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ObjectiveTo investigate the mechanism of Baitouweng Tang in inhibiting the growth of esophageal cancer (EC) cells by regulating budding uninhibited by benzimidazoles 1 (BUB1)/signal transducer and activator of transcription 3 (STAT3) signaling pathway. MethodGene chip technology was used to explore the differential gene expression between esophageal cancer tissues and normal tissues and identified differentially expressed genes. The differentially expressed genes were analyzed by bioinformatics methods. EC cells were treated with 25, 50, 100, 200, 400, 800 mg·L-1 Baitouweng Tang. EC cell viability was detected by Thiazolyl Blue (MTT) colorimetry. Cell cycle and apoptosis were measured by flow cytometry. The expression of BUB1 was measured by real time quantitative polymerase chain reaction (Real-time PCR). The protein levels of BUB1, STAT3, phosphorylated (p)-STAT3, Cyclin B1 (CCNB1), cyclin-dependent kinase 1 (CDK1), B-cell lymphoma-2 (Bcl-2), cysteinyl aspartate-specific proteinase(Caspase)-3, and Caspase-9 were measured by Western blot. The migration and invasion abilities of the cells were measured by wound-healing and Transwell invasion assays. ResultDifferentially expressed genes were primarily involved in biological processes, signaling pathways, and network construction related to cell mitosis, with BUB1 identified as a key core gene. Compared with the control group, Baitouweng Tang inhibited BUB1 expression (P<0.05,P<0.01). In vitro experiments showed that compared with the control group, Baitouweng Tang could significantly inhibit the growth (P<0.05,P<0.01), migration and invasion (P<0.05,P<0.01) of EC cells, induce apoptosis (P<0.05,P<0.01), and cause G2/M phase increase (P<0.01). After treatment with Baitouweng Tang, compared with the results in the control group, the expression of Caspase-3, and Caspase-9 in EC cells increased significantly (P<0.05,P<0.01), while the expression of Bcl-2, BUB1, CCNB1, and CDK1 decreased significantly (P<0.05,P<0.01). Moreover, the STAT3 signaling pathway was also found to play an important role in this process. ConclusionBaitouweng Tang may inhibit the growth of EC cells by downregulating BUB1 and mediating the STAT3 signaling pathway.
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Objective Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked neurodegenerative disorder which usually involving hearing impairment, gradual dystonia, and other symptoms. In this study, we perform analyzed the genetic makeup of a family with this rare Mohr-Tranebjaerg syndrome. Methods We collected the clinical data of the family, did the whole exome sequencing on the proband Ⅲ6 with a rare mutation, and verified the mutation in another affected family member Ⅲ5 and unaffected members Ⅰ1, Ⅰ2, Ⅱ1, Ⅱ5, Ⅱ7, Ⅱ8, Ⅲ7. Results The patients in the family all showed early-onset deafness. More than a couple of affected male members have dystonia with/without mental disorders. Genetic testing results showed the proband Ⅲ6 had a c.133-2delA in TIMM8A (NM_ 004085.3, DDP1), highly likely pathogenic(LP). This variation was detected in affected Ⅲ5 as well as the unaffected females Ⅰ1, Ⅱ5, Ⅱ7. Conclusions MTS caused by the rare TIMM8A mutation, the molecular etiology of the family with this rare disease, is highly consistent with the clinical manifestations and segregation. Other than the deafness, other symptoms varied among the affected family members. Genetic diagnosis for such X-linked diseases can also identify female heterozygotes. Genetic and reproduction counseling can help families in the family planning.
