1.The Development of Clinical Document Standards for Semantic Interoperability in China.
Peng YANG ; Feng PAN ; Danhong LIU ; Yongyong XU ; Yi WAN ; Haibo TU ; Xuejun TANG ; Jianping HU
Healthcare Informatics Research 2011;17(4):205-213
OBJECTIVES: This study is aimed at developing a set of data groups (DGs) to be employed as reusable building blocks for the construction of the eight most common clinical documents used in China's general hospitals in order to achieve their structural and semantic standardization. METHODS: The Diagnostics knowledge framework, the related approaches taken from the Health Level Seven (HL7), the Integrating the Healthcare Enterprise (IHE), and the Healthcare Information Technology Standards Panel (HITSP) and 1,487 original clinical records were considered together to form the DG architecture and data sets. The internal structure, content, and semantics of each DG were then defined by mapping each DG data set to a corresponding Clinical Document Architecture data element and matching each DG data set to the metadata in the Chinese National Health Data Dictionary. By using the DGs as reusable building blocks, standardized structures and semantics regarding the clinical documents for semantic interoperability were able to be constructed. RESULTS: Altogether, 5 header DGs, 48 section DGs, and 17 entry DGs were developed. Several issues regarding the DGs, including their internal structure, identifiers, data set names, definitions, length and format, data types, and value sets, were further defined. Standardized structures and semantics regarding the eight clinical documents were structured by the DGs. CONCLUSIONS: This approach of constructing clinical document standards using DGs is a feasible standard-driven solution useful in preparing documents possessing semantic interoperability among the disparate information systems in China. These standards need to be validated and refined through further study.
Asian Continental Ancestry Group
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China
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Delivery of Health Care
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Electronic Health Records
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Health Level Seven
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Hospitals, General
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Humans
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Information Systems
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Semantics
2.Professor YANG Danhong's Experience in Treating Pain through the Meridian Acupuncture Method
Xinyi ZHAO ; Yu-Zhen TANG ; Danhong YANG
Journal of Zhejiang Chinese Medical University 2023;47(12):1476-1478,1484
[Objective]To summarize Professor YANG Danhong's clinical experience in the treatment of pain.[Methods]Through learning from teacher,reviewing ancient books and modern literature research,based on the pathogenesis of pain,the theoretical basis of Professor YANG's meridian acupuncture method and its application prospect for the treatment of pain were discussed.Two clinical medical cases were cited to support.[Results]The mechanism of pain is"obstruction leads to pain"and"malnutrition leads to pain",mainly because the Qi mechanism does not run smoothly.Professor YANG believes that the treatment should be aimed at smoothing the Qi mechanism.Based on the theory of"Gen-Jie"and"Genliu Zhuru"in Huangdi Neijing,the meridian acupuncture method named"the meridian acupuncture method"are proposed for pain.It is also treated according to Professor YANG's own clinical experience and combining with the piercing method.The acupuncture method,which emphasizes the theory of the treatment based on the channel's differentiation of pain,takes the head and tail points of the meridians passed by the disease position.After quickly twisting and getting Qi,and the well points are blooded.The two medical cases attached were caused by obstruction of Qi mechanism.The treatment took the first and last points of the meridians through the meridian acupuncture method,so that Qi and blood could be carried out and the pain was cured.[Conclusion]Professor YANG pays attention to the theory of the treatment based on the channel's differentiation of pain,and emphasizes the combination of the first and last points and the well points.Cooperated with the pricking collaterals therapy to strengthen the circulation of Qi and regulating Qi and blood,the effect was quite good,which was worthy of clinical promotion.
