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Investigation of corneal topographic and densitometric properties of wilson's disease patients with or without a Kayser-Fleischer ring

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Eye and Vision 2021年第2期8卷 67-74页

作者： Mehmet Fuat Alakus Mehtap Caglayan Nazım Ekin Hasan Oncul Esref Arac Umut Dag Halit Diri Department of Ophthalmology University of Health SciencesDiyarbakir Gazi Yasargil Research and Training HospitalDiyarbakırTurkey Department of Internal Medicine University of Health SciencesDiyarbakir Gazi Yasargil Research and Training HospitalDiyarbakırTurkey

Background:To investigate the topographic measurements and densitometry of corneas in wilson’s disease(WD)patients with or without a Kayser-Fleischer ring(KF-r)compared to healthy ***:This cross-sectional study included 20 WD patients without a KF-r(group I),18 WD patients with a KF-r(group II),and 20 age-matched controls(group III).The Pentacam high resolution imaging system is used to determine corneal topographic measurements and ***:Mean age for groups I,II and III was 25.40±6.43 years(14-36 years),25.38±6.96 years(16-39 years),23.60±6.56 years(17-35 years),respectively(P=0.623).There was no significant difference between the groups in terms of the anterior corneal densitometry values(P>0.05),while the 6-10mm and 10-12 mm mid stroma and the 2-6 mm,6-10 mm,and 10-12 mm posterior corneal densitometry values in group II were significantly higher than those in groups I and III(for all values,P<0.05).However,the 10-12mm posterior corneal densitometry values in group I were also significantly higher than those in group III(P=0.038).The central corneal thickness(CCT),thinnest corneal thickness(tCT),and corneal volume(CV)values in groups I and II were significantly lower than those in group III(for CCT values,P=0.011 and P=0.009;for tCT values,P=0.010 and P=0.005;for CV values,P=0.043 and P=0.029).Conclusion:In WD patients with a KF-r,corneal transparency decreased in the peripheral posterior and mid stromal corneal layers;for these patients,corneal transparency may be impaired not only in the peripheral cornea but also in the paracentral cornea.

关键词： wilson Kayser-Fleischer ring Corneal densitometry

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wilson disease associated with immune thrombocytopenia: A case report and review of the literature

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World Journal of Clinical Cases 2019年第17期7卷 2630-2636页

作者： Tian-Jiao Ma Gui-Lian Sun Fang Yao Zhi-Liang Yang Department of Pediatrics The First Hospital of China Medical University

BACKGROUND wilson disease (WD) is a genetic disorder of hepatic copper excretion,leading to copper accumulation in various *** manifestations are quite variable,and hemolytic anemia is the most common hematological *** associated with thrombocytopenia is very *** SUMMARY We report the case of an 11-year-old Chinese girl with WD that was associated with immune thrombocytopenia (ITP).Thrombocytopenia was the initial chief complaint for her to visit a hematologist,and ITP was diagnosed based on the results of a bone marrow biopsy and positive antiplatelet *** two weeks before the thrombocytopenia was found,the patient developed *** developed in her right hand about one week after being diagnosed with ITP,after which she was admitted to our *** evaluations were *** was decreased,with an increased level of copper in her 24-h urine *** Fleischer's ring (K-F ring) was *** ultrasound showed liver cirrhosis,and brain magnetic resonance imaging showed that the lenticular nucleus,caudate nucleus,and brainstem presented a low signal intensity in T1-weighted images and high signal intensity in T2-weighted *** was diagnosed and a genetic analysis was performed.A compound heterozygous mutation in ATP7B was detected;c.2333G>T (***778Leu) in exon 8 and c.3809A>G (***1270Ser) in exon *** former was inherited from her father and the latter from her ***,her parents showed normal liver function and negative K-F *** a compound mutation in a case of WD associated with ITP in children has not been published *** WD can associate with thrombocytopenia but the mechanism is still *** recommend that antiplatelet autoantibodies should be tested in WD patients with thrombocytopenia in future to verify the association.

