Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities.

Hereditary fructose intolerance (HFI) is characterized by liver damage and a secondary defect in N-linked glycosylation due to impairment of mannose phosphate isomerase (MPI). Mannose treatment has been shown to be an effective treatment in a primary defect in MPI (i.e.

A Morphologic Analysis of Thumb Ulnar Collateral Ligament Avulsion Fracture Fragments and Risk Factors for Surgical Treatment.

Background: There is debate regarding nonoperative versus surgical treatment of thumb ulnar collateral ligament (UCL) tears with avulsion fractures. The aim of this study was to evaluate the fragment size in relation to the UCL footprint size in patients with an avulsion fracture injury and to find risk factors associated with surgical treatment.

Methods: In a cohort of avulsion fracture injury patients, the largest side of the fragment was divided by the average reported UCL footprint size (ff-ratio), and a logistic regression was performed to find variables associated with surgery.

A Case of a Large Brain Metastasis: Time for Multidisciplinary Consultation.

Patients with complex diseases are mostly treated in a multidisciplinary setting. The impact of multidisciplinary care cannot be emphasized enough as it has the potential to significantly increase survival and, in some cases, help avoid a risky treatment approach. The aim of this case illustration is to emphasize the importance of multidisciplinary treatment and learn from the different approaches that can be made while treating such patients.

Comparison of HiDAC Versus FLAG-IDA in the Treatment of Relapsed Acute Myeloid Leukemia and High-Risk Myelodysplastic Syndrome.

Background: Relapsed acute myeloid leukemia (AML) and high-risk myelodysplastic syndrome (HR-MDS) are associated with a poor prognosis. It is unknown which re-induction therapy provides the highest chance of durable remission. Commonly used therapies are high dose cytarabine (HiDAC) and triple therapy consisting of fludarabine, cytarabine, and idarubicin combined with granulocyte colony-stimulating factor (FLAG-IDA).

Aperiodic neural activity distinguishes between phasic and tonic REM sleep.

Traditionally categorized as a uniform sleep phase, rapid eye movement sleep exhibits substantial heterogeneity with its phasic and tonic constituents showing marked differences regarding many characteristics. Here, we investigate how tonic and phasic states differ with respect to aperiodic neural activity, a marker of arousal and sleep. Rapid eye movement sleep heterogeneity was assessed using either binary phasic-tonic (n = 97) or continuous (in 60/97 participants) approach.

Kinomic profiling to predict sunitinib response of patients with metastasized clear cell Renal Cell Carcinoma.

Introduction: Treatment with Sunitinib, a potent multitargeted receptor tyrosine kinase inhibitor (TKI) has increased the progression-free survival (PFS) and overall-survival (OS) of patients with metastasized renal cell carcinoma (mRCC). With modest OS improvement and variable response and toxicity predictive and/or prognostic biomarkers are needed to personalize patient management: Prediction of individual TKI therapy response and resistance will increase successful treatment outcome while reducing unnecessary drug use and expense. The aim of this study was to investigate whether kinase activity analysis can predict sunitinib response and/or toxicity using tissue samples obtained from primary clear cell RCC (ccRCC) from a cohort of clinically annotated patients with mRCC receiving sunitinib as first-line treatment.

Hemostatic Outcome Definitions in Pediatric Extracorporeal Membrane Oxygenation: Challenges in Cohorts From Rotterdam (2019-2023) and Melbourne (2016-2022).

Objectives: To determine if a priori standardization of outcome hemostatic definitions alone was adequate to enable useful comparison between two cohorts of pediatric extracorporeal membrane oxygenation (ECMO) patients, managed according to local practice and protocol.

Design: Comparison of two separate prospective cohort studies performed at different centers with standardized outcome definitions agreed upon a priori.

Setting: General and cardiac PICUs at the Royal Children's Hospital (RCH) in Melbourne, Australia, and the Sophia Children's Hospital (SCH) in Rotterdam, The Netherlands.

Challenges in Describing Tremor and Dystonia.

Tremor is defined as an oscillatory and rhythmical movement. By contrast, dystonia is defined by sustained or intermittent abnormal postures, repetitive movements, or both. Tremor and dystonia often coexist in the same individual.

Artificial intelligence-based tissue segmentation and cell identification in multiplex-stained histological endometriosis sections.

Study Question: How can we best achieve tissue segmentation and cell counting of multichannel-stained endometriosis sections to understand tissue composition?

Summary Answer: A combination of a machine learning-based tissue analysis software for tissue segmentation and a deep learning-based algorithm for segmentation-independent cell identification shows strong performance on the automated histological analysis of endometriosis sections.

What Is Known Already: Endometriosis is characterized by the complex interplay of various cell types and exhibits great variation between patients and endometriosis subtypes.

Study Design, Size, Duration: Endometriosis tissue samples of eight patients of different subtypes were obtained during surgery.

Treatments and Treatment Predictors in Patients With Substance Use Disorders and Comorbid Attention-Deficit/Hyperactivity Disorder: First Results From the International Naturalistic Cohort Study of ADHD and SUD (INCAS).

Treatment of attention-deficit/ hyperactivity disorder (ADHD) in patients with a substance use disorder (SUD) and comorbid ADHD (SUD +ADHD) may have positive effects on the outcome of both conditions, but controversy exists regarding the preferred ADHD treatment in these patients. Little is known about the treatments that are provided for these patients in routine addiction care practice and the factors that are associated with treatment provision. To describe the treatments provided in everyday clinical practice and to explore factors associated with ADHD treatment provision in patients with SUD +ADHD.

Development of the Dutch translational knowledge agenda for inherited metabolic diseases.

