ObjectiveTo evaluate the advantages of color doppler ultrasonography guidence in mini-invasive percutaneous nephrostolithotripsy(mPCNL) for pediatric patients.MethodsFrom May 2006 to August 2011,a total of 165 pediatric cases with upper urinary stone,who were treated by mPCNL with F12-F16 access route,were respectively reviewed.All procedures were under the guidance of color doppler ultrasonography,and the pneumatic lithotripsy and/or EMS ultrasound lithotripsy were used to disintegrate the stones.ResultsIn one-stage mPCNL,The average length of the stones was ( 15.82 ±6.31 ) mm,all 165 cases were treated,during which percutaneous renal access was successfully established under color doppler ultrasound guidance and stones were fragmentated.The mean duration of renal access establishment was (11.7 ± 5.3 ) min.The one-stage stone free rate was 95.2％(157/165) with the operation time of (42.6 ± 20.1 ) min.The postoperative hemoglobin aud hematocrit decline were observed in 69.7 ％ ( 115/165 ) of the cases with the value of 2.67 g/L and 2.21％ respectively when compared with their preoperative counterpart. Infection rate related to operation was 23.03％ ( 38/165 ),which was demostrated by durative or iterative fever more than 48 hours.No perioperative bleeding was recorded,and no transfusion was required.No ease experienced perirenal organ injury.Conclusions Using color doppler ultrasound guidance during m-PCNL resulted in safe and effective therapeutic method for upper urinary stone,and can be considered as measures of choice for guidence of mPCNL in pediatric patients.

Objective To analyse the operation technique and therapeutic effect of "inserting" uretero-intestinal anastomosis in orthotopic bladder substitution.Methods Thirty-eight patients undergoing orthotopic bladder substitution operations were followed up,and the way of uretero-intestinal anastomosis in all Datients was the "inserting"uretero-intestinal anastomosis.The therapeutic effect was observed by radiation,cystoscopy,pathologic biopsy and blood test.Results The average follow-up time was(3 1.65±14.14)montll8.and the stricture rate was 4%(3/75),but no vesicoureteric reflux was found.The rate of leakage was 0.Nipples were formed at the site of anastomosis under the view of cystoscope,and among the 7 patients whose nipples were taken to be examined by histology,2 cases were intestinal epithelium which were taken at the base of nipple8.while the others were transitional epithelium which were taken at the top of nipples.The renal function of all patients was normal (Cr 54-135 μmol/L,BUN 3.2-9.4 mmol/L).Conclusion "Inserting"uretem-intestinal anastomosis is an ideal antireflux uretero-intestinal anastomosis method.

Objective To evaluate the efficacy of mitomycin (MMC) intravesical chemotherapy for superficial bladder carcinoma by in vitro chemosensitivity using histoculture drug response assay (HDRA).Methods Forty-one cases of superficial bladder transitional cell carcinoma(TCC) were obtained,including 30 males and 11 females with mean age of 55 years.Of them,10 cases were Ta and 31 were T1 according to TNM stage system (UICC 2002) while 9 cases were G1,22 were G2 and 10 were G3 (WHO1973).All cases had no chemotherapy history before operation and were operated to retain bladder.Tumor specimens were cultured by three-dimensional histoculture.HDRA with im-proved MTT assay was utilized for chemosenstivity test of MMC with 1 g/L concentration and 2 hours exposure.Growth inhibition rate (GI) exceeding 70% was defined as high-sensitive while less than 50% GI was defined as insensitive,others were moderate-sensitive.All cases were performed standard intravesical chemotherapy with MMC 40 mg plus 40 mt saline.Every case was followed up every 3 months.The patients were followed up for 5 years or untill recurrence.Results The MMC chem-osensitivity was different among 41 patients.Thirteen cases were insensitive including 1 of Ta,12 of T1 (P=0.009) and 1 of G1,7 of G2,5 of G3(P=0.101).Total recurrence rate was 39%(16/41) af-ter 3 to 5 years follow-up.There were 1 of Ta,15 of T1 (P=0.059) and 10 of G2 6 of G3 (P=0.016).Insensitive group recurrence rate was 77% (10/13) while sensitive group was 21% (6/28,P= 0.004).Patients in sensitive group showed a longer median time(49.2 months) than patients in insen-sitive group (16.5 months,P<0.001) according to Kaplan-Meier analysis with Log-rank test.The MMC chemosensitivity was independent prognostic factor examed by Cox regression analysis (P= 0.008).There was a 78% correlation rate of chemosensitivity by HDRA to clinical effect of MMC in-travesical chemotherapy.Conclusion HDRA could evaluate MMC intravesical chemotherapy for su-perficial bladder TCC,improve therapeutic effect and lower tumor recurrence rate.

