AIM:To analyze the characteristics and correlation of phacoemulsification parameters and anterior segment parameters in cataract patients with different blood glucose levels.METHODS:A total of 45 type 2 diabetic cataract patients(45 eyes)treated in our hospital from March 2023 to April 2024 were stratified into two groups based on glycosylated hemoglobin(HbA1c)levels: group A: HbA1c <7%(n=18)and group B: 7%≤HbA1c<8.5%(n=27); a total of 94 age-matched age-related cataract patients(94 eyes)were enrolled as the control group(group C). All underwent phacoemulsification with intraocular lens implantation. Anterior segment parameters, including corneal, lens and anterior chamber measurements, were recorded. Correlations between phacoemulsification parameters and anterior segment parameters were analyzed, and differences among groups were compared.RESULTS: In groups A and B, effective phacoemulsification time(EPT)negatively correlated with corneal endothelial cell density(CECD)(r=-0.315, P=0.035). Average phacoemulsification time(APT)positively correlated with the anterior corneal surface radius of curvature(Rm; r=0.402, P=0.006)and negatively correlated with the flat axis meridian curvature(K1), steep axis meridian curvature(K2), mean curvature(Km)of the anterior corneal surface, and lens density at 6 mm zones(PDZ3; all P<0.05). Average phacoemulsification energy(AVE)positively correlated with mean lens density(LD-mean), lens density at 2 mm zones(PDZ1), lens density at 4 mm zones(PDZ2), and PDZ3(all P<0.05), and negatively with pupil diameter(r=-0.385, P=0.009). In the group C, EPT showed a positive correlation with Pentacam nucleus staging(PNS)density grade, PDZ1, PDZ2, and PDZ3(all P<0.05). A positive correlation was observed between AVE and PNS classification(r=0.246, P=0.018). Conversely, AVE exhibited a negative correlation with CECD(r=-0.245, P=0.018). EPT in groups A and B was higher than that in the group C(P<0.05). Both EPT and APT in the group B were higher than those in the group A(P<0.05). In diabetic cataract patients, CECD, corneal density(CD), and posterior corneal surface height positively correlated with diabetes duration(P<0.05). Posterior corneal surface K1 and Rm positively correlated with 7%≤HbA1c<8.5%(P<0.05). Total corneal astigmatism negatively correlated with HbA1c, 2-hour post-breakfast blood glucose(2hPBG), and fasting insulin(FINS; P<0.05). CD and lens thickness(LT)positively correlated with FINS(P<0.05).CONCLUSION: Phacoemulsification parameters and blood glucose-related indices exhibited varying degrees of correlation with anterior segment parameters in cataract patients with different blood glucose levels. EPT in diabetic cataract patients was higher than that in age-related cataract patients, while EPT and APT in diabetic cataract patients with poor glycemic control were higher than those with good glycemic control.

Objective To construct the evaluation index of physical restraint nursing quality for neurosurgical patients,which can guide nurses'clinical practice and continuously improve work flow and quality.Methods Under the guidance of three-dimensional quality structure model,the evaluation index of nursing quality of physical restraint in neurosurgery patients was established by reviewing literature,interviewing experts and using Delphi expert correspondence.Results The effective recovery rate of three rounds of expert enquiry was 100％,the expert authority coefficient was＞0.9,the first and second coordination co-efficients were 0.126 and 0.094(P＜0.001),and the final evaluation index included 3 first-level indicators and 31 second-level indicators.Conclusion The established evaluation indexes are scientific,standardized and comprehensive,which can guide the nursing quality of neurosurgery patients with physical restraint.

