Familial glucocorticoid deficiency type 4(FGD4) is a rare autosomal recessive disorder caused by mutations in the nicotinamide nucleotide transhydrogenase(NNT) gene. The article presented clinical data, laboratory results, and genetic mutation findings of a child with FGD4. Additionally, a retrospective analysis of the clinical data of FGD4 patients reported domestically and internationally was conducted, summarizing the types of gene mutations and clinical characteristics. This case identifies novel mutation sites in the NNT gene, providing a basis for the early diagnosis and treatment of FGD4 patients.

OBJECTIVE To evaluate the ameliorative effect of Juanbi Tongluo Oral Liquid on sciatic neuronal apoptosis in Type 2 diabetic model mice.METHODS The Type 2 diabetes mouse model was established by feeding with high-fat and high-sugar diet combined with intraperitoneal injection of streptozotocin(STZ).The mice were treated with metformin(200 mg·kg-1·d-1),low dose(3.9 g·kg-1·d-1)and high dose(7.8 g·kg-1·d-1)Juanbi Tongluo Oral Liquid for 35 days.The latency of response to thermal stimu-lation was detected by hot plate,and the values of blood glucose insulin and glycosylated hemoglobin were determined.Biochemical kits were used to detect the expression of serum total cholesterol(T-CHO),triglyceride(TG),high density lipoprotein cholesterol(HDL-C),low density lipoprotein cholesterol(LDL-C),superoxide dismutase(SOD),catalase(CAT),glutathione peroxidase(GSH-Px)and oxidation product malondialdehyde(MDA).The expression of tumor cytokine α(TNF-α),interleukin(IL)-1β,IL-6 and IL-10 in serum of mice were detected by ELISA method;the injury of sciatic nerve of model mice was detected by HE staining;the apoptosis of sciatic nerve was detected by TUNEL method;and the expression of neurofilament protein NF-L,apoptosis(cleaved Caspase-3,Caspase-3)and oxidative stress(Nrf2,HO-1)signal pathway proteins in sciatic nerve of model mice were detected by Western blot method.RESULTS High-dose Juanbi Tongluo Oral Liquid shortened the latent period of heat pain response in model mice(P<0.01);downregulated fasting blood glucose and glycated hemoglobin(P<0.01),and upregulated fasting plasma insulin in model mice(P<0.01);downregulated serum T-CHO,TG,and LDL-C levels(P<0.01),upregulated HDL-C levels(P<0.01);downregulated serum pro-inflammatory factors TNF-α,IL-1β and IL-6 levels(P<0.05),upregulated the anti-inflammatory cyto-kine IL-10 level(P<0.01);inhibited sciatic nerve structural damage and apoptosis(P<0.05);downregulated the ratio of cleaved Caspase-3 to Caspase-3 in the apoptosis pathway(P<0.01);upregulated the expression of neurofilament proteins NF-L and NF-H in sciatic nerve tissue(P<0.05,P<0.01);and upregulated the expression of antioxidant stress proteins Nrf2 and HO-1(P<0.01).CONCLUSION Juanbi Tongluo Oral Liquid can improve sciatic neuronal apoptosis of Type 2 diabetic mice,which may be related to its effect on improving oxidative stress and inflammatory stress.

