AIM:To investigate the genetic basis of Weill-Marchesani syndrome(WMS)in a Chinese family and clarify the pathogenic mechanism of novel ADAMTS17 mutations.METHODS:Comprehensive clinical assessments and genetic analyse...AIM:To investigate the genetic basis of Weill-Marchesani syndrome(WMS)in a Chinese family and clarify the pathogenic mechanism of novel ADAMTS17 mutations.METHODS:Comprehensive clinical assessments and genetic analyses were performed on a Chinese family with two affected siblings.Whole-exome sequencing(WES)was conducted for the proband and other family members.Bioinformatics tools were used to evaluate the conservation,predicted pathogenicity,and structural effects of the identified ADAMTS17 variants.In addition,protein structure modeling was applied to assess the functional impacts of the mutations.RESULTS:The proband(a 32-year-old male)and his elder sister(42y)presented typical clinical features of WMS,including short stature,brachydactyly,high myopia,ectopia lentis,and secondary glaucoma.WES identified a novel compound heterozygous mutation in ADAMTS17:a splicing mutation(c.451-2A>G)inherited from the father and a missense mutation(c.1043G>A;p.C348Y)inherited from the mother.The splicing mutation disrupted normal mRNA splicing and processing,leading to premature translation termination.The missense mutation,which is located in the metalloprotease catalytic domain,was predicted to abolish a critical disulfide bond,thereby impairing protein stability.Both mutations exhibited high evolutionary conservation and were predicted to be pathogenic by multiple bioinformatics algorithms.CONCLUSION:A novel compound heterozygous mutation in ADAMTS17 is identified in this WMS-affected Chinese family,and its pathogenicity is verified via bioinformatics analysis and protein structural modeling.These findings are expected to facilitate the genetic diagnosis of WMS and deepen the understanding of its molecular pathogenesis.展开更多
Background:“Qi deficiency”(a pathological state where the body’s vital energy(Qi)is insufficient or weakened,impairing physiological functions and diminishing the body’s ability to perform daily activities,defend ...Background:“Qi deficiency”(a pathological state where the body’s vital energy(Qi)is insufficient or weakened,impairing physiological functions and diminishing the body’s ability to perform daily activities,defend against illness,and maintain homeostasis)syndrome is considered a critical syndrome in traditional Chinese medicine(TCM)and is associated with poor prognosis in heart failure(HF).This study investigates the clinical,metabolic,and transcriptomic differences between heart failure patients with and without Qi deficiency syndrome.Methods:56 heart failure patients were evaluated using a Qi deficiency syndrome scale and divided into Qi deficiency syndrome(QD)and non-Qi deficiency(non-QD)groups based on the median score.Clinical characteristics,including baseline N-terminal pro-B-type natriuretic peptide(NT-proBNP),left ventricular ejection fraction(LVEF),total diuretic use during hospitalization,and 90-day rehospitalization rates,were compared between the groups.Differentially expressed genes(DEGs)and differential metabolites were identified,followed by enrichment analyses and validation using qPCR and Western blot in AC16 cardiomyocytes.Results:QD patients exhibited significantly higher NT-proBNP levels,lower LVEF,and increased 90-day rehospitalization rates.Metabolomic profiling revealed lipid metabolism disruptions,notably in linoleic acid and phospholipid pathways.Transcriptomic analysis highlighted 17 DEGs,including CISD2,a critical mitochondrial regulator,which was downregulated in QD patients.Correlation analysis identified significant associations between DEGs(e.g.,CISD2,BPGM)and lipid metabolites such as PC(16:0/P-16:0).Functional knockdown of CISD2 in AC16 cells led to upregulation of lipid oxidation enzymes ALOX15 and CYP1A2,linking CISD2 dysfunction to lipid metabolic dysregulation.Conclusion:Qi deficiency is associated with more severe heart failure symptoms,worse prognosis,and distinct metabolic and transcriptomic profiles,particularly in lipid metabolism.CISD2 emerges as a potential therapeutic target,offering new avenues for integrating molecular insights with TCM approaches to optimize HF management.展开更多
Myalgic encephalomyelitis/chronic fatigue syndrome-an insidious disease:The recent COVID-19 pandemic has brought substantial attention to the overlapping symptoms between long COVID and myalgic encephalomyelitis/chron...Myalgic encephalomyelitis/chronic fatigue syndrome-an insidious disease:The recent COVID-19 pandemic has brought substantial attention to the overlapping symptoms between long COVID and myalgic encephalomyelitis/chronic fatigue syndrome(ME/CFS),a chronic and poorly understood neurological disorder(Shankar et al.,2024).展开更多
Interferon-related genes are involved in antiviral responses,inflammation,and immunity,which are closely related to sepsis-associated acute respiratory distress syndrome(ARDS).We analyzed 1972 participants with genoty...Interferon-related genes are involved in antiviral responses,inflammation,and immunity,which are closely related to sepsis-associated acute respiratory distress syndrome(ARDS).We analyzed 1972 participants with genotype data and 681 participants with gene expression data from the Molecular Epidemiology of ARDS(MEARDS),the Molecular Epidemiology of Sepsis in the ICU(MESSI),and the Molecular Diagnosis and Risk Stratification of Sepsis(MARS)cohorts in a three-step study focusing on sepsis-associated ARDS and sepsis-only controls.First,we identified and validated interferon-related genes associated with sepsis-associated ARDS risk using genetically regulated gene expression(GReX).Second,we examined the association of the confirmed gene(interferon regulatory factor 1,IRF1)with ARDS risk and survival and conducted a mediation analysis.Through discovery and validation,we found that the GReX of IRF1 was associated with ARDS risk(odds ratio[OR_(MEARDS)]=0.84,P=0.008;OR_(MESSI)=0.83,P=0.034).Furthermore,individual-level measured IRF1 expression was associated with reduced ARDS risk(OR=0.58,P=8.67×10^(-4)),and improved overall survival in ARDS patients(hazard ratio[HR_(28-day)]=0.49,P=0.009)and sepsis patients(HR_(28-day)=0.76,P=0.008).Mediation analysis revealed that IRF1 may enhance immune function by regulating the major histocompatibility complex,including HLA-F,which mediated more than 70%of protective effects of IRF1 on ARDS.The findings were validated by in vitro biological experiments including time-series infection dynamics,overexpression,knockout,and chromatin immunoprecipitation sequencing.Early prophylactic interventions to activate IRF1 in sepsis patients,thereby regulating HLA-F,may reduce the risk of ARDS and mortality,especially in severely ill patients.展开更多
BACKGROUND Familial adenomatous polyposis(FAP)is a disorder of autosomal dominant inheritance that is responsible for around 1%of colorectal cancer(CRC)cases.AIM To determine the mutation profile of FAP-specific to th...BACKGROUND Familial adenomatous polyposis(FAP)is a disorder of autosomal dominant inheritance that is responsible for around 1%of colorectal cancer(CRC)cases.AIM To determine the mutation profile of FAP-specific to the Hungarian population.METHODS This prospective single-center study enrolled patients with clinically suspected FAP or attenuated FAP(aFAP).Whole-exome next-generation sequencing was performed to detect variants of 50 FAP priority genes and 173 CRC predisposing genes or other CRC disease-associated genes.To identify larger deletions and insertions,a multiplex amplifiable probe hybridization technique was used.The identified genes were then classified according to the American College of Medical Genetics and Genomics guidelines.RESULTS A total of 26 index patients with clinically suspected FAP(n=21)and aFAP(n=5)were enrolled.APC gene alterations were confirmed in 92.31%of the cases(region 1B deletion,n=2;whole-gene deletion,n=4;frameshift mutation,n=2;nonsense mutation,n=5,and splice mutation,n=1),with the remaining two cases having CHEK2 and MSH3 gene alterations.According to pathogenicity,21 cases had pathogenic mutations,6 cases had likely pathogenic mutations,and 16 cases had variants of unknown significance(VUS).The most frequent of the latter were the POLE(n=5)and PIEZO1(n=4)gene variants.CONCLUSION Germline mutations in the APC gene were confirmed in more than 90%of Hungarian patients with clinically suspected FAP.Although the role of VUS genes is unclear,they are highly likely to play a role in the development of CRC.展开更多
It is challenging to diagnose isolated hyperbilirubinemia with rare and complex etiologies under the constraints of traditional testing conditions.Herein,we present a rare case of coexisting Gilbert syndrome(GS)and er...It is challenging to diagnose isolated hyperbilirubinemia with rare and complex etiologies under the constraints of traditional testing conditions.Herein,we present a rare case of coexisting Gilbert syndrome(GS)and erythropoietic protoporphyria(EPP),which has not been previously documented.CASE SUMMARY We present a rare case of coexisting GS and EPP in a 23-year-old Chinese male with a long history of jaundice and recently found splenomegaly.Serial nonspecific hemolysis screening tests yielded inconsistent results,and investigations for common hemolytic etiologies were negative.However,Levitt’s carbon monoxide breath test,which measures erythrocyte lifespan(the gold-standard marker of hemolysis),demonstrated significant hemolysis,revealing a markedly shortened erythrocyte lifespan of 11 days(normal average 120 days).Genetic testing subsequently confirmed EPP with a homozygous ferrochelatase gene mutation and GS with a heterozygous uridine diphosphate glucuronosyl trans-ferase 1A1 gene mutation.CONCLUSION The rapid,non-invasive Levitt’s carbon monoxide breath test resolved the diagnostic challenge posed by a rare and complex cause of hyperbilirubinemia.展开更多
