A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles.

Background: Glycogen storage disease (GSD) Ia is an ultra-rare inherited disorder of carbohydrate metabolism. Patients often present in the first months of life with fasting hypoketotic hypoglycemia and hepatomegaly. The diagnosis of GSD Ia relies on a combination of different biomarkers, mostly routine clinical chemical markers and subsequent genetic confirmation.

Robust stochastic optimisation strategies for locoregional hyperthermia treatment planning using polynomial chaos expansion.

Conventional temperature optimisation in Hyperthermia Treatment Planning aims to maximise tumour temperature (e.g., T90; the temperature reached in at least 90% of the tumour) while enforcing hard constraints on normal tissue temperature (max(Ttissue)≤45°C).

Tumor gene expression is associated with venous thromboembolism in patients with ductal pancreatic adenocarcinoma.

Introduction: In patients with pancreatic cancer, the risk of venous thromboembolism (VTE) is high compared to other cancer types, suggesting that tumor-intrinsic features drive hypercoagulability. Tumor gene expression analysis may help unravel the pathogenesis of VTE in these patients and help to identify high-risk patients.

Aim: To evaluate the association between tumor gene expression patterns and VTE in patients with pancreatic cancer.

Quality of life aspects of intermittent catheterization in neurogenic and non-neurogenic patients: a systematic review on heterogeneity in the measurements used.

Background: Clean intermittent catheterization (CIC) is the golden standard in patients with lower urinary tract dysfunction, leading to bladder emptying problems, due to neurogenic or non-neurogenic causes. CIC affects patient Quality of Life (QoL) both positively and negatively.

Objectives: The aim of this systematic review is to determine which measurements are used to report on the QoL of patients who are on CIC in the currently available literature, to determine the overall QoL of patients who are on CIC and lastly, to determine whether QoL in patients who are on CIC is dependent on the underlying cause (neurogenic vs non-neurogenic).

Spatial Lipidomics Reveals Myelin Defects and Protumor Macrophage Infiltration in Malignant Peripheral Nerve Sheath Tumor Adjacent Nerves.

Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas arising from peripheral nerves, accounting for 3% to 5% of soft tissue sarcomas. MPNSTs often recur locally, leading to poor survival. Achieving tumor-free surgical margins is essential to prevent recurrence, but current methods for determining tumor margins are limited, highlighting the need for improved biomarkers.

The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside.

The urinary metabolite tetraglucoside (Glc4) is a potential biomarker for hepatic glycogen storage diseases (GSDs). Glc4 is believed to reflect body glycogen content and/or turnover. However, dietary polysaccharide intake may influence Glc4 excretion, potentially limiting the utility of Glc4 as a monitoring biomarker in hepatic GSDs.

Inflammatory Pseudotumor of the Ulnar Nerve Mimicking a Malignant Peripheral Nerve Sheath Tumor: A Radiologic Puzzle.

Inflammatory pseudotumor (IPT) of a peripheral nerve is a rare non-neoplastic tumefactive inflammatory condition, often mimicking malignancy. The etiology of this condition is still unknown. Clinically and radiologically, the lesion can mimic a malignant tumor.

Pediatric to adult transition care in neurogastroenterology and motility: A position paper from the American Neurogastroenterology and Motility Society and European Society of Neurogastroenterology and Motility.

Transition services-programs that support adolescents and young adults (AYAs) as they move from a child-centered to a more autonomous, adult-orientated healthcare system-have been associated with improved short- and long-term healthcare outcomes. Unfortunately, there is a paucity of evidence exploring transition services within the neurogastroenterology and motility (NGM) field. The overall aim of this article, endorsed by the American Neurogastroenterology and Motility Society and European Society of Neurogastroenterology and Motility, is to promote a discussion about the role of transition services for patients with NGM disorders.

Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin.

Renal proximal tubulopathy in Fanconi-Bickel syndrome is caused by impaired basolateral glucose transport via GLUT2 and consequently, intracellular accumulation of glucose and glycogen. SGLT2 inhibitors act on apical glucose reabsorption of renal proximal tubular cells. The purpose of this study was to retrospectively describe the first experiences with repurposing the SGLT2 inhibitor empagliflozin to treat the generalized tubulopathy in Fanconi-Bickel syndrome.

A vertebra of a small species of from the North Sea and its inner structure and vascularity compared with other basilosaurid vertebrae from the same site.

In the Western Scheldt Estuary near the Belgian-Dutch border, middle to late Eocene strata crop out at the current seafloor. Most vertebrae of large Eocene basilosaurid taxa from this area were previously described in several papers. They represent three morphotypes: elongated vertebrae of a large species of (Morphotype 1b), a not-elongated vertebra of a large 'dorudontid' basilosaurid (Morphotype 2) and 'shortened' vertebrae of a new, unnamed taxon (Morphotype 3).

Correlative cryo-microscopy pipelines for in situ cellular studies.

Correlative cryo-microscopy pipelines combining light and electron microscopy and tomography in cryogenic conditions (cryoCLEM) on the same sample are powerful methods for investigating the structure of specific cellular targets identified by a fluorescent tag within their unperturbed cellular environment. CryoCLEM approaches circumvent one of the inherent limitations of cryo EM, and specifically cryo electron tomography (cryoET), of identifying the imaged structures in the crowded 3D environment of cells. Whereas several cryoCLEM approaches are based on thinning the sample by cryo FIB milling, here we present detailed protocols of two alternative cryoCLEM approaches for in situ studies of adherent cells at the single-cell level without the need for such cryo-thinning.

