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Here, we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year-old female with severe central nervous system (CNS) abnormalities, hypotonia, hearing loss, congenital heart defects, and dysmorphic facial features. Familial whole-exome sequencing (WES) reveals that the patient has two compound heterozygous variants, c.304C>T (p.R102*) and c.1312G>A (p.A438T), in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein family. The p.A438T variant is in the RRM domain which impairs RBM42 protein stability in vivo. Additionally, p.A438T disrupts the interaction of RBM42 with hnRNP K, which is the causative gene for Au-Kline syndrome with overlapping disease characteristics seen in the index patient. The human R102* or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout ΔFgRbp1 in Fusarium while it was rescued by the wild-type (WT) human RBM42. A mouse model carrying Rbm42 compound heterozygous variants, c.280C>T (p.Q94*) and c.1306_1308delinsACA (p.A436T), demonstrated gross fetal developmental defects and most of the double mutant animals died by E13.5. RNA-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing (AS). Overall, we present clinical, genetic, and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.
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Female , Animals , Mice , Humans , Child, Preschool , Intellectual Disability/genetics , Heart Defects, Congenital/genetics , Facies , Cleft Palate , Muscle HypotoniaABSTRACT
Objective The aim of this study was to evaluate the efficacy and side effects of sacubitril/valsartan in the treatment of patients with chronic kidney disease(CKD)at stage 5 with resistant hypertension,and to explore the cardiovascular benefits and security of medical in the patients.Methods Patients with CKD5 resistant hypertension diagnosed and treated in the First Affiliated Hospital of Guangxi Medical University from September 2020 to March 2022 were selected and divided into the observation group(treated with routine treatment of kidney disease at end-stage and sacubitril/valsartan)and control group(include droutine treatment of renal disease at end-stage and ACEI or ARB drugs)according to treatment strategy.The patients in both two groups were treated with adequate dialysis treatment and conventional drug treatment of renal disease at end-stage.The patients were followed up for at least 3 months,the clinical efficacy of three months after treated with sacubitril/valsartan was observed,and the efficacy indicators and security indicators and adverse cardiovascular events were observed,the occurrence of adverse effects during the period of drug use were compared with the control group.Results A total of 110 patients were included in this study and there were 55 cases in each group.There were no significant differences in gender,age,age of dialysis,etiology,dialysis mode and blood pressure between the two groups(P>0.05).The Systolic blood pressure(SBP),diastolic blood pressure(DBP),b-type urinary natriuretic peptide precursor(Pro-BNP)and cardiac function grade in the observation group after treatment was significantly decreased compared with before treatment.The left ventricular ejection fraction(LVEF)and the ratio of LVEF<50%in the observation group was significantly reduced after treatment(P<0.05).SBP,DBP and Pro-BNP decreased 3 months after treatment compared with the baseline before treatment,and improved significantly in the first month after treatment(P<0.05).The decrease of DBP and BNP before and after treatment was significantly different between the two groups,and the decrease of DBP and BNP was more significant in the observation group(P<0.05).The difference of LVEF and left ventricular end diastolic diameter(LVEDD)between the two groups before and after treatment was statistically significant,and the improvement was more obvious in the observation group(P<0.05).There were no significant differences in the safety indicators of serum potassium,estimated glomerular filtration rate(eGFR)and liver function between two groups before and after treatment(P>0.05).In terms of adverse reactions,only 1 case in the control group developed hyperkalemia within 3 months of follow-up,and no hypotension or other adverse reactions occurred in the two groups.Conclusions The treatment of patients with CKD stage 5 hypertension with sacubitril/valsartan has obvious cardiovascular benefits.Sacubitril/Valsartan has efficacy in lowering blood pressure,improving cardiac function and reducing volume load,with less adverse events and higher safety than control group.
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Hepato-pancreato-biliary diseases (HPBD) are often complicated. The diagnosis and treatment of HPBD involve many disciplines. The malignant degree of hepatobiliary pancreatic system is high, and the prognosis of patients is poor. The multidisciplinary team (MDT) brings specialists from different disciplines together to make a comprehensive and individualized treatment for patients. MDT is emerging in HPBD in recent years. MDT helps improve the accuracy of diagnosis and prognosis. However, there are still some controversies and obstacles in the application of MDT for patients with HPBD. We reviewed the development, current status and experience of MDT in the field of HPBD, analyze the current controversy and obstacles, and providing reference for its future application.
