This study aimed at conducting retrospective analysis of the clinical symptoms and genetic mutations in 20 children with Gitelman syndrome treated at the Affiliated Children′s Hospital of Nanjing Medical University from August 2015 to November 2022 and also explored the molecular mechanism of the pathogenic high-frequency mutation D486N in the Chinese population.

Objective:To summarize the clinical characteristics of patients with coronavirus disease 2019 (COVID-19) infected with Delta variant, so as to provide further references for clinical diagnosis and treatment.Methods:A real-world study was conducted to analyze the characteristics of 166 COVID-19 patients infected with Delta variant at Guangzhou Eighth People’s Hospital, Guangzhou Medical University.Results:The study enrolled 5 asymptomatic cases, 123 non-severe cases (mild and moderate type), and 38 severe cases (severe and critical type). Among these patients, 69 (41.6%) were male and 97 (58.4%) were female, with a mean age of 47.0±23.5 years. Thirty-nine cases (23.5%) had received 1 or 2 doses of inactivated vaccine. The incidence of severe COVID-19 cases was 7.7% in 2-doses vaccinated patients, which was lower than that of 11.5% in 1-dose and 26.8% in unvaccinated patients. The proportion of severe cases in 2 dose-vaccinated patients was 7.7%, which was lower than that of 11.5% in 1-dose vaccinated patients and 26.8% in unvaccinated patients, but the difference was not significant ( P>0.05). The most common clinical symptom was fever (134 cases, 83.2%), and 39.1% of cases presented with high-grade fever (≥39 °C); other symptoms were cough, sputum, fatigue, and xerostomia. The proportion of fever in severe cases was significantly higher than that of non-severe cases (97.4% vs. 76.4%, P<0.01). Similarly, the proportion of severe cases with high peak temperature (≥39 ℃) () was also higher than that of non-severe cases (65.8% vs. 30.9%, P<0.01). The median minimal Cycle threshold (Ct) values of viral nucleic acid N gene and ORFlab gene were 20.3 and 21.5, respectively, and the minimum Ct values were 11.9 and 13.5, respectively. Within 48 h of admission, 9.0% of cases presented with decreased white blood cell counts, and 52.4% with decreased lymphocyte counts. The proportions of increased C-reactive protein, serum amyloid A, interleukin 6, and interleukin 10 were 32.5%, 57.4%, 65.3%, and 35.7%, respectively. The proportions of elevated C-reactive protein, serum amyloid A and interleukin-6 in severe cases were significantly higher than those in non-severe cases ( P<0.01). Logistic regression analysis showed that older age and higher peak temperature were associated with a higher likelihood of severe cases ( OR>3, 95% CI: 2-7, P<0.01). In terms of treatment, traditional Chinese medicine (TCM) was used in 97.6% of non-severe cases and 100% in severe cases. Other treatments included respiratory and nutritional support, immunotherapy (such as neutralizing antibodies and plasma of recovered patients). The median times from admission to progression to severe cases, of fever clearance, and of nucleic acid conversion were 5 days, 6 days and 19 days, respectively. No deaths were reported within 28 days. Conclusions:The symptoms of Delta variant infection in Guangzhou are characterized by a high proportion of fever, high peak temperature, long duration of fever, high viral load, a long time to nucleic acid conversion, and a high incidence of severe cases. The severe cases exhibit a higher percentage of elderly patients, a longer duration of fever and have a higher fever rate and a higher hyperthermia rate than non-severe cases. Age and hyperthermia are independent risk factors for progression to severe disease. The combination of TCM and Western medicine can control the progression of the disease effectively.

