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Objective To explore the mechanism of the demethylase fat mass and obesity associatal(FTO)gene on the proliferation of human liver cancer cell line HepG2.Methods HepG2 cells were divided into the control group,FTO group(transfected with FTO over-expression plasmid),si-FTO group(transfected with si-FTO)and si-FTO+si-FoxO1 group(simultaneously transfected with si-FTO and si-FoxO1).The expression of FTO in cells was detected by RT-qPCR.Cell proliferation,invasion and apoptosis were examined using CCK-8 assay,Transwell chamber assay and flow cytometry,respectively.Dot blot assay was performed to measure m6 A methylation,and protein expression of FoxO1 in cells was detected by Western blot.Results Analysis of overall survival in liver cancer patients using The Cancer Genome Atlas(TCGA)showed higher expression of FTO associated with shorter survival(P<0.05).Compared with normal liver cells HL7702,FTO relative expression was significantly increased in human liver cancer cells HepG2(P<0.05).The relative expression of FTO in si-FTO group cells was lower than that in the control group,while the relative expression of FTO in FTO group was higher than that in the control group(P<0.05).The relative expression of FTO in the si-FTO+si-FoxO1 group was higher than that in the si-FTO group(P<0.05).Compared with the Control group,cell viability,count of invasive cells,relative level of m6 A were significantly decreased,while apoptosis rate and protein expression of FoxO1 were significantly increased in the si-FTO group(P<0.05).Cell viability,count of invasive cells,and relative expression level of m6 A were sig-nificantly higher,while apoptosis rate and protein expression of FoxO1 were significantly lower in the FTO group compared to the Control group(P<0.05).Compared with the si-FTO group,cell viability,invasive cells and rela-tive level of m6 A were significantly increased,while apoptosis rate and protein expression of FoxO1 were significant-ly decreased in the si-FTO+si-FoxO1 group(P<0.05).Conclusion High expression of FTO is associated with poor clinical prognosis.Knockdown of the demethylase FTO gene inhibits proliferation and invasion of liver cancer cells and induces their apoptosis.The mechanism is potentially related to the regulation of FoxO1.
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Hepatocellular carcinoma (HCC) is one of the most common malignancies and is a major cause of cancer-related mortalities worldwide (Forner et al., 2018; He et al., 2023). Sarcopenia is a syndrome characterized by an accelerated loss of skeletal muscle (SM) mass that may be age-related or the result of malnutrition in cancer patients (Cruz-Jentoft and Sayer, 2019). Preoperative sarcopenia in HCC patients treated with hepatectomy or liver transplantation is an independent risk factor for poor survival (Voron et al., 2015; van Vugt et al., 2016). Previous studies have used various criteria to define sarcopenia, including muscle area and density. However, the lack of standardized diagnostic methods for sarcopenia limits their clinical use. In 2018, the European Working Group on Sarcopenia in Older People (EWGSOP) renewed a consensus on the definition of sarcopenia: low muscle strength, loss of muscle quantity, and poor physical performance (Cruz-Jentoft et al., 2019). Radiological imaging-based measurement of muscle quantity or mass is most commonly used to evaluate the degree of sarcopenia. The gold standard is to measure the SM and/or psoas muscle (PM) area using abdominal computed tomography (CT) at the third lumbar vertebra (L3), as it is linearly correlated to whole-body SM mass (van Vugt et al., 2016). According to a "North American Expert Opinion Statement on Sarcopenia," SM index (SMI) is the preferred measure of sarcopenia (Carey et al., 2019). The variability between morphometric muscle indexes revealed that they have different clinical relevance and are generally not applicable to broader populations (Esser et al., 2019).
