Objective:To observe the efficacy of eculizumab in children with atypical hemolytic uremic syndrome.Methods:It was a single-center observational study. The clinical data of children diagnosed with atypical hemolytic uremic syndrome and treated with eculizumab in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 2023 to May 2024 were retrospectively collected. Eculizumab was used at the conventional dose based on the children 's weight. Event-free survival (no death or end-stage renal disease) rate, complete remission rate and recurrence rate of thrombotic microangiopathy in children with atypical hemolytic uremic syndrome after eculizumab treatment were analyzed. The complete remission time of estimated glomerular filtration rate, hemoglobin, platelet, lactic dehydrogenase, urine routine and the adverse reactions during the treatment were observed. Whole exome sequencing was used to conduct genetic testing based on blood samples of the children and their parents.Results:There were 4 children enrolled in the study. Four children were all Han Chinese, including 3 males and 1 female. The median age of onset was 8 years (ranging from 7 to 10 years). Two patients had complement gene abnormalities, both of which were homozygous deletions of complement factor H-related 1 and complement factor H-related 3. All the patients were free of plasma exchange or perfusion after treatment with eculizumab, and the 6-month event-free survival rate and thrombotic microangiopathy complete remission rate were both 4/4. The complete remission time was 19 (14-28) days. The time for the complete recovery of platelets, lactate dehydrogenase, estimated glomerular filtration rate and hemoglobin in 4 children was 4 (1-5), 19 (14-28), 10 (5-14) and 29 (20-42) days, respectively. Except for 1 patient whose urine routine fluctuated between negative and weakly positive expression, the other 3 patients had normal urine routine. All the patients discontinued eculizumab. Two patients without gene mutations discontinued eculizumab after 7 doses, and there was no recurrence during the 1-year follow-up after drug withdrawal. Two patients with genetic abnormalities discontinued eculizumab after 26 weeks of treatment, and no recurrence was found during the 3-month follow-up after drug withdrawal. One patient developed rash approximately 7 days after receiving the third dose of eculizumab. The rash was relieved after anti-allergic treatment, and there was no recurrence after the continued use of eculizumab.Conclusion:Eculizumab is effective and safe in the treatment of children with atypical hemolytic uremic syndrome. Discontinuation of eculizumab can be considered in patients without gene mutations when their condition is stable, but close monitoring and follow-up are needed after drug withdrawal.

Objective:To observe the efficacy of eculizumab in children with atypical hemolytic uremic syndrome.Methods:It was a single-center observational study. The clinical data of children diagnosed with atypical hemolytic uremic syndrome and treated with eculizumab in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 2023 to May 2024 were retrospectively collected. Eculizumab was used at the conventional dose based on the children 's weight. Event-free survival (no death or end-stage renal disease) rate, complete remission rate and recurrence rate of thrombotic microangiopathy in children with atypical hemolytic uremic syndrome after eculizumab treatment were analyzed. The complete remission time of estimated glomerular filtration rate, hemoglobin, platelet, lactic dehydrogenase, urine routine and the adverse reactions during the treatment were observed. Whole exome sequencing was used to conduct genetic testing based on blood samples of the children and their parents.Results:There were 4 children enrolled in the study. Four children were all Han Chinese, including 3 males and 1 female. The median age of onset was 8 years (ranging from 7 to 10 years). Two patients had complement gene abnormalities, both of which were homozygous deletions of complement factor H-related 1 and complement factor H-related 3. All the patients were free of plasma exchange or perfusion after treatment with eculizumab, and the 6-month event-free survival rate and thrombotic microangiopathy complete remission rate were both 4/4. The complete remission time was 19 (14-28) days. The time for the complete recovery of platelets, lactate dehydrogenase, estimated glomerular filtration rate and hemoglobin in 4 children was 4 (1-5), 19 (14-28), 10 (5-14) and 29 (20-42) days, respectively. Except for 1 patient whose urine routine fluctuated between negative and weakly positive expression, the other 3 patients had normal urine routine. All the patients discontinued eculizumab. Two patients without gene mutations discontinued eculizumab after 7 doses, and there was no recurrence during the 1-year follow-up after drug withdrawal. Two patients with genetic abnormalities discontinued eculizumab after 26 weeks of treatment, and no recurrence was found during the 3-month follow-up after drug withdrawal. One patient developed rash approximately 7 days after receiving the third dose of eculizumab. The rash was relieved after anti-allergic treatment, and there was no recurrence after the continued use of eculizumab.Conclusion:Eculizumab is effective and safe in the treatment of children with atypical hemolytic uremic syndrome. Discontinuation of eculizumab can be considered in patients without gene mutations when their condition is stable, but close monitoring and follow-up are needed after drug withdrawal.

