ABSTRACT
A 26-year-old male presented with tremor of bilateral shoulders and hands as the major symptom and also had cognitive and emotional abnormalities for more than 1 year, who was diagnosed as cerebral hepatolenticular degeneration (HLD) in Tongji Hospital of Huazhong University of Science and Technology in October 2021. The serum ceruloplasmin and urine copper levels of the patient were 0.023 g/L and 3760.00 μg/24 h, respectively, and the Kayser-Fleischer (K-F) ring was seen in the cornea. Genetic testing revealed a homozygous mutation of ATP7B gene c.2975C>T (p.Pro992Leu), while transcranial sonography (TCS) showed lenticular nucleus hyper-echogenicity. The literature was searched using hepatolenticular degeneration and transcranial sonography as key words; and 9 articles involving 150 HLD cases were obtained. The lenticular nucleus hyper-echogenicity was presented in 76.9% HLD patients (150/195), while only in 12.7% healthy subjects (17/134) ( P<0.001), suggesting that advanced transcranial sonography can detect the metal deposition and may be used for diagnosis of cerebral HLD.
ABSTRACT
Objective:To design and compile quality evaluation questionnaire on problem-based learning (PBL) of Neurology and to test its reliability and validity.Methods:Referring to the framework of the evaluation system and according to the characteristics of the discipline, we designed the questionnaire on PBL of Neurology. The clinical medical students who participated in neurologic PBL course were taken as the objects of investigation. The reliability of the questionnaire and the reliability of internal consistency were tested. Correlation analysis and exploratory factor analysis were used to evaluate the validity of the questionnaire.Results:The questionnaire on PBL of Neurology included three first-level indicators: teaching plan quality evaluation, teaching method evaluation and teaching quality evaluation, containing 6 second-level indicators and 25 third-level indicators. The correlation coefficient ρ=0.990 ( P<0.01) showed that the retest reliability was good. The cronbach's α coefficient is 0.901, meeting the internal consistency reliability requirement. And the content validity correlation coefficient was 0.307-0.7 ( P<0.05), indicating that each third-level index had a significant correlation with the total score, and the questionnaire item design was good. The three first-level indicators were used as common factors to evaluate the structural validity by exploratory factor analysis and identify the direction of optimization. Conclusion:The questionnaire has good reliability and validity, which can be used as a tool for scientific evaluation on PBL of neurology, and also provide an optimization direction for further research in the future.