syndrome

摘要： Physical examination signs have not been well studied,and their accuracy and reliability in diagnosis remain unknown.The few studies available are limited in that the method of performing the sign was not stated,the technique used was not standardized,and the position of the appendix was not correlated with imaging or surgical findings.Some appendiceal signs were written in a non-English language and may not have been appropriately translated(e.g.,Blumberg-Shchetkin and Rovsing).In other cases,the sign described differs from the original report(e.g.,Rovsing,Blumberg-Shchetkin,and Cope sign,Murphy syndrome).Because of these studies limitations,gaps remain regarding the signs’utility in the bedside diagnosis of acute appendicitis.Based on the few studies available with these limitations in mind,the results suggest that a positive test is more likely to be found in acute appendicitis.However,a negative test does not exclude the diagnosis.Hence,these tests increase the likelihood of ruling in acute appendicitis when positive but are less helpful in ruling out disease when negative.Knowledge about the correct method of performing the sign may be a valuable adjunct to the surgeon in further increasing their pretest probability of disease.Furthermore,it may allow surgeons to study these signs further to better understand their role in clinical practice.In the interim,these signs should continue to be used as a tool to supplement the clinical diagnosis.

摘要： Objective: To critically evaluate and summarize the methodological quality of systematic reviews(SRs)and present objective and important outcomes on the effectiveness of traditional Chinese medicine(TCM) therapies, including Chinese herbal medicine(CHM), acupuncture, and moxibustion, for diarrheapredominant irritable bowel syndrome(IBS-D).Methods: We conducted a comprehensive literature search for SRs in 7 databases until April 16, 2022.Two reviewers independently extracted data and assessed the methodological quality of the reviews according to the Assessing the Methodological Quality of Systematic Reviews 2(AMSTAR-2), the Risk of Bias in Systematic reviews(ROBIS) tool, and the Preferred Reporting Item for Systematic Review and Meta-analysis(PRISMA) statement. The Grading of Recommendations, Assessment, Development, and Evaluation(GRADE) was used to rate the quality of evidence.Results: IBS-D patients included in 12 reviews were diagnosed in accordance with the Rome criteria, 9 reviews focused on CHM, 2 articles observed moxibustion and heat-sensitive moxibustion, 1 article studied acupuncture and CHM. The outcomes of the SRs were the effectiveness rate, the total effectiveness rate,global symptom improvement, and adverse effects. Based on AMSTAR-2, which measures the quality of methodology, all of the included studies were of low or critically low quality. According to the ROBIS tool, 10 SRs(83.33%) had a high risk of bias. With the PRISMA checklist, only 3 SRs reached over 90% compliance.Based on GRADE, most evidence was of low quality, and there was a moderate quality of evidence that the effectiveness rate of modified-Tongxie Yaofang was superior to Western medicine in the treatment of IBS-D.Conclusion: Given the suboptimal reporting and methodological quality of existing SRs, more studies are needed to clarify whether TCM therapies are more effective or safe than pharmacological medicine.Future studies should combine evidence-based medicine with TCM research according to the characteristics of TCM.

摘要： Esophageal cancer is one of the common malignant tumors in humans.Traditional Chinese medicine(TCM)has unique advantages in the treatment of esophageal cancer.However,the TCM syndrome classification of esophageal cancer is not standardized.This Delphi survey aimed to explore the TCM syndrome classification and symptom characteristics of esophageal cancer.Methods:Based on literature research,an expert consultation questionnaire was developed for the study of the TCM syndrome rules of esophageal cancer.Two rounds of questionnaire surveys were conducted among 62 experts across the country.Statistical description and statistical analysis of the mean,coefficient of variation,grade sum,and unimportant percentage of the retrieved data.TCM syndrome rules and diagnostic indicators for esophageal cancer after screening and sorting out the questionnaire items,convening experts to demonstrate.Results:62 valid questionnaires were collected,and the expert positive coefficient was 100%.The Kendall''s coefficient of concordance W of the first and second rounds are 0.232 and 0.2334 respectively.In addition,the Kendall''s coefficient of concordance W of the second round has been improved compared with the first round,suggesting that experts have a better degree of coordination on the importance of indicators.The common TCM syndromes of esophageal cancer are obtained:"liver-stomach disharmony,phlegm and qi obstruction syndrome","liver and spleen disorders,phlegm accumulating with stagnation syndrome","deficiency of liver and kidney yin,stubborn blood syndrome","deficiency of spleen and kidney yang,stubborn blood syndrome".Conclusion:The TCM syndrome indicators of esophageal cancer has been established.It provides a basis for the standardized research of TCM syndrome diagnosis of esophageal cancer,which is of positive significance for improving the level of clinical diagnosis and treatment.

摘要： The TRPM6 gene is associated with multifactorial diseases:diabetes mellitus,obesity,hypertension,components of the metabolic syndrome.The aim of this study is to test the association between TRPM6 rs2274924 gene,metabolic syndrome and S.aureus based on clinical data and biochemical,haematological,microbiological and genetic laboratory investigations in patients with type 2 diabetes mellitus.The TRPM6 gene sequencing was performed by the Advanced NGx assay based on clinical and laboratory data,on 152 subjects from Giurgiu County Emergency Hospital.The results were processed by the graph Pad prism 7 program,VMD.In conclusion,the TRPM6 rs2274924 gene is associated with metabolic syndrome and S.aureus.