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Humans , Aged , Sarcopenia/diagnostic imaging , Carcinoma, Hepatocellular/diagnostic imaging , Muscle, Skeletal/diagnostic imaging , Deep Learning , Prognosis , Radiomics , Liver Neoplasms/diagnostic imaging , Retrospective StudiesABSTRACT
Objective:To evaluate the reliability and validity of the Chinese version of HEMO-FISS-QoL(HF-QoL) questionnaire (HF-QoL-C) in the Chinese population with hemorrhoids.Methods:From November 2021 to November 2022, a self-constructed general information questionnaire, HF-QoL-C, and the 36-item short form health survey (SF-36), Goligher classification, and Giordano severity of hemorrhoid symptom questionnaire (GSQ) were used to conduct a questionnaire survey on 760 hemorrhoid patients in the anorectal department of six hospitals. The data was analyzed for reliability and validity using SPSS 21.0 and AMOS 26.0 software.Results:The Cronbach's α coefficient of HF-QoL-C and its dimension ranged from 0.831 to 0.960, and the split coefficient was 0.832-0.915. Four common factors were extracted through principal component exploratory factor analysis. Confirmatory factor analysis indicated acceptable structural validity( χ2/ df=8.152, RSMEA=0.097, CFI=0.881, IFI=0.881, NFI=0.867). HF-QoL-C was correlated with SF36 and GSQ( r=-0.694, 0.501, both P<0.01). There were differences in the total score and dimensional scores of HF-QoL-C between surgical and drug treated patients, different grades of Goligher classification for hemorrhoidal disease, and different ranges of hemorrhoid prolapse (all P<0.001). No ceiling effect was found in the total score and the scores of each dimension(0.3%-2.0%). There was a floor effect in both psychological function and sexual activity dimensions (16.7%, 35.1%). Conclusion:HF-QoL-C has good reliability and validity, which can be used to measure the quality of life of Chinese hemorrhoid patients.
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Common iliac artery ureteral fistula is a rare but potentially life-threatening disease which is difficult to diagnose clinically. This paper reports a case of common iliac artery ureteral fistula. The patient was admitted to our hospital due to ureterostomy bleeding for one day. He underwent radical cystectomy and bilateral ureterostomy for bladder cancer 4 years ago, and also underwent radiotherapy and bilateral ureteral stents indwelling after the operation. Angiography revealed a left common iliac artery pseudoaneurysm, and a left common iliac artery ureteral fistula was considered. The left common iliac artery stent-graft was implanted. The patient recovered well after the operation, and there was no obvious hematuria during follow-up period of 6 months.
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Objective:To investigate the mechanism of invariant natural killer T (iNKT)2 cell improving hepatic fat deposition in nonalcoholic fatty liver (NAFL).Methods:NAFL model was established by feeding C57BL/6J mice with high fat diet. The levels of serum total cholesterol, triglyceride, high density lipoprotein-cholesterol (HDL-C), low density lipoprotein-cholesterol (LDL-C), alanine aminotransferase (ALT), and aspartate aminotransferase (AST) in the peripheral blood of mice were analyzed using automatic biochemical analyzer. The pathological changes of liver were observed with HE staining. The cell frequencies of iNKT, iNKT1, and iNKT2 in liver were detected by flow cytometry. Western blotting was used to detect the expression of sterol regulatory element binding protein 1c (SREBP-1c), peroxisome proliferator activated receptor (PPAR)-α, and nuclear factor-κB (NF-κB) in liver tissues.Results:Compared with control group, the body weight of NAFL mice increased, the levels of total cholesterol, HDL-C, LDL-C, ALT, and liver fat deposition increased, the protein expression of SREBP-1c and PPAR-α in liver increased as well as the the protein phosphorylation level of NF-κB. After intraperitoneal injection of α-galactosylceramide (α-GalCer), the levels of total cholesterol, HDL-C, and LDL-C, liver fat deposition decreased, liver SREBP-1c was down-regulated, PPAR-α expression was up-regulated, and the proportion of liver iNKT2 subgroup increased in NAFL mice.Conclusion:iNKT2 cells improve NAFL liver fat deposition, which is related to the down-regulation of SREBP-1c and up-regulation of PPAR-α.