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Objective:To explore the association between dietary patterns and the incidence of type 2 diabetes mellitus(T2DM), so as to provide insights for the prevention and management of T2DM.Methods:Participants were recruited from the " The Tianjin Chronic Inflammation and Health Cohort Study(TCLSIH)" cohort study from 2013 to 2018, who had completed the modified semiquantitative food frequency questionnaire(FFQ) and blood glucose testing( n=26 425), free of cardiovascular disease, cancer, or diabetes at baseline. The relevant information collected includes food frequency, blood glucose concentration, and other confounding factors. In this study, the correlation between dietary patterns and T2DM was tested using Cox proportional risk regression model, and the gender stratification analysis and body mass index stratification analysis of different gender groups were carried out. All statistical analysis was performed using SAS 9.3 software. Results:The age of all participants was (41.0±11.5)years, and the cumulative incidence was 3.84% for T2DM. The cumulative incidence of T2DM in male population was 5.29%, while that in female population was 2.16%. There were significant differences in the incidence of T2DM among different genders( P <0.001). The multivariable-adjusted hazard ratios( HR) and corresponding 95% CI of T2DM across the plant-based dietary pattern score were 1.09(95% CI 0.91-1.31), 0.80(95% CI 0.66-0.97), and 0.76(95% CI 0.62-0.94; Ptrend =0.010). Moreover, no statistically significant differences were observed between animal and traditional northern Chinese diets with the incidence of T2DM. Conclusions:The plant-based dietary patterns were associated with substantially lower risk of developing T2DM, and there were no significant association between animal and traditional northern Chinese dietary patterns with T2DM. Plant-based dietary patterns characterized by a variety of fruit, leeks, onions, seaweed may be beneficial to the prevention and control of T2DM.
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Objective:To analyze the molecular epidemiological characteristics of Campylobacter fetus subsp. testudinum ( Cft). Methods:Fifteen strains of Cft collected in our laboratory from 2010 to 2022 were subjected to whole-genome sequencing. Their epidemiological characteristics were analyzed based on the global genome data of Cft on GenBank database. MLST-GrapeTree software was used to obtain the genetic structure of Cft strains. A phylogenetic tree was constructed using core-genome single nucleotide polymorphism (cgSNP) analysis, and the sequence clusters were identified using rhierBAPS. Virulence genes and drug resistance genes of Cft strains were annotated using CARD, ResFinder and VFDB database. Their susceptibility to antibiotics was tested using E-test method and the results were analyzed using the CLSI-M45 sensitivity standard for Campylobacter jejuni/ Campylobacter coli. Results:Based on average nucleotide identity (ANI) analysis, the genome data of 41 Cft strains including 24 isolated from human, 13 from animals and four of unknown sources were collected from GenBank database. Among the 24 human-derived strains, 20 were linked to Asian descent and only one was linked to Caucasian descent (spouse of Asian descent), showing statistically significant differences in human ethnicity. All of the 13 animal-derived strains were originated from reptilian sources, including six from turtles, four from snakes and three from lizards. MLST revealed that ST46 was the predominant ST in China, while ST15 was the major sequence type in the United States. Grapetree analysis also demonstrated that the genetic diversity in China was greater than that in the United States. The phylogenetic tree constructed based on cgSNP and BAPS identified six distinct sequence clusters. The Chinese isolates were scattered in diverse sequence clusters and closely related to animal-derived strains, while the American isolates mainly belonged to ST15. The genes encoding virulence factors such as flagella, glycosylation systems and adhesins were carried by all of the 41 Cft strains (100.00%). The invasion-related virulence genes, such as the genes encoding the IV type secretion system ( virB4, virB9, virD4) and the resistance-related tetO efflux pump gene were specifically identified in the emerging ST74 clones. In vitro drug susceptibility testing of 15 Chinese isolates revealed 46.67% of the Cft strains were resistant to ciprofloxacin and 100.00% were sensitive to erythromycin. Conclusions:The global sequence clusters of Cft isolates showed a great genetic diversity. Most of the people with Cft infection had basic immune diseases and might have eaten or had contact with reptiles. Notably, the Chinese domestic infection of ST46 and the emerging ST74 should arouse our more attention.