Objective: To investigate vitamin D levels among primary and middle school students in Xicheng District, Beijing Municipality, and to examine the association of vitamin D levels with hemoglobin (Hb) and serum ferritin (SF) levels, so as to provide insights into the prevention of anemia among primary and middle school students. Methods: The first, third and fifth grade primary school students and the first grade junior high school students were sampled from Xicheng District in 2019, using the multistage stratified cluster sampling method, and students' gender, age, height, weight and Hb levels were collected. The 25-hydroxyvitamin D [25-( OH )D] was measured using electrochemiluminescence assay, and SF was detected using immunoturbidimetry. The vitamin D deficiency was determined according to the American College of Endocrinology guidelines. The associations of 25-( OH) D levels with Hb and SF levels were examined using Pearson correlation analysis and Spearman rank correlation analysis. Results: Totally 403 primary and junior high school students were investigated, including 196 boys ( 48.64% ) and 207 girls ( 51.36% ). There were 179, 114 and 110 students at ages of 6 to 8 years ( 44.41% ), 9 to 11 years ( 28.29% ) and 12 to 13 years ( 27.30% ), respectively. The mean 25-( OH )D level was ( 14.80±5.96 ) ng/mL among the study students, and there were 90 students ( 22.33% ) with severe vitamin D deficiency, 243 students ( 60.30% ) with vitamin D deficiency, 63 students ( 15.63% ) with vitamin D inadequacy and 7 students ( 1.74% ) with vitamin D sufficiency. The mean Hb level was ( 136.28±8.33 ) g/L and the median SF level (interquartile range) was 56.80 (14.36) ng/mL among the study students, respectively. The 25-( OH )D level positively correlated with Hb ( r=0.364, P<0.001 ) and SF levels ( rs=0.374, P<0.001 ), and after adjustment for age and body mass index, the 25-( OH )D still correlated positively with Hb ( r=0.157, P=0.048 ) and SF levels ( rs=0.174, P=0.022 ) . Conclusions Vitamin D deficiency is prevalent among primary and middle school students in Xicheng District, and the 25-(OH)-D levels correlate positively with Hb and SF levels. 25-( OH )-D deficiency may contribute to the development of anemia.
vitamin D ; hemoglobin ; serum ferritin ; primary and middle school student

OBJECTIVE: To explore the correlation between the genotypes and metabolic markers and microstructure of bones in children with Gitelman syndrome (GS). METHODS: For 15 children with GS and 10 healthy individuals, baseline data and bone metabolic markers including parathyroid hormone, alkaline phosphatase, osteocalcin, N-terminal propeptide of type I procollagen, beta isomer of the C-terminal telopeptide of type I collagen and 25-hydroxyvitamin D, high-resolution peripheral quantitative computed tomography indicators (volumetric bone mineral density, bone microstructure indicators) were collected. Genetic testing was carried out to determine their genotypes. RESULTS: The volumetric bone mineral density, bone geometry and bone microstructure parameters of the GS group were better than those of the healthy controls (P<0.05). Variants of the SLC12A3 gene were identified in 9 of the 15 patients but none of the 10 healthy controls. CONCLUSION The phenotype of GS children is influenced by the interaction of genetic variants, though the phenotype associated with high frequency mutations showed no specificity. There is also a correlation between their genotype and the bone microstructure.
Biomarkers ; Bone and Bones ; Child ; Collagen Type I/genetics* ; Genotype ; Gitelman Syndrome ; Humans ; Osteocalcin/genetics* ; Peptide Fragments ; Solute Carrier Family 12, Member 3

Major hepatectomy (MH) is a common treatment for benign and malignant liver diseases. Controlled low central venous pressure (CLCVP) is an important measure to reduce the intraoperative blood loss and transfusion requirement during MH. In this paper, the application standard of CLCVP at MH is discussed, and the specific measures to achieve CLCVP including fluid restriction, drug application, body gesture adjustment, reduction of tidal volume, suspension of respiratory ventilation, and infrahepatic inferior vena cava clamping (complete and partial) are systematically summarized.

Objective:To explore the needs for discharge plans in patients with ischemic stroke and their family members, and provide a reference for formulating a scientific and standardized discharge plan.Methods:Totally 15 patients with hemiplegia after ischemic stroke admitted in our hospital between January and March 2019 and 15 family members received semi-structured in-depth interviews using phenomenological research methods in qualitative studies. Colaizzi analysis was used to encode, analyze, categorize and refine the data.Results:The needs for discharge plans in patients with hemiplegia after ischemic stroke were summarized into 5 themes, namely, disease knowledge, rehabilitation exercise, psychological support, financial support, and referral services; the needs for discharge plans in family members were summarized into 3 themes, namely, care knowledge/skills guidance, rehabilitation equipment guidance and respite care needs.Conclusions:Patients with hemiplegia after ischemic stroke and their family members have high needs for discharge plans. A personalized multidisciplinary collaborative discharge plan should be provided, and the role of communities in the follow-up rehabilitation treatment should be given full play to.

