5α-reductase type 2 deficiency is an autosomal recessive disease caused by mutation of SRD5A2 gene.It is one of the major types of 46, XY disorder of sex development.Deficiency of 5α-reductase type 2 will block the conversion of testosterone into dihydrotestosterone, leading to dysplasia of urogenital sinus.It is difficult to be diagnosed due to the diverse clinical phenotypes from incomplete virilization to complete feminization.Children raised as females may show signs of virilization at puberty which brings them gender anxiety and decreased quality of life.This paper reviews the pathogenesis, clinical features, diagnosis, treatment and prognosis of 5 α-reductase type 2 deficiency.

Background: The International Children's Continence Society defines overactive bladder (OAB) as a clinical syndrome characterized by urgency of urination usually accompanied by frequent urination and nocturia symptoms. This study aims to explore the correlation between overactive bladder (OAB) and allergy in children. Method: The clinical characteristics of 918 patients diagnosed with OAB from January 2020 to March 2021 were retrospectively analyzed. Risk factors for OAB were analyzed using logistic regression analysis, and the effect of desloratadine in the treatment of OAB was evaluated. Results: The incidence of allergic cough or allergic rhinitis in the mild OAB group was higher than the moderate–severe group. Urodynamics demonstrated that the proportion of patients with a sensitive bladder in the overactive detrusor group was significantly higher than the non-overactive detrusor group. The effective rate of treatment of OAB in patients complicated with allergies and taking desloratadine was 90.14%, which was significantly higher than in patients who were not taking desloratadine, and blood IgE level was a risk factor of ineffective treatment with desloratadine. Conclusion: OAB is correlated with allergies in children, and desloratadine can effectively improve OAB symptoms.

Objective: The present study aimed to analyze the risk factors correlated with overactive bladder (OAB), observe the effects of desloratadine in the treatment of OAB, and explore the correlation between OAB and atopic constitution in children.Methods: Correlation and binary logistic regression analysis of the medical data from 447 children clinically diagnosed with OAB from June 2019 to June 2020 were conducted. The data included a history of urticaria, eczema, itchy skin, and allergic rhinitis or allergic cough. The OABSS scores before and after treatment with desloratadine were compared to evaluate the effectiveness of desloratadine for OAB.Results: The risk factors for OAB in children included eczema, allergic rhinitis or allergic cough, itchy skin, and the levels of total blood IgE. Desloratadine was 96.5% effective in treating cases with risk factors including eczema, allergic rhinitis or allergic cough, and itchy skin. There existed statistical significance in the difference in OABSS scores before and after the treatment of desloratadine (P < 0.05).Conclusion: OAB in children was correlated with atopic manifestations such as eczema, itchy skin, allergic rhinitis, or allergic cough. Desloratadine was safe and effective in the treatment of OAB in children with atopic manifestations.

Objective To explore the application of urodynamics in the diagnosis and treatment of nonmonosymp-tomatic nocturnal enuresis(NMNE)in children,and to provide some evidence for its clinical treatment. Methods Patients who were clinically diagnosed as NMNE at Department of Pediatrics Kidney Rheumatism and Pediatric Urology of Shengjing Hospital of China Medical University from January 2015 to August 2016 were collected. Sixty - six children with NMNE were included in the urodynamic study,and the different treatments were selected according to the results of the urodynamics and the efficacy was evaluated. Results The urodynamic results of 61 patients(92. 43％)were abnor-mal,and 5 cases(7. 57％)had no abnormalities. There were 35 cases with overactive bladder(OAB)in abnormal re-sults,with a remarkable decrease in bladder pressure capacity in 7 cases,detrusorsphincter discoordination(DSD)in 1 case,and OAB with other abnormal results in 18 cases. OAB was found in 53 cases,and the detection rate was 86. 89％(53 / 61 cases),accounting for 80. 3％(53 / 66 cases)of the total samples. The desmopressin acetate combined with Tolterodine tartrate was used to treat OAB patients,and its total effective rate was 94. 34％(50 / 53 cases). The biofeed-back treatment had effect on DSD child. The patients with a marked decrease in bladder pressure capacity and with the normal urodynamics received desmopressin acetate joint behavior training treatment,and the efficiency of the therapy was 71. 43％(5 / 7 cases)and 80. 00％(4 / 5 cases),respectively. Conclusions The urodynamics study can uncover the pathophysiological mechanism of NMNE,so this examination is essential for NMNE children to improve the treat-ment. Since the rate of OAB in NMNE is very high,it is suggested that anticholinergic medications combined with desmopressin can be used in the initial treatment of the NMNE patients to improve the rate of cure and prognosis.

