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Fabry disease (FD) is an X-linked lysosomal storage disease caused by α-galactosidase A deficiency, leading to intralysosomal build-up of glycosphingolipids. In this case report, a 35-year-old male presented with thousands of angiokeratomas, primarily concentrated in the "bathing-trunk" area. Despite numerous visits to doctors in different specialities FD was not suspected.

Emergency Call versus General Practitioner Requested Ambulances - Patient Mortality, Disease Severity and Pattern.

Introduction: Ambulance requests by general practitioners for primary care patients (GP-requested) are often omitted in studies on increased demand within emergency care but may comprise a substantial patient group. We aimed to assess acute severity, intensive care unit (ICU) admission, and diagnostic pattern, including comorbidity, and mortality among GP-requested ambulance patients, compared to emergency call ambulance patients. Our hypothesis was that emergency call patients had more severe health issues than GP-requested ambulance patients.

Reevaluating the role of interferon-beta in psoriasis pathogenesis: A registry-based self-controlled study.

Interferon-beta has been suggested as a trigger of psoriasis, yet a systematic investigation is lacking. This study aimed to assess the risk of developing psoriasis following interferon-beta treatment, utilizing a pharmaco-epidemiological approach to investigate the role of interferon-beta in psoriasis pathogenesis. We included all treatment-naïve patients with multiple sclerosis (MS) in Denmark who initiated interferon-beta treatment for MS from January 1996 to June 2023.

Room temperature 3D carbon microprinting.

Manufacturing custom three-dimensional (3D) carbon functional materials is of utmost importance for applications ranging from electronics and energy devices to medicine, and beyond. In lieu of viable eco-friendly synthesis pathways, conventional methods of carbon growth involve energy-intensive processes with inherent limitations of substrate compatibility. The yearning to produce complex structures, with ultra-high aspect ratios, further impedes the quest for eco-friendly and scalable paths toward 3D carbon-based materials patterning.

Effect of erythropoietin on cognitive side-effects of electroconvulsive therapy in depression: A randomized, double-blind, placebo-controlled trial.

Electroconvulsive therapy (ECT) is one of the most effective and rapid-acting treatment for severe depression but is associated with cognitive side-effects. Identification of add-on treatments that counteract these side-effects would be very helpful. This randomized, double-blinded, placebo-controlled, parallel-group study investigated the effects of four add-on erythropoietin (EPO; 40,000 IU/ml) or saline (placebo) infusions over 2.

Tolerability and comparative effectiveness of TNF, IL-17 and IL-23(p19) inhibitors in psoriatic arthritis: a target trial emulation study.

Objectives: To compare the tolerability and effectiveness of two different classes of biological DMARDs [IL-17 and IL-23(p19) inhibitors, IL-17i and IL-23(p19)i] relative to TNF inhibitors (TNFi) regarding the drug survival rates and treatment outcomes in patients with PsA.

Methods: We emulated a target trial on comparative effectiveness using observational data from a prospective cohort study based on the Parker Institute's PsA cohort (the PIPA cohort). All patients underwent interview and a clinical examination programme at baseline and at follow-up visits at 4 and 12 months.

Prehospital Early Warning Scores to Predict Mortality in Patients Using Ambulances.

Importance: Early warning scores (EWSs) are designed for in-hospital use but are widely used in the prehospital field, especially in select groups of patients potentially at high risk. To be useful for paramedics in daily prehospital clinical practice, evaluations are needed of the predictive value of EWSs based on first measured vital signs on scene in large cohorts covering unselected patients using ambulance services.

Objective: To validate EWSs' ability to predict mortality and intensive care unit (ICU) stay in an unselected cohort of adult patients who used ambulances.

Predicting sepsis onset using a machine learned causal probabilistic network algorithm based on electronic health records data.

Sepsis is a leading cause of mortality and early identification improves survival. With increasing digitalization of health care data automated sepsis prediction models hold promise to aid in prompt recognition. Most previous studies have focused on the intensive care unit (ICU) setting.

Treatment-related changes in serum neutrophil gelatinase-associated lipocalin (NGAL) in psoriatic arthritis: results from the PIPA cohort study.

Objectives: Obesity and psoriatic arthritis (PsA) have a complicated relationship. While weight alone does not cause PsA, it is suspected to cause worse symptoms. Neutrophil gelatinase-associated lipocalin (NGAL) is secreted through various cell types.

Correction: Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.

[This corrects the article DOI: 10.1371/journal.pone.

Confocal microscopy and optical coherence tomography of inflammatory skin diseases in hairs and pilosebaceous units: A systematic review.

Common skin disorders such as acne vulgaris, rosacea and folliculitis are bothersome prevalent inflammatory diseases of hair follicles that can easily be investigated bedside using optical coherence tomography (OCT) and reflectance confocal microscopy (RCM) with micrometre resolution, opening a novel era for high-resolution hair follicle diagnostics and quantitative treatment evaluation. EMBASE, PubMed and Web of Science were searched until 5 January 2023 to identify all studies imaging hair follicle characteristics by RCM and OCT for diagnosis and monitoring of treatment in hair follicle-based skin disorders. This study followed PRISMA guidelines.