Background:Panacis Quinquefolii Radix(PQR)is known for its ability to nourish“Qi”(it serves as the driving force for the functional activities of the body’s organs and meridians,promoting and regulating various phy...Background:Panacis Quinquefolii Radix(PQR)is known for its ability to nourish“Qi”(it serves as the driving force for the functional activities of the body’s organs and meridians,promoting and regulating various physiological functions)and“Yin”(it represents the material foundation of the human body.It plays a role in nourishing,moistening,and cooling the body).Notoginseng Radix et Rhizoma(NRR)is recognized for its properties of resolving blood stasis(it refers to a pathological condition characterized by impaired or stagnant blood circulation within the body).Changes in the compatibility ratio of these herbs often lead to variations in their chemical composition and efficacy.However,the specific alterations in chemical composition and efficacy resulting from compatibility adjustments remain unclear.We aimed to compare the material basis and their effects of different compatibility ratios of PQR and NRR on“Qi”deficiency and blood stasis syndrome(QBS).Methods:This study employed UPLC-Q/TOF-MS to identify effective compounds in the compatibility of PQR and NRR and utilized UPLC-TQ-MS/MS to analyze the dissolution of 16 saponins in PQR and NRR at 9 different ratios.A rat model of QBS was established,and the efficacy of PQR and NRR in treating this syndrome was assessed using hemorheology and coagulation analyses.Results:The study results show that PQR and NRR exhibit significant efficacy,effectively reducing blood viscosity induced by platelet aggregation and lowering inflammatory markers such as IL-6,IL-10,TXB2 and ET associated with vascular injury.Moreover,this combination regulates ATP and ADP levels,enhances energy metabolism,and promotes overall health.A total of 104 compounds in the compatibility of PQR and NRR were identified.The ratios of 1:2 and 1:3 showed the highest total saponin content,but the ratio of 1:1 demonstrated a superior pharmacological effect for the treatment of QBS.Conclusion:In summary,the compatibility of PQR and NRR not only shows the complex interactions between traditional Chinese medicinal materials,but also provides a new idea and method for the treatment of QBS.展开更多
Acute respiratory distress syndrome(ARDS)is a life-threatening condition that is characterized by high mortality rates and limited therapeutic options.Notably,Zhang et al demonstrated that CD146+mesenchymal stromal ce...Acute respiratory distress syndrome(ARDS)is a life-threatening condition that is characterized by high mortality rates and limited therapeutic options.Notably,Zhang et al demonstrated that CD146+mesenchymal stromal cells(MSCs)exhibited greater therapeutic efficacy than CD146-MSCs.These cells enhance epithelial repair through nuclear factor kappa B/cyclooxygenase-2-associated paracrine signaling and secretion of pro-angiogenic factors.We concur that MSCs hold significant promise for ARDS treatment;however,the heterogeneity of cell products is a translational barrier.Phenotype-aware strategies,such as CD146 enrichment,standardized potency assays,and extracellular vesicle profiling,are essential for improving the consistency of these studies.Further-more,advanced preclinical models,such as lung-on-a-chip systems,may provide more predictive insights into the therapeutic mechanisms.This article underscores the importance of CD146+MSCs in ARDS,emphasizes the need for precision in defining cell products,and discusses how integrating subset selection into translational pipelines could enhance the clinical impact of MSC-based therapies.展开更多
BACKGROUND Phelan-McDermid syndrome(PMS)is a rare genetic disorder characterized by intellectual disability,delayed language development,autism spectrum disorders,motor tone abnormalities,and a high risk of psychiatri...BACKGROUND Phelan-McDermid syndrome(PMS)is a rare genetic disorder characterized by intellectual disability,delayed language development,autism spectrum disorders,motor tone abnormalities,and a high risk of psychiatric symptoms,including bipolar disorder.CASE SUMMARY This report presented an 18-year clinical history of a 36-year-old woman with PMS,marked by intellectual disabilities,social withdrawal,and stereotyped behaviors.Diagnosed with bipolar disorder at the age of 18 years old,she encountered significant treatment challenges,including severe adverse reactions to antipsychotic medications in 2022,which led to speech and functional regression.Through rehabilitation and comprehensive therapy,her condition gradually improved.In 2024,after further treatment,her symptoms stabilized,highlighting the complexities and successes of long-term management.CONCLUSION Effective management of PMS requires a thorough clinical history,genetic testing,and long-term supportive care.展开更多
OBJECTIVE:To reach consensus on the diagnostic criteria of syndrome of dampness obstruction in idiopathic membranous nephropathy(IMN)patients by literature research and expert investigation(interviews and a Delphi met...OBJECTIVE:To reach consensus on the diagnostic criteria of syndrome of dampness obstruction in idiopathic membranous nephropathy(IMN)patients by literature research and expert investigation(interviews and a Delphi method).METHODS:Our study was consistent with T/CACM 1336-2020.We searched the monographs and references published in the past 40 years(1983-2022),and established the diagnostic criteria pool of waterdampness syndrome and dampness-turbidity syndrome in Traditional Chinese Medicine(TCM)based on literature by using frequency statistics and correlation analysis.Expert investigation(interview method and two rounds of Delphi method)was used to form the diagnostic criteria of water-dampness syndrome and dampnessturbidity syndrome of idiopathic membranous nephropathy.Clinical diagnostic test research was carried out,and compared with“Diagnostic Criteria for dampness syndrome”(T/CACM 1454-2023)to evaluate the authenticity,reliability and clinical application value of the standard.RESULTS:A total of 122 relevant guides,standards,monographs and documents were included through searching books and Chinese databases.Four experts were interviewed and two rounds of delphi method(75 experts nationwide)were carried out.The experts'opinions are relatively concentrated and the differences are small.Based on the weight of each index,the diagnostic criteria indexes of water-dampness syndrome and dampness-turbidity syndrome were selected.After discussion by the core group members,the diagnostic model of"necessary symptoms and optional symptoms"was established,and the final diagnostic criteria of waterdampness syndrome and dampness-turbidity syndrome were established.One hundred and ninety-one inpatients and outpatients of Guangdong Provincial Hospital of Chinese Medicine from January 2021 to February 2023 were included in Diagnostic test study.There was no statistical difference in gender,age and course of disease(P>0.05).The sensitivity and specificity of the trial standard were 90.34%and 73.33%respectively,while the sensitivity and specificity of T/CACM 1454-2023 were 99.43%and 6.67%,respectively.CONCLUSIONS:The consensus-based diagnostic criteria for IMN can be widely incorporated in TCM.A further clinical study will be conducted to analyze the diagnosis value and cut-off score of our IMN criteria.展开更多
Objective:To evaluate the value of rehabilitation nursing based on mind mapping model combined with psychological intervention for patients with nephrotic syndrome(NS).Methods:A total of 60 patients with NS who visite...Objective:To evaluate the value of rehabilitation nursing based on mind mapping model combined with psychological intervention for patients with nephrotic syndrome(NS).Methods:A total of 60 patients with NS who visited our hospital from January 2024 to December 2024 were selected as samples and randomly divided into groups.The observation group received rehabilitation nursing based on the mind mapping model combined with psychological intervention,while the control group received routine intervention.The differences in emotional scores,self-care ability scores,compliance,and complications were compared between the two groups.Results:The anxiety(SAS)and depression(SDS)scores of the observation group were lower than those of the control group,while the self-care ability scale(ESCA)score was higher than that of the control group(P<0.05).The compliance rate of the observation group was higher than that of the control group(P<0.05).The complication rate of NS in the observation group was lower than that in the control group(P<0.05).Conclusion:Rehabilitation nursing based on the mind mapping model combined with psychological intervention can enhance self-care ability,reduce negative emotions,and reduce complications in NS nursing,which is efficient and feasible.展开更多