Icariin is the main active ingredient found in the traditional Chinese medicinal plant Epimedium, and exhibits various pharmacological effects such as enhanced immune function, anticancer activity, improved cardiovascular function and endocrine adjustment. However, the effect of icariin on ovarian cancer and the related mechanism have never been investigated. In the present study, we aimed to verify whether icariin inhibits the proliferation and increases the apoptosis of human ovarian cancer cells, and its molecular mechanism in order to establish an association and identify potential therapeutic targets. In the present study, ovarian cancer A2780 cells were treated with various concentrations of icariin, and the cell viability was evaluated by 3,3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay. Flow cytometry and caspase-3 colorimetric assay were performed to observe apoptotic changes in the A2780 cells. qPCR analysis was used to analyze miR-21 expression in the A2780 cells. Western blot analysis was used to assess PTEN, RECK and Bcl-2 protein expression. Transfection of microRNA-21 (miR-21) and anti-miR-21 was used to investigate expression of its target genes associated with cell proliferation and apoptosis. Icariin concomitantly suppressed cell proliferation, accelerated apoptosis and increased caspase-3 activity in the A2780 cells. In the ovarian cancer A2780 cells, icariin substantially decreased the miR-21 expression level, increased PTEN and RECK protein expression levels and decreased the Bcl-2 protein expression level. Notably, miR-21 regulated the potential anticancer effects of icariin on cell proliferation and apoptosis by targeting PTEN, RECK and Bcl-2 in the ovarian cancer A2780 cells. Our results demonstrated that icariin is an excellent candidate antitumor agent which exhibits an anticancer curative effect on ovarian cancer cells. miR-21 and its target genes may play a vital role in the molecular mechanism of the anticancer effects of icariin.

尿动力学是目前普遍认可的评估排尿功能的重要方法,是诊断和评价下尿路功能的黄金标准.但由于受技术条件和认知度等多方面因素影响,尿动力学在儿童中的应用尚不理想.本文对儿童尿流动力学检查的主要参数及临床应用做一简要介绍.

Objectives: To compare the subsequent fertility and risk of recurrence of an ectopic pregnancy (EP) in women who had had an EP, according to the type of surgical treatment they received-that is, salpingectomy, salpingostomy or tubal anastomosis.Methods: A retrospective cohort study was carried out between January 2003 and September 2011 of 618 patients admitted to hospital with tubal EP and who had received surgical treatment (salpingectomy, n=434; salpingostomy, n=112; and tube anastomosis, n=72). Main outcomes included the first intrauterine pregnancy (IUP) and recurrent EP.Results: The crude IUP rates up to 24 months after surgery were 55.5% for salpingectomy, 50.9% for salpingostomy and 40.3% for tubal anastomosis treatments. In the multivariate-adjusted model, with the patients receiving salpingectomy as the reference group, HR for patients after salpingostomy and tubal anastomosis treatments for IUP were 0.912 (95% CI 0.762 to 2.017) and 0.619 (95% CI 0.328 to 0.927), respectively. The 2-year cumulative recurrent EP rates were found to be 8.1% for salpingectomy, 6.3% for salpingostomy and 16.7% for tubal anastomosis treatments. Taking the patients receiving salpingectomy as the reference group, the patients who received tubal anastomosis had a positively higher risk of recurrent EP (HR=2.280; 95% CI 1.121 to 4.636) in univariate analysis. Adjustment for other potential confounders only slightly attenuated the HR.Conclusions: The patients with an EP receiving tubal anastomosis treatments appeared to have a lower 2-year rate of IUP and a higher risk of recurrent EP after adjustment for other potential risk factors.