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Objective To observe the risk factors of recurrence after ultrasound-guided thermal ablation for treating uremia secondary hyperparathyroidism(SHPT).Methods Totally 59 patients with uremia SHPT who underwent ultrasound-guided thermal ablation were enrolled,including 23 cases with(relapse group)and 36 without SHPT recurrence(non relapsed group).Clinical data were compared between groups,univariate and multivariate logistic regression analysis were performed to screen independent risk factors of SHPT recurrence.Results There were significant differences of serum free thyroxine(FT4),urea,intact parathyroid hormone(iPTH)1 day after ablation,1 day decrease rate of iPTH,the maximum diameter of the largest nodule,ablation time,total ablation energy,energy to volume ratio and the proportion of 1 day decrease rate of iPTH≤90%between groups(all P＜0.05).Higher urea,lower energy to volume ratio and 1 day decrease rate of iPTH≤90%were all independent risk factors of SHPT recurrence(all P＜0.05).Conclusion Higher urea,lower energy to volume ratio and 1 day decrease rate of iPTH≤90%were independent risk factors of recurrence after ultrasound-guided thermal ablation for treating uremia SHPT.
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Objective:To investigate the clinical characteristics and vaccination of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in maintenance hemodialysis (MHD) patients.Methods:It was a cross-sectional survey. Through wechat questionnaire star mode, the status of SARS-CoV-2 infection, clinical manifestation after infection and vaccination of MHD patients in Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine between December 8, 2022 and January 12, 2023 were retrospectively collected during the period that SARS-CoV-2 infection was managed with measures against class B infectious diseases. The patients were grouped according to whether they were infected with SARS-CoV-2 and whether they were complicated with pneumonia after infection during the study period. Logistic regression analysis was used to analyze the risk factors of SARS-CoV-2 infection combined with pneumonia or persistent symptoms after SARS-CoV-2 turning negative.Results:A total of 241 questionnaires were issued, and 223 valid questionnaires were returned, of which 175 patients (78.5%) were infected with SARS-CoV-2 during the study period. The time of negative conversion of antigen or nucleic acid after SARS-CoV-2 infection was 10 (7,14) days. Asymptomatic infections accounted for 10.3% (18/175). Symptomatic infections accounted for 89.7% (157/175), and the top five most frequent symptoms were cough (70.1%, 110/157), fever (64.3%, 101/157), pharyngeal pain (35.0%, 55/157), muscle pain (28.7%, 45/157), and nasal obstruction (21.0%, 33/157). Pneumonia was reported in 54.3% (95/175) of infected patients. There were no statistically significant differences in age, gender distribution, proportion of diabetes mellitus, and proportion of history of tumors between SARS-CoV-2-infected and uninfected patients (all P>0.05). Compared with the non-pneumonia group, the proportions of dyspnea (12.6% vs. 1.3%, χ2=8.181, P=0.004) and chest tightness (23.2% vs. 10.0%, χ2=5.293, P=0.021) in the pneumonia group were both higher. There were no significant differences in age, gender distribution, time of negative SARS-CoV-2 transition, number of symptoms and SARS-CoV-2 vaccination rate,and proportions of diabetes mellitus and tumors between the pneumonia group and the non-pneumonia group (all P>0.05). There were 48.6% (85/175) infected patients having long-lasting clinical symptoms after SARS-CoV-2 turning negative. Logistic regression analysis results showed that diarrhea was an independent influencing factor of pneumonia in MHD patients infected with SARS-CoV-2 [ OR (95% CI)=6.323 (1.061-37.682), P=0.043]. The number of symptoms at onset [ OR (95% CI)=1.571 (1.318-1.873), P<0.001] and history of tumors [ OR (95% CI)=0.206 (0.054-0.777), P=0.020] were independent influencing factors of long-lasting clinical symptoms. The SARS-CoV-2 vaccination rate was 7.2% (16/223) in MHD patients due to safety concerns (81.2%, 164/202). Conclusions:MHD patients are SARS-CoV-2-susceptible population. The clinical symptoms after infection are diverse, heterogeneous, and the proportion of complicated pneumonia is high. Diarrhea is an independent influencing factor of pneumonia in SARS-CoV-2-infected MHD patients. Nearly half of patients experience long-lasting clinical symptoms after SARS-CoV-2 turning negative. The low rate of vaccination in the MHD population necessitates increased awareness about the safety and efficacy of SARS-CoV-2 vaccine.
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Objective:To explore the mediating effect of caring ability of family caregivers on dementia patients′ self-care ability and family caregiver burden.Methods:A total of 113 dementia caregivers of dementia patients recruited in Shandong Provincial Hospital Affiliated to Shandong First Medical University and Shandong Mental Health Center from September 2020 to January 2021 were selected, and the Barthel Index, Family Caregiver Task Inventory and Zarit Burden Interview were used to capture their responses on dementia patients′ self-care ability, caring ability, and caregiver burden.Results:The score of self-care ability of dementia patients was (75.19 ± 28.56), and scores of caring ability and care burden of caregivers were 9.00(4.00, 15.00) and (33.78 ± 16.53), respectively. The self-care ability of dementia patients was negatively associated with caring ability and care burden of caregivers ( r=-0.424, -0.420, both P<0.01), and the caring ability and care burden were positively correlated ( r=0.605, P<0.01). The intermediary effect of dementia caregivers' caring ability between patients' self-care ability and caregivers' care burden is significant. The indirect effect was -0.107 and the total effect was -0.187. The indirect effect accounted for 57.22% of the total effect. Conclusions:Caring ability of family caregivers mediates the relationship between self-care ability of dementia patients and caregivers' care burden.The caring ability may be used as an intervening target for future studies.
