Introduction: Acute coronary syndromes (ACS) are a diagnostic and therapeutic emergency. Objective: Studying the feasibility, difficulties and results of coronary angioplasty in acute coronary syndromes at the Luxembo...Introduction: Acute coronary syndromes (ACS) are a diagnostic and therapeutic emergency. Objective: Studying the feasibility, difficulties and results of coronary angioplasty in acute coronary syndromes at the Luxembourg Mother-Child University Hospital in Bamako. Patients and Methods: Cross-sectional, descriptive study with prospective recruitment over 18 months from September 2020 to February 2022. All patients aged at least 18 years old admitted for SCA and having undergone PCI during the study period were included. Result: We collected 249 patients for SCA, of whom 160 underwent angioplasty, either an angioplasty/SCA ratio of 0.64. The average age of the patients was 59.54 ± 11.62 with extremes of 32 and 92 years. The age group of 45 to 65 years was the most representative. The predominance was male, sex ratio of 2.4. The main cardiovascular risk factors were high blood pressure (58.23%) and diabetes (45.78%). Persistent ST-segment elevation on the electrocardiogram was present in 71.48%. The treatment time was more than 12 hours after the first medical contact in 95.5%. The approach was radial in 96.5% of cases. Coronarography was pathological in 91.16% of our patients. The lesions were tri-truncular in 34.13% with the anterior inter ventricular as culprit artery in 72% of cases. The majority of patients (64%) had undergone angioplasty with implantation of an active stent. Angioplasty was performed successfully in 98% and per procedural mortality was 1.87%. Only 6.45% of ACS with ST elevation benefited from primary angioplasty. Conclusion: Percutaneous coronary intervention is performed routinely in our center with satisfactory results. Difficulties exist, related to the diagnostic delay of ACS and the high cost of angioplasty.展开更多
Background: Myocardial ischemia in addition to other several cardiac syndromes represent a pathological proinflammatory state alongside a complex cellular microenvironment that can be modified by using cannabinoids. C...Background: Myocardial ischemia in addition to other several cardiac syndromes represent a pathological proinflammatory state alongside a complex cellular microenvironment that can be modified by using cannabinoids. Cannabidiol (CBD), a non-psychoactive compound of cannabis has been recently proposed as an immudomodulatory and cardioprotective drug. Objectives: In this systematic review we sought to clarify and summarize the clinical and preclinical evidence of potential benefit of the use of CBD in coronary syndromes. Methods: We conducted a systematic search and review according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and Review of Animal Data from Experimental Studies (CAMARADES) guidelines, in the electronic database from PubMed, Web of Science and Scopus up to April 2022 using predefined search terms. Pre-specified exclusion and inclusion criteria were considered, finally 11 articles were chosen to be included for this peer review. Results: Currently there are no good-quality clinical trials with the use of CBD in acute or chronic coronary syndromes. A total of 11 preclinical studies where prescreened and 5 demonstrated reproducible positive cardiovascular outcomes on in-vivo models treated with CBD. Mechanisms of CBD cardioprotection observed: 1) reduction in oxidative stress and inflammation, 2) activation of adenosine receptors and 3) increased expression of angiotensin type 2-receptor. Experimental models included ischemia/reperfusion injury, myocardial infarction, arrhythmias, and metabolic syndrome-like conditions. Conclusion: No clinical recommendation can be issued with the current evidence, on the use of CBD in acute and chronic coronary syndromes. Based on preclinical evidence, we considered there is enough evidence to propose the development of well-designed clinical trials that include CBD in the management of coronary syndromes.展开更多
Paraneoplastic neurological syndrome refers to certain malignant tumors that have affected the distant nervous system and caused corresponding dysfunction in the absence of tumor metastasis.Patients with this syndrome...Paraneoplastic neurological syndrome refers to certain malignant tumors that have affected the distant nervous system and caused corresponding dysfunction in the absence of tumor metastasis.Patients with this syndrome produce multiple antibodies,each targeting a different antigen and causing different symptoms and signs.The CV2/collapsin response mediator protein 5(CRMP5)antibody is a major antibody of this type.It damages the nervous system,which often manifests as limbic encephalitis,chorea,ocular manifestation,cerebellar ataxia,myelopathy,and peripheral neuropathy.Detecting CV2/CRMP5 antibody is crucial for the clinical diagnosis of paraneoplastic neurological syndrome,and anti-tumor and immunological therapies can help to alleviate symptoms and improve prognosis.However,because of the low incidence of this disease,few repo rts and no reviews have been published about it so far.This article intends to review the research on CV2/CRMP5antibody-associated paraneoplastic neurological syndrome and summarize its clinical features to help clinicians comprehensively understand the disease.Additionally,this review discusses the curre nt challenges that this disease poses,and the application prospects of new detection and diagnostic techniques in the field of paraneoplastic neurological syndrom e,including CV2/CRMP5-associated paraneoplastic neurological syndrome,in recent years.展开更多
The present article tests the following general assumption:plant taxa with different specializations towards mycorrhizal interactions should have different root syndromes.Roots of 61 species common in boreal zone were...The present article tests the following general assumption:plant taxa with different specializations towards mycorrhizal interactions should have different root syndromes.Roots of 61 species common in boreal zone were studied:16 species of Poaceae,24 species of Cyperaceae,14 species of Orchidaceae,and 7 species of Iridaceae.Using a fixed material of 5 individuals of each species,the following was determined:number of orders of branching roots;transverse dimensions of root,stele and cortex;number of primary xylem vessels and exodermis layers;length of root hairs;abundance of mycorrhiza.Species of each family had well-defined syndromes.Roots of Orchidaceae and Iridaceae were thick with a large stele and developed exodermis.Orchidaceae had no branching roots and had long root hairs.In Iridaceae,roots were branched,and root hairs were short.Roots of Poaceae and Cyperaceae were thin with a relatively thin stele.Root hairs were short in Poaceae and long in Cyperaceae.Our finding that root syndromes of four families of monocots differed is a new and unexpected discovery.The high specificity of root syndromes in Cyperaceae,Iridaceae,Poaceae,and Orchidaceae indicates that species of these families use different strategies to obtain water and soil nutrients.展开更多
Background:Traditional Chinese medicine(TCM)syndrome is the basic unit of TCM treatment,which help clinicians assess the disease progression and treatment preoperative of tumor patients.However,the prognostic signific...Background:Traditional Chinese medicine(TCM)syndrome is the basic unit of TCM treatment,which help clinicians assess the disease progression and treatment preoperative of tumor patients.However,the prognostic significance of TCM syndrome is still unclear.This study aims to detect the differences in overall survival between different TCM syndrome and further develop a new nomogram with TCM syndrome for predicting overall survival in colorectal cancer.Methods:A total of 324 patients with colorectal cancer were enrolled and categorized into three groups based on TCM syndrome:deficiency,excess,and deficiency-excess.The prognosis of colorectal cancer patients with different TCM syndromes was evaluated using Kaplan-Meier analysis and Cox regression analysis.Results:The proportion of advanced stage and lymph metastasis in the patients with deficiency syndrome was higher,and the overall survival was shorter than other syndromes.Meanwhile,the TCM syndrome(P<0.001),tumor invasion depth(P<0.001),lymph metastasis(P=0.018),organic metastasis(P=0.005)and tumor node metastasis(TNM)stage(P=0.029)were the independent prognostic factor.Then,a new nomogram with TCM syndrome was established and assessed.324 colorectal cancer patients were randomly divided into training(n=215)and validation cohorts(n=109).A nomogram incorporating preoperative TCM syndrome,gender,age,T,N,and M status was developed,which had good discrimination and calibration.Conclusion:Taken together,our results indicated that TCM syndrome could assess the prognosis of colorectal cancer.The nomogram incorporating TCM syndromes and tumor information is helpful for risk stratification and prognostic predictions in colorectal cancer preoperatively.展开更多
