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Cronkhite-Canada syndrome with esophagus involvement and sixyear follow-up:A case report
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作者 Yu-Chen Tang 《World Journal of Gastroenterology》 SCIE CAS 2024年第8期984-990,共7页
BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare,noninherited disease characterized by gastrointestinal polyposis with diarrhea and ectodermal abnormalities.CCS polyps are distributed through the whole digestive tra... BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare,noninherited disease characterized by gastrointestinal polyposis with diarrhea and ectodermal abnormalities.CCS polyps are distributed through the whole digestive tract,and they are common in the stomach and colon but very uncommon in the esophagus.CASE SUMMARY Here,we present a case of a 63-year-old man with skin hyperpigmentation accompanied by diarrhea,alopecia,and loss of his fingernails.Laboratory data indicated anemia,hypoalbuminemia,hypocalcemia,hypokalemia,and positive fecal occult blood.Endoscopy showed numerous polyps scattered throughout the digestive tract,including the esophagus.He was treated with nutritional support and glucocorticoids with remission of his symptoms.CONCLUSION Comprehensive treatment led by hormonal therapy can result in partial or full remission of clinical symptoms.Treatment should be individualized for each patient according to their therapy response.Surveillance endoscopy is necessary for assessing mucosal disease activity and detecting malignant transformation. 展开更多
关键词 cronkhite-canada syndrome Gastrointestinal polyposis Hormonal therapy Prognosis Case report
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Sustained remission of Cronkhite-Canada syndrome after corticosteroid and mesalazine treatment: A case report
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作者 Ya-Lan Chen Rui-Yao Wang +1 位作者 Ling Mei Ran Duan 《World Journal of Clinical Cases》 SCIE 2024年第14期2431-2437,共7页
BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare disease of unknown etiology.The optimal treatment for CCS remains unknown.Treatment with corticosteroids is considered the mainstay treatment because of its high effi... BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare disease of unknown etiology.The optimal treatment for CCS remains unknown.Treatment with corticosteroids is considered the mainstay treatment because of its high efficacy,but the therapeutic strategy for steroid-resistant CCS is not yet established.CASE SUMMARY This is the case of an 81-year-old woman who was diagnosed with CCS.Given her severe diarrhea,nausea,vomiting,and hypoproteinemia,hormone therapy(40 mg/d)was administered,and the symptoms improved within 1 wk.After 3 mo,the patient had no obvious symptoms.The polyps were significantly reduced on review gastroscopy and colonoscopy,thus hormone reduction gradually began.The hormone level was maintained at 10 mg/d after 6 mo.Despite the age of the patient and the side effects of hormones,the patient had no obvious discomfort.However,hormone drugs were discontinued,and mesalazine was administered orally at 3 g/d.The patient's symptoms continued to improve after a follow-up of 5 years.CONCLUSION Corticosteroids and mesalazine are potential treatment options for CCS. 展开更多
关键词 cronkhite-canada syndrome Corticosteroids MESALAZINE Gastrointestinal polyposis Case report
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Cronkhite-Canada syndrome complicated with pulmonary embolism:A case report
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作者 Mao-Lang He Yong Zheng Shu-Xin Tian 《World Journal of Clinical Cases》 SCIE 2024年第21期4820-4826,共7页
BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare disease,that causes gastrointestinal polyps,ectodermal abnormalities,and gastrointestinal symptoms.CCS is prone to thromboembolism,but clinical workers have not yet e... BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare disease,that causes gastrointestinal polyps,ectodermal abnormalities,and gastrointestinal symptoms.CCS is prone to thromboembolism,but clinical workers have not yet established a clinical consciousness of preventing thromboembolism.The present case illustrates pulmonary embolism(PE)complicated by CCS.CASE SUMMARY A 46-year-old male patient presented with mucus,purulent,and bloody stool.Ectodermal changes included skin pigmentation,alopecia,and nail dystrophy.Colonoscopy revealed the presence of multiple polyps.After a comprehensive evaluation,the patient was diagnosed with CCS.During the disease,he was also diagnosed with pulmonary embolism,Riehl's melanosis,and intestinal flora imbalance.After symptomatic treatment with omeprazole,mesalazine,rivaroxaban,nutritional support,and regulation of intestinal flora,the patient’s symptoms were significantly relieved.CONCLUSION CCS complicated with PE was reported for the first time in China in this study.Despite the fact that CCS is extremely rare,patients with CCS should be classified as a high-risk venous thromboembolism(VTE)population,and emphasis should be placed on venous thromboembolism risk assessment and stratification,deep venous thromboembolism screening,prevention of VTE,and careful long-term follow-up. 展开更多
关键词 cronkhite-canada syndrome Pulmonary embolism Hip arthroplasty Venous thromboembolism Case report
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Cronkhite-Canada syndrome:Report of six cases and review of literature 被引量:7