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Objective:To determine the prevalence of sarcopenia and explore related influencing factors of sarcopenia in maintenance hemodialysis (MHD) patients.Methods:MHD patients aged ≥18 years old and receiving therapies of ≥3 months from March 2019 to December 2019 in Blood Purification Centre of Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were retrospectively enrolled in this study. General data of the patients were collected. Grip strength was measured by the Jamar dynamometer and the chair stand was measured by a chair of standard height to assess skeletal muscle strength and appendicular skeletal muscle mass was measured by dual energy X-ray absorptiometry. Baseline data between MHD patients with and without myasthenia were compared. Logistic regression analysis method was used to analyze the influencing factors for sarcopenia in MHD patients.Results:A total of 125 MHD patients were enrolled, with 68 males (54.4%), age of (59.4±14.9) years and median dialysis age of 51.0(23.5, 101.0) months. Sarcopenia was diagnosed in 39 cases (31.2%). Compared with MHD patients without sarcopenia, age, tumor necrosis factor-α, von Willebrand factor (vWF) and proportion of using α ketones were higher, and serum carbondioxide combining power (CO 2CP), prealbumin, albumin and proportion of regular exercise were lower in MHD patients with sarcopenia (all P<0.05). Multivariable logistic regression analysis results showed that low CO 2CP ( OR=0.717, 95% CI 0.576-0.892, P=0.003), high vWF ( OR=1.037, 95% CI 1.016-1.058, P<0.001) and no regular exercise ( OR=0.309, 95% CI 0.118-0.810, P=0.017) were independent influencing factors of sarcopenia in MHD patients. Conclusions:The prevalence of sarcopenia in MHD patients is high. Low CO 2CP, high vWF and no regular exercise are independent influencing factors for sarcopenia in MHD patients.
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Objective:To investigate the diagnosis and treatment for intra-abdominal fistula in China, and to explore the prognostic factors.Methods:A multi-center cross-sectional study was conducted based on the Registration System of Chinese Gastrointestinal Fistula and Intra-Abdominal Infections to collect the clinical data of patients with intra-abdominal fistula from 18 medical centers from January 1, 2018 to December 31, 2018, including basic information, medical records and prognosis.Results:A total of 106 patients were enrolled in this study, including 57 males and 49 females, with an average age of (48.0±17.8)years. The most common type of intra-abdominal fistula was entero-vesical fistula (34.0%), followed by entero-vaginal fistula (31.1%), entero-enteric fistula (26.4%) and multiple fistula (8.5%). The direct causes of intra-abdominal fistula were mainly surgical operation (66.0%), followed by spontaneous fistula due to Crohn′s disease (18.9%), radiation intestinal injury (11.3%), and 4 cases (3.8%) of unknown reasons. During the whole treatment, 95 patients received nutritional support therapy, mainly EN+ PN (75.8%). Finally, 86 patients (81.1%) received surgical treatment, with a healing rate of 95.3%. After surgery, 8.1% of patients developed surgical site infections (SSI), and 10.5% had a relapse of fistula. 20 patients (18.9%) were treated conservatively, with a self-healing rate of 80.0%. The overall mortality rate was 8.5%, and the highest mortality (15.2%) was found in entero-enteric fistula. Statistical analysis showed that the age ( t=-4.664, P<0.001), leucocyte level ( U=663.000, P=0.010), sepsis ( P=0.002) and multiple organ dysfunction syndrome (MODS) ( P=0.019) were higher in the death group than those in the healing group. Multivariate analysis suggested that advanced age ( OR=1.073, 95% CI: 1.008-1.141, P=0.026) and complications of sepsis ( OR=11.806, 95% CI: 1.064-131.048, P=0.044) were independent risk factors of the death for patients with intra-abdominal fistula. Conclusions:The overall mortality rate of intra-abdominal fistula is still high, and malignant tumor is the most common primary disease. Advanced age and sepsis are independent risk factors for death in patients with intra-abdominal fistula.