Objective To investigate the characteristics and risk factors of infection after liver transplantation from donor liver of donation after citizen's death. Methods Clinical data of 68 recipients after liver transplantation from donor liver of donation after citizen's death were analyzed retrospectively. The recipients were divided into infection group (33 cases) and non-infection group (35 cases) according to the presence of infection after operation. Major infection characteristics of the 68 recipients after liver transplantation were summarized. Univariate analysis was conducted on the possible risk factors of infection after liver transplantation, and multivariate analysis was further conducted on the risk factors with statistical significance, so as to find out the independent risk factors. In addition, accuracy of predicting infection after liver transplantation was analyzed using receiver operating characteristic (ROC) curves. Results Thirty-three recipients were infected after liver transplantation, accounting for 49% of the total recipients with bacterial infection and fungal infection mainly. These recipients mainly presented pulmonary infection and abdominal cavity infection. Univariate analysis results showed that a total of 8 factors contributed to infection after liver transplantation from donor liver of organ donation, including the donors' open injury, recipients' preoperative hemoglobin level, platelet count, Child-Pugh classification of liver function, model for end-stage liver disease (MELD) score, intraoperative erythrocyte infusion, gamma-glutamyl transpeptidase (GGT) on day 1 after operation and postoperative stay time of intensive care unit (ICU) (all P<0.05). Multivariate Logistic regression results analysis showed that preoperative hemoglobin level <120 g/L and postoperative stay time of ICU >96 h were the independent risk factors of infection after liver transplantation from donor liver of organ donation (both P<0.05). Analysis results of ROC curves showed that preoperative hemoglobin level<114 g/L and postoperative stay time of ICU >102 h resulted in higher accuracy for predicting postoperative infection. Conclusions Infection after liver transplantation from donation after citizen's death presents high incidence, dominated by bacterial infection and fungal infection in lung and abdominal cavity. Low preoperative hemoglobin level and long postoperative stay time of ICU of recipients can increase the risk of infection after liver transplantation.

Objective:To explore the experience of teachers from Guangdong and Macao in nursing teaching cooperation, the existing problems in current teaching cooperation and suggestions for improvement.Methods:From January to April 2021, using descriptive qualitative method to conduct in-depth among eight clinical tutors from The Third Affiliated Hospital of Guangzhou Medical University who teach Macao nursing students, and four teachers from Kiang Wu Nursing College of Macao using the purposive sampling method. And adopted content analysis for data analysis.Results:A total of 4 themes and 2 sub-themes were analyzed: the positive impact of cross-border teaching cooperation projects including developed the nursing business of the two places and deepened the cooperative relationship between the two places; limiting the depth and breadth of knowledge transfer because of the short cross-border learning time; the imbalance between students′ abilities and teachers′ expectations; expectations for homogeneous internships for heterogeneous groups.Conclusions:Cross-border nursing teaching cooperation is an important promoter for the development of nursing education between Guangdong and Macao, but there are still deficiencies in cooperation, and it is necessary for the two places to strengthen the construction of a sharing platform for teaching resources to promote the development of nursing education in the Guangdong-Hong Kong-Macao Greater Bay Area.

The GATOR1 complex is located at the upstream of the mTOR signal pathway and can regulate the function of mTORC1. Genetic variants of the GATOR1 complex are closely associated with epilepsy, developmental delay, cerebral cortical malformation and tumor. This article has reviewed the research progress in diseases associated with genetic variants of the GATOR1 complex, with the aim to provide a reference for the diagnosis and treatment of such patients.
Humans ; GTPase-Activating Proteins/metabolism* ; Signal Transduction/genetics* ; Mechanistic Target of Rapamycin Complex 1/metabolism* ; Epilepsy/genetics* ; Neoplasms