Objective:To analyze the disease spectrum of lysosomal storage disorders(LSDs) and explore the prevalent distributions of different LSD types in one center in Shanghai.Methods:A retrospective analysis was made.A total of 5 476 suspected LSD patients, including 3 415 males and 2 061 females, with a median age of 4 years(1 day to 72 years), were collected from Xinhua Hospital, Shanghai Jiaotong University School of Medicine from August 2008 to May 2022.The activity of different lysosomal enzymes was detected by fluorescent and biochemical methods.Results:A total of 1 520 patients were diagnosed with LSDs, including 972 males and 548 females, with a median age of 4 years(1 day to 59 years), involving 19 different subtypes.Mucopolysaccharidosis(MPS) was the most common type among LSDs, with a frequency of 45.46%(691/1 520), followed by sphingolipidoses [33.88%(515/1 520)] and glycogen storage disease type Ⅱ [16.05%(244/1 520)] successively.MPS Ⅱ was the most common type in MPS, with a frequency of 45.73%(316/691), followed by MPS ⅣA [22.87%(158/691)]. Niemann-Pick A/B, Gaucher, and Krabbe diseases were common in Sphingolipidoses patients, with frequencies of 37.09%(191/515), 34.37%(177/515), and 10.29%(53/515), respectively.Conclusions:LSDs are common genetic metabolic diseases, especially MPS and sphingolipidoses.Newborn screening for LSDs should be carried out timely so that the patients can be treated early and their prognosis can be improved.

Objective:To explore KRAS, NRAS, BRAF gene mutations and microsatellite instability(MSI) in colorectal cancer tissues as well as their correlation with the clinicopathological characteristics of patients.Methods:The clinicopathological data of 473 colorectal cancer patients in Shanxi Province Cancer Hospital from October 2020 to May 2021 were retrospectively analyzed. The mutation status of KRAS, NRAS and BRAF gene in the paraffin tissues were detected by using amplification refractory mutation system (ARMS) method. Polymerase chain reaction (PCR)-capillary electrophoresis was used to analyze MSI status, and the correlation of the clinicopathological characteristics of patients with gene mutations and MSI status was analyzed.Results:The mutation rates of KRAS, NRAS and BRAF were 45.03% (213/473), 2.96% (14/473) and 5.50% (26/473), respectively in 473 patients with colorectal cancer. No case harbored both 2 gene mutations was detected. The mutation rate of KRAS gene in well differentiated adenocarcinoma was higher than that in poorly differentiated adenocarcinoma [47.4% (175/369) vs. 36.5% (38/104), χ2 = 3.89, P = 0.049]. NRAS mutation rate in female was higher than that in male [5.0% (10/202) vs. 1.5% (4/271), χ2 = 4.86, P = 0.027], and the NRAS mutation rate in patients with tumor diameter ≤ 3 cm was higher than that in those with tumor diameter >3 cm [7.1% (7/98) vs. 1.9% (7/375), P = 0.013]. BRAF mutation rate of tumors located in colon was higher than that in rectum [11.7% (20/171) vs.2.0% (6/302), χ2 = 19.81, P < 0.001]; BRAF mutation rate in poorly differentiated tumor was higher than that in well differentiated tumor [10.6% (11/104) vs. 4.1% (15/369), χ2 = 6.62, P = 0.010]; BRAF mutation rate in patients with mucus was higher than that in those without mucus [10.9% (11/101) vs. 4.0% (15/372), χ2 = 7.19, P = 0.007]; BRAF mutation rate in patients with lymphatic metastasis was higher than that in patients without lymphatic metastasis [8.2% (15/182) vs.3.8% (11/291), χ2 = 4.29, P = 0.038]. The incidence of high frequency MSI (MSI-H) in 473 colorectal cancer tissues was 7.19% (34/473). The incidence of MSI-H in colon was higher than that in rectum [14.0% (24/171) vs. 3.3% (10/302), χ2 = 18.82, P < 0.001]; the incidence of MSI-H in patient with poor differentiated tumor was higher than that in those with well differentiated tumor [17.3% (18/104) vs. 4.3% (16/369), χ2 = 20.46, P < 0.001]; the incidence of MSI-H in patients with mucus was higher than that in those without mucus [11.9% (12/101) vs. 5.9% (22/372), χ2 = 4.24, P = 0.039]; and the incidence of MSI-H in patients without lymphatic metastasis was higher than that in patients with lymphatic metastasis [10.0% (29/291) vs. 2.7% (5/182), χ2 = 8.75, P = 0.003]. In addition, the incidence of MSI-H was on the rise in patients with BRAF mutation ( P < 0.001). Conclusions:KRAS, NRAS, BRAF gene mutations and MSI status are correlated with the clinicopathological characteristics of patients with colorectal cancer; there is a close relationship between MSI-H and BRAF mutation.

