We retrospectively analyzed the clinical data of seven patients (four men and three women) with primary hyperoxaluria (PH) type 1 (PH1) in the Department of Nephrology of Zhongda Hospital, Southeast University from January 2018 to October 2023. The mean age at disease onset was 32.1 (range: 26-42) years. The mean age at diagnosis was 40.6 (range: 28-51) years. All patients initially had kidney stones, and three patients were found to have renal insufficiency at the time of disease onset. Among them, two patients underwent hemodialysis immediately. Symptoms at the first visit included bone pain ( n=7), joint pain or deformity ( n=5), fatigue ( n=5), hypotension ( n=3), and subcutaneous nodules ( n=2). Four patients had a family history of PH. All patients had varying degrees of anemia (60-114 g/L), significant hypoalbuminemia (16.5-32.1 g/L), and hypercoagulable state (D-dimer: 2 230-12 781 μg/L). Seven patients received maintenance hemodialysis; their mean age was 37.7 (range: 26-50) years. The mean duration from disease onset to hemodialysis was 5.6 (range: 0-20) years. Five patients repeatedly experienced dialysis access dysfunction. Three patients underwent kidney transplantation before a diagnosis was made, and all transplanted kidneys lost function due to oxalate deposition. The mean follow-up duration was 14.43 (range: 4-38) months. Unfortunately, one patient died. All seven patients underwent computed tomography of the abdomen. All patients suffered skeletal abnormalities, bilateral nephrolithiasis, and nephrocalcinosis. Six patients carried AGXT gene mutations, including four compound heterozygous mutations and two pure homozygous mutations.The mutation sites included: c.823-824dup.AG (p.S275Rfs*38)(exon 8), c.815-816ins.GA (p.S275Rfs*38)(exon 8), c.595G>A (p.G199S) (exon 5), c.32C>G (p.P11R) (exon 1), and c.638C>T (p.A213V)(exon 6). According to the American College of Medical Genetics and Genomics guidelines, two loci were identified as likely pathogenic variants, seven were identified as pathogenic variants, and one locus was identified as having uncertain significance. In addition, patients 1 and 4 underwent skin biopsy, patient 2 underwent renal transplant biopsy, and patient 3 underwent bone marrow biopsy. Interestingly, significant oxalate deposition was found in the tissues. Therefore, PH1 is a rare autosomal recessive inherited disease. This study not only enhanced the understanding of the clinical characteristics of PH1 patients but also had great significance in early diagnosis and treatment of the disease.

Patients with novel coronavirus infection still have many functional disorders during the recovery period. The timely intervention of rehabilitation treatment has important clinical significance in improving the patients’ functions and their ability of daily living. Based on the current evidence of evidence-based medicine and clinical practice, this paper summarizes the rehabilitation treatment and precautions of patients with simple novel coronavirus infection and different groups with previous dysfunction and novel coronavirus infection (such as neurological dysfunction, chronic pain, and bone and joint diseases) with a view to providing clinical reference for the rehabilitation treatment of patients with novel coronavirus infection during the recovery period.

OBJECTIVE To establish a quantitative analysis of multi-components by single marker （QAMS） method based on a variety of internal reference substances for the content determination of 6 components in Jinlian qingre granules， such as mangiferin， 2″-O-β-L-galactopyranosylorientin， orientin， veratric acid， vitexin， harpagoside. METHODS The determination was performed on Agilent Eclipse Plus C18 column with mobile phase consisted of acetonitrile-0.1% phosphoric acid solution （gradient elution） at the flow rate of 1 mL/min. The column temperature was 30 ℃， and the detection wavelength was set at 270 nm. Taking orientin， vitexin and 2″-O-β-L-galactopyranosylorientin as internal references， the relative correction factors （RCF） of the other 5 components to be determined and internal substances were determined by QAMS. The contents of 6 components in 21 batches of Jinlian qingre granules were calculated and then compared with the results of the external standard method. RESULTS The contents of mangiferin， 2″-O-β-L-galactopyranosylorientin， orientin， veratric acid， vitexin and harpagoside in 21 batches of samples were determined by QAMS in the range of 0.234-0.516， 1.804-2.270， 2.143-2.606， 0.190-0.223， 0.594-0.782， 0.080-0.152 mg/g； the contents of them determined by external standard method were 0.235-0.523， 1.798-2.265， 2.137-2.599， 0.190-0.224， 0.597-0.786， 0.077-0.151 mg/g， respectively. The percentage difference between the results measured by the two methods should not exceed 4.00%. CONCLUSIONS QAMS has been constructed for the simultaneous determination of 6 components in Jinlian qingre granules based on a variety of internal reference substances. The results obtained by this method are not significantly different from those obtained by the external standard method， and can be used for the quality control of Jinlian qingre granules.