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Objective:To study the molecular phylogeny and virulence gene profile of Francisella salimarina. Methods:Phylogenetic analysis of Francisella salimarina was performed based on the global genome data of related Francisella species on GenBank database. The consistency in phylogenetic analysis based on single marker genes (such as 16S rRNA gene, rpoB gene and mdh gene) and the core genome as compared. Virulence genes and antibiotic resistance genes were annotated using the virulence factor database (VFDB) and the Comprehensive Antibiotic Resistance Database (CARD), respectively. The virulence of Francisella salimarina was analyzed with a Galleria mellonella (greater wax moth) infection model using Francisella philomiragia ATCC 25015 T as reference strain. Results:The phylogenetic analysis revealed that Francisella salimarina was closely related to Francisella philomiragia. The phylogenetic tree based on mdh gene was highly similar to that based on the core genome. Francisella salimarina could be differentiated from other related species by 16S rRNA gene or mdh gene, with the latter being more accurate. Eight Francisella salimarina strains carried multiple virulence genes, mainly involved in secretion, adhesion, immune regulation, motility and stress survival. Moreover, beta-lactam resistance gene blaFPH was identified in all eight strains. Francisella salimarina showed high lethality in the Galleria mellonella infection model, which was similar to Francisella philomiragia ATCC 25015 T. Conclusions:Francisella salimarina was a rare pathogen with similar pathogenicity to Francisella philomiragia. The mdh gene could be used as a molecular target for rapid identification of Francisella salimarina.
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ObjectiveTo analyze the spatiotemporal characteristics and prevention and control measures of the pandemic caused by the SARS-CoV-2 Omicron variant in Shanghai in 2022, aiming to optimize future prevention and control strategies. MethodsDescriptive statistical method was used to analyze data on daily infections released by the Shanghai Municipal Health Commission from March 1 to June 30, 2022. ResultsAs of 30 June, a total of 627 110 infections and 588 deaths had been reported in Shanghai. Most of the cases were in Pudong New Area (35.47%), Minhang District (10.18%) and Huangpu District (9.27%). The cumulative infection rate was 8.78% in Huangpu District, which was the highest among all the districts. With the progress of the pandemic, the prevention and control measures were strengthened from a “precise prevention and control” strategy to “block and grid” screening, and then upgraded to city-wide lockdown. All daily new infections were identified from the quarantined population on April 29, 2022, reaching the goal of “clearance of community transmission”. ConclusionThe cumulative infections in Shanghai exceeded any previous epidemics in mainland China. Given the enhanced transmissibility and vaccine-induced immune escape of the Omicron variant, timely and strong public health measures are needed to suppress the pandemic under the general policy of "Dynamic zero-COVID".
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OBJECTIVE To study the mechanism of interfering with long non-coding RNA nicotinamide nucleotide transhydrogenase-antisense RNA1 (LncRNA NNT-AS1) expressing to reduce paclitaxel (TAX) resistance in non-small cell lung cancer (NSCLC) cells. METHODS NSCLC TAX-resistant cell line (A549/TAX) was constructed, and the expressions of LncRNA NNT-AS1 in normal, parental, and drug-resistant cells were observed. The targeting relationship of microRNA-582-5p (miR-582- 5p) with LncRNA NNT-AS1 and high mobility group box2 (HMGB2) was verified. A549/TAX cells were cultured in vitro to observe the effects of interfering with LncRNA NNT-AS1 alone or interfering with LncRNA NNT-AS1 and miR-582-5p on the expressions of LncRNA NNT-AS1 and miR-582-5p, the mRNA and protein expressions of HMGB2, cell viability, clone formation and apoptosis. The effects of interfering with LncRNA NNT-AS1 on tumor growth and the expression of miR-582-5p and the mRNA and protein expressions of HMGB2 in tumor tissue were observed in nude mice. RESULTS Compared with normal cells, LncRNA NNT-AS1 was highly expressed in parental and drug-resistant cells (P<0.05), showing an increasing trend. It was validated that miR-582-5p had a targeting relationship with LncRNA NNT-AS1 and HMGB2. After interfering with the expression of LncRNA NNT-AS1, the expression of LncRNA NNT-AS1 and the mRNA and protein expressions of HMGB2, cell viability and the number of cloned cells in A549/TAX cell, decreased significantly, while the expression of miR-582-5p and the apoptotic rate increased significantly (P<0.05); simultaneously interfering with the expression of miR-582-5p could reverse above changes (P< 0.05). Interfering with the expression of LncRNA NNT-AS1 in tumor cell could significantly reduce tumor volume and tumor weight of nude mice bearing tumors; at the same time, the expression of miR-582-5p was up-regulated significantly and the mRNA and protein expressions of HMGB2 were down-regulated significantly (P<0.05). CONCLUSIONS Interfering with the expression of LncRNA NNT-AS1 may alleviate TAX chemotherapy resistance in NSCLC through targeted up-regulation of miR-582-5p and down-regulation of HMGB2.
