Cognitive changes and brain structural abnormalities in female carriers of DMD pathogenic variants.

Background: Skeletal and cardiac muscle damage have been increasingly recognized in female carriers of DMD pathogenic variants (DMDc). Little is known about cognitive impairment in these women or whether they have structural brain damage.

Objective: To characterize the cognitive profile in a Brazilian cohort of DMDc and determine whether they have structural brain abnormalities using multimodal MRI.

Marriage is associated with decreased lesion volumes and less brain atrophy in people with multiple sclerosis.

Background: Married or long-term partnered patients with chronic diseases generally have better outcomes than unmarried patients, likely due to the potential for multifaceted support. However, the impact of marital status on multiple sclerosis (MS) radiographic disease burden is currently unknown.

Objective: To compare total white matter hyperintensity lesion volumes, periventricular lesion volumes, and whole brain and grey matter volumes in married and unmarried people with MS (PwMS).

Peripheral neuropathy in neuronal intranuclear inclusion disease: a clinical and electrophysiological cross-sectional study.

Background And Objective: Neuronal intranuclear inclusion disease (NIID) is a multifaceted disorder impacting both the central and peripheral nervous systems. This study aims to investigate the clinical and electrophysiological characteristics of peripheral neuropathy in patients with NIID.

Methods: In this cross-sectional study, patients diagnosed with NIID were prospectively recruited from multiple centers across China between October 2017 and May 2024.

Ocrelizumab dose selection for treatment of pediatric relapsing-remitting multiple sclerosis: results of the OPERETTA I study.

Background: The presented study identified the appropriate ocrelizumab dosing regimen for patients with pediatric-onset multiple sclerosis (POMS).

Methods: Patients with POMS aged 10-17 years were enrolled into cohort 1 (body weight [BW] < 40 kg, ocrelizumab 300 mg) and cohort 2 (BW ≥ 40 kg, ocrelizumab 600 mg) during a 24-week dose-exploration period (DEP), followed by an optional ocrelizumab (given every 24 weeks) extension period.

Primary Endpoints: pharmacokinetics, pharmacodynamics (CD19 B-cell count); secondary endpoint: safety; exploratory endpoints: MRI activity, protocol-defined relapses, Expanded Disability Status Scale (EDSS) score change.

MOG antibody-associated disease epidemiology in Olmsted County, USA, and Martinique.

Objectives: To report myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) epidemiology in two American regions using 2023 diagnostic criteria.

Patients And Methods: We compared age- and sex-adjusted incidence and prevalence of MOGAD per 2023 diagnostic criteria in Olmsted County (Minnesota [USA]) and Martinique (Caribbean [FR]) (01/01/2003-12/31/2018, prevalence day) using Poisson regression. Archived sera in 68-85% were available for MOG-IgG testing by live cell-based assay at Mayo Clinic.

Multifunctional Nanomedicine for Targeted Atherosclerosis Therapy: Activating Plaque Clearance Cascade and Suppressing Inflammation.

Atherosclerosis (AS) is a prevalent inflammatory vascular disease characterized by plaque formation, primarily composed of foam cells laden with lipids. Despite lipid-lowering therapies, effective plaque clearance remains challenging due to the overexpression of the CD47 molecule on apoptotic foam cells, inhibiting macrophage-mediated cellular efferocytosis and plaque resolution. Moreover, AS lesions are often associated with severe inflammation and oxidative stress, exacerbating disease progression.

Impact of Nutrition on the Gut Microbiota: Implications for Parkinson's Disease.

Parkinson's disease (PD) is a multifactorial neurodegenerative disease that is characterized by the degeneration of dopaminergic neurons in the substantia nigra pars compacta and by the anomalous accumulation of α-synuclein aggregates into Lewy bodies and Lewy neurites. Research suggests 2 distinct subtypes of PD: the brain-first subtype if the pathology arises from the brain and then spreads to the peripheral nervous system (PNS) and the body-first subtype, where the pathological process begins in the PNS and then spreads to the central nervous system. This review primarily focuses on the body-first subtype.

Technical considerations of cardiac computed tomography in children.

Cardiac computed tomography angiography (CTA) is a valuable tool in the assessment of congenital and acquired cardiac disease in children. The goal of cardiac CTA is to produce images that are free of motion and provide sufficient characterization of the anatomy in question. Given the complexity of pediatric patient characteristics, including patient size, heart rate, breath-holding capability, and variant anatomy, cardiac CTA technique must be individualized to the patient as well as the indication to answer the clinical question while also minimizing radiation exposure.