Objective To explore the clinical characteristics and methods for syndrome differentiation prediction,as well as to construct a predictive model for Qi deficiency and blood stasis syndrome in patients with acute ische...Objective To explore the clinical characteristics and methods for syndrome differentiation prediction,as well as to construct a predictive model for Qi deficiency and blood stasis syndrome in patients with acute ischemic stroke(AIS).Methods This study employed a retrospective case-control design to analyze patients with AIS who received inpatient treatment at the Neurology Department of The First Hospital of Hunan University of Chinese Medicine from January 1,2013 to December 31,2022.AIS patients meeting the diagnostic criteria for Qi deficiency and blood stasis syndrome were stratified into case group,while those without Qi deficiency and blood stasis syndrome were stratified into control group.The demographic characteristics(age and gender),clinical parameters[time from onset to admission,National Institutes of Health Stroke Scale(NIHSS)score,and blood pressure],past medical history,traditional Chinese medicine(TCM)diagnostic characteristics(tongue and pulse),neurological symptoms and signs,imaging findings[magnetic resonance imaging-diffusion weighted imaging(MRI-DWI)],and biochemical indicators of the two groups were collected and compared.The indicators with statistical difference(P<0.05)in univariate analysis were included in multivariate logistic regression analysis to evaluate their predictive value for the diagnosis of Qi deficiency and blood stasis syndrome,and the predictive model was constructed by receiver operating characteristic(ROC)curve analysis.Results The study included 1035 AIS patients,with 404 cases in case group and 631 cases in control group.Compared with control group,patients in case group were significantly older,had extended onset-to-admission time,lower diastolic blood pressure,and lower NIHSS scores(P<0.05).Case group showed lower incidence of hypertension history(P<0.05).Regarding tongue and pulse characteristics,pale and dark tongue colors,white tongue coating,fine pulse,astringent pulse,and sinking pulse were more common in case group.Imaging examinations demonstrated higher proportions of centrum semiovale infarction,cerebral atrophy,and vertebral artery stenosis in case group(P<0.05).Among biochemical indicators,case group showed higher proportions of elevated fasting blood glucose and glycated hemoglobin(HbA1c),while lower proportions of elevated white blood cell count,reduced hemoglobin,and reduced high-density lipoprotein cholesterol(HDL-C)(P<0.05).Multivariate logistic regression analysis identified significant predictors for Qi deficiency and blood stasis syndrome including:fine pulse[odds ratio(OR)=4.38],astringent pulse(OR=3.67),superficial sensory abnormalities(OR=1.86),centrum semiovale infarction(OR=1.57),cerebral atrophy(OR=1.55),vertebral artery stenosis(OR=1.62),and elevated HbA1c(OR=3.52).The ROC curve analysis of the comprehensive prediction model yielded an area under the curve(AUC)of 0.878[95%confidence interval(CI)=0.855-0.900].Conclusion This study finds out that Qi deficiency and blood stasis syndrome represents one of the primary types of AIS.Fine pulse,astringent pulse,superficial sensory abnormalities,centrum semiovale infarction,cerebral atrophy,vertebral artery stenosis,elevated blood glucose,elevated HbA1c,pale and dark tongue colors,and white tongue coating are key objective diagnostic indicators for the syndrome differentiation of AIS with Qi deficiency and blood stasis syndrome.Based on these indicators,a syndrome differentiation prediction model has been developed,offering a more objective basis for clinical diagnosis,and help to rapidly identify this syndrome in clinical practice and reduce misdiagnosis and missed diagnosis.展开更多
Background:It is found to have association of facial parameters with trisomy 21 fetuses(T 21).We have compared prenasal thickness(PNT),nasal bone length(NBL),and the PNT:NBL ratio of normal fetuses with fetuses with t...Background:It is found to have association of facial parameters with trisomy 21 fetuses(T 21).We have compared prenasal thickness(PNT),nasal bone length(NBL),and the PNT:NBL ratio of normal fetuses with fetuses with trisomy 21(T 21)between 16 and 25 weeks of gestation as a diagnostic tool for T 21.Methods:Facial profile images in the two dimensional(2D)gray scale were assessed to measure fetal NBL and PNT between 16 and 25 weeks of gestation.The PNT:NBL ratio of the fetuses was calculated.Nomograms were constructed from the data of morphologically normal fetuses at live birth.The PNT,NBL,and PNT:NBL ratio of fetuses with confirmed T 21(n=31)and morphologically normal fetuses at live birth(controls,n=3485)were compared.Results:Nomograms for PNT,NBL,and the PNT:NBL ratio were constructed.In T 21 fetuses,PNT(>95th percentile),NBL(<5th percentile),and the PNT:NBL ratio(>95th percentile)showed a sensitivity of 25%,29%,and 45%for PNT,NBL,and PNT:NBL,respectively,and specificity of 95%,96%,and 94%,for PNT,NBL,and PNT:NBL,respectively.All of these markers showed a negative predictive value of 99%.Conclusion:PNT,NBL,and the PNT:NBL ratio have high diagnostic value for fetuses with Down syndrome and can be incorporated easily in the current second trimester screening protocol for T 21.PNT,NBL,and the PNT:NBL ratio are more specific markers for Down syndrome than those used in previous studies.展开更多
BACKGROUND Irritable bowel syndrome with predominant constipation(IBS-C)is a chronic gastrointestinal disorder that significantly impacts the quality of life of patients and currently lacks a definitive treatment.The ...BACKGROUND Irritable bowel syndrome with predominant constipation(IBS-C)is a chronic gastrointestinal disorder that significantly impacts the quality of life of patients and currently lacks a definitive treatment.The use of electroacupuncture(EA)has demonstrated clinical efficacy in treating IBS-C and the gut-brain axis modulation,though its mechanisms remain unclear.AIM To investigate gut-brain-microbiota axis alteration and EA-associated microbial changes in IBS-C patients and treatment responders.METHODS This study consisted of two phases.The first phase was a cross-sectional study recruiting sixteen IBS-C patients and 16 healthy controls.Baseline fecal samples were collected to assess gut microbiota profiles between the two groups.The second phase was an observational longitudinal study in which the 16 IBS-C patients underwent nine EA sessions over one month.Gut microbiota profiles and clinical outcomes were assessed post-treatment course and at a one-month follow-up.RESULTS IBS-C patients exhibited significant gut dysbiosis,as indicated by altered beta diversity compared to healthy controls.EA significantly improved clinical outcomes and gut dysbiosis,with sustained therapeutic effects and normalization of neurotransmitter-related metabolic pathways observed at one-month follow-up.Notably,the gut bacterium Senegalimassilia was positively associated with symptom improvement,suggesting its potential as a predictive biomarker of EA responsiveness.CONCLUSION These findings support the integration of EA into IBS-C management and highlight Senegalimassilia as a candidate microbial biomarker for treatment response.展开更多
OBJECTIVE:To explore the efficacy and safety of acupuncture combined with atlantoaxial joint bone-setting therapy for the treatment of Tourette syndrome.METHODS:We randomly divided 600 patients at a ratio of 1∶1∶1 i...OBJECTIVE:To explore the efficacy and safety of acupuncture combined with atlantoaxial joint bone-setting therapy for the treatment of Tourette syndrome.METHODS:We randomly divided 600 patients at a ratio of 1∶1∶1 into three groups:group A(acupuncture combined with atlantoaxial joint bone setting therapy group),group B(acupuncture group),and group C(tiapride group).After two months of treatment,the Yale global tic severity scale(YGTSS)score reduction,improvement in social function impairment,clinical efficacy,and long-term efficacy in the three groups were compared.RESULTS:After treatment,in the analysis of YGTSS score reduction,social function impairment improvement,the clinical control rate,and long-term efficacy,the results were all Group A>Group B>Group C,with a statistically significant difference(P<0.05).However,the total clinical efficacy of treatment in group A(94.9%)was not significantly different from that in group B(91.8%).Adverse reactions did not occur in groups A and B,and several adverse reactions occurred in 29%(n=58)of the group C patients.CONCLUSION:Compared with traditional drug therapy,acupuncture combined with atlantoaxial joint bone setting therapy has better clinical and long-term efficacy.This treatment strategy can improve the social function of children and prevent adverse reactions to drugs.展开更多
