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ObjectiveTo investigate the clinical appropriateness and application value of the peroxidase （POD） method for the detection of unbound bilirubin （UB） in neonatal serum. MethodsHydrogen peroxide （0.33 mol/L） and three different final concentrations （0.019， 0.038， 0.075 μg/mL） of horseradish peroxidase （HRP） were added to standard bilirubin solution （1， 2， 3 μmol/L） to obtain a standardized HRP primary rate constant Kp. Then 25 μL of neonatal serum was diluted by 41.6 fold， and measured with 2.4 and 4.8 μg/mL HRP at 37 ℃ under the dark， to determine the UB concentration. The accuracy， precision， and stability of the methodology were validated. The clinical characteristics of 33 jaundiced neonates were collected， including total serum bilirubin （TSB）， indirect bilirubin （IDB）， albumin （ALB）， bilirubin to albumin molar ratio （BAMR）， etc. The experimental data were analyzed by Graphpad Prism 8.0. ResultsA standardized Kp of （7.20±1.08） mL·μg-1·min-1 was determined at pH 7.4±0.2， 37 ℃ in the dark. The HRP activity and UB concentrations remained stable at -20 ℃ for 3 weeks and a week， respectively. The mean intra-day and inter-day coefficients of variation of the serum samples with different UB concentrations were less than 10%. In this study， the UB concentrations in 33 jaundiced neonates （gestational age ≥35 weeks） were measured by the POD method in the range of （0.32～1.20） μg/dL， which was positively correlated with TSB， IDB and BAMR. Of the five infants whose UB concentrations measured more than 1 μg/dL， three received intensive phototherapy （60%）. ConclusionsThe POD method combined with a standard equipment spectrophotometer to detect serum UB concentrations in neonates is easy to operate， rapid to detect， and low cost. This method has good accuracy and precision， which is convenient for clinical implementation. Moreover， the measurement of serum UB may assist us in better management of neonatal jaundice in clinical practice.
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Objective To investigate the value of serum markers in the early diagnosis of liver cirrhosis with minimal hepatic encephalopathy (MHE). Methods A prospective analysis was performed for 81 patients who were hospitalized and treated in General Hospital of Ningxia Medical University from April 2020 to February 2022, and all these patients were diagnosed with hepatitis B cirrhosis based on clinical manifestation, laboratory examination, and radiological examination or liver biopsy. According to digital connection test A (NCT-A) and digital symbol test (DST), these patients were divided into simple cirrhosis group with 45 patients and MHE group with 36 patients. Related indices were measured, including liver function [alanine aminotransferase (ALT), aspartate aminotransferase (AST), gamma-glutamyl transpeptidase (GGT), alkaline phosphatase (ALP), and total bilirubin (TBil)], albumin, blood ammonia, cholinesterase, and prothrombin time. The independent samples t -test was used for comparison of normally distributed continuous data between two groups; the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups, and the Kruskal-Wallis H test was used for comparison between multiple groups; the chi-square test was used for comparison of categorical data between groups. The logistic regression analysis and the area under the ROC curve (AUC) were used to investigate the predictive factors for MHE. Results Compared with the simple cirrhosis group, the MHE group had a significant increase in NCT-A score ( Z =-7.110, P < 0.001) and a significant reduction in DST score ( t =12.223, P < 0.001). The univariate analysis showed that there were significant changes in AST, albumin, prothrombin time, cholinesterase, and blood ammonia in the patients with MHE ( Z =-2.319, -2.643, -1.982, -6.594, and -5.331, all P < 0.05), while the multivariate analysis showed that only cholinesterase and blood ammonia were significant predictive factors (all P < 0.05) and were correlated with Child-Pugh score (all P < 0.05). Cholinesterase, blood ammonia, and their combination had an AUC of 0.925, 0.845, and 0.941, respectively, in the diagnosis of MHE, with an optimal cut-off value of 2966, 60, and 0.513, respectively. Conclusion Blood ammonia, cholinesterase, and their combined measurement have a potential clinical value in the early diagnosis of liver cirrhosis with MHE.
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OBJECTIVE To study the toxic mechanism of Mahuang xixin fuzi decoction （MXF） on normal mice. METHODS Totally 48 SPF grade BABL/C mice were randomly divided into blank group， MXF low-dose， medium-dose and high-dose groups， with 12 mice in each group. MXF low-dose， medium-dose and high-dose groups were given drug intragastrically at the dose of 11.262， 33.786， 45.050 g/kg， respectively. Blank group was administered with equal volume of normal saline， once a day， for consecutive 7 d. The body weight， anal temperature and survival rate were recorded， organ index and serum biochemical factors were detected. After the last administration， fecal samples of mice were collected and detected by UHPLC-QE/MS. RESULTS Compared with blank group， the body weight was decreased significantly from the 3rd to the 5th day after administration in MXF medium-dose group， and from the 2nd to the 7th day after administration in MXF high-dose group significantly （P＜0.05）. There was no significant difference in anal temperature among the treatment groups； the average survival rates of MXF medium-dose and high-dose groups were 58.33% and 50.00%， respectively. Compared with blank group， there were significant difference in the indexes of spleen， lung， thymus， adrenal gland and creatine kinase in MXF low-dose， medium-dose and high-dose groups， the testis index in MXF low-dose and high-dose groups， the creatine kinase isoenzyme/creatine kinase ratio in MXF low-dose group， the α-hydroxybutyrate dehydrogenase， lactate dehydrogenase and alkaline phosphatase in MXF medium-dose group， the urine and cystatin C in MXF medium-dose and high-dose groups （P＜0.05）. The fecal metabonomic analysis showed that 19 biomarkers such as phenylpyruvate， L-tyrosine， phosphatidylcholine， glycerol 3-phosphate in MXF low-dose， medium-dose and high-dose groups were significantly different from those in the blank group. CONCLUSIONS When MXF reaches a certain dose， it will have adverse effects on the body weight， multiple organs and serum biochemical indicators of mice， thus showing a certain toxic effect. Its mechanism may be related to disrupting the intestinal flora metabolism， causing inflammatory reaction and immune disorders.
