Neurological disorders are an important cause of global human disease burden， but the mechanisms of the development and progression of neurological disorders remain unclear， and most studies have shown that they are associated with the expression of mutations in human genes. MEF2D， as an important transcription factor in the MEF2 family， plays an important role in both physiological and pathological processes. Related studies have found that MEF2D can be involved in neuronal survival， regulate neuronal responses to stimuli， and participate in the pathogenic process of neurological disorders. This article reviews the research advances in MEF2D in common neurological disorders.

Objective:To investigate the clinical characteristics, auxiliary examinations, and genetic mutations of a patient with myotonia congenita (MC).Methods:A retrospective analysis was conducted on the clinical data and whole exome sequencing results of a patient who visited the Department of Neurology, the First Affiliated Hospital of Xinjiang Medical University on April 13, 2023, and her family members. Candidate variants were verified by Sanger sequencing.Results:The patient was a 30-year-old female who presented with muscle stiffness and transient weakness during the transition from rest to movement since childhood, which improved after repeated limb movements. With age, involvement of upper limb skeletal muscles, extraocular muscles, and masticatory muscles was noted. Electromyography (EMG) showed abundant myotonic potentials in the muscles of the limbs, and serum creatine kinase levels (586.80 IU/L) were elevated. Genetic testing revealed that the patient carried 2 mutations in the CLCN1 gene: a newly discovered single nucleotide deletion mutation c.1388del (p.Phe463SerfsTer4), and a known missense mutation c.1679T>C (p.Met560Thr). These mutations were present in a compound heterozygous state. The patient′s father carried the c.1388del single heterozygous mutation, while her mother, son, aunt, younger uncle, and grandmother carried the c.1679T>C single heterozygous mutation. Conclusions:MC is primarily characterized by muscle stiffness and transient weakness at the onset of movement, which improves after "warm-up". The proband in this pedigree exhibits typical MC symptoms, with significantly elevated creatine kinase levels and EMG revealing abundant myotonic potentials in the muscles of the limbs indicating myopathic damages. The new mutation c.1388del (p.Phe463SerfsTer4) in the CLCN1 gene further expands the spectrum of pathogenic mutations in the CLCN1 gene.

Objective:To investigate the clinical characteristics, auxiliary examinations, and genetic mutations of a patient with myotonia congenita (MC).Methods:A retrospective analysis was conducted on the clinical data and whole exome sequencing results of a patient who visited the Department of Neurology, the First Affiliated Hospital of Xinjiang Medical University on April 13, 2023, and her family members. Candidate variants were verified by Sanger sequencing.Results:The patient was a 30-year-old female who presented with muscle stiffness and transient weakness during the transition from rest to movement since childhood, which improved after repeated limb movements. With age, involvement of upper limb skeletal muscles, extraocular muscles, and masticatory muscles was noted. Electromyography (EMG) showed abundant myotonic potentials in the muscles of the limbs, and serum creatine kinase levels (586.80 IU/L) were elevated. Genetic testing revealed that the patient carried 2 mutations in the CLCN1 gene: a newly discovered single nucleotide deletion mutation c.1388del (p.Phe463SerfsTer4), and a known missense mutation c.1679T>C (p.Met560Thr). These mutations were present in a compound heterozygous state. The patient′s father carried the c.1388del single heterozygous mutation, while her mother, son, aunt, younger uncle, and grandmother carried the c.1679T>C single heterozygous mutation. Conclusions:MC is primarily characterized by muscle stiffness and transient weakness at the onset of movement, which improves after "warm-up". The proband in this pedigree exhibits typical MC symptoms, with significantly elevated creatine kinase levels and EMG revealing abundant myotonic potentials in the muscles of the limbs indicating myopathic damages. The new mutation c.1388del (p.Phe463SerfsTer4) in the CLCN1 gene further expands the spectrum of pathogenic mutations in the CLCN1 gene.