To retrospectively analyze the clinical data of a case of shunt nephritis as the manifestation of systemic lupus erythematosus (SLE) admitted to the Department of Nephrology, Wuhan Children′s Hospital in November 2019, and to analyze its clinical characteristics and diagnosis and treatment through literature review.A 11-year-old female child was diagnosed as SLE for fatigue after exercise, onset of gross hematuria, auxiliary detection of anemia, hematuria albuminuria, hypocomplementemia, positive test for the antinuclear antibody, positive test for anti-human globulin, and hyperplastic lesions detected by renal pathology.However, immunosuppressive therapy was not effective.Considering the previous history of congenital hydrocephalus and ventricular and atrial shunt and through literature review, the patient was finally diagnosed was shunt nephritis.After active anti-infection and ventriculoatrial shunt to ventriculoperitoneal shunt, the symptoms were relieved.Shunt nephritis is a rare complication caused by ventricle shunt tract infection.Early recognition and treatment can avoid misdiagnosis and improve prognosis.

【Objective】 To investigate the predictive value of visceral fat area （VFA） in patients with gastric cancer after radical gastrectomy. 【Methods】 A retrospective analysis was performed on 195 patients who underwent radical gastrectomy in the Department of General Surgery， The First Affiliated Hospital of Xi’an Jiaotong University from January 2014 to December 2017. CT image data and clinicopathological data within 1 week before surgery were collected. VFA was calculated by software， and the patients were divided into VFA-H group （n=96） and VFA-L group （n=99）. The relationship between VFA in different groups and long-term prognosis was compared. 【Results】 CT examination results showed that VFA value was （111±62） cm²， and BMI was positively correlated with VFA value （r=0.640， P<0.001）. ROC curve showed that VFA was more valuable in predicting the prognosis of gastric cancer （AUC=0.703， P<0.001） and better than BMI. Cox regression analysis of prognostic factors in gastric cancer patients： Univariate analysis showed that age， tumor length， TNM stage and VFA were the influencing factors for prognosis， while multivariate analysis showed that TNM stage III and VFA-L were independent risk factors for prognosis of gastric cancer patients. 【Conclusion】 VFA has a good predictive ability and can be used to evaluate the prognosis of gastric cancer patients after operation.

Objective:To assess the efficacy of Rituximab (RTX) in treating children with refractory nephro-tic syndrome.Methods:A retrospective study was carried out.Twenty-two children diagnosed with refractory nephrotic syndrome in the Department of Nephrology of Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science and Technology from November 2018 to November 2020 were included in the study.All patients were treated with RTX.Patients with CD 19+ B lymphocytes≥1% total lymphocytes in peripheral blood were supplemented with one dose of RTX (375 mg/m 2), and each patient received 3-4 doses of RTX on average.The patients were treated with Mycophenolate mofetil after early discontinuation of calcineurin inhibitors (CNI). The Kaplan-Meier method was used to analyze the proteinuria relapse-free rate and the incidence of frequently recurrent nephrotic syndrome or steroid-dependent nephrotic syndrome in children after RTX treatment.The relapse times before and after using RTX were analyzed by the Wilcoxon signed rank test.Besides, the body mass indexes (BMI) and height of children before and after RTX treatment were compared by the rank sum test. Results:Of 22 patients studied, 20 patients accomplished the therapeutic protocol.One-year and two-year proteinuria relapse-free survival rates were 85% and 40%, respectively.The recurrence rate was reduced under the discontinuation of CNI.Compared with those before RTX treatment, the BMI and height of all children were significantly improved at 1 year and 2 years after RTX treatment (all P<0.05). However, no significant improvement was observed between 1 or 2 years after RTX treatment (all P>0.05). Conclusions:The use of RTX can effectively reduce the recurrence rate of refractory nephrotic syndrome even when hormones and other immunosuppressants are discontinued.At the same time, RTX can significantly improve the BMI and height of children.RTX is safe and effective for treatment of refractory nephrotic syndrome.

