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 optimization in hyperthermia treatment planning aims to maximize tumour temperature (e.g.90; the temperature reached in at least 90% of the tumour) while enforcing hard constraints on normal tissue temperature (max(T) ⩽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).