minimize bias, and the manufacturer of the OHCob should recommend relevant precautions to customers in the package insert.

Nickel reactivity and filaggrin null mutations--evaluation of the filaggrin bypass theory in a general population.

BACKGROUND: It was recently shown that filaggrin null mutation carrier status was associated with nickel allergy and self-reported intolerance to costume jewellery. Because of the biochemical characteristics of filaggrin, it may show nickel barrier properties in the stratum corneum. OBJECTIVES: To investigate whether subjects with filaggrin null mutations report nickel dermatitis at an earlier age than wild-type individuals, and to analyse whether null mutation carriers have stronger patch test reactivity to nickel sulfate than do wild-type individuals. MATERIALS: A total of 3471 Danes (18-69 years of age) answered a questionnaire about general health, and underwent patch testing and filaggrin genotyping. RESULTS: The mean number of years at risk of developing nickel dermatitis was significantly lower for the filaggrin null genotype than for the wild-type genotype when ear piercing status was considered. In positive patch test readings, the proportion of null mutants increased with increasing reaction strength. CONCLUSIONS: Filaggrin null mutations may lower the age of onset of nickel dermatitis. The hypothesis that ear piercings obscure the effect of filaggrin null mutations on the development of nickel allergy in statistical analyses was supported. An association between the null genotype and increased nickel sensitivity was indicated by patch test reading and questionnaire data.

Laboratory reference intervals during pregnancy, delivery and the early postpartum period.

BACKGROUND: Physiological changes during pregnancy may affect laboratory parameters. Reference values based on samples from non-pregnant women are not necessarily useful for clinical decisions during pregnancy. There is a need to establish reference values during pregnancy in order to recognize pathological conditions. METHODS: Eight hundred and one women with expected normal pregnancies were included in the study. Of these, 391 had no complications during pregnancy, delivery, or the early postpartum period. Blood samples were obtained at gestational weeks 13-20, 21-28, 29-34, 35-42, at labor, and 1 and 2 days postpartum. Reference intervals were calculated for 36 tests as recommended by the International Federation of Clinical Chemistry and Laboratory Medicine. RESULTS: Many tests showed such large variations indicating that gestational age-specific reference intervals were necessary. Other tests had different but stable values when compared to non-pregnant women. A minor decrease in albumin levels was observed. This was not only due to pregnancy-associated hemodilution, since other components with the same or a larger molecular diameter did not show a similar decrease. Many tests exhibited a broad distribution around vaginal delivery and in the early postpartum period. CONCLUSIONS: Only a few parameters were unaffected during uncomplicated pregnancy, delivery, and the early postpartum period suggesting that implementation of gestational age-specific reference intervals is necessary.

Filaggrin null mutations and association with contact allergy and allergic contact dermatitis: results from a tertiary dermatology clinic.

BACKGROUND: Filaggrin null (FLG) mutations lead to skin barrier disruption with a reduced resistance towards exogenous agents and also influence the course of disease in atopic dermatitis. OBJECTIVES: To examine the association between FLG mutations and contact allergy, polysensitization, hand eczema at first appearance of disease, occurrence, and course of dermatitis. METHODS: A venous blood sample from 430 individuals was genotyped for FLG mutations R501X and 2282del4 with polymerase chain reaction followed by typing through hybridization to paramagnetic polystyrene beads and analysis on a BioPlex 200. All individuals had a minimum of one positive patch test reaction. RESULTS: In all, 3.5% were 2282del4 heterozygote and 5.1% were R501X heterozygote. An odds ratio (OR) of 1.49 [95% confidence interval (CI) 0.74-3.00] was found for nickel allergy, OR 0.84 (95% CI 0.41-1.74) for polysensitization, OR 0.78 (95% CI 0.25-2.43) for dermatitis, OR 0.96 (95% CI 0.48-1.92) for hand eczema at debut, OR 1.25 (95% CI 0.99-1.57) for duration of disease, and OR 0.76 (95% CI 0.59-0.97) for age at onset. CONCLUSIONS: No association between nickel allergy, polysensitization, hand eczema at first appearance or occurrence of dermatitis, and FLG mutations was found. However, patients with FLG mutations had an earlier age of onset compared with the wild-type genotype and a trend towards longer duration of disease.

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. However, no easy and accessible tool for self-assessing neonatal jaundice is currently available. Smartphones could potentially be transformed into a medical device that could be used by both patients and practitioners. OBJECTIVE: To investigate whether a digital image produced by a camera embedded on a smartphone can be a used as a screening tool for neonatal hyperbilirubinemia. STUDY DESIGN: A total of 64 randomly selected newborns were enrolled. The inclusion criteria were healthy Caucasians, gestational age >35 weeks, age >24 hours and ≤14 days old, and parental informed consent. The exclusion criteria were facial skin lesions and light treatment. Images of the glabella were obtained with an iPhone 6 via i) directly applied pressure, ii) a dermatoscope, or iii) a dermatoscope equipped with a Wratten No. 11 filter. The red, green and blue colour intensities of each image were compared to bilirubin levels. RESULTS: Only the dermatoscope-acquired intensities of the green and blue channels were significantly correlated (p < 0.001) with bilirubin measurements (Pearson's r: 0.59 and 0.48, respectively). For the green and blue channels, discrimination limits of 212 and 190, respectively, revealed a sensitivity and specificity of 100% and 62.5%, respectively, for green and 90.9% and 60%, respectively, for blue for a plasma bilirubin above 205 µmol/L. CONCLUSIONS: The results of this study indicate that a smartphone equipped with a consistent light source in the form of a dermatoscope may be a simple screening tool for neonatal hyperbilirubinemia. However, the method requires some improvement before clinical application.