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作者 Xiao-Heng Wen Lan Wang +1 位作者 Yu-Xuan Wang Jia-Ming Qian 《World Journal of Gastroenterology》 SCIE CAS 2014年第23期7518-7522,共5页
Cronkhite-Canada syndrome(CCS)is a rare nonfamilial polyposis syndrome characterized by epithelial disturbances in the gastrointestinal tract and skin.The aim of this study was to investigate the clinical features and... Cronkhite-Canada syndrome(CCS)is a rare nonfamilial polyposis syndrome characterized by epithelial disturbances in the gastrointestinal tract and skin.The aim of this study was to investigate the clinical features and potential therapies for CCS.Six patients with CCS admitted from December 1992 to July 2008 to Peking Union Medical College Hospital were evaluated.All patients had clinical manifestation of nonhereditary gastrointestinal polyposis with diarrhea,skin hyperpigmentation,alopecia,and nail dystrophy.Fecal occult blood was positive in all six cases.Serum hemoglobin,potassium,calcium and protein were below the normal range in two cases.Anti-Saccharomyces cerevisiae and antinuclear antibodies were present in three cases.Multiple polyps were found in all patients by gastroscopy and colonoscopy,with only one in the esophagus.Histologically,there were hyperplastic polyps in five cases,tubular adenoma in three,and juvenile polyp in one with chronic inflammation and mucosal edema.Comprehensive treatment led by corticosteroids can result in partial remission of clinical symptoms,and longterm follow-up is necessary. 展开更多
关键词 cronkhite-canada syndrome Clinical feature ETIOLOGY THERAPEUTICS
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Cronkhite-Canada syndrome associated with myelodysplastic syndrome 被引量:4
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作者 Rei Suzuki Atsushi Irisawa +4 位作者 Takuto Hikichi Yuta Takahashi Hiroko Kobayashi Hiromi Kumakawa Hiromasa Ohira 《World Journal of Gastroenterology》 SCIE CAS CSCD 2009年第46期5871-5874,共4页
We report a case of Cronkhite-Canada syndrome(CCS)associated with myelodysplastic syndrome(MDS).A 54-year-old woman,diagnosed as MDS the prior year after evaluation of anemia,visited our hospital with the chief compla... We report a case of Cronkhite-Canada syndrome(CCS)associated with myelodysplastic syndrome(MDS).A 54-year-old woman,diagnosed as MDS the prior year after evaluation of anemia,visited our hospital with the chief complaint of epigastric discomfort.She also had dysgeusia,alopecia,atrophic nail change,and pigmentation of the palm,all of which began several months ago.Blood tests revealed severe hypoalbuminemia.Colonoscopy(CS)showed numerous,dense,red polyps throughout the colon and rectum.Biopsy specimens showed stromal edema,infi ltration of lymphocytes,and cystic dilatation of the crypt.Her clinical manifestations and histology were consistent with CCS.We prescribed corticosteroids,which dramatically improved her physical findings,laboratory data,and endoscopic fi ndings.This is the first report of CCS in a patient with MDS. 展开更多
关键词 cronkhite-canada syndrome Myelody-splastic syndrome POLYPOSIS Steroid therapy
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Cronkhite-Canada syndrome with steroid dependency: A case report 被引量:1
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作者 Dan Jiang Guo-Du Tang +2 位作者 Ming-Yu Lai Zhen-Ning Huang Zhi-Hai Liang 《World Journal of Clinical Cases》 SCIE 2021年第14期3466-3471,共6页
BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare nonhereditary disease characterized by chronic diarrhoea,diffuse gastrointestinal polyposis and ectodermal manifestations.The lethality of CCS can be up to 50%if it i... BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare nonhereditary disease characterized by chronic diarrhoea,diffuse gastrointestinal polyposis and ectodermal manifestations.The lethality of CCS can be up to 50%if it is untreated or if treatment is delayed or inadequate.More than 35%of the patients do not achieve long-term clinical remission after corticosteroid administration,with relapse occurring during or after the cessation of glucocorticoid use.The optimal strategy of maintenance therapy of this disease is controversial.CASE SUMMARY A 47-year-old man presented to the hospital with a 3-mo history of frequent watery diarrhoea,accompanied by macular skin pigmentation that included the palms and soles,and onychodystrophy of the fingernails and toenails.Gastroscopy and colonoscopy revealed numerous polyps in the stomach and colon.After other possibilities were ruled out by a series of examinations,CCS was diagnosed and treated with prednisone.The patient took prednisone for more than 1 year before achieving complete resolution of his symptoms and endoscopic findings.The patient was then given prednisone 5 mg/d for 6 mo of maintenance therapy.With clinical improvement and polyp regression,prednisone was discontinued.Eight mo after the discontinuation of prednisone,the diarrhoea and gastrointestinal polyps relapsed.Therefore,the patient was given the same dose of prednisone,and complete remission was achieved again.CONCLUSION It is necessary to extend the duration of prednisone maintenance therapy for CCS.Prednisone is still effective when readministered after relapse.Surveillance endoscopy at intervals of 1 year or less is recommended to assess mucosal disease activity. 展开更多
关键词 cronkhite-canada syndrome Endoscopy PREDNISONE RELAPSE Maintenance therapy Case report
