OBJECTIVE: To identify the gene mutation types of 4 suspected β-thalassemia patients in Yunnan Province, and to analyze the genotypes and hematological phenotypes. METHODS: Whole genome sequencing was performed on the samples of 4 suspected β-thalassemia patients from the Dai ethnic group in a thalassemia endemic area of Yunnan Province, whose hematological phenotypes were not consistent with the results of common thalassemia gene mutations. The mutations of β-globin gene clusters were confirmed by polymerase chain reaction (PCR) and Sanger DNA sequencing technology. RESULTS: The 3.5 kb deletion in β-globin gene cluster (NC_000011.10: g. 5224302-5227791del3490bp) was detected in 4 patients' samples, of which 1 case was also detected with HbE mutation and 1 case with CD17 mutation. These 2 patients displayed moderate anemia phenotype, while the two patients with only the 3.5 kb deletion presented with other mild anemia phenotype. CONCLUSION Heterozygous carriers with rare 3.5 kb deletion of the β-globin gene cluster may develop mild anemia, compound mutations of the 3.5 kb deletion with other mutations may led to intermediate thalasemia with moderate to sever anemia. In areas with a high incidence of thalassemia, suspected patients should undergo genetic testing to avoid missing or misdiagnosing rare mutations.
Humans ; beta-Globins/genetics* ; Multigene Family ; beta-Thalassemia/genetics* ; Mutation ; Genotype ; Sequence Deletion ; Phenotype ; Male ; Female

Osteoporosis(OP) is a senile bone disease characterized by an imbalance between bone remodeling and bone formation. Targeting pathogenesis of kidney deficiency, spleen deficiency, and blood stasis, Bushen Jianpi Huoxue Decoction has a significant effect on the treatment of OP by tonifying kidney, invigorating spleen, and activating blood circulation. MicroRNA(miRNA) and the anti-apoptotic protein B-cell lymphoma-2-like protein 1(BCL2L1) are closely related to bone cell metabolism. Therefore, in this study, the binding of miR-140-5p to BCL2L1 was detected by dual luciferase assay and polymerase chain reaction(PCR). After silencing or overexpressing miR-140-5p, the apoptosis, autophagy, and osteogenic function of human fetal osteoblast cell line 1.19(HFOB1.19) were observed by flow cytometry and Western blot. Bushen Jianpi Huoxue Decoction-containing serum was prepared by intragastric administration of Bushen Jianpi Huoxue Decoction in rats. Different concentrations of Bushen Jianpi Huoxue Decoction-containing serum were used to treat HFOB1.19 with or without miR-140-5p mimic. The expression of osteogenic proteins in each group was observed, and the role of miR-140-5p/BCL2L1 in apoptosis and autophagy of HFOB1.19 was studied, along with the effect of Bushen Jianpi Huoxue Decoction on these processes. As indicated by the dual luciferase assay, miR-140-5p bound to BCL2L1. Flow cytometry and Western blot showed that miR-140-5p promoted apoptosis and inhibited autophagy in HFOB1.19. After intervention with high, medium, and low doses of Bushen Jianpi Huoxue Decoction-medicated serum, compared with the miR-140-5p NC group, the expression of osteocalcin(OCN), osteopontin(OPN), Runt-related transcription factor 2(RUNX2), and transforming growth factor beta 1(TGF-β1) decreased in the miR-140-5p mimic group, while the expression of bone morphogenetic protein 2(BMP2) showed no significant difference under high-dose intervention. Therefore, miR-140-5p/BCL2L1 can promote apoptosis and inhibit autophagy in HFOB1.19. Bushen Jianpi Huoxue Decoction can affect the osteogenic effect of miR-140-5p through BMP2.
MicroRNAs/metabolism* ; Autophagy/drug effects* ; Apoptosis/drug effects* ; Humans ; Drugs, Chinese Herbal/administration & dosage* ; Animals ; Cell Line ; bcl-X Protein/metabolism* ; Osteoblasts/metabolism* ; Rats ; Osteoporosis/physiopathology* ; Male ; Rats, Sprague-Dawley ; Osteogenesis/drug effects*