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Objective:To investigate the impact of initial recurrence site on the prognosis of patients with pancreatic cancer after radical operation.Methods:Clinical data of 172 patients who underwent radical resection of pancreatic cancer and were pathologically confirmed as pancreatic ductal adenocarcinoma in Ningbo University Affiliated Lihuili Hospital from January 2015 to June 2021 were analyzed retrospectively. According to the classification of the initial recurrence or metastasis after operation: no recurrence, local recurrence (residual pancreas, mesenteric vein, pancreaticoenterostomy surrounding tissue), liver metastasis, abdominal or retroperitoneum metastasis, multiple site recurrence and other pattern recurrence. The effect on prognosis was analyzed by COX risk ratio model, the overall survival and recurrence-free survival were calculated by Kaplan-Meier, and the survival curve was drawn. Log-rank test was used to compare the survival rate of different recurrence sites and different treatments after recurrence.Results:12 patients had local recurrence, 69 had liver metastasis, 25 had abdominal or retroperitoneal metastasis, 17 had multiple site recurrence, and 5 had other site recurrence and 44 had no recurrence. The median follow-up time was 15.5 months (3-69 months). The median overall survival was 19 months (95% CI 16.273-21.727). The 1- , 3- and 5-year postoperative cumulative survival rate was 71.0%, 27.8% and 20.2%, respectively. Univariate analysis showed that CA125, tumor size, lymph node metastasis, microvascular invasion, tumor differentiation degree, adjuvant chemotherapy, initial recurrence site were significantly correlated with overall survival (All P value <0.05). Multivariate analysis showed that CA125 ≥30 IU/ml ( OR=2.669, P=0.001), microvascular invasion ( OR=1.736, P=0.028), poor tumor differentiation ( OR=1.604, P=0.027), adjuvant chemotherapy ( OR=0.439, P<0.001), initial recurrence site (All P value <0.05) were the independent risk factors for overall survival. The median recurrence-free survival of 172 patients was 9 months (95% CI 7.075-10.925). Univariate analysis showed that CA125, tumor size, lymph node metastasis and microvascular invasion were significantly correlated with recurrence-free survival (All P value <0.05). Multivariate analysis showed that CA125 ( OR=1.640, P=0.026), tumor size ( OR=1.774, P=0.011) and microvascular invasion ( OR=1.563, P=0.034) were the independent risk factors for recurrence-free survival. After surgery, the median survival time of patients with local recurrence, other pattern recurrence, abdominal or retroperitoneal metastasis, multi-site recurrence and liver metastasis was 28, 22, 21, 15 and 14 months, respectively. Among them, the overall survival of patients with postoperative local recurrence was longest, which was significantly longer than that of patients with multi-site recurrence ( P=0.035) and liver metastasis ( P=0.007); the survival of patients with abdominal or retroperitoneal metastasis was also longer than that with liver metastasis ( P=0.005); and all the differences were statistically significant. In 128 patients with recurrence, the median overall survival of 26 patients without adjuvant therapy was 10 months (95% CI 6.877-13.123); the median overall survival of 68 patients with adjuvant chemotherapy was 15 months (95% CI 13.013-16.987); the median overall survival of 34 patients with comprehensive treatment of surgery and radiotherapy was 19 months (95% CI 15.100-22.900), which was significantly higher than the other two groups, and there were significant statistical differences among the three groups ( P<0.001). Conclusions:The initial recurrence site of pancreatic cancer after radical operation is an independent risk factor for overall survival. Compared with local recurrence and abdominal or retroperitoneal metastasis, patients with multi-site recurrence and liver metastasis have a poor prognosis. Comprehensive treatment after recurrence can significantly prolong the overall survival.