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Exome analysis for Cronkhite-Canada syndrome: A case report 被引量:1
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作者 Zhao-Dong Li Li Rong +4 位作者 Yuan-Jing He Yu-Zhu Ji Xiang Li Fang-Zhou Song Xiao-An Li 《World Journal of Clinical Cases》 SCIE 2022年第24期8634-8640,共7页
BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare,non-genetic disorder characterized by multiple gastrointestinal polyps,and ectodermal lesions such as alopecia,fingernail atrophy,and skin mucosal pigmentation.Unfort... BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare,non-genetic disorder characterized by multiple gastrointestinal polyps,and ectodermal lesions such as alopecia,fingernail atrophy,and skin mucosal pigmentation.Unfortunately,the pathogenesis of CCS is currently unknown.CASE SUMMARY Here,we describe the case of an elderly female with diarrhea,fatigue,and hair loss,who experienced abdominal pain for over half a year and was found to have multiple gastrointestinal polyps.She was diagnosed with CCS and was treated with albumin supplementation and prednisone,and her electrolyte imbalance was corrected.Following treatment,her symptoms significantly improved.To elucidate the role of potential genetic events in the pathogenesis of CCS,we performed exome sequencing using an extract of her colorectal adenoma.CONCLUSION Our data revealed multiple somatic mutations and copy number variations.Our findings provide a novel insight into the potential mechanisms of CCS etiology. 展开更多
关键词 Whole exome sequencing cronkhite-canada syndrome Somatic mutations Case report
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Surgery for Cronkhite-Canada syndrome complicated with intussusception:A case report and review of literature 被引量:1
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作者 Jie Dong Tian-Shi Ma +1 位作者 Jiang-Feng Tu You-Wei Chen 《World Journal of Gastrointestinal Surgery》 SCIE 2022年第2期200-210,共11页
BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare nonhereditary disease with a syndrome of multiple gastrointestinal polyps,skin pigmentation,hair loss,and fingernail/toenail dystrophy.Intussusception is a serious co... BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare nonhereditary disease with a syndrome of multiple gastrointestinal polyps,skin pigmentation,hair loss,and fingernail/toenail dystrophy.Intussusception is a serious condition with an occurrence rate of 5%in adults,which is mainly caused by intestinal tumors or other intestinal occupations.CASE SUMMARY A 57-year-old woman was admitted to our hospital due to abdominal distension and pain for the past year.Her nausea and vomiting symptoms had been aggravated for the past month.Previous transoral enteroscopy results one year prior showed chronic erosive gastritis protuberans,duodenitis,and jejunitis.She had sparse body hair and brown pigmentation on the skin of her hands and bilateral anterior tibias.The nails of both hands were pale and lacked luster,and the fingernail of her ring finger was longitudinally cracked.Gastroscopy showed extensive diffuse polypoid lump changes in the gastric body and antrum,of 0.5-3 cm in size.Colonoscopy showed multiple polypoid mucosal bulges in the terminal ileum and multiple polyps(0.3-5 cm)throughout the colon.The patient was diagnosed with CCS and underwent partial excision of the polyps,but she refused hormone therapy.One month later,the patient complained of nausea and vomiting,accompanied by abdominal pain and inability to pass gas or stool.Contrast-enhanced computed tomography of the abdomen showed gastrointestinal polyposis and ileocecal intussusception.She underwent stomach and bowel surgery.CONCLUSION CCS,as a rare disease with poor prognosis,should be treated aggressively.Systematic steroids,immunosuppressive agents,and biological agents were not applied;thus,the patient’s symptoms quickly progressed,and intussusception occurred.She had to undergo surgery.Improved compliance may lead to a better prognosis. 展开更多
关键词 cronkhite-canada syndrome INTUSSUSCEPTION Treatment Prognosis SURGERY Case report
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Thalidomide combined with endoscopy in the treatment of Cronkhite-Canada syndrome:A case report
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作者 Jia-Mei Rong Meng-Lin Shi +2 位作者 Jun-Kun Niu Juan Luo Ying-Lei Miao 《World Journal of Clinical Cases》 SCIE 2022年第28期10366-10374,共9页
BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare non-hereditary disease with a poor prognosis and a mortality rate of up to 55%.Currently,there is no standard treatment for CCS.The department of gastroenterology of ... BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare non-hereditary disease with a poor prognosis and a mortality rate of up to 55%.Currently,there is no standard treatment for CCS.The department of gastroenterology of our hospital admitted a patient with CCS whose symptoms improved significantly after treatment with thalidomide combined with endoscopy,and there was no obvious adverse reaction during the 2-year follow-up.CASE SUMMARY A 47-year-old Chinese man presented with diarrhea for more than 4 mo,accompanied by loss of taste,fatigue,and weight loss.Physical examination demonstrated that the patient’s skin and hands were hyperpigmented,the front edges of the nails of both hands were notably thickened and yellow,and the nails were partially atrophied.Gastrointestinal endoscopy identified a diffuse polypoid bulge,and the patient bore an albumin level of 27.3 g/L.The level of the calcium correction amount was(2.164 m M)which allowed for a comprehensive diagnosis of Cronkhite-Canada syndrome,combined with hypoalbuminemia and hypocalcemia.Thalidomide of 150 mg per day was administered to regulate immunity,and the symptoms were relieved after 1 wk.During the follow-up period,polyps were still found that had not been resolved by thalidomide treatment,and endoscopic therapy was performed.This resulted in further improvement of his condition and no particular discomfort during the 2 years of follow-up.CONCLUSION The patient’s symptoms were significantly relieved by thalidomide 2 years after treatment,proposing it as a potential treatment for CCS. 展开更多
