Background Recent studies suggest that oral mycophenolate mofetil (MMF) may be similar to intravenous cyclophosphamide in treating lupus nephritis. However, these therapies have not been prospectively compared in childhood-onset lupus nephritis. Methods In this prospective, multicenter, randomized trial, patients aged 5-17 years with proliferative lupus nephritis (class 3/4 +/- 5) and severely increased proteinuria (urine protein-creatinine ratio >= 1000 mg/g and/or 24-hour urinary protein excretion >25 mg/kg) were randomly assigned to receive either MMF or intravenous cyclophosphamide as initial therapy, alongside glucocorticoids. The primary end point was total renal response (TRR) at 24 weeks, with the aim of demonstrating the noninferiority of MMF compared with intravenous cyclophosphamide, using a noninferiority margin of 12%. TRR encompassed complete renal response, primary efficacy renal response, and partial renal response. Secondary end points assessed systemic disease activity and safety. Results A total of 107 patients were enrolled from 17 hospitals, with 52 assigned to the MMF group (47 completed the 24-week therapy) and 55 assigned to the cyclophosphamide group (48 completed the 24-week therapy). In the intention-to-treat population, the TRR rate was 92% in the MMF group and 89% in the cyclophosphamide group (test for noninferiority, P = 0.008). In the per-protocol population, renal response was observed in 96% of patients in the MMF group versus 94% of patients in the cyclophosphamide group (test for noninferiority, P = 0.009). The difference in TRR rate between the MMF and cyclophosphamide groups was 3% (95% confidence interval, -9% to 15%) in the intention-to-treat population and 2% (95% confidence interval, -9% to 13%) in the per-protocol population. There were no significant differences in the incidence of adverse drug reactions between the MMF and cyclophosphamide groups in the intention-to-treat population (10% versus 15%, continuity correction chi-squared test, P = 0.44). Conclusions After 24 weeks of therapy, oral MMF was noninferior to intravenous cyclophosphamide as initial therapy for childhood-onset proliferative lupus nephritis and exhibited a similar safety profile.

The total renal response rate in the mycophenolate mofetil group was found to be noninferior to that in the cyclophosphamide group. There was no significant difference in the incidence of adverse drug reactions between the mycophenolate mofetil and cyclophosphamide groups. The reduction in SLE Disease Activity Index scores was similar between the two groups. Recent studies suggest that oral mycophenolate mofetil (MMF) may be similar to intravenous cyclophosphamide in treating lupus nephritis. However, these therapies have not been prospectively compared in childhood-onset lupus nephritis. In this prospective, multicenter, randomized trial, patients aged 5–17 years with proliferative lupus nephritis (class 3/4±5) and severely increased proteinuria (urine protein-creatinine ratio ≥1000 mg/g and/or 24-hour urinary protein excretion >25 mg/kg) were randomly assigned to receive either MMF or intravenous cyclophosphamide as initial therapy, alongside glucocorticoids. The primary end point was total renal response (TRR) at 24 weeks, with the aim of demonstrating the noninferiority of MMF compared with intravenous cyclophosphamide, using a noninferiority margin of 12%. TRR encompassed complete renal response, primary efficacy renal response, and partial renal response. Secondary end points assessed systemic disease activity and safety. A total of 107 patients were enrolled from 17 hospitals, with 52 assigned to the MMF group (47 completed the 24-week therapy) and 55 assigned to the cyclophosphamide group (48 completed the 24-week therapy). In the intention-to-treat population, the TRR rate was 92% in the MMF group and 89% in the cyclophosphamide group (test for noninferiority, P = 0.008). In the per-protocol population, renal response was observed in 96% of patients in the MMF group versus 94% of patients in the cyclophosphamide group (test for noninferiority, P = 0.009). The difference in TRR rate between the MMF and cyclophosphamide groups was 3% (95% confidence interval, −9% to 15%) in the intention-to-treat population and 2% (95% confidence interval, −9% to 13%) in the per-protocol population. There were no significant differences in the incidence of adverse drug reactions between the MMF and cyclophosphamide groups in the intention-to-treat population (10% versus 15%, continuity correction chi-squared test, P = 0.44). After 24 weeks of therapy, oral MMF was noninferior to intravenous cyclophosphamide as initial therapy for childhood-onset proliferative lupus nephritis and exhibited a similar safety profile. MMF versus cyclophosphamide in the Induction Therapy of Pediatric Active Proliferative lupus nephritis, ClinicalTrials.gov, NCT05495893.

