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Genetic diagnosis history and osteoarticular phenotype of a nontransfusion secondary hemochromatosis

World Journal of Clinical Cases 2020年第23期8卷 5962-5975页

作者： Dan-Dan Ruan Yu-Mian Gan Tao Lu Xiao Yang Yao-Bin Zhu Qing-Hua Yu Li-Sheng Liao Ning Lin Xin Qian Jie-Wei Luo Fa-Qiang Tang Shengli Clinical Medical College Fujian Medical UniversityFuzhou 350001Fujian ProvinceChina Department of Management Fujian Health CollegeFuzhou 350101Fujian ProvinceChina Department of Traditional Chinese Medicine The First Affiliated HospitalFujian Medical UniversityFuzhou 350005Fujian ProvinceChina Department of Orthopedics Fujian Provincial HospitalFuzhou 350001Fujian ProvinceChina

BACKGROUND It is not easy to identify the cause of various iron overload diseases because the phenotypes ***,it is important to perform genetic testing to determine the genetic background of *** To investigate the genetic background of a patient with hemochromatosis complicated by psoriasis on both lower *** Ten years ago,a 61-year-old male presented with iron overload,jaundice,hemolytic anemia and microcytic hypochromic *** tomography of the left knee joint showed enlargement of the tibial medullary cavity and thinned bone *** resonance imaging showed hepatic hemochromatosis,extensive abnormal signals from bone marrow cavities and nodular lesions in the lateral medullary cavity of the upper left lateral *** photon emission computed tomography showed radial dots of abnormal concentration in the upper end of the left tibia and radial symmetry of abnormal concentrations in joints of the *** patient showed several hot spot mutations of the HFE and G6PD genes detected by next-generation sequencing,but no responsible gene mutation was *** thalassemia gene was detected by *** The patient was found to carry the-α4.2 and--SEA deletion mutations of the globin *** two mutations are common causes of Southeast Asianα-thalassemia,but rarely cause severe widespread non-transfusion secondary hemochromatosis *** simultaneous presence of an auxiliary superposition effect of a rare missense mutation of the PIEZO1 gene(NM_001142864,c.C4748T,p.A1583V)was ***,several rare mutations of the IFIH1,KRT8,POFUT1,FLG,KRT2,and TGM5 genes may be involved in the pathogenesis of *** The selection of genetic detection methods for hemochromatosis still needs to be based on an in-depth study of the clinical manifestations of the disease.

关键词： hemochromatosis hemochromatosis osteoarthropathy Next-generation sequencing Thalassemia Gap-PCR PIEZO1 gene

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Primary Non-HFE hemochromatosis:A Review

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Journal of Clinical and Translational Hepatology 2023年第4期11卷 925-931页

作者： Alla Turshudzhyan David C.Wu George Y.Wu Department of Medicine Division of Gastroenterology-HepatologyUniversity of Connecticut Health CenterFarmingtonCTUSA

Iron homeostasis is a complex process in which iron uptake and use are tightly *** Type 1 or HFE hemochromatosis results from homozygous mutations in the gene that encodes human homeostatic iron regulator(known as human factors engineering,HFE)protein,a regulator of hepcidin,and makes up approximately 90%of all hemochromatosis ***,four types of hemochromatosis do not involve the HFE *** are non-HFE hemochromatosis type 2A(HFE2,encoding HJV),type 2B(HAMP,encoding hepcidin),type 3(TFR2,encoding transferring receptor-2),and types 4A and B(SLC40A1,encoding *** hemochromatosis is extremely *** allele frequencies have been estimated to be 74/100,000 for type 2A,20/100,000 for type 2B,30/100,000 for type 3,and 90/100,000 for type 4 *** guidelines recommend that the diagnosis be made by ruling out HFE mutations,history,physical examination,laboratory values(ferritin and transferrin saturation),magnetic resonance or other imaging,and liver biopsy if *** less common,non-HFE hemochromatosis can cause iron overload as severe as the HFE *** most cases,treatment involves phlebotomy and is successful if started before irreversible damage *** diagnosis and treatment are important because it prevents chronic liver *** review updates the mutations and their pathogenetic consequences,the clinical picture,diagnostic guidelines,and treatment of hemochromatosis.