摘要： Genetic syndromes represent relevant and rare diseases.These conditions include a large amount of epidemiological,pathogenetic and clinical features.However,a systematic approach to genetic syndromes is often prevented by the rareness of these diseases.So,although clinical features are usually precisely defined,nowadays more uncommon associations between genetic syndromes and internal medicine related diseases have been insufficiently studied.Autoimmune hepatitis(AIH)is a chronic liver disease caused by loss of tolerance to hepatocyte-specific auto-antigens.Conversely,a better knowledge about specific genetic syndromes in which AIH is more frequent could be important in the clinical management of patients,both for an early diagnosis and for a prompt therapy.Furthermore,a systematic approach could explain if onset,clinical course,and response to treatment of AIH are typical for specific genetic syndromes.We took in consideration all the scientific articles reported in PubMed in the last 10 years,from 2010 to 2020.The purpose of this review is to explore the prevalence of AIH in genetic syndrome,but also to suggest new classification,that could be useful for pathogenetic hypothesis and clinical approach to genetic syndrome.From the 139 publications selected using keywords“autoimmune hepatitis”and“genetic syndrome”,30 papers(21.6%)respected the chosen inclusion criteria,reporting the association between AIH in patients with a genetic syndrome.We have collected in all 47 patients with AIH and genetic syndrome,and with median age of 12.6-year-old.We suggest that when a patient presents a clinical picture of cryptogenic chronic hepatitis,that is unexplained,it is useful to explore differential diagnosis of AIH associated with genetic syndrome.Given the clinical relevance of this topic,further reports are needed to demonstrate our hypothesis and collect new evidence in this field.

摘要： Severe pneumonia is one of the most serious infectious diseases.Delayed intervention may lead to pulmonary fibrosis,which greatly threatens people’s life and health.Blood stasis syndrome is an important underlying syndrome throughout the evolution of severe pneumonia-pulmonary fibrosis.Xuebijing injection(XBJ)was developed under the theoretical system of“Three syndromes and three methods”,demonstrating a good efficacy in treating severe pneumonia and pulmonary fibrosis due to its effect of removing blood stasis and dispersing toxins.Previous studies have shown that XBJ can protect vascular endothelial function,improve coagulation function and regulate immunity by inhibiting inflammatory.Hence,the research hypothesis is put forward that XBJ treats blood stasis syndrome by removing blood stasis and dredging blood vessels,to inhibit the disease progress of severe pneumonia to pulmonary fibrosis.Further researches are need to confirm the function and explore the mechanism of XBJ.

摘要： After hospitalization,the patient faces a brief fragile period of susceptibility to disease and a high incidence of adverse events(re-admission or death,etc.),which is described by cardiologist Harlan M.Krumholz as post-hospital syndrome(PHS).PHS is characterized by the risk of early re-hospitalization towing to physiologic stressors from the initial admission,including disruption in sleep-wake cycles,inadequate pain control,deconditioning,and changes in nutritional status.Almost 1 in 6 patients hospitalized for acute myocardial infarction and 1 in 5 of those admitted for heart failure are readmitted within 30 days of discharge.Notably,only 10% and 35% are readmitted for the same diagnosis as that of the original hospitalization,respectively.Through a systematic review,this paper discusses the related concepts,hazards and influencing factors of PHS,and summarizes the counter measures based on the domestic status,in order to provide reference for domestic clinical medical personnel to formulate relevant measures to reduce the incidence of PHS.

摘要： BACKGROUND The challenges for inflammatory bowel disease(IBD)diagnostics are to discriminate it from gut conditions with similar symptoms such as irritable bowel syndrome(IBS),to distinguish IBD subtypes,to predict disease progression,and to establish the risk to develop colorectal cancer(CRC).Alterations in gut microbiota have been proposed as a source of information to assist in IBD diagnostics.Faecalibacterium prausnitzii(F.prausnitzii),its phylogroups,and Escherichia coli(E.coli)have been reported as potential biomarkers,but their performance in challenging IBD diagnostic situations remains elusive.We hypothesize that bacterial biomarkers based in these species may help to discriminate these conditions of complex diagnostics.AIM To evaluate the usefulness of indices calculated from the quantification of these species as biomarkers to aid in IBD diagnostics.METHODS A retrospective study of 131 subjects(31 controls(H);45 Crohn’s disease(CD),25 ulcerative colitis(UC),10 IBS,and 20 CRC patients)was performed to assess the usefulness of bacterial biomarkers in biopsies.Further,the performance of biomarkers in faeces was studied in 29 stool samples(19 CD,10 UC).Relative abundances of total F.prausnitzii(FP),its phylogroups(PHGI and PHGII),and E.coli(E)quantification were determined by qPCR.Loads were combined to calculate the FP-E index,the PHGI–E index and the PHGII-E index.Biomarkers accuracy to discriminate among conditions was measured by the area under the receiver operating characteristic curve(AUC).RESULTS In biopsies,FP-E index was good for discriminating IBS from CD(AUC=0.752)while PHGII-E index was suitable for discriminating IBS from UC(AUC=0.632).The FP-E index would be the choice to discriminate IBD from CRC,especially from all UC subtypes(AUC≥0.875),regardless of the activity status of the patient.Discrimination between UC patients that had the longest disease duration and those with CRC featured slightly lower AUC values.Concerning differentiation in IBD with shared location,PHGI-E index can establish progression from proctitis and left-sided colitis to ulcerative pancolitis(AUC≥0.800).PHG I-E index analysis in tissue would be the choice to discriminate within IBD subtypes of shared location(AUC≥0.712),while in non-invasive faecal samples FP or PHGI could be good indicators(AUC≥0.833).CONCLUSION F.prausnitzii phylogroups combined with E.coli offer potential to discriminate between IBD and CRC patients and can assist in IBD subtypes classification,which may help in solving IBD diagnostics challenges.