1例13岁7月龄系统性红斑狼疮女童因“烦渴、多饮、多尿、夜尿增多半年”就诊。经过内分泌激素水平检验、垂体磁共振成像平扫+增强检查、禁水试验及垂体加压试验，排除其他原因引起的中枢性尿崩症，诊断为自身免疫性垂体炎。儿童系统性红斑狼疮合并自身免疫性垂体炎临床罕见，大剂量糖皮质激素冲击联合免疫抑制剂治疗可有效改善垂体炎症状，远期预后需继续随访。

Background Atypical hemolytic uremic syndrome (aHUS) with diacylglycerol kinase epsilon ( DGKE ) gene variant is a rare variant of thrombotic microangiopathy (TMA). The information on the clinical features, management and long-term outcomes of DGKE -aHUS patients have not yet been fully elucidated. The aim of this study was to report a novel variant of the DGKE gene in a Chinese population with aHUS. Case presentation The present work reports a 7-month-old boy with aHUS, possibly triggered by gastrointestinal infection, without complement activation, with little response to plasma therapy and nephroprotective measures. The patient died during the 8th week of his hospital stay. The causes of death were intracranial hemorrhage and multiorgan dysfunction. Comprehensive WES of peripheral blood-derived DNA revealed two heterozygous variations in the DGKE exon region: NM_003647.2, c.610dup, p.Thr204Asnfs*4 and deletion of exons 4–6. Conclusions This case suggest that atypical HUS with DGKE gene variant has a poor prognosis with a high mortality rate, which typically manifests in the first year of life and presents as a systemic disease with early-onset HUS with rapidly worsening renal function and chronic proteinuria. There is no specific treatment for DGKE -aHUS. There have an uncertain benefit of plasma therapy for DGKE -aHUS patients. The literature demonstrated that anti-complement therapy showed benefits for DGKE -aHUS with complement activation and autoantibodies during the overt TMA presentation but did not prevent TMA relapses. Early diagnosis and treatment may prevent complications and improve prognosis.

目的 分析系统性红斑狼疮(SLE)合并血栓性血小板减少性紫癜(TTP)患者的临床特点、诊治与预后.方法 回顾性分析13例SLE合并TTP患者的临床特征和实验室检查资料.结果 13例患者中,男4例,女9例.其中,5例诊断为SLE后确诊为TTP,8例同时诊断SLE和TTP.3例为SLE中度活动,10例为SLE重度活动.患者均出现血小板减少、微血管病性溶血性贫血和乳酸脱氢酶(LD H)水平升高.患者主要的临床症状包括发热(12例)、肾功能损害(11例)和神经系统异常(10例).7例患者接受糖皮质激素联合免疫抑制剂治疗,3例有效;6例患者接受血浆置换联合糖皮质激素及免疫抑制剂治疗,5例有效.6例患者长期随访病情稳定,5例死亡,2例失访.结论 SLE合并TTP患者常伴随SLE中、重度活动.当患者出现肾脏及神经系统症状时,应及时检测LDH水平与外周血涂片.糖皮质激素联合免疫抑制剂基础上早期联用血浆置换有利于改善SLE合并TTP患者预后.