关键词： Non-HFE hemochromatosis Cirrhosis Iron homeostasis

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Auditory neuropathy in a patient with hemochromatosis

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Journal of Otology 2016年第4期11卷 -页

作者： Gary Rance Donella Chisari The University of Melbourne

Objective:To evaluate the auditory function of an individual with genetically confirmed hemochromatosis. Methods: A 57 year old male with mildly impaired sound detection thresholds underwent a range of behavioural, electroacoustic and elec-trophysiologic assessments. These included the recording of otoacoustic emissions and auditory brainstem responses, measurement of monaural temporal resolution and evaluation of binaural speech processing. Findings for this patient were subsequently compared with those of 80 healthy controls with similar audiometric thresholds. Results: The patient showed the three cardinal features of auditory neuropathy, presenting with evidence of normal cochlear outer hair cell function, disrupted neural activity in the auditory nerve/brainstem and impaired temporal processing. His functional hearing ability (speech perception) was significantly affected and suggested a reduced capacity to use localization cues to segregate signals in the presence of back-ground noise. Conclusion:We present the first case of an individual with hemochromatosis and auditory neuropathy. The findings for this patient highlight the need for careful evaluation of auditory function in individuals with the disorder.

关键词： hemochromatosis Auditory neuropathy Temporal processing Speech perception

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Comprehensive analysis of HFE gene in hereditary hemochromatosis and in diseases associated with acquired iron overload

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World Journal of Hepatology 2019年第2期11卷 186-198页

作者： Wagner Narciso de Campos Juliana Doblas Massaro Eduardo Luiz Rachid Can?ado Cláudia Emília Vieira Wiezel Aguinaldo Luiz Sim?es Andreza Correa Teixeira Fernanda Fernandes de Souza Celso Teixeira Mendes-Junior Ana de Lourdes Candolo Martinelli Eduardo Ant?nio Donadi Division of Clinical Immunology Department of MedicineRibeir?o Preto Medical SchoolUniversity of S?o Paulo Department of Gastroenterology Clinical Gastroenterology and Clinical Hepatology of Clinical HospitalUniversity of S?o Paulo School of Medicine Department of Genetics Ribeir?o Preto Medical SchoolUniversity of S?o Paulo Division of Gastroenterology Department of MedicineRibeir?o Preto Medical SchoolUniversity of S?o Paulo Departamento de Química Laboratório de Pesquisas Forenses e Gen?micasFaculdade de FilosofiaCiências e Letras de Ribeir?o PretoUniversidade de S?o Paulo

BACKGROUND Patients with hepatitis C virus(HCV) and hepatocellular carcinoma(HCC) may or not develop iron overload(IO),which is associated with worst prognosis,because can cause serious damage to *** gene controls the iron uptake from gut,particularly in patients with hereditary hemochromatosis(HH).AIM To identify associations between HFE coding region in patients exhibiting hereditary hemochromatosis and in diseases associated with acquired *** We sequenced exons 2 to 5 and boundary introns of HFE gene,evaluating all polymorphic sites in patients presenting hereditary(hemochromatosis) or acquired iron overload HCV and HCC) and in healthy controls,using Sanger *** also determined the ensemble of extended haplotype in healthy control individuals,including several major histocompatibility complex loci,using sequence specific *** reconstruction was performed using the Arlequin and Phase softwares,and linkage disequilibrium(LD) between histocompatibility loci and HFE gene was performed using the Haploview *** The HFE*003 allele was overrepresented(f = 71%) and HFE*001 allele was underrepresented(f = 14%) in HH patients compared to all groups.A strong linkage disequilibrium was observed among the H63 D-G,IVS2(+4)-C and C282 YG gene variants,particularly in HH;however,the mutation IVS2(+4)T>C was not directly associated with HH *** HFE*001/HFE*002 genotype conferred susceptibility to HCC in HCV patients exhibiting IO(P = 0.02,OR =14.14).Although HFE is telomeric to other histocompatibility genes,the H63 DG/IVS2(+4)-C(P ≤ 0.00001/P ≤ 0.0057) combination was in LD with HLA-B*44 allele group in healthy *** LD was observed between HFE alleles and other major histocompatibility *** A differential HFE association was observed for HH and for diseases associated with acquired IO(HCV,HCC).Since HFE is very distant from other histocompatibility loci,only weak associations were observed with these a