Oxymatrine, an alkaloid extracted from medicinal plants of the genus Sophora, has a wide range of pharmacological effects. Previous studies have revealed that oxymatrine can inhibit proliferation and metastasis of tumor cells through reducing matrix metalloproteinase‑2 (MMP‑2) mRNA expression. However, the expression of MMP‑2 in ovarian cancer is significantly higher than that in normal ovaries. Furthermore, the expression of microRNA‑29b (miR‑29b) in ovarian carcinoma is significantly lower than that in normal ovaries. Therefore, MMP‑2 and miR‑29b are tumor suppressor factors involved in ovarian cancer. To evaluate the anti-cancer effects of oxymatrine the OVCAR‑3 ovary cancer cell line was treated with oxymatrine at the concentrations of 0, 0.5, 1 and 2 mg/ml. Assessment of the proliferation and apoptosis of OVCAR‑3 cells showed that oxymatrine had an inhibitory effect on ovarian cancer cells. Furthermore, oxymatrine decreased the protein levels of MMP‑2 and increased the expression levels of miR‑29b in OVCAR‑3 cells. Through transfection of miR‑29b precursor into OVCAR‑3 cells, it was demonstrated that miR‑29b regulated MMP‑2 expression in OVCAR‑3 cells. In addition, anti‑miR‑29b antibodies were used to verify that the apoptotic effect of oxymatrine was due to upregulating miR‑29b and downregulating MMP‑2 expression. These results showed that oxymatrine suppresses the proliferation and facilitates apoptosis of human ovarian cancer cells through upregulating miR‑29b and downregulating MMP‑2 expression.

Hirschsprung's disease (HSCR) is the third most common congenital disorder of the gastrointestinal tract. It is an anomalous enteric nervous system (ENS) characterized by the absence of ganglion cells in the myenteric and submucosal plexuses. It has been reported that the Smad-interacting protein 1(SIP1) is critical in embryonic development of ENS for its regulation on neural crest cells. In the present study, we analyzed 3 polymorphisms of the SIP1 gene rs41292293 (exon5), rs34961586 (exon6) and rs13017697 (exon8) to determine their potential contributions to the susceptibility of HSCR. Allele frequencies and genotype distributions were analyzed by sequence analysis in 107 HSCR patients and 107 normal controls. The SIP1 expression was carried out by using real-time PCR, western blot and immunohistochemistry. Polymorphic analysis indicated that the genotype distributions and allele frequencies in SIP1 gene rs41292293, rs34961586 and rs13017697 were statistically different between HSCR and normal controls. The expression analysis revealed that SIP1 was ectopically expressed in the aganglionic segments; neither the mRNA nor the protein levels demonstrated that the difference compared with those was in the normal segments. In conclusion, the single nucleotide polymorphisms in SIP1 gene rs41292293, rs34961586 and rs13017697 are associated with the ectopic expression of this gene in human HSCR and contribute to the susceptibility of this disease in population.

BACKGROUND:Hirschsprung disease (HSCR) is the third most common congenital disorder of the gastrointestinal tract. This study aims to elucidate changes in protein expression between the normal and aganglionic hindgut in human HSCR.METHODS:The biopsies were obtained from the normal and aganglionic hindgut in human HSCR, and the comparative proteomics were analyzed by mass spectrometry (MS)-based two-dimensional gel electrophoresis (2DE).RESULTS:A total of 932-986 protein spots were identified in each of the gut segments, among which 30 spots had at least an eightfold difference in volume (%). Of the 30 differentially expressed spots, 15 proteins were identified via sequence analysis. Among these 15 proteins, eight were upregulated and seven were downregulated in the aganglionic group. The well-represented classes included biomarkers of enteric ganglions, extracellular matrix proteins, LIM domain proteins, serum proteins, and other pleiotropic proteins. Five proteins were selected and verified by western blotting and real-time PCR, and the results were consistent with the results of 2DE.CONCLUSION:MS-based 2DE can help to identify pathological relevant proteins in HSCR; it defines an extensive protein catalog of the normal and aganglionic hindgut and may constitute the basis to understand pathophysiological mechanisms related to the HSCR.

