Objective Based on ultra-high performance liquid chromatography-quadrupole time-of-flight mass spectrometry(UPLC-Q-TOF/MS),the potential biomarkers and metabolic mechanisms of adult calcium oxalate urolithiasis were identified to guide the diagnosis and treatment of calcium oxalate lithiasis.Methods Blood samples of 36 patients diagnosed with bilateral upper urinary tract calcium oxalate stones and 36 healthy controls admitted to our hospital during Oct.2017 and Jul.2018 were collected.Metabolic fingerprints were analyzed with UPLC-Q-TOF/MS.The multivariate data were analyzed with principal component analysis(PCA)and orthogonal partial least squares discriminant analysis(OPLS-DA).Potential biological markers were identified by comparing human metabolome datasets.Finally,the metabolic pathways of the identified compounds were analyzed and the metabolic network map was constructed.Results PCA and OPLS-DA showed significant differences in blood metabolites between patients and healthy controls,and identified 29 blood-related metabolites,including linoleic acid,citric acid,uric acid and so on.The most relevant blood metabolic pathways were bile acid synthesis pathway,fatty acid biosynthesis pathway,glycerophospholipid metabolism pathway,sphingolipid metabolism pathway and purine metabolism pathway.Conclusion Blood metabolomics analysis based on the UPLC-Q-TOF/MS platform identified 29 potential blood biomarkers of adult calcium oxalate urolithiasis,and purine and lipid metabolism may be related to the genesis of calcium oxalate stones.

Objective:To evaluate the safety and effectiveness of incision and drainage with Holmium laser under flexible ureteroscope in the treatment of parapelvic cysts.Methods:The clinical data of 21 patients with parapelvic cysts in Beijing Friendship Hospital, Capital Medical University from January 2018 to December 2022 were retrospectively analyzed, including 10 males and 11 females. The average age was (62.86±5.38) years, and median age was 63.0 years, aged from 36-72 years. The maximum diameter of the cyst was 33-71 mm, with an average of (53.46±9.68) mm. There were 15 cases with homolateral hydronephrosis and 6 cases with homolateral renal calculus. The patients included in the study were treated with incision and drainage with Holmium laser under flexible ureteroscope. The double J ureteral catheter was removed and the urinary system ultrasound was repeated one month after surgery. CT on bilateral kidney was repeated every 6 months until 12 months after surgery. Subsequently, ultrasound on bilateral kidney was reviewed regularly every year. Prognostic indexes sunch as operation time, postoperative hospital stay, postoperative time of getting out of bed, intraoperative blood loss, recurrence and shrinkage of renal cysts were recorded.Results:Of the 21 patients who underwent incision and drainage with Holmium laser under flexible ureteroscope, 9 cases (42.9%) underwent the one-stage operation and 12 cases (57.1%) underwent the two-stage operation. The mean operative time was (41.57±10.86) min, the mean postoperative hospitalization time was (2.90±1.06) d, the mean time of getting out of bed was (0.53±0.30) d, and the mean intraoperative blood loss was (6.52±2.15) mL. No significant recurrence of cysts was observed in all patients after 6-60 months of follow-up, and the cysts disappeared completely or shrank significantly.Conclusion:Incision and drainage with Holmium laser under flexible ureteroscope is safe and reliable in patients with parapelvic cysts, with short operation time, minor blood loss, rapid postoperative recovery and low recurrence rate, which is one of the ideal treatment options for parapelvic cysts.

Objective:To explore the effect of Helicobacter pylori(HP)eradication on development of metachronous gastric cancer(MGC)after endoscopic submucosal dissection(ESD)in elderly patients with early gastric cancer.Methods:From January 2014 to December 2019, 748 early gastric cancer patients aged 60 years or older, receiving ESD in Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School, were included.According to the situation of HP infection and eradication efficacy within 1 year postoperatively, patients were divided into three groups.The patients with HP infection and successful HP-eradication were enrolled into successful eradication group, those without eradicating or with eradication failure were enrolled into eradication failure group, those with HP negative were enrolled into HP-negative group.And then the occurrence and risk factors of MGC after ESD among the three groups were statistically analyzed.Results:MGC were detected in 58 cases(7.7%)in elderly patients with early gastric cancer after ESD.The median follow-up time was 39 months.The multivariate regression analysis results of MGC showed that no HP-eradication or HP eradication of failure( HR=2.231, 95% CI: 1.054-4.722, P=0.036)and multiple lesions( HR=1.857, 95% CI: 1.076-3.204, P=0.026)were independent risk factors.Non-smoking was a protective factor for the occurrence of MGC( HR=0.409, 95% CI: 0.234-0.716, P=0.002). After adjusting for confounding factors, Cox proportional risk regression analysis showed that the incidence of MGC was significantly higher in group of no HP-eradicating or HP-eradicating of failure than in group of successful HP-eradicating group( χ2=37.877, P<0.001). Conclusions:HP eradication can effectively prevent MGC in elderly patients with early gastric cancer after ESD.Multiple lesions and smoking are independent risk factors for MGC.

