This paper summarized the clinical experience of Professor XIE Jingri in treating bile reflux gastritis from the perspective of “disease of both wood and earth”. It is believed that the pathogenesis of bile reflux gastritis is the disharmony of liver and spleen， gallbladder and stomach， which belongs to the disease of both wood and earth. The treatment principle of harmonizing wood and earth is advocated. Clinically， bile reflux gastritis is divided into five patterns including liver constraint and spleen deficiency， liver fire harassing stomach， gallbladder and stomach obstruction， damp-heat in the gallbladder， and stomach yin depletion， for which Shugan Lipi Decoction （疏肝理脾汤） can be used to soothe the liver and move qi， fortify the spleen and activate spleen， Lianyu Qinggan Decoction （连萸清肝汤） to clear the liver and drain fire， harmonize stomach and stanch bleeding， Tongfu Paishi Decoction （通腑排石汤） to unblock and discharge gallbladder， harmonize stomach and direct counterflow qi downward， Qingdan Huazhuo Decoction （清胆化浊汤） to clear and drain damp-heat， promote gallbladder function and stanch bleeding， and Yiwei Decoction （益胃汤） to enrich and nourish stomach yin， clear and discharge deficiency-fire. When the clinical pattern is complex， multiple patterns occur simultaneously， or the disease involves multiple zang fu （脏腑） organs， the liver and the spleen should be regulated simultaneously， and the gallbladder and the stomach treated together， with self-designed Shumu Tiaotu Decoction （疏木调土汤） recommended as a basic prescription with flexibl modification based on the symptoms.

Metabolic syndrome(MS)is a complex syndrome based on metabolic disorders in the human body,and is a risk factor for cardiovascular diseases and even certain tumors,with a complicated etiology and unclear pathogenesis.Helicobacter pylori(Hp)is one of the most common pathogenic bacteria,closely associated with the occurrence and development of various diseases.Currently,there are numerous studies both domestically and internationally on the relationship between Hp and MS and its components.Most studies suggest that there is an association between Hp and MS and Hp influences the occurrence and development of MS through multiple pathways.Eradicating Hp may become a new option for treating MS.Based on recent studies from both domestic and international sources,this paper discusses the association between Hp and MS,analyzes the effects of Hp on obesity,blood glucose,blood lipids,and blood pressure,and aims to provide new ideas for the prevention and treatment of MS.

OBJECTIVE: To analyze the clinical and genetic characteristics of three Chinese pedigrees affected with Citrullinemia type I (CTLN1). METHODS: Three children diagnosed at the Children's Hospital Affiliated to Shandong University from 2017 to 2020 were selected as the study subjects. Genomic DNA was extracted from peripheral blood samples of the probands and their parents. Next generation sequencing (NGS) was carried out to detect pathological variants of the probands. Sanger sequencing was used for validating the candidate variant among the pedigrees. RESULTS: The probands have respectively carried compound heterozygous variants of c.207_209delGGA and c.1168G>A, c.349G>A and c.364-1G>A, c.470G>A and c.970G>A of the ASS1 gene, which were respectively inherited from their parents. CONCLUSION The newly discovered c.207_209delGGA and c.364-1G>A variants have enriched the mutational spectrum of the ASS1 gene. And the mutation spectrum of Chinese CTLN1 patients is heterogeneous.
Child ; Humans ; Argininosuccinate Synthase/genetics* ; Citrullinemia/genetics* ; East Asian People ; Mutation ; Pedigree

OBJECTIVE: To explore the genetic basis for a child featuring global developmental delay. METHODS: DNA was extracted from peripheral blood sample taken from the patient and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members. RESULTS: A heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene was detected in the proband, which was a verified to be de novo in origin. CONCLUSION The heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene probably underlay the disease in this child.
Arthrogryposis ; Child ; Family ; GTP-Binding Protein beta Subunits ; Heterozygote ; Humans ; Intellectual Disability/genetics* ; Whole Exome Sequencing