Objective:To investigate the clinical significance of serum 25-hydroxyvitamin D [25(OH)D] level in patients with connective tissue disease (CTD) related-pulmonary arterial hypertension (PAH).Methods:CTD patients with PAH (CTD-PAH) and without PAH (CTD-non-PAH) were colle-cted. All data were analyzed.Results:The serum 25(OH)D in the CTD-PAH group was significantly lower than that in the CTD-non-PAH group [(14±8) ng/ml vs (20±8) ng/ml, t=-5.94, P<0.001]. The 25(OH)D deficiency rate in the CTD-PAH group 86.2%(112/130) was significantly higher than that in the CTD-non-PAH group 57.7% (75/130) ( χ2=26.07, P<0.001), while the insufficiency rate was significantly lower [10.0%(13/130) vs 32.3% (42/130), χ2=19.39, P<0.001]. Serum 25(OH)D levels in the systemic lupus erythematosus (SLE), systemic sclerosis (SSc) associated PAH group were lower than those in the SLE [14(8, 17) ng/ml vs 19(15, 23) ng/ml, Z=-3.66, P<0.001], SSc [11(8, 17) ng/ml vs 24(18, 30) ng/ml, Z=-4.97, P<0.001] without PAH group. The levels of serum 25(OH)D in CTD-PAH youthful group, in the middle age group were lower than that in CTD-non-PAH youthful group [(12±8) ng/ml vs (19±8) ng/ml, t=-4.36, P<0.001] and in the middle age group [(14±7) ng/ml vs (21±8) ng/ml, t=-3.75, P<0.001]. Serum levels of 25(OH)D [ OR (95% CI)=1.100 (1.058, 1.144), P<0.001], uric acid [ OR(95% CI)=0.996(0.993, 0.998), P=0.003], immune globulin (Ig)G [ OR(95% CI)=1.123(1.057, 1.194), P<0.001] were associated with PAH in CTD patients. Serum 25(OH)D was positively correlated with calcium ( r=0.24, P=0.007), while negatively correlated between serum 25(OH)D and IgM ( r=-0.34, P<0.001). Conclusion:The occurrence and development of CTD-PAH may be related to the decrease of 25(OH)D level. Serum 25(OH)D level is associated with PAH in CTD patients.

病例1:患儿,男,1岁10个月,因"发热1周"于2011年10月19日入院.查体:躯干见少许散在红色斑丘疹,颈部、颌下触及数枚肿大淋巴结,结膜无充血,唇红干裂,见杨梅舌,咽充血,双侧扁桃体Ⅰ度肿大,卡介苗接种后瘢痕红.血常规:白细胞18.21×109/L,中性粒细胞86.1％.CRP 90.26 mg/L.

Pancreatitis is uncommon in systemic lupus erythematosus (SLE) and is rarely reported in children, possibly being related to macrophage activation syndrome (MAS). The incidence of MAS in children with lupus pancreatitis is unknown, as is their prognosis. In this case-based review, we report a pediatric patient with SLE complicated with pancreatitis and MAS, and performed a literature review. We report an 11-year-old girl with SLE and MAS who developed pancreatitis on the second day of methylprednisolone pulse therapy (500 mg/day). We continued methylprednisolone pulse therapy, and performed three rounds of DNA-immunoadsorption and three rounds of hemoperfusion. A second course of methylprednisolone pulse therapy was initiated 9 days later. The patient received a monthly cyclophosphamide pulse therapy (10 mg/kg/day, 2 consecutive days every month) for 6 months, after which she was treated with mycophenolate mofetil 20 mg/kg/day. The condition of the patient gradually improved, her blood amylase and lipase decreased. She was in a stable condition during 13-month follow-up period. Review of the literature of pediatric patients with SLE and pancreatitis showed that there are 127 cases that have been reported in the past 30 years, 40 cases were excluded in our study because of inadequate information. Of the 87 patients included in our literature review, the mortality rate was 33.33%, and 52.86% of the patients with pancreatitis had MAS at the same time. Pancreatitis is uncommon in SLE, but must be suspected if a patient with SLE develops digestive symptoms. Patients with SLE with pancreatitis have a high incidence of MAS and high mortality rate; however, early recognition and effective treatment can relieve the disease symptoms.

