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Intestinal Behçet's disease: A review of clinical diagnosis and treatment
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作者 Ying Liu Feng Gao +1 位作者 Ding-Quan Yang Yan Jiao 《World Journal of Gastrointestinal Surgery》 SCIE 2024年第6期1493-1500,共8页
Behçet's disease(BD)is a chronic inflammatory disorder prone to frequent re-currences,with a high predilection for intestinal involvement.However,the ef-ficacy and long-term effects of surgical treatment for ... Behçet's disease(BD)is a chronic inflammatory disorder prone to frequent re-currences,with a high predilection for intestinal involvement.However,the ef-ficacy and long-term effects of surgical treatment for intestinal BD are unknown.In the current issue of World J Gastrointest Surg,Park et al conducted a retrospec-tive analysis of 31 patients with intestinal BD who received surgical treatment.They found that elevated C-reactive protein levels and emergency surgery were poor prognostic factors for postoperative recurrence,emphasizing the adverse impact of severe inflammation on the prognosis of patients with intestinal BD.This work has clinical significance for evaluating the postoperative condition of intestinal BD.The editorial attempts to summarize the clinical diagnosis and treatment of intestinal BD,focusing on the impact of adverse factors on surgical outcomes.We hope this review will facilitate more precise postoperative management of patients with intestinal BD by clinicians. 展开更多
关键词 Intestinal Behçet's disease diagnosis treatment SURGERY RECURRENCE
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Expert Consensus on the Diagnosis and Treatment of Anticancer Drug-Induced Interstitial Lung Disease 被引量:2
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作者 Fei MA Hua-ping DAI 《Current Medical Science》 SCIE CAS 2023年第1期1-12,共12页
Drug-induced interstitial lung disease(DILD)is the most common pulmonary adverse event of anticancer drugs.In recent years,the incidence of anticancer DILD has gradually increased with the rapid development of novel a... Drug-induced interstitial lung disease(DILD)is the most common pulmonary adverse event of anticancer drugs.In recent years,the incidence of anticancer DILD has gradually increased with the rapid development of novel anticancer agents.Due to the diverse clinical manifestations and the lack of specific diagnostic criteria,DILD is difficult to diagnose and may even become fatal if not treated properly.Herein,a multidisciplinary group of experts from oncology,respiratory,imaging,pharmacology,pathology,and radiology departments in China has reached the“expert consensus on the diagnosis and treatment of anticancer DILD”after several rounds of a comprehensive investigation.This consensus aims to improve the awareness of clinicians and provide recommendations for the early screening,diagnosis,and treatment of anticancer DILD.This consensus also emphasizes the importance of multidisciplinary collaboration while managing DILD. 展开更多
关键词 drug-induced interstitial lung disease anticancer drug diagnosis treatment
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Epidemiology,therapy and outcome of hepatocellular carcinoma between 2010 and 2019 in Piedmont,Italy
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作者 Christian Bracco Marta Gallarate +9 位作者 Marco Badinella Martini Corrado Magnino Salvatore D'Agnano Roberta Canta Giulia Racca Remo Melchio Cristina Serraino Valentina Polla Mattiot Giovanni Gollè Luigi Fenoglio 《World Journal of Gastrointestinal Oncology》 SCIE 2024年第3期761-772,共12页
BACKGROUND Hepatocellular carcinoma(HCC)is the most common primary liver malignancy and the second leading cause of cancer deaths worldwide.It is often diagnosed at an advanced stage and therefore its prognosis remain... BACKGROUND Hepatocellular carcinoma(HCC)is the most common primary liver malignancy and the second leading cause of cancer deaths worldwide.It is often diagnosed at an advanced stage and therefore its prognosis remains poor with a low 5-year survival rate.HCC patients have increasingly complex and constantly changing characteristics,thus up-to-date and comprehensive data are fundamental.AIM To analyze the epidemiology and main clinical characteristics of HCC patients in a referral center hospital in the northwest of Italy between 2010 and 2019.METHODS In this retrospective study,we analyzed the clinical data of all consecutive patients with a new diagnosis of HCC recorded at"Santa Croce e Carle"Hospital in Cuneo(Italy)between 1 January 2010 and 31 December 2019.To highlight possible changes in HCC patterns over the 10-year period,we split the population into two 5-year groups,according to the diagnosis period(2010-2014 and 2015-2019).RESULTS Of the 328 HCC