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Background In recent years gut microbiota has been found to play an important role in the occurrence and development of various chronic diseases, and diet is an important factor influencing gut microbiota. However, the effects of maternal high-fat diet in pre-pregnancy and pregnancy-and-lactation periods on offspring gut microbiota are still unclear. Objective To investigate the effects of maternal high-fat diet in pre-pregnancy and pregnancy-and-lactation periods on gut microbiota of offspring mice. Methods C57BL/6J female mice were divided into four groups according to the diet patterns (high-fat diet, HFD; control diet, CD) given before and after conception, namely the pre-pregnancy control diet and post-pregnancy control diet group (CD-CD group), the pre-pregnancy control diet and post-pregnancy high-fat diet group (CD-HFD group), the pre-pregnancy high-fat diet and post-pregnancy control diet group (HFD-CD group), and the pre-pregnancy high-fact diet and post-pregnancy high-fat diet group (HFD-HFD group). Female mice were conceived in the same cage with male mice after 6 weeks of feeding, and the successfully conceived females continued to be randomly divided into two groups receiving either high-fat or control diet, and when the offspring mice were born, they were breastfed directly by the mothers, with each mother nursing only one offspring mouse. The number of offspring mice in each group was 6, with half males and half females. The body weight of offspring mice were recorded and body weight gain was compared between the four groups. After the lactational period, fresh feces of the offspring were collected, and the fecal DNA was extracted. Specific primers were designed according to the bacterial 16S rDNA(V3+V4) sequence and then the sequencing was performed using the Illumina HiSeq 2500 platform. Species annotation and operational taxonomic unit (OTU) analysis of sequencing data were conducted using QIMME, USEARCH and R software. In alpha diversity analysis, ACE and Chao1 indices were used to evaluate species richness, Shannon and Simpson indices considered both species richness and evenness. In beta diversity analysis, principal coordinates analysis (PCoA) and analysis of similarities (Anosim analyses) were used to find the differences in composition of gut microbiota between four groups, and line discriminant analysis effect size (LefSe) was conducted to identify which specific taxa contributed to the significant differences between groups. Results A greater effect of post-pregnancy diet on offspring body weight was observed, and the lowest body weight was recorded in the HFD-CD group during the whole experimental period. The results of OTU analysis showed that high-fat diet during post-pregnancy period reduced the number of OTUs in offspring mice, and the results of alpha diversity analysis showed that high-fat diet during post-pregnancy period reduced the richness of intestinal flora (ACE, P<0.05; Chao1, P<0.05), whereas differences in the α-diversity indices did not show statistical significance in the offspring mice with pre-pregnancy high-fat diet. The high-fat diet at different periods also led to changes in the dominant intestinal flora of the offspring. The high-fat diet during post-pregnancy period increased the abundance of Tenericutes (P<0.05), and decreased the abundance of Bacteroides, Epsilonbacteraeota, Cyanobacteria, and Deferribacteres (all Ps<0.05). At the genus level, high-fat diet during both pre-pregnancy and post-pregnancy periods decreased the abundance of Lactobacillus (P<0.05), and high-fat diet during pre-pregnancy period increased the abundance of Alistipes (P<0.05), while high-fat diet during post-pregnancy period increased the abundance of Lachnospira and Ruminococcus, and decreased the abundance of Muribaculaceae and Helicobacter (all Ps<0.05). The results of beta diversity analysis showed that the CD-CD group had a similar flora composition to the HFD-CD group, and the CD-HFD group had a similar flora composition to the HFD-HFD group, and the results of Anosim analysis showed statistically significant differences between groups (R=0.743, P<0.01). The LEfSe analysis counted all species with an effect on the differences between groups greater than the set value, which were Lactobacillus in the CD-CD group, Clostridiales in the CD-HFD group, Bacteroidetes and Helicobacters in the HFD-CD group, and Blautia, Ruminococcaceae, and Roseburia in the HFD-HFD group. Conclusion It is found that varied effects of high-fat diet in different periods on the flora of the offspring mice. The high-fat diet during pre-pregnancy and post-pregnancy periods could reduce the abundance of Lactobacillus, but show different effects on the abundance of other intestinal flora such as Muribaculaceae, Lachnospiraceae, and Helicobacter differed. Diet during post-pregnancy period has a greater influence on modeling the offspring gut microbiota.