Objective:To explore the association between triglyceride-glucose (TyG) index and carotid artery plaque in patients with type 2 diabetic kidney disease (DKD).Methods:Clinical data of 620 DKD patients admitted in the Department of Endocrinology, the Affiliated Huai′an First People′s Hospital of Nanjing Medical University from August 2018 to August 2022 were retrospectively analyzed, including 366 cases with carotid artery plaque and 254 cases without carotid plaque. According to TyG index quartile patients were divided into Q 1,Q 2, Q 3 and Q 4 groups with TyG index<8.94,≥8.94 and<9.44,≥9.44 and<9.96, and≥9.96, respectively. The prevalence of carotid plaque in DKD patients with different TyG index levels was analyzed. The relationship between TyG index and carotid plaque occurrence in DKD patients were analyzed with Logistic regression analysis and restricted cubic lines (RCS). Results:The age, course of disease, smoking rate, SBP, HbA1c, TG, BUN, eGFR and TyG indexes in carotid plaque group were significantly higher than those in non-carotid plaque group (all P<0.05). Binary logistic regression analysis showed that age, disease course, smoking rate, SBP, HbA1c, TG, BUN, low eGFR and TyG index were independent influencing factors for carotid plaque ( OR=1.05, 1.05, 1.88, 1.01, 1.09, 1.11, 1.09, 0.99 and 1.28, all P<0.05). The risk of carotid plaque in DKD patients in Q 3 and Q 4 groups was 2.20 and 2.50 times higher than that in Q 1 group. After adjusting for age, sex, course of disease, smoking, BMI, blood pressure (SBP and DBP), blood lipids (TC, HDL and LDL) and renal function, the risk of carotid plaque in DKD patients in Q 3 and Q 4 groups was higher than that in Q 1 group ( OR=1.95 and 2.24). RCS analysis showed that the correlation between TyG index and the risk of carotid plaque in DKD patients was linear(χ 2=0.40, P=0.527), and DKD patients with TyG index>9.95 had a higher risk of carotid plaque. Conclusions:TyG index is significantly elevated in DKD patients with carotid plaque, and TyG index is an independent risk factor for the occurrence of carotid plaques in DKD patients.

italic>Artemisia argyi (A. argyi) is a Chinese herbal medicine in China. The main active components are volatile oils, flavonoids, and other compounds, which have various pharmacological activities. Methoxylated flavonoids are the main active ingredients in A. argyi. Flavonoid O-methyltransferase (FOMT) is a key enzyme in the O-methylation of flavonoids. In order to further understand the function and characteristics of FOMT proteins, this paper carried out the whole genome mining and identification of FOMT genes in A. argyi and performed phylogenetic, chromosomal localization, gene sequence characterization, subcellular localization prediction, protein structure, gene structure analysis, and expression pattern analysis. The results showed that a total of 83 FOMT genes were identified in the genome of A. argyi. The phylogenetic tree shows that FOMT genes are divided into two subgroups, CCoAOMT (caffeoyl CoA O-methyltransferase) subfamily (32 genes) and COMT (caffeic acid O-methyltransferase) subfamily (51 genes). Gene sequence analysis showed that the number of amino acids encoded by FOMT was 70-734 aa, the molecular weight was 25 296.55-34 241.3 Da, and the isoelectric point was 4.51-9.99. Compared with 32 members of the CCoAOMT subfamily, nearly 1/3 of the 51 members of the COMT subfamily were hydrophobic proteins and 2/3 were hydrophilic proteins. Subcellular localization prediction showed that more than 80% of CCoAOMT subfamily members were located in the cytoplasm, and 96% of COMT subfamily members were located in the chloroplast. COMT subfamily members have more motifs than CCoAOMT subfamily members. The N-terminal motifs of COMT subfamily proteins are relatively variable, while the C-terminal motifs are relatively conserved. Expression pattern analysis showed that CCoAOMT subfamily members were mainly expressed in roots, while COMT members were mainly expressed in leaves. Some FOMTs showed the tissue expression specificity by real-time quantitative PCR analysis, especially in leaves. In this study, we identified and analyzed the FOMT gene family in A. argyi, and provided a theoretical basis for further research on the function of FOMTs and the biosynthesis of methylated flavonoids in A. argyi.

