The intestinal flora and gut barrier function are of great significance for gut function and human health. When the intestinal flora is disrupted and the gut barrier structure is disrupted, it can lead to bacterial translocation, endotoxin influx into the bloodstream, and the production of pro-inflammatory factors, leading to various tissue damage in the body. Tongfu method in TCM can affect the intestinal environment by regulating intestinal permeability and immune response, restoring normal intestinal movement, and regulating the structure and metabolites of intestinal flora, thereby maintaining intestinal homeostasis and body health. The research on regulating intestinal flora and improving intestinal barrier function by Tongfu method can provide reference for further research on the relationship between TCM and intestinal microecology, and provide ideas for clinical treatment.

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with multiple pterygium syndrome (MPS). METHODS: A child with MPS who was treated at the Orthopedics Department of Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University on August 19, 2020 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were also collected. Whole exome sequencing (WES) was carried out for the child. Candidate variant was validated by Sanger sequencing of her parents and bioinformatic analysis. RESULTS: The child, an 11-year-old female, had a complain of "scoliosis found 8 years before and aggravated with unequal shoulder height for 1 year". WES results revealed that she has carried a homozygous c.55+1G>C splice variant of the CHRNG gene, for which both of her parents were heterozygous carriers. By bioinformatic analysis, the c.55+1G>C variant has not been recorded by the CNKI, Wanfang data knowledge service platform and HGMG databases. Analysis with Multain online software suggested that the amino acid encoded by this site is highly conserved among various species. As predicted with the CRYP-SKIP online software, the probability of activation and skipping of the potential splice site in exon 1 caused by this variant is 0.30 and 0.70, respectively. The child was diagnosed with MPS. CONCLUSION The CHRNG gene c.55+1G>C variant probably underlay the MPS in this patient.
Humans ; Child ; Female ; Abnormalities, Multiple/genetics* ; Malignant Hyperthermia/genetics* ; Skin Abnormalities/genetics* ; Heterozygote ; Mutation ; Receptors, Nicotinic/genetics*

Objective To observe the difference in the expression of micro-ribonucleic acid(miRNA)in the colon tissue of irritable bowel syndrome-diarrhea(IBS-D)rats and rats treated with Jianpi Mixture,and predict The miRNA and corresponding genes involved in the treatment of IBS-D with Jianpi Mixture,providing a basis for finding potential therapeutic targets for IBS-D.Methods The rats were randomly divided into a blank group,a model group and a traditional Chinese medicine group,with 8 rats in each group.Both the model group and the Chinese medicine group used acute and chronic stimulation + senna leaf gavage to make the IBS-D model.The Chinese medicine group was gavaged with Jianpi Mixture after model building for 14 days.General condition,body weight and Bristol score were observed and recorded.Hematoxylin-eosin(HE)staining was used to observe the histopathological changes of colon in each group of rats.Transcriptome sequencing of rat colon tissue in each group to screen and map differentially expressed miRNAs.Perform GO(Gene oncology)functional enrichment analysis and KEGG(Kyoto Encyclopedia of Genes and Genomes)pathway enrichment analysis on the target genes corresponding to the screened common miRNAs.Results Compared with the model group,the weight of the rats in the Chinese medicine group increased significantly(P<0.01),and the Bristol score of the feces decreased significantly(P<0.01).The pathological damage of the colon tissue of rats in the Chinese medicine group was significantly reduced.Compared with the blank group,there were 109 differentially expressed genes in the model group,of which 80 were up-regulated and 29 were down-regulated.Compared with the model group,there were 109 differentially expressed genes in the traditional Chinese medicine group,of which 19 were up-regulated and 90 were down-regulated.Mapping the genes of the two comparisons found that 74 miRNAs in the model group were increased and 7 were decreased.The changes of these miRNAs were all reversed after the intervention of traditional Chinese medicine.The GO function enrichment analysis of target genes showed that Jianpi Mixture was mainly involved in synaptic vesicle positioning and transport,cytoplasmic transport,negative regulation of growth and development,and sugar transport after acting on rats.KEGG pathway enrichment analysis showed that MAPK,Wnt,Hippo,TNF,oxygen toxin,cAMP and other pathways were enriched.Conclusion After the intervention of Jianpi Mixture,IBS-D-related miRNA expression profiles have changed significantly;Jianpi Mixture may play a protective role in the treatment of IBS-D by regulating the MAPK signaling pathway and Wnt signaling pathway.Screening the core genes and predicting the miRNAs interacting with them provide a theoretical basis for the study of the pathogenesis of IBS-D and the therapeutic targets of Jianpi Mixture.