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Objective:To evaluate perirenal adipose tissue inflammation in obesity-related glomerulopathy induced by a high-fat diet in C57BL/6J mice and further explore its probable mechanism.Methods:Twelve 8-10-week-old male C57BL/6J mice were divided into normal diet group (ND, n=6) and high-fat diet group (HFD, n=6) using simple random sampling method. After 14 weeks, the blood and kidney tissue were sampled, and the pathological change in the kidney and perirenal adipose tissue was observed by hematoxylin-eosin, periodic acid-Schiff, and Masson staining. The mRNA expression of tumor necrosis factor-α (TNF-α), M1-type macrophage marker CD11c, interleukin (IL)-1β, monocyte chemotactic protein-1 (MCP-1), IL-10, transforming growth factor-β1, M2-type macrophage marker CD206 and fibronectin 1 in perirenal fat was detected by real-time fluorescence quantitative PCR. The expression of macrophages marker F4/80, CD68 and leukocyte common antigen (LCA) in the kidney and perirenal adipose tissue was detected by immunohistochemistry. Results:After 14 weeks of feeding, compared with mice in the ND group, the weight of mice in the HFD group was significantly higher [(35.83±1.19) g vs (24.06±0.37) g, P<0.05]. In the HFD group, perirenal adipocyte hyperplasia, accompanied by glomerular hyperplasia, mesangial matrix hyperplasia and renal interstitial fibrosis, and other pathological changes was observed (all P<0.05). The level of blood glucose, blood lipid, serum creatinine and blood urea nitrogen was also significantly higher (all P<0.05). The mRNA expression of TNF-α, CD11c, IL-1β and MCP-1 related to M1 macrophages in the perirenal adipose tissue was higher (all P<0.05), and immunohistochemistry showed that the expression of F4/80, CD68 and LCA in the perirenal adipose tissue was higher in HFD group (all P<0.05). The above results showed that the number of macrophages and inflammatory cells in the perirenal adipose tissue was significantly greater in the HFD group than those in the ND group. Pearson linear correlation analysis showed that the average perirenal fat area was positively correlated with macrophages number in perirenal adipose tissue, several morphological indexes such as glomerular cross-sectional area and renal function injury indexes such as blood urea nitrogen (all P<0.05). Conclusion:The C57BL/6J mice model of obesity-related glomerulopathy induced by a high-fat diet is successfully established, and the perirenal adipose tissue shows an obvious inflammatory response, with the macrophages significantly polarized mainly in the pro-inflammatory direction towards the M1-type macrophages.
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Objective:To study the clinical results of personalized surgical treatment for portal hypertension based on portal venous hemodynamics.Methods:A retrospective study was performed on patients with portal hypertension who underwent surgical treatment from January 2016 to December 2020 at the People’s Hospital of Ningxia Hui Autonomous Region and Wuhai People’s Hospital. Of 229 patients included into this study, there were 156 males and 73 females, with age of (4±11) years old. Portal vein CT and ultrasound doppler examination were performed preoperatively and portal vein manometry and ultrasound doppler examination were performed intraoperatively to evaluate portal venous hemodynamics. Based on the evaluation results, different surgical treatments were adopted. Postoperative complications and results of the operations were recorded. Long-term outcomes were evaluated by the rate of recurrence of gastroesophageal varices which was classified as disappearance, mild, moderate and severe according to endoscopic findings.Results:All the 229 patients completed the operations successfully. All together 13 operative treatments were used: (1) simple splenectomy ( n=11); (2) devascularization ( n=176), including 86 patients with splenectomy combined with extensive devascularization, 44 patients with splenectomy combined with selective devascularization and with preservation of paraesophageal veins, 39 patients with splenectomy combined with selective devascularization and reconstruction of spontaneous portosystemic shunt (34 patients with selective devascularization and reconstruction of spontaneous gastrorenal shunt and 5 patients with selective devascularization and reconstruction of spontaneous splenorenal shunt), 4 patients with secondary devascularization for variceal recurrence and 3 patients with devascularization and preservation of spleen; (3) shunt procedures were performed in 42 patients including 21 patients with splenectomy combined with coronary renal shunt, 11 patients with splenectomy combined with coronary-caval shunt, 6 patients with distal splenorenal shunt, 2 patients with proximal splenorenal shunt combined with devascularization, 1 patient with right gastroepiploic vein-inferior vena cava shunt and 1 patient with trans-inferior mesenteric vein coronary renal shunt. There were no operative deaths. The Clavien-Dindo grade 3 and above postoperative complication rate was 6.6% (15/229). Two hundred and eight patients were followed up for 6-60 months, with a median follow-up of 38 months. Severe recurrent varices were found in 21 patients (10.1%, 21/208), with 5 patients (2.4%, 5/208) presented with variceal bleeding. The rate of severe varices after selective shunting and selective devascularization by reconstructing the spontaneous portosystemic shunt (4.2%, 3/72) was significantly lower than that of the other devascularization procedures (13.7%, 17/124)(χ 2=4.53, P=0.033). Conclusion:Better clinical results were achieved by selecting the appropriate surgical procedures based on portal venous hemodynamic characteristics of patients. Selective shunting and selective devascularization by reconstructing the spontaneous portosystemic shunts significantly reduced the recurrence rate of severe varies.