关键词： HFE gene Hepatocellular carcinoma Hepatitis C hemochromatosis hereditary Alleles Haplotypes

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Non-invasive methods for liver fi brosis prediction in hemochromatosis:One step beyond

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World Journal of Hepatology 2010年第7期2卷 251-255页

作者： Agustin Castiella Eva Zapata José M Alústiza Gastroenterology Service Mendaro Hospital Radiology Service Osatek Donostia

Advances in recent years in the understanding of, and the genetic diagnosis of hereditary hemochromatosis (HH) have changed the approach to iron overload he-reditary diseases. The ability to use a radiologic tool (MRI) that accurately provides liver iron concentration determination, and the presence of non-invasive sero-logic markers for fibrosis prediction (ser um ferritin, platelet count, transaminases, etc), have diminished the need for liver biopsy for diagnosis and prognosis of this disease. Consequently, the role of liv er biopsy in iron metabolism disorders is changing. Furthermore, the irruption of transient elastography to assess liver stiffness, and, more recently, the ability to determine liver f ibrosis by means of MRI elastography will change this role even more, with a potential drastic decline in hepatic biopsies in years to come. This review will provide a brief summary of the different non-invasive methods available nowadays for diagnosis and prognosis in HH, and point out potential new techniques that could come about in the next years for fibrosis prediction, thus avoiding the need for liver biopsy in a greater number of patients. It is possible that liver biopsy will remain useful for the diagnosis of associated diseases, where other non-invasive means are not po-ssible, or for those rare cases displaying discrepancies between radiological and biochemical markers.

关键词： hemochromatosis Iron overload Liver fibrosis Non-invasive Magnetic resonance imaging Ultrasound elastography

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Patatin-like phospholipase domain containing-3 gene I148M polymorphism, steatosis, and liver damage in hereditary hemochromatosis

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World Journal of Gastroenterology 2012年第22期18卷 2813-2820页

作者： Luca Valenti Paolo Maggioni Alberto Piperno Raffaela Rametta Sara Pelucchi Raffaella Mariani Paola Dongiovanni Anna Ludovica Fracanzani Silvia Fargion Università degli Studi di Milano Fondazione Ca' Granda IRCCS Ospedale Maggiore Policlinico 20122 Milano Italy Università di Milano Bicocca Ospedale San Gerardo Monza 20090 Monza MI Italy

AIM： To investigate whether the patatin-/ike phosph- olipase domain containing-3 gene （PNPLA3） I148M polymorphism is associated with steatosis, fibrosis stage, and cirrhosis in hereditary hemochromatosis （HH）. METHODS： We studied 174 consecutive unrelated homozygous for the C282Y HFE mutation of HH （C282Y＋/＋ HH） patients from Northern Italy, for whom the presence of cirrhosis could be determined based on histological or clinical criteria, without excessive alcohol intake （〈 30/20 g/d in males or females） or hepatitis B virus and hepatitis C virus viral hepatitis. Steatosis was evaluated in 123 patients by histology （n = 100） or ul- trasound （n = 23）. The PNPLA3 rs738409 single nucle- otide polymorphism, encoding for the p.148M protein variant, was genotyped by a Taqman assay （assay on demand, Applied Biosystems）. The association of the PNPLA3 I148M protein variant （p.I148M） with steatosis, fibrosis stage, and cirrhosis was evaluated by logistic regression analysis. RESULTS： PNPLA3 genotype was not associated with metabolic parameters, including body mass index （BMI）, the presence of diabetes, and lipid levels, but the pres- ence of the p.148M variant at risk was independently associated with steatosis [odds ratio （OR） 1.84 per p.148M allele, 95% confidence interval （CI）： 1.05-3.31; P = 0.037], independently of BMI and alanine amino- transaminase （ALT） levels. The p.148M variant was also associated with higher aspartate aminotransferase （P = 0.0014） and ALT levels （P = 0.017） at diagnosis, independently of BMI and the severity of iron overload. In patients with liver biopsy, the 148M variant was independently associated with the severity （stage） of fibrosis （estimated coefficient 0.56 ± 0.27, P = 0.041）. In the overall series of patients, the p.148M variant was associated with cirrhosis in lean （P = 0.049）, but not in overweight patients （P = not significant）. At logistic regression analysis, cirrhosis was associated with BMI 〉~ 25 （OR 1.82, 95% CI： 1.02-3.55）, ferri