Hereditary cancer syndromes(HCSs)are arguably the most frequent category of Mendelian genetic diseases,as at least 2%of presumably healthy subjects carry highly-penetrant tumor-predisposing pathogenic variants(PVs).He...Hereditary cancer syndromes(HCSs)are arguably the most frequent category of Mendelian genetic diseases,as at least 2%of presumably healthy subjects carry highly-penetrant tumor-predisposing pathogenic variants(PVs).Hereditary breast-ovarian cancer and Lynch syndrome make the highest contribution to cancer morbidity;in addition,there are several dozen less frequent types of familial tumors.The development of the majority albeit not all hereditary malignancies involves two-hit mechanism,i.e.the somatic inactivation of the remaining copy of the affected gene.Earlier studies on cancer families suggested nearly fatal penetrance for the majority of HCS genes;however,population-based investigations and especially large-scale next-generation sequencing data sets demonstrate that the presence of some highly-penetrant PVs is often compatible with healthy status.Hereditary cancer research initially focused mainly on cancer detection and prevention.Recent studies identified multiple HCS-specific drug vulnerabilities,which translated into the development of highly efficient therapeutic options.展开更多
Objectives The objective of this study was to explore the correlation between the distribution of traditional Chinese medicine(TCM)syndromes and molecular types of breast cancer in the perichemotherapy period.Methods ...Objectives The objective of this study was to explore the correlation between the distribution of traditional Chinese medicine(TCM)syndromes and molecular types of breast cancer in the perichemotherapy period.Methods A total of 325 cases with perichemotherapy breast cancer was classified according to syndrome differentiation in TCM,and R×C table x2 test was used to examine and analyze the relationship between TCM syndromes and molecular types of breast cancer in the perichemotherapy period.Results(1)In the early stage of chemotherapy,there was no significant difference in the distribution of different TCM syndromes among molecular types,mainly liver depression syndrome and liver depression and phlegm coagulation syndrome(p>0.05).(2)In the middle stage of chemotherapy,there were significant differences in the distribution of spleen deficiency and phlegm-dampness syndrome among HER-2 positive(HR positive),HER-2 positive(HR negative),and Luminal Atype,Luminal B type(HER-2 negative),and triple-negative type(p<0.01).(3)After chemotherapy,there were significant differences in the distribution of spleen and kidney yang deficiency syndrome and marrow sea insufficiency syndrome among HER-2 positive(HR negative),triple-negative type,and HER-2 positive(HR positive),Luminal A type,Luminal B type(HER-2 negative),and triple-negative type(p<0.01).Conclusion(1)In the middle stage of chemotherapy,HER-2 positive(HR positive)and HER-2 positive(HR negative)are more likely to show spleen deficiency and phlegmdampness syndrome than other molecular types.(2)In the late stage of chemotherapy,the HER-2 positive(HR negative)and triple-negative type is more likely to show spleenkidney yang deficiency syndrome than other molecular types,and the triple-negative type is more likely to show marrow sea insufficiency syndrome than other molecular types.展开更多
In this editorial we present an overview and insights of the management of hereditary polyposis syndromes.The primary focus was on familial adenomatous polyposis,juvenile polyposis syndrome and Peutz-Jegher syndrome.G...In this editorial we present an overview and insights of the management of hereditary polyposis syndromes.The primary focus was on familial adenomatous polyposis,juvenile polyposis syndrome and Peutz-Jegher syndrome.Genetic testing has become increasingly available and is easier than ever to integrate into clinical practice.Furthermore,several genes have been added to the expanding list of genes associated with hereditary polyposis syndromes,allowing for precise diagnostics and tailored follow-up.Endoscopic evaluation of patients with hereditary polyposis syndromes is paramount in the surveillance strategies.Current endoscopic procedures include both diagnostic procedures and surveillance as well as therapeutic interventions.Recommendations for endoscopic procedures in the upper and lower gastrointestinal canal were described.Surgery is still a key component in the management of patients with hereditary polyposis syndromes.The increased cancer risk in these patients often render prophylactic procedures or intended curative procedures in the case of cancer development.Surgical interventions in the upper and lower gastrointestinal canal were described with relevant considerations.Development of chemopreventive medications is ongoing.Few drugs have been investigated,including nonsteroidal anti-inflammatory drugs.It has been demonstrated that cyclooxygenase-2 inhibitors may lower the number of polyps.Other medications are currently under investigation,but none have,to date,consistently been able to prevent development of disease.展开更多
Background: Ischaemic heart disease is the cause of 7.4 million deaths per year. Their prevention is based on the management of cardiovascular risk factors, but also on the early detection and management of chronic co...Background: Ischaemic heart disease is the cause of 7.4 million deaths per year. Their prevention is based on the management of cardiovascular risk factors, but also on the early detection and management of chronic coronary syndromes (CCS), for which few data are available in Africa. The main objective of our study was to determine the factors related to significative coronary artery disease in patients undergoing coronarography for suspected chronic coronary syndrome (CCS). Methodology: We conducted a retrospective descriptive and analytical study over 2 years (from January, 1<sup>st</sup>, 2018 to December 31<sup>st</sup>, 2019) in the Cardiology Department of the University Hospital Aristide Le DANTEC in Dakar. All patients admitted for coronary angiography for suspected chronic coronary syndrome were included. Results: One hundred and fifty-two patients were included with a mean age of 60.79 ± 9.73 years, the most represented age group was 60 - 69 years. Advanced age was the most frequent risk factor (77.63%) followed by sedentary lifestyle (56.58%) and hypertension (41.45%). Diabetes was present in 17.1% of cases. A history of angioplasty was found in 1.97% of patients. Typical pain was found in 71.05% of cases, atypical pain in 19.74% and exertional dyspnoea in 2.63%. The pre-test probability was intermediate in 67.1% of cases, low in 25% and high in 7.9%. Significative coronary lesion was found in 52.63% of the patients, while coronary angiography was normal in the remaining cases. Tritroncular status was observed in 37.50%, it was bitroncular in 26.25% and monotroncular in 36.25% of cases. Factors associated with significative coronary artery disease were age (p = 0.0001), diabetes (p = 0.006), previous angioplasty (p = 0.023), previous myocardial infarction (p = 0.018), typical angina (p = 0.001), intermediate pretest probability (p = 0.001). Low pretest probability was significantly correlated with the absence of a coronary lesion with a p = 0.001. Conclusion: Our study shows that screening for chronic coronary disease should be done especially in diabetics, elderly subjects and those with previous angioplasty taking into account symptoms and pretest probability to avoid unnecessary invasive procedures.展开更多