Objective: To analyze the clinical value of real-time PCR for virus detection in the diagnosis and treatment of patients after allo-HSCT who had no infection evidence of pneumonia using routine pathogen detection panel. Methods: The clinical data of 71 episodes with acute lung injury from May 2015 to March 2017 after allo-HSCT in hematology department of Peking University People’s Hospital (PKUPH) were retrospectively analyzed. PCR for virus detection and other routine pathogen detection tests were performed on bronchoalveolar lavage fluid (BALF) samples. Results: Among 71 episodes with acute lung injury, a total of 15 patients were diagnosed as lower respiratory tract disease merely associated with virus (detection rate of 21.13%) , 19 episodes were absent of lower respiratory tract infection. The median time from allo-HSCT to the occurrence of lung injury were 176 (49-1 376) d and 196 (57-457) d respectively (z=-0.191, P=0.864) . There were no statistical differences for baseline characteristics and clinical features between two groups. The 100-day attributable mortalities were 13.3% (2/15) and 26.3% (5/19) (χ²=0.864, P=0.426) . Patients with low-dose steroids treatment had favorable outcome than those with high-dose steroids treatment (the dose of methylprednisolone ≥250 mg/d as standard) [4.2% (1/24) vs 60.0% (6/10) ]. In patients with detectable virus in BALF, 2 patients died with early high-dose steroids treatment, while 11 patients survived with no steroids treatment or late application. Conclusions Virus infection should be considered in post-HSCT pneumonia patient with negative result using routine pathogen detection panel. Expanding virus detection panel by PCR in BALF could increase diagnostic precision and might be instructive to treatment.

OBJECTIVE: To explore the clinical feature and genetic variant of a child with autosomal recessive Charlevoix-Saguenay type spastic ataxia (ARSACS). METHODS: Clinical data of a child who was admitted to the West China Second Hospital of Sichuan University on April 30, 2021 was collected. Whole exome sequencing (WES) was carried out for the child and his parents. Candidate variants were verified by Sanger sequencing and bioinformatic analysis based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). RESULTS: The child, a 3-year-and-3-month-old female, had a complain of "walking instability for over a year". Physical and laboratory examination revealed progressive and aggravated gait instability, increased muscle tone of the right limbs, peripheral neuropathy of the lower limbs, and thickening of retinal nerve fiber layer. The results of WES revealed that she has harbored a maternally derived heterozygous deletion of exons 1 to 10 of the SACS gene, in addition with a de novo heterozygous c.3328dupA variant in exon 10 of the SACS gene. Based on the ACMG guidelines, the exons 1-10 deletion was rated as likely pathogenic (PVS1+PM2_Supporting), and the c.3328dupA was rated as a pathogenic variant (PVS1_Strong+PS2+PM2_Supporting). Neither variant was recorded in the human population databases. CONCLUSION The c.3328dupA variant and the deletion of exons 1-10 of the SACS gene probably underlay the ARSACS in this patient.
Female ; Humans ; Heat-Shock Proteins/genetics* ; Muscle Spasticity/genetics* ; Mutation ; Spinocerebellar Ataxias/pathology* ; Child, Preschool

Objective:To investigate the potential of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in mitigating the adverse prognosis associated with central nervous system leukemia (CNSL) and to assess the significance of prophylactic intrathecal injection.Methods:A retrospective cohort analysis was conducted involving 30 patients with acute leukemia who had a history of CNSL who underwent allo-HSCT at Peking University People′s Hospital between September 2012 and March 2018 (referred to as the CNSL-positive group). In addition, 90 patients with acute leukemia were selected from the same period who underwent allo-HSCT without a history of CNSL (referred to as the CNSL-negative group) and a rigorous 1∶3 matching was performed based on disease type, disease status, and transplantation type to form the control group. The prognosis between the two groups was compared using Kaplan-Meier analysis and the high-risk factors for CNSL relapse post-transplant were identified through Cox proportional-hazards model.Results:The median age of patients in the CNSL-negative group was significantly higher than that of patients in the CNSL-positive group (32 years vs. 24 years, P=0.014). No significant differences were observed in baseline data, including sex, disease type, disease status at transplantation, donor-recipient relationship, and human leukocyte antigen consistency between the two groups. The median follow-up time was 568 days (range: 21-1 852 days). The 4-year cumulative incidence of relapse (71.4%±20.9% vs. 29.3%±11.5%, P=0.005) and the cumulative incidence of CNSL post-transplant (33.6%±9.2% vs. 1.2%±1.2%, P<0.001) were significantly higher in the CNSL-positive group than in the CNSL-negative group. Furthermore, the 4-year leukemia-free survival rate in the CNSL-positive group was significantly lower than that in the CNSL-negative group (23.1%±17.0% vs. 71.5%±11.6%, P<0.001). However, no significant differences were observed in the 4-year cumulative transplant-related mortality and overall survival rates between the two groups (both P>0.05). Multivariate analysis revealed that a history of CNSL before transplantation ( HR=25.050, 95% CI 3.072-204.300, P=0.003) was identified as high-risk factors for CNSL relapse post-transplant. Conversely, haploidentical transplantation was associated with a reduced risk of CNSL relapse post-transplant ( HR=0.260, 95% CI 0.073-0.900, P=0.034). Within the CNSL-positive group, seven patients received prophylactic intrathecal therapy after transplantation, and their CNSL relapse rate was significantly lower than that of the 23 patients who did not receive intrathecal therapy after transplantation (0/7 vs. 9/23, P=0.048). Conclusions:Patients with a history of CNSL have a higher risk of relapse and experience poorer leukemia-free survival following transplantation. The use of prophylactic intrathecal injection shows promise in mitigating CNSL relapse rates, although further validation through prospective studies is necessary to substantiate these observations.

