Objective:To investigate the changes in thyroid hormone levels and inflammatory markers in critically ill children，analyze their correlation with disease severity，and explore their potential impact on prognosis,providing references for clinical management and prognosis assessment in critical illness.Methods:A retrospective cohort study was conducted involving 394 pediatric patients admitted to the ICU of the Capital Pediatric Institute Affiliated Children's Hospital from 2019 to 2023.Based on the pediatric critical illness score,patients were divided into three groups:the extremely critical group (score ≤ 70, n=81),the critical group (score 71–80, n=150),and the non-critical group (score>80, n=163).Data collected included thyroid function indicators，inflammatory markers[C-reactive protein（CRP)，procalcitonin(PCT),tumor necrosis factor(TNF)-α，interleukin (IL)，etc.]，clinical information，and outcomes.The correlation between thyroid function indicators and inflammatory markers were analyzed.The predictive value of thyroid function indicators and inflammatory markers for prognosis in critically ill pediatric patients was assessed. Results:Of the 394 children,non-thyroidal disease syndrome occurred in 321 cases,with an overall incidence of 81.5%,which increased with disease severity.Thyroid hormone [total triiodothyronine (TT3),free triiodothyronine (FT3),and total tetraiodothyronine (TT4)] levels were significantly lower in the extremely critical group than in the other groups ( P<0.05).Inflammatory markers such as CRP,PCT,TNF-α,IL-6,IL-8,and IL-10 were significantly higher in the extremely critical group than in the other groups ( P<0.05).Thyroid hormones were negatively correlated with inflammatory markers,and the receivor operating characteristic curves analysis indicated that TT3,FT3,IL-6 and IL-8 levels,could effectively differentiate disease prognosis.Univariate regression model showed significant associations between TT3,FT3,TT4,PCT,IL-8,and IL-10 and disease prognosis.The multivariate Logistic regression model showed IL-6 and IL-8 were independent predictors of disease prognosis. Conclusion:Significant reductions in thyroid hormone levels are closely related to disease severity and poor prognosis.Changes in inflammatory markers reflect the inflammatory state and severity of the disease and impact prognosis.Monitoring thyroid function and inflammatory status is important in clinical management，which provids new insights into prognosis assessment and treatment strategies for critically ill children.

Objective To screen the mutations of ABCC8 gene in probands of maturity-onset diabetes of the young pedigrees,and investigate it sgenetic and clinical characteristics.Methods Whole exome sequencing were performed to screen ABCC8 mutations in 56 MODY probands who were admitted to Department of Endocrinology and Metabolism,Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from July 2021 to December 2023.The mutations were verified by Sanger sequencing,and all participants were genotyped.Clinical phenotypes of the mutation carriers were compared with non-DM controls within the families.The identified mutations were evaluated by bioinformatic softwires.Then the pharmacogenomic characteristics of the mutation carriers were analyzed.Results Two heterozygous mutations D655V and R825Q were identified in two MODY probands and their families respectively,and the D655V was a novel mutation.Bioinformatics studies showed that both mutations were deleterious and pathogenic.In comparison with non-DM controls in the two families,mutation carriers with diabetes exhibited significantly lower fasting insulin/fasting plasma glucose,two-hour postprandial insulin/two-hour postprandial insulin plasma glucose,homeostatic model assessment-β(P<0.05).Treatment with oral hypoglycemic agents such as metformin or insulin in these mutation carriers resulted in a moderate reduction in plasma glucose levels.However,switching to targeted Sulfonylurea's(SUs)proved to be more effective.Conclusions In this study,the prevalence of MODY12 is 3.6%in these MODY pedigrees.The remarkable hypoglycemic efficacy of SUs suggests that both D655V and R825Q were activating mutations of ABCC8,and maybe the cause of MODY12 characterized by impaired insulin secretion.

