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Primary localized gastric amyloidosis:A scoping review of the literature from clinical presentations to prognosis

World Journal of Gastroenterology 2021年第12期27卷 1132-1148页

作者： Xin-Yu Lin Dan Pan Li-Xuan Sang Bing Chang Department of Neurology The First Hospital of China Medical UniversityShenyang 110001Liaoning ProvinceChina Department of Geriatrics The First Affiliated Hospital of China Medical UniversityShenyang 110001Liaoning ProvinceChina Department of Gastroenterology The First Hospital of China Medical UniversityShenyang 110001Liaoning ProvinceChina

Localized gastric amyloidosis(LGA)is a rare disease characterized by abnormal extracellular deposition of amyloid protein restricted to the stomach and it is confirmed by positive results of Congo red *** decades,only a few cases have been reported and studies or research focusing on it are *** LGA has a low incidence,patients may suffer a lot from it and require proper diagnosis and ***,the pathology of LGA remains unknown and no overall review of LGA from its presentations to its prognosis has been *** with LGA are often asymptomatic or manifest atypical symptoms,making it difficult to differentiate from other gastrointestinal ***,we report the case of a 70-year-old woman with LGA and provide an overview of case reports of LGA available to *** on that,we conclude current concepts of clinical manifestations,diagnosis,treatment,and prognosis of LGA,aiming at providing a detailed diagnostic procedure for clinicians and promoting the guidelines of *** addition,a few advanced technologies applied in amyloidosis are also discussed in this review,aiming at providing clinicians with a reference of diagnostic *** this review,we hope to raise awareness of LGA among the public and clinicians.

关键词： Gastroscopy Changes of gastric mucosa Primary localized gastric amyloidosis clinical presentations Prognosis

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Recent Advances for Global Perspectives on Etiology, Pathophysiology, clinical presentations, and Management of Moyamoya Disease

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World Journal of Neuroscience 2024年第1期14卷 6-23页

作者： Maiko Charles Mkwambe Dongchi Zhao Youping Deng Department of Pediatrics Zhongnan Hospital of Wuhan University Wuhan China

Moyamoya disease (MMD) is a condition characterized by the gradual narrowing and blockage of blood vessels in the brain, specifically those in the circle of Willis and the arteries that supply it. This results in reduced blood flow and oxygen to the brain, leading to progressive symptoms and potential complications. The underlying pathophysiological mechanism remains elucidated. However, recent studies have highlighted numerous etiologic factors: abnormal immune complex responses, susceptibility genes, branched-chain amino acids, antibodies, heritable diseases, and acquired diseases, which may be the great potential triggers for the development of moyamoya disease. Its clinical presentation has varying degrees from transient asymptomatic events to significant neurological deficits. Moyamoya disease (MMD) shows different patterns in children and adults. Children with MMD are more susceptible to ischemic events due to decreased blood flow to the brain. Conversely, adults with MMD are more prone to hemorrhagic events involving brain bleeding. Children with MMD may experience a range of symptoms including motor impairments, sensory issues, seizures, headaches, dizziness, cognitive delays, or ongoing neurological problems. Although adults may present with similar clinical symptoms as children, they are more prone to experiencing sudden onset intraventricular, subarachnoid, or intracerebral hemorrhages. One of the challenges in moyamoya disease is the potential for misdiagnosis or delayed diagnosis, particularly when physicians fail to consider MMD as a possible cause in stroke patients. This review aims to provide a comprehensive overview of recent global studies on the pathophysiology of MMD, along with advancements in its management. Additionally, the review will delve into various surgical treatment options for MMD, as well as its rare occurrence alongside atrioventricular malformations. Exciting prospects include the use of autologous bone marrow transplant and the p

关键词： Moyamoya Disease (MMD) Etiology Pathophysiology clinical presentations Management Future Promising Avenues

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Endomysial antibodies predict celiac disease irrespective of the titers or clinical presentation

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World Journal of Gastroenterology 2012年第20期18卷 2511-2516页

作者： Kalle Kurppa Tiia Rsnen Pekka Collin Sari Iltanen Heini Huhtala Merja Ashorn Pivi Saavalainen Katri Haimila Jukka Partanen Markku Mki Katri Kaukinen Pediatric Research Centre University of Tampere and Tampere University HospitalFin-33014Tampere Finland Department of Gastroenterology and Alimentary Tract Surgery Tampere University Hospital and School of MedicineUniversity of TampereFin-33014 TampereFinland Tampere School of Public Health University of TampereFin-33014TampereFinland Department of Medical Genetics and Research Program for Molecular Medicine University of Helsinki Fin-00014HelsinkiFinland Research and Development Finnish Red Cross Blood ServiceFin-00310HelsinkiFinland