patients who were included(M/F 255/73;mean age 68.9±11.3 years),154 in the first period,and 174 in the second.Hepatitis C virus infection was the most common HCC risk factor(41%,135 patients).The alcoholic etiology rate was 18%,the hepatitis B virus infection etiology was 5%,and the non-viral/non-alcoholic etiology rate was 22%.The Child-Pugh score distribution of the patients was:class A 75%,class B 21%and class C 4%.The average Mayo end-stage liver disease score was 10.6±3.7.A total of 55 patients(17%)were affected by portal vein thrombosis and 158(48%)by portal hypertension.The average nodule size of the HCC was 4.6±3.1 cm.A total of 204 patients(63%)had more than one nodule<3,and 92%(305 patients)had a non-metastatic stage of the disease.The Barcelona Clinic Liver Cancer(BCLC)staging distribution of all patients was:4%very early,32%early,23%intermediate,34%advanced,and 7%terminal.Average survival rate was 1.6±0.3 years.Only 20%of the patients underwent treatment.Age,presence of ascites,BCLC stage and therapy were predictors of a better prognosis(P<0.01).A comparison of the two 5-year groups revealed a statistically significant difference only in global etiology(P<0.05)and alpha-fetoprotein(AFP)levels(P<0.01).CONCLUSION In this study analyzing patients with a new diagnosis of HCC between 2010-2019,hepatitis C virus infection was the most common etiology.Most patients presented with an advanced stage disease and a poor prognosis.When comparing the two 5-year groups,we observed a statistically significant difference only in global etiology(P<0.05)and AFP levels(P<0.01). 展开更多
关键词 Hepatocellular carcinoma Hepatitis virus Alcoholic hepatitis Non-alcoholic fatty liver disease diagnosis ETIOLOGY treatment
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A Case Report on Treating Progressive Supranuclear Palsy with a Combination of Chinese and Western Medicine
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作者 Kai Wu Yongjie Gong +1 位作者 Shan Yang Yalan Yu 《Journal of Clinical and Nursing Research》 2024年第5期23-29,共7页
A case of progressive supranuclear palsy in a 66-year-old woman is presented.The patient complained of“progressive stiffness of both lower limbs for five years,accompanied by choking and coughing for more than 1 year... A case of progressive supranuclear palsy in a 66-year-old woman is presented.The patient complained of“progressive stiffness of both lower limbs for five years,accompanied by choking and coughing for more than 1 year,”and was diagnosed with paralysis in traditional Chinese medicine(TCM),which was characterized by a deficiency of liver and kidney,and phlegm and blood stasis blocking the collaterals.Western medicine diagnosed it as progressive supranuclear palsy.The patient was diagnosed with“Parkinson’s disease”several times in the past and was given“polybasic hydrazide”and“amantadine hydrochloride tablets,”etc.The patient did not have significant symptomatic relief,so she sought further treatment with a combination of traditional Chinese and Western medicine.Based on the concept of deficiency and excess,this disease is categorized as a paralytic disease in Chinese medicine,and the onset of the disease is closely related to the deficiency of the body after a long period of illness,with wind,phlegm,blood stasis,and deficiency as the main pathogenetic mechanism.The treatment is based on the combination of disease and evidence,with traditional Chinese medicine and acupuncture as the main treatments,supplemented by intermediate-frequency pulsed electrical stimulation,transcranial repetitive magnetic stimulation,medicated canisters,wax therapy,traditional Chinese medicine guasha,and acupoint injections.Western medicine is based on symptomatic treatment,and the patient’s symptoms were relieved significantly after the combination of Chinese and Western medicine. 展开更多
关键词 Progressive supranuclear palsy Paralytic disease diagnosis and treatment Deficiency and excess Combination of Chinese and Western medicine
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Globus pharyngeus:A review of its etiology,diagnosis and treatment 被引量:17
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作者 Bong Eun Lee Gwang Ha Kim 《World Journal of Gastroenterology》 SCIE CAS CSCD 2012年第20期2462-2471,共10页
