Molecular and cell phenotype programs in oral epithelial cells directed by co-exposure to arsenic and smokeless tobacco.

Chronic arsenic exposure can lead to various health issues, including cancer. Concerns have been mounting about the enhancement of arsenic toxicity through co-exposure to various prevalent lifestyle habits. Smokeless tobacco products are commonly consumed in South Asian countries, where their use frequently co-occurs with exposure to arsenic from contaminated groundwater.

In Vitro Modelling of Osteogenesis Imperfecta with Patient-Derived Induced Mesenchymal Stem Cells.

(1) Mesenchymal stem cells (MSCs) are a valuable cell model to study the bone pathology of Osteogenesis Imperfecta (OI), a rare genetic collagen-related disorder characterized by bone fragility and skeletal dysplasia. We aimed to generate a novel OI induced mesenchymal stem cell (iMSC) model from induced pluripotent stem cells (iPSCs) derived from human dermal fibroblasts. For the first time, OI iMSCs generation was based on an intermediate neural crest cell (iNCC) stage.

Familial Renal Glucosuria Presenting as Paroxysmal Glucosuria and Hypercalciuria Due to a Novel Heterozygous Variant.

Unlabelled: Familial renal glucosuria (FRG) is a rare genetic disease characterised by isolated glucosuria in the absence of proximal tubular dysfunction. It usually occurs due to a mutation in the gene encoding the sodium-glucose cotransporter-2 (SGLT2), responsible for most of the renal glucose reabsorption. We report on a case of a patient presenting with paroxysmal glucosuria and hypercalciuria due to a novel heterozygous variant.

Dietary biomarkers-an update on their validity and applicability in epidemiological studies.

The aim of this literature review was to identify and provide a summary update on the validity and applicability of the most promising dietary biomarkers reflecting the intake of important foods in the Western diet for application in epidemiological studies. Many dietary biomarker candidates, reflecting intake of common foods and their specific constituents, have been discovered from intervention and observational studies in humans, but few have been validated. The literature search was targeted for biomarker candidates previously reported to reflect intakes of specific food groups or components that are of major importance in health and disease.

Exploration of the skeletal phenotype of the mouse model for haploinsufficient osteogenesis imperfecta type 1.

Introduction: Osteogenesis Imperfecta is a rare genetic connective tissue disorder, characterized by skeletal dysplasia and fragile bones. Currently only two mouse models have been reported for haploinsufficient (HI) mild Osteogenesis Imperfecta (OI); the (Mov13) and the mouse model. The Mov13 mice were created by random insertion of the Mouse Moloney leukemia virus in the first intron of the gene, preventing the initiation of transcription.

Mycotoxin Exposure and Renal Cell Carcinoma Risk: An Association Study in the EPIC European Cohort.

Background: Mycotoxins have been suggested to contribute to a spectrum of adverse health effects in humans, including at low concentrations. The recognition of these food contaminants being carcinogenic, as co-occurring rather than as singularly present, has emerged from recent research. The aim of this study was to assess the potential associations of single and multiple mycotoxin exposures with renal cell carcinoma risk in the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort.

Collagen transport and related pathways in Osteogenesis Imperfecta.

Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone fragility and deformities as the main characteristics, albeit with different degrees of severity. Phenotypic variation also exists in other connective tissue aspects of the disease, complicating disease classification and disease course prediction. Although collagen type I defects are long established as the primary cause of the bone pathology, we are still far from comprehending the complete mechanism.

Mycotoxin exposure and human cancer risk: A systematic review of epidemiological studies.

In recent years, there has been an increasing interest in investigating the carcinogenicity of mycotoxins in humans. This systematic review aims to provide an overview of data linking exposure to different mycotoxins with human cancer risk. Publications (2019 and earlier) of case-control or longitudinal cohort studies were identified in PubMed and EMBASE.

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.

Osteogenesis imperfecta (OI) is characterized primarily by susceptibility to fractures with or without bone deformation. OI is genetically heterogeneous: over 20 genetic causes are recognized. We identified bi-allelic pathogenic KDELR2 variants as a cause of OI in four families.

Human Fibroblasts as a Model for the Study of Bone Disorders.

Bone tissue degeneration is an urgent clinical issue, making it a subject of intensive research. Chronic skeletal disease forms can be prevalent, such as the age-related osteoporosis, or rare, in the form of monogenetic bone disorders. A barrier in the understanding of the underlying pathological process is the lack of accessibility to relevant material.

Induced osteogenic differentiation of human smooth muscle cells as a model of vascular calcification.

Vascular calcification is a severe pathological event in the manifestation of atherosclerosis. Pathogenic triggers mediating osteogenic differentiation of arterial smooth muscle cells (SMC) in humans remain insufficiently understood and are to a large extent investigated in animal models or cells derived thereof. Here, we describe an in vitro model based on SMC derived from healthy and diseased humans that allows to comprehensively investigate vascular calcification mechanisms.

Mycotoxin exposure assessments in a multi-center European validation study by 24-hour dietary recall and biological fluid sampling.