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Objective@#To investigate the diagnosis and treatment for enterocutaneous fistula (ECF) in China, and to explore the prognostic factors of ECF.@*Methods@#A multi-center cross-sectional study was conducted based on the Registration System of Chinese Gastrointestinal Fistula and Intra-Abdominal Infections to collect the clinical data of ECF patients from 54 medical centers in 22 provinces/municipalities from January 1, 2018 to December 31, 2018. The clinical data included patient gender, age, length of hospital stay, intensive care unit (ICU) admission, underlying diseases, primary diseases, direct causes of ECF, location and type of ECF, complications, treatment and outcomes. All medical records were carefully filled in by the attending physicians, and then re-examined by more than two specialists. The diagnosis of ECF was based on the clinical manifestations, laboratory/imaging findings and intraoperative exploration.@*Results@#A total of 1521 patients with ECF were enrolled, including 1099 males and 422 females, with a median age of 55 years. The top three primary diseases of ECF were malignant tumors in 626 cases (41.2%, including 540 gastrointestinal tumors, accounting for 86.3% of malignant tumors), gastrointestinal ulcers and perforations in 202 cases (13.3%), and trauma in 157 cases (10.3%). The direct causes of ECF were mainly surgical operation in 1194 cases (78.5%), followed by trauma in 156 (10.3%), spontaneous fistula due to Crohn′s disease in 92 (6.0%), radiation intestinal injury in 41 (2.7%), severe pancreatitis in 20 (1.3%), endoscopic treatment in 13 (0.9%) and 5 cases (0.3%) of unknown reasons. All the patients were divided into three groups: 1350 cases (88.7%) with simple ECF, 150 (9.9%) with multiple ECF, and 21 (1.4%) with combined internal fistula. Among the patients with simple ECF, 438 cases (28.8%) were jejuno-ileal fistula, 313 (20.6%) colon fistula, 170 (11.2%) rectal fistula, 111 (7.3%) duodenal fistula, 76 (5.0%) ileocecal fistula, 65 (4.3%) ileocolic anastomotic fistula, 55 (3.6%) duodenal stump fistula, 36 (2.4%) gastrointestinal anastomotic fistula, 36 (2.4%) esophagogastric/esophagojejunal anastomotic fistula, 29 (1.9%) gastric fistula and 21 (1.4%) cholangiopancreatiointestinal. Among all the simple ECF patients, 991 were tubular fistula and 359 were labial fistula. A total of 1146 patients finished the treatment, of whom 1061 (92.6%) were healed (586 by surgery and 475 self-healing) and 85 (7.4%) died. A total of 1043 patients (91.0%) received nutritional support therapy, and 77 (6.7%) received fistuloclysis. Infectious source control procedures were applied to 1042 patients, including 711 (62.0%) with active lavage and drainage and 331 (28.9%) with passive drainage. Among them, 841 patients (73.4%) underwent minimally invasive procedures of infectious source control (replacement of drainage tube through sinus tract, puncture drainage, etc.), 201 (17.5%) underwent laparotomy drainage, while 104 (9.1%) did not undergo any drainage measures. A total of 610 patients (53.2%) received definitive operation, 24 patients died within postoperative 30-day with mortality of 3.9% (24/610), 69 (11.3%) developed surgical site infection (SSI), and 24 (3.9%) had a relapse of fistula. The highest cure rate was achieved in ileocecal fistula (100%), followed by rectal fistula (96.2%, 128/133) and duodenal stump fistula (95.7%,44/46). The highest mortality was found in combined internal fistula (3/12) and no death in ileocecal fistula. Univariate prognostic analysis showed that primary diseases as Crohn′s disease (χ2=6.570, P=0.010) and appendicitis/appendiceal abscess (P=0.012), intestinal fistula combining with internal fistula (χ2=5.460, P=0.019), multiple ECF (χ2=7.135, P=0.008), esophagogastric / esophagojejunal anastomotic fistula (χ2=9.501, P=0.002), ECF at ileocecal junction (P=0.012), non-drainage/passive drainage before the diagnosis of intestinal fistula (χ2=9.688, P=0.008), non-drainage/passive drainage after the diagnosis of intestinal fistula (χ2=9.711, P=0.008), complicating with multiple organ dysfunction syndrome (MODS) (χ2=179.699, P<0.001), sepsis (χ2=211.851, P<0.001), hemorrhage (χ2=85.300, P<0.001), pulmonary infection (χ2=60.096, P<0.001), catheter-associated infection (χ2=10.617, P=0.001) and malnutrition (χ2=21.199, P<0.001) were associated with mortality. Multivariate prognostic analysis cofirmed that sepsis (OR=7.103, 95%CI:3.694-13.657, P<0.001), complicating with MODS (OR=5.018, 95%CI:2.170-11.604, P<0.001), and hemorrhage (OR=4.703, 95%CI: 2.300-9.618, P<0.001) were independent risk factors of the death for ECF patients. Meanwhile, active lavage and drainage after the definite ECF diagnosis was the protective factor (OR=0.223, 95%CI: 0.067-0.745, P=0.015).@*Conclusions@#The overall mortality of ECF is still high. Surgical operation is the most common cause of ECF. Complications e.g. sepsis, MODS, hemorrhage, and catheter-associated infection, are the main causes of death. Active lavage and drainage is important to improve the prognosis of ECF.