Detection of cutaneous malignant melanoma by tape stripping of pigmented skin lesions - A systematic review.

Background: Cutaneous malignant melanoma (MM) is potentially aggressive, and numerous clinically suspicious pigmented skin lesions are excised, causing unnecessary mutilation for patients at high healthcare costs, but without histopathological evidence of MM. The high number of excisions may be lowered by using more accurate diagnostics. Tape stripping (TS) of clinically suspicious lesions is a non-invasive diagnostic test of MM that can potentially lower the number needed to biopsy/excise.

Nailfold capillaroscopy as diagnostic test in patients with psoriasis and psoriatic arthritis: A systematic review.

Up to 30 % of patients with psoriasis (PsO) develop psoriatic arthritis (PsA), and diagnosis can be difficult. Nailfold capillaroscopy (NC) is an easily applicable, non-invasive procedure to assess skin microcirculation. This systematic review investigates NC as diagnostic tool for PsO and PsA, including correlations between NC outcome measures to clinical and laboratory outcome measures.

Unravelling the role of dopants in the electrocatalytic activity of ceria towards CO reduction in solid oxide electrolysis cells.

CO reduction in Solid Oxide Electrolysis Cells (SOECs) is a key-technology for the transition to a sustainable energy infrastructure and chemical industry. Ceria (CeO) holds great promise in developing highly efficient, cost-effective and durable fuel electrodes, due to its promising electrocatalytic properties, and proven ability to suppress carbon deposition and to tolerate high concentrations of impurities. In the present work, we investigate the intrinsic electrocatalytic activity of ceria towards CO reduction by means of electrochemical impedance spectroscopy (EIS) on model systems with well-defined geometry, composition and surface area.

Coronavirus Disease: Subacute to Chronic Neuroimaging Findings.

Several neurologic disorders are associated with coronavirus disease 2019 (COVID-19). In this article, clinical syndromes typically occurring in the subacute to chronic phase of illness and their neuroimaging findings are described with discussion of their COVID-19 specific features and prognosis. Proposed pathogenic mechanisms of these neuroimaging findings and challenges in determining etiology are reviewed.

Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.

The lysosomal storage disorder Fabry disease is caused by deficient or absent activity of the GLA gene enzyme α-galactosidase A. In the present study we present the molecular and biochemical data of the Danish Fabry cohort and report 20 years' (2001-2020) experience in cascade genetic screening at the Danish National Fabry Disease Center. The Danish Fabry cohort consisted of 26 families, 18 index patients (9 males and 9 females, no available data for 8 index-patients) and 97 family members with a pathogenic GLA variant identified by cascade genetic testing (30 males and 67 females).

Machine-Learning Model for Mortality Prediction in Patients With Community-Acquired Pneumonia: Development and Validation Study.

Background: Artificial intelligence tools and techniques such as machine learning (ML) are increasingly seen as a suitable manner in which to increase the prediction capacity of currently available clinical tools, including prognostic scores. However, studies evaluating the efficacy of ML methods in enhancing the predictive capacity of existing scores for community-acquired pneumonia (CAP) are limited. We aimed to apply and validate a causal probabilistic network (CPN) model to predict mortality in patients with CAP.

Multimodal imaging of the distal interphalangeal-joint synovio-entheseal complex in psoriatic arthritis (MIDAS): a cross-sectional study on the diagnostic accuracy of different imaging modalities comparing psoriatic arthritis to psoriasis and osteoarthritis.

Objective: Can ultrasound (US), MRI and X-ray applied to the distal interphalangeal (DIP)-joint and synovio-entheseal complex (SEC) discriminate between patients with psoriatic arthritis (PsA), skin psoriasis (PsO) and hand osteoarthritis (OA)?

Methods: In this prospective, cross-sectional study, patients with DIP-joint PsA and nail involvement (n=50), PsO with nail involvement (n=12); and OA (n=13); were consecutively recruited. Risk ratios (RR) were calculated for US, MRI and X-ray findings of the DIP-joint and SEC between diagnoses.

Results: New bone formation (NBF) in US and MRI was a hallmark of OA, reducing the risk of having PsA (RR 0.

Increased prevalence of sleep disturbance in psoriatic arthritis is associated with inflammatory and non-inflammatory measures.

Objectives: To examine the prevalence of sleep disturbances, quantified by the Pittsburgh Sleep Quality Index (PSQI), in patients with psoriatic arthritis (PsA), psoriasis (PsO) and healthy controls (HCs), explore associations between PSQI and clinical and patient-reported outcomes, and evaluate the effect of treatment on PSQI.

Method: Patients were included from the Parker Institute's PsA patient cohort to evaluate the prevalence of sleep disturbances. Univariate and multivariate regression analyses were used to explore associations between sleep disturbance and outcome measures.