The European Food Consumption Validation (EFCOVAL) project includes 600 men and women from Belgium, the Czech Republic, France, the Netherlands, and Norway, who had given serum and 24-hour urine samples, and completed 24-hour dietary recall (24-HDR) interviews. Consumption, according to 24-HDR, was matched against the European Food Safety Authority (EFSA) databases of mycotoxin contaminations, via the FoodEx1 standard classifications, producing an indirect external estimate of dietary mycotoxin exposure. Direct, internal measurements of dietary mycotoxin exposure were made in serum and urine by ultra-performance liquid chromatography coupled to tandem mass spectrometry.

Humans significantly metabolize and excrete the mycotoxin deoxynivalenol and its modified form deoxynivalenol-3-glucoside within 24 hours.

For the first time, a comprehensive human intervention study was conducted to unravel the urinary excretion profile and metabolism of the fungal metabolite deoxynivalenol (DON) and its modified form deoxynivalenol-3-glucoside (DON-3-glucoside). Twenty volunteers were restricted in consuming cereals and cereal-based foods for 4 days. At day 3, a single bolus of 1 µg/kg body weight of DON and a single bolus of 1 µg/kg body weight of DON-3-glucoside after a washing-out period of two months was administered, and a 24-h urine collection was performed.

[Dyspnea and cardia cancer, an unusual etiology].

Case Report: a 63-year old man, followed for a metastatic cardia cancer, develop a pericardial effusion with sign of pre-tamponade. A CT scanner suggests the presence of a gastro- esophageal-pericardial fistula. A surgical drainage brings a purulent fluid, infected by a polymicrobial flora.

Secukinumab: IL-17A inhibition to treat psoriatic arthritis.

Interleukin-17A is an important cytokine in the pathogenesis of psoriatic arthritis. Secukinumab is a recombinant, high-affinity, fully human immunoglobulin G1kappa monoclonal antibody with a selective binding and neutralization of interleukin-17A. By providing an alternative mechanism of action to current treatments, secukinumab has shown efficacy in the key clinical domains of psoriatic arthritis.

Pediatric lupus nephritis presenting with terminal renal failure.

A 12-year-old Congolese girl presented with acute renal failure, edema, hypertension, hemoptysis, hematuria, and proteinuria after a history of throat infection. Renal ultrasound showed kidneys of normal size, with increased echogenicity of the cortical parenchyma and decreased corticomedullary differentiation. Other additional investigations showed pancytopenia with decreased complement (low C3 and C4).

Orbital wall infarction in child with sickle cell disease.

We present the case of a 17-year-old boy, known with homozygous sickle cell disease, who was admitted because of generalised pain. He developed bilateral periorbital oedema and proptosis, without pain or visual disturbances. In addition to hyperhydration, oxygen and analgesia IV antibiotics were started, to cover a possible osteomyelitis.

Development and validation of a quantitative structure-activity relationship for chronic narcosis to fish.

Vertebrate testing under the European Union's regulation on Registration, Evaluation, Authorisation and Restriction of Chemical substances (REACH) is discouraged, and the use of alternative nontesting approaches such as quantitative structure-activity relationships (QSARs) is encouraged. However, robust QSARs predicting chronic ecotoxicity of organic compounds to fish are not available. The Ecological Structure Activity Relationships (ECOSAR) Class Program is a computerized predictive system that estimates the acute and chronic toxicity of organic compounds for several chemical classes based on their log octanol-water partition coefficient (K(OW)).

Comparison of four serological assays for the diagnosis of Chlamydia trachomatis in subfertile women.

Introduction: Chlamydia antibody testing (CAT) in serum has been introduced as a screening method in the infertility workup. We evaluated the test characteristics of two ELISA tests compared to micro-immunofluorescence tests (MIFs). MIFs are considered the gold standard in the C.

The haptoglobin phenotype influences the risk of cutaneous squamous cell carcinoma in kidney transplant patients.

Background: Cutaneous squamous cell carcinoma (SCC) is the most frequent skin cancer after organ transplantation. Currently, the pre-identification of transplant patients at increased risk for non-melanoma skin cancer remains difficult.

Objective: To investigate the Hp polymorphism as a marker for the identification of a subset of patients with an increased susceptibility to develop SCC/Bowen's disease.

Donor haptoglobin phenotype determines outcome following liver transplantation.

Haptoglobin (Hp) is a polymorphic plasma protein with multiple functions defined by three major phenotypes (Hp 1-1, Hp 2-1, and Hp 2-2). In this article, the effects of the donor Hp phenotype (determined by starch gel electrophoresis) on the outcome and the iron status after liver transplantation were investigated. A total of 450 liver transplant patients were enrolled in this study with a median follow-up of 37 months.

Effects of chemically and electrochemically dosed chlorine on Escherichia coli and Legionella beliardensis assessed by flow cytometry.

The present study reports the disinfection effects of chemically and electrochemically dosed chlorine on two models for typical water-borne bacteria (Escherichia coli and Legionella beliardensis) by plating and flow cytometry (FCM) in combination with different fluorescence dyes. The residual effect on various cell functions, including cultivability, esterase activity, membrane polarization, and integrity, was tested at different free chlorine concentrations. In comparison, chemical disinfection yielded on average 60% more E.

The haptoglobin phenotype is associated with the Epstein-Barr virus antibody titer.

Background: Epstein-Barr virus (EBV) is a human herpes virus that persists for life and is associated with several neoplasms. Haptoglobin (Hp), a polymorphic multifunctional plasma protein, exerts several immunomodulatory effects. The present study investigated the influence of the genetic polymorphism of Hp on EBV serology.