Objective To compare the consistency and detection rate of early gastric cancer (EGC) of three different methods including anti-Helicobacter pylori (Hp) antibody combined with pepsinogen (PG) (ABC method),serum PG combined with gastrin-17 (G-17) (new ABC method) and the new scoring system.Methods Serological tests were performed in Zhejiang population,which divided the subjects into low risk,intermediate risk and high risk groups.High risk subjects were examined by endoscopic and pathological examination.SPSS19.0 were used to evaluate the consistency of three methods.According to the receiver operating characteristic (ROC) curve,the ratio of G-17 to PG (PGR) was calculated for the optimal diagnostic cut-off value of EGC.Results A total of 30 126 subjects were recruited.Based on the data of ABC method,the proportions of low risk,intermediate risk and high risk group were 15 368 (51.01％),13 246 (43.97％),and 1 512 (5.02％),respectively.These proportions by the new ABC method were 20 584 (68.32％),8 990 (29.84％),552 cases (1.83％),respectively.By new scoring system,these were 20 810 (69.08％),8 059 (26.75％),and 1 257 (4.17％),respectively.Among them,1 263 subjects underwent endoscopy and 22 cases (1.74％) were finally diagnosed as gastric cancer including 19 EGC (86.4％).There were 1 case (0.35％),14 cases (1.84％),and 7 cases (3.21％) with gastric cancer in low risk,intermediate risk,and high risk groups by ABC methods,respectively.Gastric cancer patients were 7 (1.68％),10 (1.38％),and 5 (4.10％) in three groups respectively by new ABC methods.Via new scoring system,gastric cancer were detected in 5 (0.66％),9 (2.22％),and 8 (7.84％) patients of three risk groups respectively.The consistency of three screening methods was poor.The detection rate of gastric cancer in high risk group was higher than that in the other two (P＜0.05).The area under the curve (AUC) for diagnosis of gastric cancer by G-17 and PGR was 0.588 and 0.729,respectively.According to the PGR cut-off value determined by the fitted model,the incidence of gastric cancer in the low,intermediate and high risk groups was 0.94％,1.97％,and 6.31％,respectively.When the cut-off value is PGR＜4.135,the sensitivity is 0.855 and the specificity is 0.545.Conclusion The new scoring system has a better predictive value in EGC screening.The detection rate of EGC in high risk group is higher than that in low and intermediate risk groups.

Objective To explore the indicators change of early renal injury in patients with chronic obstructive pulmonary disease (COPD) and its clinical significance.Methods Ninety cases of COPD including 45 cases with stable period of COPD,45 cases with acute exacerbation of COPD who received treatment in Baoshan Branch of Shanghai General Hospital from January 2014 to December 2014 were enrolled in this study.Meanwhile 45 cases of healthy subjects were collected as the control group.According to the extent of hypoxia,the COPD patients were divided into mild subgroups (60mmHg

Objective To investigate the effects of cardiopulmonary bypass (CPB) on the differentiation of T lymphocyte subsets and the expression of specific transcription regulator T-bet/GATA binding protein 3 (GATA3). Methods A prospective double-blind study was conducted. Patients with CPB pulmonary repair of ventricular septal defect (observation group) or off-pump ligation of ductus arteriosus (control group) with 20 cases each in the 150th Military Hospital from February 2015 to February 2016 were enrolled. The blood sampled was collected on the time of before operation, at the end of CPB or operation, 4 hours after operation, and 24 hours after operation. T lymphocytes were isolated, the helper T cell 1 (Th1) specific transcription factor T-bet mRNA, helper T cell 2 (Th2) specific transcription factor GATA3 mRNA expression and cytokine γ-interferon (IFN-γ) mRNA, interleukin-4 (IL-4) mRNA expression were measured by Northern Blot. Results Compared with before operation, expression levels of T-bet mRNA [integral gray values: (1.39±0.52)×105vs. (2.92±0.88)×105], IFN-γ mRNA [integral gray values: (3.68±0.65)×105vs. (6.10±0.93)×105] were decreased transiently at the end of CPB in the observation group (both P < 0.05), returned to preoperative levels at 24 hours after operation [integral gray values: (2.77±0.74)×105, (6.22±1.25)×105, respectively, both P > 0.05]; expression levels of GATA3 mRNA [integral gray values:(4.96±0.88)×105vs. (3.21±0.68)×105], IL-4 mRNA [integral gray values: (3.52±1.13)×105vs. (1.85±0.63)×105] were increased (both P < 0.05), recovered to the preoperative levels at 24 hours after operation [integral gray values: (3.11±0.51)×105, (1.93±0.84)×105, respectively, both P > 0.05]. There were no significant differences in the expressions of T-bet, GATA3, IFN-γ and IL-4 mRNA in the control group at each time points (all P >0.05). Conclusions CPB causes the imbalance of Th1, Tc1/Th2, Tc2 and pro-inflammatory and anti-inflammatory reactions specially, which participate the complication occurrence after CPB. The changing of T-bet/GATA3 may be the internal mechanism for these changes.