PURPOSE:To investigate the differences in gut microbial characteristics between two traditional Chinese syndromes of premature ovarian insufficiency(POI).METHODS:Forty women with POI were recruited from the Department...PURPOSE:To investigate the differences in gut microbial characteristics between two traditional Chinese syndromes of premature ovarian insufficiency(POI).METHODS:Forty women with POI were recruited from the Department of Traditional Chinese Medicine at Shenzhen Maternity and Child Healthcare Hospital between June and December 2020.Women with POI were divided into the kidney deficiency and blood stasis syndrome(SDBS)and Qi and blood deficiency syndrome(QBDS)groups.Gut microbial community profiles were analyzed by 16S rRNA gene sequencing using an Illumina Mi Seq system.A retrospective study comparing hormone levels and gut microbiota information was performed between the SDBS and QBDS groups.RESULTS:Compared with the QBDS group,the serum levels of estradiol(E2)and anti-Müllerian hormone(AMH)were significantly decreased in the SDBS group.The quantities of Adlercreutzia,Eggerthella,Klebsiella,and Paraprevotella significantly increased in the SDBS group,whereas Lactobacillus decreased significantly.Moreover,alterations in the microbiome in the SDBS and QBDS groups were closely related to the levels of E2 and AMH.The area under the receiver operating characteristic curve for the classification of the two syndromes by the gut microbiome was 0.71.CONCLUSIONS:There were significant differences in the dominant microbiota between the SDBS and QBDS groups,and the change in Proteobacteria in the QBDS group was more significant.The characteristics of gut microbiota help us differentiate between the SDBS and QBDS groups,which may provide a basis for the objectification of TCM syndrome types.展开更多
BACKGROUND Restless legs syndrome(RLS)is characterized by an urge to move with an unpleasant sensation in the lower limbs.RLS typically affects the legs.However,it can also affect several other body regions,such as th...BACKGROUND Restless legs syndrome(RLS)is characterized by an urge to move with an unpleasant sensation in the lower limbs.RLS typically affects the legs.However,it can also affect several other body regions,such as the arms,abdomen,face,neck,head,and genital area.There are only a few reports of the RLS variant affecting the head.AIM To assess the epidemiological,clinical,and other aspects of the RLS variant affecting the head.METHODS We conducted a retrospective study of 17 adult patients(>18 years)who met the RLS criteria and simultaneously experienced RLS-like symptoms in the head.RESULTS The median age at which symptoms appeared was 41.6 years.Males and females were equally affected(1.1:1).All 17 patients had uncomfortable sensations in the lower legs.Insomnia or disturbed sleep was the most common comorbidity(n=16,88.2%).However,headache was the most common presenting or primary symptom(n=10,70.5%).Dizziness or an abnormal sensation in the head was the second most common presenting symptom(5 patients,29.4%).Other presenting features were leg pain,backache,and generalized body pain.All patients responded favorably to dopaminergic medications.CONCLUSION If RLS-related unpleasant sensations and pain are felt in the head,they may be misinterpreted as headache,dizziness,or psychosomatic symptoms.RLS and headaches in a subset of patients may be two phenotypic manifestations of the same disorder.展开更多
BACKGROUND Acute respiratory distress syndrome(ARDS)is a critical condition characterized by acute hypoxemia,non-cardiogenic pulmonary edema,and decreased lung compliance.The Berlin definition,updated in 2012,classifi...BACKGROUND Acute respiratory distress syndrome(ARDS)is a critical condition characterized by acute hypoxemia,non-cardiogenic pulmonary edema,and decreased lung compliance.The Berlin definition,updated in 2012,classifies ARDS severity based on the partial pressure of arterial oxygen/fractional inspired oxygen fraction ratio.Despite various treatment strategies,ARDS remains a significant public health concern with high mortality rates.AIM To evaluate the implications of driving pressure(DP)in ARDS management and its potential as a protective lung strategy.METHODS We conducted a systematic review using databases including EbscoHost,MEDLINE,CINAHL,PubMed,and Google Scholar.The search was limited to articles published between January 2015 and September 2024.Twenty-three peer-reviewed articles were selected based on inclusion criteria focusing on adult ARDS patients undergoing mechanical ventilation and DP strategies.The literature review was conducted and reported according to PRISMA 2020 guidelines.RESULTS DP,the difference between plateau pressure and positive end-expiratory pressure,is crucial in ARDS management.Studies indicate that lower DP levels are significantly associated with improved survival rates in ARDS patients.DP is a better predictor of mortality than tidal volume or positive end-expiratory pressure alone.Adjusting DP by optimizing lung compliance and minimizing overdistension and collapse can reduce ventilator-induced lung injury.CONCLUSION DP is a valuable parameter in ARDS management,offering a more precise measure of lung stress and strain than traditional metrics.Implementing DP as a threshold for safety can enhance protective ventilation strategies,po-tentially reducing mortality in ARDS patients.Further research is needed to refine DP measurement techniques and validate its clinical application in diverse patient populations.展开更多
BACKGROUND Food protein-induced enterocolitis syndrome(FPIES)is the most serious type of non-immunoglobulin E(IgE)-mediated food allergic reaction manifesting as sepsis-like symptom,which can lead to shock.Saccharomyc...BACKGROUND Food protein-induced enterocolitis syndrome(FPIES)is the most serious type of non-immunoglobulin E(IgE)-mediated food allergic reaction manifesting as sepsis-like symptom,which can lead to shock.Saccharomyces boulardii(S.boulardii),a probiotic prescribed frequently in clinical settings,has been reported to trigger FPIES in an infant with soy-triggered FPIES.In this report,we describe a new clinical FPIES in which S.boulardii was the sole triggering factor of acute FPIES adverse reaction in seven healthy infants.CASE SUMMARY Seven FPIES cases triggered by only S.boulardii were gathered from 2011 to the present.None of the patients had previously experienced any allergic reaction to cow’s milk,soy,or complementary food.The age of the patients was 4-10-months old,and the symptoms of FPIES developed after ingestion of S.boulardii,which is mostly prescribed for the treatment of gastroenteritis or antibiotic-associated diarrhea.All patients experienced severe repetitive vomiting 1-3 hours after S.boulardii ingestion.Extreme lethargy,marked pallor,and cyanosis were also observed.No IgE-mediated hypersensitivity developed in any patient.Diarrhea was followed by initial intense vomiting in approximately 5-10 hours after S.boulardii ingestion,and only one case showed bloody,purulent,and foul-smelling diarrhea.The patients stabilized quickly,mostly within 6 hours.Symptoms got all improved within 24 hours after discontinuation of S.boulardii.CONCLUSION S.boulardii can be the sole trigger of acute FPIES and be prescribed cautiously even in healthy children without FPIES.展开更多
BACKGROUND Serrated polyposis syndrome(SPS)is a polyposis condition with neoplastic potential,but its psychological impact is not well understood.AIM To assess health anxiety prevalence in a regional Australian cohort...BACKGROUND Serrated polyposis syndrome(SPS)is a polyposis condition with neoplastic potential,but its psychological impact is not well understood.AIM To assess health anxiety prevalence in a regional Australian cohort of SPS patients and explore factors influencing it,including workforce impacts of regular surveillance.METHODS This cross-sectional study screened patients aged 18-65 undergoing colonoscopy in a regional gastroenterology practice between January 2015 and June 2022.Eligible SPS patients were invited to participate.Data included the Short Health Anxiety Inventory,employment status,and previous demographic and medical findings.RESULTS Health anxiety was found in 21.57%of SPS patients,with anxious patients being significantly more concerned about surveillance(OR=7.70).Patients lost an average of 11.04 work hours per colonoscopy.CONCLUSION Health anxiety in SPS patients aligns with rates in other gastroenterology populations.Identifying it may improve management,though further research is needed to better understand prevalence and care improvements.展开更多
文摘AIM:To investigate the genetic basis of Weill-Marchesani syndrome(WMS)in a Chinese family and clarify the pathogenic mechanism of novel ADAMTS17 mutations.METHODS:Comprehensive clinical assessments and genetic analyses were performed on a Chinese family with two affected siblings.Whole-exome sequencing(WES)was conducted for the proband and other family members.Bioinformatics tools were used to evaluate the conservation,predicted pathogenicity,and structural effects of the identified ADAMTS17 variants.In addition,protein structure modeling was applied to assess the functional impacts of the mutations.RESULTS:The proband(a 32-year-old male)and his elder sister(42y)presented typical clinical features of WMS,including short stature,brachydactyly,high myopia,ectopia lentis,and secondary glaucoma.WES identified a novel compound heterozygous mutation in ADAMTS17:a splicing mutation(c.451-2A>G)inherited from the father and a missense mutation(c.1043G>A;p.C348Y)inherited from the mother.The splicing mutation disrupted normal mRNA splicing and processing,leading to premature translation termination.The missense mutation,which is located in the metalloprotease catalytic domain,was predicted to abolish a critical disulfide bond,thereby impairing protein stability.Both mutations exhibited high evolutionary conservation and were predicted to be pathogenic by multiple bioinformatics algorithms.CONCLUSION:A novel compound heterozygous mutation in ADAMTS17 is identified in this WMS-affected Chinese family,and its pathogenicity is verified via bioinformatics analysis and protein structural modeling.These findings are expected to facilitate the genetic diagnosis of WMS and deepen the understanding of its molecular pathogenesis.
