Reversible Perfusion Changes during Acute Attacks in Glucose Transporter Type 1 Deficiency Syndrome: A Pediatric Case Series.

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is an uncommon condition represented by an infantile-onset disorder, frequently arising from heterozygous mutations in the gene. Individuals with GLUT1-DS may present with early-onset seizures (typically manifesting before 4 years of age), developmental delay, and complex movement disorders. In fewer cases, stroke-like events or hemiplegic migraine-like symptoms are also reported, defined by unilateral paresis affecting 1 side of the body and/or one-half of the face, occasionally accompanied by speech impairment.

VASARI 2.0: a new updated MRI VASARI lexicon to predict grading and status in brain glioma.

Introduction: Precision medicine refers to managing brain tumors according to each patient's unique characteristics when it was realized that patients with the same type of tumor differ greatly in terms of survival, responsiveness to treatment, and toxicity of medication. Precision diagnostics can now be advanced through the establishment of imaging biomarkers, which necessitates quantitative image acquisition and processing. The VASARI (Visually AcceSAble Rembrandt Images) manual annotation methodology is an ideal and suitable way to determine the accurate association between genotype and imaging phenotype.

Machine learning predicts pulmonary Long Covid sequelae using clinical data.

Long COVID is a multi-systemic disease characterized by the persistence or occurrence of many symptoms that in many cases affect the pulmonary system. These, in turn, may deteriorate the patient's quality of life making it easier to develop severe complications. Being able to predict this syndrome is therefore important as this enables early treatment.

Dynamic barriers modulate cohesin positioning and genome folding at fixed occupancy.

In mammalian interphase cells, genomes are folded by cohesin loop extrusion limited by directional CTCF barriers. This interplay leads to the enrichment of cohesin at barriers, isolation between neighboring topologically associating domains, and elevated contact frequency between convergent CTCF barriers across the genome. However, recent measurements present a puzzle: reported residence times for CTCF on chromatin are in the range of a few minutes, while lifetimes for cohesin are much longer.