Globus is a persistent or intermittent non-painful sensation of a lump or foreign body in the throat.It is a commonly encountered clinical condition that is usually long-lasting,difficult to treat,and has a tendency t... Globus is a persistent or intermittent non-painful sensation of a lump or foreign body in the throat.It is a commonly encountered clinical condition that is usually long-lasting,difficult to treat,and has a tendency to recur.Furthermore,due to the uncertain etiology of globus,it remains difficult to establish standard investigation and treatment strategies for affected patients. As a first step for managing globus,careful history taking and nasolaryngoscopy are essential.Given the benign nature of the condition and the recent notion that gastroesophageal reflux disease is a major cause of globus,empirical therapy with a high dose of proton pump inhibitors is reasonable for patients with typical globus.If patients are nonresponsive to this therapy, definitive assessments such as endoscopy,multichannel intraluminal impedance/pH monitoring,and ma-nometry should be considered.Speech and language therapy,anti-depressants,and cognitive-behavioral therapy can be helpful in patients whose symptoms persist despite negative investigations. 展开更多
关键词 diagnosis Gastroesophageal reflux disease GLOBUS Proton pump inhibitor treatment
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Diagnosis and treatment of gastroesophageal reflux disease in infants and children 被引量:7
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作者 Yvan Vandenplas(PhD.,Academic Children’s Hospital,Free University of Brussels,Laarbeeklaan 101) 《World Journal of Gastroenterology》 SCIE CAS CSCD 1999年第5期375-382,共8页
关键词 diagnosis and treatment of gastroesophageal reflux disease in infants and children
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Chagas heart disease:An overview of diagnosis,manifestations,treatment,and care 被引量:1
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作者 Roberto M Saraiva Mauro Felippe F Mediano +8 位作者 Fernanda SNS Mendes Gilberto Marcelo Sperandio da Silva Henrique H Veloso Luiz Henrique C Sangenis Paula Simplício da Silva Flavia Mazzoli-Rocha Andréa S Sousa Marcelo T Holanda Alejandro M Hasslocher-Moreno 《World Journal of Cardiology》 2021年第12期654-675,共22页
Chagas heart disease(CHD)affects approximately 30%of patients chronically infected with the protozoa Trypanosoma cruzi.CHD is classified into four stages of increasing severity according to electrocardiographic,echoca... Chagas heart disease(CHD)affects approximately 30%of patients chronically infected with the protozoa Trypanosoma cruzi.CHD is classified into four stages of increasing severity according to electrocardiographic,echocardiographic,and clinical criteria.CHD presents with a myriad of clinical manifestations,but its main complications are sudden cardiac death,heart failure,and stroke.Importantly,CHD has a higher incidence of sudden cardiac death and stroke than most other cardiopathies,and patients with CHD complicated by heart failure have a higher mortality than patients with heart failure caused by other etiologies.Among patients with CHD,approximately 90%of deaths can be attributed to complications of Chagas disease.Sudden cardiac death is the most common cause of death(55%–60%),followed by heart failure(25%–30%)and stroke(10%–15%).The high morbimortality and the unique characteristics of CHD demand an individualized approach according to the stage of the disease and associated complications the patient presents with.Therefore,the management of CHD is challenging,and in this review,we present the most updated available data to help clinicians and cardiologists in the care of these patients.We describe the clinical manifestations,diagnosis and classification criteria,risk stratification,and approach to the different clinical aspects of CHD using diagnostic tools and pharmacological and non-pharmacological treatments. 展开更多
关键词 Chagas disease diagnosis treatment Heart failure ARRHYTHMIA Stroke
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Adoption of Artificial Intelligence for Diagnosis and Treatment of <i>Staphylococcus aureus</i>Infections Disease on Humans 被引量:1
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作者 Kanayo Kizito Uka Stanley Ikechukwu Oguoma +1 位作者 Chekwube Alphonsus Chukwu Chijioke Izuchukwu Emele 《E-Health Telecommunication Systems and Networks》 2020年第1期1-15,共15页
The aim of this paper is to develop an expert system that could aid medical practitioner to effectively diagnose and treat Staphylococcus aureus infections disease on a human. The objective of the research includes to... The aim of this paper is to develop an expert system that could aid medical practitioner to effectively diagnose and treat Staphylococcus aureus infections disease on a human. The objective of the research includes to develop an expert system for quick diagnosis and detection of Staphylococcus aureus bacteria on human skin, a system that aids in accurate treatment of staph infectious diseases by doctors, helps in quick decision making in the hospital, improves accuracy in drug prescription, and a system that will bring about computerized storage process, and to enlighten the knowledge workers on how to implement a computer