Objective To explore the urodynamic characteristics of spina bifida occulta (SBO) children with urinal dysfunction.Methods A total of 113 patients with urinal dysfunction,48 with SBO diagnosed radiologically and 65 negative controls were recruited.The major symptoms were incontinence,increased voiding frequency and dysuria and nocturnal enuresis.Uroflowmetry was conducted for all cases.And 112 of them received invasive urodynamic examinations for analyzing the correlation between main items of urodynamics and symptoms.Results Most (46/48) of them had various abnormalities on urodynamic test.There were detrusor instability (DI,n =22),detrusor underactivity (n =21),decreased maximum flow rate (n =18,Qmax),decreased bladder capacity (n =15),increased post-void residual urine (n =12,PVR),decreased bladder compliance (BC,n =7),detrusor-external sphincter dyssynergia (n=4) and decreased urethral pressure (n=4).DI,detrusor underactivity,increased PVR and decreased bladder compliance were more often present in patients with SBO.According to the symptoms,correlation existed between incontinence and decreased Qmax and detrusor underactivity; increased voiding frequency and increased PVR; dysuria and detrusor underactivity; nocturnal enuresis and DI.Conclusions SBO children with urinal dysfunction may have various urodynamic changes.And the same clinical manifestation may have different abnormalities.And the symptoms are probably correlated with urodynamic changes.

Background: Constipation is one of the most common chronic digestive complaints. Gastrointestinal transit studies have divided it into three patterns: normal transit, slow transit constipation (STC), and outlet obstruction. It has been demonstrated that STC patients respond poorly to standard therapies, and the etiology of STC remains poorly understood. Animal studies have also shown that fatty acid amide hydrolase (FAAH) controls intestinal motility through its putative receptors or non-receptor-mediated pathways. However, the role of FAAH in STC has not been elaborated.Methods: A case series was carried out on thirty-two STC patients fulfilling the Rome II criteria and on 24 controls. All of the subjects underwent a laparotomy in Shengjing Hospital. Colonic specimens were obtained and used for FAAH expression analysis, enzyme activity assay, and cannabinoid detection.Results: FAAH immunoreactivity occurred in the enteric neurons and in the surface epithelial and glands. The expression level and enzyme activity of FAAH in the STC group were both significantly lower than those in the control group (P < 0.05). The amounts of anandamide, 2-arachidonylglycerol, and palmitoylethanolamide, which are negatively correlated with enzyme activity, were significantly higher in the constipation group than that in the control group. In the STC group, cannabinoid receptor type 1 immunoreactivity occurred predominantly in the submucosal and myenteric fibers that were obviously strong and wave-like in their appearance. Enteric ganglions decreased or disappeared.Conclusions: The tone of the enteric cannabinoids system is disturbed in STC, and the decreased enteric FAAH activity contributes to colonic inertia in STC.

Neuroblastoma (NB) is the most common extracranial solid tumor in children. In this study, we investigated the potential antitumor capability of the engineered Edmonston strain of the carcinoembryonic antigen-expressing measles virus (MV-CEA) against human NB. The infection of a variety of NB cell lines, including SK-N-SH, SMS-KCNR, and primary NB cells, resulted in significant cytopathic effects. None of the NB cell lines showed an overexpression of the measles virus receptor CD46 and nectin 4, but the cell lines did support robust viral replication. The efficacy of this approach was examined in murine SK-N-SH xenograft models. Flow cytometry and TUNEL assays indicated an apoptotic mechanism of cell death. In summary, MV-CEA has potent therapeutic efficacy against NB mediated by a CD46- and nectin 4-independent pathway.

Hepatoblastoma (HB) is the most common primary, malignant pediatric liver tumor in children. The treatment results for affected children have markedly improved in recent decades. However, the prognosis for high-risk patients who have extrahepatic extensions, invasion of the large hepatic veins, distant metastases and very high alpha-fetoprotein (AFP) serum levels remains poor. There is an urgent need for the development of novel therapeutic approaches.