Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration. Magnetic resonance imaging (MRI) shows diffusely abnormal and swollen cerebral white matter and subcortical cysts. On follow-up, atrophy ensues. Approximately 80% of MLC patients have mutations in MLC1. We report 16 MLC patients without MLC1 mutations. Eight retained the classical clinical and MRI phenotype. The other 8 showed major MRI improvement. They lacked motor decline. Five had normal intelligence; 3 displayed cognitive deficiency. In conclusion, 2 phenotypes can be distinguished among the non-MLC1 mutated MLC patients: a classical and a benign phenotype.
Poor understanding of the cellular and molecular basis of clinical and genetic heterogeneity in progressive multiple sclerosis (MS) has hindered the search for new effective therapies. To address this gap, we analyzed 632,000 single-nucleus RNA sequencing profiles from 156 brain tissue samples of MS and control donors to examine inter- and intra-donor heterogeneity. We found distinct cell type-specific gene expression changes between MS gray and white matter, highlighting clear pathology differences.
Purpose: This study presents novel quality assurance (QA) approach for volumetric modulated arc therapy (VMAT) that leverages frame-by-frame electronic portal imaging device (EPID) images integrated into Mobius3D for accurate three-dimensional dose calculations.
Methods: Sequential EPID images for VMAT plans were acquired every 0.4-second by iView system and processed through iterative deconvolution to mitigate blurring from photon scattering.
Solid tumors vary by the immunogenic potential of the tumor microenvironment (TME) and the likelihood of response to immunotherapy. The emerging literature has identified key immune cell populations that significantly impact immune activation or suppression within the TME. This study investigated candidate T-cell populations and their differential infiltration within different tumor types as estimated from mRNA co-expression levels of the corresponding cellular markers.
Background: There are no clinical or laboratory markers that can diagnose acute mesenteric ischemia (AMI) accurately. This study aimed to find differences in clinical and laboratory markers between arterial occlusive AMI and other acute abdominal diseases where AMI was initially suspected.
Methods: This was a post hoc study of an international prospective multicenter study where data on patients with suspected AMI were collected.
As adaptive radiotherapy workflows and deep learning model training rise in popularity, the need for a repeated applications of a rapid dose calculation algorithm increases. In this work we evaluate the feasibility of a simple algorithm that can calculate dose directly from MLC positions in near real-time. Given the necessary machine parameters, the intensity modulated radiation therapy (IMRT) doses are calculated and can be used in optimization, deep learning model training, or other cases where fast repeated segment dose calculations are needed.