Objective To investigate the potential role of CXC chemokine ligand 16 (CXCL16)/CXC chemokine receptor 6 (CXCR6) pathway in the progression of diabetic nephropathy (DN). Methods 8?week old male db/db mice were randomly divided into DN group and DN inflamed group. 10% casein was subcutaneously injected to induce the DN mouse model with inflammation. In vitro, HK?2 cells were treated with high glucose (HG), and IL?1β+HG to investigate the effect of inflammatory stress on HK?2 cells. Further knockdown CXCL16 was mediated by RNA interference to determine the effects of CXCl16, then cells were divided into HG+IL?1βgroup, HG+IL?1β + siCXCL16 group and HG + IL?1β + vehicle group. Changes of renal function in mice were assessed by 24 h proteinuria and N?acetyl?β?D?glucosaminidase (NAG) during 8 weeks. The ultra?microstructure was checked by electron microscopy at 8th week. Lipid accumulation in kidneys and HK?2 were observed by Filipin staining and quantitative assay of intracellular free cholesterol. The protein expressions of CXCl16, CXCR6, a disintegrin and metalloproteinase?10 (ADAM10), fibronectin and α smooth muscle actin (α?SMA) in renal tissue were detected by immunohistochemistry and Western blotting. The mRNA and protein expressions of CXCl16, CXCR6, ADAM10, fibronectin andα?SMA in HK?2 cells were detected by real?time PCR and Western blotting, and protein expressions of CXCl16, CXCR6 and ADAM10 in HK?2 cells were also tested by cell immunofluorescence. Results Mice in DN inflamed group had higher 24 h proteinuria and NAG than those in DN group, and the differences between two groups shown statistical significance at 8th week (all P<0.05). Compared with DN mice, DN inflamed mice had more vacuoles within renal tubular cells, with mitochondrial swelling, deformation and decrease. Lipid accumulation and protein expressions of fibronectin and α?SMA were increased in DN inflamed group when compared with DN group (all P<0.05). Further, the expressions of CXCL16, CXCR6, ADAM10 were significantly increased in DN inflamed group (all P<0.05). In vitro, the mRNA and protein expressions of CXCL16, CXCR6, ADAM10, fibronectin and α?SMA, and lipid accumulation were increased in high glucose plus IL?1βgroup when compared with high glucose group (all P<0.05). However, after siRNA of CXCL16 transfection, the mRNA and protein expressions of CXCL16, CXCR6, ADAM10, fibronectin andα?SMA were down?regulated in HG+IL?1β+siCXCL16 group as compared with high glucose+IL?1βgroup (all P<0.05). Furthermore, lipid accumulation was decreased (P<0.05). Conclusion Inflammation accelerates tubulointerstitial injury in DN partly through the activation of CXCL16 pathway, which may facilitate the lipid accumulation in tubular epithelial cells.

Objective To observe the clinical efficacy of electroacupuncture at cervical Jiaji (EX-B2) points plus behavioral intervention in treating cervical spondylosis. Method The cervical spondylosis patients were randomized into two groups at a ratio of 3:1, 90 cases in the electroacupuncture group and 30 cases in the medication group. The patients who received electroacupuncture were also given cupping and behavioral intervention (raising head for 1 min every 20-30 min and correcting sleep habits). The clinical efficacy was evaluated according to the symptoms and body signs assessment scale. Result Respectively after 4-week, 8-week, 4-month and 6-month treatments, the clinical control rate, markedly control rate and total effective rate in the electroacupuncture group were significantly higher than that in the medication group. Conclusion Electroacupuncture at Jiaji points plus behavioral intervention is an effective solution to prevent and treat cervical spondylosis.