基金supported by the Sanming Project of Medicine in Shenzhen[SZZYSM202206001]National Natural Science Foundation of China[82004320 and 82374383]+3 种基金Natural Science Foundation of Guangdong Province of China[2022A1515011710 and 2022A1515010679]Shenzhen Science and Technology Innovation Committee[JCYJ20220530141407017 and JCYJ20240813153619026]2024 High-quality Development Research Project of Shenzhen Bao’an Public Hospital[YNXM2024078]and Shenzhen Bao’an Chinese Medicine Hospital Research Program[BAZYY20220702].
文摘Background:“Qi deficiency”(a pathological state where the body’s vital energy(Qi)is insufficient or weakened,impairing physiological functions and diminishing the body’s ability to perform daily activities,defend against illness,and maintain homeostasis)syndrome is considered a critical syndrome in traditional Chinese medicine(TCM)and is associated with poor prognosis in heart failure(HF).This study investigates the clinical,metabolic,and transcriptomic differences between heart failure patients with and without Qi deficiency syndrome.Methods:56 heart failure patients were evaluated using a Qi deficiency syndrome scale and divided into Qi deficiency syndrome(QD)and non-Qi deficiency(non-QD)groups based on the median score.Clinical characteristics,including baseline N-terminal pro-B-type natriuretic peptide(NT-proBNP),left ventricular ejection fraction(LVEF),total diuretic use during hospitalization,and 90-day rehospitalization rates,were compared between the groups.Differentially expressed genes(DEGs)and differential metabolites were identified,followed by enrichment analyses and validation using qPCR and Western blot in AC16 cardiomyocytes.Results:QD patients exhibited significantly higher NT-proBNP levels,lower LVEF,and increased 90-day rehospitalization rates.Metabolomic profiling revealed lipid metabolism disruptions,notably in linoleic acid and phospholipid pathways.Transcriptomic analysis highlighted 17 DEGs,including CISD2,a critical mitochondrial regulator,which was downregulated in QD patients.Correlation analysis identified significant associations between DEGs(e.g.,CISD2,BPGM)and lipid metabolites such as PC(16:0/P-16:0).Functional knockdown of CISD2 in AC16 cells led to upregulation of lipid oxidation enzymes ALOX15 and CYP1A2,linking CISD2 dysfunction to lipid metabolic dysregulation.Conclusion:Qi deficiency is associated with more severe heart failure symptoms,worse prognosis,and distinct metabolic and transcriptomic profiles,particularly in lipid metabolism.CISD2 emerges as a potential therapeutic target,offering new avenues for integrating molecular insights with TCM approaches to optimize HF management.
基金supported by the Judith Jane Mason and Harold Stannett Williams Memorial Foundation National Medical Program(#Mason2210)to JX。
文摘Myalgic encephalomyelitis/chronic fatigue syndrome-an insidious disease:The recent COVID-19 pandemic has brought substantial attention to the overlapping symptoms between long COVID and myalgic encephalomyelitis/chronic fatigue syndrome(ME/CFS),a chronic and poorly understood neurological disorder(Shankar et al.,2024).
基金supported by the National Natural Science Foundation of China(Grant No.82220108002 to F.C.and Grant No.82273737 to R.Z.)the U.S.National Institutes of Health(Grant Nos.CA209414,HL060710,and ES000002 to D.C.C.,Grant Nos.CA209414 and CA249096 to Y.L.)+1 种基金the Priority Academic Program Development of Jiangsu Higher Education Institutions(PAPD)supported by the Qing Lan Project of the Higher Education Institutions of Jiangsu Province and the Outstanding Young Level Academic Leadership Training Program of Nanjing Medical University.
文摘Interferon-related genes are involved in antiviral responses,inflammation,and immunity,which are closely related to sepsis-associated acute respiratory distress syndrome(ARDS).We analyzed 1972 participants with genotype data and 681 participants with gene expression data from the Molecular Epidemiology of ARDS(MEARDS),the Molecular Epidemiology of Sepsis in the ICU(MESSI),and the Molecular Diagnosis and Risk Stratification of Sepsis(MARS)cohorts in a three-step study focusing on sepsis-associated ARDS and sepsis-only controls.First,we identified and validated interferon-related genes associated with sepsis-associated ARDS risk using genetically regulated gene expression(GReX).Second,we examined the association of the confirmed gene(interferon regulatory factor 1,IRF1)with ARDS risk and survival and conducted a mediation analysis.Through discovery and validation,we found that the GReX of IRF1 was associated with ARDS risk(odds ratio[OR_(MEARDS)]=0.84,P=0.008;OR_(MESSI)=0.83,P=0.034).Furthermore,individual-level measured IRF1 expression was associated with reduced ARDS risk(OR=0.58,P=8.67×10^(-4)),and improved overall survival in ARDS patients(hazard ratio[HR_(28-day)]=0.49,P=0.009)and sepsis patients(HR_(28-day)=0.76,P=0.008).Mediation analysis revealed that IRF1 may enhance immune function by regulating the major histocompatibility complex,including HLA-F,which mediated more than 70%of protective effects of IRF1 on ARDS.The findings were validated by in vitro biological experiments including time-series infection dynamics,overexpression,knockout,and chromatin immunoprecipitation sequencing.Early prophylactic interventions to activate IRF1 in sepsis patients,thereby regulating HLA-F,may reduce the risk of ARDS and mortality,especially in severely ill patients.
基金Supported by the Research Grants of the National Research,Development and Innovation Office,No.K125377,No.K134863 and No.K143549New National Excellence Program of the Ministry of Human Capacities,No.UNKP-20-5-SZTE-161,No.UNKP-22-3-SZTE-233,No.UNKP-23-5-SZTE-719,No.UNKP-22-4-SZTE-296 and No.UNKP-22-3-SZTE-278+1 种基金Janos Bolyai Research Grant,No.BO/00723/22the Géza Hetényi Research Grant by Albert Szent-Györgyi Medical School,University of Szeged.
文摘BACKGROUND Familial adenomatous polyposis(FAP)is a disorder of autosomal dominant inheritance that is responsible for around 1%of colorectal cancer(CRC)cases.AIM To determine the mutation profile of FAP-specific to the Hungarian population.METHODS This prospective single-center study enrolled patients with clinically suspected FAP or attenuated FAP(aFAP).Whole-exome next-generation sequencing was performed to detect variants of 50 FAP priority genes and 173 CRC predisposing genes or other CRC disease-associated genes.To identify larger deletions and insertions,a multiplex amplifiable probe hybridization technique was used.The identified genes were then classified according to the American College of Medical Genetics and Genomics guidelines.RESULTS A total of 26 index patients with clinically suspected FAP(n=21)and aFAP(n=5)were enrolled.APC gene alterations were confirmed in 92.31%of the cases(region 1B deletion,n=2;whole-gene deletion,n=4;frameshift mutation,n=2;nonsense mutation,n=5,and splice mutation,n=1),with the remaining two cases having CHEK2 and MSH3 gene alterations.According to pathogenicity,21 cases had pathogenic mutations,6 cases had likely pathogenic mutations,and 16 cases had variants of unknown significance(VUS).The most frequent of the latter were the POLE(n=5)and PIEZO1(n=4)gene variants.CONCLUSION Germline mutations in the APC gene were confirmed in more than 90%of Hungarian patients with clinically suspected FAP.Although the role of VUS genes is unclear,they are highly likely to play a role in the development of CRC.
文摘It is challenging to diagnose isolated hyperbilirubinemia with rare and complex etiologies under the constraints of traditional testing conditions.Herein,we present a rare case of coexisting Gilbert syndrome(GS)and erythropoietic protoporphyria(EPP),which has not been previously documented.CASE SUMMARY We present a rare case of coexisting GS and EPP in a 23-year-old Chinese male with a long history of jaundice and recently found splenomegaly.Serial nonspecific hemolysis screening tests yielded inconsistent results,and investigations for common hemolytic etiologies were negative.However,Levitt’s carbon monoxide breath test,which measures erythrocyte lifespan(the gold-standard marker of hemolysis),demonstrated significant hemolysis,revealing a markedly shortened erythrocyte lifespan of 11 days(normal average 120 days).Genetic testing subsequently confirmed EPP with a homozygous ferrochelatase gene mutation and GS with a heterozygous uridine diphosphate glucuronosyl trans-ferase 1A1 gene mutation.CONCLUSION The rapid,non-invasive Levitt’s carbon monoxide breath test resolved the diagnostic challenge posed by a rare and complex cause of hyperbilirubinemia.
