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To include the title of the paper, name of the author, institution (affiliation), city.
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《Chinese Journal of Oceanology and Limnology》 SCIE CAS CSCD 1996年第2期193-193,共1页
To be placed on the lower Part of title title Page,or on a separate Page,It should be no loflger than 5% of the article.
关键词 CITY affiliation name of the author To include the title of the paper INSTITUTION
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To include the title of the paper, name of the author, institution (affiliation), city.
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《Chinese Journal of Oceanology and Limnology》 SCIE CAS CSCD 1996年第1期97-97,共1页
To be placed on the lower part of the title page, or on a separate pageIt should be no longer than 5% of the article.
关键词 CITY affiliation To include the title of the paper name of the author INSTITUTION
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To include the title of the paper, name of the author,institution(affiliation),city.
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《Chinese Journal of Oceanology and Limnology》 SCIE CAS CSCD 1995年第3期291-291,共1页
To be placed on the lower part of the title page, or on a separate page,It should be no longer than 5% of the article.
关键词 name of the author institution CITY To include the title of the paper
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Pancreatic ductal adenocarcinoma associated with pancreatic ductal intraepithelial neoplasia(The Author reply)
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作者 Anil K Agarwal 《Hepatobiliary & Pancreatic Diseases International》 SCIE CAS 2008年第2期221-221,共1页
The Editor welcomes submissions for possible publication in the Letters to the Editor section that consist of commentary on an article published in the Journal or other relevant issues.
关键词 the author reply Pancreatic ductal adenocarcinoma associated with pancreatic ductal intraepithelial neoplasia
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The Author Reply
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作者 Ayman El Nakeeb 《Hepatobiliary & Pancreatic Diseases International》 SCIE CAS CSCD 2016年第6期666-666,共1页
We thank the authors for their commentary on our paper. Pancreaticoduodenectomy can be performed safely in selected elderly patients. Advanced age alone should not be a contraindication to do pancreaticoduodenectomy. ... We thank the authors for their commentary on our paper. Pancreaticoduodenectomy can be performed safely in selected elderly patients. Advanced age alone should not be a contraindication to do pancreaticoduodenectomy. Careful patient selection is the cornerstone to improve the outcome of pancreaticoduodenectomy in elderly. 展开更多
关键词 the author Reply
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The Author Reply
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作者 Vui Heng Chong Anand Jalihal 《Hepatobiliary & Pancreatic Diseases International》 SCIE CAS 2011年第1期107-108,共2页
We thank Dr.Uradomo et al for their interest in our recent publication on biliary interventions during pregnancy and value their views on one of the latest innovation for biliary interventions without radiation exposu... We thank Dr.Uradomo et al for their interest in our recent publication on biliary interventions during pregnancy and value their views on one of the latest innovation for biliary interventions without radiation exposure. [1] We fully agree with their comments that such technologies should be evaluated and adopted into clinical practice.However,in any interventions including those carried out during pregnancy,several principles should be adhered to. 展开更多
关键词 the author Reply
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God is the Ultimate Jokester--Barthes’s Dead Author and the Authorless Joke
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作者 Zheng Fang 《Journal of Linguistics and Education Research》 2020年第1期25-29,共5页
This study starts fromŽižek Slavoj's question about the attribution of the joke text,by borrowing Roland Barthes's theory of“the Death of the Author”in the structuralist discussion,the author's absence a... This study starts fromŽižek Slavoj's question about the attribution of the joke text,by borrowing Roland Barthes's theory of“the Death of the Author”in the structuralist discussion,the author's absence and the origin of the“joke”as a literary genre are analyzed.At the same time,the discussion employed the“joke”as a special genre,explained Barthes’s way of dethroning the author,as well as the way in which the reader is crowed authority to interpret the text.And through the author,the reader and the function of language,Barthes’s theory of author was enlightened,with a new perspective to re-interpret the basic concept of the author in literary criticism. 展开更多
关键词 JOKE authorship STRUCTURALISM the Death of the author
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Photo-activated microtubule targeting drugs: Advancing therapies for colorectal cancer
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作者 Naresh Singh Samantha Sharma 《World Journal of Gastroenterology》 SCIE CAS 2024年第26期3257-3260,共4页
Over the years immunotherapy has demonstrably improved the field of cancer treatment.However,achieving long-term survival for colorectal cancer(CRC)patients remains a significant unmet need.Combination immunotherapies... Over the years immunotherapy has demonstrably improved the field of cancer treatment.However,achieving long-term survival for colorectal cancer(CRC)patients remains a significant unmet need.Combination immunotherapies incor-porating targeted drugs like MEK or multi-kinase inhibitors have offered some palliative benefit.Nevertheless,substantial gaps remain in the current therapeutic armamentarium for CRC.In recent years,there has been a surge of interest in exploring novel treatment strategies,including the application of light-activated drugs in conjunction with optical devices.This approach holds promise for achie-ving localized and targeted delivery of cytotoxic agents,such as microtubule-targeting drugs,directly to cancerous cells within the colon. 展开更多
关键词 Colorectal cancer therapy MICROTUBULE Photo pharmacology Immuno-therapies©the author(s)2024.Published by Baishideng Publishing Group Inc.All rights reserved.