Background Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalonic acid and homocysteine in blood and urine. Often, combined methylmalonic acidemia (MMA) and homocysteinemia is misdiagnosed due to a lack of specific symptoms. The clinical manifestations are diverse, but proteinuria as the initial presentation is rare. Case presentation Two cases of MMA with homocysteinemia in children are reported. Proteinuria were a primary presenting symptom, followed by anemia and neurologic symptoms (frequent convulsions and unstable walking, respectively). Screening of amino acids and acyl carnitine in serum showed that the propionyl carnitine:acetylcarnitine ratio increased. Profiling of urinary organic acids by gas chromatography-mass spectrometry revealed high levels of methylmalonic acid. Homocysteine content in blood was increased. Comprehensive genetic analyses of peripheral blood-derived DNA demonstrated heterozygous variants of methylmalonic aciduria type C and homocystinuria (MMACHC) and amnionless (AMN) genes in our two patients, respectively. After active treatment, the clinical manifestations in Case 1 were relieved and urinary protein ceased to be observed; Case 2 had persistent proteinuria and was lost to follow-up. Conclusions Analyses of the organic acids in blood and urine suggested MMA combined with homocysteinemia. In such diseases, reports of renal damage are uncommon and proteinuria as the initial presentation is rare. Molecular analysis indicated two different genetic causes. Although the pathologic mechanisms were related to vitamin B12, the severity and prognosis of renal lesions were different. Therefore, gene detection provides new insights into inherited metabolic diseases.

Objective:To determine the concentration of hydroxychloroquine (HCQ) and its active metabolite deethylhydroxychloroquine (DHCQ) in breast milk of lactating patients with autoimmune disease. To observe the safety of hydroxychloroquine in lactation period, and to explore the factors that may affect HCQ and DHCQ concentration in the milk.Methods:Lactating patients with autoimmune disease who have taken HCQ for at least 6 months were included in our study. A new high performance liquid chromatography (HPLC) method was established to detect HCQ and DHCQ levels in breast milk. Milk samples were collected at different time points: before taking the drug (0 hours), and 2 hours, 4 hours, 6 hours after taking the drug. In addition, the genotype of cytochrome CYP3A4*1G, CYP3A5*3 and CYP2D6*10 which were related to HCQ metabolism were tested by dideoxy chain termination method. Visual acuity, hearing and growth status of the patients' infants were followed up on a regular basis. T-test, one-way ANOVA and Pearson's test were used for data analysis. Results:In 15 patients, the average concentration of HCQ and DHCQ in the milk of patients taking 200 mg/d were (520±261) ng/ml and (177±112) ng/ml, respectively. While the average concentration of HCQ and DHCQ in the milk of patients taking 400 mg/d were (1 036±374) ng/ml and (397±271) ng/ml, respectively. The peak of HCQ level for 11 patients was at 4 hour after taking the drug, while the others' were at 2 hour. The breast-fed infants did not show any abnormal symptoms of hearing, vision and growth. However, cytochrome gene polymorphism did not affect the peak of HCQ and DHCQ.Conclusion:The concentration of HCQ and DHCQ in breast milk is positively correlated to the dosage. The peak level of HCQ milk is 4 hours after taking the drug. The levels of HCQ and DHCQ at 6 hours are similar as those in the whole blood. It is suggested that patients who take HCQ can feed 4 hours after taking the drug to reduce the HCQ and its active metabolites being absorbed by infants. However, the impact of HCQ on infant safety and gene polymorphism of CYP on milk concentration among individuals needs to be further verified in large sample studies and long-term follow-up.

Background X-linked lymphoproliferative disease (XLP) is a rare inherited X-linked primary immunodeficiency diseases (PID). One such disease, X-linked inhibitor of apoptosis protein (XIAP) deficiency, is characterized by Epstein–Barr virus-related hemophagocytic lymphohistiocytosis (EBV-HLH). However, EBV-HLH with coronary artery dilation and acute renal injury (AKI) in children is unusual. Case presentation We report the case of a young boy aged 17 months with a novel XIAP variant. He was initially diagnosed with EBV-HLH based on the HLH-2004 diagnostic criteria and the condition was accompanied by coronary artery dilation and acute renal injury. The comprehensive genetic analysis of peripheral blood-derived DNA revealed a hemizygous variant of the XIAP gene [c.116G > C(p.G39A)], which was inherited from his mother (heterozygous condition). After combined treatment with rituximab, intravenous immunoglobulin, corticosteroids, antiviral drugs, and mycophenolate mofetil (MMF) in addition to supportive therapy, his clinical manifestations and laboratory indexes were improved. The patient achieved complete remission with MMF treatment in the 8-month follow-up. Conclusions We report the [c.116G > C(p.G39A)] variant in the XIAP gene for the first time in a case of XLP-2 associated with EBV-HLH. For male patients with severe EBV-HLH, the possibility of XLP should be considered and molecular genetic testing should be used early in auxiliary diagnosis. Reports of EBV-HLH with coronary artery dilation and AKI in children are rare. In the patients with EBV-HLH, color Doppler echocardiography and urine tests should be monitored regularly. If necessary, renal biopsy can be performed to clarify the pathology. Treatment with rituximab, immunosuppressors and supportive therapy achieved a good effect, but long-term follow-up is required.