Objective:To investigate the changes in thyroid hormone levels and inflammatory markers in critically ill children，analyze their correlation with disease severity，and explore their potential impact on prognosis,providing references for clinical management and prognosis assessment in critical illness.Methods:A retrospective cohort study was conducted involving 394 pediatric patients admitted to the ICU of the Capital Pediatric Institute Affiliated Children's Hospital from 2019 to 2023.Based on the pediatric critical illness score,patients were divided into three groups:the extremely critical group (score ≤ 70, n=81),the critical group (score 71–80, n=150),and the non-critical group (score>80, n=163).Data collected included thyroid function indicators，inflammatory markers[C-reactive protein（CRP)，procalcitonin(PCT),tumor necrosis factor(TNF)-α，interleukin (IL)，etc.]，clinical information，and outcomes.The correlation between thyroid function indicators and inflammatory markers were analyzed.The predictive value of thyroid function indicators and inflammatory markers for prognosis in critically ill pediatric patients was assessed. Results:Of the 394 children,non-thyroidal disease syndrome occurred in 321 cases,with an overall incidence of 81.5%,which increased with disease severity.Thyroid hormone [total triiodothyronine (TT3),free triiodothyronine (FT3),and total tetraiodothyronine (TT4)] levels were significantly lower in the extremely critical group than in the other groups ( P<0.05).Inflammatory markers such as CRP,PCT,TNF-α,IL-6,IL-8,and IL-10 were significantly higher in the extremely critical group than in the other groups ( P<0.05).Thyroid hormones were negatively correlated with inflammatory markers,and the receivor operating characteristic curves analysis indicated that TT3,FT3,IL-6 and IL-8 levels,could effectively differentiate disease prognosis.Univariate regression model showed significant associations between TT3,FT3,TT4,PCT,IL-8,and IL-10 and disease prognosis.The multivariate Logistic regression model showed IL-6 and IL-8 were independent predictors of disease prognosis. Conclusion:Significant reductions in thyroid hormone levels are closely related to disease severity and poor prognosis.Changes in inflammatory markers reflect the inflammatory state and severity of the disease and impact prognosis.Monitoring thyroid function and inflammatory status is important in clinical management，which provids new insights into prognosis assessment and treatment strategies for critically ill children.

Objective To screen the mutations of ABCC8 gene in probands of maturity-onset diabetes of the young pedigrees,and investigate it sgenetic and clinical characteristics.Methods Whole exome sequencing were performed to screen ABCC8 mutations in 56 MODY probands who were admitted to Department of Endocrinology and Metabolism,Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from July 2021 to December 2023.The mutations were verified by Sanger sequencing,and all participants were genotyped.Clinical phenotypes of the mutation carriers were compared with non-DM controls within the families.The identified mutations were evaluated by bioinformatic softwires.Then the pharmacogenomic characteristics of the mutation carriers were analyzed.Results Two heterozygous mutations D655V and R825Q were identified in two MODY probands and their families respectively,and the D655V was a novel mutation.Bioinformatics studies showed that both mutations were deleterious and pathogenic.In comparison with non-DM controls in the two families,mutation carriers with diabetes exhibited significantly lower fasting insulin/fasting plasma glucose,two-hour postprandial insulin/two-hour postprandial insulin plasma glucose,homeostatic model assessment-β(P<0.05).Treatment with oral hypoglycemic agents such as metformin or insulin in these mutation carriers resulted in a moderate reduction in plasma glucose levels.However,switching to targeted Sulfonylurea's(SUs)proved to be more effective.Conclusions In this study,the prevalence of MODY12 is 3.6%in these MODY pedigrees.The remarkable hypoglycemic efficacy of SUs suggests that both D655V and R825Q were activating mutations of ABCC8,and maybe the cause of MODY12 characterized by impaired insulin secretion.

ObjectiveTo investigate the association between the risk of increase in total cholesterol （TC） and the risk of cholelithiasis by using bidirectional Mendelian randomization （MR）. MethodsThe open gwas public database was used to obtain the single nucleotide polymorphism data associated with TC and cholelithiasis， and a secondary data analysis was performed for all summary data of genome-wide association studies. The genetic loci closely associated with TC or cholelithiasis were selected as exposure or outcome variables， and the bidirectional MR analysis was performed using the methods such as Egger regression， Weighted median， IVW random effects model， and IVW fixed effects model， with odds ratio （OR） values for evaluating the causal relationship between TC and cholelithiasis. ResultsWith TC as the exposure and cholelithiasis as the outcome， TC-cholelithiasis had an overall OR value of 0.91 （95% confidence interval ［CI］： 0.85‍ ‍—‍ ‍0.97） before elimination of heterogeneity and 0.93 （95%CI： 0.89‍ ‍—‍ ‍0.97） after elimination of heterogeneity. With cholelithiasis as the exposure and TC as the outcome， TC-cholelithiasis had an overall OR value of 0.20 （95%CI： 0.06‍ ‍—‍ ‍0.65） before elimination of heterogeneity and 0.28 （95%CI： 0.10‍ ‍—‍ ‍0.83） after elimination of heterogeneity. There was a bidirectional causal relationship between genetically predicted TC and cholelithiasis. ConclusionThis study confirms the bidirectional causal relationship between TC and cholelithiasis. The risk of cholelithiasis decreases with the increase in alleles associated with the elevation of TC level； on the contrary， the risk of elevated TC level decreases with the increase in alleles associated with the onset of cholelithiasis.