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Two-stage revision in periprosthetic knee joint infections 被引量:1
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作者 Majd M Alrayes Mohamed Sukeik 《World Journal of Orthopedics》 2023年第3期113-122,共10页
Periprosthetic joint infection(PJI)following total knee arthroplasty is one of the most catastrophic and costly complications that carries significant patient wellness as well as economic burdens.The road to efficient... Periprosthetic joint infection(PJI)following total knee arthroplasty is one of the most catastrophic and costly complications that carries significant patient wellness as well as economic burdens.The road to efficiently diagnosing and treating PJI is challenging,as there is still no gold standard method to reach the diagnosis as early as desired.There are also international controversies with respect to the best approach to manage PJI cases.In this review,we highlight recent advances in managing PJI following knee arthroplasty surgery and discuss in depth the two-stage revision method. 展开更多
关键词 Periprosthetic joint infection Knee arthroplasty Two-stage revision SPACER Reimplantation©the author(s)2023.Published by Baishideng Publishing Group Inc.All rights reserved.
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Inflammatory pseudotumors in the liver associated with influenza:A case report
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作者 Ankoor Patel Alexander Chen Alexander T Lalos 《World Journal of Hepatology》 2023年第10期1164-1169,共6页
BACKGROUND Inflammatory pseudotumor(IPT)is a rare and benign lesion that mimics malignancy and can develop in any part of the body.The pathophysiology and etiology of these quasineoplastic lesions remain unclear.CASE ... BACKGROUND Inflammatory pseudotumor(IPT)is a rare and benign lesion that mimics malignancy and can develop in any part of the body.The pathophysiology and etiology of these quasineoplastic lesions remain unclear.CASE SUMMARY We report a case of a 65-year-old male who presented with fevers,night sweats,and unintentional weight loss following an influenza infection and was found to have multiple hepatic IPT’s following an extensive work up.CONCLUSION Our case highlights the importance of considering hepatic IPT’s in the differential in a patient who presents with symptoms and imaging findings mimicking malignancy shortly following a viral infection. 展开更多
关键词 Inflammatory pseudotumor INFLUENZA MALIGNANCY Liver mass Case report©the author(s)2023.Published by Baishideng Publishing Group Inc.All rights reserved.
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Advantageous tactics with certain probiotics for the treatment of graft-versus-host-disease after hematopoietic stem cell transplantation
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作者 Sayuri Yoshikawa Kurumi Taniguchi +3 位作者 Haruka Sawamura Yuka Ikeda Ai Tsuji Satoru Matsuda 《World Journal of Hematology》 2023年第2期15-24,共10页
Hematopoietic stem cell transplantation(HSCT)becomes a standard form of cellular therapy for patients with malignant diseases.HSCT is the first-choice of immunotherapy,although HSCT can be associated with many complic... Hematopoietic stem cell transplantation(HSCT)becomes a standard form of cellular therapy for patients with malignant diseases.HSCT is the first-choice of immunotherapy,although HSCT can be associated with many complications such as graft-versus-host disease(GVHD)which is a major cause of morbidity and mortality after allogeneic HSCT.It has been shown that certain gut microbiota could exert protective and/or regenerative immunomodulatory effects by the production of short-chain fatty acids(SCFAs)such as butyrate in the experimental models of GVHD after allogeneic HSCT.Loss of gut commensal bacteria which can produce SCFAs may worsen dysbiosis,increasing the risk of GVHD.Expression of G-protein coupled receptors such as GPR41 seems to be upre-gulated in the presence of commensal bacteria,which might be associated with the biology of regulatory T cells(Tregs).Treg cells are a suppressive subset of CD4 positive T lymphocytes implicated in the prevention of GVHD after allogeneic HSCT.Here,we discuss the current findings of the relationship between the modification of gut microbiota and the GVHD-related immunity,which suggested that tactics with certain probiotics for the beneficial symbiosis in gut-immune axis might lead to the elevation of safety in the allogeneic HSCT. 展开更多
关键词 Gut microbiota Hematopoietic stem cell Reactive oxygen species Allogeneic hematopoietic stem cell transplantation Graft vs host disease Gut-immune axis©the author(s)2023.Published by Baishideng Publishing Group Inc.All rights reserved.