关键词： wilson disease Immune thrombocytopenia ATP7B Case report

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wilson disease with hepatic presentation in an eight-month-old boy

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World Journal of Gastroenterology 2015年第29期21卷 8981-8984页

作者： Kuerbanjiang Abuduxikuer Li-Ting Li Yi-Ling Qiu Neng-Li Wang Jian-She Wang Liver Center Children’s Hospital of Fudan University Department of Pediatrics Jinshan Hospital of Fudan University

wilson disease is an autosomal recessive disorder of copper metabolism that can cause fatal neurological and hepatic disease if not diagnosed and treated. The youngest child with normal liver function reported so far is an 8-mo-old Japanese boy with low ceruloplasmin levels, and the youngest child with elevated aminotransferase ever reported so far is a 9-mo-old Korean boy with confirmed by genetic testing. Here we report an 8-mo-old Chinese boy presented with elevated liver enzymes, and low serum ceruloplasmin level. Genetic analysis of ATP7 B gene detected two heterozygous disease causing mutations(c.2621C>T/p.A874 V and c.3809A>G/p.N1270S), and parental origins were determined. Persistent elevation of serum aminotransferase in this infant was normalized after zinc therapy. To our best knowledge, this is the youngest patient with elevated liver enzymes ever reported worldwide. We hope that this will raise awareness among pediatricians, leading to earlier diagnosis, timely treatment, and better clinical outcome.

关键词： wilson disease Infant Hepatic presentation ATP7B Copper Zinc

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wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance

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World Journal of Gastroenterology 2017年第36期23卷 6715-6725页

作者： Kassem Barada Aline El Haddad Meghri Katerji Mustapha Jomaa Julnar Usta Department of Internal Medicine American University of Beirut Medical Center Department of Biochemistry and Molecular Genetics Faculty of Medicine American University of Beirut

AIM To determine the phenotypes and predominant diseasecausing mutations in Lebanese patients with wilson's disease,as compared to regional non-European *** The clinical profile of 36 patients diagnosed in Lebanon was studied and their mutations were determined by molecular *** patients underwent full physical exam,including ophthalmologic slit-lamp examination ultrasound imaging of the liver,as well as measurement of serum ceruloplasmin and 24-h urinaryCu *** addition,genetic screening using PCR followed by sequencing to determine disease-causing mutations and polymorphisms in the ATP7B gene was carried on extracted DNA from patients and immediate family *** phenotypic-genotypic findings were then compared to reported mutations in wilson's disease patients from regional Arab and non-European countries. RESULTS Patients belonged to extended consanguineous *** majority were homozygous for the disease-causing mutation,with no predominant mutation identified. The most common mutation,detected in 4 out of 13families,involved the ATP hinge region and was present in patients from Lebanon,Egypt,Iran and ***,mutations in Lebanese patients and those of the region were scattered over 17 exons of *** the homozygous exon 12 mutation Trp939Cys was only detected in patients from Lebanon but none from the regional countries,the worldwide common mutation H1069Q was not present in the Lebanese and was rare in the *** hepatic phenotype was predominant in patients from both Lebanon and the region(25%-65%).Furthermore,the majority of patients,including those who were asymptomatic,had evidence of some hepatic *** neurologic phenotype was rare. CONCLUSION Findings do not support presence of a founder *** and genetic screening is recommended for family members with index patients and unexplained hepatic dysfunction.

关键词： wilson Disease Cu-metabolism Phenotype Genotype ATP7B Hepatic manifestations

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Construction of single-chromosome DNA library from Lilium regale wilson

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Chinese Science Bulletin 1998年第5期43卷 434-439页

作者： Benyuan Dang Zanmin Hu Yihua Zhou Lihua Cui Lanlan Wang Liangcai Li Zhenghua Chen Chinese Acad Sci Inst Genet Beijing 100101 Peoples R China