目的 观察异基因间充质干细胞(MSCs)移植干预原发性胆汁性胆管炎(PBC)小鼠对肝内胆管上皮细胞(IBECs)自噬的调控作用及其分子机制.方法 将30只C57BL/6小鼠随机分为模型组(n=18)、BSA组(n=6)和未处理组(n=6).采用2-辛炔酸结合牛血清白蛋白(2-OA-BSA)注射诱导PBC模型.再将PBC模型小鼠随机分为模型组(PBC组,n=4)、MSCs移植干预组(MSCs组,n=6)和转录激活因子3(STAT3)抑制剂干预组(Stattic组,n=6).采用灌流法分离肝内胆管树纯化IBECs,采用WB法检测IBECs组织STAT3/pSTAT3、p62、LC3、PKR/pPKR、Beclin-1蛋白、eIF2α/peIF2α、LAMP-1表达,采用RT-PCR法检测STAT3、LC3和p62-mRNA,使用电镜观察IBECs内自噬泡形成.结果 模型组肝组织汇管区淋巴细胞浸润并有散在的肉芽肿形成,而MSCs和Stattic干预组小鼠汇管区炎性细胞浸润减少;模型组小鼠IBECs自噬蛋白Beclin-1、STAT3和pSTAT3表达较BSA组增强,而MSCs移植和Stattic干预组上述蛋白表达减弱;模型组和MSCs组p62 mRNA水平较BSA组下降,模型组STAT3 mRNA水平较BSA组下降.结论 我们成功建立了2-OA-BSA诱导的PBC小鼠模型,MSCs移植干预通过下调STAT3表达减轻了PBC小鼠肝组织汇管区损害,可能与调控小鼠体内自噬相关蛋白表达有关.

目的:建立一种高效液相色谱法检测全血中羟氯喹及其代谢物去乙基羟氯喹、去乙基氯喹的新方法,并分析干燥综合征患者血药浓度与免疫相关临床指标的相关性.方法:取100μL全血样本,加入内标,以两倍量的乙腈沉淀蛋白,离心取上清进样.用Zorbax SB-C18色谱柱分离,流动相为0.2 mol·L-1磷酸二氢钾-乙腈=15∶85(磷酸调至pH3.0),流速1 mL·min-1,检测波长254 nm,柱温35℃.考察该方法的专属性、标准曲线和定量限、精密度和准确度、提取回收率、稳定性;测定53例患者羟氯喹及其代谢物血药浓度,并收集患者白细胞水平、血小板计数、谷丙转氨酶、谷草转氨酶、血细胞沉降率等临床检验指标,用SPSS软件分析血药浓度与临床指标的关系.结果:羟氯喹、去乙基羟氯喹、去乙基氯喹、内标氯喹的保留时间分别在8.6,4.1,5.2 min和12.8 min左右,羟氯喹及其代谢物在3～3000 ng· mL-1范围内线性良好,最低定量限为3ng·mL-1,批内、批间精密度、方法回收率符合要求;患者用药后白细胞水平有明显降低,其他临床指标无明显变化,血药浓度高组患者白细胞水平较高,其他指标在高低浓度组间没有明显差异.结论:该方法灵敏度高、结果准确、样品处理简单、分析快速,可用于临床检测.干燥综合征患者服用羟氯喹后白细胞计数有统计学差异,服药后高浓度组患者白细胞计数显著高于低浓度组患者.