OBJECTIVE: To delineate the clinical and genetic features of a Chinese boy suspected for Niemann-Pick disease type C. METHODS: The patient underwent clinical examination and was subjected to next generation sequencing. Suspected mutations were validated by Sanger sequencing. Potential impact of the novel mutation was predicted by SIFT, PolyPhen-2 and MutationTaster software. RESULTS: The child has featured hepatosplenomegaly, increased direct bilirubin, jaundiced skin and liver damage. DNA sequencing showed that he has carried compound heterozygous mutations of NPC1 gene, namely c.2728GG (p.P90R), which were inherited from his mother and father, respectively. The c.2728G>A (p.G910S) mutation was previously reported, while the c.269C>G (p.P90R) was a novel mutation. CONCLUSION The child has suffered from Niemann-Pick disease type C due to mutations of NPC1 gene. Above finding has enriched the spectrum of NPC1 mutations and provided a basis for genetic counseling and prenatal diagnosis.
Asian Continental Ancestry Group ; Bilirubin ; Carrier Proteins ; genetics ; Child ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Membrane Glycoproteins ; genetics ; Mutation ; Niemann-Pick Disease, Type C ; genetics

Variation of maternal gut microbiota may increase the risk of autism spectrum disorders (ASDs) in offspring. Animal studies have indicated that maternal gut microbiota is related to neurodevelopmental abnormalities in mouse offspring, while it is unclear whether there is a correlation between gut microbiota of ASD children and their mothers. We examined the relationships between gut microbiome profiles of ASD children and those of their mothers, and evaluated the clinical discriminatory power of discovered bacterial biomarkers. Gut microbiome was profiled and evaluated by 16S ribosomal RNA gene sequencing in stool samples of 59 mother-child pairs of ASD children and 30 matched mother-child pairs of healthy children. Significant differences were observed in the gut microbiome composition between ASD and healthy children in our Chinese cohort. Several unique bacterial biomarkers, such as Alcaligenaceae and Acinetobacter, were identified. Mothers of ASD children had more Proteobacteria, Alphaproteobacteria, Moraxellaceae, and Acinetobacter than mothers of healthy children. There was a clear correlation between gut microbiome profiles of children and their mothers; however, children with ASD still had unique bacterial biomarkers, such as Alcaligenaceae, Enterobacteriaceae, and Clostridium. Candidate biomarkers discovered in this study had remarkable discriminatory power. The identified patterns of mother-child gut microbiome profiles may be important for assessing risks during the early stage and planning of personalized treatment and prevention of ASD via microbiota modulation.
Adult ; Animals ; Autism Spectrum Disorder ; microbiology ; Bacteria ; classification ; genetics ; isolation & purification ; Biomarkers ; Child ; Child, Preschool ; Cohort Studies ; Female ; Gastrointestinal Microbiome ; Humans ; Male ; Mice ; Mothers ; Risk Assessment

Objective To summarize and study the clinicopathologic features,diagnosis and differential diagnosis of tricho-blastoma (TB).Methods The clinicopathological characteristics,histomorphology features and immunophenotype features of TB and differential diagnosis with multiple diseases in 3 cases of TB were retrospectively analyzed;moreover,5 cases of basal cell carci-noma were selected and performed the immunophenotype detection,which focused on the differential diagnosis with TB.Results The masses in 3 cases were located under the skin without connecting with the epidermis and were composed of basal-like cells with palisade arrangement of peripheral cells.The case 1 showed unequal-sized multiple cyst cavities and pigment deposition and was di-agnosed as pigmented TB.The papillary mesenchymal bodies were found in case 2,which was diagnosed as TB.The basal cells of tumor in case 3 distributed as palisade arrangement and formed the wave structure,which was diagnosed as rippled-pattern TB.AR in 3 cases and Bcl-2 in 2 cases were negative expression,CK20 in 1 case was sporadically positive,CD10 stroma and papillary struc-ture in 3 cases were positive,paliform-like arrange tumor cells CD10 around basal cell carcinomas in 5 cases were positive,AR in 4 cases was positive,Bcl-2 in 3 cases was positive and CK20 in 5 cases was negative.Conclusion TB is a benign tumor derived from the hair follicle germinal epithelium with a good prognosis after complete resection and the differential diagnosis focuses on basal cell carcinomas.