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Comprehensive effects of traditional Chinese medicine treatment on heart failure and changes in B-type natriuretic peptide levels: A meta-analysis
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作者 Li-Li Xia Shu-Yun Yang +2 位作者 Jun-Yao Xu Han-Qing Chen Zhu-Yuan Fang 《World Journal of Clinical Cases》 SCIE 2024年第4期766-776,共11页
BACKGROUND Heart failure(HF),a common cardiovascular condition,is characterized by significant morbidity and mortality.While traditional Chinese medicine(TCM)is often used as a complementary approach in HF management,... BACKGROUND Heart failure(HF),a common cardiovascular condition,is characterized by significant morbidity and mortality.While traditional Chinese medicine(TCM)is often used as a complementary approach in HF management,systematic evalua-tions of its impact on clinical outcomes,TCM syndrome scores,and B-type natriuretic peptide(BNP)levels are lacking.This study fills this gap through a comprehensive analysis of randomized controlled trials(RCTs)focusing on TCM for HF treatment.It encompasses an assessment of methodological quality,a meta-analysis,and an evaluation of evidence quality based on established standards.The results offer crucial insights into the potential advantages and constraints of TCM in HF management.RCTs on TCM for HF treatment published since the establishment of the database were searched in four Chinese and English databases,including China National Knowledge Infrastructure,Wanfang,VIP Information Chinese Science and Technology Journal,and PubMed.Methodological quality was assessed for the included studies with the Cochrane risk-of-bias assessment tool,and the meta-analysis and publication bias assessment was performed with the RevMan5.3 software.Finally,the quality of evidence was rated according to the GRADE criteria.RESULTS A total of 1098 RCTs were initially retrieved.After screening,16 RCTs were finally included in our study,which were published between 2020 and 2023.These RCTs involved 1660 HF patients,including 832 in the TCM group[TCM combined with conventional Western medicine(CMW)treatment]and 828 in the CWM group(CWM treatment).The course of treatments varied from 1 wk to 3 months.TCM syndrome differentiation was analyzed in 11 of the included RCTs.In all included RCTs,outcome indicators included comprehensive clinical outcomes,TCM syndrome scores,and BNP levels.The meta-analysis results showed significant differences between the TCM and CWM groups in terms of comprehensive clinical outcomes[risk ratio=-0.54;95%confidence interval(CI)=-0.61,-0.47;P<0.00001],TCM syndrome scores[weighted mean difference(WMD)=-142.07;95%CI=-147.56,-136.57;P<0.00001],and BNP levels(WMD=-142.07;95%CI=-147.56,-136.57;P<0.00001).According to the GRADE criteria,RCTs where"TCM improves clinical comprehensive outcomes"were rated as low-quality evidence,and RCTs where"TCM reduces TCM syndrome scores"or"TCM decreases BNP levels"were rated as medium-quality evidence.CONCLUSION TCM combined with CWM treatment effectively improves comprehensive clinical outcomes and diminishes TCM syndrome scores and BNP levels in HF patients.Given the low and medium quality of the included RCTs,the application of these results should be cautious. 展开更多
关键词 Traditional Chinese medicine Heart failure Comprehensive clinical outcomes Traditional Chinese medicine syndrome score B-type natriuretic peptide level Meta-analysis©the author(s)2024.Published by Baishideng Publishing Group Inc.