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Objective:To analyse the risk factors of biliary leakage after surgical resection in patients with perihilar cholangiocarcinoma (PHCC).Methods:The medical data on 179 patients who underwent surgical resection for PHCC at the Department of Hepatopancreatobiliary Surgery, Ningbo Medical Centre Lihuili Hospital, Ningbo University from April 2000 to April 2020 were collected, and 160 patients were finally enrolled into this study. There were 86 males and 74 females, aged (63.4±10.8) years. The 44 patients with class B biliary leakage and the 5 patients with class C biliary leakage were classified into the biliary leakage group, while the remaining 111 patients were classified into the control group. Risk factors of biliary leakage were analysed by univariate and multivariate logistic regression analyses.Results:Operation time ≥360 min, resection and reconstruction of hepatic hilar vessels on the preserved side of liver and number of bile duct openings of >3 in remnant liver were significantly higher in the biliary leakage than the control group (all P<0.05). Multivariate analysis showed that resection and reconstruction of hepatic hilar vessels on the preserved side ( OR=2.322, 95% CI: 1.078-5.002, P=0.028) and 3 or more bile duct openings in the remnant liver ( OR=2.656, 95% CI: 1.198-5.892, P=0.016) were significantly associated with biliary leakage. Conclusion:Resection and reconstruction of hepatic hilar vessels on the preserved side of liver and 3 or more bile duct openings in remnant liver were independent risk factors for biliary leakage after PHCC resection.
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Objective:To compare the outcomes of watch&wait (W&W) strategy in patients with locally advanced rectal cancer who achieved complete clinical response (cCR) after neoadjuvant therapy, with those who obtained pathological complete response (pCR) after total mesorectal excision (TME).Methods:This is a retrospective cohort analysis study. Patients histologically proven with locally advanced rectal adenocarcinoma (stage Ⅱ-Ⅲ) who had received neoadjuvant chemotherapy were eligible between January 2014 and December 2019. In whom we included patients who had cCR offered management with W&W strategy after completing neoadjuvant therapy and follow-up ≥1 year (W&W group), and patients who did not have cCR but pCR after TME (pCR group). The primary endpoints were 3-year and 5-year overall survival (OS), colostomy-free survival (CFS), disease-free survival (DFS), non-local regrowth disease-free survival (NR-DFS), and organ preservation rate. Kaplan-Meier analysis was used for survival analysis and log-rank test was performed. For comparative analysis, we also derived one-to-one paired cohorts of W&W versus pCR using propensity-score matching (PSM).Results:A total of 118 patients were enrolled, 49 of whom had cCR and managed by W&W, 69 had pCR, with a median follow-up period of 49.5 months (12.1-79.9 months). No difference was observed in the 3-year OS (97.1% vs. 96.7%) and 5-year OS (93.8% vs. 90.9%, P=0.696) between the W&W and pCR groups. Patients managed by W&W had significantly better 3-year and 5-year CFS (89.1% vs. 43.5%, P<0.001), better 3-year DFS (83.6% vs. 97.0%) and 5-year DFS (83.6% vs. 91.2%, P=0.047) compared with those achieving pCR. The 3-year NR-DFS (95.9% vs. 97.0%) and 5-year NR-DFS (92.8% vs. 97.0%, P=0.407) did not significantly differ between the W&W and pCR groups. Local regeneration occurred in six cases, and 87.7% of patients had successful rectum preservation in the W&W group. In the PSM analysis (34 patients in each group), absolutely better CFS (90.1% vs. 26.5%, P<0.001) was noted in the W&W group. A median interval of 17.5 weeks was observed for achieving cCR, while only 23.9% of patients achieved cCR within 5 to 12 weeks from radiation completion. Patients with short-course sequential chemoradiotherapy achieved cCR significantly later when compared with those with long-course concurrent chemoradiotherapy (19.0 vs. 9.8 weeks, P<0.001). Conclusions:The oncological outcomes of W&W strategy in patients with locally advanced rectal cancer are safe and effective, significantly improving the quality of life. Longer interval for cCR evaluation may improve rectal organ preservation rate.
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Objective:To provide the calculation method for evaluating and designing the volume of nuclear medicine intermittent decay pool, so as to provide technical reference for medical institutions, environmental impact assessment institutions and management departments, etc.Methods:By constructing a mathematical model and deriving the calculation formula, the relationship between the volume of intermittent decay pool and the radioactivity level of wastewater was established.Results:There were differences in the number of diagnosis and treatment of patients, the amount of nuclide used and the amount of waste water produced in the nuclear medicine department at different medical institutions, so the evaluation and design of the intermittent decay pool were also different as a result . But the result should meet the relevant requirements of the standards GB 18871-2002 and HJ 1188-2021: the total activity discharged every month ≤10 ALImin, and the activity discharged once≤1 ALImin; gross alpha activity ≤1 Bq/L, gross β activity ≤10 Bq/L, 131I activity concentration ≤10 Bq/L; the temporary storage time after filled with radioactive wastewater ≥10 times longest half-life, and the temporary storage time of 131I in patient waste water ≥180 d. Conclusions:The calculation method provided in this paper can be used to evaluate and design the volume of intermittent decay pool in nuclear medicine departments.