Background: Inherited metabolic diseases (IMDs) may have considerable implications for patients and their families. Despite their individual rarity, covering a spectrum of over 1800 distinct diseases, the diseases collectively exert a significant impact, with often lifelong disabilities. The United for Metabolic Diseases consortium was established to catalyze research with translation into the best possible care.

NanoCMSer: a consensus molecular subtype stratification tool for fresh-frozen and paraffin-embedded colorectal cancer samples.

Colorectal cancer (CRC) is a significant contributor to cancer-related mortality, emphasizing the need for advanced biomarkers to guide treatment. As part of an international consortium, we previously categorized CRCs into four consensus molecular subtypes (CMS1-CMS4), showing promise for outcome prediction. To facilitate clinical integration of CMS classification in settings where formalin-fixed paraffin-embedded (FFPE) samples are routinely used, we developed NanoCMSer, a NanoString-based CMS classifier using 55 genes.

Development and validation of artificial intelligence models for early detection of postoperative infections (PERISCOPE): a multicentre study using electronic health record data.

Background: Postoperative infections significantly impact patient outcomes and costs, exacerbated by late diagnoses, yet early reliable predictors are scarce. Existing artificial intelligence (AI) models for postoperative infection prediction often lack external validation or perform poorly in local settings when validated. We aimed to develop locally valid models as part of the PERISCOPE AI system to enable early detection, safer discharge, and more timely treatment of patients.

Auditory working memory in noise in cochlear implant users: Insights from behavioural and neuronal measures.

Objective: We investigated auditory working-memory using behavioural measures and electroencephalography (EEG) in adult Cochlear Implant (CI) users with varying degrees of CI performance.

Methods: 24 adult CI listeners (age: M = 61.38, SD = 12.

Returning to Work is Associated with Higher Quality of Life: A LIMB-Q Analysis in Patients with Limb-Threatening Injuries.

Objectives: To identify clinical, demographic, and patient-reported outcomes (PROs) associated with return to work after lower extremity traumatic injury requiring amputation or limb salvage.

Methods: Design: Cross-sectional study.

Setting: Multi-center across 25 countries.

Hypertension and orthostatic hypotension in the elderly: a challenging balance.

Hypertension and orthostatic hypotension (OH) frequently coexist in the older population, both stemming from impaired blood pressure (BP) regulation. Managing hypertension in patients with OH presents a significant clinical challenge, particularly in frail older adults who are also prone to falls. Hypertension treatment is often suboptimal in this population due to concerns over the potential increased risk of falls associated with treatment.

Physiological versus time based cord clamping in very preterm infants (ABC3): a parallel-group, multicentre, randomised, controlled superiority trial.

Background: Physiological-based cord clamping (PBCC) in preterm infants is beneficial for cardiovascular transition at birth and may optimize placental transfusion. Whether PBCC can improve clinical outcomes is unknown. The aim of the Aeration, Breathing, Clamping (ABC3) trial was to test whether PBCC results in improved intact survival in very preterm infants.

Corrigendum to "Understanding frailty and its opposites from community-dwelling older people's perspectives: A phenomenological qualitative study" [International Journal of Nursing Studies Advances 7 (2024) 100238].

[This corrects the article DOI: 10.1016/j.ijnsa.

Monitoring and modulating cardiac bioelectricity: from Einthoven to End-user.

In 2024, we celebrate the 100th anniversary of Willem Einthoven receiving the Nobel Prize for his discovery of the mechanism of the electrocardiogram. Building on Einthoven's legacy, electrocardiography allows the monitoring of cardiac bioelectricity through solutions to the so-called forward and inverse problems. These solutions link local cardiac electrical signals with the morphology of the electrocardiogram, offering a reversible connection between the heart's electrical activity and its representation on the body surface.

The relationship between brain structure and function during novel grammar learning across development.

In this study, we explored the relationship between developmental differences in gray matter structure and grammar learning ability in 159 Dutch-speaking individuals (8 to 25 yr). The data were collected as part of a recent large-scale functional MRI study (Menks WM, Ekerdt C, Lemhöfer K, Kidd E, Fernández G, McQueen JM, Janzen G. Developmental changes in brain activation during novel grammar learning in 8-25-year-olds.

Machine-learning based prediction of appendicitis for patients presenting with acute abdominal pain at the emergency department.

Background: Acute abdominal pain (AAP) constitutes 5-10% of all emergency department (ED) visits, with appendicitis being a prevalent AAP etiology often necessitating surgical intervention. The variability in AAP symptoms and causes, combined with the challenge of identifying appendicitis, complicate timely intervention. To estimate the risk of appendicitis, scoring systems such as the Alvarado score have been developed.

AI in Dental Radiology-Improving the Efficiency of Reporting With ChatGPT: Comparative Study.

Background: Structured and standardized documentation is critical for accurately recording diagnostic findings, treatment plans, and patient progress in health care. Manual documentation can be labor-intensive and error-prone, especially under time constraints, prompting interest in the potential of artificial intelligence (AI) to automate and optimize these processes, particularly in medical documentation.

Objective: This study aimed to assess the effectiveness of ChatGPT (OpenAI) in generating radiology reports from dental panoramic radiographs, comparing the performance of AI-generated reports with those manually created by dental students.

Percutaneous pulmonary valve implantation guided by three-dimensional rotational angiography.

Objectives: To describe the workflow and value of three-dimensional rotational angiography (3DRA) in percutaneous pulmonary valve implantation (PPVI).

Background: 3DRA offers visualization of the entire topography in the chest and may enhance safety and reduce the risk for complications in PPVI through improved pre-procedural planning and per-procedural guidance.

Methods: All PPVI procedures with the use of 3DRA performed between August 2011 and December 2022 were reviewed.