-related disorder in 87 adults: Natural history and self-sustainability.

Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.

Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.

Associations between subclinical thyroid dysfunction and cardiovascular risk factors according to age and sex.

Context: Subclinical thyroid dysfunction (ScTD) comprising subclinical hypothyroidism (SHypo) and subclinical hyperthyroidism (SHyper) has been associated with increased risk for cardiovascular events.

Objective: To assess associations between ScTD and cardiovascular risk factors (cvRFs) according to age and sex.

Design And Setting: Pooled individual participant data analysis of large prospective cohort studies from the Thyroid Studies Collaboration.

Associations between plasma osteopontin, sex, and 2-year global and cardiorenal outcomes in older outpatients screened for CKD: a secondary analysis of the SCOPE study.

Background: Plasma osteopontin (pOPN) is a promising aging-related biomarker among individuals with and without kidney disease. The interaction between sex, pOPN levels, and global and cardiorenal outcomes among older individuals was not previously evaluated.

Methods: In this study we investigated the association of pOPN with 24-month global mortality, major cardiovascular events (MACEs), MACEs + cardiovascular (CV) mortality, and renal decline among older individuals; we also evaluated whether sex modified observed associations.

The Road to a Realistic 3D Model for Estimating R and R* Relaxation Versus Gd-DTPA Concentration in Whole Blood and Brain Tumor Vasculature.

Dynamic susceptibility contrast (DSC) MRI is commonly part of brain tumor imaging. For quantitative analysis, measurement of the arterial input function and tissue concentration time curve is required. Usually, a linear relationship between the MR signal changes and contrast agent concentration ([Gd]) is assumed, even though this is a known simplification.

Early Restrictive vs Liberal Oxygen for Trauma Patients: The TRAUMOX2 Randomized Clinical Trial.

Importance: Early administration of supplemental oxygen for all severely injured trauma patients is recommended, but liberal oxygen treatment has been associated with increased risk of death and respiratory complications.

Objective: To determine whether an early 8-hour restrictive oxygen strategy compared with a liberal oxygen strategy in adult trauma patients would reduce death and/or major respiratory complications.

Design, Setting, And Participants: This randomized controlled trial enrolled adult trauma patients transferred directly to hospitals, triggering a full trauma team activation with an anticipated hospital stay of a minimum of 24 hours from December 7, 2021, to September 12, 2023.

Body Weight Gain Associated With Alectinib in Patients With ALK+ Non-Small Cell Lung Cancer: Pooled Analysis of Individual Patient Data From Four Prospective Clinical Trials.

Purpose: Weight gain is a known adverse event (AE) of alectinib. This study evaluates the progression of actual weight gain over time and explores its association with baseline characteristics.

Methods: A pooled analysis of individual patient data from four clinical trials (ALEX, J-ALEX, ALUR, and ML29453) was conducted.

Perspectives on why DanGer Shock is the first positive trial on mechanical circulatory support in cardiogenic shock.

Cardiogenic shock related to acute myocardial infarction (AMI-CS) remains a severe condition associated with a high risk of mortality despite increased availability of primary percutaneous coronary intervention and improvements in pharmacologic and device-based therapy. The results of the DanGer Shock trial stand out compared with the outcomes of the previous trials and mark the first mechanical circulatory support (MCS) strategy to show a benefit in patients with AMI-CS, a population that has always been challenging to study. Notably, negative findings from previous trials may mask positive treatment effects in specific subgroups and patient category.

Two Cases of Intraocular Undifferentiated Pleomorphic Sarcoma.

Introduction: Undifferentiated pleomorphic sarcoma (UPS), formerly known as malignant fibrous histiocytoma, is a high-grade soft tissue sarcoma arising from mesenchymal stem cells. UPSs are rare and account for about 5% of all soft tissue sarcoma. UPSs arising in the head and neck are especially rare, comprising 1-3% of all UPSs.

Yield of Targeted Polymerase Chain Reaction in Probable Early-Onset Sepsis: A Prospective Cohort Study in Term and Near-Term Neonates With Negative Blood Culture Results.

Background: Discriminating noninfected from infected neonatal cases remains challenging, and subsequently many neonates are treated with antibiotics in the first week of life. We aimed to study the additional value of a targeted polymerase chain reaction (PCR) for group B streptococcus (GBS) and on leftover blood culture media from term and near-term neonates with probable early-onset sepsis (EOS).

Methods: Leftover blood culture material from neonates participating in the RAIN study was stored after 5 days of incubation.

Survival of Patients with Resected Microsatellite Instability-High, Mismatch Repair Deficient, and Lynch Syndrome-Associated Pancreatic Ductal Adenocarcinomas.

Background: Pancreatic ductal adenocarcinoma (PDAC) remains a challenging disease due to its aggressiveness, late-stage diagnosis, and limited treatment options. Microsatellite instability-high (MSI-H) cancers are susceptible to immune checkpoint inhibitors. Survival outcomes for patients with MSI-H PDAC are unknown as the disease is rare.

