ABSTRACT
There is uniformed definition of rare diseases in children, which can be viewed as rare diseases that develop in childhood, or the childhood of patients with rare diseases. Rare diseases are rarely seen in clinical setting, various in types and difficult to diagnose and treat. In the past few years, with the rapid development of medical technology and the establishment and wide application of rare disease management systems, great progress has been made in the diagnosis and treatment of rare diseases. Although the management of rare diseases is being gradually expanded and enhanced, there are still challenges, or opportunities for further improvement. China is a vast country with imbalanced distribution of medical resources. In many places, people have limited knowledge about the pathogenesis of many rare diseases. Capacities vary in the detection, diagnosis, and treatment of rare disease in different places. As a result, most rare diseases are either misdiagnosed or not diagnosed at all. Therefore, it is of great significance to establish a hierarchical system for the management of rare diseases, i.e., appropriate triage, risk stratification, early diagnosis and scientific treatment, and integrate regional resources into rare disease management. Studies have confirmed the existance of heterogeneity of rare diseases, with more than half of them occurring at birth or in childhood and that they are associated with a high mortality rate and a high incidence of functional disabilities in survivors. Therefore, rare diseases in child-ren deserve more attention. Standardized, protocol-based, law-based management of rare diseases in children is in urgent need. The article aims to discuss the status quo of the management of rare diseases in children, to summarize the clinical progress of rare diseases in children and to explore its prospects in the future, in the hope to provide some reference for the management of rare diseases in children.
ABSTRACT
Objective To explore the association of T cell immunoglobulin- and mucin-domain-containing molecule-3 (TIM-3) gene polymorphism and IFN-γ levels with the incidence of primary nephrotic syndrome (PNS) in children. Methods A case-control study was conducted and 21 Han patients with PNS were selected and included in case group. Meanwhile, 20 each from Mongolian and Han were selected and assigned into control group and at least three generations of their family members were from the same nationality. PCR-restriction fragment polymorphism analysis was used to detect and analyze single nucleotide polymorphisms of exon -574A/C in TIM-3 gene in PNS children and controls. Also the genotype and allele frequencies between the two groups were compared. Enzyme linked immunosorbent assay (ELISA) was used to detect the level of serum IFN-γ and its changes was analyzed. Results There was no significant difference in the distribution of genotypes (AA, AC, CC) of exon -574A/C in TIM-3 gene between the Han and Mongolian subgroups in control group (P=0.741). Neither did the allele frequency between the two groups (P=0.655). Compared with control group (Han and Mongolian), the frequencies of AA, AC and CC genotypes were 9.52%, 28.57% and 61.90% respectively in -574A/C loci of the Han nationality children with PNS. There was significant difference in genotypes distribution between the two groups (P=0.017). The frequency of C allele in PNS children of Han nationality was 76.2% which was higher than that in normal control group (50%), and the difference was statistically significant (P=0.005). Compared with A allele carriers, the risk of PNS in C allele carriers increased by 3.20 times (95%CI: 1.39～7.37). There were no significant differences in serum IFN-γ among the Han nationality with PNS, Han and Mongolian normal control groups (P>0.05). Conclusion The single nucleotide polymorphism of the exon -574A/C of TIM-3 gene may be related to the pathogenesis of PNS in children. In addition, IFN-γ is not associated with the incidence of primary nephrotic syndrome in children.
ABSTRACT
Objective To discuss the core professional values of nursing(CPVN) in modern China and further promote the education of CPVN. Methods 622 clinical nurses and nursing students were re-cruited to participate the questionnaire survey to explore the understanding of CPVN. Results The top five CPVN were responsibility, accountability, aptitude, professionalism and ethics. Conclusions CPVN should be established based on the development of the times and national conditions in order to improve the overall level of nursing profession in China.
ABSTRACT
Objective To analyse the dynamic changes of cardiac diseases over the past 30 years. Method All hospitalized patients of internal medicine department over the past 30 years in the 2nd Xiangya Hospital of Central South University were analyzed in order to understand the dynamic changes of cardiac diseases. Results The results showed the proportion of the heart diseases to all medical diseases was gradually increased during the past three decades. The constitution ratio of the classification of the heart disease was also changing continuously and progressively, with coronary heart disease ranking the first and, in contrast, rheumatic heart disease the second since 1980s. Meanwhile, the number and the proportion of the patients with cardiomyopathy and arrhythmias of unknown causes were increased. Anemic heart disease and cardiovascular syphilis had been wiped out since 1980s and 1990s respectively. Conclusion Classification of cardiac diseases changes gradually and continually during the past 30 years.