Objective:To investigate the spectrum of amino acid, organic acid, and fatty acid oxidative metabolic diseases in children diagnosed by detecting urinary organic acid levels using gas chromatography-mass spectrometry.Methods:From January 2005 to December 2021, clinical data of 2 461 children diagnosed with inherited metabolic diseases (IMD) by gas chromatography-mass spectrometry, in combination with tandem mass spectrometry and genetic testing in Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were retrospectively analyzed.Results:Among 2 461 children, 1 446 were male and 1 051 were female. A total of 32 types of IMD were detected among 2 461 patients, which included 10 amino acid disorders in 662 cases (26.9%), 6 common diseases were hyperphenylalaninemia, citrin deficiency, ornithine carbamoyltransferase deficiency, maple syrup urine disease, alkaptonuria, and tyrosinemia-I, 17 types of organic acidemias in 1 683 cases (68.4%), 6 common diseases were methylmalonic acidemia, propionic acidemia, valeric acidemia-type Ⅰ, isovaleric acidemia, 3-methylcrotonyl-CoA carboxylase deficiency and multiple carboxylase deficiency and 5 fatty acid β oxidative defects in 116 cases (4.7%), 2 common diseases were multiple acyl-CoA dehydrogenase deficiency and short-chain acyl-CoA dehydrogenase deficiency).Conclusion:Among the diseases diagnosed by analyzing urinary organic acid profiling with gas chromatography-mass spectrometry, the most common are organic acidemias, followed by amino acid disorders and fatty acid oxidation defects.

Objective:Nuclear magnetic resonance spectroscopy (NMR) was used to detect the species and content of metabolites in urine of patients with inherited metabolic diseases, and to explore the application value of NMR technology in the diagnosis of inherited metabolic diseases.Methods:Urine samples were collected from 20 patients with inherited metabolic diseases diagnosed in Xinhua Hospital, Shanghai Jiaotong University School of Medicine from March to June 2019, including 9 cases of methylmalonic acidemia (MMA). NMR pulse length-based concentration determination and Gas chromatography mass spectrometry (GC/MS) semi-quantitative method were used to detect the composition of metabolites in urine samples of patients with inherited metabolic diseases, and the levels of abnormal metabolites in the two methods were analyzed.Results:NMR technology can detect the levels of characteristic metabolites significantly increased in the urine of patients with MMA, isovalerinemia, glutaric acidemia, propionic acidemia, 3-methylcrotonyl-CoA carboxylase deficiency, ornithine carbamyltransferase deficiency, Citrin deficiency, Canavan disease, tyrosinemia and lysinuria protein intolerance. The average is 8 times of the upper limit of the reference value, and the highest is 545 times. Compared to GC/MS, NMR technology can detect the levels of various metabolites such as organic acids, amino acids and sugars. In 9 cases of untreated MMA,the median levels of methylmalonic acid and 3-hydroxypropionic acid in NMR [1 800 (180-12 000) and 50 (0-270) mmol/mol Cr] were higher than the reference values (0-31, 0-35). The median levels of methylmalonic acid and methylmalonic acid in GC/MS [136.56 (43.79-518.67) and 4.87 (1.52-7.52)] were higher than the reference values (0-4 and 0-0.7).Conclusions:NMR and GC/MS technologies are specific for the diagnosis of organic acidemia. The primary component detected by GC/MS is organic acid. NMR technology can break through this limitation and measure the level of various metabolites in urine, which provides a more theoretical basis for the diagnosis and research of inherited metabolic disease.

