Purpose: Diagnosis of malignant mesothelioma is challenging. The first available diagnostic material is often an effusion and biochemical analysis of soluble markers may provide additional diagnostic information. This study aimed to establish a predictive model using biomarkers from pleural effusions, to allow early and accurate diagnosis. Patients and Methods: Effusions were collected prospectively from 190 consecutive patients at a regional referral centre. Hyaluronan, N-ERC/mesothelin, C-ERC/mesothelin, osteopontin, syndecan-1, syndecan-2, and thioredoxin were measured using ELISA and...

Objective: Return-to-work (RTW) following diagnosis of infiltrative low-grade gliomas (LGG) is unknown. Methods: Swedish patients with histopathological verified WHO grade II diffuse glioma diagnosed between 2005-2015 were included. Data were acquired from several Swedish registries. A total of 381 patients aged 18-60 were eligible. A matched control population (n=1900) was acquired. Individual data on sick leave, compensations, comorbidity, and treatments assigned were assessed. Predictors were explored using multivariable logistic regression. Results: One year before surgery/index...

Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, caused mainly by mutations in the collagen I genes (COL1A1 and COL1A2). Dentinogenesis imperfecta (DGI) and other dental aberrations are common features of OI. We investigated the association between collagen I mutations and DGI, taurodontism, and retention of permanent second molars in a retrospective cohort of 152 unrelated children and adolescents with OI. The clinical examination included radiographic evaluations. Teeth from 81 individuals...

Context: Little is known about how lifestyle changes can affect well-being in overweight women with polycystic ovary syndrome (PCOS). Objective: To study the effects of lifestyle intervention on psychological well-being, and the impact of well-being and personality traits on successful weight loss. Design: A four-month Randomized Controlled Trial with a 12-months follow-up. Setting: University Hospital. Patients: Sixty-eight women with PCOS, aged 18 to 40 years and BMI ≥ 27 kg/m2. Interventions: Participants were randomized (1:1)...

The dataset includes two tabular sets of concentration measurements of selected proteins in plasma samples from patients with soft tissue infections or sepsis. Patients with soft tissue infections are classified into three groups: Patients with necrotizing soft tissue infections (NSTI), suspected NSTI cases but where no necrotic tissue was found during surgical exploration (Non-NSTI) and cellulitis. The sepsis patient cohort has heterogeneous etiologies and location of infection. Additionally, we included a group of patients that...

Here we report on a 70-year-old female presenting with an unusual progressive syndrome with fatal outcome. The predominant features in this case were spastic paraparesis, cognitive decline and respiratory failure. Relatives affected with a similar syndrome were previously diagnosed with lipofuscinosis. However, whole-genome sequencing (WGS) in our case did not reveal any pathogenic variants in genes associated with lipofuscinosis, but instead detected the known D178 variant in PRNP. The course of disease was rapid despite...

Multiple Sclerosis (MS), the leading cause of non-traumatic neurological disability in young adults, is a chronic inflammatory and neurodegenerative disease of the central nervous system (CNS). Due to the poor accessibility to the target organ, CNS-confined processes underpinning the later progressive form of MS remain elusive thereby limiting treatment options. We aimed to examine DNA methylation, a stable epigenetic mark of genome activity, in glial cells to capture relevant molecular changes underlying MS neuropathology. We...

Cancer-associated fibroblasts (CAFs) are considered one of the most critical stromal cells that interact with pancreatic ductal adenocarcinoma (PDAC) and promote tumor growth, metastasis, and treatment resistance. Previous studies illustrated macroautophagy/autophagy contributes to CAF activation during tumor progression. Here in our study, we found that autophagy deficiency in CAFs impedes CAF activation by inhibiting proline biosynthesis and collagen production. Furthermore, we uncovered that autophagy promotes proline biosynthesis through mitophagy-mediated regulation of NADK2 (NAD kinase 2,...

Additional file 1.

Additional file 2. The top 5,000 differentially methylated CpGs.

Self-reported sex problems among women diagnosed with reproductive and nonreproductive cancers before the age of 40 are not fully understood. This study aimed to determine sexual dysfunction in young women following a cancer diagnosis in relation to women of the general population. Furthermore, to identify factors associated with sexual dysfunction in women diagnosed with cancer. A population-based cross-sectional study with 694 young women was conducted 1.5 years after being diagnosed with cancer (response rate 72%)....

Additional file 2: Table S1. Description of the studies included in the analyses.