A protocol of simple rapid microdissection of single-chromosome, amplification and cloning of its DNA from Lilium regale wilson is described. Single-chromosome, microdissected by micromanipulator, was put into a 0 5 mL Eppendorf tube and digested with Sau3A, and then the Sau3A linker adaptors were ligated to the ends of DNA fragments. After 2 rounds of PCR amplification with one chain of linker adaptor as primer, the PCR products thus obtained have a length of 300-2 500 base pairs (bp) with predominant fragments at about 1 000 bp. Southern blot analysis confirmed that the PCR products originated from the genome of Lilium regale wilson. By cloning the amplification products from the second round of PCR, single-chromosome DNA library was constructed, in which about as many as 100 000 recombinant clones were produced. A total number of 84 clones were analysed, and it was revealed that the inserts ranged in size from 300 to 1 800 bp, with an average of 780 bp. Compared with the methods described in other literature, this protocol, eliminating the need for enzymatic digestion and ligating micromanipulation of chromosomal DNA in nanoliter volumes, permits the efficient amplification of single chromosome (not tens of chromosomes as reported before) and the fragments (780 bp in average) cloned in this study are longer than those reported before (650 bp in average).

关键词： lilium regale wilson single=chromosome dna library.

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wilson disease and psychiatric symptoms: A brief case report

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General Psychiatry 2019年第3期32卷 155-158页

作者： Margarita Guerrero-Jimenez Carmen Maura Carrillo de Albornoz Calahorro Luis Gutierrez Rojas Department of Psychiatry Hospital Universitario Virgen de las Nieves Granada Spain Department of Psychiatry University of Granada Granada Spain Department of Psychiatry Hospital Universitario San Cecilio Granada Spain

wilson disease (WD) is an uncommon recessive genetic disorder affecti叩 copper metabolism. Cardiac, neurological, hepatic and renal manifestations are well defined, nevertheless approximately 30% of patients debut with neuropsychiatric symptoms. These psychiatric alterations resulting from the accumulation of this heavy metal in the basal ganglia are some how less specific. We present a short review of psychiatric symptoms of WD and describe a case of a 37-year-old woman diagnosed with WD who presented neuropsychiatric symptoms and had a consequent delay in diagnosis and causal treatment. Patients who develop WD starti叩 with a predominance of neuropsychiatric symptoms tend to manifest hepatic symptoms later, therefore have a longer delay of diagnosis and a poorer outcome than patients with hepatic symptoms. An early diagnosis ofWD can avoid irreversible neurological damage.

关键词： wilson disease psychiatric symptoms A brief case report

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Differential hepatic features presenting in wilson disease-associated cirrhosis and hepatitis B-associated cirrhosis

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World Journal of Gastroenterology 2019年第3期25卷 378-387页

作者： Hao-Jie Zhong Huan-Huan Sun Lan-Feng Xue Eileen M McGowan Yu Chen Department of Gastroenterology The First Affiliated Hospital of Guangdong Pharmaceutical University Department of Gastroenterology Guangdong Medical University Department of Gastroenterology The First Affiliated Hospital of Xi'an Jiao Tong University Faculty of Science University of Technology Sydney

BACKGROUND Cirrhosis is a chronic late stage liver disease associated with hepatitis viruses,alcoholism, and metabolic disorders, such as wilson disease(WD). There are no clear markers or clinical features that define cirrhosis originating from these disparate origins. We hypothesized that cirrhosis is not one disease and cirrhosis of different etiology may have differential clinical hepatic *** To delineate the liver features between WD-associated cirrhosis and hepatitis Bassociated cirrhosis in the Chinese *** In this observational study, we reviewed the medical data of consecutive inpatients who had WD-associated cirrhosis or hepatitis B-associated cirrhosis from January 2010 to August 2018, and excluded patients who had carcinoma,severe heart or pulmonary diseases, or other liver diseases. According to the etiology of cirrhosis, patients were divided into two groups: WD-associated cirrhosis group(60 patients) and hepatitis B-associated cirrhosis group(56 patients). The liver fibrosis degree, liver function indices, and portal hypertension features of these patients were compared between the two *** No inter-group differences were observed in the diagnostic liver fibrosis markers,however, clinical features clearly defined the origin of cirrhosis. WD-associated cirrhosis patients(16-29 years) had lower levels of alanine transaminase,aspartate transaminase, and bilirubin, lower prothrombin time, lower incidence of hepatic encephalopathy, and lower portal vein diameter(P < 0.05), compared to cirrhosis resulting from hepatitis B in older patients(45-62 years). Importantly,they had decreased risks of progression from Child-Pugh grade A to B(odds ratio = 0.046, 95% confidence interval: 0.006-0.387, P = 0.005) and of ascites(odds ratio = 0.08, 95% confidence interval: 0.01-0.48, P = 0.005). Conversely, WDassociated cirrhosis patients had a higher risk of splenomegaly(odds ratio = 4.15,95% confidence interval: 1.38-12.45, P = 0.011).CON