3.Evaluation of reliability and validity of learning attitude scale among nurses in continuing nursing education
Danhong TANG ; Xuehua WU ; Lin LIN ; Yuxian XIE ; Haiyan HE ; Yan HE
Chinese Journal of Modern Nursing 2017;23(5):728-730
Objective To evaluate the validity and reliability of learning attitude scale among nurses in continuing nursing education in hospital.Methods We designed a nurse learning attitude scale in continuing education on the basis of a learning attitude questionnaire for teacher-training by Jiao Weiting. In July 2015, totally 207 nurses of the Third Hospital of Mianyang who received continuing education in hospital were selected as the research object by cluster sampling method. We investigated their learning attitudes. The reliability of the scale was assessed by Cronbach's α coefficient and test-retest reliability. The validity was assessed by factor analysis and Pearson's correlation.Results The test-retest reliability of the scale were as the following:cogni-tive level (0.82),experience of emotion (0.89),tendency of behavior (0.91),total scale (0.88);Cronbach's α co-efficients were as the following:cognitive level (0.85),experience of emotion (0.94),tendency of behavior (0.83), total scale (0.89). According to the result of Pearson's correlation,the total scale of learning attitude exhibited a positive correlation with cognitive level,experience of emotion and tendency of behavior (P<0.01). Four prin-cipal components were extracted by factor analysis and the constructs of the instrument obtained were consistent with the conceived concept in essence.Conclusions The scale learning attitude could measure the learning attitude of nurses in continuing nursing education with better reliability and validity.
4.Lethal mitochondrial trifunctional protein deficiency: a case report and literature review
Danhong WANG ; Yu TANG ; Qinyang CUI ; Jun LU
Chinese Journal of Neonatology 2024;39(4):213-218
Objective:To explore the clinical phenotype, diagnosis, treatment and genetic characteristics of infants with lethal mitochondrial trifunctional protein deficiency (MTPD).Methods:The clinical data of one patient with lethal MTPD admitted to the neonatal department of Guilin Maternal and Child Health Hospital were retrospectively analyzed. Relevant literature published up to July 2023 were retrieved from the Chinese Science and Technology Journal database, CNKI, Wanfang Database, Chinese Medical Journal Full-text Database, Chinese Biomedical Journal Literature Database, China Biomedical Literature Database, PubMed, Elsevier ScienceDirect, Embase and BIOSIS Previews with the terms of "mitochondrial trifunctional protein deficiency", "mitochondrial trifunctional protein", "HADHA", "HADHB", "newborn", "infant" and "lethal". Then the characteristics of clinical phenotypes and genetic variations about MTPD infants were summarized.Results:This patient was a 33 +3 week premature male infant who developed symptoms 9 d after birth. The main manifestations were metabolic acidosis, recurrent apnea, shock, cardiomyopathy and heart failure. Blood tandem mass spectrometry reported an increased levels of multiple acylcarnitines, and genetic testing indicated that the patient's HADHB gene had maternal c.527C>G missense mutation and de novo c.1148C>T missense mutation. The infant was diagnosed with lethal MTPD and died 12 d after birth after his family gave up the treatment. There were 29 cases in the total 13 publications that were retrieved. Together with this case, there were 30 cases involved. Among the 16 cases with relatively complete data, 10 cases were male and 15 cases developed symptoms in neonatal period. The main clinical phenotypes were cardiomyopathy, abnormal myocardial enzyme spectrum, heart failure and lactic acidosis or metabolic acidosis. Among the 15 cases with clear age of death, 14 died within 3 months of life. Of the reported patients, only one survived at 8 years of age. 29 cases were confirmed through genetic test, 10 infants had HADHA gene variations and 19 had HADHB gene variations. Only one patient was confirmed by pathological detection and mass spectrometry analysis. Conclusions:MTPD is a rare autosomal recessive genetic disease. Lethal MTPD has an early onset with high mortality. Severe acidosis and heart failure are the most common symptoms in neonatal period. Early detection of acylcarnitine and HADHB, HADHA gene should be performed in highly suspected infants to help early genetic diagnosis and intervention.
