X-Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant.

We studied three brothers and a maternal half-brother featuring global developmental delay, mild to moderate intellectual disability, epilepsy, microcephaly, and strabismus. All had bilateral perisylvian and perirolandic polymicrogyria, while some also had malformations of the hippocampus (malrotation and dysplasia), cerebellum (heterotopias and asymmetric aplasia), corpus callosum dysgenesis, and brainstem asymmetric dysplasia. Exome sequencing showed that all four patients had a novel variant (c.

Radiomics analysis of baseline computed tomography to predict oncological outcomes in patients treated for resectable colorectal cancer liver metastasis.

Objective: The purpose of this study was to determine and compare the performance of pre-treatment clinical risk score (CRS), radiomics models based on computed (CT), and their combination for predicting time to recurrence (TTR) and disease-specific survival (DSS) in patients with colorectal cancer liver metastases.

Methods: We retrospectively analyzed a prospectively maintained registry of 241 patients treated with systemic chemotherapy and surgery for colorectal cancer liver metastases. Radiomics features were extracted from baseline, pre-treatment, contrast-enhanced CT images.

Quantitative Ultrasound and Ultrasound-Based Elastography for Chronic Liver Disease: Practical Guidance, From the Special Series on Quantitative Imaging.

Quantitative ultrasound (QUS) and ultrasound-based elastography techniques are emerging as non-invasive effective methods for assessing chronic liver disease. They are more accurate than B-mode imaging alone and more accessible than MRI as alternatives to liver biopsy. Early detection and monitoring of diffuse liver processes such as steatosis, inflammation, and fibrosis play an important role in guiding patient management.

A qualitative study of experiences among young adults who increased their cannabis use during the COVID-19 pandemic.

Background: Young adults face unique vulnerabilities during major life disruptions like the COVID-19 pandemic. The pandemic contributed to increases in mental health challenges and substance use among young adults. This study explores the experiences of young adults who increased their cannabis use during the pandemic.

Exploring Prognostic Implications of Race and Ethnicity in Patients With Peripheral Arterial Disease.

Introduction: Significant health inequalities in major adverse limb events exist. Ethnically minoritized groups are more prone to have a major adverse event following peripheral vascular interventions. This systematic review and meta-analysis aimed to describe the postoperative implications of racial and ethnic status on clinical outcomes following vascular interventions for claudication and chronic limb-threatening ischemia.

Development of a new scale for self-reported procedural patient comfort during endovascular therapy for acute stroke.

Introduction: In stroke patients with acute large vessel occlusion, endovascular therapy (EVT) may be performed with or without sedation. Our aim is to describe self-reported intraprocedural comfort in patients undergoing EVT depending on sedation type.

Methods: We performed a prospective observational single-center study of patients undergoing EVT.

SPECT/CT to quantify early small airway disease and its relationship to clinical symptoms in smokers with normal lung function: a pilot study.

Introduction: Smokers frequently display respiratory symptoms despite the fact that their pulmonary function tests (PFTs) can be normal. Quantitative lung ventilation single-photon emission computed tomography (SPECT/CT) can provide a quantification of lung ventilatory homogeneity and could prove useful as an early marker of airway disease in smokers. We measured the effects of smoking on regional ventilation distribution in subjects with normal lung function and evaluated whether ventilation distribution in these subjects is related to lung function tests results and clinical symptoms.

Leveraging PARP-1/2 to Target Distant Metastasis.

Poly (ADP-Ribose) Polymerase (PARP) inhibitors have changed the outcomes and therapeutic strategy for several cancer types. As a targeted therapeutic mainly for patients with mutations, PARP inhibitors have commonly been exploited for their capacity to prevent DNA repair. In this review, we discuss the multifaceted roles of PARP-1 and PARP-2 beyond DNA repair, including the impact of PARP-1 on chemokine signalling, immune modulation, and transcriptional regulation of gene expression, particularly in the contexts of angiogenesis and epithelial-to-mesenchymal transition (EMT).

Resistance Training in Women Diagnosed with Breast Cancer: A Pilot Single Arm Pre-Post Intervention.

Resistance training (RT) yields physical and psychological benefits for women living with and beyond breast cancer (WBC). This study examined the feasibility of a virtually delivered 8-week socially supportive RT intervention among WBC and assessed changes in physical activity and body image. A pilot single-arm 8-week pre-post intervention study design was implemented.

Resting-State Functional Connectivity Profile of Insular Subregions.

The insula is often considered the fifth lobe of the brain and is increasingly recognized as one of the most connected regions in the brain, with widespread connections to cortical and subcortical structures. As a follow-up to our previous tractography work, we investigated the resting-state functional connectivity (rsFC) profiles of insular subregions and assessed their concordance with structural connectivity. We used the CONN toolbox to analyze the rsFC of the same 19 insular regions of interest (ROIs) we used in our prior tractography work and regrouped them into six subregions based on their connectivity pattern similarity.