[Abstrca t] Objective To investigate the inactivation of PMS 2 gene mediated by promoter methylation and its regulatory mechanism in nasopharyngeal carcinoma (NPC).Methods Fifty-four NPC tissues, 16 normal nasopharyngeal epithelia ( NNE) , 5 NPC cell lines ( CNE1, CNE2, TWO3, HNE1 and HONE1) and 1 normal nasopharyngeal epithelial cell line (NP69) were collected.Methylation-specific PCR (MSP) was used to detect the PMS2 promoter methylation, semi-quantitative reverse transcription PCR ( qRT-PCR) was applied to determine its mRNA expression , and immunohistochemistry ( IHC) was used to detect the protein expression of PMS 2.The expressions of PMS 2 mRNA in CNE1 and CNE2 cells before and after treated with methyltransferase inhibitor 5-aza-2-deoxycytidine were analyzed by qRT-PCR.The impact of methylation and demethylation on the mRNA expression of PMS 2, and the association of mRNA and protein expression of PMS 2 with clinicopathological features of nasopharyngeal cancer were analyzed .Results Methylation of PMS2 gene was detected in all of the five NPC cell lines , but not in normal nasopharyngeal epithelial NP69 cells.The methylation rate of PMS2 gene in NPC tissues was 63%(34/54), significantly higher than that of the normal nasopharyngeal epithelia (0/16, P<0.001).The expression levels of PMS2 mRNA and protein were significantly down-regulated in the 54 NPC tissues when compared with those in the 16 NNE tissues (P<0.001), and were also significantly lower in the 34 methylated NPC tissues than those in the 20 unmethylated NPC tissues (P<0.001).After treatment with 5-aza-2-deoxycytidine, the expression of PMS2 mRNA was restored in the CNE1 and CNE2 cells.However, the expressions of PMS2 mRNA and protein were not significantly correlated with patients′age, gender, TNM stage, histopathologic type or lymph node metastasis (P>0.05 for all).Conclusions Promoter methylation -mediated inactivation of PMS2 gene participates in carcinogenesis and development of NPC .PMS2 may be a candidate tumor suppressor in the treatment for patients with inactivation of PMS 2 promoter methylation .

[Abstrca t] Objective To investigate the inactivation of PMS 2 gene mediated by promoter methylation and its regulatory mechanism in nasopharyngeal carcinoma (NPC).Methods Fifty-four NPC tissues, 16 normal nasopharyngeal epithelia ( NNE) , 5 NPC cell lines ( CNE1, CNE2, TWO3, HNE1 and HONE1) and 1 normal nasopharyngeal epithelial cell line (NP69) were collected.Methylation-specific PCR (MSP) was used to detect the PMS2 promoter methylation, semi-quantitative reverse transcription PCR ( qRT-PCR) was applied to determine its mRNA expression , and immunohistochemistry ( IHC) was used to detect the protein expression of PMS 2.The expressions of PMS 2 mRNA in CNE1 and CNE2 cells before and after treated with methyltransferase inhibitor 5-aza-2-deoxycytidine were analyzed by qRT-PCR.The impact of methylation and demethylation on the mRNA expression of PMS 2, and the association of mRNA and protein expression of PMS 2 with clinicopathological features of nasopharyngeal cancer were analyzed .Results Methylation of PMS2 gene was detected in all of the five NPC cell lines , but not in normal nasopharyngeal epithelial NP69 cells.The methylation rate of PMS2 gene in NPC tissues was 63%(34/54), significantly higher than that of the normal nasopharyngeal epithelia (0/16, P<0.001).The expression levels of PMS2 mRNA and protein were significantly down-regulated in the 54 NPC tissues when compared with those in the 16 NNE tissues (P<0.001), and were also significantly lower in the 34 methylated NPC tissues than those in the 20 unmethylated NPC tissues (P<0.001).After treatment with 5-aza-2-deoxycytidine, the expression of PMS2 mRNA was restored in the CNE1 and CNE2 cells.However, the expressions of PMS2 mRNA and protein were not significantly correlated with patients′age, gender, TNM stage, histopathologic type or lymph node metastasis (P>0.05 for all).Conclusions Promoter methylation -mediated inactivation of PMS2 gene participates in carcinogenesis and development of NPC .PMS2 may be a candidate tumor suppressor in the treatment for patients with inactivation of PMS 2 promoter methylation .