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Objective To explore the absorbed dose to the common tissues of subjects in four clinical CT scanning modes and the spatial distribution of the radiation field in chest scanning, in order to provide a basis for the radiation protection of subjects and the space in the machine room. Methods A thermoluminescence detector (TLD) was used to measure the absorbed doses to the eye lens, thyroid gland, gonad, chest and abdominal skins of the anthropomorphic phantom in four CT scanning modes. The TLD was used to monitor the air kerma at different positions from the CT diagnostic table during chest spiral scanning. Results The absorbed doses to the eye lens, thyroid gland, gonad, chest and abdominal skins of the anthropomorphic phantom in four CT scanning modes were 0.040-64.818 mGy, 0.154-10.155 mGy, 0.028-0.154 mGy, 0.443-17.141 mGy, and 0.093-14.346 mGy, respectively. The maximum air kerma value of the space radiation field during chest scanning was 0.049 mGy, and the farther the distance from the CT tube, the smaller the value. Conclusion The absorbed doses to the common tissues of subjects examined by the four CT scanning modes generally do not exceed the threshold doses. The dose received by the companion of the subject during a single chest CT scan was small. In order to minimize radiation hazards, shielding measures can be taken in CT scanning to reduce the absorbed doses to the tissues of the subject, and the companion of the subject should appropriately increase the distance from the tube and the diagnostic table.
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@#<b>Objective</b> To explore the quality control results of Digital Diagnost digital radiography (DR), and also to analyze the differences in signal transfer characteristics (STP) of DR from different manufacturers, in order to provide a reference for quality control of testers and daily supervision of administrative staff. <b>Methods</b> According to WS 76—2020 “Specification for testing of quality control in medical X-ray diagnostic equipment”, the test items such as automatic exposure control (AEC) repeatability, AEC response, detector dose indication (DDI), STP, high-contrast resolution, and low-contrast resolution of Digital Diagnost DR were qualitatively controlled, and several common DRs on the market were selected to analyze their STP functional relationships. <b>Results</b> The baseline values of DDI, high-contrast resolution, and low-contrast resolution of Digital Diagnost DR were 19733, 2.8 Lp/mm, and H5 of image central pixel value, respectively; the quality control results of other test items met the requirements of WS 76—2020. The STP functional relationships of common DRs were mainly linear and logarithmic, but different models of DR from the same manufacturer might also have different STP functional relationships. <b>Conclusion</b> When testing some special test items of DR, attention should be paid to the influence of a variety of factors, while refining the test steps and condition settings for the test items. The simulation should be performed in accordance with the functional relationship provided by the manufacturer when analyzing the STP.
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Phenylalanine ammonia lyase (PAL) can catalyze L-phenylalanine to produce trans-cinnamic acid, which is widely used in the fields of pharmacy, food and agriculture. In particular, phenylalanine ammonia lyase from Anabaena variabilis (AvPAL) is the only protein drug for the treatment of phenylketonuria. However, the poor activity and low stability limit the application in industry of AvPAL. In this study, the key amino acids of substrate-binding cavity in AvPAL were identified by screening the single site saturation mutagenesis library. Subsequently, the impact of replacing M222 with the additional 19 amino acids on activity was also evaluated by site-directed mutagenesis. It was found that the kcat values of mutants M222L and M222V were 90% and 60% higher than that of AvPAL, and the kcat/Km was 1.4 and 1.5 times as that of AvPAL. Molecular docking results revealed that the higher activity of M222L and M222V may be due to the increase of hydrophobicity favorable for the substrate-binding cavity. This study is important for elucidating the structure-function relationship of AvPAL.
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Objective:To detect gene mutations in 3 Chinese families with congenital ichthyosiform erythroderma.Methods:Exome sequencing of peripheral blood DNA was performed for 3 probands clinically diagnosed with congenital ichthyosiform erythroderma by using a gene panel targeting hereditary skin diseases to identify mutation sites. Primers were designed according to the mutation sites for PCR amplification, and Sanger sequencing was performed to verify the mutations in probands and other family members in order to identify the cause of the disease.Results:The probands 1 and 2 presented with generalized skin dryness and scaling, and polygonal dark brown scales on the extensor aspect of the lower limbs; the proband 3 mainly presented with well-circumscribed erythema, papules and scales scattered on the trunk and extremities. All probands denied family history of similar diseases. Genetic testing showed that the proband 1 carried compound heterozygous mutations c.100G>A and c.377G>A in the PNPLA1 gene, which were inherited from her mother and father respectively; the proband 2 carried compound heterozygous mutations c.320T>A and c.434T>C in the PNPLA1 gene, which were inherited from her mother and father respectively; a homozygous mutation c.1300delG was identified in the PNPLA1 gene in the proband 3. The mutations co-segregated with the disease phenotypes in the two families with compound heterozygous mutations. Among the 5 identified mutations, the two missense mutations (c.377G>A and c.320T>A) were firstly reported.Conclusion:Biallelic mutations in the PNPLA1 gene are the causative mutations responsible for autosomal recessive congenital ichthyosis in the three probands, and the newly reported mutations expand the mutation spectrum in the disease.
