Endometriosis is a common estrogen-dependent disease in women of childbearing age,often leading to chronic pelvic pain,infertility,ovarian cancer,and other serious complications,and jeopardizing the health of women.The pathogenesis of endometriosis is complex and involves the alteration of multiple signaling pathways mediated by hormones,immunity,genetics,and the environment,and their interactions.Wnt/β-catenin signaling is involved in the regulation of embryonic development and tissue homeostasis,and it has recently been implicated in the pathogenesis of endometriosis via multiple pathways.This review considers the biological characteristics of the Wnt/β-catenin signaling pathway and summarizes the main mechanisms and signaling pathways involved in the pathogenesis of endometriosis,as well as the curr-ent research status of the regulation of this signaling pathway by traditional Chinese medicine for the treatment of endometriosis.We aim to clarify how the Wnt/β-catenin signaling pathway affects the development of endometriosis,and suggest that future studies should focus on exploring its potential role as an indicator for the clinical prediction and early diagnosis of endometriosis,thus providing theoretical support for the early diagnosis of this condition and the development of targeted drugs.

Endometriosis is a common estrogen-dependent disease in women of childbearing age,often leading to chronic pelvic pain,infertility,ovarian cancer,and other serious complications,and jeopardizing the health of women.The pathogenesis of endometriosis is complex and involves the alteration of multiple signaling pathways mediated by hormones,immunity,genetics,and the environment,and their interactions.Wnt/β-catenin signaling is involved in the regulation of embryonic development and tissue homeostasis,and it has recently been implicated in the pathogenesis of endometriosis via multiple pathways.This review considers the biological characteristics of the Wnt/β-catenin signaling pathway and summarizes the main mechanisms and signaling pathways involved in the pathogenesis of endometriosis,as well as the curr-ent research status of the regulation of this signaling pathway by traditional Chinese medicine for the treatment of endometriosis.We aim to clarify how the Wnt/β-catenin signaling pathway affects the development of endometriosis,and suggest that future studies should focus on exploring its potential role as an indicator for the clinical prediction and early diagnosis of endometriosis,thus providing theoretical support for the early diagnosis of this condition and the development of targeted drugs.

As an important immunomodulator, vitamin D is involved in the expression, proliferation and apoptosis of immune cells through binding with the vitamin D receptor of immune cells, so as to play an immunomodulatory role, which is related to chronic inflammatory diseases and autoimmune diseases. Recent studies have found that endometrial cells also express vitamin D receptors, and the expression level of relevant immune factors in endometriosis patients are correlated with vitamin D levels. Therefore, this article will review the research progress on the regulation of vitamin D levels on the immunological pathogenesis of endometriosis.

As an important immunomodulator, vitamin D is involved in the expression, proliferation and apoptosis of immune cells through binding with the vitamin D receptor of immune cells, so as to play an immunomodulatory role, which is related to chronic inflammatory diseases and autoimmune diseases. Recent studies have found that endometrial cells also express vitamin D receptors, and the expression level of relevant immune factors in endometriosis patients are correlated with vitamin D levels. Therefore, this article will review the research progress on the regulation of vitamin D levels on the immunological pathogenesis of endometriosis.