BACKGROUND:Most of the formulas for the clinical treatment of premature ovarian insufficiency have evolved from the basic formula of Liuwei Dihuang Pills,and have achieved good therapeutic efficacy.Currently,most of the experimental studies on Liuwei Dihuang Pills focus on morphological observations and physiological and biochemical detection of in vivo animal models,while fewer studies on molecular mechanisms have been reported. OBJECTIVE:To explore the molecular mechanism of Liuwei Dihuang Pills in the treatment of premature ovarian insufficiency based on the receptor gamma coactivator-1 alpha/mitochondrial transcription factor A/reactive oxygen species pathway. METHODS:Premature ovarian insufficiency model was established in mice by intraperitoneal injection of cyclophosphamide 120 mg/kg combined with busulfan 12 mg/kg,and then Liuwei Dihuang Pill suspension was used to intervene in premature ovarian insufficiency mice.After 12 weeks of intervention,the levels of follicle-stimulating hormone,luteinizing hormone,estradiol,anti-Mullerian hormone,8-hydroxydeoxyguanosine,total antioxidant capacity and reactive oxygen species in serum of mice were detected by ELISA method.The morphological changes in mouse ovaries were observed by hematoxylin-eosin staining.The ultrastructure of mouse follicular granulosa cells and the apoptosis of granulosa cell mitochondria were observed by transmission electron microscopy.The expression levels of receptor gamma coactivator-1 alpha and mitochondrial transcription factor A in mouse ovarian granulosa cells were detected by immunohistochemistry. RESULTS AND CONCLUSION:Compared with the model group,serum levels of follicle-stimulating hormone,luteinizing hormone,reactive oxygen species,and 8-hydroxydeoxyguanosine were decreased in the experimental group(P＜0.05),and the levels of estradiol,anti-Mullerian hormone,and total antioxidant capacity were increased(P＜0.05).Hematoxylin-eosin staining showed that in the model group,there were more atretic follicles and corpus luteum forms,some secondary follicles,and interstitial fibrosis and hyperplasia;in the experimental group,a large number of atretic follicles,few corpus luteum forms,primordial follicles were observed at the edges but there were few secondary follicles and no mature follicles.Transmission electron microscopy showed that the organelles in ovarian granulosa cells of mice in the experimental groups were relatively intact.Immunohistochemical results showed that compared with the model group,the expression level of receptor gamma coactivator-1 alpha in the ovarian tissue of mice increased slightly in the experimental group at the 4th week,and there was no significant change at the 8th and 12th weeks.The expression level of mitochondrial transcription factor A in the ovarian tissues of mice in the experimental group was transiently increased at the 4th week,and then slightly decreased,which were all significantly different from those of the model group.To conclude,Liuwei Dihuang Pills inhibit ovarian granulosa cell apoptosis in mice with premature ovarian insufficiency to a certain extent through the receptor gamma coactivator-1 alpha/mitochondrial transcription factor A/reactive oxygen species signaling pathway,thereby improving the endocrine function of the ovary,enhancing the antioxidant capacity,and attenuating the degree of oxidative stress damage.