AIM:To investigate the association between serum antibody levels and a subsequent celiac disease diag-nosis in a large series of children and adults. METHODS:Besides subjects with classical gastrointestinal presentation of celiac disease,the study cohort included a substantial number of individuals with extraintestinal symptoms and those found by screening in at-risk *** 405 patients underwent clinical,serological and histological *** collection of data,the antibody values were further graded as low[endomysial(EmA)1:5-200,transglutaminase 2 antibodies(TG2-ab)5.0-30.0 U/L]and high (EmA 1:≥500,TG2-ab≥30.0 U/L),and the serological results were compared with the small intestinal mucosal histology and clinical presentation. RESULTS:In total,79%of the subjects with low and 94%of those with high serum EmA titers showed small-bowel mucosal villous ***, 96%of the 47 EmA positive subjects who had normal mucosal villi and remained on follow-up either subsequently developed mucosal atrophy while on a glutencontaining diet,or responded positively to a glutenfree diet. CONCLUSION:Irrespective of the initial serum titers or clinical presentation,EmA positivity as such is a very strong predictor of a subsequent celiac disease diagnosis.

关键词： Celiac disease Diagnosis Endomysial antibodies Transglutaminase 2 antibodies clinical presentations

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clinical analysis of Wernicke encephalopathy after liver transplantation

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Hepatobiliary & Pancreatic Diseases International 2023年第4期22卷 352-357页

作者： Li-Min Ding Li-Shan Deng Jun-Jie Qian Gang Liu Lin Zhou Shu-Sen Zheng Division of Hepatobiliary Pancreatic Surgery the First Affiliated HospitalZhejiang University School of MedicineHangzhou 310003China NHFPC Key Laboratory of Combined Multi-organ Transplantation Hangzhou 310003China Key Laboratory of the Diagnosis and Treatment of Organ Transplantation Chinese Academy of Medical SciencesHangzhou 310003China Key Laboratory of Organ Transplantation Research Center for Diagnosis and Treatment of Hepatobiliary DiseasesHangzhou 310003China Culture and Sports Center for the Disabled of Jiangxi Province Nanchang 330000China Department of Transplantation Jiangxi Provincial People’s HospitalNanchang 330000China Collaborative Innovation Center for Diagnosis Treatment of Infectious Diseases Hangzhou 310003China

Background:Wernicke encephalopathy(WE)is an acute neurological disease resulting from vitamin B1 deficiency,and there are only very few case reports of WE after liver *** present study aimed to investigate the clinical characteristics,etiology,magnetic resonance imaging(MRI)features,treatment and prognosis of patients with WE after liver ***:Twenty-three patients with WE after liver transplantation from the First Affiliated Hospital,Zhejiang University School of Medicine and Jiangxi Provincial People’s Hospital between January 2011 and December 2021 were retrospectively ***:Among the 23 patients diagnosed with WE after liver transplantation,6(26%)had a classic triad of impaired consciousness,oculomotor palsy and ataxia,and 17(74%)had two *** misdiagno-sis rate was 65%.After treatment with high-dose vitamin B1,19(83%)patients showed improvement,whereas 4(17%)showed no improvement,including 3 with residual short-term memory impairments and 1 with residual spatial and temporal disorientation and ***:The misdiagnosis rate is high in the early stage of WE,and the prognosis is closely asso-ciated with whether WE is diagnosed early and treated ***-dose glucose or glucocorticoids can trigger WE and cannot be administered before vitamin B1 *** B1 is suggested to be used as a prophylactic treatment for patients with WE after liver transplantation.

关键词： Liver transplantation Wernicke encephalopathy Vitamin B1 clinical presentations Imaging features Diagnosis Treatment Prognosis

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Ocular manifestations of intracranial germinomas： three cases report and literature review

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Chinese Medical Journal 2012年第15期125卷 2790-2793页

作者： HUANG Wen-bin ZHANG Xiu-lan WANG Wei DAI Yan-li QIU Huai-yu WEI Shi-hui Zhongshan Ophthalmic Center State Key Laboratory ofOphthalmology Sun Yat-sen University Guangzhou Guangdong510060 China Department of Ophthalmology - General Hospital of ChinesePeople's Liberation Army Beijing 100853 China

Intracranial germinomas are malignant neoplasms of gonadal origin, which have some features in terms of age, sex, and clinical manifestations. They mainly occur in children and adolescents. Patients with intracranial germinomas mainly manifest with hypothalamic pituitary axis dysfunction and/or compression syndromes. Visual disturbance is one of the most Significant clinical presentations, which is mainly caused by tumor cell infiltration into the optic pathway. In this article, we present three cases of patient with intracranial germinoma to analyze the ocular manifestations. All the three patients presented with endocrine symptoms in the early stage and with visual disturbances （including decreased visual acuity and visual field defects） later. In general, germinoma is diagnosed by its characteristic radiological appearance, supported by tumor markers and/or stereotactic biopsy. However, decisive diagnoses were established when ocular manifestations were presented. A suspicion for germinoma should be considered, when young patients manifest visual disturbances accompanied by endocrine symptoms.

关键词： intracranial germinomas ocular manifestations clinical presentations diagnostic features

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