Objective To explore and analyze the effect and value of combined detection of urine neutrophil gelatin-associated apolipoprotein (NGAL) and kidney injury molecule 1 (KIM-1) in the early diagnosis of contrast-induced nephropathy.Methods The clinical data of 116 patients with coronary heart disease who received coronary intervention treatment in our hospital in 2017 were collected with forward-looking research methods.The patients were divided into the non-contrast-induced nephropathy group (control group, n=90) and the contrast-induced nephropathy group (observation group, n=26) according to the occurrence of contrast-induced nephropathy.The levels of serum creatinine, serum urea nitrogen, urine NGAL and KIM-1 were compared at different time points between the two groups.Results From 2 days after surgery, the serum creatinine levels were increased significantly (P＜0.05).The serum creatinine levels at 2 days after surgery (102.43±20.31) μmol/L and 3 days after surgery (107.22±25.13) μmol/L in the observation group were significantly higher than those in the control group[ (92.89±16.74) μmol/L, (91.97±15.38) μmol/L];The serum urea nitrogen levels in the observation group were increased significantly from 12 hafter surgery (P＜0.05);the serum urea nitrogen levels of the observation group at 12 h, 1 d, 2 dand 3 dafter surgery were significantly higher than those of the control group (P＜0.05);The urine NGAL levels at 4 and 12 hour and 1 and 2 days after surgery in the observation group were significantly higher than those in the control group;The KIM-1 levels at 1 day after surgery (5.14±0.96) μg/L and 2 days after surgery (5.58±1.33) μg/L in the observation group were significantly higher than those in the control group [ (3.58±1.23) μg/L, (3.64±1.15) μg/L], and the differences were statistically significant (P＜0.05).Pearson correlation analysis showed that there was a positive correlation between urinary NGAL at 4 hours postoperatively and serum creatinine at2 days postoperatively (r=0.784, P=0.000), and positively correlated with serum urea nitrogen level at 1 day postoperatively (r=0.811, P=0.000).The KIM-1 level at 1 day postoperatively was positively correlated with the serum creatinine level at 2 days postoperatively (r=0.596, P=0.000), and positively correlated with the serum urea nitrogen level at 2 days postoperatively (r=0.644, P=0.000).ROC curve analysis showed that the area under curve (AUC) of urine NGAL was 0.917[95％confidence interval (CI) :0.884-0.951], the sensitivity was 86.74％, and the specificity was 93.92％;AUC of KIM-1 was 0.842 (95％CI:0.755-0.901), the sensitivity was 81.16％, and the specificity was 83.47％.Conclusion Urine NGAL and KIM-1 are biochemical markers that can early react to the impairment of renal function, and have positive value in the early diagnosis of contrast-induced nephropathy.

Objective To investigate the effect of flipped classroom based on WeChat and mi-crolecture in medical chemistry experiment course in the context of "internet". Methods The classes were randomly divided into 2 groups, experimental group (flipped classroom teaching, n=97) and the control group (traditional teaching, n=98). Comparison of the chemistry experiment test results were performed with the use of t test between the two teaching groups at the end of the semester to evaluate the experimental teaching method. All statistical processing and analyses were performed with SPSS software (version 12.0). Results The chemistry experiment test score of the experimental group was higher than that of the control group [(77.84±8.22) vs. (73.43±10.14), t=3.341, P=0.008), and the difference was statistically significant. The results of the questionnaire showed that the students in the experimental group generally consider that flipped classroom teaching is better than the traditional teaching in terms of the cultivation of comprehen-sive quality and the teaching effect. Conclusion In the context of "internet", flipped classroom teaching with WeChat microlecture can better mobilize the enthusiasm of students to learn and participate in medical chemistry experiment course, which has been welcomed by students and further suggest good application prospects.