Objective To explore the association between R611H(G/A,rs734312)variation of WFS1 gene and early-onset type 2 diabetes mellitus(T2DM).Methods A total of 181 Chinese patients with early-onset T2DM(T2DM group)and 196 non-diabetic controls(NC group)were enrolled in this study.The rs734312 variation was detected by PCR-direct sequencing.Genotypic and allelic frequencies of rs734312 and clinical variables were compared and analyzed between the two groups.Results Compared with the NC group,the frequencies of AA genotype and A allele in R611H(G→A)variation were significantly elevated in the early-onset T2DM group,AA vs GA+GG(OR 1.720,95%CI 1.100～2.680,P<0.05).A vs G(OR 1.500,95%CI 1.020～2.220,P<0.05).The remarkable differences of frequencies of genotype and allele in rs734312(G/A)were observed between Asians(China,Japan and Korea)and Caucasians(Denmark,Britain,Spain,France and Russia,P<0.01 for each).Compared with AA genotype,fasting and 2 hours postprandial insulin(FIns and 2 hIns)as well as HOMA-β were significantly rise in GG+GA genotype carriers of early-onset T2DM group(P<0.05).Conclusions The a allele of rs734312 in WFS1 may be a risk factor for early-onset T2DM in Chinese population,and the variation might be a potential genetic marker for predicting the islet β-cell dysfunction in early-onset T2DM in Chinese population.

Objective:To investigate the criteria for two-way referral of diabetes in China through systematic review.Methods:According to inclusion and exclusion criteria, articles on two-way referral criteria for diabetes in China were retrieved from databases of PubMed, Embase, Cochrane Library, CNKI and Wanfang from inception to July 15, 2023. The data were extracted, by author′s name, publish year, criteria for rupwards and downwards referral, sample size, study region, study type and main conclusions.Results:A total of 702 relavent articles were retrieved, and 15 of which were included in the analysis. Blood glucose levels were the basic criteria for two-way referral, The criteria for upward referral included fasting blood glucose, 2-h postpradial blood glucose, glycosylated hemoglobin and random blood glucose, but there were variations in measuement values. The criteria for downward referral included fasting blood glucose, 2-h postpradial blood glucose, glycosylated hemoglobin, with the variation in fasting blood glucose. Lipids and blood pressure were also included in the referral criteria in later literature, with the variation of blood pressure values. There was consensus on the upward referral criteria for patients with special types of diabetes and with newly diagnosed diabetes. In contrast, the referral criteria for diabetic complications were relatively vague, especially with the lack of severity classification for chronic complications.Conclusion:The two-way referral criteria for diabetes mellitus have been constantly developing, while the criteria for downwards referral to the community need to be further improved.

Objective:To explore the clinical characteristics, pathological features, and diagnosis and treatment strategies of nasal chondromesenchymal hamartoma (NCMH) in infants and young children.Methods:A retrospective analysis was conducted on seven cases of NCMH infants and young children admitted to Beijing Children′s Hospital, Capital Medical University from April 2015 to January 2022. The cohort included 5 males and 2 females, aged from 6 days to 2 years and 3 months. General information, clinical symptoms, imaging findings, treatment plans, postoperative complications, recurrence and follow-up time were collected, summarized and analyzed. Additionally, immunohistochemical characteristics of the lesion were examined.Results:The clinical symptoms of 7 children included nasal congestion, runny nose, open mouth breathing, snoring during sleep, difficulty feeding, and strabismus. All patients underwent electronic nasopharyngoscopy examination, with 5 cases of tumors located in the right nasal cavity and 2 cases in the left nasal cavity. No case of bilateral nasal cavity disease was found. All 7 patients underwent complete imaging examinations, with 5 patients underwent MRI and CT examinations, 1 patient underwent CT examination only, and 1 patient underwent MRI examination only. The CT results showed that all tumors were broad-based, with uneven density, multiple calcifications and bone remodeling, and some exhibited multiple cystic components. The MRI results showed that the tumor showed low signal on T1 weighted imaging and high or slightly high signal on T2 weighted imaging. All patients were diagnosed through histopathological examination and immunohistochemistry, including 7 cases of Ki-67 and SMA (+), 5 cases of S-100 and Vimentin (+), and all EMA and GFAP were negative. All patients underwent endoscopic resection surgery through the nasal approach, with 3 cases using navigation technology. Five cases of tumors were completely removed, and two cases of tumors were mostly removed. No nasal packing was performed after surgery, and no postoperative nasal, ocular, or intracranial complication occurred in all patients. Follow up assessments conducted 6 to 84 months post-surgery revealed no instances of tumor recurrence in any of the patients.Conclusions:The clinical symptoms of children with NCHM mainly depend on the size and location of the tumor. Nasal endoscopic surgery is the main treatment method. In cases where critical structures like the skull base or orbit are implicated, staged surgical interventions may be warranted. Long-term follow-up is strongly advised to monitor for any potential recurrence or complications.