关键词 cronkhite-canada syndrome Diarrhea POLYP THALIDOMIDE Endoscopic therapy Case report
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Cronkhite-Canada syndrome:First case report from Egypt and North Africa
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作者 Ahmed Elsayed Alzamzamy Ashraf Aboubakr +6 位作者 Hussein H Okasha Abeer Abdellatef Shaimaa Elkholy Mahmoudd Wahba Mohamed Alboraie Hussein Elsayed Mohamed O Othman 《World Journal of Gastrointestinal Endoscopy》 2022年第10期642-647,共6页
BACKGROUND Gastrointestinal(GI)polyposis is a rare condition in GI diseases.To date about 500 cases of Cronkhite-Canada syndrome(CCS)have been reported worldwide.CASE SUMMARY We report a 60-year-old female patient who... BACKGROUND Gastrointestinal(GI)polyposis is a rare condition in GI diseases.To date about 500 cases of Cronkhite-Canada syndrome(CCS)have been reported worldwide.CASE SUMMARY We report a 60-year-old female patient who presented with dyspepsia,abdominal pain,and weight loss of 1-year duration.Her physical examination showed alopecia and onychodystrophy.Upper endoscopy revealed diffuse markedly thickened gastric mucosa involving the whole stomach with thickened gastric rugae and numerous polypoidal lesions.Histopathological examination showed marked hyperplasia of the foveolar glands with inflammatory cell infiltration.Endoscopic ultrasound showed a significantly hypertrophic mucosa and muscularis mucosa,while the submucosa and the muscularis propria were spared,favouring its benign nature.Colonoscopy showed multiple sessile polyps scattered at different parts of the colon.Histopathological examination revealed tubular adenomatous polyps with low-grade dysplasia.Differential diagnoses included CCS,Menterier disease(MD),other polyposis syndromes,lymphoma,amyloidosis,and gastric malignancies.The presence of alopecia,nail dystrophy,GI polyposis,markedly thickened gastric mucosa and folds,abdominal pain,weight loss,and marked foveolar gland hyperplasia;all was in favour of CCS.Lymphoma was excluded due to sparing of the muscularis propria.The presence of colonic polyps and antral and duodenal infiltration,and the absence of hypoproteinaemia decreased the possibility for MD.CONCLUSION The patient was diagnosed as having CCS. 展开更多
关键词 Gastrointestinal polyposis Thickened gastric mucosa cronkhite-canada syndrome Case report
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Cronkhite-Canada syndrome polyps infiltrated with IgG4-positive plasma cells 被引量:4
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作者 Ru-Ying Fan Xiao-Wei Wang +2 位作者 Li-Jun Xue Ran An Jian-Qiu Sheng 《World Journal of Clinical Cases》 SCIE 2016年第8期248-252,共5页
Cronkhite-Canada syndrome(CCS) is a rare but serious protein-losing enteropathy, but little is known about the mechanism. Further more, misdiagnosis is common due to non-familiarity of its clinical manifestation. A 40... Cronkhite-Canada syndrome(CCS) is a rare but serious protein-losing enteropathy, but little is known about the mechanism. Further more, misdiagnosis is common due to non-familiarity of its clinical manifestation. A 40-year-old male patient was admitted to our hospital because of diarrhea and hypogeusia associated with weight loss for 4 mo. On physical examination, skin pigmentation, dystrophic nail changes and alopecia were noted. He had no alike family history. Laboratory results revealed low levels of serum albumin(30.1 g/L, range: 35.0-55.0 g/L), serum potassium(2.61 mmol/L, range: 3.5-5.5 mmol/L) and blood glucose(2.6 mmol/L, range: 3.9-6.1 mmol/L). The erythrocyte sedimentation rate was elevated to 17 mm/h(range: 0-15 mm/h). X-ray of chest and mandible was normal. The endoscopic examination showed multiple sessile polyps in the stomach, small bowel and colorectum. Histopathologic examination of biopsies obtained from those polyps showed hyperplastic change, cystic dilatation and distortion of glands with inflammatory infiltration, eosinophilic predominance and stromal edema. Immune staining for IgG 4 plasma cells was positive in polyps of stomach and colon. The patient was diagnosed of CCS and treated with steroid, he had a good response to steroid. Both histologic findings and treatment response to steroid suggested an autoimmune mechanism underling CCS. 展开更多
关键词 Gastrointestinal POLYPOSIS cronkhite-canada syndrome IGG4 plasma cells Autoimmune mechanism
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Cronkhite-Canada Syndrome: A Case Report and Literature Review of Gastrointestinal Polyposis Syndrome 被引量:1
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作者 Xinying Shen Michael Husson William Lipshutz 《Case Reports in Clinical Medicine》 2014年第12期650-659,共10页