Objective:To examine the plasma expression levels and clinical significances of microRNA(miR)-101-3p and miR-141-3p in children with sepsis.Methods:One hundred and fifty-three children with sepsis admitted in Sanya People′s Hospital from January 2016 to October 2019 were divided into sepsis without shock group (94 cases) and septic shock group (59 cases). In addition, they were further divided into survival group (107 cases) and death group (46 cases) according to the 28-day survival.Another 60 healthy children were selected as the healthy control group.Real-time fluorescence quantitative polymerase chain reaction (RT-PCR) was performed to detect plasma levels of miR-101-3p and miR-141-3p in all subjects.Receiver operating characteristic curve(ROC) were depicted to identify the diagnostic and prognostic potentials of plasma miR-101-3p, miR-141-3p and procalcitonin(PCT) in sepsis. Pearson′ s correlation analysis was performed to analyze the correlation between the expression levels of miR-101-3p, miR-141-3p and PCT with Acute Physiology and Chronic Health Evaluation Ⅱ(APACHE Ⅱ)score, Sequential Organ Failure Assessment(SOFA)score, leukocyte count and C-reactive protein level in children with sepsis. Results:Plasma levels of miR-101-3p, miR-141-3p and PCT in septic shock group and sepsis without shock group were significantly higher than those in the healthy control group (all P<0.001). Moreover, plasma levels of miR-101-3p (4.25±1.46 vs.1.86±0.75), miR-141-3p (3.17±1.08 vs.1.20±0.52) and PCT [(20.75±9.36) μg/L vs.(5.80±2.40) μg/L] in septic shock group were significantly higher than those in sepsis without shock group (all P<0.001). In addition, plasma levels of miR-101-3p, miR-141-3p and PCT in survival group and death group were significantly higher than those in the healthy control group (all P<0.001). Notably, plasma levels of miR-101-3p (4.83±1.62 vs.1.40±0.58), miR-141-3p (3.50±1.13 vs.0.96±0.47), and PCT [(26.30±11.72) μg/L vs.(3.25±2.16) μg/L] in death group were significantly higher than those in the survival group (all P<0.001). ROC curve analysis showed that the area under the curve (AUC) and 95% confidence interval (95% CI) of the combined diagnosis of sepsis with miR-101-3p, miR-141-3p and PCT were significantly higher than that of miR-101-3p, miR-141-3p or PCT alone [0.908 (0.850-0.970) vs.0.810 (0.748-0.873), 0.784 (0.723-0.844) and 0.825 (0.764-0.883), respectively; Z1=4.682, Z2=5.380 and Z3=4.417, all P<0.05]. The sensitivity and specificity of the combined diagnosis was 92.5% and 84.0%, respectively.The AUC and 95% CI of the combined prediction of miR-101-3p, miR-141-3p and PCT in the mortality of children with sepsis children with were significantly higher than those with miR-101-3p, miR-141-3p or PCT alone [0.930 (0.872-0.986) vs.0.848 (0.786-0.907), 0.792 (0.730-0.853) and 0.820 (0.762-0.878), respectively; Z1=4.537, Z2=5.728 and Z3=5.106, all P<0.05]. The sensitivity and specificity of the combined prediction in the mortality was 94.6%, and 87.0%, respectively.Correlation analysis showed that miR-101-3p and miR-141-3p levels were positively correlated with PCT ( r=0.804, 0.773, all P<0.001), APACHE Ⅱ score ( r=0.738, 0.695, P<0.001) and SOFA score ( r=0.752, 0.764, all P<0.001). Conclusions:Plasma levels of miR-101-3p and miR-141-3p in children with sepsis significantly increased, which are correlated with the severity of sepsis.A combination detection of miR-101-3p, miR-141-3p and PCT has high diagnostic and prognostic potentials in children with sepsis.

Objective To explore the clinical features and expression of PLA2R in renal tissue of children with idiopathic membranous nephropathy.Methods Retrospective study was performed in patients with membranous nephropathy diagnosed through renal biopsy and the follow-up time was at least half a year in Shanghai Children's Hospital from January 2010 to February 2017.We compared their clinicopathological and pathological findings of IMN.Indirect immunofluorescence assay was used to detect glomerular PLA2R expression.We analyzed the differences of clinical features between the PLA2R negative and positive groups.T test,rank-sum test and Fisher exact test were used.Results Eleven cases had hematuria and proteinuria,9 cases presented with nephrotic syndrome,and 2 cases showed isolated proteinuria.Of the 22 cases of children with IMN,16 patients had complete remission (complete remission rate was 72.8％),and 22 patients had partial remission.The renal functiou of all cases was normal and in all cases the estimated glomerular filtration rate was ＞ 90 ml/(min· 1.73m2).Of 22 cases with IMN,7 cases were PLA2R-positive in renal tissue and 15 cases were PLA2R-negative.The age of positive group(10 years old) was older than the negative group (6 years old)(Z=-2.483,P＜0.05) and the time of positive group (6 months) for urine protein to return to negative was longer than the negative group (2.5 months) through treatment.These differences were significantly different (Z=-2.072,P＜0.05).Conclusions Hematuria and proteinuria can be found in most children with idiopathic primary membranous nephropathy.Prednisone combined with immunosuppressant was effective.The positive rate of PLA2R in renal tissue of children with IMN was about 32％.The age of PLA2.R positive group was older than the negative group.And the time of urine protein turning to negative in positive group was longer than that in the negative group.

Next generation sequencing (NGS) has developed very rapidly in the last decade. Compared with Sanger sequencing, NGS has the advantages of high sensitivity and high throughput. Movement disorders are a common type of neurological disease. Although traditional linkage analysis has become a standard method to identify the pathogenic genes in diseases, it is getting difficult to find new pathogenic genes in rare Mendelian disorders, such as movement disorders, due to a lack of appropriate families with high penetrance or enough affected individuals. Thus, NGS is an ideal approach to identify the causal alleles for inherited disorders. NGS is used to identify genes in several diseases and new mutant sites in Mendelian movement disorders. This article reviewed the recent progress in NGS and the use of NGS in Mendelian movement disorders from genome sequencing and transcriptome sequencing. A perspective on how NGS could be employed in rare Mendelian disorders is also provided.
Alleles ; Genetic Linkage ; High-Throughput Nucleotide Sequencing ; methods ; Humans ; Movement Disorders ; diagnosis ; genetics ; Sequence Analysis, DNA ; Transcriptome

OBJECTIVETo analyze the clinical features and gene mutation of Chinese children with Alport syndrome(AS).