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Objective:To screen the differentially expressed genes on whole expression profiles of the inflammation-related cytokines in mice infected with influenza virus by the gene chip technology, and to explore the intervention effect of Shufeng Xuanfei Jiedu formula.Methods:Male ICR mice were divided into normal group (N group), influenza virus infective model group (M group), Oseltamivir control group (C group) and Shufeng Xuanfei Jiedu formula high, medium and low dose groups (SH, SM, SL groups) according to the random number table method, with 10 rats in each group. A mouse model of influenza virus pneumonia was reproduced by nasal drip of influenza virus strain FM1 (0.05 mL). In N group, 0.05 mL normal saline was used. In SH, SM and SL groups, Shufeng Xuanfei Jiedu formula was used 2 hours after intranasal infection (2 times, equal and 1/2 of the clinical treatment dose, approximately 3.8, 1.9 and 1.0 g·mL -1·d -1) for 4 days. In C group, the dosage of Oseltamivir was 2.5 g·mL -1·d -1. In N group and M group, distilled water was given (0.2 mL once a day). On the 5th day, the whole lung of mice was taken. The lung index was calculated, and the pathological sections were observed. The total RNA of lung tissue was extracted and detected after hybridization with mice whole gene expression spectrum chip to select differentially expressed genes of chemokine pathways. The expression intensity ratio of the chip probe signal in each group vs. M group was calculated, and P < 0.05 and log 2ratio > 1 were up-regulated genes, while P < 0.05 and log 2ratio < -1 were down-regulated genes. Results:Compared with the N group, the lung index in the M group was significantly higher, and pathological changes were found in lung tissue, which suggested that the model of influenza virus infection was successfully established. Compared with the M group, the lung index of mice in C, SH, SM, SL groups was significantly lower (0.96±0.14, 1.45±0.22, 1.14±0.18, 1.22±0.21 vs. 1.72±0.15, all P < 0.05), and the extent and degree of lesions were reduced, however, there was no significant difference among the groups. Gene chip analysis showed that there were more differentially expressed genes in N group vs. M group, SH group vs. M group, SM group vs. M group, SL group vs. M group. It could be used for further signal transduction pathway screening. Compared with N group, the differential gene expression of chemokine C-C ligands (CCL-3, CCL-5) and chemokine C-X-C ligands (CXCL-9, CXCL-10) in M group were significantly up-regulated [log 2 (M group/N group) were 6.64, 3.51, 5.40, 6.64, respectively]. Compared with M group, the gene expressions of CCL-3, CCL-5, CXCL-9 and CXCL-10 were significantly down-regulated in C, SH, SM and SL groups [log 2 (C group/M group) were -3.96, -2.26, -3.12, -2.40; log 2 (SH group/M group) were -5.57, -2.37, -1.57, -1.01; log 2 (SM group/M group) were -4.35, -1.47, -1.26, -1.74; log 2 (SL group/M group) were -2.86, -1.86, -1.23, -1.39, respectively]. Conclusion:Shufeng Xuanfei Jiedu formula inhibits inflammatory damage in mice after influenza virus infection by down-regulating the expressions of CCL-3, CCL-5, CXCL-9 and CXCL-10 on chemokine pathways.
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Objective To simplify and optimize the micronucleus test method. Methods The preparation process of micronucleus test was simplified and optimized. In the improved method, the superfine solution was directly absorbed and discarded after cell culture, and then potassium chloride solution was added for hypotonic treatment. Then pre-fixation, centrifugation. Once the centrifugation was completed, the cells which fixed only once were directly dropped to the slide. Results The background of the slides was clear and the cells were slightly darker, but the observation of cells and micronucleus was not affected. There were a lot of binuclear cells, which can meet the counting requirements. With oil and high magnification, the image wais clearer and the background was cleaner. The cytoplasmic integrity rate, cell stain rate and the average number of cells per high magnification field of cells by the improvement method were significantly increased compared with that by the traditional methods, the probability P values were 0.0051 (χ2=7.8375), 0.0140 (χ2=6.0437) and 0.0025 (t=3.0951), respectively. The rate of micronucleus cells and cells group index had no statistical significance compared with the traditional method, the probability P values were 0.7749 (χ2=0.0817) and 0.5152 (U =0.0000), respectively. Conclusion The new method is more simple, easier to control the test quality, more reliable test results, and save time, manpower and material resources.