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An Investigation into the Case of Multi-interpretation in Poetry Translation
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作者 涂湘莹 《英语广场(学术研究)》 2017年第5期12-15,共4页
In translating poems, it is very common that different people have quite different versions of the same poem. This paper therefore intends to expound upon the underlying factors from the perspective of Hermeneutics,by... In translating poems, it is very common that different people have quite different versions of the same poem. This paper therefore intends to expound upon the underlying factors from the perspective of Hermeneutics,by exploring the relationship between the textual meaning and the textual significance of a poem, as well as the relationship between the author's intention and the textual intention of a poem, aiming to explain the key element in translating poems—multi-interpretation. 展开更多
关键词 poetry translation HERMENEUTICS textual meaning and significance the author’s intention the textual intention
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Percutaneous transhepatic access for catheter ablation of a patient with heterotaxy syndrome complicated with atrial fibrillation:A case report 被引量:1
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作者 Hai-Xiong Wang Na Li +1 位作者 Jian An Xue-Bin Han 《World Journal of Clinical Cases》 SCIE 2022年第20期7006-7012,共7页
BACKGROUND Atrial fibrillation(AF)is one of the most common arrhythmias,and radiofrequency catheter ablation is the most effective treatment strategy.The inferior vena cava(IVC)is a common approach for radiofrequency ... BACKGROUND Atrial fibrillation(AF)is one of the most common arrhythmias,and radiofrequency catheter ablation is the most effective treatment strategy.The inferior vena cava(IVC)is a common approach for radiofrequency ablation of AF.However,this approach may not be applied to some cases such as chronic venous occlusions,surgical ligation of the IVC,and heterotaxy syndrome(HS).CASE SUMMARY A 68-year-old man with HS suffered from severely symptomatic persistent AF for 9 years,and we successfully ablated by percutaneous transhepatic access.CONCLUSION In patients without femoral vein access,the use of the hepatic vein for pulmonary vein isolation is a viable alternative for invasive electrophysiology procedures. 展开更多
关键词 Transhepatic access Catheter ablation Atrial fibrillation Case report©the author(s)2022.Published by Baishideng Publishing Group Inc.All rights reserved.
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Non-alcoholic fatty liver disease:Is surgery the best current option and can novel endoscopy play a role in the future?
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作者 Mandour Omer Mandour Mohammed El-Hassan +1 位作者 Rawan M Elkomi Jude A Oben 《World Journal of Hepatology》 2022年第9期1704-1717,共14页
alcohol as the leading cause of cirrhosis in the Western world.There remains to be a licensed pharmacological treatment for NAFLD.Weight loss is advised for all patients with NAFLD.Many patients however,struggle to lo... alcohol as the leading cause of cirrhosis in the Western world.There remains to be a licensed pharmacological treatment for NAFLD.Weight loss is advised for all patients with NAFLD.Many patients however,struggle to lose the recommended weight with lifestyle modification alone.Many drugs have either failed to show significant improvement of steatosis or are poorly tolerated.Bariatric surgery has been shown to reduce liver steatosis and regress liver fibrosis.The pathophysiology is not fully understood,however recent evidence has pointed towards changes in the gut microbiome following surgery.Novel endoscopic treatment options provide a minimally invasive alternative for weight loss.Randomised controlled trials are now required for further clarification. 展开更多
关键词 Obesity Metabolic associated fatty liver disease Non-alcoholic fatty liver disease Non-alcoholic steatohepatitis Bariatric endoscopy Bariatric surgery©the author(s)2022.Published by Baishideng Publishing Group Inc.All rights reserved
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Can we suppress excessive post-surgical scar formation:A case report 被引量:1
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作者 Mir Sadat-Ali Sulaiman A Al-Mousa +2 位作者 Khalid Waleed Al-Tabash Mohamed M Abotaleb Fawaz M Al-Anii 《World Journal of Orthopedics》 2023年第3期166-170,共5页
BACKGROUND Hypertrophic scars(HSs)formation is a complication that occurs after wounds heal with secondary intention and sometimes after clean surgical incisions.Many treatments are in vogue now with varying successes... BACKGROUND Hypertrophic scars(HSs)formation is a complication that occurs after wounds heal with secondary intention and sometimes after clean surgical incisions.Many treatments are in vogue now with varying successes.Although the mechanism or mechanisms that cause a HS to form are not clearly understood,one thing that is clear is that once scar tissue matures,any intervention will not be successful.In this paper,we report on a case where a patient who was known to develop HS was treated with a new combination of ingredients(Phyto-chemicals+Silicone JUMI)to suppress HS formation.CASE SUMMARY A 68-year-old female of African descent presented a severe HS post total knee replacement(TKR),which the patient describes as itchy and painful.Due to complications caused by the scar,she was apprehensive about undergoing TKR on her other knee.However,after the TKR of the contralateral side post-removal of skin clips,JUMI anti-scar cream(JASC)was used to suppress excessive scar formation.CONCLUSION JASC appears potent and efficacious at suppressing excessive scar formation.We believe that this warrants further studies on larger patient groups and on different surgical sites. 展开更多
关键词 Hypertrophic scars Photo-chemicals JUMI KELOID Case report©the author(s)2023.Published by Baishideng Publishing Group Inc.All rights reserved.