Cronkhite-Canada syndrome (CCS) is a rare, non-inherited polyposis syndrome, characterized by diffuse gastrointestinal (GI) hamartomatous polyposis with unique dermatologic changes including alopecia, skin hyperpigmen... Cronkhite-Canada syndrome (CCS) is a rare, non-inherited polyposis syndrome, characterized by diffuse gastrointestinal (GI) hamartomatous polyposis with unique dermatologic changes including alopecia, skin hyperpigmentation, and nail dystrophy. Patients can typically present with diarrhea, weight loss, protein-losing enteropathy, and nutritional deficiency. However, it can demonstrate diverse other clinical features, usually with poor prognosis. Currently, there are no specific diagnostic criteria established yet. The etiology of CCS is still obscure, but an autoimmune process has been suggested. Here we present an 81-year-old Caucasian female who had clinical presentations, physical exam, imaging, endoscopy and pathology findings that were all consistent with the diagnosis of CCS. We also include a detailed literature review of the other gastrointestinal polyposis syndromes (hamartomatous, adenomatous, hyperplastic and inflammatory polyposis). A high index of suspicion and recognition of the characteristic clinical, endoscopic as well as histopathological findings of CCS, as well as different gastrointestinal polyposis conditions, can help clinicians with more timely and correct diagnosis. 展开更多
关键词 cronkhite-canada syndrome INTESTINAL POLYPOSIS Adenomatous POLYPOSIS Hamartomatous POLYPOSIS Hyperplastic POLYPOSIS Inflammatory POLYPOSIS
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Hepatocardiorenal syndrome in liver cirrhosis:Recognition of a new entity? 被引量:3
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作者 Henry H L Wu Amina Rakisheva +1 位作者 Arvind Ponnusamy Rajkumar Chinnadurai 《World Journal of Gastroenterology》 SCIE CAS 2024年第2期128-136,共9页
Emerging evidence and perspectives have pointed towards the heart playing an important role in hepatorenal syndrome(HRS),outside of conventional understanding that liver cirrhosis is traditionally considered the sole ... Emerging evidence and perspectives have pointed towards the heart playing an important role in hepatorenal syndrome(HRS),outside of conventional understanding that liver cirrhosis is traditionally considered the sole origin of a cascade of pathophysiological mechanisms directly affecting the kidneys in this context.In the absence of established heart disease,cirrhotic cardiomyopathy may occur more frequently in those with liver cirrhosis and kidney disease.It is a specific form of cardiac dysfunction characterized by blunted contractile responsiveness to stress stimuli and altered diastolic relaxation with electrophysiological abnormalities.Despite the clinical description of these potential cardiac-related complications of the liver,the role of the heart has traditionally been an overlooked aspect of circulatory dysfunction in HRS.Yet from a physiological sense,temporality(prior onset)of cardiorenal interactions in HRS and positive effects stemming from portosystemic shunting demonstrated an important role of the heart in the development and progression of kidney dysfunction in cirrhotic patients.In this review,we discuss current concepts surrounding how the heart may influence the development and progression of HRS,and the role of systemic inflammation and endothelial dysfunction causing circulatory dysfunction within this setting.The temporality of heart and kidney dysfunction in HRS will be discussed.For a subgroup of patients who receive portosystemic shunting,the dynamics of cardiorenal interactions following treatment is reviewed.Continued research to determine the unknowns in this topic is anticipated,hopefully to further clarify the intricacies surrounding the liver-heart-kidney connection and improve strategies for management. 展开更多
关键词 Hepatorenal syndrome Cardiorenal syndrome CIRRHOSIS Cardiac dysfunction Circulatory dysfunction
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Tricuspid mass-curious case of Li-Fraumeni syndrome: A case report 被引量:6
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作者 Tyler Huffaker Stella Pak +1 位作者 Anum Asif Prince Otchere 《World Journal of Clinical Cases》 SCIE 2024年第11期1936-1939,共4页
BACKGROUND Li-Fraumeni syndrome(LFS)is a rare autosomal dominant cancer-predisposing syndrome,which can manifest as a polymorphic spectrum of malignancies.LFS is associated with an early onset in life,with the majorit... BACKGROUND Li-Fraumeni syndrome(LFS)is a rare autosomal dominant cancer-predisposing syndrome,which can manifest as a polymorphic spectrum of malignancies.LFS is associated with an early onset in life,with the majority of cases occurring prior to the age of 46.Notwithstanding the infrequency of primary cardiac tumors,it behooves clinicians to remain vigilant in considering the differential diagnosis of such tumors in LFS patients who present with a cardiac mass.This is due to the markedly elevated risk for malignancy in this particular population,far surpassing that of the general populace.CASE SUMMARY Herein,we present a case of a 30-year-old female with LFS who was found to have a tricuspid valve leaflet mass.CONCLUSION This case exemplifies valuable learning points in the diagnostic approach for this exceptionally rare patient population. 展开更多
关键词 Li-Fraumeni syndrome Cardiac mass Intracardiac thrombus Transesophageal echocardiogram Cardiac magnetic resonance imaging Case report
