Fritz Kauffmann: innovator in microbial classification.

Fritz Kauffmann (1899-1978) was a German/Danish microbiologist, who worked most of his years studying intestinal bacteria at Statens Serum Institut in Denmark. During his research, he implemented several diagnostic tools, which are still used in reference laboratories worldwide. Kauffmann was probably most known for developing the "Kauffmann-White scheme" based on the O- and flagella antigens on the surface of Salmonella.

A high polygenic risk score is associated with SSA/SSB antibody positivity and early onset in primary Sjögren's disease.

Objectives: To calculate a polygenic risk score (PRS) based on single nucleotide variants (SNVs) previously associated with primary Sjögren's disease (SjD) with genome-wide significance, and determine the genetic risk for SjD stratified by antibodies, sex and age at diagnosis.

Methods: Patients with SjD (n = 1065) were genotyped using Illumina OmniExpressExome chip. Control genotype data were available (n = 7742).

Random Pure Gaussian States and Hawking Radiation.

A black hole evaporates by Hawking radiation. Each mode of that radiation is thermal. If the total state is nevertheless to be pure, modes must be entangled.

Immune cell activity during anti-TNF treatment in patients with psoriasis and psoriatic arthritis.

Psoriasis is a chronic, inflammatory skin disease characterized by a dysregulated immune response and systemic inflammation. Up to one-third of patients with psoriasis have psoriatic arthritis (PsA). Targeted treatment with antibodies neutralizing tumor necrosis factor can ameliorate both diseases.

Variants in the autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland.

Fine mapping and bioinformatic analysis of the genetic risk association in Sjögren's Disease (SjD) and Systemic Lupus Erythematosus (SLE) identified five common SNPs with functional evidence in immune cell types: rs4938573, rs57494551, rs4938572, rs4936443, rs7117261. Functional interrogation of nuclear protein binding affinity, enhancer/promoter regulatory activity, and chromatin-chromatin interactions in immune, salivary gland epithelial, and kidney epithelial cells revealed cell type-specific allelic effects for all five SNPs that expanded regulation beyond effects on and expression. Mapping the local chromatin regulatory network revealed several additional genes of interest, including .

Albanian Health Promotion Model: a health perspective for Western Balkan countries.

This article proposes a mixed-blended model adapted for Western Balkan countries, advancing the connections between the Icelandic Model of Health Promotion and the assets models for health improvement through the whole school approach and non-formal education methodology. The need to reshape health promotion interventions in Western Balkan countries is urgent, and requires explicit synergies so that a more coherent approach can be taken in their utilization. To this end, we propose a new Albanian Health Promotion Model that integrates key concepts that are associated with the involvement of schoolchildren; parents/caregivers, grandparents, communities, and religious leaders; teachers and school staff; involvement of central and local governments; engagement of the private sector; involvement of non-governmental and civil society organizations; and, importantly, enables the development of supportive environments.

The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population.

Objective: The antineutrophil cytoplasmic antibody (ANCA)-associated vasculitides (AAV) are inflammatory disorders with ANCA autoantibodies recognising either proteinase 3 (PR3-AAV) or myeloperoxidase (MPO-AAV). PR3-AAV and MPO-AAV have been associated with distinct loci in the human leucocyte antigen (HLA) region. While the association between MPO-AAV and HLA has been well characterised in East Asian populations where MPO-AAV is more common, studies in populations of European descent are limited.

Biological treatment in severe psoriasis: Influence on peripheral blood dendritic cells.

In-depth immunophenotyping by flow cytometry of peripheral blood dendritic cell (DC) populations of psoriasis vulgaris without (PsO; N = 23) or with psoriatic arthritis (PsA; N = 15), before (T1) and after 12 months (T2) therapy with the anti-TNF drugs infliximab, etanercept, the anti-IL-17A secukinumab and the anti-IL12/IL-23 ustekinumab. Compared to healthy donors (N = 38), patients with PsA displayed lower frequencies of dendritic cell subsets pDC, cDC1 and cDC2, which were normalized following treatment except pDC. In contrast, patients with PsO only displayed lower frequencies of pDC which were normalized following treatment.

Aggregative adherence fimbriae form compact structures as seen by SAXS.

Bacterial colonization is mediated by fimbriae, which are thin hair-like appendages dispersed from the bacterial surface. The aggregative adherence fimbriae from enteroaggregative E. coli are secreted through the outer membrane and consist of polymerized minor and major pilin subunits.

Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis.

Objective: To identify and genetically characterize subgroups of patients with ANCA-associated vasculitides (AAV) based on sex and ANCA subtype.

Methods: A previously established SNP dataset derived from DNA sequencing of 1853 genes and genotyping of 1088 Scandinavian cases with AAV and 1589 controls was stratified for sex and ANCA subtype and analysed for association with five top AAV SNPs. rs9274619, a lead variant at the HLA-DQB1/HLA-DQA2 locus previously associated with AAV positive for myeloperoxidase (MPO)-ANCA, was analysed for association with the cumulative disease involvement of ten different organ systems.

Identification of new candidate drugs for primary Sjögren's syndrome using a drug repurposing transcriptomic approach.

Objectives: To date, no immunomodulatory drug has demonstrated its efficacy in primary SS (pSS). We sought to analyse potential commonalities between pSS transcriptomic signatures and signatures of various drugs or specific knock-in or knock-down genes.

Methods: Gene expression from peripheral blood samples of patients with pSS was compared with that of healthy controls in two cohorts and three public databases.

Aberrant signaling of immune cells in Sjögren's syndrome patient subgroups upon interferon stimulation.