based decision support systems and importance of it in the health care. The research was motivated due to delay in diagnosis and identification of Staphylococcus aureus bacteria and the fast rate at which infectious disease is spreading, delay in treatment of these bacteria, increase of guess work by health practitioners leading to delay in decision making and lack of electronic storage facility in the hospitals. Top down approach was used in the system design of this research while adopting expert system as the methodology and the programming language used was Java and database design used was MySQL. The result after design was a computerized standalone application that assists health practitioners (Doctor’s) in quick identification, diagnosis, prescription and treatment of Staphylococcus aureus bacteria on human skin. The expert system will facilitate quick decision making in the clinic. 展开更多
关键词 Artificial Intelligence Expert System diagnosis treatment STAPHYLOCOCCUS AUREUS INFECTIOUS Disease
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Nanomedicine: Tiny Particles and Machines, from Diagnosis to Treatment of Cardiovascular Disease, Provides Huge Achievements
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作者 Md. Ismail Md. Faruk Hossain +1 位作者 Md. Fazlul Karim Hossain Uddin Shekhar 《Advances in Bioscience and Biotechnology》 2015年第9期613-623,共11页
Cardiovascular disease is one of many reverberating ailments that affect and kill hundreds of thousands of people around the world. To date treatments that offer improvement in the health condition of diseased people ... Cardiovascular disease is one of many reverberating ailments that affect and kill hundreds of thousands of people around the world. To date treatments that offer improvement in the health condition of diseased people include the most promising nanomedicine although it is in its infancy, yet attaining attention from researchers of top notch day by day. In this current review importance is given on the application of nanomedicine in the diagnosis as well as treatment of cardiovascular disease. 展开更多
关键词 NANOMEDICINE CARDIOVASCULAR Disease diagnosis treatment
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Application of artificial intelligence in liver diseases: From diagnosis to treatment
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作者 Qiong Li Jun-Feng Li Xiao-Rong Mao 《Artificial Intelligence in Gastroenterology》 2021年第5期133-140,共8页
Infectious or noninfectious liver disease has inexorably risen as one of the leading causes of global death and disease burden.There were an estimated 2.14 million liver-related deaths in 2017,representing an 11.4%inc... Infectious or noninfectious liver disease has inexorably risen as one of the leading causes of global death and disease burden.There were an estimated 2.14 million liver-related deaths in 2017,representing an 11.4%increase since 2012.Traditional diagnosis and treatment methods have various dilemmas in different causes of liver disease.As a hot research topic in recent years,the application of artificial intelligence(AI)in different fields has attracted extensive attention,and new technologies have brought more ideas for the diagnosis and treatment of some liver diseases.Machine learning(ML)is the core of AI and the basic way to make a computer intelligent.ML technology has many potential uses in hepatology,ranging from exploring new noninvasive means to predict or diagnose different liver diseases to automated image analysis.The application of ML in liver diseases can help clinical staff to diagnose and treat different liver diseases quickly,accurately and scientifically,which is of importance for reducing the incidence and mortality of liver diseases,reducing medical errors,and promoting the development of medicine.This paper reviews the application and prospects of AI in liver diseases,and aims to improve clinicians’awareness of the importance of AI in the diagnosis and treatment of liver diseases. 展开更多
关键词 Artificial intelligence Machine learning Liver disease diagnosis treatment PROGNOSIS
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Diagnosis and Treatment of Chronic Cough due toGastroesophageal Reflux Disease
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作者 黄漾 邱忠民 《China Medical Abstracts》 2007年第1期77-82,共6页