幼年特发性关节炎(juvenile idiopathic arthritis, JIA)是儿童时期常见的结缔组织病,全身型幼年特发性关节炎(systemic-onset JIA,SOJIA)是其中一个亚型,SOJIA合并严重肝功能不全并不常见,但发展成肝脏衰竭死亡率高.本文通过比较2例幼年特发性关节炎全身型合并严重肝功能不全患儿的临床特点和治疗及预后,探讨血液灌流的作用,以期为此类患者的治疗提供借鉴.

Objectives To investigate the etiology, renal pathology, treatment, and prognosis of children's urinary system injury after hematopoietic stem cell transplantation (HSCT). Methods Clinical data of 81 children with urinary dysfunction after HSCT admitted to the Hematology Department in Children's Hospital of Soochow University were analyzed, and relevant literatures were reviewed. Results In 81 cases (50 males and 31 females), the age ranges from 8 months to 17 years old. Thirty cases (37%) with prerenal injury were recovered after active rehydration and other symptom specific treatment. There were 9 (11.1%) children with renal injury, four cases were given up therapy or transferred to other hospitals, thus lead to an unknown prognosis. Kidney biopsy was performed in the remaining five cases for pathological investigation. After active symptom-speific and etiology-based treatment, serum creatinine and glomerular filtration rate of four cases return to normal. But in the long-term follow-up,one case died of recurrence of primary disease, reinfusion of hematopoietic stem cell combined with renal failure. The remaining 3 patients were with chronic kidney disease (CKD). One case with renal thrombotic microangiopathy was in the chronic dialysis. Postrenal renal injuries were mainly hemorrhagic cystitis (28.4%) and urinary tract infection (16%). After a large dose of rehydration, urine alkalization and anti-infection therapy, they were recovered in the short term with a good prognosis. Conclusions Urinary injury after HSCT is mainly divided into three categories: prerenal, renal and postrenal, in which renal injury is prone to frequent recurrence.

目的 分析5例过敏性紫癜合并中枢神经系统损伤患儿的临床资料,探讨诊治及预后.方法 2011年2月至2015年10月,苏州大学附属儿童医院肾脏风湿免疫科及神经内科共收治5例过敏性紫癜合并中枢神经系统损伤的患儿.采用回顾性分析的方法,记录5例患儿的临床表现、影像学检查结果、实验室检查结果及治疗方法,并随访患儿预后.结果 4例患儿有消化道症状.1例患儿在反复消化道症状的基础上出现意识不清等中枢神经系统症状,其余4例患儿仅有头痛.2例患儿影像学结果异常,头颅MRI分别示双侧侧脑室后角旁、右侧顶叶脑白质的长T1、长T2、FLAIR呈高信号;其余3例头颅CT及MRI均未见明显异常.体液免疫检查结果示IgA、IgG不同程度升高.4例患儿脑脊液常规示白细胞、总细胞计数增多;脑脊液免疫球蛋白示不同程度的IgA、IgG升高.1例患儿未使用糖皮质激素;3例患儿予糖皮质激素及对症治疗;1例患儿在激素减量过程中发生中枢神经系统症状,予激素加量并联合应用丙种球蛋白,预后均良好.结论 过敏性紫癜合并中枢神经系统损伤的临床表现主要有头痛、精神状态改变等,可伴随消化道症状;头颅影像学显示病变多累及大脑后部;早期积极应用糖皮质激素以及对症治疗后,短期内多可恢复,预后良好,但仍需长期随访.

