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Purpose: Studies comparing CSF and PET tau biomarkers have included only commercial CSF assays examining specific phosphorylation sites (e.g. threonine 181, P-tau 181p ) and mid-domain tau (i.e. total tau, T-tau). Moreover, these studies did not examine CSF tau levels in relation to cerebral glucose metabolism. We thus aimed to examine CSF tau measures, using both commercial and novel assays, in

BACKGROUND Three- pregnancies with male offspring in one family were complicated by severe polyhydramnios and prematurity. One fetus died; the other two had transient massive salt-wasting and polyuria reminiscent of antenatal Bartter's syndrome. METHODS To uncover the molecular cause of this possibly X-linked disease, we performed wholeexome sequencing of DNA from two members of the index family a

Background: Being able to discriminate between HIV-1, HIV-2 and HIV-1/2 dual infection is imperative for the appropriate selection of antiretroviral therapy (ART) in regions with high HIV-2 endemicity. Objectives: To evaluate Bio-Rad Geenius HIV-1/2 Confirmatory Assay against INNO-LIA HIV 1/2 Score and ImmunoComb HIV 1/2 BiSpot with an emphasis towards ability to discriminate between HIV-1, HIV-2

Context: In adults, craniopharyngioma (CP) of either childhood-onset (CO-CP) or adult-onset (AOCP) is associated with increased morbidity and mortality, but data on the relative risks (RRs) of contributing factors are lacking. Objective: To assess the RRs of factors contributing to morbidity and mortality in adults with CO-CP and AO-CP. Methods: Data on 1669 patients with CP from KIMS (Pfizer Inte

Light-level geolocators are currently widely used to track the migration of small-sized birds, but their potentially detrimental effects on survival of highly aerial species have been poorly investigated so far. We recorded capture–recapture histories of 283 common swifts Apus apus and 107 pallid swifts Apus pallidus breeding in 14 colonies in Italy, Spain, Sweden and Switzerland that were equippe

The Common Chiffchaff Phylloscopus collybita is an abundant, polytypic Palearctic bird. Validity of some of its subspecies is controversial and birds from some parts of the species range remain unclassified taxonomically. The relationships among populations from different geographic areas have not been sufficiently explored with molecular data. In this study we analyzed the relationships among the

Question: What is the interrater agreement of EEG interpretation in adult comatose post cardiac arrest patients using the American Clinical Neurophysiology Society (ACNS) standardized critical care EEG terminology? Methods: The EEG-data were obtained from patients included in the Target Temperature Management trial (TTM), an international, multicenter, clinical trial of temperature management in c

Background: Chronic postoperative pain after inguinal hernia surgery can affect sexual function. A new short form questionnaire for inguinal hernia pain related sexual dysfunction (SexIHQ) was introduced and applied to a register based cohort of total extra-peritoneal hernioplasty (TEP) operated patients. Methods: Sexually active men, 30–60 years old, recorded in the Swedish Hernia Register for a

Purpose: The purpose of this paper is to determine associations between initially recorded deviations in individual bedside vital parameters that contribute to total Modified Early Warning Score (MEWS) levels 2 or 3 and further clinical deterioration (MEWS level=4). Design/methodology/approach: This was a prospective study in which 27,504 vital parameter values, corresponding to a total MEWS level

Background: Spirometry, the main tool for diagnosis and follow-up of COPD, incompletely describes the disease. Based on volumetric capnography (VCap), an index was developed for the diagnosis and grading of COPD, aimed as a complement or alternative to spirometry. Methods: Nine non-smokers, 10 smokers/former smokers without COPD and 54 smokers/ former smokers with COPD were included in the study.

Background: Several factors have been reported that influence the probability of a germline CDKN2A mutation in a melanoma family. Our goal was to create a scoring system to estimate this probability, based on a set of clinical features present in the patient and his or her family. Methods: Five clinical features and their association with CDKN2A mutations were investigated in a training cohort of

The risk of pancreatic cancer (PC) is increased in melanoma-prone families but the causal relationship between germline CDKN2A mutations and PC risk is uncertain, suggesting the existence of non-CDKN2A factors. One genetic possibility involves patients having mutations in multiple high-risk PC-related genes; however, no systematic examination has yet been conducted. We used next-generation sequenc

Background: The effect of pneumococcal conjugate vaccines (PCV) on invasive pneumococcal disease is frequently reported, but the impact on upper respiratory tract infections in a clinical setting is less documented. Our aim in this 5-year observational study was to investigate serotype changes in a large number of Streptococcus pneumoniae upper respiratory tract isolates following sequential intro

Background: From middle childhood onwards, substantial evidence points to phenotypic differentiation between anxiety diagnostic categories such as generalised anxiety, separation anxiety, specific phobia, and obsessive-compulsive disorders. However, little is known about the genetics of these categories and especially about the phenotypic and genetic structure of related behaviours in pre-school c

Objectives To assess how suitable current chronic obstructive pulmonary disease (COPD) cost-effectiveness models are to evaluate personalized treatment options for COPD by exploring the type of heterogeneity included in current models and by validating outcomes for subgroups of patients. Methods A consortium of COPD modeling groups completed three tasks. First, they reported all patient characteri

The avian genus Calandrella (larks) was recently suggested to be non-monophyletic, and was divided into two genera, of which Calandrella sensu stricto comprises 4–5 species in Eurasia and Africa. We analysed mitochondrial cytochrome b (cytb) and nuclear Restriction-site Associated DNA (RAD) sequences from all species, and for cytb we studied 21 of the 22 recognised subspecies, with the aim to clar

Introduction: Most previous joint imaging scales for haemophilia have focused on earlier disease stages observed in younger patients. Aim: We sought to demonstrate that the 45-item extended magnetic resonance imaging (eMRI) scale is a valid instrument for measuring joint status in adults with severe haemophilia A. Methods: Six scale categories (effusion/haemarthrosis, synovial hypertrophy, hemosid

Introduction: Few large studies have examined the heritability of venous thromboembolism (VTE). Moreover, twin studies have been suggested to overestimate heritability. The aim of the present study was to determine the heritability nationwide in the general Swedish population using full siblings and half-siblings. Methods: VTE was defined using the Swedish patient register. Full sibling (FS) and h

Immune checkpoint inhibitors (ICPI), such as ipilimumab [anti-cytotoxic T-lymphocyte antigen-4 (CTLA-4) antibody] and nivolumab or pembrolizumab [anti-programmed cell death protein-1 (PD-1) antibodies], improve survival in several cancer types. Since inhibition of CTLA-4 or PD-1 leads to non-selective activation of the immune system, immune-related adverse events (irAEs) are frequent. Enterocoliti

Increasing evidence supports the benefit of identifying BRCA1 and BRCA2 germline mutations in early breast cancer. Selection of patients for genetic testing is based on defined criteria taking individual and family history related factors into account. It is important to make a distinction between efficacy and effectiveness of BRCA testing criteria. Efficacy can be defined as the performance under