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Objective:To detect causative gene mutations in 1 patient with ADULT syndrome mainly presenting with ectodermal dysplasia.Methods:Clinical data were collected from a proband with ADULT syndrome, and genomic DNA was extracted from peripheral blood samples obtained from the proband and his parents. Exome sequencing was performed in the proband by using targeted panels for hereditary skin diseases to determine mutation sites, and then the candidate mutation sites were verified by Sanger sequencing in the family members.Results:The 22-year-old male patient presented with sparse and thin hair, scattered facial freckles, missing permanent teeth, cloudy corneas, palmoplantar erythema and keratosis, nail/toenail dystrophy, and nipple dysplasia. Genetic testing of the peripheral blood genomic DNA of the proband revealed a heterozygous mutation (c.1040G>T) in exon 8 of the TP63 gene, resulting in an amino acid change at position 347 (p.C347F) . The mutation was not detected in his father or mother with normal phenotypes, suggesting the cosegregation of the gene mutation with the disease phenotype in the family.Conclusion:The de novo heterozygous missense mutation in the TP63 gene may be the causative mutation in the proband, and combined with clinical manifestations, the proband was diagnosed with ADULT syndrome without finger/toe deformities.
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Objective:To analyze the clinical outcomes of minimally invasive transforaminal lumbar interbody fusion (MIS-TLIF) in the Zista channel assisted by navigation for the treatment of lumbar spinal stenosis.Methods:The medical records of 156 patients who underwent surgery for lumbar spinal stenosis from January 2017 to January 2019 were retrospectively analyzed. The patients were divided into minimally invasive group, navigation open group and open group according to surgical method and navigation usage. 67 cases were treated with MIS-TLIF assisted by navigation in minimally invasive group. In the navigation open group, 31 cases underwent open TLIF surgery assisted by navigation, 58 cases were treated with open TLIF. The database was compared among the three groups including intraoperative blood loss, operative time, postoperative drainage, postoperative hospitalization time and complications. Evaluated the internal fixation and fusion according to CT, assessed the surgical results according to VAS, ODI and SF-36. The clinical effects were evaluated by MacNab scores at the last follow-up.Results:The amount of intraoperative blood loss in the minimally invasive group 116.39±25.88 ml was less than that in the navigation open group 293.94±61.67 ml and the open group 396.97±92.58 ml, and the difference was statistically significant ( F=296.01, P<0.001). The intraoperative blood loss in the navigation open group was less than that in the open group. The postoperative drainage in the minimally invasive group 80.55±27.29 ml, was less than that in the navigation open group 299.94±50.32 ml and the open group 304.86±84.34 ml, and the difference was statistically significant ( F=273.14, P<0.001). The postoperative hospitalization time in the minimally invasive group 3.42±1.00 d was less than that in the navigation open group 7.16±1.39 d and the open group 7.31±1.69 d, and the difference was statistically significant ( F=154.49, P<0.001). There was no significant difference in the operation time ( F=0.15, P=0.859). At 2 weeks and 3 months after operation, the VAS score of low back pain in the open navigation group (3.84±0.82, 1.90±0.91) and the open group (3.67±0.92, 1.91±0.90) and ODI in the navigation open group (34.74%±11.66%, 28.68%±8.19%) and the open group (32.21%±10.66%, 27.17%±9.59%) were lower than those in the minimally invasive group (1.70±0.92, 0.96±0.73), (18.33%±7.43%, 19.15%±7.96%), and the difference were statistically significant [( F=96.63, P<0.001; F=25.12, P<0.001), ( F=45.59, P<0.001; F=18.99, P<0.001)]. The SF-36 score of the minimally invasive group 61.48±9.50 at the last follow-up was higher than that of the navigation open group 52.51±6.99 and the open group 53.48±7.66, and the difference was statistically significant ( F=18.97, P<0.001). In the same group, the VAS score, ODI score and SF-36 score at each follow-up time after surgery were statistical differences compared with those before surgery ( P<0.05). Postoperative follow-up CT showed that the fusion rate of the minimally invasive group was 94.0% (63/67), the navigation open group was 93.5% (29/31), the open group was 93.1% (54/58), and the difference between the three groups was not statistically significant (χ 2=0.05, P=0.978). The success rate and accuracy of one-time nail placement in the minimally invasive group and the navigation open group were higher than those in the open group, the difference was statistically significant (χ 2=17.17, P<0.001; χ 2=15.49, P=0.040). Dural rupture occurred in 1 patient in the minimally invasive group and 2 patients in the open group. The drainage and condition changes were closely observed after surgery. All patients were successfully extubated after surgery without complaining of other discomfort. One patient in the minimally invasive group had endplate destruction and mild intervertebral collapse during postoperative follow-up. There was 1 case of incisional fat liquefaction in each of the navigation open group and the open group. Subgroup analysis of the results of the three groups were roughly the same as the overall results. Conclusion:MIS-TLIF in the Zista channel assisted by navigation is a safe, effective, and worthy of promotion minimally invasive lumbar fusion surgery with the advantages of less trauma and faster recovery in the treatment of different types of lumbar spinal stenosis.