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Objective:To analyze the differential gene expression of Shufeng Xuanfei Jiedu formula on whole expression profiles of the inflammation-related cytokines in mice infected with influenza virus by the gene chip technology.Methods:Male ICR mice were divided into normal group (N group), influenza virus pneumonia model group (M group), oseltamivir control group (C group) and Shufeng Xuanfei Jiedu formula high, medium and low dose groups (SH, SM, SL groups) according to the random number table method, with 10 mice in each group. A mouse model of influenza virus pneumonia was established by nasal drip of influenza virus strain FM1 (0.05 mL); in group N, 0.05 mL normal saline was used. In SH, SM and SL groups, Shufeng Xuanfei Jiedu formula was prescribed after 2 hours of intranasal infection (drug concentration approximately 3.8, 1.9 and 1.0 kg/L), 0.2 mL once a day for 4 days; in group C, the dosage of oseltamivir was 2.5 kg/L; in group N and group M, distilled water was given. On the 5th day, the whole lung of mice was harvested, and the total RNA of lung tissue was extracted and detected after hybridization with mice whole gene expression spectrum chip. Differential expressed genes of cytokines involved in inflammatory pathways were selected. The intensity expression ratio of the chip probe signal in each group vs. M group was calculated, and P < 0.05 and log2 ratio > 1 were defined as up-regulated genes, while P < 0.05 and log2 ratio < -1 were down-regulated genes. The mRNA expressions of interleukin (IL-1, IL-8) and intercellular adhesion molecule-1 (ICAM-1) were detected by reverse transcription-polymerase chain reaction (RT-PCR). Results:Compared with group N, the differential gene expressions of IL-1, IL-8 and ICAM-1 in group M were significantly up-regulated [log2 (N/M) were 2.62, 2.07, 1.41, respectively, all P < 0.05]. Compared with group M, the gene expressions of IL-1, IL-8, ICAM-1 were significantly down-regulated in SH, SM, SL and C groups [log2 (SH/M) were -1.91, -1.85, -0.88; log2 (SM/M) were -3.10, -1.74, -1.84; log2 (SL/M) were -1.89, -1.39, -0.53; log2 (C/M) were -2.46, -1.52, -1.44, respectively, all P < 0.05]. RT-PCR showed that the mRNA expressions of IL-1, IL-8 and ICAM-1 in group M were significantly higher than those in group N [IL-1 (2 -ΔΔCT): 4.63±0.24 vs. 1.01±0.13, IL-8 (2 -ΔΔCT): 6.28±0.13 vs. 1.02±0.09, ICAM-1 (2 -ΔΔCT): 2.90±0.18 vs. 1.02±0.12, all P < 0.05]. The mRNA expressions of IL-1, IL-8, ICAM-1 in SH, SM, SL and C groups were lower than those in group M [IL-1 (2 -ΔΔCT): 2.12±0.32, 1.71±0.07, 2.05±0.16, 1.66±0.13 vs. 4.63±0.24; IL-8 (2 -ΔΔCT): 3.89±0.13, 2.08±0.19, 2.98±0.20, 2.02±0.12 vs. 6.28±0.13; ICAM-1 (2 -ΔΔCT): 1.72±0.93, 1.34±0.14, 1.53±0.25, 1.17±0.12 vs. 2.90±0.18, all P < 0.05]. There was no significant difference among the SH, SM, SL and C groups. Conclusion:Shufeng Xuanfei Jiedu formula inhibits inflammatory damage in mice after influenza virus infection by down-regulating the expressions of IL-1, IL-8, and ICAM-1 inflammatory cytokine-related genes.
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Objective:To confirm the possible pathogen causing an outbreak of respiratory infectious disease in Beijing.Methods:Oropharyngeal swabs were collected from 14 cases with fever and detected by RT-PCR for respiratory viruses and bacteria. For specimens positive for adenoviruses, Fiber, Hexon and Penton gene fragments were amplified with specific primers and sequenced. BLAST and phylogenetic tree were used for sequence analysis.Results:All of the 14 specimens were adenovirus-positive. BLAST analysis of the sequences of Fiber, hexon and Penton genes showed that the 14 cases were all caused by adenovirus 3. The phylogenic tree analysis indicated that this adenovirus was closely related to an adenovirus of 3a51 genotype (GenBank No: KF268123) isolated in the USA in 2007.Conclusions:Human adenovirus genotype 3a51 caused this outbreak of respiratory infectious disease in Beijing.
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Objective:To investigate the causes of immune failure in the population with high vaccination rate of measles and rubella vaccine in Beijing by detecting the IgG antibody affinity in suspected cases of measles and rubella.Methods:Serum samples of 276 suspected cases of measles and rubella were tested for IgM and IgG antibodies by enzyme-linked immunosorbent assay (ELISA). The affinity of IgG antibody was detected, and the relative affinity index was calculated.Results:Among the 276 suspected cases, 104 were measles and 108 were rubella. Six measles cases had vaccination history and were caused by primary immunization failure ( n=3) and secondary immunization failure ( n=3). Twelve rubella cases had vaccination history and were due to primary immunization failure ( n=4) and secondary immunization failure ( n=8). Specific high-affinity antibodies were detected in nine measles cases and seven rubella cases without vaccination history, which indicated that these cases were reinfected. In the cases without measles or rubella, other pathogenic infections including mixed infections were detected, which were mainly caused by EB virus. Conclusions:Both primary and secondary immunization failure occurred in the population with immunization history. Reinfection was found in the patients who had not received vaccination against measles or rubella. Other pathogenic infections were existed among the cases without measles or rubella. Thus, misdiagnosis was responsible for the increased proportion of measles and rubella patients with immunization history in suspected cases in recent years. Full-course vaccination was conducive to produce high-affinity antibodies against measles and rubella. A supplementary vaccination campaign should be launched to consolidate the immune barrier against measles and rubella in key population or high-risk population, aiming to block the circulation of measles virus and achieve the goal of eliminating measles.