Objective To investigate the effect of nano carbon tracer for protecting parathyroid function in the surgery of thyroid cancer.Methods A total of 178 patients with thyroid cancer admitted in our hospital from Jun.2014 to Mar.2016 were collected and divided into the control group and the observation group according to the random number table method,89 cases in each group.The control group received routine surgery,while the observation group received nanocarbon suspension during surgery.The levels of serum parathyroid hormone and serum calcium in the 2 groups were measured at 3 days after surgery,and the patients with low parathyroid hormone,normal parathyroid hormone and low calcium were counted.Results The rate of ormal serum calcium in the observation group was 91.01％(81/89),significantly higher than 67.42％(60/89) in the control group (P＜ 0.05).The rate of normal parathyroid hormone in observation group was 94.38％ (84/89),significantly higher than 64.04％ (57/89) in the control group (P＜0.05).Conclusion The nano carbon tracer is helpful for protection of parathyroid function in the surgery of thyroid cancer.

Objective To investigate the combined inhibition effect and the potential mechanism of rapamycin (mammalian target of rapamycin inhibitor) and PD98059 (mitogen-activated protein kinase/extracellular signal-regulated kinase kinase (MEK) inhibitor) on mouse colorectal cancer (CRC). Methods S-ICR mice were subcutaneously injected with 20 mg/kg of 1,2-dimethylhydrazine dihydrochloride in the nape for 20 weeks to induce CRC. From the 16th week, the mice were treated with alone or combined injection with 0.25 mg/kg rapamycin and 2.5 mg/kg PD98059. The drugs were administered for 8 weeks. Subsequently, the animals were sacrificed and dissected, the tumor sizes were measured, and the tumors were harvested for pathological assay. Furthermore, the phosphorylation of mTOR, p70S6K, and 4E-BPl proteins was detected by using immunohistoehemistry. Results The mice treated with rapamycin (44. 44 %) or PD 98059 (either alone (38.89%) or combination treatment (6.67%) were significantly less likely to develop cancer compared with mice receiving none of them (77.78%, P<0. 05). The average size of tumors was (6.15±2. 192), (8.85±3. 983), (2.917±0. 191), (16.36±6.855) mm3 respectively (P<0.05).The anti-cancer effect of the combination treatment was substantially significant. The proteins of phospho-mTOR, phospho-p70s6K and phospho-4E-BPl were significantly down-regulated after treatments (all P values < ,0.05). Conclusions Combined treatment was more effective than single-drug treatments of rapamycin or PD98059 alone for the prevention and treatment of mouse CRC. The mTOR signal pathway might be involved in the inhibitory mechanism.

Objective To evaluate the clinical effect of endoscopic sphineterotomy (EST) and endoscopic sphincterotomy associated with traditional Chinese medicine in the treatment of intrahepafic duct stones.Methods Eighty patients with common bile duet stones and intrahepatic duct stone were randomly divided into a treatment group and a control group.EST associated with traditional Chinese medicine was performed in the treatment group,and EST only was used in the control group.Clinical effects were observed.Results Common bile Duet stone clearance was achieved in 94% patients in the treatment group,contrasting 88% in the control group.There was no significant difference between them (P＞0.05).While intrahepatic duct stone clearance was 74% and 28% respectively in the treatment group and the control group,showing significant difference (P＜0.05).Conclusion It is a good way that endoscopic sphincterotomy associated with traditional Chinese medicine treating intrahepatic duct stones.