Gastroesophageal reflux disease is one of most common causes of chronic cough. Medical history offers few clues as to the cause of cough induced by this disease. 24-h esophageal ph monitoring is considered as the most... Gastroesophageal reflux disease is one of most common causes of chronic cough. Medical history offers few clues as to the cause of cough induced by this disease. 24-h esophageal ph monitoring is considered as the most sensitive and specific test for the diagnosis. When it is unavailable or unsuitable, upper gastrointestinal endoscopy and barium esophagography can be used as an alternative examination. Combined multichannel intraluminal impedance and pH testing is promising because of its ability to detect non-acid reflux as well as acid reflux. Empiric therapy trial is a simple and cheap way to identify suspected patients. Drug therapy is effective in most of the patients, in which proton pump inhibitors is the most powerful. Antireflux surgery is the last choice,used only when intensive drug therapy fails. The definitive diagnosis of cough due to gastroesophageal reflux disease can be established only after cough improves or cc.npletely disappears with antireflux therapy. 展开更多
关键词 Gastroesophageal reflux disease Chronic cough diagnosis treatment
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Celiac disease:Prevalence,diagnosis,pathogenesis and treatment 被引量:19
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作者 Naiyana Gujral Hugh J Freeman Alan BR Thomson 《World Journal of Gastroenterology》 SCIE CAS CSCD 2012年第42期6036-6059,共24页
Celiac disease(CD) is one of the most common diseases,resulting from both environmental(gluten) and genetic factors [human leukocyte antigen(HLA) and nonHLA genes].The prevalence of CD has been estimated to approximat... Celiac disease(CD) is one of the most common diseases,resulting from both environmental(gluten) and genetic factors [human leukocyte antigen(HLA) and nonHLA genes].The prevalence of CD has been estimated to approximate 0.5%-1% in different parts of the world.However,the population with diabetes,autoimmune disorder or relatives of CD individuals have even higher risk for the development of CD,at least in part,because of shared HLA typing.Gliadin gains access to the basal surface of the epithelium,and interact directly with the immune system,via both trans-and para-cellular routes.From a diagnostic perspective,symptoms may be viewed as either "typical" or "atypical".In both positive serological screening results suggestive of CD,should lead to small bowel biopsy followed by a favourable clinical and serological response to the gluten-free diet(GFD) to confirm the diagnosis.Positive anti-tissue transglutaminase antibody or antiendomysial antibody during the clinical course helps to confirm the diagnosis of CD because of their over 99% specificities when small bowel villous atrophy is present on biopsy.Currently,the only treatment available for CD individuals is a strict life-long GFD.A greater understanding of the pathogenesis of CD allows alternative future CD treatments to hydrolyse toxic gliadin peptide,prevent toxic gliadin peptide absorption,blockage of selective deamidation of specific glutamine residues by tissue,restore immune tolerance towards gluten,modulation of immune response to dietary gliadin,and restoration of intestinal architecture. 展开更多
关键词 Celiac disease DEMOGRAPHY diagnosis PATHOGENESIS treatment
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Non-alcoholic fatty liver disease and diabetes: From physiopathological interplay to diagnosis and treatment 被引量:21
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作者 Nathalie C Leite Cristiane A Villela-Nogueira +1 位作者 Claudia R L Cardoso Gil F Salles 《World Journal of Gastroenterology》 SCIE CAS 2014年第26期8377-8392,共16页
Non-alcoholic fatty liver disease(NAFLD)is highly prevalent in patients with diabetes mellitus and increasing evidence suggests that patients with type 2diabetes are at a particularly high risk for developing the prog... Non-alcoholic fatty liver disease(NAFLD)is highly prevalent in patients with diabetes mellitus and increasing evidence suggests that patients with type 2diabetes are at a particularly high risk for developing the progressive forms of NAFLD,non-alcoholic steatohepatitis and associated advanced liver fibrosis.Moreover,diabetes is an independent risk factor for NAFLD progression,and for hepatocellular carcinoma development and liver-related mortality in prospective studies.Notwithstanding,patients with NAFLD have an elevated prevalence of prediabetes.Recent studies have shown that NAFLD presence predicts the development of type2 diabetes.Diabetes and NAFLD have mutual pathogenetic mechanisms and it is possible that genetic and environmental factors interact with metabolic derangements to accelerate NAFLD progression in diabetic patients.The diagnosis of the more advanced stages of NAFLD in diabetic patients shares the same challenges as in non-diabetic patients and it includes imaging and serological methods,although histopathological evaluation is still considered the gold standard diagnostic method.An effective established treatment is not yet available for patients with steatohepatitis and fibrosis and randomized clinical trials including only diabetic patients are lacking.We sought to outline the published data including epidemiology,pathogenesis,diagnosis and treatment of NAFLD in diabetic patients,in order to better understand the interplay between these two prevalent diseases and identify the gaps that still need to be fulfilled in the management of NAFLD in patients with diabetes mellitus. 展开更多