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OBJECTIVE@#To assess the performance of non-invasive prenatal testing (NIPT) for the detection of fetal chromosomal aneuploidies and its value for the prevention of birth defects.@*METHODS@#In total 28 033 pregnant women underwent NIPT test. The results were compared with that of amniotic fluid and cord blood chromosomal karyotyping analysis. A few cases were verified by array comparative genome hybridization (aCGH). All pregnant women and their fetuses were followed up until after birth.@*RESULTS@#NIPT has indicated a high risk for fetal chromosomal aneuploidies in 186 cases (0.66%), among which 101 (67.33%) were confirmed as 21, 18 and 13 trisomies by invasive prenatal diagnosis, which yielded a diagnostic rate of 86.52%, 50.00% and 19.05%, respectively. The diagnostic rates were 81.28%, 67.85%, 62.79% and 76.00% respectively for those ≥40, ≥35, 25 to 34, and <25. And the diagnostic rates were 65.91%, 60.78%, 71.79% and 80.00% for those over 35, with high risk by prenatal screening, critical risk by prenatal screening and ultrasound abnormality, respectively.@*CONCLUSION@#The NIPT is effective for screening common chromosomal aneuploidies and preventing births of neonates with trisomy 21, trisomy 18 and trisomy 13.
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Objective To explore the clinical manifestations, treatment and outcomes of patients with c. 482G>A ( p. R161Q ) variant of MMACHC gene in cblC type methylmalonic acidemia ( MMA ) . Methods The clinical manifestations, mass spectrometry results, genotypes, treatment and outcomes of 75 patients with cblC type MMAcarryingc.482G>A(p.R161Q)variantwereretrospectivelyanalyzed.Results Ofthe75patients,57(76%) were from newborn screening and one of them had an onset. Among the rest 18 unscreened patients, 2 were diagnosed after their full sisters' or brothers' diagnosis, the others were clinical patients. There were 17 clinical patients, with the medium age of onset 12 years old (10 days~26 years old). 12 late onset patients (70.6%) presented with poor academic performance, memory loss, poor expression, and decreased exercise capacity, while 5 early onset patients (29.4%) presented with convulsion and delay of development. All patients were vitamin B12-responsive. The levels of blood propionylcarnitine, the ratio of propionylcarnitine to acetylcarnitine, urinary methylmalonic acid and methyldecanoic acid, and plasma homocysteine were significantly decreased after treatment (P< 0.01). All patients diagnosed from newborn screening had normal development. However, only 3 clinical patients had a rather normal outcomes and the others remained different levels of intelligence and ( or ) motor dysfunction after treatment. Conclusion The c.482G>A ( p. R161Q) variant of MMACHC gene is associated with late onset cblC type MMA. Patients with this variant have a better response to hydroxycobalamin than other variants. The outcome of patients diagnosed from the newborn screening is good. When symptoms occur, the disability rate is often high. Therefore, newborn screening is a recommended method to prevent this disease.
