Objective To develop a standardized evaluation index system for assessing teaching quality in clinical teach-ing bases,providing a framework for self-assessment and continuous improvement.Methods An initial set of evaluation indica-tors was developed through a comprehensive literature review.Using the Delphi method,expert opinions were collected via struc-tured questionnaires from 22 specialists in the field.Indicator weights were determined through the fuzzy comprehensive evaluation method.The evaluation frequency and interpretive meaning of each indicator were subsequently established.Results A hierar-chical evaluation index system was constructed,consisting of 3 primary indicators,7 secondary indicators,and 17 tertiary indica-tors.The weight and significance of each indicator were defined.Based on expert consensus,it is recommended that evaluations be conducted once per academic semester.Conclusion The proposed evaluation index system aligns with both clinical and edu-cational principles,features comprehensive and practical content,and is well-suited for self-assessment by clinical teaching ba-ses.It provides a robust reference for enhancing the overall quality of clinical education.

Objective To develop a standardized evaluation index system for assessing teaching quality in clinical teach-ing bases,providing a framework for self-assessment and continuous improvement.Methods An initial set of evaluation indica-tors was developed through a comprehensive literature review.Using the Delphi method,expert opinions were collected via struc-tured questionnaires from 22 specialists in the field.Indicator weights were determined through the fuzzy comprehensive evaluation method.The evaluation frequency and interpretive meaning of each indicator were subsequently established.Results A hierar-chical evaluation index system was constructed,consisting of 3 primary indicators,7 secondary indicators,and 17 tertiary indica-tors.The weight and significance of each indicator were defined.Based on expert consensus,it is recommended that evaluations be conducted once per academic semester.Conclusion The proposed evaluation index system aligns with both clinical and edu-cational principles,features comprehensive and practical content,and is well-suited for self-assessment by clinical teaching ba-ses.It provides a robust reference for enhancing the overall quality of clinical education.

OBJECTIVE: To detect potential variation in glutaryl-CoA dehydrogenase (GCDH) gene among three Chinese families affected with glutaric acidemia type Ⅰ(GA-1) and correlate the genotypes with phenotypes. METHODS: Genomic DNA was extracted from peripheral blood samples derived from three patients with GA-1 and their family members. The coding regions of the GCDH gene were amplified with PCR and subjected to Sanger sequencing. RESULTS: The clinical manifestation of the patients varied from macrocephaly to severe encephalopathy, with notable phenotypic difference between siblings carrying the same variation. In pedigrees 1 and 2, the probands have carried compound heterozygous variations c.1133C>T(p.Ala378Val) and c.1244-2A>C, which were derived their fathers and mothers, respectively. In pedigree 3, the proband has carried compound heterozygous variation c.339delT (p.Tyr113) and c.406G>T (p.Gly136Cys). Among these, variations c.339delT and c.1133C>T were verified as novel by retrieval of dsSNP, HGMD and 1000 genome database. Bioinformatic analysis suggested that above variations can affect protein function and are probably pathogenic. CONCLUSION Above discovery has expanded the mutation spectrum of the GCDH gene. No correlation was found between the clinical phenotype and genotype of GA-1 patients.
Amino Acid Metabolism, Inborn Errors ; diagnosis ; genetics ; Brain Diseases, Metabolic ; diagnosis ; genetics ; China ; DNA Mutational Analysis ; Glutaryl-CoA Dehydrogenase ; deficiency ; genetics ; Humans ; Mutation

MicroRNAs (miRNAs), with 19-25 nucleotides in length, are small non-coding single-stranded RNAs and play an important role in a variety of organisms cell growth, differentiation, proliferation and apoptosis, fat metabolism and other physiological processes. Numerous studies have shown that the deregulation of miRNAs was associated with progression, prognosis and drug resistance of chronic lymphocytic leukemia (CLL). MiR-15a/16-1 cluster, miRs-34b/c , miR-181b, miR-29, miR-3676, miR-17/92 and miR-155 family members were the most common deregulated miRNAs in CLL, which could regulate important gene expressions. To further clarify molecular mechanism of occurrence and development of CLL, this review focuses on recent advances on the regulatory networks of related miRNAs as well as the integration with other regulators.

OBJECTIVETo review the clinical features of a families affected with glutaric acidemia type I (GA-1) and screen potential mutations in glutaryl-CoA dehydrogenase (GCDH) gene.

METHODSClinical data of the patients and their family members was analyzed. Genomic DNA was extracted from peripheral blood samples. The 11 exons and flanking sequences of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing.

RESULTSTwo patients have manifested macrocephaly. Imaging analysis revealed arachnoid cyst and subdural effusion. The elder sister had encephalopathy crisis. The younger sister had significantly raised glutaric acid, whilst the elder sister was normal during the non-acute phase. Genetic analysis has revealed a homozygous c.1244-2A> C mutation of the GCDH gene in both patients.

CONCLUSIONThe clinical features and mutation of the GCDH gene have been delineated in a Chinese family affected with GA-1. The c.1244-2A> C mutation may be particularly common in the Chinese population.

Adolescent ; Amino Acid Metabolism, Inborn Errors ; diagnostic imaging ; enzymology ; genetics ; Base Sequence ; Brain Diseases, Metabolic ; diagnostic imaging ; enzymology ; genetics ; China ; DNA Mutational Analysis ; Family Health ; Female ; Genetic Predisposition to Disease ; genetics ; Glutaryl-CoA Dehydrogenase ; deficiency ; genetics ; Homozygote ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Mutation ; Radiography