关键词： Fatty liver Fibrosis hemochromatosis HFEprotein Iron overload Patatin-like phospholipase domaincontaining-3 gene Steatosis

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Occult celiac disease prevents penetrance of hemochromatosis

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World Journal of Gastroenterology 2005年第21期11卷 3323-3326页

作者： Andreas Geier Carsten Gartung Igor Theurl Guenter Weiss Frank Lammert Christoph G.Dietrich Ralf Weiskirchen Heinz Zoller Benita Hermanns Siegfried Matern Department of Internal Medicine Ⅲ Aachen University (RWTH) AachenGermany Department of Internal Medicine University of Innsbruck InnsbruckAustria Department of Clinical Chemistry and Pathobiochemistry Aachen University(RWTH) AachenGermany Department of Pathology Aachen University (RWTH) AachenGermany Department of Internal Medicine Ⅲ Aachen University(RWTH) Aachen Germany

AIM:To report a patient with C282Y homozygocity,depleted body iron and intestinal atrophy caused by celiac disease (CD) who experienced resolution of the enteropathy with subsequent normalization of iron metabolism upon gluten free diet. METHODS:To obtain information on the tissue distribution and quantitative expression of proteins involved in duodenal iron trafficking,we determined the expression of divalent-metal transporter 1 (DMT1),ferroportin 1 (FP1) and transferrin receptor (TfR1) by means of immunohist-ochemistry and real-time PCR in duodenal biopsies of this patient. RESULTS:Whereas in hereditary hemochromatosis patients without CD, DMT1 expression was up-regulated leading to excessive uptake of iron, we identified a significant reduction in protein ana mRNA expression of DMT1 as a compensatory mechanism in this patient with HH and CD. CONCLUSION:Occult CD may compensate for increased DMT1 expression in a specific subset of individuals with homozygous C282Y mutations in the hemochromatosis (HFE) gene,thus contributing to the low penetrance of HH.

关键词： hemochromatosis Celiac disease Divalentmetal transporter 1 Transferrin receptor Iron metabolism

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An unhappy triad:hemochromatosis, porphyria cutanea tarda and hepatocellular carcinoma-A case report

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World Journal of Gastroenterology 2007年第13期13卷 1998-2001页

作者： Martina T Mogl Andreas Pascher Sabine J Presser Michael Schwabe Peter Neuhaus Natascha C Nuessler Department of Surgery Charité Campus Virchow-Klinikum Augustenburger Platz 1 Berlin 13353 Germany