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Objective@#To investigate the effect of pseudodeficiency alleles on the newborn screening of glycogen storage disease type Ⅱ(GSDⅡ) by using afluorometric enzymatic assay to determine acid α-glucosidase (GAA) activity in dried blood spot (DBS).@*Methods@#A total of 30 507 newborns′ DBSs, obtained from Newborn Screening Center of Xinhua Hospital Shanghai Jiao Tong University School of Medicine from May to December 2017, were screened for GSD Ⅱ by fluorometric enzymatic assay of GAA activity. The suspected positive DBSs after the first and second screening were directly analyzed by Sanger sequencing of GAA to confirm the diagnosis. Retrospective analysis of 3 172 controls without GSDⅡand 36 GSD Ⅱ patients were conducted to investigate the carrier status of pseudodeficiency alleles. Statistical analysis of frequency of pseudodeficiency alleles were carried out by Chi-square test or Fisher exact probability test.@*Results@#GAA activity of 30 507 newborns showed a positively skewed distribution.Twenty-nine cases of newborns, suspected to be GSDⅡwere confirmed to be normal with genetic analysis of the original DBSs. Among the 29 suspected positive cases, 24 cases were homozygous for pseudodeficiency alleles c.[1726A/A; 2065A/A], and the other 5 cases were c.[1726G/A; 2065G/A] heterozygote. The frequency of c.1726G>Ahomozygote in 3 172 non-GSD Ⅱcontrols was 2.08% (66/3 172), and c.1726G>A homozygote occurred in allelic conjunction with c.2065G>Ahomozygote. Frequency of c.[1726A; 2065A] haplotype in 3 172 controls was 3.2%(206/6 344). Frequency of c.[1726A/A; 2065A/A] homozygote in 36 GSDⅡpatients (16.67%, 6/36) was significantly higher than that in non-GSD Ⅱcontrols(2.08%, 66/3 172) (χ2=34.517, P<0.001).@*Conclusions@#Pseudodeficiency alleles show a high frequency in Chinese, which leads to a high false positive rate in the newborns screening of GSDⅡ.The afterword genetic analysis of the original DBS after the GAA activity screening could reduce the effect of pseudodeficiency alleles on the newborns screening of GSDⅡ.
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Objective@#To investigate the clinical outcome of modified thoracic umbilical flap, spanning chest and abdomen, in repairing large soft-tissue defect of limbs.@*Methods@#From April 2012 to March 2017, 7 patients with large soft-tissue defects of limbs were admitted in the Department of Traumatic Osteopathic, Yidu Central Hospital of Weifang. The patients include 5 males and 2 females, aged from 29 to 51 years, with the mean age of 43 years. Four patients had upper limb soft-tissue defect and 3 patients were lower limb. All limbs large soft-tissue defects were treated by ultra-long thoracic umbilical flaps, spanning chest and abdomen. Epigastric artery and intercostal arteries or lateral thoracic artery were included in the flap to provide double blood supply with only one vascular anastomosis.@*Results@#All 7 flaps(30 cm×9 cm-45 cm×13 cm) survived. The followed-up period was 3 months to 1 years. There was no necrosis or infection in tendon and bone observed. The texture of flaps in 5 patients were similar to surrounding skin, or slightly thickened by 2-3 mm. One patient had slightly bloated flap due to obesity, but had no effect on limb function. All patients were satisfied with the outcome.@*Conclusions@#Modified thoracic umbilical flap is an reasonable design for the repairment of large soft-tissue defect of limbs, and easily to carry out.
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Objective@#To investigate the effects of three-dimensional digital technology (3D-CTA) in repairing wounds of the limb with anterolateral thigh perforator flap.@*Methods@#From April 2014 to June 2017, 12 patients with extensive skin and soft tissue defects on extremities were selected from the Yidu Central Hospital of Weifang. Twelve patients were performed anterior femoral perforator flaps. There were 9 males and 3 females, aged from 23 to 52 years old, with the mean age of 32 years. The defects were 8 cm×3 cm to 25 cm×9 cm in size, and all of them were accompanied by bone and/or muscle exposure. Preoperative CT scan of the donor site of the free flap used to achieve the three-dimensional images of arterial blood area, in order to determine the origin, direction, classification, length, diameter and the position of pedicle perforator of the anterolateral thigh perforator flap by 3D-CTA.According to the preoperative condition of lateral circumflex femoral artery, the perforator flaps of anterolateral femoral artery on the contralateral or ipsilateral side were designed to repair the wound.@*Results@#Twelve anterolateral thigh perforator flaps have been transferred using above methods. All the flaps survived well and the donor site was directly closed.All patients were followed up for 1-6 months (mean 3 months). The appearance of flaps was satisfactory. The diameter and location of the perforator artery were measured using pre-operative digital angiography, as well as the actual value of perforator artery. Preoperative digital examination was consistent with the type of perforator found during the operation, with an accuracy of 100%.@*Conclusions@#For the soft tissue reconstruction by anterolateral thigh perforator flaps, preoperative digitization technology can identify the diameter, the type and origin of vessels, optimize the operation plan, reduce the difficulty of flap design, and reduce the risk of operation.