摘要： BACKGROUND Cardiovascular disease is the leading cause of death in patients with Turner syndrome(TS),and cardiovascular surgery is frequently required for management of these patients.TS is associated with medical comorbidities than can complicate the care of this patient population.AIM To describe the cardiovascular surgical outcomes of patients with TS.METHODS A retrospective case series was compiled of 51 consecutive TS patients who had at least one cardiovascular surgery at Mayo Clinic Rochester from 1977-2017.The baseline clinical data of these patients were reviewed including demographics,medical comorbidities,congenital heart disease history,and medications.Echocardiographic reports were analyzed in detail.Operative reports and surgical hospital courses were reviewed.Long-term mortality was determined using medical records and the Social Security Death Index.Survival analysis was performed with the Kaplan Meier method.RESULTS The cohort comprised 51 TS patients,average age at the time of surgery at Mayo Clinic was 28(8-41)years,and 23(45%)patients were under the age of 18.At the time of first Mayo Clinic surgery,18(35%)patients had previously undergone cardiac surgery at another institution.The most common procedures were repair of aortic coarctation in 14(28%)patients,aortic valve replacement in 6(12%)patients,and composite aortic root/ascending aorta replacement in 7(14%)patients,with 7 patients undergoing repair of more than one lesion.Aortic dissection required operative intervention in 5 patients.After initial Mayo Clinic surgery,subsequent operations were required in 6(13%)patients.Average hospital length of stay was 6±2 d.There were 4(8%)early surgical deaths.Freedom from death was 97%and 89%at 10 and 20 years,and the freedom from reoperation was 93%and 81%at 10 and 20 years.CONCLUSION Cardiovascular surgery is associated with 8%early mortality given the medical complexity of TS patients.Those who survive to dismissal have good survival.Later cardiovascular reoperations are not rare.

摘要： BACKGROUND Peutz-Jeghers syndrome(PJS)is a rare disease with clinical manifestations of pigmented spots on the lips,mucous membranes and extremities,scattered gastrointestinal polyps,and susceptibility to tumors.The clinical heterogeneity of PJS is obvious,and the relationship between clinical phenotype and genotype is still unclear.AIM To investigate the mutation status of hereditary colorectal tumor-associated genes in hamartoma polyp tissue of PJS patients and discuss its relationship with the clinicopathological data of PJS.METHODS Twenty patients with PJS were randomly selected for this study and were treated in the Air Force Medical Center(former Air Force General Hospital)PLA between 2008 and 2017.Their hamartoma polyp tissues were used for APC,AXIN2,BMPR1A,EPCAM,MLH1,MLH3,MSH2,MSH6,MUTYH,PMS1,PMS2,PTEN,SMAD4,and LKB1/STK11 gene sequencing using next-generation sequencing technology.The correlations between the sequencing results and clinical pathological data of PJS were analyzed.RESULTS Fourteen types of LKB1/STK11 mutations were detected in 16 cases(80.0%),of which 8 new mutations were found(3 types of frameshift deletion mutations:c.243delG,c.363_364delGA,and c.722delC;2 types of frameshift insertions:c.144_145insGCAAG,and c.454_455insC;3 types of splice site mutations:c.464+1G>T,c.464+1G>A,and c.598-1G>A);9 cases(45.0%)were found to have 18 types of heterozygous mutations in the remaining 13 genes except LKB1/STK11.Of these,MSH2:c.792+1G>A,MSH6:c.3689C>G,c.4001+13C>CTTAC,PMS1:c.46C>t,and c.922G>A were new mutations.CONCLUSION The genetic mutations in hamartoma polyp tissue of PJS are complex and diverse.Moreover,other gene mutations in PJS hamartoma polyp tissue were observed,with the exception of LKB1/STK11 gene,especially the DNA mismatch repair gene(MMR).Colorectal hamartoma polyps with LKB1/STK11 mutations were larger in diameter than those with other gene mutations.