Glia: The Cellular Glue that binds Circadian Rhythms and Sleep.

Glia are increasingly appreciated as serving an important function in the control of sleep and circadian rhythms. Glial cells in Drosophila and mammals regulate daily rhythms of locomotor activity and sleep as well as homeostatic rebound following sleep deprivation. In addition, they contribute to proposed functions of sleep, with different functions mapping to varied glial subtypes.

Time-restricted feeding reduces cardiovascular disease risk in obese mice.

Disrupted feeding and fasting cycles as well as chronic high fat diet (HFD)-induced obesity are associated with cardiovascular disease risk factors. We designed studies that determined whether two weeks of time-restricted feeding (TRF) intervention in mice fed a chronic HFD would reduce cardiovascular disease risk factors. Mice were fed a normal diet (ND; 10% fat) ad libitum or HFD (45% fat) for 18 weeks ad libitum to establish diet-induced obesity.

Outcomes of mechanical thrombectomy for medium vessel occlusion in acute ischemic stroke patients with ASPECTS 4-5 vs. 6-7: a retrospective, multicenter, and multinational study.

Introduction: Mechanical thrombectomy (MT) efficacy in medium vessel occlusion (MeVO) stroke, particularly in patients with low Alberta Stroke Program Early Computed Tomography Score (ASPECTS), remains less explored.

Methods: This retrospective study analyzed data from 443 AIS patients treated with MT for MeVO and low ASPECTS (4-7) at 37 centers across North America, Asia, and Europe, from September 2017 to July 2021. Patients were categorized into ASPECTS of 4-5 and 6-7.

Real-World Effectiveness of Long-Acting Injectable and Oral Antipsychotic Agents in US Medicare Patients with Schizophrenia.

Introduction: Daily oral antipsychotics (OAPs) are the mainstay of schizophrenia treatment; however, long-acting injectable antipsychotics (LAIs) are associated with better treatment adherence and improved outcomes.

Methods: This study assessed the real-world comparative effectiveness of LAIs and daily OAPs using claims data from a nationally representative sample of fee-for-service Medicare beneficiaries with schizophrenia. Antipsychotic discontinuation, psychiatric hospitalization, and treatment failure were compared relative to different reference groups using within-individual Cox regression models.

Evaluating the feasibility of AI-predicted bpMRI image features for predicting prostate cancer aggressiveness: a multi-center study.

Objective: To evaluate the feasibility of utilizing artificial intelligence (AI)-predicted biparametric MRI (bpMRI) image features for predicting the aggressiveness of prostate cancer (PCa).

Materials And Methods: A total of 878 PCa patients from 4 hospitals were retrospectively collected, all of whom had pathological results after radical prostatectomy (RP). A pre-trained AI algorithm was used to select suspected PCa lesions and extract lesion features for model development.

Emerging nanoplatforms towards microenvironment-responsive glioma therapy.

Gliomas are aggressive intracranial tumors of the central nervous system with a poor prognosis, high risk of recurrence, and low survival rates. Radiation, surgery, and chemotherapy are traditional cancer therapies. It is very challenging to accurately image and differentiate the malignancy grade of gliomas due to their heterogeneous and infiltrating nature and the obstruction of the blood-brain barrier.

Low molecular weight galactomannan alleviates diarrhea induced by senna leaf in mice intestinal barrier improvement and gut microbiota modulation.

Low molecular weight galactomannan (LMGM), a soluble dietary fibre derived from guar gum, is recognized for its prebiotic functions, including promoting the growth of beneficial intestinal bacteria and the production of short-chain fatty acids, but the mechanism of alleviating diarrhea is not fully understood. This study established an acute diarrhea mouse model using senna leaf decoction and evaluated the therapeutic effects of LMGM by monitoring diarrhea scores, loose stool prevalence, intestinal tissue pathology and gene expression, and gut microbiota composition and metabolisms. The results indicated that LMGM significantly reduced diarrhea scores and loose stool prevalence within two hours post-treatment.

Soma and neurite density abnormalities of paramagnetic rim lesions and core-sign lesions in multiple sclerosis.