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Protective mechanism of quercetin in alleviating sepsis-related acute respiratory distress syndrome based on network pharmacology and in vitro experiments 被引量:1
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作者 Weichao Ding Wei Zhang +7 位作者 Juan Chen Mengmeng Wang Yi Ren Jing Feng Xiaoqin Han Xiaohang Ji Shinan Nie Zhaorui Sun 《World Journal of Emergency Medicine》 SCIE CAS CSCD 2024年第2期111-120,共10页
BACKGROUND:Sepsis-related acute respiratory distress syndrome(ARDS)has a high mortality rate,and no effective treatment is available currently.Quercetin is a natural plant product with many pharmacological activities,... BACKGROUND:Sepsis-related acute respiratory distress syndrome(ARDS)has a high mortality rate,and no effective treatment is available currently.Quercetin is a natural plant product with many pharmacological activities,such as antioxidative,anti-apoptotic,and anti-inflammatory effects.This study aimed to elucidate the protective mechanism of quercetin against sepsis-related ARDS.METHODS:In this study,network pharmacology and in vitro experiments were used to investigate the underlying mechanisms of quercetin against sepsis-related ARDS.Core targets and signaling pathways of quercetin against sepsis-related ARDS were screened and were verified by in vitro experiments.RESULTS:A total of 4,230 targets of quercetin,360 disease targets of sepsis-related ARDS,and 211 intersection targets were obtained via database screening.Among the 211 intersection targets,interleukin-6(IL-6),tumor necrosis factor(TNF),albumin(ALB),AKT serine/threonine kinase 1(AKT1),and interleukin-1β(IL-1β)were identified as the core targets.A Gene Ontology(GO)enrichment analysis revealed 894 genes involved in the inflammatory response,apoptosis regulation,and response to hypoxia.Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analysis identified 106 pathways.After eliminating and generalizing,the hypoxia-inducible factor-1(HIF-1),TNF,nuclear factor-κB(NF-κB),and nucleotide-binding and oligomerization domain(NOD)-like receptor signaling pathways were identified.Molecular docking revealed that quercetin had good binding activity with the core targets.Moreover,quercetin blocked the HIF-1,TNF,NF-κB,and NODlike receptor signaling pathways in lipopolysaccharide(LPS)-induced murine alveolar macrophage(MH-S)cells.It also suppressed the inflammatory response,oxidative reactions,and cell apoptosis.CONCLUSION:Quercetin ameliorates sepsis-related ARDS by binding to its core targets and blocking the HIF-1,TNF,NF-κB,and NOD-like receptor signaling pathways to reduce inflammation,cell apoptosis,and oxidative stress. 展开更多
关键词 QUERCETIN Sepsis-related acute respiratory distress syndrome Network pharmacology
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Immunoglobulin G-mediated food intolerance and metabolic syndrome influence the occurrence of reflux esophagitis in Helicobacter pylori-infected patients 被引量:1
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作者 Li-Hui Wang Bin-Bin Su +5 位作者 Sheng-Shu Wang Guan-Chao Sun Kun-Ming Lv Yi Li Hui Shi Qian-Qian Chen 《World Journal of Gastroenterology》 SCIE CAS 2024年第8期855-862,共8页
BACKGROUND Reflux esophagitis has an increasing prevalence and complex and diverse symptoms.Identifying its risk factors is crucial to understanding the etiology,prevention,and management of the disease.The occurrence... BACKGROUND Reflux esophagitis has an increasing prevalence and complex and diverse symptoms.Identifying its risk factors is crucial to understanding the etiology,prevention,and management of the disease.The occurrence of reflux esophagitis may be associated with food reactions,Helicobacter pylori(H.pylori)infection,and metabolic syndromes.AIM To investigate the risk factors for reflux esophagitis and analyze the effects of immunoglobulin(Ig)G-mediated food intolerance,H.pylori infection,and metabolic syndrome on reflux esophagitis.METHODS Outpatients attending the Second Medical Center of the PLA General Hospital between 2017 and 2021 were retrospectively enrolled.The patients’basic information,test results,gastroscopy results,H.pylori test results,and IgG-mediated food intolerance results were collected.Multivariate logistic regression analysis was used to analyze risk factors for reflux esophagitis.Statistical mediation analysis was used to evaluate the effects of IgG-mediated food intolerance and metabolic syndrome on H.pylori infection affecting reflux esophagitis.RESULTS A total of 7954 outpatients were included;the prevalence of reflux esophagitis,IgG-mediated food intolerance,H.pylori infection,and metabolic syndrome were 20.84%,61.77%,35.91%,and 60.15%,respectively.Multivariate analysis showed that the independent risk factors for reflux esophagitis included IgG-mediated food intolerance(OR=1.688,95%CI:1.497-1.903,P<0.00001)and metabolic syndrome(OR=1.165,95%CI:1.030-1.317,P=0.01484),and the independent protective factor for reflux esophagitis was H.pylori infection(OR=0.400,95%CI:0.351-0.456,P<0.00001).IgG-mediated food intolerance had a partially positive mediating effect on H.pylori infection as it was associated with reduced occurrence of reflux esophagitis(P=0.0200).Metabolic syndrome had a partially negative mediating effect on H.pylori infection and reduced the occurrence of reflux esophagitis(P=0.0220).CONCLUSION Patients with IgG-mediated food intolerance and metabolic syndrome were at higher risk of developing reflux esophagitis,while patients with H.pylori infection were at lower risk.IgG-mediated food intolerance reduced the risk of reflux esophagitis pathogenesis in patients with H.pylori infection;however,metabolic syndrome increased the risk of patients with H.pylori infection developing reflux esophagitis. 展开更多