Objective:To investigate and analyze the clinical phenotypes and genotypes in children diagnosed with nephronophthisis (NPHP), and to provide references for clinical diagnosis.Methods:Clinical data of 9 children with NPHP diagnosed by genetic testing in the Department of Nephrology, Wuhan Children′s Hospital from April 2017 to January 2022 were retrospectively collected. The clinical characteristics and genetic test results were analyzed.Results:The median onset age was 11.2(3.4, 14.2) years old in 9 patients, including 5 females and 4 males. There were 8 cases of glomerular proteinuria, 8 cases of renal tubular proteinuria, and 7 cases of reduced urinary gravity in 9 patients. All the children had varying degrees of impaired renal function at the time of diagnosis. Seven cases entered chronic kidney disease (CKD) stage 5, 1 case entered CKD stage 3, and 1 case entered CKD stage 4 at the time of diagnosis. All the children had renal ultrasound abnormalities of varying degrees: size change (3/9), echo enhancement (8/9) and cysts (3/9). Extrarenal phenotypes were present in 3 children. Genetic test showed that 6 patients had mutation of NPHP1 gene, 1 patient had mutation of WDR19 gene, 1 patient had mutation of NPHP3 gene and 1 patient had mutation of NPHP5 gene. Conclusions:Deletion mutation of NPHP1 gene is the most common, while NPHP3, NPHP5 and extremely rare WDR19 mutations have also been found in NPHP patients. The clinical manifestations of NPHP are not typical, so it is necessary to find a specific diagnosis method in the early.

We introduce the portfolio assessment into the classroom teaching reform in the curriculum of Cell Engineering, a specialty course in bioengineering & biotechnology. We established a complete classroom evaluation system that was divided the classroom assessment system of portfolio into four stages including the preparation stage, training stage, implementation stage and exhibition stage. We also discuss the feasibility and necessity of implementing the portfolio evaluation method in the course of cell engineering, the construction of evaluation system, and the key points and matters needing attention in the implementation process. The classroom reform is very productive, not only the classroom atmosphere has been activated, students' learning initiative and autonomy has been enhanced, but also the students' ability to analyze and solve professional problems related to cell engineering technology has been improved. The implementation of classroom teaching reform of this course can provide reference for other similar professional courses in colleges and universities.
Cell Engineering ; Curriculum ; Humans ; Learning ; Students ; Universities

Objective:To summarize critical cases of emergency helicopter transferring between hospitals and improve the quality and safety of critical care.Methods:The task records of Guangxi Aviation Medical Rescue Training Base from September 2017 to September 2020 were retrieved. The mission acceptance, implementation results, disease spectrum composition, pre-transfer preparation and medical intervention on board were summarized.Results:① General information: a total of 168 patients of helicopter transfer requests were registered, of which 36 patients were transferred, 35 patients were successful, 1 patient had cardiac arrest during the landing phase, and died several hours after continuous resuscitation. Of the 36 patients 30 were males and 6 were females, with median age of 50.5 (29.8, 66.0) years old, the average transfer time was (54.95±17.89) minutes, and the average transfer distance was (205.74±74.68) km. ② Disease spectrum included 11 cases of stroke (30.55%), 7 cases of trauma (19.45%), 5 cases of severe pneumonia (13.89%), 5 cases of heart and macro-vascular diseases (13.89%), 5 cases of abdominal emergency (13.89%), and 3 other conditions (8.33%).③ Severity: 31 patients (86.11%) were severe (≥15) according to acute physiology and chronic health evaluation Ⅱ (APACHEⅡ) score; 19 patients (52.78%) were high-risk emergency transport (≥6) according to Hamilton early warning score (HEWS); 6 patients (85.71% of trauma patients) were severe trauma (≥16) according to injury severity score (ISS). ④ Preparation before transfer: remote consultation was carried out to evaluate the latest state of the patient's condition, especially the respiratory and circulatory conditions. Relevant items were reviewed and emergency treatments were implemented when necessary. Targeted preparation was made for accidents that might occur during transfer, such as electrocardiogram (94.44%), blood gas analysis (94.44%), brain CT (36.11%) and other auxiliary examinations, endotracheal intubation or tracheotomy (72.22%), deep vein catheterization (91.67%), placement of gastric tube (86.11%) and urinary tube (88.89%), adjustment of sedative (38.89%), vasoactive drugs (58.33%) and drugs for dehydration and lowering intracranial pressure (33.33%), and fixation of fracture (11.11%), etc. ⑤ On-board medical intervention: cardiac monitoring, blood pressure, respiration and blood oxygen monitoring were carried out in all patients. The parameters of patients using ventilator were adjusted in time (66.67%). The dosage of patients using micropump was adjusted in time (91.67%). Other aspects included the use of sedative and analgesics (38.89%), sputum suction nursing (75.00%), all kinds of catheter nursing (endotracheal intubation/incision nursing of 72.22%, indwelling catheter nursing of 88.89%), and cardiopulmonary resuscitation for patient with cardiac arrest (2.78%).Conclusion:As the patients transferred by helicopter are mainly those of critically ill at this stage, the requirements for airborne medical equipment and rescue technology are high, and there is an urgent need to establish technical specifications and personnel training standards.