基金funded by the Entrusted service project of Shaanxi Administration of Traditional Chinese Medicine(ZYJXG-L23001)2023 Sanqin Talent Special Support Program Innovation and Entrepreneurship Team Project,and Sci-Tech Innovation Talent System Construction Program of Shaanxi University of Chinese Medicine(2023).
文摘Background:Panacis Quinquefolii Radix(PQR)is known for its ability to nourish“Qi”(it serves as the driving force for the functional activities of the body’s organs and meridians,promoting and regulating various physiological functions)and“Yin”(it represents the material foundation of the human body.It plays a role in nourishing,moistening,and cooling the body).Notoginseng Radix et Rhizoma(NRR)is recognized for its properties of resolving blood stasis(it refers to a pathological condition characterized by impaired or stagnant blood circulation within the body).Changes in the compatibility ratio of these herbs often lead to variations in their chemical composition and efficacy.However,the specific alterations in chemical composition and efficacy resulting from compatibility adjustments remain unclear.We aimed to compare the material basis and their effects of different compatibility ratios of PQR and NRR on“Qi”deficiency and blood stasis syndrome(QBS).Methods:This study employed UPLC-Q/TOF-MS to identify effective compounds in the compatibility of PQR and NRR and utilized UPLC-TQ-MS/MS to analyze the dissolution of 16 saponins in PQR and NRR at 9 different ratios.A rat model of QBS was established,and the efficacy of PQR and NRR in treating this syndrome was assessed using hemorheology and coagulation analyses.Results:The study results show that PQR and NRR exhibit significant efficacy,effectively reducing blood viscosity induced by platelet aggregation and lowering inflammatory markers such as IL-6,IL-10,TXB2 and ET associated with vascular injury.Moreover,this combination regulates ATP and ADP levels,enhances energy metabolism,and promotes overall health.A total of 104 compounds in the compatibility of PQR and NRR were identified.The ratios of 1:2 and 1:3 showed the highest total saponin content,but the ratio of 1:1 demonstrated a superior pharmacological effect for the treatment of QBS.Conclusion:In summary,the compatibility of PQR and NRR not only shows the complex interactions between traditional Chinese medicinal materials,but also provides a new idea and method for the treatment of QBS.
基金the Scientific and Technological Research Council of Türkiye(TÜBİTAK)Under the International Postdoctoral Research Fellowship Program(2219),No.1059B192400980the National Postdoctoral Research Fellowship Program(2218),No.122C158.
文摘Acute respiratory distress syndrome(ARDS)is a life-threatening condition that is characterized by high mortality rates and limited therapeutic options.Notably,Zhang et al demonstrated that CD146+mesenchymal stromal cells(MSCs)exhibited greater therapeutic efficacy than CD146-MSCs.These cells enhance epithelial repair through nuclear factor kappa B/cyclooxygenase-2-associated paracrine signaling and secretion of pro-angiogenic factors.We concur that MSCs hold significant promise for ARDS treatment;however,the heterogeneity of cell products is a translational barrier.Phenotype-aware strategies,such as CD146 enrichment,standardized potency assays,and extracellular vesicle profiling,are essential for improving the consistency of these studies.Further-more,advanced preclinical models,such as lung-on-a-chip systems,may provide more predictive insights into the therapeutic mechanisms.This article underscores the importance of CD146+MSCs in ARDS,emphasizes the need for precision in defining cell products,and discusses how integrating subset selection into translational pipelines could enhance the clinical impact of MSC-based therapies.
基金Supported by the Zhejiang Province Medicine and Health Science and Technology Program,No.2023KY980Hangzhou Municipal Health and Family Planning Commission,No.A20220133.
文摘BACKGROUND Phelan-McDermid syndrome(PMS)is a rare genetic disorder characterized by intellectual disability,delayed language development,autism spectrum disorders,motor tone abnormalities,and a high risk of psychiatric symptoms,including bipolar disorder.CASE SUMMARY This report presented an 18-year clinical history of a 36-year-old woman with PMS,marked by intellectual disabilities,social withdrawal,and stereotyped behaviors.Diagnosed with bipolar disorder at the age of 18 years old,she encountered significant treatment challenges,including severe adverse reactions to antipsychotic medications in 2022,which led to speech and functional regression.Through rehabilitation and comprehensive therapy,her condition gradually improved.In 2024,after further treatment,her symptoms stabilized,highlighting the complexities and successes of long-term management.CONCLUSION Effective management of PMS requires a thorough clinical history,genetic testing,and long-term supportive care.
基金the Special Project of State Key Laboratory of Dampness Syndrome of Chinese Medicine:Study on Criteria for Diagnosis of Dampness Syndrome of Idiopathic Membranous Nephropathy,Cohort Study on Pathogenesis and Material Basis of Dampness Syndrome of Idiopathic Membranous Nephropathy,Randomized Controlled Clinical Study of Sanqi Qushi Granule in Treatment of Membranous Nephropathy(No.SZ2021ZZ02,SZ2021ZZ09 and SZ2021ZZ36)the 2020 Guangdong Provincial Science and Technology Innovation Strategy Special Fund:Guangdong-Hong Kong-Macao Joint Lab(No.2020B1212030006)+2 种基金the Natural Science Foundation of Guangdong Province:Study on the Mechanism of Sanqi Qushi Prescription Delaying Podocellular Senescence in Membranous Nephropathy based on Cyclic Guanosine Monophosphate-Adenosine Monophosphate Synthase-Stimulator of Interferon Genes-Nuclear Factor Kappa-B Signaling Pathway(No.2022A1515011628)the Guangzhou Science and Technology Plan Project:to Explore the Mechanism of Treating Membranous Nephropathy from the Perspective of Regulating Amino Acid Metabolism Disorder(No.2023A03J0746)Special Funding for Scientific and Technological Research on Traditional Chinese Medicine,Guangdong Provincial Hospital of Chinese Medicine:a Multimodular Machine Learning Prediction Model based on Pathological Image-transcriptomics and Traditional Chinese Medicine Syndromes was Used to Investigate the Prognostic Correlation of Long non-coding RNA Molecules in Nephropathy and the Intervention Mechanism of Sanqi Qushi Formula,to Investigate the Pathogenesis and Microbiological Mechanism of Dampness Syndrome of Membranous Nephropathy based on the Microecological Changes of Tongue Coating(No.YN2023MB02,YN2023MB10)。
文摘OBJECTIVE:To reach consensus on the diagnostic criteria of syndrome of dampness obstruction in idiopathic membranous nephropathy(IMN)patients by literature research and expert investigation(interviews and a Delphi method).METHODS:Our study was consistent with T/CACM 1336-2020.We searched the monographs and references published in the past 40 years(1983-2022),and established the diagnostic criteria pool of waterdampness syndrome and dampness-turbidity syndrome in Traditional Chinese Medicine(TCM)based on literature by using frequency statistics and correlation analysis.Expert investigation(interview method and two rounds of Delphi method)was used to form the diagnostic criteria of water-dampness syndrome and dampnessturbidity syndrome of idiopathic membranous nephropathy.Clinical diagnostic test research was carried out,and compared with“Diagnostic Criteria for dampness syndrome”(T/CACM 1454-2023)to evaluate the authenticity,reliability and clinical application value of the standard.RESULTS:A total of 122 relevant guides,standards,monographs and documents were included through searching books and Chinese databases.Four experts were interviewed and two rounds of delphi method(75 experts nationwide)were carried out.The experts'opinions are relatively concentrated and the differences are small.Based on the weight of each index,the diagnostic criteria indexes of water-dampness syndrome and dampness-turbidity syndrome were selected.After discussion by the core group members,the diagnostic model of"necessary symptoms and optional symptoms"was established,and the final diagnostic criteria of waterdampness syndrome and dampness-turbidity syndrome were established.One hundred and ninety-one inpatients and outpatients of Guangdong Provincial Hospital of Chinese Medicine from January 2021 to February 2023 were included in Diagnostic test study.There was no statistical difference in gender,age and course of disease(P>0.05).The sensitivity and specificity of the trial standard were 90.34%and 73.33%respectively,while the sensitivity and specificity of T/CACM 1454-2023 were 99.43%and 6.67%,respectively.CONCLUSIONS:The consensus-based diagnostic criteria for IMN can be widely incorporated in TCM.A further clinical study will be conducted to analyze the diagnosis value and cut-off score of our IMN criteria.