BACKGROUND During the second wave of the coronavirus disease 2019(COVID-19)pandemic,a subset of critically ill patients developed delayed respiratory deterioration in the absence of new infection,fluid overload or ext...BACKGROUND During the second wave of the coronavirus disease 2019(COVID-19)pandemic,a subset of critically ill patients developed delayed respiratory deterioration in the absence of new infection,fluid overload or extra-pulmonary organ dysfunction.AIM To describe the clinical and laboratory characteristics,outcomes,and management of these patients,and to contrast this entity with other post COVID-19 immune dysregulation related inflammatory disorders.METHODS This was a retrospective observational study of adult patients admitted to the medical intensive care unit of a 2200-bed university affiliated teaching hospital,between May and August 2021,who fulfilled clearly defined inclusion and exclusion criteria.Outcome was assessed by a change in PaO_(2)/FiO_(2) ratio and levels of inflammatory markers before and after immunomodulation,duration of mechanical ventilation after starting treatment,and survival to discharge.RESULTS Five patients developed delayed respiratory deterioration in the absence of new infection,fluid overload or extrapulmonary organ dysfunction at a median interquartile range(IQR)duration of 32(23-35)d after the onset of symptoms.These patients had elevated inflammatory markers,required mechanical ventilation for 13(IQR 10-23)d,and responded to glucocorticoids and/or intravenous immunoglobulin.One patient died(20%).CONCLUSION This delayed respiratory worsening with elevated inflammatory markers and clinical response to immunomodulation appears to contrast the well described Multisystem Inflammatory Syndrome–Adults by the paucity of extrapulmonary organ involvement.The diagnosis can be considered in patients presenting with delayed respiratory worsening,that is not attributable to cardiac dysfunction,fluid overload or ongoing infections,and associated with an increase in systemic inflammatory markers like C-reactive protein,inteleukin-6 and ferritin.A good response to immunomodulation can be expected.This delayed inflammatory pulmonary syndrome may represent a distinct clinical entity in the spectrum of inflammatory syndromes in COVID-19 infection.展开更多
The myelodysplastic/myeloproliferative neoplasms(MDS/MPNs) are a unique group of hematologic malignancies characterized by concomitant myelodysplastic and myeloproliferative features. According to the 2008 WHO classif...The myelodysplastic/myeloproliferative neoplasms(MDS/MPNs) are a unique group of hematologic malignancies characterized by concomitant myelodysplastic and myeloproliferative features. According to the 2008 WHO classification, the category includes atypical chronic myeloid leukemia(a CML), chronic myelomonocytic leukemia(CMML), juvenile myelomonocytic leukemia(JMML), MDS/MPN-unclassifiable(MDS/MPN-U), and the provisional entity refractory anemia with ring sideroblasts and thrombocytosis(RARS-T). Although diagnosis currently remains based on clinicopathologic features, the incorporation of nextgeneration platforms has allowed for the recent molecular characterization of these diseases which has revealed unique and complex mutational profiles that support their distinct biology and is anticipated to soon play an integral role in diagnosis,prognostication, and treatment. Future goals of research should include the development of disease-modifying therapies, and further genetic understanding of the category will likely form the foundation of these efforts.展开更多
Background Elderly patients with non-ST-segment elevation acute coronary syndromes(NSTE-ACS)may present delirium but its clinical relevance is unknown.This study aimed at detennining the clinical associated factors,an...Background Elderly patients with non-ST-segment elevation acute coronary syndromes(NSTE-ACS)may present delirium but its clinical relevance is unknown.This study aimed at detennining the clinical associated factors,and prognostic implications of delirium in old-aged patients admitted for NSTE-ACS.Methods LONGEVO-SCA is a prospective multicenter registry including unselected patients with NSTE-ACS aged>80 years.Clinical variables and a complete geriatric evaluation were assessed during hospitalization.The association between delirium and 6-month mortality was assessed by a Cox regression model weighted for a propensity score including the potential confounding variables.We also analysed its association with 6-month bleeding and cognitive or functional decline.Results Among 527 patients included,thirty-seven(7%)patients presented delirium during the hospitalization.Delirium was more frequent in patients with dementia or depression and in those from nursing homes(27.0%vs.3.1%,24.3%vs.11.6%,and 11.1%V5.2.2%,respectively;all P<0.05).Delirium was significantly associated with in-hospital infections(27.0%vs.5.3%,P<0.001)and usage of diuretics(70.3%vs.49.8%,P=0.02).Patients with delirium had longer hospitalizations[median 8.5(5.5-14)vs.6.0(4.0-10)days,P=0.02]and higher incidence of 6-month bleeding and mortality(32.3%vs.10.0%and 24.3%vs.10.8%,respectively;both P<0.05)but similar cognitive or functional decline.Delirium was independently associated with 6-month mortality(HR=1.47,95%CI:1.02-2.13,P=0.04)and 6-month bleeding events(OR=2.87;95%CI:1.98-4」6,P<0.01).Conclusions In-hospital delirium in elderly patients with NSTE-ACS is associated with some preventable risk factors and it is an independent predictor of 6-month mortality.展开更多
AIM:To evaluate the risk factors for ampullary adenoma and ampullary cancer.METHODS:This case-control study included ampullary tumor patients referred to Peking Union Medical College Hospital.Controls were randomly se...AIM:To evaluate the risk factors for ampullary adenoma and ampullary cancer.METHODS:This case-control study included ampullary tumor patients referred to Peking Union Medical College Hospital.Controls were randomly selected from an existing database of healthy individuals at the Health Screening Center of the same hospital.Data on metabolic syndromes,medical conditions,and family history were collected by retrospective review of the patients’records and health examination reports,or by interview.RESULTS:A total of 181 patients and 905 age-and sex-matched controls were enrolled.We found that a history of diabetes,cholecystolithiasis,low-density lipoprotein,and apolipoprotein A were significantly related to ampullary adenomas.Diabetes,cholecystolithiasis,chronic pancreatitis,total cholesterol,high-density lipoprotein,and apolipoprotein A were also significantly related to ampullary cancer.CONCLUSION:Some metabolic syndrome components and medical conditions are potential risk factors for the development of ampullary tumors.Cholelithiasis,diabetes,and apolipoprotein A may contribute to the malignant transformation of benign ampullary adenomas into ampullary cancer.展开更多
BACKGROUND:The complications of systemic inflammatory response syndrome(SIRS)include acute lung injury,acute kidney injury,shock,and multiple organ dysfunction syndrome(MODS).In recent years,how to clear inflammatory ...BACKGROUND:The complications of systemic inflammatory response syndrome(SIRS)include acute lung injury,acute kidney injury,shock,and multiple organ dysfunction syndrome(MODS).In recent years,how to clear inflammatory mediators has become a hot topic in critical care medicine.Researchers hypothesize that continuous blood purification(CBP) can effectively eliminate a variety of inflammatory mediators which participate in the occurrence of MODS and adjust the immune imbalance.This study aimed to observe the effects of CBP in MODS patients.METHODS:In this retrospective clinical study,a total of 38 MODS patients,18 males and 20 females,were enrolled.After conventional therapy,all the patients received CBP.Biochemistry,blood gas analysis,oxygenation index,mean arterial blood pressure(MAP),acute physiology and chronic health evaluation(APACHE) II scores were monitored.RESULTS:After CBP,the vital signs of patients were rapidly stable,and electrolyte disorders and acid-base imbalance were corrected.Renal function,blood gas,oxygenation index were all improved.MAP was increased,and APACHE II score was significantly decreased.All patients had good tolerance,stable hemodynamics,and no obvious adverse reaction on CBP compared with pre-CBP.CONCLUSION:CBP can effectively clean toxins,correct electrolyte acid-base balance,and improve systemic inflammatory response syndrome and the organ function of MODS patients.展开更多