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Objective:To investigate the effects of parallel reconstruction with titanium cable fixation and concentric reconstruction with plate fixation in the reconstruction of femoral shaft continuity after resection of malignant tumor.Methods:From September 2013 to December 2017, the data of 11 consecutive patients with thigh malignancies and related complications were retrospectively analyzed, including 10 males and 1 female. The mean age of the 11 patients was 27.1±15.6 years (range, 7-49 years). These case series included 6 cases of primary bone defect reconstruction after resection of femoral shaft malignant tumor, 4 cases of nonunion or allogeneic bone fracture after massive bone allograft for femoral malignant tumor, and 1 case of femoral fracture caused by radiotherapy after resection of thigh soft tissue sarcoma. Vascularized fibular autograft combined with massive bone allograft or devitalized bone graft was used for reconstruction. The patients were divided into two groups according to reconstruction method, namely parallel reconstruction group and concentric reconstruction group. In the parallel reconstruction group, the vascularized fibula was placed on the medial side of the femur and the allograft and fixed with titanium cable. In the concentric reconstruction group, the vascularized fibula was placed in the medullary cavity of the allogeneic bone or devitalized bone and further fixed with the plate and screws.Results:There were 5 patients with 7 allograft-host junctions or fracture were treated with parallel reconstruction. The grafted length of fibula was 15.0±4.3 cm (range, 10-20 cm). The follow-up duration was 33.2±15.6 months (range, 20-53 months). Six patients with 10 allograft-host junctions were treated by concentric reconstruction. The grafted length of fibula was 15.5±2.3 cm (range, 12-18 cm). The follow-up duration was 45.8±15.3 months (range, 22-62 months). There was no significant difference during follow-up between the two groups ( t=1.36, P=0.208). The union rate in parallel reconstruction group was 100% (7/7), and the union duration was 15.9±6.8 months (range, 3-22 months). The union rate in the concentric reconstruction group was 70% (7/10), and the union duration was 18.9±6.4 months (range, 11-30 months). There was no significant difference in the union rate ( P=0.228) or the union duration ( t=0.846, P=0.414) between the two groups. Conclusion:Both parallel reconstruction and concentric reconstruction of vascularized fibular autograft are important methods for reconstruction of femoral shaft continuity after resection of malignant tumor. There might be no significant difference in union rate or union duration between the two methods.
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Objective:To investigate the accuracy and reproducibility of a new method, Automatic Measurement of Arterial Stiffness(AMAS) system, for arterial stiffness automatic measurement based on regional pulse wave velocity (PWV).Methods:A total of 30 hypertensive patients who were hospitalized in the Department of Cardiology in Tangdu Hospital, Air Force Military Medical University from September 1 to 30, 2019 were enrolled as hypertensive group, while 30 healthy participants at the same time were collected as healthy group. Carotid-femoral PWV (cfPWV) was measured in all subjects by two independent observers using the conventional manual method and the AMAS system. The measurements were compared and the agreement was analyzed.Results:There was no significant difference of cfPWV between AMAS system and the manual method, and the intraclass correlation coefficient was 0.953 (95% CI=0.922-0.971). Bland-Altman plots showed good agreement [mean difference: -(0.08±0.40)m/s; limit of agreement: -0.87-0.71 m/s]. Time consumption for cfPWV measurement using the AMAS system was significantly less than that of conventional manual method, saving about 70% of the time. The cfPWV measured by AMAS showed good intra- and inter-observer reproducibility. Conclusions:AMAS system is accurate and reproducible in measuring arterial stiffness. It may provide a noninvasive, rapid, reliable approach for arterial stiffness evaluation in clinical settings.
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Osteoporotic vertebral compression fracture (OVCF) can lead to lower back pain and may be even accompanied by scoliosis, neurological dysfunction and other complications, which will affect the daily activities and life quality of patients. Vertebral augmentation is an effective treatment method for OVCF, but it cannot correct unbalance of bone metabolism or improve the osteoporotic status, causing complications like lower back pain, limited spinal activities and vertebral refracture. The post-operative systematic and standardized rehabilitation treatments can improve curative effect and therapeutic efficacy of anti-osteoporosis, reduce risk of vertebral refracture, increase patient compliance and improve quality of life. Since there still lack relevant clinical treatment guidelines for postoperative rehabilitation treatments following vertebral augmentation for OVCF, the current treatments are varied with uneven therapeutic effect. In order to standardize the postoperative rehabilitation treatment, the Spine Trauma Group of the Orthopedic Branch of Chinese Medical Doctor Association organized relevant experts to refer to relevant literature and develop the "Guideline for postoperative rehabilitation treatment following vertebral augmentation for osteoporotic vertebral compression fracture (2022 version)" based on the clinical guidelines published by the American Academy of Orthopedic Surgeons (AAOS) as well as on the principles of scientificity, practicality and advancement. The guideline provided evidence-based recommendations on 10 important issues related to postoperative rehabilitation treatments of OVCF.