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Objective To explore the association between coagulation indicators and all-cause mortality in sepsis-related acute kidney injury (AKI) patients. Methods Clinical data of patients with sepsis-related AKI admitted to the First Affiliated Hospital of Guangxi Medical University from June 10, 2016 to June 10, 2018 were retrospectively analyzed. The patients were divided into death group and survival group according to the outcome of 28 d. The risk factors of all-cause mortality in sepsis-related AKI patients were analyzed. Receiver operating characteristic curve (ROC) was used to evaluate the prognostic value of independent risk factor for the death of sepsis-related AKI patientsand Kaplan-Meier method was used to draw the survival curve. Results A total of 214 patients with sepsis-related AKI were enrolled into this study. Their age was (57.90±16.96) years old, and the ratio of male to female was 2.57:1. There was at least one abnormal coagulation indicator in 74.77％(160/214) of patients, and multiple organ dysfunction syndrome (MODS) in 37.38％ of patients. The 28-day all-cause mortality was 28.04％(60/214). Prothrombin time, activated partial thrombin time (APTT), international standardized ratio, thrombin time, procalcitonin, abnormal coagulation indicators and the incidence of MODS in the death group were higher than those in the survival group, while body weight, hemoglobin, the percent of neutrophile granulocyte, platelet count, prothrombin activity, serum albumin and the proportion of renal replacement therapy (RRT) were lower than those in the survival group (all P<0.05). Cox regression analysis suggested that sepsis-related AKI patients with prolonged APTT had a higher risk for all-cause death (HR=2.610, 95％CI 1.077-6.326, P=0.034). The Kaplan-Meier survival curve indicated that 28 d survival rate of APTT extension group was lower than that of the non-APTT extension group (37.1％ vs 70.6％, Log-rank χ2=16.881, P<0.001), and the average survival time was shorter than that of the non-APTT extension group (21.79 d vs 24.73 d). Conclusions Coagulation abnormalities are common in patients with sepsis-related AKI, which are also correlated to the all-cause death. APTT extension is an independent risk factor for the all-cause death in sepsis-related AKI patients.
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Objective Based on data mining technology, we discussed the correlation of different gene mutation, fusion or amplification in advanced lung cancer patients. Methods 630 cases in our hospital were collected and the drug database was established by Excel 2016. Frequency analysis and association rules were used for statistical analysis, and statistical analysis was performed on SPSS22.0 and SPSSModerler statistical software.Results There were 26 high frequency genes, such as EGFR-19 mutation, ALK fusion, RET mutation, EGFRL858 R-21 mutation, ALK mutation, and the first 6 cases of T790M mutation. The first 26 were NRAS-G12 D mutation and BRAF-G466 V mutation, MYC-R450 W mutation and CYP2D6 mutation, GATA3 M423 fs mutation and ESR1 mutation, abrupt mutation, mutation and sudden process. The variable classification values are associated with each other. The minimum value of gene association analysis was 50％ and support was 10％. After Apriori module analysis, EGFR-19 mutation and 14 genes were not found (confidence degree 46.667％) , EGFR-19 mutation and T790 M mutation (confidence degree 40％) , EGFR-19 mutation and TP53 mutation (confidence degree 13.333％) , ROS1 fusion and MET amplification (confidence 47.619％) , MET amplification and ROS1 melting (confidence level 50％) , T790 M mutation and EGFR amplification (confidence level 57.895％) , EGFR-19 mutation and EGFR amplification (confidence 42.105％). Cluster analysis BRAF-G466 V and NRAS-G12D, MYC-R450 W and CYP2 D6, GATA3 M423 fs and SRC, PIK3 CA amplification and PIK3CA, Pten and EGFEL861 Q-21, KRAS G12A and blending. Conclusion There are correlations between different genes and mutation, fusion, lack and amplification of lung cancer.
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BACKGROUND@#More and more patients with small pulmonary nodules (SPN) can be found along with the developing of chest low-dose computed tomography (LDCT). With current examinations not all the SPN can be diagnosed to be benign or malignant and not all the malignant nodules can be diagnosed to be lymphatic metastasis. We need to study the correlation between plasma D-dimer count of patients before surgery with pathology features of non-small cell lung cancer (NSCLC).@*METHODS@#The study comprised 567 highly suspected lung cancer patients. Preoperative plasma D-dimer were qualified, and the relationship between plasma D-dimer with pathology features including benign or malignant nodules, tumor size and involvement of lymph nodes was examined using Kruskal-Wallis test and Spearman correlation coefficients.@*RESULTS@#The median plasma D-dimer values were statistically higher in NSCLC patients than in those who suffered from benign lung nodules (P112.5 ng/mL) and malignant lymph node involvement in stage T1 lung cancer.@*CONCLUSIONS@#The plasma D-dimer maybe useful for early diagnosis, staging and prognosis of the patients with NSCLC. The plasma D-dimer can be one of the indicator to identify what kind of patients need mediastinal lymph node cleaning.