Background: Primary Sjögren's syndrome (pSS) is a systemic autoimmune disease, characterized by mononuclear cell infiltrates in the salivary and lacrimal glands, leading to glandular atrophy and dryness. Patient heterogeneity and lack of knowledge regarding its pathogenesis makes pSS a difficult disease to manage.

Methods: An exploratory analysis using mass cytometry was conducted of MAPK/ERK and JAK/STAT signaling pathways in peripheral blood mononuclear cells (PBMC) from 16 female medication free pSS patients (8 anti-Sjögren's syndrome-related antigen A negative/SSA- and 8 SSA+) and 8 female age-matched healthy donors after stimulation with interferons (IFNs).

Biomarkers of inflammation and left ventricular remodelling in psoriasis patients treated with infliximab.

Psoriasis is an immune mediated disorder associated with T cell activation and cardiovascular disease (CVD). We explored the association of inflammation with left ventricular (LV) remodelling in psoriasis patients receiving treatment with the tumour necrosis factor-α (TNF-α) blocker infliximab. Psoriasis patients ( = 47, age 47 ± 14 years, 66% men) and 99 control subjects without psoriasis (age 47 ± 11 years, 72% men) were examined by echocardiography in a cross-sectional study.

Persisting speech difficulties at 7-8 years of age - a longitudinal study of speech production in internationally adopted children with cleft lip and palate.

Aim: To longitudinally investigate speech production (consonant proficiency, consonant errors and perceived velopharyngeal competence) in 17 internationally adopted (IA) children with unilateral cleft lip and palate (UCLP) at three time points.

Method: Consonant proficiency (percent consonants correct, consonant inventory) and number and type of consonant errors were calculated based on blind phonetic transcriptions of words from the Swedish Test of Articulation and Nasality (SVANTE). Velopharyngeal competence was perceptually rated by three blinded experienced speech-language pathologists at the ages of 3, 5 and 7-8 years.

A validation study of the Swedish version of the Glasgow hearing aid benefit profile evaluated in otosclerosis subjects.

Objectives: The aim of this study was to translate the Glasgow Benefit Hearing Aid Profile (GHABP) to Swedish, and to analyze its validity and reliability in patients undergoing rehabilitation with surgery or hearing aids.

Methods: The GHABP was translated to Swedish following published guidelines. One version of the questionnaire was adapted to fit the surgical intervention.

Strong Association of Combined Genetic Deficiencies in the Classical Complement Pathway With Risk of Systemic Lupus Erythematosus and Primary Sjögren's Syndrome.

Objective: Complete genetic deficiency of the complement component C2 is a strong risk factor for monogenic systemic lupus erythematosus (SLE), but whether heterozygous C2 deficiency adds to the risk of SLE or primary Sjögren's syndrome (SS) has not been studied systematically. This study was undertaken to investigate potential associations of heterozygous C2 deficiency and C4 copy number variation with clinical manifestations in patients with SLE and patients with primary SS.

Methods: The presence of the common 28-bp C2 deletion rs9332736 and C4 copy number variation was examined in Scandinavian patients who had received a diagnosis of SLE (n = 958) or primary SS (n = 911) and in 2,262 healthy controls through the use of DNA sequencing.

Variability of Primary Sjögren's Syndrome Is Driven by Interferon-α and Interferon-α Blood Levels Are Associated With the Class II HLA-DQ Locus.

Objective: Primary Sjögren's syndrome (SS) is the second most frequent systemic autoimmune disease, affecting 0.1% of the general population. To characterize the molecular and clinical variabilities among patients with primary SS, we integrated transcriptomic, proteomic, cellular, and genetic data with clinical phenotypes in a cohort of 351 patients with primary SS.

Impaired activation of STAT5 upon IL-2 stimulation in Tregs and elevated sIL-2R in Sjögren's syndrome.

Background: Interleukin-2 (IL-2) and the high-affinity IL-2 receptor (IL-2R) are essential for the survival of regulatory T cells (Tregs) which are the main players in immune tolerance and prevention of autoimmune diseases. Sjögren's syndrome (SS) is a chronic autoimmune disease predominantly affecting women and is characterised by sicca symptoms including oral and ocular dryness. The aim of this study was to investigate an association between IL-2R and Treg function in patients with SS of different severity defined by the salivary flow rate.

Tinnitus in immigrants attending Swedish language education classes.

Objectives: The aim of this study was to investigate the prevalence of tinnitus in immigrants attending Swedish language education classes in comparison with data from the general population and tinnitus's relation to hearing in this specific population.

Methods: The study was based on prospectively collected data regarding hearing and health status in newcomers attending language classes. The examination consisted of pure tone audiometry, an otoscopic examination, and a study-specific questionnaire including questions from the Swedish National Health Survey.

Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases.

Objective: Copy number variation of the C4 complement components, C4A and C4B, has been associated with systemic inflammatory autoimmune diseases. This study was undertaken to investigate whether C4 copy number variation is connected to the autoimmune repertoire in systemic lupus erythematosus (SLE), primary Sjögren's syndrome (SS), or myositis.

Methods: Using targeted DNA sequencing, we determined the copy number and genetic variants of C4 in 2,290 well-characterized Scandinavian patients with SLE, primary SS, or myositis and 1,251 healthy controls.

Disease mechanisms in Sjögren's syndrome: What do we know?

Why should we explore and study disease mechanisms? This is particularly important when we are dealing with complex pathogenesis without a direct causal agent, for example, syndromes with multiple organ involvements. Sjögren's syndrome is definitely such an entity. Also, there are a number of reasons for such studies such as disclosing the aetiology, to identify biomarkers for diagnosis and assessment of the disease process and monitor response to treatment, to determine targets for treatment, to define critical items in classification criteria, amongst others.