Effect of optical diagnosis training on recognition and treatment of submucosal invasive colorectal cancer in community hospitals: a prospective multicenter intervention study.

Background:  Recognition of submucosal invasive colorectal cancer (T1 CRC) is difficult, with sensitivities of 35 %-60 % in Western countries. We evaluated the real-life effects of training in the OPTICAL model, a recently developed structured and validated prediction model, in Dutch community hospitals.

Methods:  In this prospective multicenter study (OPTICAL II), 383 endoscopists from 40 hospitals were invited to follow an e-learning program on the OPTICAL model, to increase sensitivity in detecting T1 CRC in nonpedunculated polyps.

Robust, planning-based targeted locoregional tumour heating in small animals.

To improve hyperthermia in clinical practice, pre-clinical hyperthermia research is essential to investigate hyperthermia effects and assess novel treatment strategies. Translating pre-clinical hyperthermia findings into clinically viable protocols requires laboratory animal treatment techniques similar to clinical hyperthermia techniques. The ALBA micro8 electromagnetic heating system (Med-logix SRL, Rome, Italy) has recently been developed to provide the targeted locoregional tumour heating currently lacking for pre-clinical research.

Alcohol use disorder and muscle weakness: Original study of the effect of vitamin D supplementation in ambulatory participants with alcohol use disorder.

Introduction: Chronic alcohol-related myopathy presents with proximal muscle weakness. We studied the effect of vitamin D supplementation on muscle weakness in adults with alcohol use disorder.

Method: The study was a randomized controlled trial.

Splanchnic vein thrombosis in necrotizing pancreatitis: a post-hoc analysis of a nationwide prospective cohort.

Background: Treatment guidelines for splanchnic vein thrombosis in necrotizing pancreatitis are lacking due to insufficient data on the full clinical spectrum.

Methods: We performed a post-hoc analysis of a nationwide prospective necrotizing pancreatitis cohort. Multivariable analyses were used to identify risk factors and compare the clinical course of patients with and without SVT.

Standardised training for endoscopic mucosal resection of large non-pedunculated colorectal polyps to reduce recurrence (*STAR-LNPCP study): a multicentre cluster randomised trial.

Objective: Endoscopic mucosal resection (EMR) is the preferred treatment for non-invasive large (≥20 mm) non-pedunculated colorectal polyps (LNPCPs) but is associated with an early recurrence rate of up to 30%. We evaluated whether standardised EMR training could reduce recurrence rates in Dutch community hospitals.

Design: In this multicentre cluster randomised trial, 59 endoscopists from 30 hospitals were randomly assigned to the intervention group (e-learning and 2-day training including hands-on session) or control group.

ESPGHAN and NASPGHAN 2023 protocol for paediatric FAPD treatment guidelines (standard operating procedure).

Introduction: To date, no international guidelines have been published for the treatment of paediatric functional abdominal pain disorders (FAPDs), subcategorised into functional abdominal pain-not otherwise specified (FAP-NOS), irritable bowel syndrome (IBS), functional dyspepsia and abdominal migraine (AM). We aim for a treatment guideline, focusing on FAP-NOS, IBS and AM, that appreciates the extensive array of available therapies in this field. We present the prospective operating procedure and technical summary protocol in this manuscript.

A randomized controlled trial comparing conservative versus surgical treatment in patients with foot drop due to peroneal nerve entrapment: results of an internal feasibility pilot study.

Background: Based on the lack of literature to support any treatment strategy in patients with foot drop due to peroneal nerve entrapment, a prospective study randomizing patients between surgery and conservative treatment is warranted. Since studies comparing surgery to no surgery are often challenging, we first examined the feasibility of such a randomized controlled trial.

Methods/design: An internal feasibility pilot study was conducted to assess several aspects of process, resource, management, and scientific feasibility.

Practice variation in venous resection during pancreatoduodenectomy for pancreatic cancer: A nationwide cohort study.

Background: Practice variation exists in venous resection during pancreatoduodenectomy, but little is known about the potential causes and consequences as large studies are lacking. This study explores the potential causes and consequences of practice variation in venous resection during pancreatoduodenectomy for pancreatic cancer in the Netherlands.

Methods: This nationwide retrospective cohort study included patients undergoing pancreatoduodenectomy for pancreatic cancer in 18 centers from 2013 through 2017.

Prolonged antibiotic prophylaxis after pancreatoduodenectomy: systematic review and meta-analysis.

Background: Previous studies have reported conflicting results of prolonged antibiotic prophylaxis on infectious complications after pancreatoduodenectomy. This study evaluated the effect of prolonged antibiotics on surgical-site infections (SSIs) after pancreatoduodenectomy.

Methods: A systematic review and meta-analysis was undertaken of SSIs in patients with perioperative (within 24 h) versus prolonged antibiotic (over 24 h) prophylaxis after pancreatoduodenectomy.

Therapeutic anticoagulation for splanchnic vein thrombosis in acute pancreatitis: A national survey and case-vignette study.

Background: Splanchnic vein thrombosis (SVT) is a major complication of moderate and severe acute pancreatitis. There is no consensus on whether therapeutic anticoagulation should be started in patients with acute pancreatitis and SVT.

Aim: To gain insight into current opinions and clinical decision making of pancreatologists regarding SVT in acute pancreatitis.