Objective:Under the background of "new medical science", to construct a whole-process education path with "education as the driving force - moral cultivation as the core", and to provide a decision-making basis for the reform, innovation, and development of humanistic quality education in medical colleges.Methods:Five-year clinical medical students (freshman to fifth graders) from Qiqihar Medical University were selected as the research objects. The evaluation model and questionnaire of humanistic quality of clinical medical students were constructed by literature analysis. The Questionnaire Star platform was used to investigate and collect data by random sampling of clinical medical undergraduates, and the data results were analyzed by SPSS 26.0 to explore the path of building the whole-process education.Results:The empirical research on the cultivation of humanistic quality of medical students showed that the average humanistic attitude score of medical students was (3.47±0.75) points. From the perspective of gender, the scores of humanistic cognition, attitude, and behavior of male students were 2.81, 3.68, and 3.22 points, respectively, which were all significantly higher than those of female students (2.52, 3.22, and 2.95 points, respectively) ( P<0.05). The data from freshmen to the fifth graders showed that humanistic cognition, attitude, and behavior scores all presented an increasing trend with the grade. Using the "Knowledge, Attitude/Belief, Practice" model, it was found that the cognitive rate of humanistic quality of medical students was relatively ideal, and the awareness rate of medical students in different grades was different. The cross analysis showed that the effect of ideological morality and political literacy education on medical students in medical colleges had a significant cross-relationship with multiple choice questions. Conclusion:The humanistic quality of clinical medical students needs to be improved, and the cultivation of medical humanistic quality should run through the whole process from the first year to the fifth year, so as to improve the comprehensive training of professional ability and promote the all-round development of medical students.

Objective To investigate the association between Helicobacter pylori (HP) infection and newly named "metabolic associated fatty liver disease (MAFLD)" and the value of HP infection combined with traditional risk factors in predicting MAFLD. Methods A retrospective analysis was performed for the clinical data of 350 patients who were admitted to Affiliated Hospital of Inner Mongolia University for the Nationalities and underwent carbon-13 urea breath test from January 2017 to December 2021, and according to whether fatty liver disease was diagnosed by abdominal ultrasound, they were divided into MAFLD group with 190 patients and non-fatty liver disease group with 160 patients. The independent-samples t test was used for comparison of normally distributed continuous data between groups, and the Mann-Whitney U rank sum test was used for comparison of non-normally distributed continuous data between groups; the chi-square test was used for comparison of categorical data between groups. The binary Logistic regression analysis was used to investigate the risk factors for MAFLD. Results Compared with the non-fatty liver disease group, the MAFLD group had significantly higher body mass index ( t =8.73, P < 0.05), systolic blood pressure ( Z =-3.67, P < 0.05), diastolic blood pressure ( Z =-3.62, P < 0.05), triglyceride ( Z =-8.93, P < 0.05), fasting blood glucose ( Z =-9.13, P < 0.05), aspartate aminotransferase ( Z =-2.03, P < 0.05), gamma-glutamyl transpeptidase ( Z =-8.56, P < 0.05), proportion of male patients ( χ 2 =12.09, P < 0.05), and proportion of patients with hypertension ( χ 2 =37.91, P < 0.05), diabetes ( χ 2 =73.62, P < 0.05), overweight/obesity ( χ 2 =42.82, P < 0.05), hypertriglyceridemia ( χ 2 =59.12, P < 0.05), or HP infection ( χ 2 =4.53, P < 0.05), as well as a significantly lower level of high-density lipoprotein cholesterol ( Z =-6.81, P < 0.05). The Logistic regression analysis showed that fasting blood glucose (odds ratio [ OR ]=1.255, 95% confidence interval [ CI ]: 1.091-1.445, P < 0.05), HP infection ( OR =1.899, 95% CI : 1.048-3.440, P < 0.05), hypertension ( OR =2.589, 95% CI : 1.468-4.567, P < 0.05), diabetes ( OR =2.202, 95% CI : 1.123-4.315, P < 0.05), overweight/obesity ( OR =4.571, 95% CI : 2.308-9.052, P < 0.05), and hypertriglyceridemia ( OR =4.187, 95% CI : 2.411-7.271, P < 0.05) were risk factors for MAFLD, and it also showed that HP infection combined with traditional risk factors significantly increased the risk of MAFLD in subjects with diabetes, overweight/obesity, hypertriglyceridemia, and hypertension ( OR =12.267, 14.005, 7.911, and 7.364, all P < 0.05). Conclusion HP infection is associated with an increased risk of MAFLD, and its combination with traditional risk factors may further increase the risk of MAFLD.