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Objective To investigate the effect of pseudodeficiency alleles on the newborn screening of glycogen storage disease typeⅡ(GSDⅡ) by using afluorometric enzymatic assay to determine acidα-glucosidase (GAA) activity in dried blood spot (DBS). Methods A total of 30507 newborns' DBSs, obtained from Newborn Screening Center of Xinhua Hospital Shanghai Jiao Tong University School of Medicine from May to December 2017, were screened for GSDⅡby fluorometric enzymatic assay of GAA activity. The suspected positive DBSs after the first and second screening were directly analyzed by Sanger sequencing of GAA to confirm the diagnosis. Retrospective analysis of 3172 controls without GSDⅡand 36 GSDⅡpatients were conducted to investigate the carrier status of pseudodeficiency alleles. Statistical analysis of frequency of pseudodeficiency alleles were carried out by Chi-square test or Fisher exact probability test. Results GAA activity of 30507 newborns showed a positively skewed distribution. Twenty-nine cases of newborns, suspected to be GSDⅡwere confirmed to be normal with genetic analysis of the original DBSs. Among the 29 suspected positive cases, 24 cases were homozygous for pseudodeficiency alleles c. [1726A/A; 2065A/A], and the other 5 cases were c. [1726G/A; 2065G/A] heterozygote. The frequency of c. 1726G>Ahomozygote in 3172 non-GSDⅡcontrols was 2.08%(66/3172), and c. 1726G>A homozygote occurred in allelic conjunction with c. 2065G>Ahomozygote. Frequency of c. [1726A; 2065A] haplotype in 3172 controls was 3.2%(206/6344). Frequency of c. [1726A/A;2065A/A] homozygote in 36 GSDⅡpatients (16.67%, 6/36) was significantly higher than that in non-GSDⅡcontrols(2.08%, 66/3172) (χ2=34.517, P<0.001). Conclusions Pseudodeficiency alleles show a high frequency in Chinese, which leads to a high false positive rate in the newborns screening of GSDⅡ.The afterword genetic analysis of the original DBS after the GAA activity screening could reduce the effect of pseudodeficiency alleles on the newborns screening of GSDⅡ.
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OBJECTIVE: To analyze the relationship between the blood biochemical indexes and the local muscle fatigue of operators with local muscle fatigue caused by moderate-load repetitive manual lifting. METHODS: Five healthy male volunteers were selected as the research subjects. They repeatedly performed simulated manual lifting operation for four periods(T1-T4), 10 minutes per period. Each period was suspended for 3 minutes to be accessed for the rating of perceived exertion(RPE) score of local muscle. Meanwhile, their venous blood was collected to be detected for serum calcium ion, creatine kinase, cartilage oligomeric matrix protein(COMP), ammonia, lactic acid, lactate dehydrogenase(LDH), C-reactive protein(CRP), and collagen type Ⅱ C terminal telopeptide(CTX-Ⅱ). RESULTS: The RPE score and serum creatine kinase level of the subjects increased with the increasing of lifting time(P<0.05). Serum calcium ion levels in time periods T2, T3 and T4 were higher than that in T1(P<0.05). Serum COMP levels in T3 and T4 were higher than that in T1(P<0.05). The levels of ammonia,lactic acid, LDH, CRP and CTX-Ⅱ in each time period showed no statistical significance(P>0.05). Serum creatine kinase, calcium ion and LDH levels were positively correlated with RPE score(correlation coefficient were 0.840, 0.512, 0.741, respectively, P<0.01). CONCLUSION: Serum creatine kinase is a sensitive, effective and objective index reflecting muscle fatigue, which is suitable for evaluating the fatigue process of moderate-load repetitive activities. Serum calcium ion has a good correlation with muscle fatigue, and serum COMP can reflect muscle fatigue to some extent.