OBJECTIVE: To explore the genetic etiology for a Chinese pedigree affected with Lesch-Nyhan syndrome. METHODS: Members of the pedigree who had visited the Genetic Counseling Clinic of Linyi People's Hospital on February 10, 2022 were selected as the study subjects. Clinical data and family history of the proband were collected, and trio-whole exome sequencing (trio-WES) was carried out for the proband and his parents. Candidate variants were verified by Sanger sequencing. RESULTS: Trio-WES revealed that both the proband and his cousin brother had harbored a hemizygous c.385-1G>C variant in intron 4 of the HPRT1 gene, which was unreported previously. A heterozygous c.385-1G>C variant of the HPRT1 gene was also found in the proband's mother, grandmother, two aunts, and a female cousin, whilst all phenotypically normal males in his pedigree were found to have a wild type for the locus, which has conformed to an X-linked recessive inheritance. CONCLUSION The heterozygous c.385-1G>C variant of the HPRT1 gene probably underlay the Lesch-Nyhan syndrome in this pedigree.
Male ; Humans ; Female ; Lesch-Nyhan Syndrome/genetics* ; Pedigree ; East Asian People ; Heterozygote ; Introns ; Mutation

OBJECTIVE: To assess the association of gene expression with development potential of early embryos derived from patients with polycystic ovary syndrome (PCOS). METHODS: Three pairs of infertile patients with respectively matched age, body mass index, ovarian reserve and treatment with gonadotrophin-releasing hormone (GnRH) antagonists were selected. Patients with fewer embryos were assigned as the case group (n = 3), whilst the remainders were assigned as the control group (n = 3). Ovarian granulosa cells from patients were collected for the extraction of total RNA and subjected to RNA sequencing. The results were subjected to differential gene expression and functional enrichment analyses. RESULTS: Compared with the control group, 76 genes were up-regulated and 110 genes were down-regulated in the case group. The level of estradiol (E₂) was significantly higher in the control group on the trigger day with the injection of human chorionic gonadotrophin (HCG). Compared with the control group, the KRT7 gene was most significantly up-regulated, whilst the CCNYL2 gene was most significantly down-regulated in the case group. Gene ontology (GO) entries enrichment has found those associated with chromosome segregation, cell cycle regulation, and fatty acid metabolism to be significantly enriched. The genes participating in the regulation of cell assembly, differentiation, negative regulation of cell cycle, negative regulation of development, extracellular regulated protein kinases (ERK), ERK1 and ERK2 signaling pathways to be significantly down-regulated. KEGG enrichment analysis of cell signaling pathways revealed that steroid hormone biosynthesis-related genes were enriched. CONCLUSION Among patients treated with GnRH antagonists, the significant difference in the number of oocytes fertilized in vitro and the number of available embryos are associated with the difference in the expression of genes of ovarian granulosa cells.
Female ; Humans ; Pregnancy ; Embryonic Development ; Gene Expression ; Gonadotropin-Releasing Hormone/antagonists & inhibitors* ; Granulosa Cells ; Polycystic Ovary Syndrome/genetics*

Objective:To explore the relationship between total MRI burden and serum homocysteine (Hcy) in patients with cerebral small vessel disease(CSVD), and to provide clues for disease prevention and treatment.Methods:A total of 370 inpatients with CSVD from the neurology department of hospital were consecutively enrolled from September 2016 to December 2018.The clinical data, including serum homocysteine(Hcy) levels were collected.Brain MRI data were collected, including the severity of white matter hyperintensities(WMH), lacune infarcts(LI), cerebral microbleeds(CMBs), and enlarged perivascular spaces(ePVS) to evaluate the total load of CSVD.SPSS21.0 was applied to analyze the association between total CSVD burden and Hcy.Results:(1)Compared with the patients with lower Hcy levels, the higher Hcy group had heavier total burdens of CSVD( P<0.01). (2)According to the total MRI burden scores of CSVD, all patients were further divided into low burden group(106 cases) and moderate-high burden group(264 cases). Multivariate logistic regression analysis showed that Hcy( OR=1.026, 95% CI: 1.003-1.049, P=0.026) was risk factor for increasing CSVD burden and hyperhomocysteinemia was a stronger predictor for total MRI burdens of CSVD( OR=3.202, 95% CI: 1.947-5.268, P<0.001). Conclusion:Serum Hcy can be an independent risk factor for the total MRI burdens of CSVD.This finding provides a promising clue for the prediction and clinical management of CSVD.