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【Objective】 To analyze the efficacy of ABO-matched platelet transfusions and ABO-mismatched platelet transfusions in patients with hematonosis and to explore the effect of circulating immune complexes (CIC) on the efficacy. 【Methods】 A total of 1 510 platelet transfusions involving 757 patients in our hospital from January 2013 to June 2018 were retrospectively analyzed. The patients were divided into ABO-matched group and ABO-mismatched group. The 12-hour percent platelet recovery (PPR) was used to evaluate the effect of platelet transfusion between the groups. TEG was used to evaluate the efficacy of the transfusions, and CIC value was measured before and after platelet transfusion. The effect of A-B/CIC (or AB-O/CIC) on platelet function was tested. 【Results】 1)The results showed that platelet transfusion was effective(PPR>30%) in both ABO-matched group[PPR=(66.5±52.8)%] and ABO-mismatched group[PPR=(47.7%±51.6)%], and there was no increase in the report of hemolytic transfusion reaction of ABO-mismatched group. The efficacy of ABO-matched platelet transfusions was significantly better than that of ABO-mismatched group(P 0.05. 2) In the experiment of simulating platelet transfusion in patients, no difference in MA value of TEG was noticed between ABO-mismatched groups and ABO-matched groups (all P>0.05). 3) There was no difference in CIC value before and after platelet transfusions (P>0.05) in the ABO-matched group, while CIC value decreased significantly in all ABO-mismatched groups (all P < 0.05). 4) The MA values (mm)of AB, A and O blood group platelets mixed with A-B/CIC and AB-O/CIC were 36.1 vs 31.1, 37.8 vs 35.0 and 43.1 vs 45.7, with the MA value (mm) in control group at 49.2 vs 49.5, respectively. 【Conclusion】 Platelet transfusion was effective in both ABO-matched group and ABO-mismatched group, and the efficacy of ABO-matched group was significantly better compared with the ABO-mismatched group. There was no increase in the safety risk of ABO-mismatched platelet transfusion with major mismatches/minor matches. CIC can inhibit the function of platelets and combine more with ABO-matched platelets than with ABO-mismatched platelets, therefore, CCI is an important influencing factor on the efficacy of platelet transfusions.
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OBJECTIVE@#To explore the genetic basis for a pedigree affected with Nance-Horan syndrome.@*METHODS@#Clinical manifestation of the patients was analyzed. Genomic DNA was extracted from peripheral blood samples of the pedigree members and 100 unrelated healthy controls. A panel of genes for congenital cataract was subjected to next-generation sequencing (NGS), and candidate variant was verified by Sanger sequencing and bioinformatic analysis based on guidelines of American College of Medical Genetics and Genomics (ACMG). mRNA expression was determined by reverse transcriptase-PCR (RT-PCR). Linkage analysis based on short tandem repeats was carried out to confirm the consanguinity.@*RESULTS@#A small insertional variant c.766dupC (p.Leu256Profs*21) of the NHS gene was identified in the proband and his affected mother, but not among unaffected members and the 100 healthy controls. The variant was unreported in Human Gene Mutation Database (HGMD) and other databases. Based on the ACMG guideline, the variant is predicted to be pathogenic (PVS1+PM2+PM6+PP4).@*CONCLUSION@#The novel variant c.766dupC of the NHS gene probably underlay the X-linked dominant Nance-Horan syndrome in this pedigree.