文摘Objective:To evaluate the value of rehabilitation nursing based on mind mapping model combined with psychological intervention for patients with nephrotic syndrome(NS).Methods:A total of 60 patients with NS who visited our hospital from January 2024 to December 2024 were selected as samples and randomly divided into groups.The observation group received rehabilitation nursing based on the mind mapping model combined with psychological intervention,while the control group received routine intervention.The differences in emotional scores,self-care ability scores,compliance,and complications were compared between the two groups.Results:The anxiety(SAS)and depression(SDS)scores of the observation group were lower than those of the control group,while the self-care ability scale(ESCA)score was higher than that of the control group(P<0.05).The compliance rate of the observation group was higher than that of the control group(P<0.05).The complication rate of NS in the observation group was lower than that in the control group(P<0.05).Conclusion:Rehabilitation nursing based on the mind mapping model combined with psychological intervention can enhance self-care ability,reduce negative emotions,and reduce complications in NS nursing,which is efficient and feasible.
基金National Natural Science Foundation of China(U22A20377)Natural Science Foundation of Hunan Province of China(23C0168).
文摘Objective To explore the clinical characteristics and methods for syndrome differentiation prediction,as well as to construct a predictive model for Qi deficiency and blood stasis syndrome in patients with acute ischemic stroke(AIS).Methods This study employed a retrospective case-control design to analyze patients with AIS who received inpatient treatment at the Neurology Department of The First Hospital of Hunan University of Chinese Medicine from January 1,2013 to December 31,2022.AIS patients meeting the diagnostic criteria for Qi deficiency and blood stasis syndrome were stratified into case group,while those without Qi deficiency and blood stasis syndrome were stratified into control group.The demographic characteristics(age and gender),clinical parameters[time from onset to admission,National Institutes of Health Stroke Scale(NIHSS)score,and blood pressure],past medical history,traditional Chinese medicine(TCM)diagnostic characteristics(tongue and pulse),neurological symptoms and signs,imaging findings[magnetic resonance imaging-diffusion weighted imaging(MRI-DWI)],and biochemical indicators of the two groups were collected and compared.The indicators with statistical difference(P<0.05)in univariate analysis were included in multivariate logistic regression analysis to evaluate their predictive value for the diagnosis of Qi deficiency and blood stasis syndrome,and the predictive model was constructed by receiver operating characteristic(ROC)curve analysis.Results The study included 1035 AIS patients,with 404 cases in case group and 631 cases in control group.Compared with control group,patients in case group were significantly older,had extended onset-to-admission time,lower diastolic blood pressure,and lower NIHSS scores(P<0.05).Case group showed lower incidence of hypertension history(P<0.05).Regarding tongue and pulse characteristics,pale and dark tongue colors,white tongue coating,fine pulse,astringent pulse,and sinking pulse were more common in case group.Imaging examinations demonstrated higher proportions of centrum semiovale infarction,cerebral atrophy,and vertebral artery stenosis in case group(P<0.05).Among biochemical indicators,case group showed higher proportions of elevated fasting blood glucose and glycated hemoglobin(HbA1c),while lower proportions of elevated white blood cell count,reduced hemoglobin,and reduced high-density lipoprotein cholesterol(HDL-C)(P<0.05).Multivariate logistic regression analysis identified significant predictors for Qi deficiency and blood stasis syndrome including:fine pulse[odds ratio(OR)=4.38],astringent pulse(OR=3.67),superficial sensory abnormalities(OR=1.86),centrum semiovale infarction(OR=1.57),cerebral atrophy(OR=1.55),vertebral artery stenosis(OR=1.62),and elevated HbA1c(OR=3.52).The ROC curve analysis of the comprehensive prediction model yielded an area under the curve(AUC)of 0.878[95%confidence interval(CI)=0.855-0.900].Conclusion This study finds out that Qi deficiency and blood stasis syndrome represents one of the primary types of AIS.Fine pulse,astringent pulse,superficial sensory abnormalities,centrum semiovale infarction,cerebral atrophy,vertebral artery stenosis,elevated blood glucose,elevated HbA1c,pale and dark tongue colors,and white tongue coating are key objective diagnostic indicators for the syndrome differentiation of AIS with Qi deficiency and blood stasis syndrome.Based on these indicators,a syndrome differentiation prediction model has been developed,offering a more objective basis for clinical diagnosis,and help to rapidly identify this syndrome in clinical practice and reduce misdiagnosis and missed diagnosis.
文摘Background:It is found to have association of facial parameters with trisomy 21 fetuses(T 21).We have compared prenasal thickness(PNT),nasal bone length(NBL),and the PNT:NBL ratio of normal fetuses with fetuses with trisomy 21(T 21)between 16 and 25 weeks of gestation as a diagnostic tool for T 21.Methods:Facial profile images in the two dimensional(2D)gray scale were assessed to measure fetal NBL and PNT between 16 and 25 weeks of gestation.The PNT:NBL ratio of the fetuses was calculated.Nomograms were constructed from the data of morphologically normal fetuses at live birth.The PNT,NBL,and PNT:NBL ratio of fetuses with confirmed T 21(n=31)and morphologically normal fetuses at live birth(controls,n=3485)were compared.Results:Nomograms for PNT,NBL,and the PNT:NBL ratio were constructed.In T 21 fetuses,PNT(>95th percentile),NBL(<5th percentile),and the PNT:NBL ratio(>95th percentile)showed a sensitivity of 25%,29%,and 45%for PNT,NBL,and PNT:NBL,respectively,and specificity of 95%,96%,and 94%,for PNT,NBL,and PNT:NBL,respectively.All of these markers showed a negative predictive value of 99%.Conclusion:PNT,NBL,and the PNT:NBL ratio have high diagnostic value for fetuses with Down syndrome and can be incorporated easily in the current second trimester screening protocol for T 21.PNT,NBL,and the PNT:NBL ratio are more specific markers for Down syndrome than those used in previous studies.
文摘BACKGROUND Irritable bowel syndrome with predominant constipation(IBS-C)is a chronic gastrointestinal disorder that significantly impacts the quality of life of patients and currently lacks a definitive treatment.The use of electroacupuncture(EA)has demonstrated clinical efficacy in treating IBS-C and the gut-brain axis modulation,though its mechanisms remain unclear.AIM To investigate gut-brain-microbiota axis alteration and EA-associated microbial changes in IBS-C patients and treatment responders.METHODS This study consisted of two phases.The first phase was a cross-sectional study recruiting sixteen IBS-C patients and 16 healthy controls.Baseline fecal samples were collected to assess gut microbiota profiles between the two groups.The second phase was an observational longitudinal study in which the 16 IBS-C patients underwent nine EA sessions over one month.Gut microbiota profiles and clinical outcomes were assessed post-treatment course and at a one-month follow-up.RESULTS IBS-C patients exhibited significant gut dysbiosis,as indicated by altered beta diversity compared to healthy controls.EA significantly improved clinical outcomes and gut dysbiosis,with sustained therapeutic effects and normalization of neurotransmitter-related metabolic pathways observed at one-month follow-up.Notably,the gut bacterium Senegalimassilia was positively associated with symptom improvement,suggesting its potential as a predictive biomarker of EA responsiveness.CONCLUSION These findings support the integration of EA into IBS-C management and highlight Senegalimassilia as a candidate microbial biomarker for treatment response.
基金Supported by Traditional Chinese medicine foundation of Zhejiang province:Clinical Study on the Correlation Between Tourette Syndrome and Anatomical Changes in the Atlantoaxial Joint(2010ZB162)Medical Health Science and Technology Project of Zhejiang Provincial Health Commission:Study on Protein Fingerprinting of Tourette Syndrome(2011KYB142)+1 种基金Renowned Traditional Chinese Medicine Expert Inheritance Studio Construction Project of Zhejiang province(No.GZS2020049)Key Disciplines of Traditional Chinese Medicine Foundation of Zhejiang Province(2012-XK-D20)。
文摘OBJECTIVE:To explore the efficacy and safety of acupuncture combined with atlantoaxial joint bone-setting therapy for the treatment of Tourette syndrome.METHODS:We randomly divided 600 patients at a ratio of 1∶1∶1 into three groups:group A(acupuncture combined with atlantoaxial joint bone setting therapy group),group B(acupuncture group),and group C(tiapride group).After two months of treatment,the Yale global tic severity scale(YGTSS)score reduction,improvement in social function impairment,clinical efficacy,and long-term efficacy in the three groups were compared.RESULTS:After treatment,in the analysis of YGTSS score reduction,social function impairment improvement,the clinical control rate,and long-term efficacy,the results were all Group A>Group B>Group C,with a statistically significant difference(P<0.05).However,the total clinical efficacy of treatment in group A(94.9%)was not significantly different from that in group B(91.8%).Adverse reactions did not occur in groups A and B,and several adverse reactions occurred in 29%(n=58)of the group C patients.CONCLUSION:Compared with traditional drug therapy,acupuncture combined with atlantoaxial joint bone setting therapy has better clinical and long-term efficacy.This treatment strategy can improve the social function of children and prevent adverse reactions to drugs.