Objective To explore the application value of multimodal image fusion technology in the diagnosis and treatment of intrahepatic cholangiocarcinoma (ICC).Methods The retrospective descriptive study was conducted.The clinicopathological data of 11 patients with ICC who were admitted to Zhujiang Hospital of Southern Medical University between January and September 2018 were collected.There were 5 males and 6 females,aged (55 ± 12)years,with a range from 30 to 74 years.The data of contrast-enhanced computed tomography (CT) and magnetic resonance imaging (MRI) with gadoxetate disodium (Gd-EOB-DTPA) of the upper abdomen were respectively collected,and three-dimensional(3D) model of liver was constructed based on CT-MRI fusion images.The preoperative evaluation and surgical planning were carried out based on the different modal imaging examination technologies.The indocyanine green (ICG) molecular fluorescence imaging system and augmented reality navigation system were used to guide hepatectomy.Observation indicators:(1) preoperative evaluation;(2) intraoperative situations;(3) comparison between surgical planning based on the different model imaging technologies and actual surgical method;(4) follow-up.Follow-up using outpatient examination and telephone interview was performed to detect postoperative complications up to November 2018.Measurement data with normal distribution were represented as Mean ± SD,measurement data with skewed distribution were represented as M (range).Count data were described as absolute number or percentage and comparisons were analyzed using the paired chi-square test.Results (1) Preoperative evaluation:the proportions of grade 3 and above branch vessels of the portal vein and hepatic vein system and tumor margin by enhanced CT examination and enhanced MRI examination were respectively 11/11,4/11 and 5/11,11/11,with statistically significant differences in above indicators (x2 =4.16,5.14,P＜0.05).The enhanced CT showed 11 liver cancer lesions and enhanced MRI showed 13 lesions (including 2 lesions not demonstrated by enhanced CT,with a maximum diameter ≤ 10 mm).The 3D model of liver based on CT-MRI fusion image:location,number,infiltrating range (tumor boundary),intrahepatic vascular distribution,variation and its spatial relationship with lesions could be stereoscopically,intuitively and comprehensively displayed.(2) Intraoperative situations:of 11 patients,11 lesions were explored with naked eyes;13 lesions were detected by ICG molecular fluorescence imaging system,including 2 lesions showing low uptake lesions in liver and gallbladder specific period by preoperative MRI examinations and intrahepatic metastasis cancer by pathologic examination.Of 11 patients,6 had naked-eye ischemia boundaries around related vessels of hepatic portal ligation;10 with anatomical hepatectomy had hepatic segments or hemihepatic boundary by ICG molecular fluorescence imaging system,including 2 using positive staining and 8 using anti-staining.Among 11 patients,3 (1 combined with local resection of hepatic segment Ⅷ metastases),2,2,1,1,1 and 1 underwent respectively left hepatectomy,left lateral lobectomy of liver,right hepatectomy,extended right hepatectomy,right lobectomy of liver,resection of partial hepatic segment Ⅷ and mesohepatectomy.Seven of 11 patients received regional lymph node dissection and 4 received simple lymph node biopsy.Of 11 patients,1 diagnosed as with bile leakage of liver section underwent suture and ligation treatment with 4-0 Prolene;10 didn't occurred bile leakage.The surgical margin of 11 patients was negative.The operation time,volume of intraoperative blood loss and duration of hospital stay were (240± 118)minutes,(275±249)mL and (13 ± 8) days,respectively.There was no blood transfusion in the perioperative period.(3) Comparison between surgical planning based on the different model imaging technologies and actual surgical method:surgical planning of 3D model based on CT,MRI and CT-MRI fusion image in 6,9 and 11 patients was respectively consistent with actual surgical method.(4) Follow-up:11 patients were followed up for 2-10 months,with a median time of 6 months.Three patients had postoperative complications,2 of which were found in Clavien-Dindo Ⅰ and Ⅱ,including 1 with pleural effusion + peritoneal effusion and 1 with pleural effusion,they were improved after conservative treatment;1 with complication of Clavien-Dindo Ⅲ (postoperative intra-abdominal bleeding) was improved by selective arterial embolization using percutaneous femoral artery puncture.There was no postoperative bile leakage,hepatic failure and death.Conclusion Multimodal image fusion technique is helpful to optimize the preoperative surgical planning,which can assist the recognition of important vessels and real-time navigation of hepatectomy during operation,and improve the safety of operation.

OBJECTIVE: To evaluate the efficacy and safety of Kangfuyan capsule combined with antibiotics in the treatment of pelvic inflammatory diseases.METHODS: The CNKI,WANFANG,VIP,CBM,Pubmed,Embase and The Cochrane Library were searched from their date of foundation to August 1,2018.The randomized controlled trial were included on the treatment for pelvic inflammatory diseases by Kangfuyan capsules with antibiotics or by antibiotics alone.Meta-analysis was conducted using RevMan5.3 software.RESULTS: Totally 20 reports(2820 subjects)were included.The clinal of cure rate,pain relief,pelvic signs relief,pelvic effusion reduction,decrease in recurrence rate had statistical difference between two groups(P<0.05).There was no significant difference in adverse reaction rate or the effect in reducing pelvic mass(P>0.05).CONCLUSION: Kangfuyan capsule combined with antibiotics in treating pelvic inflammatory disease can improve clinical efficacy,reduce the occurrence of sequelae of pelvic inflammatory disease,without increasing adverse reactions.A large quantity of samples and long-term clinical studies need to be conducted to confirm the effects.