Myelodysplastic syndromes have increased in frequency and incidence in the American population, but patient prognosis has not significantly improved over the last decade. Such improvements could be realized if biomark...Myelodysplastic syndromes have increased in frequency and incidence in the American population, but patient prognosis has not significantly improved over the last decade. Such improvements could be realized if biomarkers for accurate diagnosis and prognostic stratification were successfully identified. In this study, we propose a method that associates two state-of-the-art array technologies-single nucleotide polymorphism (SNP) array and gene expression array-with gene motifs considered transcription factor -binding sites (TFBS). We are particularly interested in SNP-containing motifs introduced by genetic variation and mutation as TFBS. The potential regulation of SNP-containing motifs affects only when certain mutations occur. These motifs can be identified from a group of co-expressed genes with copy number variation. Then, we used a sliding window to identify motif candidates near SNPs on gene sequences. The candidates were filtered by coarse thresholding and fine statistical testing. Using the regression-based LARS-EN algorithm and a level-wise sequence combination procedure, we identified 28 SNP-containing motifs as candidate TFBS. We confirmed 21 of the 28 motifs with ChIP-chip fragments in the TRANSFAC database. Another six motifs were validated by TRANSFAC via searching binding fragments on coregulated genes. The identified motifs and their location genes can be considered potential biomarkers for myelodysplastic syndromes. Thus, our proposed method, a novel strategy for associating two data categories, is capable of integrating information from different sources to identify reliable candidate regulatory SNP-containing motifs introduced by genetic variation and mutation.展开更多
The progressive ageing of the population and the high incidence of acute coronary syndromes(ACS)in the elderly is leading to an important increase in the number of elderly patients admitted for ACS.[1]Nevertheless,the...The progressive ageing of the population and the high incidence of acute coronary syndromes(ACS)in the elderly is leading to an important increase in the number of elderly patients admitted for ACS.[1]Nevertheless,the information about the optimal clinical management in this age group is scarce due to the exclusion of older patients from clinical trials.[2]Higher comorbidity and frailty are common in this clinical setting and they are associated with higher rates of complications and consumption of healthcare resources.[3]These are the main reasons for launching this special issue about management of ACS in the elderly,in which several experts in the field address some of the most important questions about how to deal with ACS in patients at older ages.展开更多
Because of the rarity of familial gastrointestinal cancerpredisposing syndromes,their exploration in literature is not extensive.In this review,an update of the clinicopathological and molecular criteria of gastrointe...Because of the rarity of familial gastrointestinal cancerpredisposing syndromes,their exploration in literature is not extensive.In this review,an update of the clinicopathological and molecular criteria of gastrointestinal familial polyposis syndromes with potential malignant transformation is performed.In addition,a guide for screening and surveillance was synthesized and a distribution of gene mutations according to the specific syndromes and geographic distribution was included.The following inherited polyposes syndromes were analyzed: familial adenomatous polyposis,the hamartomatous familial polyposes(Juvenile polyposis,Peutz-Jeghers syndrome,Cowden syndrome,BannayanRiley-Ruvalcaba syndrome,hereditary mixed polyposis syndrome,Gorlin syndrome,Birt-Hogg-Dube syndrome,neurofibromatosis type Ⅰand multiple endocrine neoplasia syndrome 2B),Li-Fraumeni syndrome,and MUTYHassociated adenomatous polyposis.For proper medical care,subspecialization of gastroenterologists,pathologists,and genticists in the field of familial diseases should be introduced in the medical curriculum.展开更多
Atrial fibrillation(AF) is the most common type of sustained arrhythmia,which is now on course to reach epidemic proportions in the elderly population. AF is a commonly encountered comorbidity in patients with cardiac...Atrial fibrillation(AF) is the most common type of sustained arrhythmia,which is now on course to reach epidemic proportions in the elderly population. AF is a commonly encountered comorbidity in patients with cardiac and major non-cardiac diseases. Morbidity and mortality associated with AF makes it a major healthcare burden. The objective of our article is to determine the prognostic impact of AF on acute coronary syndromes,heart failure and chronic kidney disease. Multiple studies have been conducted to determine if AF has an independent role in the overall mortality of such patients. Our review suggests that AF has an independent adverse prognostic impact on the clinical outcomes of acute coronary syndromes,heart failure and chronic kidney disease.展开更多
Background Little information exists about the role of anemia in patients with acute coronary syndromes(ACS)admitted to Intensive Cardiac Care Units(ICCU).The aim of this study was to assess the prevalence of anemia a...Background Little information exists about the role of anemia in patients with acute coronary syndromes(ACS)admitted to Intensive Cardiac Care Units(ICCU).The aim of this study was to assess the prevalence of anemia and its impact on management and outcomes in this clinical setting.Methods All consecutive patients admitted to eight different ICCUs with diagnosis of non-ST segment elevation ACS(NSTEACS)were prospectively included.Anemia was defined as hemoglobin<130 g/L in men and<120 g/L in women.The association between anemia and mortality or readmission at six months was assessed by the Cox regression method.Results A total of 629 patients were included.Mean age was 66.6 years.A total of 197 patients(31.3%)had anemia.Coronary angiography was performed in most patients(96.2%).Patients with anemia were significantly older,with a higher prevalence of comorbidities,poorer left ventricle ejection fraction and higher GRACE score values.Patients with anemia underwent less often coronary angiography,but underwent more often intraaortic counterpulsation,non-invasive mechanical ventilation and renal replacement therapies.Both ICCU and hospital stay were significantly longer in patients with anemia.Both the incidence of mortality(HR=3.36,95%CI:1.43–7.85,P=0.001)and the incidence of mortality/readmission were significantly higher in patients with anemia(HR=2.80,95%CI:2.03–3.86,P=0.001).After adjusting for confounders,the association between anemia and mortality/readmission remained significant(P=0.031).Conclusions Almost one of three NSTEACS patients admitted to ICCU had anemia.Most patients underwent coronary angiography.Anemia was independently associated to poorer outcomes at 6 months.展开更多