基金Sanming Project of Medicine in Shenzhen:the First Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine,Luo Songping National Famous Chinese Medicine Practitioner Female Reproductive Disorders Prevention and Treatment Team(SZZYSM202311010)Guangdong Provincial Administration of Traditional Chinese Medicine:Investigation of the Mechanism of Regulating Ren-Tong-Du Acupuncture on Ovarian Granulosa Cells in Polycystic Ovary Syndrome based on Activin A/Smads Signalling Pathway(No.20181229)+1 种基金Guangdong Provincial Administration of Traditional Chinese Medicine:Evaluation of the Efficacy of Menstrual Regulation and Pregnancy Promotion by Acupuncture in the Treatment of Premature Ovarian Insufficiency(No.20201294)Shenzhen Science and Innovation Commission:Investigating the Mechanism of Action of Acupuncture in Regulating the Gut Microbiome to Inhibit Apoptosis of Ovarian Granulosa Cells in Premature Ovarian Insufficiency Mice based on the Rictor/Torepamycin Target Protein C2 Pathway(No.JCYJ20210324130001004)。
文摘PURPOSE:To investigate the differences in gut microbial characteristics between two traditional Chinese syndromes of premature ovarian insufficiency(POI).METHODS:Forty women with POI were recruited from the Department of Traditional Chinese Medicine at Shenzhen Maternity and Child Healthcare Hospital between June and December 2020.Women with POI were divided into the kidney deficiency and blood stasis syndrome(SDBS)and Qi and blood deficiency syndrome(QBDS)groups.Gut microbial community profiles were analyzed by 16S rRNA gene sequencing using an Illumina Mi Seq system.A retrospective study comparing hormone levels and gut microbiota information was performed between the SDBS and QBDS groups.RESULTS:Compared with the QBDS group,the serum levels of estradiol(E2)and anti-Müllerian hormone(AMH)were significantly decreased in the SDBS group.The quantities of Adlercreutzia,Eggerthella,Klebsiella,and Paraprevotella significantly increased in the SDBS group,whereas Lactobacillus decreased significantly.Moreover,alterations in the microbiome in the SDBS and QBDS groups were closely related to the levels of E2 and AMH.The area under the receiver operating characteristic curve for the classification of the two syndromes by the gut microbiome was 0.71.CONCLUSIONS:There were significant differences in the dominant microbiota between the SDBS and QBDS groups,and the change in Proteobacteria in the QBDS group was more significant.The characteristics of gut microbiota help us differentiate between the SDBS and QBDS groups,which may provide a basis for the objectification of TCM syndrome types.
文摘BACKGROUND Restless legs syndrome(RLS)is characterized by an urge to move with an unpleasant sensation in the lower limbs.RLS typically affects the legs.However,it can also affect several other body regions,such as the arms,abdomen,face,neck,head,and genital area.There are only a few reports of the RLS variant affecting the head.AIM To assess the epidemiological,clinical,and other aspects of the RLS variant affecting the head.METHODS We conducted a retrospective study of 17 adult patients(>18 years)who met the RLS criteria and simultaneously experienced RLS-like symptoms in the head.RESULTS The median age at which symptoms appeared was 41.6 years.Males and females were equally affected(1.1:1).All 17 patients had uncomfortable sensations in the lower legs.Insomnia or disturbed sleep was the most common comorbidity(n=16,88.2%).However,headache was the most common presenting or primary symptom(n=10,70.5%).Dizziness or an abnormal sensation in the head was the second most common presenting symptom(5 patients,29.4%).Other presenting features were leg pain,backache,and generalized body pain.All patients responded favorably to dopaminergic medications.CONCLUSION If RLS-related unpleasant sensations and pain are felt in the head,they may be misinterpreted as headache,dizziness,or psychosomatic symptoms.RLS and headaches in a subset of patients may be two phenotypic manifestations of the same disorder.
文摘BACKGROUND Acute respiratory distress syndrome(ARDS)is a critical condition characterized by acute hypoxemia,non-cardiogenic pulmonary edema,and decreased lung compliance.The Berlin definition,updated in 2012,classifies ARDS severity based on the partial pressure of arterial oxygen/fractional inspired oxygen fraction ratio.Despite various treatment strategies,ARDS remains a significant public health concern with high mortality rates.AIM To evaluate the implications of driving pressure(DP)in ARDS management and its potential as a protective lung strategy.METHODS We conducted a systematic review using databases including EbscoHost,MEDLINE,CINAHL,PubMed,and Google Scholar.The search was limited to articles published between January 2015 and September 2024.Twenty-three peer-reviewed articles were selected based on inclusion criteria focusing on adult ARDS patients undergoing mechanical ventilation and DP strategies.The literature review was conducted and reported according to PRISMA 2020 guidelines.RESULTS DP,the difference between plateau pressure and positive end-expiratory pressure,is crucial in ARDS management.Studies indicate that lower DP levels are significantly associated with improved survival rates in ARDS patients.DP is a better predictor of mortality than tidal volume or positive end-expiratory pressure alone.Adjusting DP by optimizing lung compliance and minimizing overdistension and collapse can reduce ventilator-induced lung injury.CONCLUSION DP is a valuable parameter in ARDS management,offering a more precise measure of lung stress and strain than traditional metrics.Implementing DP as a threshold for safety can enhance protective ventilation strategies,po-tentially reducing mortality in ARDS patients.Further research is needed to refine DP measurement techniques and validate its clinical application in diverse patient populations.
基金Supported by The Keimyung University Dongsan Medical Center in 2006.
文摘BACKGROUND Food protein-induced enterocolitis syndrome(FPIES)is the most serious type of non-immunoglobulin E(IgE)-mediated food allergic reaction manifesting as sepsis-like symptom,which can lead to shock.Saccharomyces boulardii(S.boulardii),a probiotic prescribed frequently in clinical settings,has been reported to trigger FPIES in an infant with soy-triggered FPIES.In this report,we describe a new clinical FPIES in which S.boulardii was the sole triggering factor of acute FPIES adverse reaction in seven healthy infants.CASE SUMMARY Seven FPIES cases triggered by only S.boulardii were gathered from 2011 to the present.None of the patients had previously experienced any allergic reaction to cow’s milk,soy,or complementary food.The age of the patients was 4-10-months old,and the symptoms of FPIES developed after ingestion of S.boulardii,which is mostly prescribed for the treatment of gastroenteritis or antibiotic-associated diarrhea.All patients experienced severe repetitive vomiting 1-3 hours after S.boulardii ingestion.Extreme lethargy,marked pallor,and cyanosis were also observed.No IgE-mediated hypersensitivity developed in any patient.Diarrhea was followed by initial intense vomiting in approximately 5-10 hours after S.boulardii ingestion,and only one case showed bloody,purulent,and foul-smelling diarrhea.The patients stabilized quickly,mostly within 6 hours.Symptoms got all improved within 24 hours after discontinuation of S.boulardii.CONCLUSION S.boulardii can be the sole trigger of acute FPIES and be prescribed cautiously even in healthy children without FPIES.
文摘BACKGROUND Serrated polyposis syndrome(SPS)is a polyposis condition with neoplastic potential,but its psychological impact is not well understood.AIM To assess health anxiety prevalence in a regional Australian cohort of SPS patients and explore factors influencing it,including workforce impacts of regular surveillance.METHODS This cross-sectional study screened patients aged 18-65 undergoing colonoscopy in a regional gastroenterology practice between January 2015 and June 2022.Eligible SPS patients were invited to participate.Data included the Short Health Anxiety Inventory,employment status,and previous demographic and medical findings.RESULTS Health anxiety was found in 21.57%of SPS patients,with anxious patients being significantly more concerned about surveillance(OR=7.70).Patients lost an average of 11.04 work hours per colonoscopy.CONCLUSION Health anxiety in SPS patients aligns with rates in other gastroenterology populations.Identifying it may improve management,though further research is needed to better understand prevalence and care improvements.