关键词 Gastroesophageal reflux ESOPHAGITIS Food intolerance Metabolic syndrome Helicobacter pylori CHEMOKINES
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Body composition and metabolic syndrome in patients with type 1 diabetes 被引量:2
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作者 Qiong Zeng Xiao-Jing Chen +3 位作者 Yi-Ting He Ze-Ming Ma Yi-Xi Wu Kun Lin 《World Journal of Diabetes》 SCIE 2024年第1期81-91,共11页
BACKGROUND In recent years,the prevalence of obesity and metabolic syndrome in type 1 diabetes(T1DM)patients has gradually increased.Insulin resistance in T1DM deserves attention.It is necessary to clarify the relatio... BACKGROUND In recent years,the prevalence of obesity and metabolic syndrome in type 1 diabetes(T1DM)patients has gradually increased.Insulin resistance in T1DM deserves attention.It is necessary to clarify the relationship between body composition,metabolic syndrome and insulin resistance in T1DM to guide clinical treatment and intervention.AIM To assess body composition(BC)in T1DM patients and evaluate the relationship between BC,metabolic syndrome(MS),and insulin resistance in these indi-viduals.METHODS A total of 101 subjects with T1DM,aged 10 years or older,and with a disease duration of over 1 year were included.Bioelectrical impedance analysis using the Tsinghua-Tongfang BC Analyzer BCA-1B was employed to measure various BC parameters.Clinical and laboratory data were collected,and insulin resistance was calculated using the estimated glucose disposal rate(eGDR).RESULTS MS was diagnosed in 16/101 patients(15.84%),overweight in 16/101 patients(15.84%),obesity in 4/101(3.96%),hypertension in 34/101(33.66%%)and dyslip-idemia in 16/101 patients(15.84%).Visceral fat index(VFI)and trunk fat mass were significantly and negatively correlated with eGDR(both P<0.001).Female patients exhibited higher body fat percentage and visceral fat ratio compared to male patients.Binary logistic regression analysis revealed that significant factors for MS included eGDR[P=0.017,odds ratio(OR)=0.109],VFI(P=0.030,OR=3.529),and a family history of diabetes(P=0.004,OR=0.228).Significant factors for hypertension included eGDR(P<0.001,OR=0.488)and skeletal muscle mass(P=0.003,OR=1.111).Significant factors for dyslipidemia included trunk fat mass(P=0.033,OR=1.202)and eGDR(P=0.037,OR=0.708).CONCLUSION Visceral fat was found to be a superior predictor of MS compared to conventional measures such as body mass index and waist-to-hip ratio in Chinese individuals with T1DM.BC analysis,specifically identifying visceral fat(trunk fat),may play an important role in identifying the increased risk of MS in non-obese patients with T1DM. 展开更多
关键词 Body composition Metabolic syndrome Insulin resistance Visceral fat Estimated glucose disposal rate
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Incidence and risk factors of depression in patients with metabolic syndrome 被引量:1
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作者 Li-Na Zhou Xian-Cang Ma Wei Wang 《World Journal of Psychiatry》 SCIE 2024年第2期245-254,共10页
BACKGROUND Many studies have explored the relationship between depression and metabolic syndrome(MetS),especially in older people.China has entered an aging society.However,there are still few studies on the elderly i... BACKGROUND Many studies have explored the relationship between depression and metabolic syndrome(MetS),especially in older people.China has entered an aging society.However,there are still few studies on the elderly in Chinese communities.AIM To investigate the incidence and risk factors of depression in MetS patients in China's Mainland and to construct a predictive model.METHODS Data from four waves of the China Health and Retirement Longitudinal Study were selected,and middle-aged and elderly patients with MetS(n=2533)were included based on the first wave.According to the center for epidemiological survey-depression scale(CESD),participants with MetS were divided into depression(n=938)and non-depression groups(n=1595),and factors related to depression were screened out.Subsequently,the 2-,4-,and 7-year follow-up data were analyzed,and a prediction model for depression in MetS patients was constructed.RESULTS The prevalence of depression in middle-aged and elderly patients with MetS was 37.02%.The prevalence of depression at the 2-,4-,and 7-year follow-up was 29.55%,34.53%,and 38.15%,respectively.The prediction model,constructed using baseline CESD and Physical Self-Maintenance Scale scores,average sleep duration,number of chronic diseases,age,and weight had a good predictive effect on the risk of depression in MetS patients at the 2-year follow-up(area under the curve=0.775,95%confidence interval:0.750-0.800,P<0.001),with a sensitivity of 68%and a specificity of 74%.CONCLUSION The prevalence of depression in middle-aged and elderly patients with MetS has increased over time.The early identification of and intervention for depressive symptoms requires greater attention in MetS patients. 展开更多
关键词 DEPRESSION Metabolic syndrome PREVALENCE Risk factor