Objective:To analyze the value of droplet digital polymerase chain reaction (ddPCR) in detecting epidermal growth factor receptor (EGFR) mutations in peripheral blood circulating tumor DNA (ctDNA) of patients with non-small cell lung cancer (NSCLC).Methods:Peripheral blood samples of 63 patients with NSCLC who were treated in Shanxi Provincial Cancer Hospital from August 2018 to March 2019 were collected, and EGFR sensitive mutations in peripheral blood of patients were detected by ddPCR, and the results were compared with the results of amplification refractory mutation system polymerase chain reaction (ARMS-PCR). Kappa test was used to analyze the consistency of the two methods.Results:The EGFR sensitive mutations were found in 31 cases (49.2%) by ddPCR in peripheral blood of 63 patients with NSCLC. Among them, 1 case (1.6%) had G719X, 12 cases (19.0%) had E19-Del, 11 cases had T790M (17.5%), 7 cases (11.1%) had L858R. Seven cases (22.6%) of the patients had double mutations. In comparison, the above 4 mutations were found in 26 cases (41.3%) by the ARMS-PCR method, with 0 case, 12 cases (19.0%), 6 cases (9.5%), and 8 cases (12.7%), respectively, including 5 cases (19.2%) with double mutations. L858R in one case was positive when detected by ARMS-PCR, while it was negative when detected by ddPCR. The consistency rate of the two methods was 90.3% (κ = 0.8, P < 0.05). The median abundance of EGFR mutations in peripheral blood ctDNA of 31 cases was 1.7% (range 0.04%-23.60%). The median abundance of E19-Del was 2.50% (0.35%-22.70%), that of T790M was 0.6% (0.04%-14.00%), and that of L858R was 2.3% (0.20%-23.60%). Ten cases with the abundance of EGFR mutations < 1% when detected by ddPCR, accounting for 32.6% (10/31) of total patients with mutations, but only 5 cases of them were detected by ARMS-PCR. The detection rate of T790M by ddPCR in patients who had received tyrosine kinase inhibitor (TKI) and had acquired drug resistance was 57.9% (11/19), while it was 0 in patients without TKI treatment. Among patients with T790M mutation, 1 case had a mutation abundance < 0.1%, 7 cases had a mutation abundance of 0.1%-2.0%, 3 cases had a mutation abundance > 2.0%.Conclusions:The ddPCR provides a non-invasive, highly sensitive and absolutely quantitative method for detecting EGFR mutations in peripheral blood ctDNA of NSCLC patients. It provides a new detection method for EGFR-TKI targeted therapy in NSCLC patients with difficult sampling or with acquired drug resistance who need to repeatedly sample. The approach provides an important basis for the individualized targeted therapy.

Objective: Ischemia-reperfusion (IR) injury is a leading cause of flap compromise and organ dysfunction during free-tissue transfer, and remains a great challenge for plastic surgeons. Thioredoxin-1 (Trx-1) was proved to protect the IR flap by mitigating the oxidative stress, and inhibiting the activation of apoptosis signal-regulating kinase-1 (ASK-1) and mitogen-activated protein kinase (MAPK) pathway. The aim of this study is to investigate the distinction of Trx-1 expression, apoptosis indices in different layers of IR flaps, and the feasibility of tissue-layer-specific administration of Trx-1. Methods: Ten patients′ specimens of IR flaps for DIEP breast reconstruction were collected and assessed for apoptosis and Trx-1 expression. Twenty mice were used to establish the IR flap model. The mice were sacrificed twenty-four hours after reperfusion. The flap tissues were harvested and tested by immunohistochemistry staining and TUNEL assay. The tissue-layer-specific dermoprotective effect of Trx-1 and the molecular mechanisms were assessed by an in vitro epithelial skin cell hypoxia-reoxygenation model. The statistics were conducted by t test and ANOVA using SPSS 20.0. Results: Trx-1 expression and apoptotic cells were observed mainly located in the basal layer of epidermis and the papillary layer of dermis in human IR flaps and mice models. Trx-1 depletion was 24.19 %± 2.23% in the basal layer of epidermis and the papillary layer of dermis of patient IR flaps, decreasing significantly compared with 70.71% ± 6.38% in control group (t = 27.54, P< 0.001). Similar tissue-layer-specific down regulation of Trx-1 also displayed in mice IR flap models (19.83% ± 2.34% vs. 76.59% ± 4.88%; t = 34.71, P<0.001). The apoptotic index in human samples significantly increased from 1.32% ± 1.52% in control group to 43.71 %± 3.17% in IR group (t =38.23, P<0.001); while it was proved to be dramatically raised in mice models from 0.86% ± 1.15% in control group to 41.14 %± 4.21% in IR group (t= 36.96, P < 0.001). Western Blot analysis revealed Trx-1 down regulation and a significant increase in ASK-1, p-p38, and c-PARP abundance in the hypoxia-reoxygenation-treated HaCaT cells (P < 0.01). Supplementation of recombinant human Trx-1 significantly reduced the apoptosis-related protein expression. Conclusions The basal layer of epidermis and the papillary layer of dermis are the main damaged tissue layers in the early stage of skin flap ischemia-reperfusion injury. The IR flap can be protected by precisely replenishing the vulnerable layers with Trx-1.