Objective : To study the best machine learning method for early prediction of hematoma expansion in hypertensive intracerebral hemorrhage based on head CT plain scan. Methods : The CT images of 130 patients with cerebral hemorrhage were retrospectively analyzed , and the texture features of the head CT plain scan were extracted. The classifier was trained by selecting the features , and the six classic machine learning methods were crossvalidated to evaluate the stability and performanceof predicting cerebral hemorrhage hematoma expansion. Results: The prediction performance of support vector machine (SVM⁃Radial) (AUC 0. 714 ± 0. 144 , accuracy 0. 723 ± 0. 109) , generalized linear model ( GLM) prediction performance ( AUC 0. 643 ± 0. 125 , accuracy 0. 587 ± 0. 136) , random forest (RF) prediction performance (AUC 0. 686 ± 0. 128 , accuracy 0. 680 ± 0. 130) , k ⁃nearest neighbor (kNN) prediction performance ( AUC 0. 657 ± 7C 15 , accuracy 0. 639 ± 39 performance 19) , gradient boosting tree algorithm (GBM) Prediction performance ( AUC 0. 718 ± 0. 141 , accuracy 0. 670 ± 0. 126) , neural network (NNet) prediction performance (AUC 0. 659 ± 0. 162 , accuracy 0. 680 ± 0. 130) , in which support vector machines showed high prediction performance , generalized linear model showed low predictive performance. Conclusion Among the six machine learning methods based on cranial CT radiomics to predict early hematoma expansion in hypertensive intracerebral hemorrhage , support vector machine (SVM⁃Radial) has the best predictive performance and has potential clinical application value.

Objective To explore the clinical features, treatment and follow-up of Cockayne syndrome with renal involvement. Method The clinical data of one child with Cockayne syndrome confirmed by gene detection with renal injury were reviewed, and the clinical features of renal involvement in Cockayne syndrome were summarized. Results A male child aged 3 years and 8 months had clinical manifestations of mental retardation, growth retardation, special face and photosensitive dermatitis, and renal involvement was manifested by nephrotic syndrome. Cranial CT showed symmetrically calcification in bilateral basal ganglia. The targeted next generation sequencing results showed homozygous mutations of c.394_398del and p.Leu132Asnfs in ERCC8 gene (NM_000082) of the child, and the same heterozygous mutation was found in both his parents (non-consanguineous marriage). After the diagnosis of nephrotic syndrome, full dose prednisone was given for experimental treatment. The urine protein decreased but did not disappear, which was considered hormone resistance. After 4 months of combined treatment with cyclosporin, the urine protein turned negative. During 20 months of follow-up, urine protein remained negative and renal function remained stable. The renal involvement in Cockayne syndrome was seldomly reported, and its clinical manifestations are heterogeneous. Condusion Renal involvement in Cockayne syndrome may be manifested with nephrotic syndrome which should be noticed.

Based on the review of existed references,research methods and experiences of ethnographic studies of Chinese medicine in the UK,this article proposed several suggestions on the social scientific studies of Chinese medicine abroad under the background of the "Belt and Road":studies should be more pragmatic in order to take the role of think tank;multi-discipline studies are encouraged to take the advantages of professional subjects;multi-cultures should be respected and local conditions should be taken into consideration to achieve conversational communication and all-win interest consortium;qualitative research should be more emphasized to present more ethnographic work for analytical studies;historical studies should be paid attention to in order to get dynamic trends.