Objective To study the reliability and validity of an aphasia battery of Uighur (ABU).Methods The Chinese Aphasia Battery (ABC) was translated into Uighur.Appropriate adaptation was made according to the features of Uyghur language,but the overall structure was unchanged.Three rounds of comments and revisions were conducted by experts and the ABU was back-translated into Chinese after language adjustment and pretesting.The ABU was then applied to evaluating 104 cases of stroke aphasia among Uighur speakers,among which 30 cases were retested one week later.The construct validity,internal reliability,retest reliability and splithalf reliability of the scale were tested using factor analysis and Spearman rank correlation analysis.Results The discrepancy between the original and back-translated ABC was less than 10％.The Kaiser-Meyer-Olkin value was 0.917 and the p value of the Bartlett's test for sphericity was ≤0.005.Three common factors were extracted using principal component analysis with a varimax orthogonal rotation:a writing factor;and a listening comprehension factor.Together they explained a total of 81％ of the variance.The Cronbach's α of the components were 0.969 for oral expression,0.922 for listening comprehension,0.966 for reading and 0.924 for writing,giving a total α coefficient of 0.978.The test-retest correlation coefficients of 22 items were greater than 0.8,with only another two below 0.7.The split-half reliability of the scale was 0.906.Conclusions The aphasia battery in Uighur has good validity and reliability,and can quantitatively reflect the functional status and language changes among Uighur's with stroke aphasia.It may also be suitable for application in the clinical rehabilitation of other sorts of Uighurspeaking aphasics.

Objective To observe the effects of using problem-based learning (PBL) and lecture-based learning (LBL) in clinical teaching in emergency intensive care unit (EICU).Methods Three hundred and twelve 5-year clinical medicine undergraduates from Xinjiang Medical University including 108 students in 2007 class and 204 students in 2008 class were enrolled. The students in each class were randomly divided into two groups, 54 students in each group in 2007 class and 102 students in each group in 2008 class. Randomized controlled trial was conducted; in the first half of a semester, the students in the two groups of each class were taught by PBL method and LBL method respectively. At the middle of the semester, written examination (WES), objective structure clinical examinations (OSCE) and self assessment questionnaire test were carried out to evaluate students' learning effect. In the second half of the semester, the teaching method in the two groups of each class was exchanged, and at the end of the semester, the same examinations were carried out, and the examination and questionnaire scores in the two groups of each class were compared.Results The results of comparisons of the WES and OSCE scores between two modes in each class showed that the scores of WES and OSCE of the PBL mode were obviously higher than those in the LBL mode (the first half of semester in 2007 class: WES: 23.20±3.33 vs. 22.78±4.41, OSCE: 27.60±6.44 vs. 25.45±6.35, in 2008 class: WES: 24.45±2.65 vs. 23.02±3.67, OSCE: 29.53±4.67 vs. 27.57±6.83, in the second half of the semester in 2007 class: WES: 24.60±3.67 vs. 23.46±2.57, OSCE: 28.50±4.78 vs. 28.01±5.78, in 2008 class: WES: 23.54±3.56 vs. 22.56±6.89, OSCE: 28.08±2.15 vs. 27.43±7.23,P < 0.05 orP < 0.01). The score results of self assessment questionnaires of students in two groups of 2007 class and 2008 class showed that the self learning ability, initiative, linking theory with practice, team power and attentiveness were significantly higher in the PBL teaching mode than those in the LBL teaching mode [the first half of the semester in 2007 class: self learning ability (score): 4.20±0.67 vs. 3.32±0.71, the initiative (score): 4.15±0.98 vs. 2.01±0.81, linking theory with practice (score): 4.09±0.65 vs. 3.52±0.89, team power (score): 4.43±0.56 vs. 3.08±0.43, attentiveness (score): 4.25±0.77 vs. 2.98±0.67; the second half of the semester in 2007 class: self learning ability (score): 4.23±0.77 vs. 2.11±0.98, the initiative (score): 4.59±0.85 vs. 3.20±0.73, linking theory with practice (score): 4.23±0.71 vs. 2.88±0.87, team power (score): 4.66±0.63 vs. 2.21±0.64, attentiveness (score): 4.21±0.73 vs. 2.28±0.43; the first half of the semester in 2008 class: self learning ability (score): 7.60±0.64 vs. 5.62±0.41, the initiative (score): 7.23±0.47 vs. 5.07±0.51, linking theory with practice (score): 7.04±0.67 vs. 4.56±0.59, team power (score): 7.33±0.55 vs. 5.06±0.47, attentiveness (score): 6.21±0.87 vs. 4.88±0.37; the second half of the semester in 2008 class: self learning ability (score): 7.03±0.71 vs. 5.11±0.48, the initiative (score): 7.89±0.57 vs. 5.20±0.33, linking theory with practice (score): 7.63±0.25 vs. 4.88±0.57, team power (score): 7.64±0.33 vs. 5.21±0.67, attentiveness (score): 7.01±0.89 vs. 6.01±0.90].Conclusion PBL method of teaching is worthwhile to be explored and spread extensively, especially in medicine, a scientific course involving much attention on practice, it embodies more importance.