Objective To investigate the current distribution of hepatitis C virus (HCV) genotype in Southern China and to understand the HCV transmission and to infer its transmitting trend.Methods The HCV gene subtypes of 3 524 specimens from Southern China were detected and analyzed by polyonerase chain reaction (PCR)-fluorescence probe method or sequencing.The regular nested PCR and sequencing were used for the phylogenetic tree analysis when the fluorescence PCR inefficiently identifying virus isolates.Results Among 3 524 specimens,there were 2 922 cases from Guangdong,78 cases from Fujian,152 cases from Hainan and 372 cases from Guangxi.Genotype 1b comprised the majority (1 808/ 3 524,51.3％),followed by genotype 6a (925/3 524,26.2％),2a (298/3 524,8.46％),3a (246/ 3 524,6.98％),3b (200/3 524,5.68％) and 1a (27/3 524,0.77％).In addition,1 case wasgenotype 6e,1 case was genotype 6q,1 case was genotype 6r,3 case were genotype 6w,2 case were genotype 6xa,2 case were genotype 6n,and 1 case was genotype 6 with unclassified subtype.The genotype 1b accounted for the majority in most areas of 21 cities and counties in Guangdong Province,followed by genotype 6a.But in some areas,the major genotype was genotype 6a,followed by 1b.Genotype 4,genotype 5 and genotype 7 were not found in this study.Conclusions In the past two years,genotype 1b and 6a are still the epidemic genotypes in Guangdong,Guangxi and Hainan provinces.However,genotype 6a has replaced 1b as the dominant one in some areas in Guangdong Province.The distributions of HCV genotypes do not change significantly in Guangxi and Fujian provinces.

Objective To assess the detection of urinary neutrophil gelatinase associated lipocalin (NGAL) and blood prohibitin (PHB) levels in early diagnosis of children with acute kidney injury (AKI).Methods One hundred and twenty children with severe allergic purpura,sepsis,kidney disease or heart disease admitted from June 2011 to June 2013 in our hospital were enrolled,including 60 cases with AKI and 60 cases without AKI;and 60 healthy children were selected as the control group.The urinary NGAL and blood PHB levels were measured with ELISA method.Results At d1 after diagnosis,the urinary NGAL level in severe AKI group [(146.76 ±61.22) μg/L] was higher than that in non-AKI group [(21.79 ± 17.31) μg/L] and control group [(17.42 ± 13.11) μg/L] (t =15.430 and 22.216,P ＜ 0.01).At d2 after diagnosis,the urinary NGAL level in severe AKI group [(82.31 ± 44.76) μg/L] was higher than that in non-severe AKI group [(21.56 ± 28.56) μg/L] (t =8.863,P ＜0.01).At d1 of diagnosis,the blood PHB level in severe AKI group was higher than that in non-severe AKI group [(14.03 ±6.43) vs.(8.01 ± 6.13),t =11.271,P =0.004];blood PHB in severe AKI group was higher than that in non-AKI group [(10.63 ± 4.21) vs.(8.00 ± 4.76),t =7.051,P =0.017].The levels of urinary NGAL and serum PHB gradually decreased over time in children with severe AKI.The area under the ROC curve (AUC) of urinary NGAL and blood PHB for diagnostic of AKI were 0.833 and 0.952 (P ＜ 0.01),respectively.The diagnostic rate of the combination of the two parameters was 100％.Conclusions The diagnostic value of PHB alone or NGAL in AKI still may be improved.The detection of PHB combined with NGAL can make up each other and improve the diagnosis of AKI,which contribute to the early diagnostic of AKI for clinical workers and provide effective intervention measures,and then reduce the mortality.