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Adult , Aged , Female , Humans , Male , Middle Aged , Carcinoma, Non-Small-Cell Lung , Blood , Pathology , Fibrin Fibrinogen Degradation Products , Metabolism , Lung Neoplasms , Blood , Pathology , Lymphatic Metastasis , Retrospective StudiesABSTRACT
OBJECTIVE@#To analyze the current status of diagnosis and management of acute appendicitis (AA) in China.@*METHODS@#Questionnaire survey was used to retrospectively collect data of hospitalized patients with AA from 43 medical centers nationwide in 2017 (Sort by number of cases provided: Jinling Hospital of Medical School of Nanjing University, The First Affiliated Hospital of Xinjiang Medical University, Lu'an People's Hospital, Tengzhou Central People's Hospital, Dalian Central Hospital, The Affiliated Hospital of Xuzhou Medical University, Dongying People's Hospital, Jinjiang Hospital of Traditional Chinese Medicine, Huangshan Shoukang Hospital, Xuyi People's Hospital, Nanjing Jiangbei People's Hospital, Lanzhou 940th Hospital of PLA, Heze Municipal Hospital, The First College of Clinical Medical Science of China Three Gorges University, Affiliated Jiujiang Hospital of Nanchang University, The Second People's Hospital of Hefei, Affiliated Central Hospital of Shandong Zaozhuang Mining Group, The Third People's Hospital of Kunshan City, Xuzhou First People's Hospital, The 81st Group Army Hospital of PLA, Linyi Central Hospital, The General Hospital of Huainan Eastern Hospital Group, The 908th Hospital of PLA, Liyang People's Hospital, The 901th Hospital of Joint Logistic Support Force, The Third Affiliated Hospital of Chongqing Medical University, The Fourth Hospital of Jilin University, Harbin Acheng District People's Hospital, The First Affiliated Hospital of Zhengzhou University, Nanjing Luhe People's Hospital, Taixing Municipal People's Hospital, Baotou Central Hospital, The Affiliated Hospital of Nantong University, Linyi People's Hospital, The 72st Group Army Hospital of PLA, Zaozhuang Municipal Hospital, People's Hospital of Dayu County, Taixing City Hospital of Traditional Chinese Medicine, Suzhou Municipal Hospital, Beijing Guang'anmen Hospital, Langxi County Hospital of Traditional Chinese Medicine, Nanyang Central Hospital, The Affiliated People's Hospital of Inner Mongolia Medical University).The diagnosis and management of AA were analyzed through unified summary. Different centers collected and summarized their data in 2017 and sent back the questionnaires for summary.@*RESULTS@#A total of 8 766 AA patients were enrolled from 43 medical centers, including 4 711 males (53.7%) with median age of 39 years and 958 (10.9%) patients over 65 years old. Of 8 776 patients, 5 677 cases (64.6%) received one or more imaging examinations, and the other 3 099 (35.4%) did not receive any imaging examination. A total of 1 858 (21.2%) cases received medical treatment, mainly a combination of nitroimidazoles (1 107 cases, 59.8%) doublet regimen, followed by a single-agent regimen of non-nitroimidazoles (451 cases, 24.4%), a nitroimidazole-free doublet regimen (134 cases, 7.2%), a triple regimen of combined nitroimidazoles (116 cases, 6.3%), nitroimidazole alone (39 cases, 2.1%) and nitroimidazole-free triple regimen (3 cases, 0.2%). Of the 6 908 patients (78.8%) who underwent surgery, 4 319 (62.5%) underwent laparoscopic appendectomy and 2589 (37.5%) underwent open surgery. Ratio of laparotomy was higher in those patients under 16 years old (392 cases) or over 65 years old (258 cases) [15.1%(392/2 589) and 10.0%(258/2 589), respectively, compared with 8.5%(367/4 316) and 8.0%(347/4 316) in the same age group for laparoscopic surgery, χ²=91.415, P<0.001; χ²=15.915,P<0.001]. Patients with complicated appendicitis had higher ratio of undergoing open surgery as compared to those undergoing laparoscopic surgery [26.7%(692/2 589) vs. 15.6%(672/4 316), χ²=125.726, P<0.001].The cure rates of laparoscopic and open surgery were 100.0% and 99.8%(2 585/2 589) respectively without significant difference (P=0.206). Postoperative complication rates were 4.5%(121/2 589) and 4.7%(196/4 316) respectively, and the difference was not statistically significant (χ²=0.065, P=0.799). The incidence of surgical site infection was lower (0.6% vs. 1.7%, χ²=17.315, P<0.001), and hospital stay was shorter [6(4-7) days vs. 6(5-8) days, U=4 384 348.0, P<0.001] in the laparoscopic surgery group, while hospitalization cost was higher (median 12 527 yuan vs. 9 342 yuan, U=2 586 809.0, P<0.001).@*CONCLUSIONS@#The diagnosis of acute appendicitis is still clinically based, supplemented by imaging examination. Appendectomy is still the most effective treatment at present. Laparoscopic appendectomy has become the main treatment strategy, but anti-infective drugs are also very effective.
