Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.

Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.

Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.

VIRTUAL ENVIRONMENTS AND HUMAN ANATOMY LEARNING ACHIEVEMENTS IN UNIVERSITY STUDENTS.

Introduction: Virtual learning is characterized by the fact that the sender and the receiver are not present in the development of the learning sessions or in the same physical space; it can be synchronous or asynchronous. In certain subjects such as Human Anatomy, the teaching was face-to-face, which is why the question arose whether the virtual teaching of human anatomy was effective or ineffective.

Objective: To determine the relationship between virtual environments and learning achievements in the subject of human anatomy in students of a Peruvian university during the COVID-19 pandemic.

Rapid Microwave Fixation of the Brain Reveals Seasonal Changes in the Phosphoproteome of Hibernating Thirteen-Lined Ground Squirrels.

Hibernating mammals such as the thirteen-lined ground squirrel () experience significant reductions in oxidative metabolism and body temperature when entering a state known as torpor. Animals entering or exiting torpor do not experience permanent loss of brain function or other injuries, and the processes that enable such neuroprotection are not well understood. To gain insight into changes in protein function that occur in the dramatically different physiological states of hibernation, we performed quantitative phosphoproteomics experiments on thirteen-lined ground squirrels that are summer-active, winter-torpid, and spring-active.

Modulatory effect of Echium plantagineum oil on the n-3 LC-PUFA biosynthetic capacity of chicken (Gallus gallus).

Poultry can be a sustainable source of eicosapentaenoic acid (EPA, 20:5n-3) and docosahexaenoic acid (DHA, 22:6n-3) through the bioconversion of dietary alpha-linolenic acid (ALA, 18:3n-3). However, this process is currently limited by the high n-6/n-3 ratio in poultry diets affecting the competition between n-6 and n-3 fatty acids (FA) for the same biosynthetic enzymes, and the rate-limiting Δ6 desaturase which act at both, the first and final steps of DHA synthesis pathway. Echium plantagineum oil (EO) is an unusual source of stearidonic acid (SDA, 18:4n-3) which bypasses the first Δ6 desaturase step potentially increasing n-3 long-chain polyunsaturated fatty acids (LC-PUFA) synthesis.

Real-World Treatment Patterns Among US Patients With Type 2 Diabetes Mellitus Initiating Treatment With Once Weekly Semaglutide for Diabetes.

Purpose: Injectable once weekly semaglutide for diabetes (OW sema) is a medication approved in 2017 for the treatment of patients with type 2 diabetes (T2DM). In clinical trials, OW sema has been shown to be effective at helping patients achieve glycemic targets. However, more data are needed to understand how patients who initiate treatment with OW sema are treated in the real world and to aid prescribers in making treatment decisions.