Objective:To explore the non-target metabonomics of serum in worker's pneumoconiosis (CWP) patients with latent tuberculosis and the biomarkers of latent tuberculosis infection of pneumoconiosis.Methods:In December 2018, 39 CWP inpatients from a hospital in Beijing were taken as subjects. The subjects were screened for latent tuberculosis using the in vitro release test of mycobacterium tuberculosis-interferon (IGRAs) test. According to the screening results, 21 positive patients with latent tuberculosis infection were selected as the latent tuberculosis group of pneumoconiosis. While 18 negative patients with CWP alone were selected as the pneumoconiosis group. Polarity components of metabolites were analyzed by UPLC-QTOF/MS. The data was processed with Progenesis QI software for multidimensional statistical analysis. Identification of structure of differential metabolites were matched through accurate mass and secondary mass spectrum. Searching the Human Metabolome Database (HMDB) , differential metabolites were imported into MetaboAnalyst 4.0 to analyze the metabolic pathways.Results:All 42 differential metabolites were screened out. Excepted for exogenous metabolites, 14 endogenous differential metabolites were identified. Compared with the pneumoconiosis group, 6 metabolites including PC [18∶4 (6Z, 9Z, 12Z, 15Z) /P-18∶1 (11Z) ], 3-Oxododecanoyl-CoA in the latent tuberculosis group were up-regulated, while 8 metabolites including the Stearoyl-CoA, (2S) -Pristanoyl-CoA were down-regulated. These results might be related to lipid, fatty acid and arachidonic acid metabolism pathways.Conclusion:There are significant differences in serum metabonomics between the patients with latent tuberculosis of pneumoconiosis and the patients with ordinary pneumoconiosis, which provide a reference for the study of biomarkers for the diagnosis of latent tuberculosis infection of pneumoconiosis.

Objective:To explore the non-target metabonomics of serum in worker's pneumoconiosis (CWP) patients with latent tuberculosis and the biomarkers of latent tuberculosis infection of pneumoconiosis.Methods:In December 2018, 39 CWP inpatients from a hospital in Beijing were taken as subjects. The subjects were screened for latent tuberculosis using the in vitro release test of mycobacterium tuberculosis-interferon (IGRAs) test. According to the screening results, 21 positive patients with latent tuberculosis infection were selected as the latent tuberculosis group of pneumoconiosis. While 18 negative patients with CWP alone were selected as the pneumoconiosis group. Polarity components of metabolites were analyzed by UPLC-QTOF/MS. The data was processed with Progenesis QI software for multidimensional statistical analysis. Identification of structure of differential metabolites were matched through accurate mass and secondary mass spectrum. Searching the Human Metabolome Database (HMDB) , differential metabolites were imported into MetaboAnalyst 4.0 to analyze the metabolic pathways.Results:All 42 differential metabolites were screened out. Excepted for exogenous metabolites, 14 endogenous differential metabolites were identified. Compared with the pneumoconiosis group, 6 metabolites including PC [18∶4 (6Z, 9Z, 12Z, 15Z) /P-18∶1 (11Z) ], 3-Oxododecanoyl-CoA in the latent tuberculosis group were up-regulated, while 8 metabolites including the Stearoyl-CoA, (2S) -Pristanoyl-CoA were down-regulated. These results might be related to lipid, fatty acid and arachidonic acid metabolism pathways.Conclusion:There are significant differences in serum metabonomics between the patients with latent tuberculosis of pneumoconiosis and the patients with ordinary pneumoconiosis, which provide a reference for the study of biomarkers for the diagnosis of latent tuberculosis infection of pneumoconiosis.

OBJECTIVE： To provide reference for promoting large-scale， standardized and high-quality planting of Chinese medicinal materials. METHODS： Through the communication by phone with the agriculture bureau of each district and county， the contact with the relevant township government and the field visit investigation during Jun. 2013-Dec. 2018 by Lanzhou institute for food and drug control， variety， area， yield and output value， cultivation techniques and processing methods of Chinese medicinal materials in the planting area of Lanzhou were investigated and statistically analyzed. The advantages and problems were analyzed， and reasonable suggestions for planting Chinese medicinal materials were put forward. RESULTS & CONCLUSIONS： In 2018， artificial planting of Chinese medicinal materials in lanzhou has a certain scale， with 21 artificial planting varieties， a total planting area of about 510 000 mu， an annual output of 170 000 tons， an annual production value of over 1.7 billion yuan. Cultivation techniques mainly include seedling transplanting， mulching or direct seeding， while drying is the main processing method. Artificial planting of Chinese medicinal materials in Lanzhou has a certain scale and prominent characteristic varieties； authenticity is guaranteed， and the combination of Chinese medicinal materials planting and tourism drives economic development. However， there are still some problems， such as a certain distance from the development of industrialization， variety degradation， backward basic research， serious natural disasters. It is suggested to strengthen its propaganda and expand its advantages， at the same time， enhance government support， develop and construct planting bases of Chinese medicinal materials， strengthen the awareness of good agricultural practice （GAP）， strengthen scientific research strengeh， explore breeding techniques of fine varieties of Chinese medicinal materials， develop insurance of Chinese medicinal materials， and guarantee the development of planting industry so as to promote large-scale， standardized and high-quality planting of Chinese medicinal materials.