Objective To assess the therapeutic effects of Yiqifumai combined with Alprostadil injection on patients with chronic cardiac insufficiency and angina pectoris.Methods One hundred and fifty patients with heart dysfunction (NYHA [Ⅱ-Ⅲ) and angina pectoris were randomly divided into three groups,the control group (n=50),the Yiqifumai group (n=50),and the Yiqifumai plus Alprostadil group (n=50).Parameters including clinical effectiveness,electrocardiograph (ECG),heart function and hemodynamics were evaluated.Results The overall clinical effectiveness rate in the Yiqifumai plus Alprostadil group (94 ％) was higher than those in the Yiqifumai group (78 ％) and the control group (54％) (P＜0.05 for both).The overall effectiveness rate in ECG changes was higher in the Yiqifumai plus Alprostadil group (84％) than in the Yiqifunai group (58％) and the control group (42％) (P＜0.05 for both).While no significant difference in the left ventricular ejection fraction (LVEF) was found among the three groups before treatment,evident improvement in LVEF was observed in the Yiqifunai group and the Yiqifumai plus Alprostadil group 14 days after treatment,compared with pre-treatment data [(49±9)％ vs.(40±10)％ and (59±9)％ vs.(41±10) ％,respectively; P＜0.05 for both].However,there was no significant difference between the two groups (P＞0.05).There was no improvement in LVEF in the control group after treatment (P ＞0.05).No difference in hemodynamic parameters,including cardiac output,cardiac index and left ventricular stroke work index,was found among the three groups before treatment (P＞0.05),but they showed improvement in the Yiqifunai group and the Yiqifumai plus Alprostadil group after treatment (P＜0.05 for both),with greater improvement in the latter group.The improvement was not significant in the control group before and after treatment (P＞0.05).Conclusions Yiqifumai combined with Alprostadil in the treatment of cardiac insufficiency with unstable angina pectoris has advantages in improving clinical symptoms,heart function and hemodynamics.

Objective To investigate the optimal timing of surgical treatment for multi-drug resistance patients,discuss the clinical effect of surgery with chemotherapy treatment for muhi-drug resistant tuberculosis,and obtain more evidence for further optimizing surgical treatment strategy for such patients.Methods 100 cases who were multi-drug resistant and who received treatment in our hospital from July 2003 to June 2010 were included in this retrospective study.Among them,50 (observation group) received pulmonary lobectomy followed by anti-tuberculosis chemotherapy for 12 to 24 months,and the others (control group) only received anti-tuberculosis regimens although they had indications for pulmonary lobectomy.All patients in both groups were followed up for 12 to 24 months.Therapeutic effects and post-operational events were compared statistically in the observation group patients according to their duration of disease.Results Results At the end of follow-up,the cure rate,illness exacerbation rate and mortality were 36.0％ (18/50),16.0％ (8/50) and 26.0％ (13/50) respectively in the control group,whereas those in the observation group were 80.0％ (40/50),2.0％ (1/50) and 4.0％ (2/50) respectively.Resistanee to new anti-tuberculosis drugs appeared in 3 cases (6％) in the control group,while there was no new resistance in the observation group.The cure rate and complication rate were 96.30％ and 3.70％ respectively for patients whose duration of illness was less than 2 years,whereas those were 47.8％ and 43.5％ respectively for cases whose duration of illness was more than 2 years.Bronchopleural fistula,hemorrhage,pyothorax and pulmonary atelectasis were main postoperative complications,from which 11 cases recovered and 2 died,the death caused by choking of big haemoptysisand and multiple organs failure.Conclusion The therapeutic effects of surgical treatment plus anti-tuberculosis chemotherapy were better than chemotherapy alone.Pulmonary lobectomy could result in better response if done at the earlier stages of illness.Complications of operations were acceptable.