Objective To investigate the clinical manifestations and genetic features of children with papillorenal syndrome caused by PAX2 gene mutation.Methods Clinical manifestations,imaging changes and sequencing data were collected and analyzed from a family with papillorenal syndrome who were diagnosed in Wuhan Children's Hospital in February 2018."PAX2","papillorenal syndrome" and "renal coloboma syndrome" were used as key words to search in China National Knowledge Infrastructure,Wangfang Data Knowledge Service Platform,PubMed and Human Gene Mutation Database up to April 2018.Results A ten years old girl was admitted due to "edema and urine output decreased for one week".Lab showed BUN 25.30 mmol/L,Scr 766.5 μmol/L,Urine protein 3.6 g/24 h.Imaging examination showed bilateral vesical and ureter reflux combined with left duplex kidney and duplication of ureter.Developmental dysplasia of the left hip was also found.The father of the patient had been diagnosed with chronic kidney disease for 10 years and on hemodialysis for 6 years.Next generation sequencing revealed that both the father and daughter carried a heterozygous nonsense mutation in the exon3 c.219C ＞ G(p.Y73X) of PAX2.No Chinese literature ever was reported about papillorenal syndrome.Ninety-four articles in English were retrieved and 177 patients with papillorenal syndrome were confirmed by gene analysis with a total of 92 PAX2 variants.Ten nonsense mutations had been reported.Developmental dysplasia of the hip (DDH) never be reported before.Conclusion Papillorenal syndrome caused by PAX2 mutation can mainly manifest as abnormal development of both kidney and optic nerve,which may be accompanied by other systemic abnormalities,it is rarely reported in China.DDH may be a new phenotype of papillorenal syndrome.

Objective To explore the mechanism of thymoquinone (TQ) on NSCLC cytotoxicity.Methods SK-MES-1 was inoculated into 96-well plates and cultured at 20,40,60,80 and 100 μmol/L TQ for 24 h,and the IC50 of TQ was calculated.SK-MES-1 was cultured in close proximity to IC50 concentration TQ,and time-dependent was observed.The ERK inhibitor U0126 and the p38 inhibitor SB203580 were applied to SK-MES-1 and 95-D,respectively,then TQ-activated MAPK-mediated cytotoxicity were observed.The SK-MES-1 expression of p-p38,p38,p-ERK1/2,ERK1/2,pJNK and JNK protein were detected by U0126 pretreatment for 1 h and TQ-cultured for 30 min.Results ① TQ was used to mediate NSCLC cells in a concentration and time-dependent manner,and the viability of NSCLC cells was decreased.② The cell viability of 30 μmol/L TQ and 10 μmol/L U0126 +30 μmol/L TQ showed significant differences (P =0.000),but no significant difference was found when compared with 10 μmol/L SB203580 + 30 μmol/L TQ (P =1.00).10 μmol/L SB203580 + 30 μmol/L TQ was significantly different from 10 μmol/L U0126 + 30 μmol/L TQ (P =0.000).60μmol/LTQ,10μmol/LU0126 + 60μmol/LTQ,10μmol/LSB203580 + 60 μmol/L TQ showed no significant differences between every two groups (P ＞ 0.0 5).With the increase of TQ concentration,the protective effect of SB203580 on 95-D cells gradually decreased,and 10 μmol/L SB203580 +40 μmol/L TQ group was significantly different from 40 μmol/L TQ group (P =0.033).③ Western blot analysis showed that U0126 could significantly inhibit the phosphorylation of ERK1/2,phosphorylated p38 increased with the increasing of TQ concentration.However,ERK1/2 phosphorylation decreased,and JNK phosphorylation did not change significantly.Conclusion TQ can mediate NSCLC cytotoxicity through phosphorylation of p38 pathway,but not ERK1/2 pathway.