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Background: With advances in clinical genetic testing, associations between genetic neurodevelopmental disorders and parkinsonism are increasingly recognized. In this review, we aimed to provide a comprehensive overview of reports on parkinsonism in genetic neurodevelopmental disorders and summarize findings related to genetic diagnosis, clinical features and proposed disease mechanisms. Methods:

Peatlands, with high spatial variability in ecotypes and microforms, constitute a significant part of the boreal landscape and play an important role in the global carbon (C) cycle. However, the effects of this peatland heterogeneity within the boreal landscape are rarely quantified. Here, we use field-based measurements, high-resolution land cover classification, and biogeochemical and atmospheri

BACKGROUND: Emergency computed tomography angiography (CTA) is the most important imaging modality to visualize arterial occlusions in patients with acute lower limb ischaemia (ALI). Extravascular incidental findings (EVIFs) have received less attention.PURPOSE: The aims of this study were to evaluate the incidence of EVIFs of immediate clinical relevance in patients with ALI undergoing CTA and ev

OBJECTIVE: Obesity is a key risk factor for type 2 diabetes; however, up to 20% of patients are normal weight. Our aim was to identify metabolite patterns reproducibly predictive of BMI and subsequently to test whether lean individuals who carry an obese metabolome are at hidden high risk of obesity-related diseases, such as type 2 diabetes.RESEARCH DESIGN AND METHODS: Levels of 108 metabolites we

Purpose: To analyse the non-response group in the Swedish Knee Ligament Register (SKLR). Methods: All 3588 patients in the SKLR who had undergone anterior cruciate ligament surgery in 2010 were included. Respondents (n = 1865) and non-respondents (n = 1723) at the 2-year follow-up survey were assessed for potential differences in demographics and baseline data. KOOS/EQ5D questionnaires were sent t

In the face of global climate change there is an increasing demand for biofuel, which exerts pressure on production and thus management of biofuel plantations. The intensification of whole-tree harvest from biofuel plantations increases export of nutrients. Returning ash from biofuel combustion to the forest plantations can amend the soil nutrient status and thus facilitate sustainable forest mana

BACKGROUND: The distribution of retroperitoneal lymph node metastases for patients with nonseminoma and a residual tumour of 10-49 mm in a population-based setting is unknown. This information is needed to justify selection of patients for a unilateral template resection. OBJECTIVE: To describe the location of retroperitoneal metastases and recurrences in patients with nonseminoma germ cell tumour

Background/objectives: Diet is an important factor that can exacerbate or ameliorate chronic inflammation, which has been implicated in the pathogenesis of nonalcoholic fatty liver disease (NAFLD). However, no prospective study has yet investigated the relation between the inflammatory potential of diet and NAFLD. The aim of this study was to investigate the association between the inflammatory po

BACKGROUND: The aim of this study was to evaluate the feasibility and efficacy of a modified delivery system of the distal bifurcated FEVAR component where the dilator tip was shortened to prevent damage to the renovisceral bridging stents.METHODS: All consecutive patients from a tertiary referral center that underwent a FEVAR with a custom delivery system of the distal bifurcated endograft with a

Background: Atrial pacing and right ventricular (RV) pacing are both associated with adverse outcomes among patients with first-degree atrioventricular block (1°AVB). His-bundle pacing (HBP) provides physiological activation of the ventricle and may be able to improve both atrioventricular (AV) and inter-ventricular synchrony in 1°AVB patients. This study evaluates the acute echocardiographic and

Purpose: Validation of artificial intelligence (AI) algorithms in digital pathology with a reference standard is necessary before widespread clinical use, but few examples focus on creating a reference standard based on pathologist annotations. This work assesses the results of a pilot study that collects density estimates of stromal tumor-infiltrating lymphocytes (sTILs) in breast cancer biopsy s

OBJECTIVES: To investigate differences in antibiotic prescription for patients with hard-to-heal ulcers assessed using a digital decision support system (DDSS) compared with those assessed without using a DDSS. A further aim was to examine predictors for antibiotic prescription.DESIGN: Register-based study.SETTING: In 2018-2019, healthcare staff in primary, community and specialist care in Sweden

Background: In light of increasing therapeutic options, risk stratification of advanced cardiac transthyretin amyloidosis (ATTR-CA) is gaining clinical importance to avoid ineffective treatments. Liver stiffness as a marker of hypervolemia and hepatic congestion might predict mortality in advanced ATTR-CA and allow to identify patients at highest risk. Methods: Proven ATTR-CA patients underwent re

Objective: This study was undertaken to develop and characterize a multiplex immunoassay for detection of autoantibodies against peptides derived from proteins known to play a role in development of arthritis and that are also expressed in joints. Methods: We selected peptides from the human counterpart of proteins expressed in the joints, based on mouse models that showed these to be targeted by

Targeted temperature management (TTM) may moderate the injury from out-of-hospital cardiac arrest. Slowing the metabolism has been a suggested effect. Nevertheless, studies have found higher lactate levels in patients cooled to 33°C compared with 36°C even days from TTM cessation. Larger studies have not been performed on the TTM's effect on the metabolome. Accordingly, to explore the effect of TT

Background: The solid-state cadmium-zinc-telluride (CZT) gamma camera for myocardial perfusion single-photon emission computed tomography (MPS) has theoretical advantages compared to the conventional gamma camera technique. This includes more sensitive detectors and better energy resolution. We aimed to explore the diagnostic performance of gated MPS with a CZT gamma camera compared to a conventio

Background - Correct blood group typing is the cornerstone of transfusion medicine. In patients whose gastrointestinal wall is compromised, bacterial enzymes can cause deacetylation of blood group A, converting N-acetylgalactosamine to galactosamine, which resembles the B-defining galactose. This acquired B (acqB) phenomenon, first described 1959, can lead to blood grouping errors. Herein, we expl

Tirzepatide is a dual GIP and GLP-1 receptor co-agonist which is approved for glucose-lowering therapy in type 2 diabetes. Here, we explored its effects on beta cell function, insulin sensitivity and insulin-independent glucose elimination (glucose effectiveness) in normal mice. Anesthetized female C57/BL/6 J mice were injected intravenously with saline or glucose (0.125, 0.35 or 0.75 g/kg) with o