5.Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients
Ying TANG ; Yongbo ZHANG ; Danhong WU ; Yanhong LIN ; Fenghua LAN
Journal of Peking University(Health Sciences) 2024;56(5):763-774
Objective:To detect the cystic fibrosis transmembrane transduction regulator(CFTR)gene mutations and congenital bilateral absence of vas deferens(CBAVD)susceptibility gene mutations in pa-tients with CBAVD,and to explore their association with the risk of CBAVD.Methods:Whole-exome sequencing and Sanger sequencing validation were conducted on the pathogenic genes CFTR,adhesion G protein-coupled receptor G2(ADGRG2),sodium channel epithelial 1 subunit beta(SCNN1B),carbonic anhydrase 12(CA12),and solute carrier family 9 member A3(SLC9A3)in thirteen cases of isolated CBAVD patients.The polymorphic loci,intron and flanking sequences of CFTR gene were amplified by polymerase chain reaction(PCR)followed by Sanger sequencing.Bioinformatics methods were employed for conservative analysis and deleterious prediction of novel susceptibility gene mutations in CBAVD.Ge-netic analysis was performed on the pedigree of one out of thirteen patients with CBAVD to evaluate the risk of inheritance in offspring.Results:Exome sequencing revealed CFTR gene exon mutations in only six of the thirteen CBAVD patients,with six missense mutations c.2684G>A(p.Ser895Asn),c.4056G>C(p.Gln1352His),c.2812G>(p.Val938Leu),c.3068T>G(p.Ile1023Arg),c.374T>C(p.Ile125Thr),c.1666A>G(p.Ile556Val)),and one nonsense mutation(c.1657C>T(p.Arg553Ter).Among these six patients,two also had the CFTR homozygous p.V470 site,additional-ly,mutations in CFTR gene exon regions were not detected in the remaining seven patients.Within the thirteen CBAVD patients,three carried the homozygous p.V470 polymorphic site,four carried the 5T al-lele,two carried the TG13 allele,and ten carried the c.-966T>G site.Four CBAVD patients simulta-neously carried 2-3 of the aforementioned CFTR gene mutation sites.Susceptibility gene mutations in CBAVD among the thirteen patients included one ADGRG2 missense mutation c.2312A>G(p.Asn771Ser),two SLC9A3 missense mutations c.2395T>C(p.Cys799Arg),c.493G>A(p.Val165Ile),one SCNN1B missense mutation c.1514G>A(p.Arg505His),and one CA12 missense mutation c.1061C>T(p.Ala354Val).Notably,the SLC9A3 gene c.493 G>A(p.Val165Ile)mutation site was first identi-fied in CBAVD patients.The five mutations exhibited an extremely low population mutation frequency in the gnomAD database,classifying them as rare mutations.Predictions from Mutation Taster and Poly-phen-2 software indicated that the harmfulness level of the SLC9A3 gene c.493G>A(p.Val165Ile)site and the SCNN1B gene c.1514G>A(p.Arg505His)site were disease causing and probably damaging.The genetic analysis of one pedigree revealed that the c.1657C>T(p.Arg553Ter)mutation in the proband was a de novo mutation,as neither the proband's father nor mother carried this mutation.The proband and his spouse conceived a daughter through assisted reproductive technology,and the daughter inherited the proband's pathogenic mutation c.1657C>T(p.Arg553Ter).Conclusion:CFTR gene mutations remain the leading cause of CBAVD in Chinese patients;however,the distribution and fre-quency of mutations differ from data reported in other domestic and international studies,highlighting the need to expand the CFTR mutation spectrum in Chinese CBAVD patients.The susceptibility genes ADGRG2,SLC9A3,SCNN1B,and CA12 may explain some cases of CBAVD without CFTR mutations.Given the lack of specific clinical manifestations in CBAVD patients,it is recommended that clinicians conduct further physical examinations and consider scrotal or transrectal ultrasound before making a defi-nitive diagnosis.It is advisable to employ CFTR gene mutation testing in preconception genetic screening to reduce the risk of CBAVD and cystic fibrosis in offspring.