Objective:To investigate the relationship between the enlarged of peripheral vascular space and cognitive function in patients with acute ischemic stroke.Methods:Totally 223 patients with first-episode acute cerebral infarction were selected from the department of neurology in Hebei general hospital from September 2016 to December 2018, who completed the test of cognitive function. All patients were divided into cognitive impairment group( n=67)and normal cognitive group( n=156)according to the score of MoCA.The risk factors of cognitive function and the relationship between the enlargement of perivascular space and cognitive function were analyzed by SPSS 21.0. Results:Age, history of coronary heart disease, Hcy, Fib, BG-EPVS and CSO-EPVS were statistically significant different in cognitive impairment group and normal cognitive group(all P<0.05). Age ( B=0.067, OR=1.070, 95% CI=1.035-1.106, P<0.05), Hcy( B=0.032, OR=1.033, 95% CI=1.007-1.060, P=0.013), and BG-EPVS( B=0.720, OR=2.055, 95% CI=1.041-4.055, P=0.038)were independent risk factors for cognitive impairment.The degree of BG-EPVS in the cognitive impairment group was negatively correlated with the total MoCA score( r=-0.332, P<0.05), visual space and execution( r=-0.256, P<0.01), attention( r=-0.256, P<0.01), language( r=-0.182, P<0.05)and orientation( r=-0.370, P<0.05). Conclusion:EPVS, especially BG-EPVS, can be used as an indicator to evaluate the early cognitive function of AIS patients.

Objective: To analyze the causes and management plan of pediatric spontaneous tonsillar haemorrhage(STH). Methods: According to the criteria of STH difined by Griffies, patients with STH from December 2013 to January 2016 were included in this retrospective study. Results: A total of 11 patients were reviewed. The etiological diagnosis included 3 pediatric Epstein-Barr virus associated infectious mononucleosis(EBV-IM), 3 suspected pediatric EBV-IM to 3 acute suppurative tonsillitis, 1 acute viral tonsillitis and 1 hemophilia A. The management strategies included antiviral, antibacteria, transfusion, surgical examination followed with bipolar coagulation hemostasis under general anesthesia. No patient treated with tosillectomy. Conclusions STH is now a rare condition, the causes of which in child are more or less different from adult.This emergency can be treated in time if a detailed management plan for pediatric STH is formulated.

Objective: To investigate the diagnosis and management of laryngeal cleft. Method: The clinical data of 13 cases of laryngeal cleft treated between 2007 and 2015 was analyzed retrospectively. Results: The children with laryngeal cleft were classified according to the classification of Benjamin-Inglis, as type Ⅰ(11 cases), typeⅡ(1 case) and type Ⅲ(1 case). All patients were confirmed by microlaryngobronchoscopy under general anaesthetic. Eleven typeⅠ and 1 type Ⅱ clefts were managed conservatively, with which all type Ⅰ patients were successfully managed, while the type Ⅱ patient was resolved by surgical endoscopy. The type Ⅲ patient was treated by open repair but the results was poor. Conclusions Patients who suffered with choking on feeding or recurrent aspiration pneumonia, especially coexisted with other congenital malformation, needed detailed evaluation for laryngeal cleft, although which was a rare congenital abnormality. Electronic laryngoscope could be the first step to screen the cleft, while microlaryngobronchoscopy is the gold standard for diagnosis of laryngeal cleft. The majority of children with lower type clefts can be managed conservatively. Surgical endoscopy has high success rate when strictly following the indication. Type Ⅲ and Ⅳ clefts have high mortality for usually combining with severe complications and abnormalities.

Objective To explore the prevalence of polycystic ovary syndrome (PCOS) in nurse of reproductive age and compare the characteristics of four phenotypic subgroups.Methods A cross-sectional survey was carried out in nurses aged 18-45 years in Renji Hospital in 2011.Questionnaire and anthropometric and biochemical assessments were made.Pelvic ultrasound evaluations were made and blood androgen levels were determined.Diagnosis of PCOS was based on Rotterdam 2003 criteria,consisting of anovulation/oligo-ovulation (ANOVU),clinical and/or biochemical hyperandrogenism (HA) and polycystic ovaries (PCO).Results There were 520 participants and finally 486 individuals finished questionnaire and androgen level determination.283 subjects were totally normal,48 suffered from PCO,129 HA,and 89 ANOVU.54 out of 486 women were diagnosed as PCOS,a prevalence of 11.1％.A significant difference exited only in age among four phenotypic subgroups (P＜0.05).There was no statistic difference in other parameters.Conclusion Establishing an explicit definition of each condition in PCOS criteria has important investigational implications and increase the comparability of published researches.Application of Rotterdam criteria is feasible for earlier diagnosis and timely intervention in order to prevent serious complications.