Liver fibrosis and cirrhosis are predisposing factors for the development of hepatocellular carcinoma （HCC）. Hemosiderosis has also been described to trigger carcinogenesis. A significant iron overload, as found in hereditary hemochromatosis （HHC）, is a risk factor for HCC and may also promote the symptoms of porphyria cutanea tarda （PCT）. A 68-year old male patient presented to our clinic with a suspected HCC, elevated alpha-fetoprotein but normal liver function tests. He reported a 25 year-old history of vitiligo upon exposure to sunlight. The patient underwent an extended left hemihepatectomy, and the recovery was uneventful, with the exception of a persistent hyperbilirubinemia. Perfusion problems and extrahepatic cholestasis were ruled out by CT-scan with angiography and MR-cholangiopancreatography. However, MR1 showed an iron overload. Histology confirmed the HCC （pT3, pN0, G3, R0） and revealed a portal fibrosis and hemosiderosis. Based on the skin lesions we suspected a PCT that was confirmed by laboratory tests showing elevated porphyrin, uroporphyrin, coproporphyrin and porphobilinogen. Concurrently, molecular diagnostics revealed homozygosity for the C282Y mutation within the hemochromatosis HFE gene. After phlebotomy and normalization of liver function tests the patient was discharged. This is the first case ever showing the unusual combination of HCC in a fibrotic liver with HHC and PCT. This diagnosis not only warrants oncological follow-up but also symptomatic therapy to normalize iron metabolism and thereby improve liver function and alleviate the symptoms of HHC and PCT. Thus progression of fibrosis may be prevented and liver regeneration supported.

关键词： Hepatocellular carcinoma hemochromatosis Porphyria cutanea tarda

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Intestinal heme absorption in hemochromatosis gene knock-out mice

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World Journal of Hematology 2017年第1期6卷 17-23页

作者： Abas H Laftah Robert J Simpson Gladys O Latunde-Dada Vascular Sciences NHLIImperial Centre for Translational and Experimental MedicineImperial College London Faculty of Life Sciences and Medicine Division of Diabetes and Nutritional SciencesKing’s College London

AIM To investigat the influence of hemochromatosis gene(Hfe) mutation on ^(59)Fe labelled duodenal heme absorption in *** Heme absorption was measured in Hfe wild type and Hfe^((-/-)) mice by the duodenal tied loop and by oral gavage methods. The m RNA expression of heme oxygenase(HO-1), Abcg2 and Flvcr1 genes and levels were determined by quantitative polymerase chain *** Heme absorption was significantly increased in homozygous Hfe^((-/-)) mice despite significant hepatic and splenic iron overload. While duodenal HO-1 mRNA was highly expressed in the wild type and Hfe^((-/-)) heme-treated group following 24 h heme administration, Flvcr1 a mRNA decreased. However, Abcg2 mRNA expression levels in duodenum remained unchanged. CONCLUSION Heme absorption was enhanced in Hfe^((-/-)) mice from both duodenal tied-loop segments and by oral gavage methods. HO-1 m RNA levels were enhanced in mice duodenum after 24 h of heme feeding and may account for enhanced heme absorption in Hfe^((-/-)) mice. Implications for dietary recommendations on heme intake by Hfe subjects to modulate iron loading are important clinical considerations.

关键词： hemochromatosis gene Heme Gavage Iron Absorption

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Management of human factors engineering-associated hemochromatosis: A 2015 update

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World Journal of Hepatology 2016年第8期8卷 395-400页

作者： Menaka Sivakumar Lawrie W Powell School of Medicine the University of Queensland Centre for the Advancement of Clinical Research Royal Brisbane and Women’s Hospital Campus

This review focuses on the management of iron metabolism and iron overload experienced in the hereditary condition, human factors engineering(HFE)-associated hemochromatosis. hemochromatosis refers to a group of genetic diseases that result in iron overload; the major one globally is HFE-associated hemochromatosis. The evolution in understanding of the most common form of hereditary hemochromatosis, being the substation of cysteine to a tyrosine at position 282 in the HFE gene, has been extensively studied Novel mutations in both HFE and non-HFE genes have been indicated in this disease which hold significance in its application for the Asia-Pacific region. In conditions with iron overload, the storage of excess iron in various body tissues leads to complications and toxic damage. The most common presenting complaint for this disease is malaise, lethargy and other non-specific symptoms. In order to diagnose hereditary hemochromatosis, there are biochemical, imaging and genetic testing options. Currently, cascade screening of affected families is preferred over population-level screening. The mainstay of treatment is venesection and the appropriate approach to treatment has been consolidated over the years. Recently, the indications for venesection therapy of hemochromatosis have been challenged and are the subject of ongoing research.

关键词： Human factors engineering Iron storage diseases Genetics Venesections hemochromatosis

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