Objective: Hepatocyte nuclear factor 1 homeobox b (HNF1B) -associated disease is an autosomal dominant inherited disorder with a variable, multi-systemic phenotype. In China, five adult probands and one child proband with HNF1B-associated disease had been reported, whereas few fetuses are described. The aims of this retrospective study were to understand about the clinical manifestations of HNF1B-associated disease and to further improve the recognition of this disorder. Method: Four patients (3 males, 1 female) and three fetuses with HNF1B mutations were included in this study. They were admitted to our hospital from January 2013 to March 2017. HNF1B mutations were detected using targeted next generation sequencing and quantitative real-time PCR or Sanger sequencing. HNF1B heterozygous deletion of exons 1-9 was found in 4 patients and 2 fetuses, and HNF1B heterozygous missense mutation in 1 fetus. These two mutations had been reported. Two patients and 1 fetus had de novo mutations. Results of renal ultrasonography with or without magnetic resonance imaging, biochemical investigations, urine routine examination and other necessary investigations in 7 cases were analyzed. Result: Three patients were Han Chinese ethnicity, and one patient was Mongolian. In patients 1 and 4, abnormal fetal kidneys were discovered by routine ultrasonography, and the age at first feature identified in Patients 2 and 3 were 13 years and 28 years. Patient 3 had normal renal function and the remainder had reduced glomerular filtration rate. In addition, patient 4 presented with nephrotic syndrome and glycosuria, patient 2 with early onset hyperparathyroidism and renal osteodystrophy, and patient 3 with diabetes mellitus. All the 4 patients had renal structural abnormalities including bilateral multiple renal cysts, dysplasia and hyperechogenic kidneys. Only patient 3 had a positive family history of renal diseases, the remainder had a negative family history of renal diseases. In 3 fetuses, prenatal ultrasound anomalies were detected during the second trimester. These 3 fetuses had hyperechogenic kidneys with or without renal cysts. Polyhydramnios was detected in only one of the 3 fetuses. Two of the 3 fetuses had a positive family history of renal diseases. Conclusion Clinical phenotypes of HNF1B-related disease are heterogeneous, renal malformations clearly appear to be the most common manifestation, multiple renal cysts are characteristic, and patients can progress to impaired kidney function during childhood; HNF1B mutation is a differential diagnosis of fetal hyperechogenic kidneys or multiple renal cysts.

OBJECTIVETo analyze the clinical and genetic features of X-linked Alport syndrome (XLAS) in men positive for the collagen α5(Ⅳ) chain in epidermal basement membrane.

METHODThis was a retrospective study. Totally 725 families were diagnosed as Alport syndrome in Department of Pediatrics of Peking University First Hospital during January 1998 to December 2014, among them 450 patients were males with XLAS. Patients who met both of the following two criteria were included in this study. (1)Patients underwent α5(Ⅳ) chain staining in the epidermal basement membrane. (2)Mutations in COL4A5 gene were detected.Mann-Whitney test and χ(2) test were used.

RESULTTotally 140 males with XLAS were included in this study, 18 cases were α5 (Ⅳ)-positive and 122 cases were α5 (Ⅳ)-negative. The two groups of patients were compared, the median age at analysis was 11.0 vs. 7.2 years (Z = -1.839, P = 0.066), the 24-hour urine protein was 1.50 vs. 0.57 g/d (Z = -1.212, P = 0.226), the rate of hearing loss was 28% vs. 53% (χ(2) = 3.619, P = 0.067), the number of patients progressed to end stage renal disease (ESRD) was 4 vs. 12 (χ(2) =2.377, P = 0.128), the median age of ESRD was 31.0 vs. 16.6 years (Z = -2.554, P = 0.011), the rate of missense mutations in COL4A5 gene was 67% vs. 52% (χ(2) = 1.424, P = 0.313).

CONCLUSIONCompared the two groups of patients with positive and negative staining for the collagen Ⅳ α5 chain in epidermal basement membrane, there was no significant difference in the proteinuria level, the rate of hearing loss and genotype of COL4A5 gene. But the patients with positive staining progressed to ESRD significantly later than the patients with negative staining.

Basement Membrane ; pathology ; Child ; Collagen Type IV ; genetics ; DNA Mutational Analysis ; Deafness ; Humans ; Kidney Failure, Chronic ; Male ; Mutation, Missense ; Nephritis, Hereditary ; genetics ; pathology ; Proteinuria ; Retrospective Studies

Humans ; Nephritis, Hereditary ; therapy

Objective To investigate the diagnosis and surgical management of ureteral obstruction after renal transplantation.Method A respective study was performed on 15 cases of ureteral obstruction who received renal allografts.All of the cases were confirmed,including 5 cases of stenosis of ureterovesical junction,4 cases of stenosis of distal ureter,2 cases of blood clot blockage,2 cases of edema due to perforation of distal ureter,1 case of ureteral calculi,and 1 case of extrinsic compression of hematoma.All 14 patients underwent open surgical management to reestablish ureter with D-J catheter as stent for 12-16 weeks.One patient was subjected to percutaneous nephrostomy followed by percutaneous ureteroscopy,the obstructed site was identified at ureterovesical junction and antegrade balloon dilation and D-J stent in ureter were performed subsequently.Result Fifteen patients were diagnosed as ureteral obstruction by colour Doppler ultrasound and MRU.All of the patients were resolved the obstructions after surgical managements and the renal function got improved.No reobstruction occured during one year follow-up period.Conclusion Colour Doppler ultrasound and MRU can definitely be used to diagnose ureteral obstruction after renal transplantation.Early diagnosis and surgical management are very important.Open surgical management of the obstructed ureter is an effective method.Antigrade balloon dilation is a therapeutic approach to treat ureteral obstruction.