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Immune cell signatures and causal association with irritable bowel syndrome:A mendelian randomization study 被引量:1
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作者 Wei-Hao Chai Yan Ma +3 位作者 Jia-Jia Li Fei Guo Yi-Zhan Wu Jiang-Wei Liu 《World Journal of Clinical Cases》 SCIE 2024年第17期3094-3104,共11页
BACKGROUND The mucosal barrier's immune-brain interactions,pivotal for neural development and function,are increasingly recognized for their potential causal and therapeutic relevance to irritable bowel syndrome(I... BACKGROUND The mucosal barrier's immune-brain interactions,pivotal for neural development and function,are increasingly recognized for their potential causal and therapeutic relevance to irritable bowel syndrome(IBS).Prior studies linking immune inflammation with IBS have been inconsistent.To further elucidate this relationship,we conducted a Mendelian randomization(MR)analysis of 731 immune cell markers to dissect the influence of various immune phenotypes on IBS.Our goal was to deepen our understanding of the disrupted brain-gut axis in IBS and to identify novel therapeutic targets.AIM To leverage publicly available data to perform MR analysis on 731 immune cell markers and explore their impact on IBS.We aimed to uncover immunophenotypic associations with IBS that could inform future drug development and therapeutic strategies.METHODS We performed a comprehensive two-sample MR analysis to evaluate the causal relationship between immune cell markers and IBS.By utilizing genetic data from public databases,we examined the causal associations between 731 immune cell markers,encompassing median fluorescence intensity,relative cell abundance,absolute cell count,and morphological parameters,with IBS susceptibility.Sensitivity analyses were conducted to validate our findings and address potential heterogeneity and pleiotropy.RESULTS Bidirectional false discovery rate correction indicated no significant influence of IBS on immunophenotypes.However,our analysis revealed a causal impact of IBS on 30 out of 731 immune phenotypes(P<0.05).Nine immune phenotypes demonstrated a protective effect against IBS[inverse variance weighting(IVW)<0.05,odd ratio(OR)<1],while 21 others were associated with an increased risk of IBS onset(IVW≥0.05,OR≥1).CONCLUSION Our findings underscore a substantial genetic correlation between immune cell phenotypes and IBS,providing valuable insights into the pathophysiology of the condition.These results pave the way for the development of more precise biomarkers and targeted therapies for IBS.Furthermore,this research enriches our comprehension of immune cell roles in IBS pathogenesis,offering a foundation for more effective,personalized treatment approaches.These advancements hold promise for improving IBS patient quality of life and reducing the disease burden on individuals and their families. 展开更多
关键词 Irritable bowel syndrome Immunophenotypes CAUSALITY Brain-gut axis Mendelian randomization Sensitivity analysis
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Causal role of immune cells in obstructive sleep apnea hypopnea syndrome:Mendelian randomization study 被引量:1
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作者 Huang-Hong Zhao Zhen Ma Dong-Sheng Guan 《World Journal of Clinical Cases》 SCIE 2024年第7期1227-1234,共8页
BACKGROUND Despite being one of the most prevalent sleep disorders,obstructive sleep apnea hypoventilation syndrome(OSAHS)has limited information on its immunologic foundation.The immunological underpinnings of certai... BACKGROUND Despite being one of the most prevalent sleep disorders,obstructive sleep apnea hypoventilation syndrome(OSAHS)has limited information on its immunologic foundation.The immunological underpinnings of certain major psychiatric diseases have been uncovered in recent years thanks to the extensive use of genome-wide association studies(GWAS)and genotyping techniques using highdensity genetic markers(e.g.,SNP or CNVs).But this tactic hasn't yet been applied to OSAHS.Using a Mendelian randomization analysis,we analyzed the causal link between immune cells and the illness in order to comprehend the immunological bases of OSAHS.AIM To investigate the immune cells'association with OSAHS via genetic methods,guiding future clinical research.METHODS A comprehensive two-sample mendelian randomization study was conducted to investigate the causal relationship between immune cell characteristics and OSAHS.Summary statistics for each immune cell feature were obtained from the GWAS catalog.Information on 731 immune cell properties,such as morphologic parameters,median fluorescence intensity,absolute cellular,and relative cellular,was compiled using publicly available genetic databases.The results'robustness,heterogeneity,and horizontal pleiotropy were confirmed using extensive sensitivity examination.RESULTS Following false discovery rate(FDR)correction,no statistically significant effect of OSAHS on immunophenotypes was observed.However,two lymphocyte subsets were found to have a significant association with the risk of OSAHS:Basophil%CD33dim HLA DR-CD66b-(OR=1.03,95%CI=1.01-1.03,P<0.001);CD38 on IgD+CD24-B cell(OR=1.04,95%CI=1.02-1.04,P=0.019).CONCLUSION This study shows a strong link between immune cells and OSAHS through a gene approach,thus offering direction for potential future medical research. 展开更多
关键词 Obstructive sleep apnea hypopnea syndrome IMMUNITY Causal inference MR analysis Sensitivity
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