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Objective To investigate the characteristics of glycogen storage disease type IV (GSD IV) clinically, in laboratory tests and in gene mutation. Methods The clinical manifestations, biochemical indexes, activity of chitotriosidase, and the follow-up of the treatment in 5 cases of GSD IV were analyzed. Results Five patients (3 boys and 2 girls) aged 4 months - 5 years presented hepatosplenomegaly and elevated liver enzyme levels for 2 months at hospital visit. Two patients had motor developmental delay and weakness but their creatine kinase (CK) level were normal. Glycogen storage and liver fibrosis were observed in the liver biopsy in 4 patients. Target sequencing found that all 5 children carried the complex heterozygous mutation of the GBE1 gene with 2 reported mutations(p.R515C,p.R524Q)and 7 novel mutations.The novel mutation contains 5 missense mutations (p.I460T, p.F76S, p.F538V, p.L650R, p.W455R), one insertion mutations (c.141_142insGCGC), and one large fragment deletion (exon 3-7). Therefore, diagnosis of liver type of GSD IV was confirmed in those children. Two patients died of liver cirrhosis. The liver transplantation was performed due to liver cirrhosis in one patient whose chitotriosidase activity increased obviously before transplantation and decreased significantly after the transplantation and liver enzyme levels were returned to normal 4 months after transplantation. In the other two patients their growth and liver enzyme levels were normal;one had not received special treatments while the other was treated with raw corn starch and level of chitotriosidase was normal. Conclusions The clinical manifestations of GSD IV are heterogeneous. Target sequencing can be used for fast and noninvasive diagnosis of GSD IV. Chitotriosidase activity is useful in the prognosis assessment for GSD IV.
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Objective@#To investigate the clinical application of repairing the large-area skin defect of legs with medial-lower-leg-flap with a healthy limb cross-leg bridging thoracic umbilical flap.@*Methods@#16 cases with a large area of soft tissue defects caused by severe trauma were included in this study. The vascular pedicles of free thoracic umbilical flap were anastomosed with the opposite posterior tibial artery and vein, and the pedicle skin tubes were made and amputated 4 weeks after surgery.Observation of postoperative flap include survival situation, shape, color, elastic, scar contracture, and dysfunction.@*Results@#16 cases of postoperative all flaps survived.In 1 case pain occurred 10 hours after the operation and led to arterial crisis, which was relieved with analgesia.There were no vascular crisis in other 15 eases. Followed up for 2-24 months, all the flaps survived with good color, elasticity and sensory recovery. There was no apparent stiffness in double knee and ankle joint.@*Conclusions@#For the injured limbs impossible to be repaired with local vascular pedicle, routine local transfer of skin flap or cross leg skin flap, the bridge cross anastomosis of free flap graft may be an ideal surgical treatment.
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Objective@#To compare the short-term effects of FOLFOXIRI and SOX chemotherapy regimens in treatment of advanced colorectal cancer.@*Methods@#A retrospective study was conducted. The clinical data of 71 patients with advanced colorectal cancer admitted from January 2013 to January 2015 in Jingmen Second People's Hospital were analyzed. According to the different chemotherapy regimens, the patients were divided into two groups. The SOX group was treated with SOX chemotherapy regimen (oxaliplatin+S-1), and the FOLFOXIRI group was treated with FOLFOXIRI chemotherapy regimen (oxaliplatin + irinotecan + 5-fluorouracil). After 4 courses of treatment, the clinical efficacy and adverse reactions were compared between the two groups. The patients were followed up for 6-24 months, and the survival of the two groups was compared by using Kaplan-Meier method.@*Results@#After 4 courses of treatment, in the FOLFOXIRI group, 16 cases were partial remission, 11 cases were stable disease, 10 cases were disease progression; in the SOX group, 15 cases were partial remission, 10 cases were stable disease, 9 cases were disease progression; there was no significant difference in the clinical efficacy between the two groups (Z = 0.069, P > 0.05). In the FOLFOXIRI group, the objective response rate was 43.24% (16/37), the clinical control rate was 72.97% (27/37); in the SOX group, the objective response rate was 44.12% (15/34), the clinical control rate was 73.53% (25/34); there were no significant differences between the two groups (χ 2 values were 0.005 and 0.003, both P > 0.05). In the FOLFOXIRI group, the 1-, 2-year survival rates were 83.78% (31/37) and 29.73% (11/37); in the SOX group, the 1-, 2-year survival rates were 85.29% (29/34) and 38.24% (13/34); there were no significant differences between the two groups (χ 2 values were 0.031 and 0.573, both P > 0.05). In the FOLFOXIRI group, the median progression free survival time was 9.4 months, and the median overall survival time was 19.2 months; in the SOX group, the median progression free survival time was 11.6 months, and the median overall survival time was 20.3 months; there were no significant differences between the two groups(χ 2 values were 0.85 and 0.573, both P > 0.05). The incidence rates of leukocyte depletion and diarrhea of FOLFOXIRI group were significantly higher than those of SOX group (Z values were 2.252 and 2.214, both P < 0.05).@*Conclusion@#FOLFOXIRI regimen has similar efficacy with SOX regimen in treatment of advanced colorectal cancer, but SOX regimen is more tolerant.