Subject(s)
Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Acute Disease , Anti-Bacterial Agents , Therapeutic Uses , Appendectomy , Appendicitis , Diagnosis , Therapeutics , China , Health Care Surveys , Laparoscopy , Retrospective Studies , Treatment OutcomeABSTRACT
Objective@#To explore the association between coagulation indicators and all-cause mortality in sepsis-related acute kidney injury (AKI) patients.@*Methods@#Clinical data of patients with sepsis-related AKI admitted to the First Affiliated Hospital of Guangxi Medical University from June 10, 2016 to June 10, 2018 were retrospectively analyzed. The patients were divided into death group and survival group according to the outcome of 28 d. The risk factors of all-cause mortality in sepsis-related AKI patients were analyzed. Receiver operating characteristic curve (ROC) was used to evaluate the prognostic value of independent risk factor for the death of sepsis-related AKI patients and Kaplan-Meier method was used to draw the survival curve.@*Results@#A total of 214 patients with sepsis-related AKI were enrolled into this study. Their age was (57.90±16.96) years old, and the ratio of male to female was 2.57∶1. There was at least one abnormal coagulation indicator in 74.77%(160/214) of patients, and multiple organ dysfunction syndrome (MODS) in 37.38% of patients. The 28-day all-cause mortality was 28.04%(60/214). Prothrombin time, activated partial thrombin time (APTT), international standardized ratio, thrombin time, procalcitonin, abnormal coagulation indicators and the incidence of MODS in the death group were higher than those in the survival group, while body weight, hemoglobin, the percent of neutrophile granulocyte, platelet count, prothrombin activity, serum albumin and the proportion of renal replacement therapy (RRT) were lower than those in the survival group (all P<0.05). Cox regression analysis suggested that sepsis-related AKI patients with prolonged APTT had a higher risk for all-cause death (HR=2.610, 95%CI 1.077-6.326, P=0.034). The Kaplan-Meier survival curve indicated that 28 d survival rate of APTT extension group was lower than that of the non-APTT extension group (37.1% vs 70.6%, Log-rank χ2=16.881, P<0.001), and the average survival time was shorter than that of the non-APTT extension group (21.79 d vs 24.73 d).@*Conclusions@#Coagulation abnormalities are common in patients with sepsis-related AKI, which are also correlated to the all-cause death. APTT extension is an independent risk factor for the all-cause death in sepsis-related AKI patients.
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Objective To investigate the clinical significance of plasma methylated Septin 9 (SEPT9)gene test for colorectal cancer(CRC).Methods Clinical data of this retrospective study were obtained from Huashan Hospital of Fudan University(2016-2017).The subjects were divided into three groups,84 patients in CRC group,50 patients with adenoma in precancerous group,and 20 cases as healthy controls.A fluorescent PCR assay was used to analyze SEPT 9 methylation in DNA extracted from plasma. Chi square test was used for statistical analysis.Results The positive incidence of SEPT9 gene methylation in plasma was 63.1%(53/84)in CRC group,significantly higher than 10%(5/50)in precancerous group (χ2=35.993, P<0.001), and undetectable in healthy group.The sensitivity of the methylated SEPT9 gene test was 63.1%(53/84), and the sensitivity of a joint detection combined with carcinoembryonic antigen(CEA)was 75%(63/84).The receiver operating characteristic curve(ROC)showed that methylated SEPT9 gene test had 0.828 in the area under the curve(AUC),higher than 0.795 in the AUC of CEA test.In CRC patients,51.4%(19/37)in the stage Ⅰ-Ⅱand 72.3%(34/47)in the stage Ⅲ-Ⅳ were positive for methylated SEPT9 gene test(χ2=3.917, P<0.05).There were no significant differences in gender,age and primary tumor site.Conclusion The SEPT9 gene methylation in plasma is helpful for early screening for CRC,and is associated with CRC progression.
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Objective To investigate the value of red blood cell distribution width (RDW) in the diagnosis of Iron Deficiency Anemia(IDA).Methods Most relevant studies,which were retrieved from the Medline,Embase,and the Cochrane Library were identified according to the inclusion and exclusion criteria and data were extracted.Statistical analyses were performed by employing Meta-DiSc 1.4 software.Meta-analysis of the reported accuracy of each study was performed and summary receiver operating characteristic (SROC) curve was drawn.Results Four studies met the inclusion criteria for the analysis.Heterogeneity test did not find significant heterogeneity among included studies.RDW＞14％ was taken as the diagnostic critical value,the sensitivity was 0.92[95％CI(0.88,0.94)],the specificity was 0.41[95％CI(0.35,0.47)] and the AUC of SROC was 0.87.Conclusion RDW is sensitive and has good value in the diagnosis of IDA.
