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The inositol polyphosphate-5-phosphatase ( INPP5E) gene encodes INPP5E, which is widely distributed in various tissues of humans and mice like the heart, brain and testis.It affects the phosphoinositide metabolic pathway by regulating the intracellular phosphatidylinositol triphosphate content, thus participating in intracellular signal transduction, cell proliferation and differentiation, cell polarity and other processes.The INPP5E gene plays a pivotal role in primary ciliogenesis and is closely related to childhood ciliary diseases.Therefore, this article review the research progress of the INPP5E gene in primary cilium-related pediatric diseases.Combined with laboratory findings, this review aims to provide new ideas for the regulation of the INPP5E gene in primary cilia and the prevention and treatment of pediatric ciliopathies.
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Objective:To compare the clinical features, laboratory test results and imaging findings between cases of Mycoplasma pneumoniae ( Mp) infection complicated by coagulation dysfunction and isolated Mp infection, and analyze the predictive value of related indicators for Mp infection with coagulation dysfunction. Methods:A total of 65 cases of Mp infection complicated by coagulation dysfunction (case group) and 92 cases of isolated Mp infection (control group) treated in the Children′s Hospital Affiliated to Capital Institute of Pediatrics in 2021 were enrolled. Clinical data of the two groups were compared, and receiver operating characteristic (ROC) curves were drawn to analyze the predictive value of differential indicators to the case group. Results:There were no significant differences in the general clinical features or imaging findings between the case group and the control group. The levels of fibrinogen (FIB), D-Dimer, fibrinogen degradation product (FDP), IgE, lactic dehydrogenase (LDH), alanine transaminase (ALT), aspartate aminotransferase (AST), adenosine deaminase (ADA) and C-reactive protein (CRP), activated partial thromboplastin time (APTT), thrombin time (TT), blood platelet count (PLT), neutrophil count, length of hospital stay, peak body temperature, and duration of cough and fever in the case group were higher than those in the control group, and the differences were statistically significant ( P<0.05). The areas under ROC curves of LDH, CRP, peak body temperature, ADA, ALT, neutrophil count, AST and IgE for predicting Mp infection complicated by coagulation dysfunction were 0.855, 0.810, 0.730, 0.716, 0.692, 0.648, 0.631 and 0.603, respectively. The area under ROC curve of LDH, CRP and peak body temperature used in combination was 0.901. Conclusions:LDH, CRP, peak body temperature, ADA, ALT, neutrophil count, AST and IgE had predictive value for Mp infection complicated by coagulation dysfunction, among which LDH, CRP and peak body temperature had higher predictive value. LDH, CRP and peak body temperature used in combination had the highest diagnostic value (AUC=0.901).
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PBL (Problem-based learning) is a kind of teaching method, which is helpful for guiding students to solve practical and complex problems. The compiling of PBL teaching plans is the key to the implementation of PBL teaching. According to the teaching outline of internal medicine, we set the PBL teaching plan, formulated the teaching goal, collected the clinical real cases, finished the compiling of PBL cases of student version and teacher version, and preceded teaching practice accord-ing to the PBL cases. Improving and constructing the compiling framework of internal medicine PBL teaching plan laid the theoretical foundation for carrying out internal medicine PBL teaching.
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Objective To detect the genomic copy number variations(CNVs) of mice embryonic neural tissue with neural tube defects (NTDs) induced by methotrexate (MTX),and investigate the molecular genetic mechanisms between folic acid metabolism disorders and NTDs pathogenesis.Methods C57BL/6J NTD mice model was induced by MTX on gestational day 7.5,and the maternal serum and NTD embryonic neural tissues were collected;the array-comparative genomic hybridization(array-CGH) assay was utilized to analyze the whole genomic CNVs in NTD embryonic neural tissues;reverse transcription polymerase chain reaction(RT-PCR) was used to confirm the positive results;the maternal serum concentrations of folic acid and related metabolites and dihydrofolate reductase (DHFR) activity were detected by liquid chromatography-tandem mass spectrometry and enzymatic methods,respectively.Results ArrayCGH and RT-PCR results showed the 3 high confidence CNVs on XqE3,XqA1.1-qA2 and XqA1.1 in the NTD embryonic neural tissues.The NTD maternal serum concentrations of 5-methyltetrahydrofolate,5-formyltetrahydrofolic acid,S-adenosyl methionine and DHFR activity were reduced significantly compared with the control group,and there were statistical differences(all P <0.05).Conclusions There are obvious CNVs in embryonic neural tissue of NTD mice induced by MTX and folic acid dysmetabolism might cause mice embryonic neural tube developmental disorders through CNVs.
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Objective struclured clinical examination (OSCE) is a kind of examination which could objectively evaluate the students′clinical skills.Nowadays,OSCE are wildly applied in medical educational field throughout the world.Timely discussion and analysis on the problems existed in the implementation process of OSCE is necessary.Measures should be taken to improve the OSCE examination and to meet the requirements of higher clinical practice training level such as increasing clinical skill simulation training hardware investment,optimizing settings and conlents of the examination and the test stations as well as introducing standardized patients (SP) and other measures.
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Using new tape of teaching models in modern medical science education is a trend for medicine development.Investigating medical students’approbation degree and attitudes towards the teaching models,analyzing and resolving the problems about that will provide the valuable reference to reforming the medical education and fostering qualified practitioners.