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Objective: To analyze the thyroid condition and influencing factors of radiation workers, and to provide scientific basis for radiation protection management. Methods: In April 2020, 4308 radiation workers from October 1, 2017 to September 30, 2019 were collected for occupational health examination in Hangzhou Occupational Disease Prevention and Treatment Hospital, the data included basic information, Thyroid hormone level and thyroid color doppler ultrasound results. The thyroid status of radiation workers in different subgroups was compared. The influencing factors of Thyroid nodule were analyzed by multiple logistic regression. Results: 616 radiation workers had abnormal thyroid gland (14.3%, 616/4308) . The main manifestations of thyroid gland abnormality were abnormal Thyroid nodule (5.1%, 220/4308) and abnormal TSH level (7.1%, 308/4308) . Compared with the male radiation workers, the abnormal rate of Thyroid nodule, T3 and Tsh in female radiation workers was higher (P<0.05) , and the abnormal rate of Thyroid nodule, T3 and T4 increased with the increase of working age (P<0.05) . Radiation Workers in non-rated medical institutions and private medical institutions had the highest detection rate of Thyroid nodule (P<0.05) , and there was no significant difference in thyroid abnormalities among Workers (P<0.05) . By multiple logistic regression analysis, Sex (female) , age and institution type (private) were all independent risk factors for Thyroid nodule (95% CI: 1.548~2.763、1.002~1.030, P<0.05) . Conclusion: Ionizing radiation can cause thyroid damage in radiation workers, so we should pay more attention to the radiation protection management of female, high age, private and district medical organizations, so as to protect the health of radiation workers.
Subject(s)
Female , Humans , Male , Occupational Diseases/epidemiology , Occupational Exposure/analysis , Radiation, Ionizing , Thyroid Nodule/epidemiologyABSTRACT
Objective:To investigate the application value of Da Vinci robotic transanal minimally invasive surgery (R-TAMIS) for local resection of rectal neoplasms.Methods:The retros-pective and descriptive study was conducted. The clinicopathological data of 7 rectal neoplasms patients undergoing R-TAMIS in Daping Hospital of Army Medical University from June 2017 to March 2021 were collected. There were 3 males and 4 females, aged (60±7)years. Observation indicators: (1) intraoperative situations; (2) postoperative recovery; (3) postoperative histopatholo-gical examinations; (4) follow-up. Follow-up was conducted using telephone interview or outpatient examination to detect readmission of patients within postoperative 30 days, tumor recurrence and metastasis and survival of patients. Follow-up was performed at postoperative 1, 3, 6 months and once every 6 months thereafter up to April 2021. Measurement data with normal distribution were represented as Mean± SD, and measurement data with skewed distribution were represented as M(range). Count data were described as absolute numbers. Results:(1) Intraoperative situations. All the 7 patients underwent R-TAMIS successfully without conversion to laparotomy or laparoscopic surgery. Of the 7 patients, 2 cases underwent full-thickness rectal resection and 5 cases underwent submucosal dissection of tumor. The rectal wounds were not sutured in 2 cases because of large lesions, and the rectal wounds were sutured with synthetic sutures in 5 cases after resection of lesions. Transanal drainage tube was placed in 2 cases and not in 5 cases. The volume of intra-operative blood loss of the 7 patients was 15(range, 2?50)mL. The total operation time of the 7 patients was (91.4±18.4)minutes, including (19.1±2.3)minutes for transanal platform placement and Da Vinci robotic surgical system installation, and (72.3±16.6)minutes for operation. There was no intraoperative complication such as urethral injury. (2) Postoperative recovery. All the 7 patients started water drinking and out-of-bed activities at postoperative day 1 and liquid food intake at postoperative day 2. The time to postoperative first flatus of the 7 patients was 1(range, 1?3)days. The two cases with transanal drainage underwent removing of transanal drainage at postoperative day 2. There was no postoperative complication and the duration of postoperative hospital stay of the 7 patients was 3(range, 3?9)days. (3) Postoperative histopathological examinations. Of the 7 patients, 3 cases had villous adenoma, 2 cases had villous adenoma combined with high grade intraepithelial neoplasia, local canceration and tumor invasion into submucosa (stage SM1), 1 case had villous adenoma combined with high grade intraepithelial neoplasia, local canceration and tumor localized in the inner mucosa (stage Tis) and 1 case had moderately differentiated adeno-carcinoma with tumor invasion into superficial muscle layer (stage T2). All the 7 patients had negative surgical margins with none of tumor cell remained in the base. (4) Follow-up. All the 7 patients were followed up for 18(range, 1?42)months. One of the 7 patients showed rectal adenocarcinoma with tumor invasion into superficial muscle layer by the postoperative histopathological examina-tion and was recommended for remedial radical surgery. The patient refused further surgery and underwent 3 courses of oral capecitabine chemotherapy. The other 6 patients did not receive postoperative chemotherapy. None of 7 patients underwent readmission within postoperative 30 days, and no patient had tumor local recurrence, distant metastasis or death during the follow-up.Conclusion:R-TAMIS for local resection of rectal neoplasms is safe and feasible for patients with rectal adenoma and early rectal cancer, with reliable short-term efficacy and short-term oncological efficacy.