Antibiotics have saved hundreds of millions of patient’s lives, but there are also many side effects. This paper mainly studies the regulation of Chinese yam on antibiotic-induced gut dysbiosis in rats. Male Wistar rats were divided into three groups, normal control group, antibiotic group, and Chinese yam group. In the antibiotic group and the yam group, a rat model of intestinal dysfunction was established by intragastric administration of imipenem/cilastatin sodium (antibiotic) for 21 days. The...

The dataset contains the repertoire sequencing data from 45 adult volunteers.For each case 4 separate TCR repseq libraries were constructed after cDNA synthesis using a UMI containing primer located in the constant exon of the TRA, TRD, TRB and TRG genes respectively. In each case a 5’ multiplex set of primers specific for the leader regions of the V genes of either TRA, TRD, TRB or TRG genes was used along with a universal reverse...

Streptococcus pneumoniae is a major human pathogen, and a leading cause of disease and death worldwide. Pneumococcal invasive disease is triggered by initial asymptomatic colonization of the human upper respiratory tract. The pneumococcal serine-rich repeat protein (PsrP) is a lung-specific virulence factor whose functional binding region (BR) binds to keratin-10 (KRT10) and promotes pneumococcal biofilm formation through self-oligomerization. We present the crystal structure of the KRT10-binding domain of PsrP (BR187–385) determined to 2.0 Å resolution....

Additional file 1.

Additional file 2.

Additional file 2.

It is well established that differences in migratory behavior between populations of songbirds have a genetic basis but the actual genes underlying these traits remains largely unknown. In an attempt to identify such candidate genes we de novo assembled the genome of the willow warbler Phylloscopus trochilus, and used whole-genome resequencing and a SNP array to associate genomic variation with migratory phenotypes across two migratory divides around the Baltic Sea that separate SW migrating P....

Osimertinib is effective for relapsed T790M-positive patients with brain metastases. The high brain permeability suggests that also such patients without T790M could benefit. Therefore, we evaluated the effect of osimertinib on brain metastases in both T790M-positive and -negative patients. The TREM-study was an investigator-initiated phase II, single-arm, multi-institutional clinical trial conducted in Northern Europe. Patients with resistance to prior EGFR-TKIs received osimertinib until radiological progression, unacceptable toxicity or death. Baseline brain scans were performed in...

The dataset contains the repertoire sequencing data from 45 adult volunteers.For each case 4 separate TCR repseq libraries were constructed after cDNA synthesis using a UMI containing primer located in the constant exon of the TRA, TRD, TRB and TRG genes respectively. In each case a 5’ multiplex set of primers specific for the leader regions of the V genes of either TRA, TRD, TRB or TRG genes was used along with a universal reverse...

Immunoglobulin A deficiency (IgAD) is the most common primary immune deficiency disorder in both humans and dogs, characterized by recurrent mucosal tract infections and a predisposition for allergic and other immune mediated diseases. In several dog breeds, low IgA levels have been observed at a high frequency and with a clinical resemblance to human IgAD. In this study, we used genome-wide association studies (GWAS) to identify genomic regions associated with low IgA levels in dogs...

Background & Aims: Adenocarcinomas of the pancreatobiliary system are currently classified by their primary anatomical location. In particular, the pathological diagnosis of intrahepatic cholangiocarcinoma is still considered as a diagnosis of exclusion of metastatic adenocarcinoma. Periampullary cancers have been previously classified according to the histological type of differentiation (pancreatobiliary, intestinal), but overlapping morphological features hinder their differential diagnosis. We performed an integrative immunohistochemical analysis of pancreato-biliary tumors to improve their diagnosis and prediction of outcome....

Objective: To perform a comprehensive characterization of a cohort of patients with chorea-acanthocytosis (ChAc) in Sweden. Methods: Clinical assessments, targeted genetic studies, neuroimaging with MRI,18F-fluorodeoxyglucose (FDG) PET and dopamine transporter with [123I] FP-CIT (DaTscan) SPECT. One patient underwent Magnetic Resonance Spectroscopy (MRS). Results: Four patients living in Sweden but with different ethnical backgrounds were included. Their clinical features were variable. Biallelic VPS13A mutations were confirmed in all patients, including three novel mutations. All tested patients...

Familial hemiplegic migraine (FHM) is a group of rare familial disorders caused, in most cases, by mutations in CACNA1A and ATP1A2.1 Heterozygous mutations in solute carrier family 1 member 3 (SLC1A3), encoding glial glutamate transporter, are associated with episodic ataxia type 6 (EA6).2,–5 In addition to episodic ataxia (EA), alternating hemiplegia and hemiplegic migraine have been reported twice in patients with EA6.2,4 Mutations in SLC1A3 are very rare; screenings in cohorts of EA and alternating...