METHODFrom May 2011 to May 2014, clinical and pathological information gathered from 25 patients was retrospectively analyzed. COL4A5, COL4A4 and COL4A3 genes were analyzed using next-generation sequencing in these patients, and gene mutations of related family members were identified by Sanger method.

RESULTOf these 25 cases, 19(76%) had X-linked Alport syndromes (XL-AS), 6 had autosomal recessive Alport syndromes (AR-AS). Twenty five patients had an onset of hematuria and proteinuria and in 8 cases the disease was induced by upper respiratory tract infections. Hearing loss was present in 2 of 25 (8%) cases and ocular lesions in 1 of 25 (4%). Renal pathology showed that 16 of them had minimal change disease (MCD), 8 mesangial proliferative glomerulonephritis (MsPNG), 1 focal segmental glomerulo-sclerosis (FSGS). Extensive lamination and split of glomerular basement membrane (GBM) dense layers were found in 2 (8%) of 25 patients. Twenty one of 25 patients (84%) showed abnormal renal α-chain distribution. COL4A5, COL4A4 and COL4A3 genes of 25 patients (23 families) were analyzed and 24 pathogenic mutations were identified: 18 in COL4A5, 1 in COL4A3 and 5 in COL4A4. It was observed that 13 patients inherited the mutation from the mother, 3 patients inherited from the father, 2 patients inherited 1 mutation from the mother and another mutation from the father, and 7 patients carried the novel mutations.

CONCLUSIONXL is the main inherited type in AS. Most of patients showed MCD and MsPNG in renal biopsy. This research examined 24 mutations and 16 mutations were not reported previously.

Child ; Deafness ; Genes, Recessive ; Genotype ; Hematuria ; Humans ; Kidney ; Mutation ; Nephritis, Hereditary ; genetics ; pathology ; Pedigree ; Phenotype

Objective To promote the diagnostic accuracy of intrapancreatic accessory spleen (IPAS).Methods The clinical data of 10 cases of IPAS admitted in Fudan University Zhongshan Hospital from Apr 2005 to Dec 2013 were retrospectively analyzed.Results There were ten cases of IPAS confirmed pathologically.Only 1 of the ten cases was diagnosed correctly and definitely with IPAS preoperatively.The other 9 cases were misdiagnosed with benign or malignant pancreatic tumors,including nonfunctional neuroendocrine neoplasms in 5 cases,pancreatic neuroendocrine cancers in 3 and pancreatic intraductal adenocarcinoma in one.All the nine misdiagnosed patients has no specific symptoms or laboratory indexes.All the IPASs located in the tail of the pancreas with the mean diameter (1.3 ±0.2) cm(0.8-2.5 cm).7 cases of IPAS show strikingly similar dynamic enhancement to the spleen on the CT scans and/or MRI.Accessory spleen around the splenic hilum was found in five cases.Conclusions Morphological study plays an important role in the diagnosis and IPAS carries parallel dynamic enhancement to the spleen on CT scans and/or MRI.IPAS should be considered as a differential diagnosis while the lesion is no more than 2.5 cm in diameter and when other accessory spleens were shown around the splenic hilum.

Objective To investigate the effects of different concentrations of sevoflurane on adhesion and expression of CD 44 in human breast cancer cell line MCF‐7 .Methods The cells were randomly divided into 4 groups :control group and 3 sevoflurane groups exposed to 1 .7% ,3 .4% and 5 .1% sevollurane for 2 ,4 and 6 h respectively .Cell adhesion rate was detected by adhesion test and the expression of CD44 mRNA and protein was determined by qRT‐PCR .Results in Treat 1 ,2 ,3 ,the adhesion rate at 2 ,4 ,6 h were lower than that before treat ,mRNA expression of CD44 reduced (P<0 .05);the adhesion rate of Treat 2 and Treat 3 at 4 and 6 h were lower than that of 2 h ,and the mRNA expression of CD44 reduced (P<0 .05);the adhesion rate of Treat 2 and Treat 3 at 6 h were lower than that of 4 h ,and the mRNA expression of CD44 reduced (P<0 .05);compared with Control group ,the adhesion rate of Treat 1 ,2 and 3 at 2 ,4 ,6 h were all lower ,mRNA expression of CD44 reduced (P<0 .05);the differences between each group were statisyicaly significant(P<0 .05) .Conclusion Sevoflurane can inhibit cell adhesion in a concentration and duration of exposure dependent manner ,and its mechanism could be related with the down regulation of CD44 expression .