Objective: To explore the role of D-dimer level in patients with acute exacerbation of chronic obstructive disease (AECOPD) in predicting the re-admission of patients. Methods: One hundred and twenty chronic obstructive pulmonary disease (COPD) patients in the Shanghai General Hospital of Shanghai Jiao Tong University form January 2016 to December 2018 were divided into AECOPD group (62 cases) and stable COPD group (58 cases).The level of serum D-dimer was analyzed and Pearson correlation analysis was performed with the patient′s blood gas analysis and COPD assessment test (CAT) score. The area under the receiver operating characteristic (ROC) curve was used to evaluate the predictive value of serum D-dimer level for readmission. Results: Serum D-dimer level was significantly higher in AECOPD group than that in stable group: (1.24 ± 0.56) mg/L vs. (0.39 ± 0.22) mg/L, and there was statistical difference (P<0.01). Serum D-dimer level was negatively correlated with PaO₂ in COPD patients (r = 0.712, P = 0.000), but positively correlated with PaCO₂ (r = 0.683, P = 0.000) and CAT score (r = 0.652, P = 0.000). The area under the ROC curve of D-dimer level to re-admission of COPD patients within one year was 0.848. The cutoff value was 1.015 mg/L. Conclusions The level of D-dimer in COPD patients is of great value in predicting the re-admission of patients, which can be used as an independent indicator of disease progression.

Objective To establish a quality control method for bomeol and artificial musk in Xinfufang-Zhenzhusan and Xinfufang-Zhenzhugao.Methods We used petroleum ether-toluene-ethyl acetate (9:3:2)as developer for TLC to identify isoborneol and borneol and petroleum ether-dichloromethane (2:3) as developer for TLC to identificate musk ketone.Agilent 7890 B gas chromatograph,FDI detector;Column:Thermo-TG-WaxMS GC (0.25 mm × 30 m,0.25 mm) was employed;the carrier gas was high purity nitrogen and flow rate for 1 mg/ml,the injection port temperature is 200 C and detector temperature is 250 ℃;the split ratio is 10:1 and injection volume was 1 μl,using temperature programmed.Results The isoborneol,borneol and musk ketone in the range of 0.001-10 mg/ml showed good linearity.The recovery of the method is in the range of 95 ％ to 105 ％.The TLC for isobomeol,bomeol,musk ketone can be identified easily.Conclusions The method was simple and reasonable,which can be used for the quality control of borneol and artificial musk in the Xinfufang-Zhenzhusan and Xinfufang-Zhenzhugao.

Objective To analyze the clinical diagnosis and treatment data of 20 children with hypophosphatemic rickets (HR) in order to improve the clinical diagnosis and treatment of HR.Methods The retrospective analysis of clinical data of 20 cases with HR who were hospitalized at Children's Hospital of Nanjing Medical University from May,2010 to April,2016 was performed to summarize the clinical characteristics.All patients were analyzed for the phosphate regulating gene with homologies to endopeptidase on the X chromosome(PHEX) gene by direct sequencing.If no mutations were detected,multiplex ligation-dependent probe amplification analysis was performed.Results All of the 20 cases with HR showed different degrees of growth retardation and typical X-ray rickets.After treatment,the clinical features were improved.Height standard deviation score (HSDS) was improved significantly with longer treatment time,and the difference was statistically significant(P =0.027).There was a correlation between the blood phosphorus fluctuation and secondary hyperparathyroidism(P ＜ 0.05).Nineteen cases had PHEX gene mutations.Truncating mutations was the most frequent mutation type,and 4 new mutations were found.Conclusions Clinical characteristics,laboratory test results and X-ray examination are important clinical index for the diagnosis of HR,and PHEX gene test can be used as an important auxiliary diagnostic tool.Early diagnosis and treatment can significantly improve the clinical manifestations of the patients.