Colorectal cancer(CRC) is a major cause of morbidity and mortality around the world, and approximately 5% of them develop in a context of inherited mutations leading to some form of familial colon cancer syndromes. Re...Colorectal cancer(CRC) is a major cause of morbidity and mortality around the world, and approximately 5% of them develop in a context of inherited mutations leading to some form of familial colon cancer syndromes. Recognition and characterization of these patients have contributed to elucidate the genetic basis of CRC. Polyposis Syndromes may be categorized by the predominant histological structure found within the polyps. The aim of the present paper is to review the most important clinical features of the Hamartomatous Polyposis Syndromes, a rare group of genetic disorders formed by the peutz-Jeghers syndrome, juvenil polyposis syndrome and PTEN Hamartoma Tumor Syndrome(Bannayan-Riley-Ruvalacaba and Cowden Syndromes). A literature search was performed in order to retrieve the most recent and important papers(articles, reviews, clinical cases and clinical guidelines) regarding the studied subject. We searched for terms such as "hamartomatous polyposis syndromes", "Peutz-Jeghers syndrome", "juvenile polyposis syndrome", "juvenile polyp", and "PTEN hamartoma tumour syndrome"(Cowden syndrome, Bananyan-Riley-Ruvalcaba). The present article reports the wide spectrum of disease severity and extraintestinal manifestations, with a special focus on their potential to develop colorectal and other neoplasia. In the literature, the reported colorectal cancer risk for Juvenile Polyposis, Peutz-Jeghers and PTEN Hamartoma Tumor Syndromes are 39%-68%, 39%-57% and 18%, respectively. A review regarding cancer surveillance recommendations is also presented.展开更多
文摘Introduction: Acute coronary syndromes (ACS) are a diagnostic and therapeutic emergency. Objective: Studying the feasibility, difficulties and results of coronary angioplasty in acute coronary syndromes at the Luxembourg Mother-Child University Hospital in Bamako. Patients and Methods: Cross-sectional, descriptive study with prospective recruitment over 18 months from September 2020 to February 2022. All patients aged at least 18 years old admitted for SCA and having undergone PCI during the study period were included. Result: We collected 249 patients for SCA, of whom 160 underwent angioplasty, either an angioplasty/SCA ratio of 0.64. The average age of the patients was 59.54 ± 11.62 with extremes of 32 and 92 years. The age group of 45 to 65 years was the most representative. The predominance was male, sex ratio of 2.4. The main cardiovascular risk factors were high blood pressure (58.23%) and diabetes (45.78%). Persistent ST-segment elevation on the electrocardiogram was present in 71.48%. The treatment time was more than 12 hours after the first medical contact in 95.5%. The approach was radial in 96.5% of cases. Coronarography was pathological in 91.16% of our patients. The lesions were tri-truncular in 34.13% with the anterior inter ventricular as culprit artery in 72% of cases. The majority of patients (64%) had undergone angioplasty with implantation of an active stent. Angioplasty was performed successfully in 98% and per procedural mortality was 1.87%. Only 6.45% of ACS with ST elevation benefited from primary angioplasty. Conclusion: Percutaneous coronary intervention is performed routinely in our center with satisfactory results. Difficulties exist, related to the diagnostic delay of ACS and the high cost of angioplasty.
文摘Background: Myocardial ischemia in addition to other several cardiac syndromes represent a pathological proinflammatory state alongside a complex cellular microenvironment that can be modified by using cannabinoids. Cannabidiol (CBD), a non-psychoactive compound of cannabis has been recently proposed as an immudomodulatory and cardioprotective drug. Objectives: In this systematic review we sought to clarify and summarize the clinical and preclinical evidence of potential benefit of the use of CBD in coronary syndromes. Methods: We conducted a systematic search and review according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and Review of Animal Data from Experimental Studies (CAMARADES) guidelines, in the electronic database from PubMed, Web of Science and Scopus up to April 2022 using predefined search terms. Pre-specified exclusion and inclusion criteria were considered, finally 11 articles were chosen to be included for this peer review. Results: Currently there are no good-quality clinical trials with the use of CBD in acute or chronic coronary syndromes. A total of 11 preclinical studies where prescreened and 5 demonstrated reproducible positive cardiovascular outcomes on in-vivo models treated with CBD. Mechanisms of CBD cardioprotection observed: 1) reduction in oxidative stress and inflammation, 2) activation of adenosine receptors and 3) increased expression of angiotensin type 2-receptor. Experimental models included ischemia/reperfusion injury, myocardial infarction, arrhythmias, and metabolic syndrome-like conditions. Conclusion: No clinical recommendation can be issued with the current evidence, on the use of CBD in acute and chronic coronary syndromes. Based on preclinical evidence, we considered there is enough evidence to propose the development of well-designed clinical trials that include CBD in the management of coronary syndromes.
基金National Natural Science Foundation of China,No.U1604181Henan Province Key R&D and Promotion Special Project (Science and Technology Tackle),No.212102310834+1 种基金Henan Medical Education Research Project,No.Wjlx2020531the Joint project of Medical Science and Technology Research Program of Henan Province,No.LHGJ20190078 (all to JW)。
文摘Paraneoplastic neurological syndrome refers to certain malignant tumors that have affected the distant nervous system and caused corresponding dysfunction in the absence of tumor metastasis.Patients with this syndrome produce multiple antibodies,each targeting a different antigen and causing different symptoms and signs.The CV2/collapsin response mediator protein 5(CRMP5)antibody is a major antibody of this type.It damages the nervous system,which often manifests as limbic encephalitis,chorea,ocular manifestation,cerebellar ataxia,myelopathy,and peripheral neuropathy.Detecting CV2/CRMP5 antibody is crucial for the clinical diagnosis of paraneoplastic neurological syndrome,and anti-tumor and immunological therapies can help to alleviate symptoms and improve prognosis.However,because of the low incidence of this disease,few repo rts and no reviews have been published about it so far.This article intends to review the research on CV2/CRMP5antibody-associated paraneoplastic neurological syndrome and summarize its clinical features to help clinicians comprehensively understand the disease.Additionally,this review discusses the curre nt challenges that this disease poses,and the application prospects of new detection and diagnostic techniques in the field of paraneoplastic neurological syndrom e,including CV2/CRMP5-associated paraneoplastic neurological syndrome,in recent years.
基金a part of the research project of the Institute of Plant and Animal Ecology,Ural Branch,Russian Academy of Sciences (№122021000092-9)
文摘The present article tests the following general assumption:plant taxa with different specializations towards mycorrhizal interactions should have different root syndromes.Roots of 61 species common in boreal zone were studied:16 species of Poaceae,24 species of Cyperaceae,14 species of Orchidaceae,and 7 species of Iridaceae.Using a fixed material of 5 individuals of each species,the following was determined:number of orders of branching roots;transverse dimensions of root,stele and cortex;number of primary xylem vessels and exodermis layers;length of root hairs;abundance of mycorrhiza.Species of each family had well-defined syndromes.Roots of Orchidaceae and Iridaceae were thick with a large stele and developed exodermis.Orchidaceae had no branching roots and had long root hairs.In Iridaceae,roots were branched,and root hairs were short.Roots of Poaceae and Cyperaceae were thin with a relatively thin stele.Root hairs were short in Poaceae and long in Cyperaceae.Our finding that root syndromes of four families of monocots differed is a new and unexpected discovery.The high specificity of root syndromes in Cyperaceae,Iridaceae,Poaceae,and Orchidaceae indicates that species of these families use different strategies to obtain water and soil nutrients.
基金the support from science and technology innovation special topic of Maoming City(No.2021KJZXZJYX011 and No.2022S014).