Background: In multiple sclerosis (MS), susceptibility-weighted imaging (SWI) may reveal white matter lesions (WML) with a paramagnetic rim ("paramagnetic rim lesions" [PRLs]) or diffuse hypointensity ("core-sign lesions"), reflecting different stages of WML evolution.

Objective: Using the soma and neurite density imaging (SANDI) model on diffusion-weighted magnetic resonance imaging (MRI), we characterized microstructural abnormalities of MS PRLs and core-sign lesions and their clinical relevance.

Methods: Forty MS patients and 20 healthy controls (HC) underwent a 3 T brain MRI.

Dysregulation of the molecular clock by blood-borne factors in Alzheimer's disease patients.

Background: Circadian disruptions are increasingly recognized in Alzheimer's disease (AD) patients and may influence disease onset and progression. This study examines how AD pathology affects blood-borne factors that regulate circadian rhythms.

Methods: Eighty-five participants from the Sino Longitudinal Study on Cognitive Decline were enrolled: 35 amyloid-beta negative normal controls (Aβ- NCs), 23 amyloid-beta positive normal controls (Aβ+ NCs), 15 patients with amnestic mild cognitive impairment (aMCI), and 12 with Alzheimer's disease dementia (ADD).

Refining the clinical and therapeutic spectrum of granulomatous myositis from a large cohort of patients.

Objectives: Granulomatous myositis (GM) is a rare entity whose precise clinical features and therapeutic outcomes have not yet been well defined. Given the limited evidence, data from a large cohort of patients is needed to aid in the recognition and management of this condition.

Methods: We retrospectively analyzed our institutional databases to identify patients who had myositis and non-caseating granuloma on muscle biopsy (GM).

Unraveling the inflammation-degeneration tangle in early MS: preliminary insights from ferritin, neurogranin, TREM2, and retinal ganglion cell layer.

Background: Multiple sclerosis (MS) involves a complex interplay between immune-mediated inflammation and neurodegeneration. Recent advances in biomarker research have provided new insights into the molecular underpinnings of MS, including ferritin, neurogranin, Triggering Receptor Expressed on Myeloid cells 2 (TREM2), and neurofilaments light chain.

Objectives: This pilot study aims to investigate the levels of these biomarkers in the cerebrospinal fluid (CSF) of MS patients and explore their associations with clinical, cognitive, and optical coherence tomography (OCT) parameters.

The role of skin microbiota in lichen planus from a Mendelian randomization perspective.

Lichen planus is a chronic skin lesion characterized by pruritic violaceous papules, which has a high risk of morbidity. Skin microbiota plays an important role in the maintenance of cutaneous mucosal barrier and human health and immune homeostasis. Studies have shown that skin microbiota may play a role in the pathogenesis of lichen planus, but it is not yet clear.

Complete genome sequences of mycobacteriophages JayJay and Rinkes.

The complete genome sequences were determined for two mycobacteriophages isolated from mc155. JayJay, a bacteriophage from cluster C1, encodes 234 putative genes, 32 tRNAs, and 1 tmRNA. Rinkes, a bacteriophage from cluster B9, harbors a smaller genome encoding 93 putative genes.

Bacterial components-driven intrahepatic CXCR5 B cells are important population for MASH progression through inducing inflammation.

Metabolic dysfunction-associated steatohepatitis (MASH) is characterized by severe liver inflammation and fibrosis due to an imbalanced immune response caused by enhanced bacterial components. The progression of MASH is closely linked to increased permeability of intestinal mucosal barrier facilitating enter of bacterial components into hepatic portal venous system. B cells are important immune cells for adaptive responses and enhance hepatic inflammation through cytokine production and T cell activation.

Ablation of satellite cell-specific clock gene, Bmal1, alters force production, muscle damage, and repair following contractile-induced injury.

Following injury, skeletal muscle undergoes repair via satellite cell (SC)-mediated myogenic progression. In SCs, the circadian molecular clock gene, Bmal1, is necessary for appropriate myogenic progression and repair with evidence that muscle molecular clocks can also affect force production. Utilizing a mouse model allowing for inducible depletion of Bmal1 within SCs, we determined contractile function, SC myogenic progression and muscle damage and repair following eccentric contractile-induced injury.

Thoracoabdominal chordoma in a pediatric patient. A rare entity.

Introduction: Chordoma is a rare, slow-growing notochordal neoplasm typical of adults. Less than 5% of the cases occur in children, where they are located at the skull base. Treatment involves surgical resection with or without radiotherapy.