Inter-visit and inter-reader reproducibility of multi-parametric diffusion-weighted MR imaging in longitudinally imaged patients with metabolic dysfunction-associated fatty liver disease and healthy volunteers.

Background: Despite the widespread use of diffusion-weighted imaging (DWI) in metabolic dysfunction-associated fatty liver disease (MAFLD), MRI acquisition and quantification techniques vary in the literature suggesting the need for established and reproducible protocols. The goal of this study was to assess inter-visit and inter-reader reproducibility of DWI- and IVIM-derived parameters in patients with MAFLD and healthy volunteers using extensive sampling of the "fast" compartment, non-rigid registration, and exclusion voxels with poor fit quality.

Methods: From June 2019 to April 2023, 31 subjects (20 patients with biopsy-proven MAFLD and 11 healthy volunteers) were included in this IRB-approved study.

Exploring the Acceptable Delay for Elective Treatment of Patients With an Abdominal Aortic Aneurysm: A Reflection During a Pandemic and an Exploratory Analysis.

Introduction: This study sought to determine the rupture risk of asymptomatic abdominal aortic aneurysms (AAAs) undergoing interventions as a function of time to establish a maximal acceptable surgical delay.

Methods: A literature review was performed from inception to August 30, 2021, to assess the risk of rupture of aneurysms over time. The analysis was limited to men with asymptomatic AAAs.

Stability of a Multiresponsive Sulfonium Vinyl Sulfide Linker toward Nucleophilic/Radical Thiols, Reactive Nitrogen Species, and in Cells under Pro-inflammatory Stimulation.

Chemical linkages that respond to biological stimuli are important for many pharmaceutical and biotechnological applications, making it relevant to explore new variants with different responsivity profiles. This work explores the responsiveness of a TAT peptide-based sulfonium vinyl sulfide probe that responds to nucleophilic thiols, radical thiol species (RTS), and reactive nitrogen species (RNS). Under model conditions, response to nucleophilic thiols was very slow (hours/days), though fast with down to molar equivalents of either RTS or RNS (minutes).

Role of the type 3 cytokines IL-17 and IL-22 in modulating metabolic dysfunction-associated steatotic liver disease.

Metabolic dysfunction-associated steatotic liver disease (MASLD) comprises a spectrum of liver diseases that span simple steatosis, metabolic dysfunction-associated steatohepatitis (MASH) and fibrosis and may progress to cirrhosis and cancer. The pathogenesis of MASLD is multifactorial and is driven by environmental, genetic, metabolic and immune factors. This review will focus on the role of the type 3 cytokines IL-17 and IL-22 in MASLD pathogenesis and progression.

The gut barrier as a gatekeeper in colorectal cancer treatment.

Colorectal cancer (CRC) is highly prevalent and is a major cause of cancer-related deaths worldwide. The incidence rate of CRC remains alarmingly high despite screening measures. The main curative treatment for CRC is a surgical resection of the diseased bowel segment.

Liver kinase B1 (LKB1) regulates the epigenetic landscape of mouse pancreatic beta cells.

Liver kinase B1 (LKB1/STK11) is an important regulator of pancreatic β-cell identity and function. Elimination of Lkb1 from the β-cell results in improved glucose-stimulated insulin secretion and is accompanied by profound changes in gene expression, including the upregulation of several neuronal genes. The mechanisms through which LKB1 controls gene expression are, at present, poorly understood.

Can you be a peer if you don't share the same health or social conditions? A qualitative study on peer integration in a primary care setting.

Background: Peer support has been extensively studied in specific areas of community-based primary care such as mental health, substance use, HIV, homelessness, and Indigenous health. These programs are often built on the assumption that peers must share similar social identities or lived experiences of disease to be effective. However, it remains unclear how peers can be integrated in general primary care setting that serves people with a diversity of health conditions and social backgrounds.

Opioid agonist treatment outcomes among individuals with a history of nonfatal overdose: Findings from a pragmatic, pan-Canadian, randomized control trial.

Background And Objectives: History of nonfatal overdose (NFO) is common among people who use opioids, but little is known about opioid agonist treatment (OAT) outcomes for this high-risk subpopulation. The objective of this study was to investigate the relative effectiveness of buprenorphine/naloxone and methadone on retention and suppression of opioid use among individuals with opioid use disorder (OUD) and history of NFO.

Methods: Secondary analysis of a pan-Canadian pragmatic trial comparing flexible take-home buprenorphine/naloxone and supervised methadone for people with OUD and history of NFO.

A defective splicing machinery promotes senescence through MDM4 alternative splicing.

Defects in the splicing machinery are implicated in various diseases, including cancer. We observed a general reduction in the expression of spliceosome components and splicing regulators in human cell lines undergoing replicative, stress-induced, and telomere uncapping-induced senescence. Supporting the view that defective splicing contributes to senescence, splicing inhibitors herboxidiene, and pladienolide B induced senescence in normal and cancer cell lines.