关键词 Non-alcoholic fatty liver disease Diabetes mellitus PATHOGENESIS diagnosis treatment
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Controversies in diagnosis and management of Kawasaki disease 被引量:18
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作者 Rakesh Kumar Pilania Dharmagat Bhattarai Surjit Singh 《World Journal of Clinical Pediatrics》 2018年第1期27-35,共9页
Kawasaki disease(KD) is a common medium vessel systemic vasculitis that usually occurs in small children. It has a predilection for the coronary arteries, but other medium sized arteries can also be involved. The etio... Kawasaki disease(KD) is a common medium vessel systemic vasculitis that usually occurs in small children. It has a predilection for the coronary arteries, but other medium sized arteries can also be involved. The etiology of this disorder remains a mystery. Though typical presentation of KD is quite characteristic, it may also present as incomplete or atypical disease in which case the diagnosis can be very challenging. As both incomplete and atypical forms of KD can be associated with serious coronary artery complications, the pediatrician can ill afford to miss these diagnoses. The American Heart Association has enunciated consensus guidelines to facilitate the clinical diagnosis and treatment of this condition. However, there are still several issues that remain controversial. Intravenous immunoglobulin remains the cornerstone of management but several other treatment modalities, especially glucocorticoids, are increasingly finding favour. We review here some of the contemporary issues, and the controversies thereon, pertaining to management of KD. 展开更多
关键词 KAWASAKI DISEASE diagnosis INTRAVENOUS IMMUNOGLOBULIN treatment CONTROVERSIES
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Polycystic liver disease: Classification, diagnosis, treatment process, and clinical management 被引量:11
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作者 Ze-Yu Zhang Zhi-Ming Wang Yun Huang 《World Journal of Hepatology》 2020年第3期72-83,共12页
Polycystic liver disease(PLD)is a rare hereditary disease that independently exists in isolated PLD,or as an accompanying symptom of autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidn... Polycystic liver disease(PLD)is a rare hereditary disease that independently exists in isolated PLD,or as an accompanying symptom of autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease with complicated mechanisms.PLD currently lacks a unified diagnostic standard.The diagnosis of PLD is usually made when the number of hepatic cysts is more than 20.Gigot classification and Schnelldorfer classification are now commonly used to define severity in PLD.Most PLD patients have no clinical symptoms,and minority with severe complications need treatments.Somatostatin analogues,mammalian target of rapamycin inhibitor,ursodeoxycholic acid and vasopressin-2 receptor antagonist are the potentially effective medical therapies,while cyst aspiration and sclerosis,transcatheter arterial embolization,fenestration,hepatic resection and liver transplantation are the options of invasion therapies.However,the effectiveness of these therapies except liver transplantation are still uncertain.Furthermore,there is no unified strategy to treat PLD between medical centers at present.In order to better understand recent study progresses on PLD for clinical practice and obtain potential directions for future researches,this review mainly focuses on the recent progress in PLD classification,clinical manifestation,diagnosis and treatment.For information,we also provided medical treatment processes of PLD in our medical center. 展开更多
关键词 POLYCYSTIC LIVER DISEASE Autosomal dominant POLYCYSTIC KIDNEY DISEASE Autosomal RECESSIVE POLYCYSTIC KIDNEY DISEASE Isolated POLYCYSTIC LIVER DISEASE diagnosis treatment
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The Diagnostic and Therapeutic Challenges of Fabry Nephropathy—A Review of the Literature, Illustrated by a Clinical Case
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作者 Stefan Van Cauwelaert Caroline Geers +3 位作者 Dominique Vandervelde Esther Scheirlynck Alexander Gheldof Karl-Martin Wissing 《Open Journal of Nephrology》 2023年第4期349-368,共20页