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Unusual breast metastasis of gastrointestinal stromal tumor:A case report and literature review
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作者 Daria Filonenko Nikolay Karnaukhov +1 位作者 Gurami Kvetenadze Lyudmila Zhukova 《World Journal of Clinical Oncology》 CAS 2023年第3期131-137,共7页
BACKGROUND Gastrointestinal stromal tumors(GISTs)are the most frequent mesenchymal tumors of gastrointestinal tract.The most common sites of metastases are the liver and the peritoneum,whereas breast metastases from G... BACKGROUND Gastrointestinal stromal tumors(GISTs)are the most frequent mesenchymal tumors of gastrointestinal tract.The most common sites of metastases are the liver and the peritoneum,whereas breast metastases from GIST are extremely rare.We present a second case of GIST breast metastasis.CASE SUMMARY We found a case of breast metastasis from rectum GIST.A 55-year-old female patient presented with rectum tumor with multiply liver lesions and metastasis in the right breast.Abdominal-perineal extirpation of rectum was performed,histology and immunohistochemistry study showed GIST,mixed type with CD117 and DOG-1 positive staining.The patient was taking imatinib 400 mg for 22 mo with stable disease.Because of growth of the breast metastasis the treatment was changed twice:The dose of imatinib was doubled with further progression in the breast lesion and then the patient was receiving sunitinib for 26 mo with partial response in the right breast and stable disease in the liver lesions.The breast lesion increased and right breast resection was done–surgery on local progression,the liver metastases were stable.Histology and immunohistochemistry studies revealed GIST metastasis,CD 117 and DOG 1 positive with KIT exon 11 mutation.After surgery the patient resumed imatinib.Until now the patient has been taking imatinib 400 mg for 19 mo without progression,last follow up was in November 2022.CONCLUSION GISTs breast metastases are extremely rare,we described the second case.At the same time second primary tumors have been reported frequently in patients diagnosed with GISTs and breast cancer is one of the most common second primary tumors in patients with GISTs.That is why it is very important to distinguish primary from metastatic breast lesions.Surgery on local progression made it possible to resume less toxic treatment. 展开更多
关键词 Gastrointestinal stromal tumors METASTASES Breast Limited progression Case report©the author(s)2023.Published by Baishideng Publishing Group Inc.All rights reserved.
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Prenatal radiographic evaluation of congenital transverse limb deficiencies:A scoping review
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作者 Neeraj Vij Luis F Goncalves +2 位作者 Aaron Llanes Sean Youn Mohan V Belthur 《World Journal of Orthopedics》 2023年第3期155-165,共11页
BACKGROUND Congenital transverse deficiencies are horizontal deficiencies of the long bones that occur with a reported incidence as high 0.38%.They can occur alone or represent a manifestation of a various clinical sy... BACKGROUND Congenital transverse deficiencies are horizontal deficiencies of the long bones that occur with a reported incidence as high 0.38%.They can occur alone or represent a manifestation of a various clinical syndromes.Diagnosis has tradi-tionally comprised of conventional radiography and prenatal imaging studies.There has been much advancement regarding prenatal imaging modalities to allow for early diagnosis and appropriate treatment.AIM To summarize the current state of knowledge on congenital transverse limb deficiencies and to provide an update regarding the radiographic evaluation of congenital transverse limb deficiencies.METHODS This IRB-exempt scoping review followed the PRISMA-ScR checklist for scoping reviews strictly.Five search engines were searched for a total of 265 publications.Four authors reviewed these during the screening process.Of these,51 studies were included in our article.Prenatal magnetic resonance imaging(MRI),3D Ultrasound,and multidetector Computed tomography(CT)exist are emerging modalities that have the potential to improve diagnosis.RESULTS Use of the appropriate classification system,three-dimensional ultrasonography with a maximum intensity projection,and appropriate use of prenatal MRI and prenatal CT can improve diagnosis and inter-provider communication.CONCLUSION Further scholarly efforts are required to develop improve standardized guidelines regarding the pre-natal radiographic evaluation of congenital limb deficiencies. 展开更多
关键词 Terminal deficiencies Roentgenographic evaluation Pediatric skeletal deficiencies Early diagnosis Patient-centered care Prenatal imaging©the author(s)2023.Published by Baishideng Publishing Group Inc.All rights reserved.