Targeted lung cancer screening in the age of immunotherapies and targeted therapies - an economic evaluation for Australia.

Background: The cost-effectiveness of different lung cancer screening strategies has been evaluated from an Australian public health system perspective using static models. In addition, the impact of novel therapies, including immunotherapies and targeted therapies, on the cost-effectiveness of lung cancer screening has not yet been evaluated comprehensively. We evaluated the benefits, harms and cost-effectiveness of a targeted national lung screening program in Australia, accounting for the increasing uptake of novel therapies, which informed the lung cancer screening recommendations of the Australian Medical Services Advisory Committee (MSAC).

Automated method of bronchus and artery dimension measurement in an adult bronchiectasis population.

Aim: Bronchiectasis (BE) is a disease defined by irreversible dilatation of the airway. Computed tomography (CT) plays an important role in the detection and quantification of BE. The aim of this study was three-fold: 1) to assess bronchus-artery (BA) dimensions using fully automated software in a cohort of BE disease patients; 2) to compare BA dimensions with semi-quantitative BEST-CT (Bronchiectasis Scoring Technique for CT) scores for BE and bronchial wall thickening; and 3) to explore the structure-function relationship between BA-method lumen dimensions and spirometry outcomes.

Exploring ChatGPT in clinical inquiry: a scoping review of characteristics, applications, challenges, and evaluation.

Introduction: Recent advancements in generative AI, exemplified by ChatGPT, hold promise for healthcare applications such as decision-making support, education, and patient engagement. However, rigorous evaluation is crucial to ensure reliability and safety in clinical contexts. This scoping review explores ChatGPT's role in clinical inquiry, focusing on its characteristics, applications, challenges, and evaluation.

Implementation of Music in the Perioperative Standard Care of Colorectal Surgery: A Cost-Effectiveness Analysis.

Introduction: Randomized controlled trials and meta-analyses have provided evidence of the positive effects of perioperative music interventions on pain, anxiety, and stress. However, the cost-effectiveness is unknown. The objective of this study was to analyze the cost-effectiveness of the implementation of a music intervention in the perioperative care of patients undergoing colorectal surgery.

Outcomes in early mobilisation research in critically ill children: A scoping review.

Objective: Early mobilisation in critically ill children is safe and feasible. However, the effectiveness of early mobilisation on short- and long-term outcomes is understudied. The aim of this scoping review was to generate an overview of outcomes used in previous research regarding early mobilisation in critically ill children.

Endoscopic papillectomy versus surgical ampullectomy for adenomas and early cancers of the papilla: a retrospective Pancreas2000/European Pancreatic Club analysis.

Objective: Ampullary neoplastic lesions can be resected by endoscopic papillectomy (EP) or transduodenal surgical ampullectomy (TSA) while pancreaticoduodenectomy is reserved for more advanced lesions. We present the largest retrospective comparative study analysing EP and TSA.

Design: Of all patients in the database, lesions with prior interventions, benign histology advanced malignancy (T2 and more), patients with hereditary syndromes and those undergoing pancreatoduodenectomy were excluded.

Assessing the Cause of Death for Men with Prostate Cancer Using Official Mortality Statistics or a Dedicated Cause of Death Committee: Results from 30-year ERSPC Rotterdam Data.

Unlabelled: For men with prostate cancer (PCa) within the European Randomized Study of Screening for Prostate Cancer (ERSPC), the cause of death is determined by a Cause of Death Committee (CODC) that evaluates all medical records using a fixed algorithm. The aim of this study was to compare the classification of PCa-specific mortality (PCSM) between the CODC and Statistics Netherlands. We calculated the sensitivity (PCSM agreement divided by total PCSM deaths according to the CODC) and specificity (agreement for other-cause mortality [OCM] divided by total OCM deaths according to the CODC) using the last 21-yr follow-up data from ERSPC Rotterdam.

Label-free single-cell RNA multiplexing leveraging genetic variability.

Single cell RNA sequencing has provided unprecedented insights into the molecular cues and cellular heterogeneity underlying human disease. However, the high costs and complexity of single cell methods remain a major obstacle for generating large-scale human cohorts. Here, we compare current state-of-the-art single cell multiplexing technologies, and provide a widely applicable demultiplexing method, SoupLadle, that enables simple, yet robust high-throughput multiplexing leveraging genetic variability of patients.

Developing an effective and simple digital screening tool to identify inadequate calcium intake in pregnant women: A prediction model in the Rotterdam periconception cohort.

Objectives: An inadequate intake of calcium in pregnancy is associated with higher risks of maternal hypertensive pregnancy disorders, premature birth and intrauterine growth restriction. An evidence based and clinically applicable tool to efficiently estimate the adequacy of calcium intake in pregnant women currently does not exist. The aim of this study is to develop an effective and simple digital screening tool for calcium intake in pregnancy.