Fabry Disease (FD) is a rare lysosomal storage disorder characterized by α-galactosidase A (α-Gal A) enzyme deficiency, resulting in glycosphingolipid accumulation. Its clinical spectrum ranges from severe classical... Fabry Disease (FD) is a rare lysosomal storage disorder characterized by α-galactosidase A (α-Gal A) enzyme deficiency, resulting in glycosphingolipid accumulation. Its clinical spectrum ranges from severe classical to milder nonclassical or late-onset phenotypes. Renal involvement, termed Fabry Nephropathy (FN), can vary from mild proteinuria to kidney failure. FN diagnosis, especially in nonclassical cases with a genetic Variant of Unknown Significance (VUS) in the GLA gene, poses challenges. Measurement of plasma lyso-Gb3 levels is gaining importance in FN diagnosis, while renal biopsy with electron microscopy remains the gold standard in equivocal cases. Treatment options include Enzyme Replacement Therapy (ERT) and chaperone therapy, demanding careful candidate selection due to high treatment costs. Research has predominantly focused on classical FD, revealing modest treatment benefits. However, evidence for treating patients, especially females, with milder nonclassical or late-onset phenotypes is scarce, emphasizing the necessity for placebo-controlled clinical trials in these subgroups. Meanwhile, participation in global FD registries can improve our understanding of disease management. Case Presentation: A woman in her late sixties presented with moderate chronic kidney disease, mild proteinuria, and microscopic hematuria. Her family history included a prevalence of renal, cardiac and cerebrovascular diseases. Kidney biopsy revealed characteristic myelin figures and zebra bodies in podocytes, strongly suggestive of FN. Genetic analysis identified a VUS in the GLA gene (c.655A > C, p.Ile219Leu), introducing diagnostic uncertainty. Further investigations revealed severe cardiac involvement. Considering the recurring difficulty presented by the finding of a VUS in the GLA gene during FN assessments, along with the uncertainty regarding the need for treatment in nonclassical or late-onset FD phenotypes, especially in women, this case becomes a central focus for a thorough review of the literature. This review aims to propose a practical algorithm that integrates clinical, biochemical, and genetic markers for FN screening and diagnosis. Additionally, it explores treatment benefits in nonclassical or late-onset FD phenotypes, with a focus on female patients. 展开更多
关键词 Fabry Disease Fabry Nephropathy Variants of Unknown Significance diagnosis treatment Selection Lysosomal Storage Disorder α-Galactosidase A Glycosphingolipid Accumulation Enzyme Replacement Therapy Migalastat
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Necroptosis contributes to non-alcoholic fatty liver disease pathoetiology with promising diagnostic and therapeutic functions
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作者 Hong-Ju Sun Bo Jiao +6 位作者 Yan Wang Yue-Hua Zhang Ge Chen Zi-Xuan Wang Hong Zhao Qing Xie Xiao-Hua Song 《World Journal of Gastroenterology》 SCIE CAS 2024年第14期1968-1981,共14页
Nonalcoholic fatty liver disease(NAFLD)is the most prevalent type of chronic liver disease.However,the disease is underappreciated as a remarkable chronic disorder as there are rare managing strategies.Several studies... Nonalcoholic fatty liver disease(NAFLD)is the most prevalent type of chronic liver disease.However,the disease is underappreciated as a remarkable chronic disorder as there are rare managing strategies.Several studies have focused on determining NAFLD-caused hepatocyte death to elucidate the disease pathoe-tiology and suggest functional therapeutic and diagnostic options.Pyroptosis,ferroptosis,and necroptosis are the main subtypes of non-apoptotic regulated cell deaths(RCDs),each of which represents particular characteristics.Considering the complexity of the findings,the present study aimed to review these types of RCDs and their contribution to NAFLD progression,and subsequently discuss in detail the role of necroptosis in the pathoetiology,diagnosis,and treatment of the disease.The study revealed that necroptosis is involved in the occurrence of NAFLD and its progression towards steatohepatitis and cancer,hence it has potential in diagnostic and therapeutic approaches.Nevertheless,further studies are necessary. 展开更多
关键词 Nonalcoholic fatty liver disease Apoptosis NECROPTOSIS Cell death diagnosis treatment
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Managing end-stage carcinoid heart disease:A case report and literature review
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作者 Nikola Bulj Vedran Tomasic Maja Cigrovski Berkovic 《World Journal of Gastrointestinal Oncology》 SCIE 2024年第3期1076-1083,共8页