Subject(s)
Humans , Cataract/genetics , Genetic Diseases, X-Linked , Mutation , Pedigree , State Medicine , Tooth AbnormalitiesABSTRACT
OBJECTIVE@#To explore the genetic basis for a patient with tuberous sclerosis complex.@*METHODS@#Genomic DNA was extracted from peripheral blood samples from members of his family and 100 unrelated healthy controls. The proband was subjected to next-generation sequencing, and candidate variant was confirmed by multiple ligation-dependent probe amplification (MLPA) and Sanger sequencing. Reverse transcription-PCR (RT-PCR) was carried out to determine the relative mRNA expression in the proband.@*RESULTS@#The patient was found to harbor a c.2355+1G>C splicing variant of the TSC2 gene. Sequencing of cDNA confirmed that 62 bases have been inserted into the 3' end of exon 21, which has caused a frameshift producing a truncated protein.@*CONCLUSION@#The novel splicing variant c.2355+1G>C of the TSC2 gene probably underlay the TSC in the proband. Above finding has expanded the variant spectrum of TSC2 and provided a basis for preimplantation genetic testing and/or prenatal diagnosis.
Subject(s)
Female , Humans , Pregnancy , Mutation , RNA Splicing/genetics , Tuberous Sclerosis/genetics , Tuberous Sclerosis Complex 1 Protein/genetics , Tuberous Sclerosis Complex 2 Protein/geneticsABSTRACT
We report a case of a pregnant woman with 46,XX karyotype and positive sex-determining region on the Y chromosome ( SRY) gene and her female fetus. Ultrasound examination at 12 +6 gestational weeks indicated a thickened fetal nuchal translucency, and 46, XX with a positive SRY gene was detected in the fetus through quantitative fluorescent-polymerase chain reaction and amniotic fluid karyotype. However, the ultrasound showed that the gender of the fetus was female, which was inconsistent with the phenotype of male syndrome with 46, XX combining positive SRY gene. The fluorescent in situ hybridization (FISH) revealed that the short arm of the Y chromosome translocated to the long arm of one of the X chromosomes, namely Yp11.3-Xq28. In addition, a copy number variation at Yp11.31p11.2 copy (about 1 MB) was found by chromosomal microarray analysis, which validated the result of FISH and was consistent with the mother. After genetic counseling, the parents chose to continue the pregnancy to full term, and no abnormalities were found in the infant during the follow-up.
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Isatis indigotica Fort. (Ban-Lan-Gen) is an herbal medicine prescribed for influenza treatment. However, its active components and mode of action remain mostly unknown. In the present study, erucic acid was isolated from Isatis indigotica Fort., and subsequently its underlying mechanism against influenza A virus (IAV) infection was investigated in vitro and in vivo. Our results demonstrated that erucic acid exhibited broad-spectrum antiviral activity against IAV resulting from reduction of viral polymerase transcription activity. Erucic acid was found to exert inhibitory effects on IAV or viral (v) RNA-induced pro-inflam-matory mediators as well as interferons (IFNs). The molecular mechanism by which erucic acid with antiviral and anti-inflammatory properties was attributed to inactivation of NF-kB and p38 MAPK signaling. Furthermore, the NF-kB and p38 MAPK inhibitory effect of erucic acid led to diminishing the transcriptional activity of interferon-stimulated gene factor 3 (ISGF-3), and thereby reducing IAV-triggered pro-inflammatory response amplification in IFN-β-sensitized cells. Additionally, IAV- or vRNA-triggered apoptosis of alveolar epithelial A549 cells was prevented by erucic acid. In vivo, erucic acid administration consistently displayed decreased lung viral load and viral antigens expression. Meanwhile, erucic acid markedly reduced CD8+cytotoxic T lymphocyte (CTL) recruitment, pro-apoptotic signaling, hyperactivity of multiple signaling pathways, and exacerbated immune inflammation in the lung, which resulted in decreased lung injury and mortality in mice with a mouse-adapted A/FM/1/47-MA(H1N1) strain infection. Our findings provided a mechanistic basis for the action of erucic acid against IAV-mediated inflammation and injury, suggesting that erucic acid may have a therapeutic potential in the treatment of influenza.