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Melatonin’s actions are not limited to sleep
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作者 Evangelia Venaki Eftychia Koukkou Ioannis Ilias 《World Journal of Experimental Medicine》 2023年第2期4-6,共3页
Melatonin is widely available as a supplement,usually for sleep disorders.The consumption of melatonin supplements has increased considerably in recent years.An overlooked aspect of melatonin’s administration is the ... Melatonin is widely available as a supplement,usually for sleep disorders.The consumption of melatonin supplements has increased considerably in recent years.An overlooked aspect of melatonin’s administration is the resulting increase in prolactin secretion,via its action on hypothalamic dopaminergic neurons.We believe that since the effect of melatonin on prolactin is tangible,the laboratory finding of hyperprolactinemia could be encountered more often,given the increase in melatonin’s use.This is an issue that merits further study. 展开更多
关键词 MELATONIN SLEEP PROLACTIN Human Dopamine Side-effects©the author(s)2023.Published by Baishideng Publishing Group Inc.All rights reserved.
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IFIH1 and DDX58 gene variants in pediatric rheumatic diseases
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作者 Rinat Raupov Evgeny Suspitsin +2 位作者 Konstantin Belozerov Tatiana Gabrusskaya Mikhail Kostik 《World Journal of Clinical Pediatrics》 2023年第3期107-114,共8页
BACKGROUND The IFIH1 gene codes the MDA5 protein and the DDX58 gene codes the RIG-I receptor.Both proteins are parts of the interferon(IFN)I signaling pathway and are responsible for antiviral defense and innate immun... BACKGROUND The IFIH1 gene codes the MDA5 protein and the DDX58 gene codes the RIG-I receptor.Both proteins are parts of the interferon(IFN)I signaling pathway and are responsible for antiviral defense and innate immune response.IFIH1 and DDX58 polymorphisms are associated with a spectrum of autoimmune diseases.Rare gain-of-function IFIH1 mutations have been found in Singleton-Merten and Aicardi-Goutières syndrome,while DDX58 mutation can cause atypical Singleton-Merten syndrome.AIM To characterize children with pediatric rheumatic diseases(PRD)carrying DDX58 or IFIH1 variants.METHODS Clinical exome sequencing was performed on 92 children with different PRD.IFIH1 and DDX58 variants have been detected in 14 children.IFN-I score has been analyzed and the clinical characteristics of patients have been studied.RESULTS A total of seven patients with systemic lupus erythematosus(SLE)(n=2),myelodysplastic syndrome with SLE features at the onset of the disease(n=1),mixed connective tissue disease(MCTD)(n=1),undifferentiated systemic autoinflammatory disease(uSAID)(n=3)have 5 different variants of the DDX58 gene.A common non-pathogenic variant p.D580E has been found in five children.A rare variant of uncertain significance(VUS)p.N354S was found in one patient with uSAID,a rare likely non-pathogenic variant p.E37K in one patient with uSAID,and a rare likely pathogenic variant p.Cys864fs in a patient with SLE.Elevated IFN-I score was detected in 6 of 7 patients with DDX58 variants.Seven patients had six different IFIH1 variants.They were presented with uSAID(n=2),juvenile dermatomyositis(JDM)(n=1),SLElike disease(n=1),Periodic fever with aphthous stomatitis,pharyngitis,and adenitis syndrome(n=1),and systemic onset juvenile idiopathic arthritis(n=1).Three patients have VUS p.E627X,one patient has benign variant p.I923V.Rare VUS p.R595H was detected in the JDM patient.Another rare VUS p.L679Ifs*2 and previously not reported variant p.V599Ffs*5 were detected in the patient with uSAID.One patient with uSAID has rare VUS p.T520A.All patients had elevated IFN-I scores.CONCLUSION Rare compound-heterozygous IFIH1 variant(p.L679Ifs*2 and p.V599Ffs*5),heterozygous IFIH1 variant(p.T520A)and heterozygous DDX58 variant(p.Cys864fs)are probably disease causative for uSAID and SLE.The majority of patients with different DDX58 and IFI1 variants had hyperactivation of the IFN I signaling pathway. 展开更多
关键词 IFIH1 DDX58 Undifferentiated systemic autoinflammatory disease Systemic lupus erythematosus Interferon-I score©the author(s)2023.Published by Baishideng
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