BACKGROUND Gastroenteropancreatic neuroendocrine neoplasms(GEP-NENs)are rare tumors,often diagnosed in an advanced stage when curative treatment is impossible and grueling symptoms related to vasoactive substance rele... BACKGROUND Gastroenteropancreatic neuroendocrine neoplasms(GEP-NENs)are rare tumors,often diagnosed in an advanced stage when curative treatment is impossible and grueling symptoms related to vasoactive substance release by tumor cells affect patients’quality of life.Cardiovascular complications of GEP-NENs,primarily tricuspid and pulmonary valve disease,and right-sided heart failure,are the leading cause of death,even compared to metastatic disease.CASE SUMMARY We present a case of a 35-year-old patient with progressive dyspnea,back pain,polyneuropathic leg pain,and nocturnal diarrhea lasting for a decade before the diagnosis of neuroendocrine carcinoma of unknown primary with extensive liver metastases.During the initial presentation,serum biomarkers were not evaluated,and the patient received five cycles of doxorubicin,which he did not tolerate well,so he refused further therapy and was lost to follow-up.After 10 years,he presented to the emergency room with signs and symptoms of right-sided heart failure.Panneuroendocrine markers,serum chromogranin A,and urinary 5-hydroxyindoleacetic acid were extremely elevated(900 ng/mL and 2178µmol/L),and transabdominal ultrasound confirmed hepatic metastases.Computed tomo-graphy(CT)showed liver metastases up to 6 cm in diameter and metastases in mesenteric lymph nodes and pelvis.Furthermore,an Octreoscan showed lesions in the heart,thoracic spine,duodenum,and ascendent colon.A standard trans-thoracic echocardiogram confirmed findings of carcinoid heart disease.The patient was not a candidate for valve replacement.He started octreotide acetate treatment,and the dose escalated to 80 mg IM monthly.Although biochemical CONCLUSION Carcinoid heart disease occurs with carcinoid syndrome related to advanced neuroendocrine tumors,usually with liver metastases,which manifests as right-sided heart valve dysfunction leading to right-sided heart failure.Carcinoid heart disease and tumor burden are major prognostic factors of poor survival.Therefore,they must be actively sought by available biochemical markers and imaging techniques.Moreover,imaging techniques aiding tumor detection and staging,somatostatin receptor positron emission tomography/CT,and CT or magnetic resonance imaging,should be performed at the time of diagnosis and in 3-to 6-mo intervals to determine tumor growth rate and assess the possibility of locoregional therapy and/or palliative surgery.Valve replacement at the onset of symptoms or right ventricular dysfunction may be considered,while any delay can worsen right-sided ventricular failure. 展开更多
关键词 Gastroenteropancreatic neuroendocrine neoplasms Carcinoid syndrome Carcinoid heart disease diagnosis treatment Case report
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Research Status of TCM Rehabilitation in Chronic Obstructive Pulmonary Disease (COPD)
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作者 Ran MO Yuanhui JIANG 《Medicinal Plant》 2024年第3期67-70,共4页
This paper mainly analyzes the application status of TCM rehabilitation in chronic obstructive pulmonary disease(COPD),hoping to provide support and help for clinical staff through this study,and promote the further d... This paper mainly analyzes the application status of TCM rehabilitation in chronic obstructive pulmonary disease(COPD),hoping to provide support and help for clinical staff through this study,and promote the further development of COPD rehabilitation program. 展开更多
关键词 CHRONIC OBSTRUCTIVE PULMONARY disease (COPD) TCM Rehabilitation diagnosis and treatment
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Diagnosis and Control of Rabbit Hemorrhagic Disease(RHD)
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作者 Fang XIANG Rui GUO +4 位作者 Hongxue ZHANG Fujin LI Changhao LIU Qiumei SHI Xinhua SHAO 《Agricultural Biotechnology》 CAS 2016年第1期44-46,49,共4页
In this study, chronic-type rabbit hemorrhagic disease occurred in rabbit warrens of Shandong, Liaoning, Beijing and Hebei, which was mainly charac-terized by deaths of young and adult rabbits, longer durationand nerv... In this study, chronic-type rabbit hemorrhagic disease occurred in rabbit warrens of Shandong, Liaoning, Beijing and Hebei, which was mainly charac-terized by deaths of young and adult rabbits, longer durationand nerve symptoms, was surveyed by epidemiological investigation, bacterial isolation and incubation, artificial infection test and histopathologieal method to analyze the causes of chronic-type rabbit hemorrhagic disease and put forward the corresponding control measures. 展开更多
关键词 RABBIT Chronic-type rabbit hemorrhagic disease diagnosis and treatment
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