文摘Background:Traditional Chinese medicine(TCM)syndrome is the basic unit of TCM treatment,which help clinicians assess the disease progression and treatment preoperative of tumor patients.However,the prognostic significance of TCM syndrome is still unclear.This study aims to detect the differences in overall survival between different TCM syndrome and further develop a new nomogram with TCM syndrome for predicting overall survival in colorectal cancer.Methods:A total of 324 patients with colorectal cancer were enrolled and categorized into three groups based on TCM syndrome:deficiency,excess,and deficiency-excess.The prognosis of colorectal cancer patients with different TCM syndromes was evaluated using Kaplan-Meier analysis and Cox regression analysis.Results:The proportion of advanced stage and lymph metastasis in the patients with deficiency syndrome was higher,and the overall survival was shorter than other syndromes.Meanwhile,the TCM syndrome(P<0.001),tumor invasion depth(P<0.001),lymph metastasis(P=0.018),organic metastasis(P=0.005)and tumor node metastasis(TNM)stage(P=0.029)were the independent prognostic factor.Then,a new nomogram with TCM syndrome was established and assessed.324 colorectal cancer patients were randomly divided into training(n=215)and validation cohorts(n=109).A nomogram incorporating preoperative TCM syndrome,gender,age,T,N,and M status was developed,which had good discrimination and calibration.Conclusion:Taken together,our results indicated that TCM syndrome could assess the prognosis of colorectal cancer.The nomogram incorporating TCM syndromes and tumor information is helpful for risk stratification and prognostic predictions in colorectal cancer preoperatively.
基金Supported by The Russian Science Foundation,No.17-75-30027。
文摘Hereditary cancer syndromes(HCSs)are arguably the most frequent category of Mendelian genetic diseases,as at least 2%of presumably healthy subjects carry highly-penetrant tumor-predisposing pathogenic variants(PVs).Hereditary breast-ovarian cancer and Lynch syndrome make the highest contribution to cancer morbidity;in addition,there are several dozen less frequent types of familial tumors.The development of the majority albeit not all hereditary malignancies involves two-hit mechanism,i.e.the somatic inactivation of the remaining copy of the affected gene.Earlier studies on cancer families suggested nearly fatal penetrance for the majority of HCS genes;however,population-based investigations and especially large-scale next-generation sequencing data sets demonstrate that the presence of some highly-penetrant PVs is often compatible with healthy status.Hereditary cancer research initially focused mainly on cancer detection and prevention.Recent studies identified multiple HCS-specific drug vulnerabilities,which translated into the development of highly efficient therapeutic options.
基金supported by 2022 Special Project of Henan ProvinceChineseMedicineScientificResearch(2022ZY1048)2023 Special Project of Henan Province Chinese Medicine Scientific Research(2023YZ2043)Natural Science Foundation of Henan Province(232300421183).
文摘Objectives The objective of this study was to explore the correlation between the distribution of traditional Chinese medicine(TCM)syndromes and molecular types of breast cancer in the perichemotherapy period.Methods A total of 325 cases with perichemotherapy breast cancer was classified according to syndrome differentiation in TCM,and R×C table x2 test was used to examine and analyze the relationship between TCM syndromes and molecular types of breast cancer in the perichemotherapy period.Results(1)In the early stage of chemotherapy,there was no significant difference in the distribution of different TCM syndromes among molecular types,mainly liver depression syndrome and liver depression and phlegm coagulation syndrome(p>0.05).(2)In the middle stage of chemotherapy,there were significant differences in the distribution of spleen deficiency and phlegm-dampness syndrome among HER-2 positive(HR positive),HER-2 positive(HR negative),and Luminal Atype,Luminal B type(HER-2 negative),and triple-negative type(p<0.01).(3)After chemotherapy,there were significant differences in the distribution of spleen and kidney yang deficiency syndrome and marrow sea insufficiency syndrome among HER-2 positive(HR negative),triple-negative type,and HER-2 positive(HR positive),Luminal A type,Luminal B type(HER-2 negative),and triple-negative type(p<0.01).Conclusion(1)In the middle stage of chemotherapy,HER-2 positive(HR positive)and HER-2 positive(HR negative)are more likely to show spleen deficiency and phlegmdampness syndrome than other molecular types.(2)In the late stage of chemotherapy,the HER-2 positive(HR negative)and triple-negative type is more likely to show spleenkidney yang deficiency syndrome than other molecular types,and the triple-negative type is more likely to show marrow sea insufficiency syndrome than other molecular types.
文摘In this editorial we present an overview and insights of the management of hereditary polyposis syndromes.The primary focus was on familial adenomatous polyposis,juvenile polyposis syndrome and Peutz-Jegher syndrome.Genetic testing has become increasingly available and is easier than ever to integrate into clinical practice.Furthermore,several genes have been added to the expanding list of genes associated with hereditary polyposis syndromes,allowing for precise diagnostics and tailored follow-up.Endoscopic evaluation of patients with hereditary polyposis syndromes is paramount in the surveillance strategies.Current endoscopic procedures include both diagnostic procedures and surveillance as well as therapeutic interventions.Recommendations for endoscopic procedures in the upper and lower gastrointestinal canal were described.Surgery is still a key component in the management of patients with hereditary polyposis syndromes.The increased cancer risk in these patients often render prophylactic procedures or intended curative procedures in the case of cancer development.Surgical interventions in the upper and lower gastrointestinal canal were described with relevant considerations.Development of chemopreventive medications is ongoing.Few drugs have been investigated,including nonsteroidal anti-inflammatory drugs.It has been demonstrated that cyclooxygenase-2 inhibitors may lower the number of polyps.Other medications are currently under investigation,but none have,to date,consistently been able to prevent development of disease.
文摘Background: Ischaemic heart disease is the cause of 7.4 million deaths per year. Their prevention is based on the management of cardiovascular risk factors, but also on the early detection and management of chronic coronary syndromes (CCS), for which few data are available in Africa. The main objective of our study was to determine the factors related to significative coronary artery disease in patients undergoing coronarography for suspected chronic coronary syndrome (CCS). Methodology: We conducted a retrospective descriptive and analytical study over 2 years (from January, 1<sup>st</sup>, 2018 to December 31<sup>st</sup>, 2019) in the Cardiology Department of the University Hospital Aristide Le DANTEC in Dakar. All patients admitted for coronary angiography for suspected chronic coronary syndrome were included. Results: One hundred and fifty-two patients were included with a mean age of 60.79 ± 9.73 years, the most represented age group was 60 - 69 years. Advanced age was the most frequent risk factor (77.63%) followed by sedentary lifestyle (56.58%) and hypertension (41.45%). Diabetes was present in 17.1% of cases. A history of angioplasty was found in 1.97% of patients. Typical pain was found in 71.05% of cases, atypical pain in 19.74% and exertional dyspnoea in 2.63%. The pre-test probability was intermediate in 67.1% of cases, low in 25% and high in 7.9%. Significative coronary lesion was found in 52.63% of the patients, while coronary angiography was normal in the remaining cases. Tritroncular status was observed in 37.50%, it was bitroncular in 26.25% and monotroncular in 36.25% of cases. Factors associated with significative coronary artery disease were age (p = 0.0001), diabetes (p = 0.006), previous angioplasty (p = 0.023), previous myocardial infarction (p = 0.018), typical angina (p = 0.001), intermediate pretest probability (p = 0.001). Low pretest probability was significantly correlated with the absence of a coronary lesion with a p = 0.001. Conclusion: Our study shows that screening for chronic coronary disease should be done especially in diabetics, elderly subjects and those with previous angioplasty taking into account symptoms and pretest probability to avoid unnecessary invasive procedures.