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OBJECTIVE@#To compare the effects of medical ozone oil and urea ointment for prevention and treatment of hand-foot skin reaction (HFSR) caused by sorafenib in patients with hepatocellular carcinoma (HCC).@*METHODS@#A total of 99 patients diagnosed with advanced HCC according to National Comprehensive Cancer Network (NCCN) who were scheduled to receive sorafenib treatment for the first time were enrolled in this study between April, 2018 and January, 2020. The patients were randomized into medical ozone oil group (@*RESULTS@#Eight patients were excluded for poor compliance or protocol violations, leaving a total of 91 patients for analysis, including 44 in medical ozone oil group and 47 in urea ointment group. Sixteen (36.4%) of patients in ozone oil group developed HFSR, a rate significantly lower than that in urea ointment group (57.4%; @*CONCLUSIONS@#Medical ozone oil can significantly reduce the incidence and severity of HFSR to improve the quality of life of HCC patients receiving sorafenib treatment.
Subject(s)
Humans , Antineoplastic Agents/therapeutic use , Carcinoma, Hepatocellular/drug therapy , Hand-Foot Syndrome/prevention & control , Liver Neoplasms/drug therapy , Niacinamide/therapeutic use , Ozone/therapeutic use , Phenylurea Compounds/adverse effects , Quality of Life , Sorafenib/therapeutic useABSTRACT
OBJECTIVE@#To detect potential variants of MECP2 gene in three pedigrees affected with Rett syndrome (RTT).@*METHODS@#All exons and their flanking regions of the MECP2 gene were subjected to Sanger sequencing and multiplex ligation-dependent probe amplification assay.@*RESULTS@#The probands of pedigrees 1 and 2 have respectively carried a c.965C>G and a c.1157_1197del41 variant of the MECP2 gene, while the proband of pedigree 3 carried a heterozygous deletional variant in exon 4 of the MECP2 gene.@*CONCLUSION@#Variants of the MECP2 gene probably underlay the RTT in the three pedigrees. Above finding has enriched the spectrum of MECP2 gene variants, and provided a guidance for the patients upon preimplantation genetic testing and prenatal diagnosis.
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The patient was a middle-aged male with the recurrent transient ischemic attack caused by carotid web, and the common symptoms include recurrent left limb weakness and numbness. According to the results of the CT angiography, the digital substraction angiography, the magnetic resonance angiography and the colour-Doppler ultrasound of the neck, the patient was considered with carotid artery web. After conventional medical treatment such as anti-platelet aggregation, lipid regulation and improvement of cerebral circulation, the patient′s symptoms did not improve significantly. Later, the patient underwent carotid endarterectomy. The pathological examination results of the tissue from the surgery confirmed the patient with carotid artery web. Moreover, after surgery, the patient did not experience transient ischemic attack any more.
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Objective:To investigate the correlation between right-to-left shunt (RLS) and lesion pattern on diffusion-weighted imaging (WDI) in young patients with cryptogenic stroke (CS).Methods:Young patients with CS admitted to the Department of Neurology, Brain Hospital of Hunan Province from January 2017 to June 2020 were selected. According to the results of head MRI, they were divided into multiple infarction group and single infarction group. The demographic characteristics, clinical data, DWI lesion characteristics, RLS and shunt volume were compared between the two groups. Multivariate logistic regression analysis was used to identify the correlation between RLS and shunt volume and lesion pattern on DWI. Results:A total of 90 young patients with CS were enrolled. Among them, 61 (67.8%) were males, and their age was 39.87±3.49 years. There were 44 patients (48.9%) in the multiple infarction group and 46 (51.1%) in the single infarction group. Compared with the single infarction group, the RLS detection rate in the multiple infarction group was significantly higher ( P<0.05), the infarcts were more common in the cortex-subcortex ( P<0.05), and more infarctions were small infarcts ( P<0.05). Multivariate logistic regression analysis showed that cortical-subcortical lesions (odds ratio 6.875, 95% confidence interval 1.917-24.649; P=0.003) and RLS (odds ratio 2.631, 95% confidence interval 1.006-6.879; P=0.049) were independently associated with multiple infarcts in young patients with CS, but RLS shunt volume was not. Conclusions:Young CS patients with RLS are mostly multiple infarctions. RLS is independently associated with multiple infarctions in young CS patients, while RLS shunt is not.