[Objective] To describe a case of a rare,novel mutation causing recurrent chorioamniotic membrane separation in a Chinese family with combined next-generation sequencing (NGS) and Sanger sequencing.[Methods] For the affected fetus,potential mutation were detected by the conbinedcombined next-generation sequencing (NGS) and Sanger sequencing.And the prenatal diagnosis were identified by Sanger sequencing.[Results] A frameshifting mutation c.1389_1390delAG (inherited from mother),and a missense mutationc.1006 G ＞ C (inherited from mother) have been identified in the affected fetus (the second pregnancy).The prenatal diagnosis of the third fetus turns out to be a carrier,the mutation was inherited from father.[Conclusions] We describe a novel mutation in gene ZMPSTE24,which was considered with mandibuloacral dysplasia with type B,and that may be the cousecoursecausing of recurrent chorioamniotic membrane separation.This rare mutation constitutes an additional heterogeneous defect causing chorioamniotic membrane separation.And the conbinedcombined next-generation sequencing (NGS) and Sanger sequencing allows high resolution characterization of novel mutions that are not readily detected by present methods.

Objective To investigate the global level of histone 4 lysine 20 monomethylation (H4K20me1) and expression of base excision repair related mRNA in coal-burning-borne endemic arsenism patients and to analyze its relationship with DNA damage,in order to provide a scientific basis in deepening the interpretation of the role of arsenic in inhibiting repair of DNA damage.Methods In 2014,47 hair samples,blood samples and skin tissue samples of the cases in Xingren County Guizhou Province were collected from the voluntary surgical treatment patients with endemic arsenism (15 general pathological change cases,14 precancerous cases and 18 cancerous cases) and 12 controls.The hair arsenic content was tested via the inductively coupled plasma-mass spectrometry method.The expression of histone H4K20me1 in skin tissues was detected via the immunohistochemistry method;quantitative real-time polymerase chain reaction was used to detect the mRNA levels of poly (ADP-ribose) polymerase (PARP1),N-methylation of purine-DNA-glycosylation (MPG) and X-ray repair cross complementary gene 1 (XRCC1);and DNA damage in peripheral blood was detected by single cell gel electrophoresis test,the level of H4K20me1 in peripheral blood cells was detected by using a sandwich enzyme-linked immunosorbent assay.Results Compared with the control group [median (25 ～ 75 percentile):0.15 (0.07-0.23) μg/L],the hair arsenic content in the case group [0.34 (0.17-0.51) μg/L] was significantly increased (Z =6.037,P ＜ 0.05).Compared with the control group (0.32 ± 0.13,0.17 ± 0.12),the modification level of H4K20me1 in peripheral blood with cancerous group (0.62 ± 0.11) was significantly increased,the modification levels of H4K20me1 (0.54 ± 0.20,0.83 ± 0.10) in skin tissues were increased in the precancerous group and cancerous group (P ＜ 0.05).Compared with the control group [0.95 (0.50-1.49),1.12 (0.98-1.48),0.96 (0.67-1.17)],the mRNA expression levels of PARP1 and MPG in cancerous group [0.37 (0.30-0.44),0.38 (0.15-0.48)] were significantly decreased;the mRNA expression levels of XRCC1 [0.48 (0.38-0.89),0.32 (0.20-0.55)] were significantly decreased in the precancerous group and cancerous group (P ＜ 0.05).Compared with the control group (1.19 ± 0.55,1.27 ± 0.51),Tail DNA％ and Tail moment were significantly increased in the general pathological change group (6.49 ± 0.98,6.60 ± 1.11),the precancerous lesion group (11.22 ± 1.40,10.07 ± 1.11),and the cancerous group (20.38 ± 1.72,27.01 ± 1.78,P ＜ 0.05).There was a positive correlation between the degree of skin lesion and modification level of H4K20me1 in peripheral blood and skin tissues and DNA damage levels (TailDNA％,OTM,r =0.885,0.855,0.806,0.883,P ＜ 0.05).There was a positive correlation between modification level of H4K20me1 in peripheral blood and level of DNA damage (TailDNA％,OTM),the level of H4K20me1 protein expression in skin (r =0.535,0.804,0.754,P ＜ 0.05),and a negative correlation with mRNA expression of MPG,XRCC1 and PARP1 (r =-0.563,-0.514,-0.550,P ＜ 0.05).There was a positive correlation between the modification level of H4K20me1 in skin and DNA damage levels (TailDNA％,OTM,r =0.602,0.875,P ＜ 0.05),and a negative correlation with mRNA expression of MPG,XRCC1 and PARP1 (r =-0.492,-0.502,-0.552,P ＜ 0.05).Conclusion The arsenic pollution of coal burning may affect the level of H4K20me1 modification,inhibit mRNA transcriptional expression of PARP1,MPG and XRCC1 genes related with base excision repair,which may lead to increased DNA damage and participate in the occurrence and development of arsenic poisoning skin lesions.