文摘BACKGROUND During the second wave of the coronavirus disease 2019(COVID-19)pandemic,a subset of critically ill patients developed delayed respiratory deterioration in the absence of new infection,fluid overload or extra-pulmonary organ dysfunction.AIM To describe the clinical and laboratory characteristics,outcomes,and management of these patients,and to contrast this entity with other post COVID-19 immune dysregulation related inflammatory disorders.METHODS This was a retrospective observational study of adult patients admitted to the medical intensive care unit of a 2200-bed university affiliated teaching hospital,between May and August 2021,who fulfilled clearly defined inclusion and exclusion criteria.Outcome was assessed by a change in PaO_(2)/FiO_(2) ratio and levels of inflammatory markers before and after immunomodulation,duration of mechanical ventilation after starting treatment,and survival to discharge.RESULTS Five patients developed delayed respiratory deterioration in the absence of new infection,fluid overload or extrapulmonary organ dysfunction at a median interquartile range(IQR)duration of 32(23-35)d after the onset of symptoms.These patients had elevated inflammatory markers,required mechanical ventilation for 13(IQR 10-23)d,and responded to glucocorticoids and/or intravenous immunoglobulin.One patient died(20%).CONCLUSION This delayed respiratory worsening with elevated inflammatory markers and clinical response to immunomodulation appears to contrast the well described Multisystem Inflammatory Syndrome–Adults by the paucity of extrapulmonary organ involvement.The diagnosis can be considered in patients presenting with delayed respiratory worsening,that is not attributable to cardiac dysfunction,fluid overload or ongoing infections,and associated with an increase in systemic inflammatory markers like C-reactive protein,inteleukin-6 and ferritin.A good response to immunomodulation can be expected.This delayed inflammatory pulmonary syndrome may represent a distinct clinical entity in the spectrum of inflammatory syndromes in COVID-19 infection.
文摘The myelodysplastic/myeloproliferative neoplasms(MDS/MPNs) are a unique group of hematologic malignancies characterized by concomitant myelodysplastic and myeloproliferative features. According to the 2008 WHO classification, the category includes atypical chronic myeloid leukemia(a CML), chronic myelomonocytic leukemia(CMML), juvenile myelomonocytic leukemia(JMML), MDS/MPN-unclassifiable(MDS/MPN-U), and the provisional entity refractory anemia with ring sideroblasts and thrombocytosis(RARS-T). Although diagnosis currently remains based on clinicopathologic features, the incorporation of nextgeneration platforms has allowed for the recent molecular characterization of these diseases which has revealed unique and complex mutational profiles that support their distinct biology and is anticipated to soon play an integral role in diagnosis,prognostication, and treatment. Future goals of research should include the development of disease-modifying therapies, and further genetic understanding of the category will likely form the foundation of these efforts.
基金supported by the funding from the Spanish Society of Cardiology
文摘Background Elderly patients with non-ST-segment elevation acute coronary syndromes(NSTE-ACS)may present delirium but its clinical relevance is unknown.This study aimed at detennining the clinical associated factors,and prognostic implications of delirium in old-aged patients admitted for NSTE-ACS.Methods LONGEVO-SCA is a prospective multicenter registry including unselected patients with NSTE-ACS aged>80 years.Clinical variables and a complete geriatric evaluation were assessed during hospitalization.The association between delirium and 6-month mortality was assessed by a Cox regression model weighted for a propensity score including the potential confounding variables.We also analysed its association with 6-month bleeding and cognitive or functional decline.Results Among 527 patients included,thirty-seven(7%)patients presented delirium during the hospitalization.Delirium was more frequent in patients with dementia or depression and in those from nursing homes(27.0%vs.3.1%,24.3%vs.11.6%,and 11.1%V5.2.2%,respectively;all P<0.05).Delirium was significantly associated with in-hospital infections(27.0%vs.5.3%,P<0.001)and usage of diuretics(70.3%vs.49.8%,P=0.02).Patients with delirium had longer hospitalizations[median 8.5(5.5-14)vs.6.0(4.0-10)days,P=0.02]and higher incidence of 6-month bleeding and mortality(32.3%vs.10.0%and 24.3%vs.10.8%,respectively;both P<0.05)but similar cognitive or functional decline.Delirium was independently associated with 6-month mortality(HR=1.47,95%CI:1.02-2.13,P=0.04)and 6-month bleeding events(OR=2.87;95%CI:1.98-4」6,P<0.01).Conclusions In-hospital delirium in elderly patients with NSTE-ACS is associated with some preventable risk factors and it is an independent predictor of 6-month mortality.
基金Supported by A grant(in part)from the Municipal Key Discipline of Beijing,China,No.HK100230446the National Natural Science Foundation of China,No.81372578+1 种基金International Science and Technology Cooperation Projects,No.2010DFB33720Program for New Century Excellent Talents in University,No.NCET-11-0288
文摘AIM:To evaluate the risk factors for ampullary adenoma and ampullary cancer.METHODS:This case-control study included ampullary tumor patients referred to Peking Union Medical College Hospital.Controls were randomly selected from an existing database of healthy individuals at the Health Screening Center of the same hospital.Data on metabolic syndromes,medical conditions,and family history were collected by retrospective review of the patients’records and health examination reports,or by interview.RESULTS:A total of 181 patients and 905 age-and sex-matched controls were enrolled.We found that a history of diabetes,cholecystolithiasis,low-density lipoprotein,and apolipoprotein A were significantly related to ampullary adenomas.Diabetes,cholecystolithiasis,chronic pancreatitis,total cholesterol,high-density lipoprotein,and apolipoprotein A were also significantly related to ampullary cancer.CONCLUSION:Some metabolic syndrome components and medical conditions are potential risk factors for the development of ampullary tumors.Cholelithiasis,diabetes,and apolipoprotein A may contribute to the malignant transformation of benign ampullary adenomas into ampullary cancer.
文摘BACKGROUND:The complications of systemic inflammatory response syndrome(SIRS)include acute lung injury,acute kidney injury,shock,and multiple organ dysfunction syndrome(MODS).In recent years,how to clear inflammatory mediators has become a hot topic in critical care medicine.Researchers hypothesize that continuous blood purification(CBP) can effectively eliminate a variety of inflammatory mediators which participate in the occurrence of MODS and adjust the immune imbalance.This study aimed to observe the effects of CBP in MODS patients.METHODS:In this retrospective clinical study,a total of 38 MODS patients,18 males and 20 females,were enrolled.After conventional therapy,all the patients received CBP.Biochemistry,blood gas analysis,oxygenation index,mean arterial blood pressure(MAP),acute physiology and chronic health evaluation(APACHE) II scores were monitored.RESULTS:After CBP,the vital signs of patients were rapidly stable,and electrolyte disorders and acid-base imbalance were corrected.Renal function,blood gas,oxygenation index were all improved.MAP was increased,and APACHE II score was significantly decreased.All patients had good tolerance,stable hemodynamics,and no obvious adverse reaction on CBP compared with pre-CBP.CONCLUSION:CBP can effectively clean toxins,correct electrolyte acid-base balance,and improve systemic inflammatory response syndrome and the organ function of MODS patients.