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The patient was a middle-aged male with the recurrent transient ischemic attack caused by carotid web,and the common symptoms include recurrent left limb weakness and numbness.According to the results of the CT angiography,the digital substraction angiography,the magnetic resonance angiography and the colour-Doppler ultrasound of the neck,the patient was considered with carotid artery web.After conventional medical treatment such as anti-platelet aggregation,lipid regulation and improvement of cerebral circulation,the patient's symptoms did not improve significantly.Later,the patient underwent carotid endarterectomy.The pathological examination results of the tissue from the surgery confirmed the patient with carotid artery web.Moreover,after surgery,the patient did not experience transient ischemic attack any more.
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Objective To study the effect of different doses of low molecular weight heparin on coagulation mechanism after thoracic surgery.Methods A prospective randomized controlled study was conducted to select patients who underwent thoracic cancer surgery (lung cancer,esophageal cancer,cardiac cancer) from February 2015 to October 2018.According to the Caprini risk assessment model,101 patients with high risk of deep venous thrombosis were randomly assigned to groups A,B and C.Control group A (34 cases) did not use low molecular weight heparin;group B (34 cases) used prophylactic low molecular weight heparin calcium after operation;group C (33 cases) used therapeutic low molecular weight heparin calcium after operation.The platelet count (PLT),fibrinogen (FIB),prothrombin time (PT),D-dimer (D-D),postoperative thoracic drainage and lower extremity deep vein ultrasound were observed before and after operation.Results The incidence of deep venous thrombosis (DVT) was 11.76% in group A,2.94% in group B and 3.03% in group C,with significant difference between group B and C and group A (P < 0.05),but there was no significant difference between group B and C (P > 0.05).The levels of FIB and D-D after operation were significantly higher than those before operation (P < 0.05),but the levels of indexes in group B and C were significantly lower than those in group A (P < 0.05).Conclusions Low molecular weight heparin calcium does not increase bleeding and thoracic drainage,which is beneficial to improve the hypercoagulable state of patients and has good safety.However,the use of low molecular weight heparin calcium in different doses (prevention amount and treatment amount) has no significant effect on the occurrence of lower extremity deep vein thrombosis and coagulation index.
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Objective@#To study the effect of different doses of low molecular weight heparin on coagulation mechanism after thoracic surgery.@*Methods@#A prospective randomized controlled study was conducted to select patients who underwent thoracic cancer surgery (lung cancer, esophageal cancer, cardiac cancer) from February 2015 to October 2018. According to the Caprini risk assessment model, 101 patients with high risk of deep venous thrombosis were randomly assigned to groups A, B and C. Control group A (34 cases) did not use low molecular weight heparin; group B (34 cases) used prophylactic low molecular weight heparin calcium after operation; group C (33 cases) used therapeutic low molecular weight heparin calcium after operation. The platelet count (PLT), fibrinogen (FIB), prothrombin time (PT), D-dimer (D-D), postoperative thoracic drainage and lower extremity deep vein ultrasound were observed before and after operation.@*Results@#The incidence of deep venous thrombosis (DVT) was 11.76% in group A, 2.94% in group B and 3.03% in group C, with significant difference between group B and C and group A (P<0.05), but there was no significant difference between group B and C (P>0.05). The levels of FIB and D-D after operation were significantly higher than those before operation (P<0.05), but the levels of indexes in group B and C were significantly lower than those in group A (P<0.05).@*Conclusions@#Low molecular weight heparin calcium does not increase bleeding and thoracic drainage, which is beneficial to improve the hypercoagulable state of patients and has good safety. However, the use of low molecular weight heparin calcium in different doses (prevention amount and treatment amount) has no significant effect on the occurrence of lower extremity deep vein thrombosis and coagulation index.