Objective To investigate the abnormality of intrahepatic biliary epithelial cells autophagy in primary biliary cirrhosis (PBC) mice,and explore the mechanism of UC-Mesenchymal stem cell (MSCs) in treating PBC.Methods After establishing the PBC model,we divided them into the PBC model group;the UC-MSCs treatment group and the Stattic group [Signal transducer and activator of transcription 3 (STAT3) inhibitor group].Six mice were used as the control group.Liver pathology and the serum pyruvate dehydrogenase complex E2 subunit (PDC-E2) antibody titers were detected.Autophagosome of the intrahepatic biliary epithelial cell was observed by electronic microscope.Protein levels of STAT3/pSTAT3,Beclin-1 were detected by western blot.We cultured human intrahepatic biliary epithelial cells in vitro,and down regulated STAT3.After stimulated by GCDC,we co-cultured them with UC-MSCs,and collected the cells in order to detect LC3 Ⅱ.The measurement data were compared with t test or single factor analysis of variance.Results Compared with the control group,periportal inflammatory cell infiltration and granuloma formation were observed in the PBC group.MSCs treatment decreased the infiltration of inflammatory cells.The level of antiPDC-E2 of the PBC group (107±18) ng/ml was higher than that of the control group (42±6) ng/ml (q=6.326,P＜0.01),MSCs treatment down regulated anti-PDC-E2 level (43±4) ng/ml (q=5.801,P＜0.01).More autophagosomes in the PBC group (5.00±1.29) than the control group (1.75±0.25) were observed (q=4.061,P＞0.05).Western blot showed that the level of Beclin-1 was higher in PBC group (1.80±0.36) than the control group (0.40±0.20) (q =6.757,P＜0.01),MSCs reduced the expression of Beclin-1 (0.86±0.06)(q=4.536,P＜0.05) as well as Stattic (0.72±0.03) (q=5.226,P＜0.05).PBC group had a higher expression level of STAT3 (1.80±0.42) (q=5.730,P＜0.05) and pSTAT3 (2.04±0.29)(q=6.492,P＜0.01) than the control group (0.50±0.05)(0.91±0.14).MSCs treatment decreased the expression of STAT3 (0.51±0.13)(q =5.703,P＜0.01) and pSTAT3 (0.76±0.07) (q =7.388,P＜0.01) in intrahepatic biliary epithelial cells.After down regulated STAT3 of HiBECs,MSCs reduced the expression of LC3 Ⅱ of HiBECs.Conclusion The intrahepatic biliary epithelial cells autophage of PBC mice is abnormal,MSCs can alleviate PBC by down regulating the autophage of intrahepatic biliary epithelial cells via STAT3.

目的 了解口腔癌患者外周血免疫变化与临床结局之间的关系.方法 收集郴州市某三甲医院40例口腔癌患者病例资料进行回顾性研究,分析治疗期间的外周免疫及肿瘤标志物变化及与临床结局的关系.结果 在住院期间白细胞、中性粒细胞和单核细胞绝对数随治疗后逐步下降(从第1周到第11周的变化分别是(6.20±1.70)×109/L至到(3.50±0.80)×109/L,(4.30±1.50)×109/L至到(1.70±0.08)×109/L,(0.43±0.18)×109/L至到11周(0.26±0.05)×109/L(均P＜0.05).中性粒细胞的百分比也出现明显下降(从第1周到第11周的变化是65.2％±9.2％到11周的49.2％±4.9％)(P＜0.05).但是淋巴细胞绝对数在下降到第5周后不再下降,并保持一定的水平.死亡的口腔癌患者淋巴细胞/中性粒细胞和淋巴细胞/单核细胞比值随病程延长的要明显低于治疗好转出院者(P＜0.05).相关性分析发现淋巴细胞/中性粒细胞与癌胚抗原(CEA)之间存在负相关(r=-0.28,P＜0.05).结论 口腔癌患者外周血中淋巴细胞与中性粒细胞和单核细胞比值明显下降可能提示预后不良.

目的 分析Gitelman综合征的临床表现、实验室检查、诊断和治疗方法,进一步提高诊疗水平.方法 回顾性分析2010年9月至2014年6月苏州大学附属儿童医院肾脏科收治的6例Gitelman综合征患儿的临床资料.结果 6例均存在全身乏力等临床表现,以双下肢乏力为主,生化检查示不同程度的低血钾、低血镁及代谢性碱中毒,肾素-醛固酮-血管紧张素Ⅱ水平见不同程度的升高,SLC12A3基因测序阳性,经对症治疗后长期随访,未出现相关并发症.结论 儿童Gitelman综合征以双下肢乏力为主要临床表现,伴有低血钾、低血镁等,通过检查尿钙与肌酐比值、血镁、尿镁、肾素活性、血管紧张素Ⅱ和醛固酮水平,结合检测到血清SLC12A3基因上的变异等可确诊.该病治疗以补钾、补镁、醛固酮拮抗剂等多种药物联合应用为主,虽不能治愈,但预后良好.