To compare the polysaccharides( LBLP),total flavonoids( LBLTF) and total phenols( LBLTP) of Lycium barbarum leaves from 14 production areas from Ningxia,Qinghai and Gansu at different harvesting time. Our results showed that there were significant difference of LBLP,LBLTF and LBLTP among different production areas. The LBLP collected from Xiangride township production area,Dulan,Qinghai was as high as 15. 02%. The LBLTF collected from Dagele township production area,Geermu,Qinghai was as high as28. 63%. The LBLTP collected from Keluke township production area,Delingha,Qinghai was as high as 16. 7%. There were also significant difference of these 3 components between different harvest periods. The average LBLP in May( 10. 20%) was significantly higher than that in June( 8. 49%). However,the average LBLTF( 17. 71%) and LBLTP( 12. 77%) in June was significantly higher than that in May( 14. 15%,11. 19%). The LBLTF and LBLTP have a positive correlation with the altitude of production areas,but there was no significant association between LBLP and altitude. The LBLP,LBLTF and LBLTP in different production areas and harvesting time was significant difference,the results provide some references for furthermore development and utilization of L. barbarum leaves.
Analysis of Variance ; China ; Flavonoids ; analysis ; Geography ; Lycium ; chemistry ; Phenols ; analysis ; Plant Leaves ; chemistry ; Polysaccharides ; analysis ; Seasons

OBJECTIVE: To analyze the hematological characteristics of HbE homozygotes. METHODS: Complete blood cells count and hemoglobin electrophoresis were used for phenotypic analysis of 78 cases with HbE homozygotes from Yunnan province, China. The PCR-fluorescence hybridization was used to detect the common gene mutation of thalassemia. The hematological indexes, including MCV, MCH, Hb, HbA2, HbF and HbE were statistically analyzed between groups with different sex, ages and compound α thalassemia status. RESULTS: In HbE homozygotes (HbEE), 89.5% (17/19) children presented mild to moderate microcytic hypochromic anemia, and 10.5% of them presented moderate anemia. 39.6% (19/48) of women with HbEE developed mild anemia ,while 11 cases of male with HbE homozygotes were asymptomatic. The levels of MCV and MCH in HbE homozygotes increased by co-inheritance of α thalassemia mutation. CONCLUSION The clinical phenotype of HbE homozygote shows highly heterogeneous, which is relates with age, sex and co-inheriting α-globin genotypes. In Hb EE women and children are more likely to develop mild to moderate anemia. The microcytic hypochromic anemia degree is relieved when HbEE combined with α- thalassemia.
Child ; China ; Female ; Genotype ; Hemoglobin E ; genetics ; Homozygote ; Humans ; Male ; Phenotype ; alpha-Thalassemia

Although radiation therapy is a cornerstone of modern management of malignancies, various side effects are inevitably linked to abdominal and pelvic cancer after radiotherapy. Radiation-mediated gastrointestinal (GI) toxicity impairs the life quality of cancer survivors and even shortens their lifespan. Hydrogen has been shown to protect against tissue injuries caused by oxidative stress and excessive inflammation, but its effect on radiation-induced intestinal injury was previously unknown. In the present study, we found that oral gavage with hydrogen-water increased the survival rate and body weight of mice exposed to total abdominal irradiation (TAI); oral gavage with hydrogen-water was also associated with an improvement in GI tract function and the epithelial integrity of the small intestine. Mechanistically, microarray analysis revealed that hydrogen-water administration upregulated miR-1968-5p levels, thus resulting in parallel downregulation of MyD88 expression in the small intestine after TAI exposure. Additionally, high-throughput sequencing showed that hydrogen-water oral gavage resulted in retention of the TAI-shifted intestinal bacterial composition in mice. Collectively, our findings suggested that hydrogen-water might be used as a potential therapeutic to alleviate intestinal injury induced by radiotherapy for abdominal and pelvic cancer in preclinical settings.
Animals ; Body Weight ; Down-Regulation ; Gastrointestinal Microbiome ; Gastrointestinal Tract ; Humans ; Hydrogen ; Inflammation ; Intestine, Small ; Mice ; Microarray Analysis ; Oxidative Stress ; Pelvic Neoplasms ; Quality of Life ; Radiotherapy ; Survival Rate ; Survivors

Objective To develop a minimally invasive operating technique for the treatment of hypertensive thalamic hemorrhage. Methods The clinical data of 15 patients with hypertensive thalamic hemorrhage performed neuroendoscope-assisted micro-invasive surgical treatment in our hospitals from July 2007 to June 2010 were retrospectively analyzed; their treatment efficacy were also concluded. Results The mean operation time of these patients was (1.5±0.4) h and the amount of blood loss was 30-40 mL; the mean clearance rate of hematoma in the thalamus was (86.2 ±7.9)percentage. Patients were followed up and evaluated by Glasgow outcome scale for at least 3 months.Three patients (21.4%) showed good recovery, 4 (28.6%) moderate disability, 4(28.6%) severe disability and 2 (14.3%) vegetative survival; 1 patient (7.1%) died. Conclusion Neuroendoscope-assisted micro-invasive surgical treatment is a fast and minimally invasive operating technique with little blood loss in the treatment of hypertensive thalamic hemorrhage.