基金supported by grants from NIH(No.1R01LM010185,1U01CA166886,and 1U01HL111560)
文摘Myelodysplastic syndromes have increased in frequency and incidence in the American population, but patient prognosis has not significantly improved over the last decade. Such improvements could be realized if biomarkers for accurate diagnosis and prognostic stratification were successfully identified. In this study, we propose a method that associates two state-of-the-art array technologies-single nucleotide polymorphism (SNP) array and gene expression array-with gene motifs considered transcription factor -binding sites (TFBS). We are particularly interested in SNP-containing motifs introduced by genetic variation and mutation as TFBS. The potential regulation of SNP-containing motifs affects only when certain mutations occur. These motifs can be identified from a group of co-expressed genes with copy number variation. Then, we used a sliding window to identify motif candidates near SNPs on gene sequences. The candidates were filtered by coarse thresholding and fine statistical testing. Using the regression-based LARS-EN algorithm and a level-wise sequence combination procedure, we identified 28 SNP-containing motifs as candidate TFBS. We confirmed 21 of the 28 motifs with ChIP-chip fragments in the TRANSFAC database. Another six motifs were validated by TRANSFAC via searching binding fragments on coregulated genes. The identified motifs and their location genes can be considered potential biomarkers for myelodysplastic syndromes. Thus, our proposed method, a novel strategy for associating two data categories, is capable of integrating information from different sources to identify reliable candidate regulatory SNP-containing motifs introduced by genetic variation and mutation.
文摘The progressive ageing of the population and the high incidence of acute coronary syndromes(ACS)in the elderly is leading to an important increase in the number of elderly patients admitted for ACS.[1]Nevertheless,the information about the optimal clinical management in this age group is scarce due to the exclusion of older patients from clinical trials.[2]Higher comorbidity and frailty are common in this clinical setting and they are associated with higher rates of complications and consumption of healthcare resources.[3]These are the main reasons for launching this special issue about management of ACS in the elderly,in which several experts in the field address some of the most important questions about how to deal with ACS in patients at older ages.
基金Supported by The University of Medicine and Pharmacy of Tirgu-Mures,Romania,team research projects frame:UMFTGMPO-CC-02-F01,No.19/2014
文摘Because of the rarity of familial gastrointestinal cancerpredisposing syndromes,their exploration in literature is not extensive.In this review,an update of the clinicopathological and molecular criteria of gastrointestinal familial polyposis syndromes with potential malignant transformation is performed.In addition,a guide for screening and surveillance was synthesized and a distribution of gene mutations according to the specific syndromes and geographic distribution was included.The following inherited polyposes syndromes were analyzed: familial adenomatous polyposis,the hamartomatous familial polyposes(Juvenile polyposis,Peutz-Jeghers syndrome,Cowden syndrome,BannayanRiley-Ruvalcaba syndrome,hereditary mixed polyposis syndrome,Gorlin syndrome,Birt-Hogg-Dube syndrome,neurofibromatosis type Ⅰand multiple endocrine neoplasia syndrome 2B),Li-Fraumeni syndrome,and MUTYHassociated adenomatous polyposis.For proper medical care,subspecialization of gastroenterologists,pathologists,and genticists in the field of familial diseases should be introduced in the medical curriculum.
文摘Atrial fibrillation(AF) is the most common type of sustained arrhythmia,which is now on course to reach epidemic proportions in the elderly population. AF is a commonly encountered comorbidity in patients with cardiac and major non-cardiac diseases. Morbidity and mortality associated with AF makes it a major healthcare burden. The objective of our article is to determine the prognostic impact of AF on acute coronary syndromes,heart failure and chronic kidney disease. Multiple studies have been conducted to determine if AF has an independent role in the overall mortality of such patients. Our review suggests that AF has an independent adverse prognostic impact on the clinical outcomes of acute coronary syndromes,heart failure and chronic kidney disease.
文摘Background Little information exists about the role of anemia in patients with acute coronary syndromes(ACS)admitted to Intensive Cardiac Care Units(ICCU).The aim of this study was to assess the prevalence of anemia and its impact on management and outcomes in this clinical setting.Methods All consecutive patients admitted to eight different ICCUs with diagnosis of non-ST segment elevation ACS(NSTEACS)were prospectively included.Anemia was defined as hemoglobin<130 g/L in men and<120 g/L in women.The association between anemia and mortality or readmission at six months was assessed by the Cox regression method.Results A total of 629 patients were included.Mean age was 66.6 years.A total of 197 patients(31.3%)had anemia.Coronary angiography was performed in most patients(96.2%).Patients with anemia were significantly older,with a higher prevalence of comorbidities,poorer left ventricle ejection fraction and higher GRACE score values.Patients with anemia underwent less often coronary angiography,but underwent more often intraaortic counterpulsation,non-invasive mechanical ventilation and renal replacement therapies.Both ICCU and hospital stay were significantly longer in patients with anemia.Both the incidence of mortality(HR=3.36,95%CI:1.43–7.85,P=0.001)and the incidence of mortality/readmission were significantly higher in patients with anemia(HR=2.80,95%CI:2.03–3.86,P=0.001).After adjusting for confounders,the association between anemia and mortality/readmission remained significant(P=0.031).Conclusions Almost one of three NSTEACS patients admitted to ICCU had anemia.Most patients underwent coronary angiography.Anemia was independently associated to poorer outcomes at 6 months.
文摘Colorectal cancer(CRC) is a major cause of morbidity and mortality around the world, and approximately 5% of them develop in a context of inherited mutations leading to some form of familial colon cancer syndromes. Recognition and characterization of these patients have contributed to elucidate the genetic basis of CRC. Polyposis Syndromes may be categorized by the predominant histological structure found within the polyps. The aim of the present paper is to review the most important clinical features of the Hamartomatous Polyposis Syndromes, a rare group of genetic disorders formed by the peutz-Jeghers syndrome, juvenil polyposis syndrome and PTEN Hamartoma Tumor Syndrome(Bannayan-Riley-Ruvalacaba and Cowden Syndromes). A literature search was performed in order to retrieve the most recent and important papers(articles, reviews, clinical cases and clinical guidelines) regarding the studied subject. We searched for terms such as "hamartomatous polyposis syndromes", "Peutz-Jeghers syndrome", "juvenile polyposis syndrome", "juvenile polyp", and "PTEN hamartoma tumour syndrome"(Cowden syndrome, Bananyan-Riley-Ruvalcaba). The present article reports the wide spectrum of disease severity and extraintestinal manifestations, with a special focus on their potential to develop colorectal and other neoplasia. In the literature, the reported colorectal cancer risk for Juvenile Polyposis, Peutz-Jeghers and PTEN Hamartoma Tumor Syndromes are 39%-68%, 39%-57% and 18%, respectively. A review regarding cancer surveillance recommendations is also presented.