关键词： Chronic hepatitis B Cirrhosis Hepatic feature Liver function Portal hypertension wilson disease

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V-cycle multigrid methods for wilson nonconforming element

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Science China Mathematics 2000年第7期43卷 673-684页

作者：石钟慈许学军 Institute of Computational Mathematics Chinese Academy of Sciences Beijing 100080 China Correspondence should be addressed to Shi Zhongci

Here two types of optimal V-cycle multigrid algorithms are presented for wilson nonconforming finite element.

关键词： wilson element numerical integrations V-cycle multigrid.

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wilson disease developing osteoarthritic pain in severe acute liver failure: A case report

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World Journal of Hepatology 2019年第7期11卷 607-612页

作者： Jun Kido Shirou Matsumoto Keishin Sugawara Kimitoshi Nakamura Department of Pediatrics Graduate School of Medical SciencesKumamoto University

BACKGROUND wilson disease (WD) is a rare copper metabolism disorder with symptoms including hepatic disorders, neuropsychiatric abnormalities, Kayser-Fleischer rings, and hemolysis in association with acute liver failure (ALF). Osteoarthritis is a rare manifestation of WD. We experienced a case of WD with arthritic pain in the knee and liver cirrhosis. Here, we report the clinical course in a WD patient with arthritic pain and liver cirrhosis receiving combination therapy with Zn and a chelator and discuss the cause of arthritic pain. CASE SUMMARY We present an 11-year-old boy who developed osteoarthritis symptoms and ALF, with a New wilson Index Score (NWIS) of 12. He was diagnosed with WD with decreased serum ceruloplasmin and copper levels, increased urinary copper excretion, and ATP7B gene mutations detected on gene analysis. There was improvement in the liver cirrhosis, leading to almost normal liver function and liver imaging, one year after receiving combination therapy with Zn and a chelator. Moreover, his arthritic pain transiently deteriorated but eventually improved with a decrease in the blood alkaline phosphatase levels following treatment. CONCLUSION Patients with WD who develop ALF with an NWIS > 11 may survive after treatment with Zn and chelators, without liver transplantation, when they present with mild hyperbilirubinemia and stage ≤ II hepatic encephalopathy. Osteoarthritis symptoms may improve with long-term Zn and chelator therapy without correlation of liver function in WD.

关键词： Acute liver failure New wilson Index Osteoarthritis wilson disease Case report

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Genetically confirmed wilson disease in a 9-month old boy with elevations of aminotransferases

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World Journal of Hepatology 2013年第3期5卷 156-159页

作者： Joo Whee Kim Jong Hyun Kim Jeong Kee Seo Jae Sung Ko Ju Young Chang Hye Ran Yang Kyung Hoon Kang Department of Pediatrics Seoul National University Children's Hospital Department of Pediatrics St. Vincent's Hospital The Catholic University of Korea Department of Pathology Seoul National University Children's Hospital

wilson disease (WD) is an autosomal recessive disorder of copper transport caused by alteration of the adenosine triphosphatase 7B gene. It is rare to diagnose WD below the age of three years. Molecular genetic testing is one of the most important diagnostic methods and may confirm the diagnosis in equivocal cases. We report a case of a 9-mo old boy with WD who presented as chronic hepatitis. Genetic analysis showed compound heterozygotes of p.G1186S and c.4006delA.

关键词： Hepatolenticular degeneration wilson disease Early diagnosis Molecular genetics Mutation

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