Case Report: Charcot-marie-tooth disease caused by a gene mutation - novel insights into pathogenicity and treatment.

Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral neuropathy involving approximately 80 pathogenic genes. Whole-exome sequencing (WES) and confirmatory Sanger sequencing analysis was applied to identify the disease-causing mutations in a Chinese patient with lower limb weakness. We present an 18-year-old male with a 2.

Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review.

Objectives: Autosomal recessive inherited ataxia with oculomotor apraxia type 2 (AOA2), caused by gene mutations, is characterized by early-onset, progressive cerebellar ataxia, peripheral neuropathy, oculomotor apraxia and elevated serum α-fetoprotein (AFP). This study aimed to expand and summarize the clinical and genetic characteristics of variants related to AOA2.

Methods: The biochemical parameters, electromyogram and radiological findings of the patient were evaluated.

Comprehensive Diagnostic Criteria for MELAS Syndrome; a Case Study Involving an Elderly Patient With MT-TWm.5541C>T Mutation.

Introduction: The mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a matrilineal hereditary multisystem disease caused by mutations in the mitochondrial DNA. Although the initial diagnostic criteria correlate with a range of clinical phenotypes, including clinical onset after the age of 40, there is still lack of a unified single diagnostic standard for MELAS.

Case Report: A 71-year-old female patient with recurrent stroke was reported.

Cellulose-starch Hybrid Films Plasticized by Aqueous ZnCl₂ Solution.

Starch and cellulose are two typical natural polymers from plants that have similar chemical structures. The blending of these two biopolymers for materials development is an interesting topic, although how their molecular interactions could influence the conformation and properties of the resultant materials has not been studied extensively. Herein, the rheological properties of cellulose/starch/ZnCl₂ solutions were studied, and the structures and properties of cellulose-starch hybrid films were characterized.

Identification and functional analysis of differentially expressed genes associated with cerebral ischemia/reperfusion injury through bioinformatics methods.

Cerebral ischemia/reperfusion (I/R) injury results in detrimental complications. However, little is known about the underlying molecular mechanisms involved in the reperfusion stage. The aim of the present study was to identify a gene expression profile associated with cerebral ischemia/reperfusion injury.