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BACKGROUND@#Lung cancer is the leading cause of cancer-related deaths, patients with non-small cell lung cancer (NSCLC) usually have distant metastases, such as bone metastasis, brain metastasis, and lung metastasis. The purpose of this study was to explore the risk factors for bone metastasis in NSCLC patients.@*METHODS@#A total of 176 cases of NSCLC were selected from May 2009 to May 2011, and patients were divided into two groups, namely the bone metastasis group and non-bone metastasis group. The general clinicopathological data of the two groups and analyzing the independent risk factors of bone metastasis were compared.@*RESULTS@#In the general clinicopathological data of NSCLC patients. The thrombus or not and tumor-node-metastasis (TNM) stage were closely related to the occurrence of bone metastasis, and were statistically significant (all P<0.01). Prothrombin time, activated partial thromboplastin time, Fibrinogen, thrombin time, blood platelet, D-Dimer and alkaline phosphatase have significantly difference between the two groups (all P<0.05). Logistic regression analysis showed that fibrinogen, activated partial thromboplast in time, alkaline phosphatase, T4 phase, N3 phase and d-dimer were independent risk factors for bone metastasis in NSCLC patients.@*CONCLUSIONS@#Fibrinogen, alkaline phosphatase, T3, N2 stage and D-Dimer is the independent risk factors of bone metastases in patients with NSCLC. .
Subject(s)
Aged , Female , Humans , Male , Middle Aged , Bone Neoplasms , Diagnosis , Carcinoma, Non-Small-Cell Lung , Pathology , Therapeutics , Follow-Up Studies , Lung Neoplasms , Pathology , Therapeutics , Multivariate Analysis , Neoplasm Staging , Prognosis , Risk FactorsABSTRACT
Objective To investigate the long time prognosis of liver resection or transcatheter arterial chemoembolization(TACE) of Barcelona clinic liver cancer stage C(BCLC-C) patients who have portal vein tumor thrombsis.Methods Totally 86 BCLC-C patients who satisfied our including criteria from our surgical database of People's Hospital of Yichang City from January 2000 to September 2015 were selected as the research object.According to different treatment,86 patients were divided into liver resection group(n=50) and TACE group(n=36).The general information of two groups were compared.Cox multi-factors analysis and overall survival rate were calculated.ResultsThe long-term prognosis of liver resection group was better than that of TACE group(5-year OS:26% vs.0,P40 IU/L(HR:0.615,95%CI[0.488,1.206],P=0.013) as well as HBV-DNA>1 000(HR:1.204,95%CI:[0.920,2.540],P=0.038)were adverse factors for prognosis.ConclusionLiver resection is better than TACE for BCLC-C patients with portal vein tumor thrombosis.However,randomized controlled trial still need to be used to further confirm our conclusion.
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OBJECTIVE:To observe the efficacy and safety of rebamipide triple therapy in the treatment of gastric ulcer with bleeding. METHODS:130 patients with gastric ulcer with bleeding were randomly divided into control group(65 cases)and obser-vation group(65 cases). Control group received Omeprazole enteric-coated capsule 20 mg,orally,twice a day+Aluminum magne-sium carbonate tablet 500 mg,orally,once a day;observation group was additionally received Rebamipide tablet 0.1 g,orally,3 times a day. They were treated for 12 weeks. Clinical efficacy,remission time of belching,abdominal pain,bloating,hematemesis/hematochezia,clinical symptom score before and after treatment,rebleeding and the incidence of adverse reactions in 2 groups were observed. RESULTS:The total effective rate in observation group was significantly higher than control group,remission time of symptoms and signs were significantly shorter than control group,the incidence of rebleeding was significantly lower than con-trol group,with statistical significances (P0.05). After treatment,the clinical symptom scores in 2 groups were significantly lower than before,and observation group was lower than control group,with statistical significances (P0.05). CONCLUSIONS:Rebamipide triple therapy shows obvious short-term efficacy in the treat-ment of gastric ulcer with bleeding,which can effectively improve patients'gastrointestinal symptoms,reduce rebleeding risk,and does not increase the incidence of adverse reactions.
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Objective To explore the feasibility of single port laparoscopy in classification and treatment of Meckel's diverticulum in children and its guiding treatment.Methods The clinical data in 75 children cases of Meckel's diverticulum with symptoms treated in our hospital from Aug.2011 to Aug.2015 were retrospectively analyzed.Meckel's diverticulum was classified under single port laparoscopy.The operation modes were selected according to different classifications.The excised materials were submitted to the pathologic examination.Results Among 75 children cases,50 cases were the simple type of Meckel's diverticulum and 25 cases were complex type of Meckel's diverticulum.The average operative time in the simple type and complex type was (38.93±8.75) min and(55.64 ± 13.27) min respectively,average bleeding amounts were (46.58 ± 15.81) mL and (50.12 [16.90) mL respectively,average postoperative hospitalization time was (7.33±1.41)d and (7.52 ± 1.68)d respectively,the operative time in the simple type was less than that in the complex type(P＜0.05),the other two indexes had no statistical difference between the two groups(P＞0.05).The ectopic gastric mucosal pathological change was only seen in the simple type,while the inflammatory manifestation in the complex type had higher proportion.The main clinical manifestations were lower gestational tract bleeding and infection.The two groups all obtained follow up.One case of simple type appeared the symptoms of abdominal pain and hematochezia and was cured after the second operation.Conclusion Meckel's diverticulum can be divided into the simple type and complex type under single port laparoscopy.The operation mode can be selected according to different types.This method is safe and reliable and is worthy of being clinically promoted.