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  1 / 4753 MEDLINE  
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[PMID]:29386451
[Au] Autor:Kodama H
[Ad] Endereço:Department of Health and Dietetics, Faculty of Health and Medical Sciences, Teikyo Heisei University.
[Ti] Título:[Recent Trends of Trace Element Studies in Clinical Medicine in Japan].
[So] Source:Nihon Eiseigaku Zasshi;73(1):75-82, 2018.
[Is] ISSN:1882-6482
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:The deficiency or excess intake of trace elements, including zinc, copper, selenium and iodine, has often been reported. Zinc deficiency is often observed in infants fed breast milk with low zinc concentration, individuals administered chelating medicines, athletes and patients with diabetes mellitus, hepatic cirrhosis or nephrosis syndrome. Menkes disease is associated with severe copper deficiency, and there is no effective treatment. Deficiencies of selenium and iodine are observed in patients who receive special formulas of milk and enteral formula with low selenium and iodine concentrations, respectively. In contrast, neonatal transient hypothyroidism due to excess intake of iodine in pregnant women has also reported in Japan. It is expected that collaborative studies by researchers and clinicians will contribute to clarify the detail mechanism, diagnosis and treatment of these abnormalities.
[Mh] Termos MeSH primário: Medicina Clínica/tendências
Oligoelementos
[Mh] Termos MeSH secundário: Cobre/deficiência
Feminino
Degeneração Hepatolenticular
Seres Humanos
Hipotireoidismo
Recém-Nascido
Japão
Masculino
Síndrome dos Cabelos Torcidos
Gravidez
Selênio/deficiência
Oligoelementos/deficiência
Zinco/deficiência
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Trace Elements); 789U1901C5 (Copper); H6241UJ22B (Selenium); J41CSQ7QDS (Zinc)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180228
[Lr] Data última revisão:
180228
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180202
[St] Status:MEDLINE
[do] DOI:10.1265/jjh.73.75


  2 / 4753 MEDLINE  
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[PMID]:29381936
[Au] Autor:Ye S; Dai T; Leng B; Tang L; Jin L; Cao L
[Ad] Endereço:Department of Neurology, Tianjin Huanhu Hospital.
[Ti] Título:Genotype and clinical course in 2 Chinese Han siblings with Wilson disease presenting with isolated disabling premature osteoarthritis: A case report.
[So] Source:Medicine (Baltimore);96(47):e8641, 2017 Nov.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Premature osteoarthritis (POA) is a rare condition in Wilson disease (WD). Particularly, when POA is the only complaint of a WD patient for a long time, there would be misdiagnosis or missed diagnosis and then treatment delay. PATIENT CONCERNS AND DIAGNOSIS: Two Chinese Han siblings were diagnosed as WD by corneal K-F rings, laboratory test, and mutation analysis. They presented with isolated POA during the first 2 decades or more of their disease course, and were of missed diagnosis during that long time. The older affected sib became disabled due to his severe osteoarthritis when he was as young as 38 years old. Two compound heterozygous pathogenic variants c.2790_2792del and c.2621C>T were revealed in the ATP7B gene through targeted next-generation sequencing (NGS). LESSONS: Adolescent-onset POA could be the only complaint of WD individual for at least 2 decades. Long delay in the treatment of WD's POA could lead to disability in early adulthood. Detailed physical examination, special biochemical test, and genotyping through targeted NGS should greatly reduce diagnosis delay in atypical WD patients with isolated POA phenotype.
[Mh] Termos MeSH primário: ATPases Transportadoras de Cobre/genética
Erros de Diagnóstico
Degeneração Hepatolenticular
Osteoartrite
Irmãos
Tempo para o Tratamento
[Mh] Termos MeSH secundário: Adulto
Idade de Início
China
Diagnóstico Tardio/efeitos adversos
Diagnóstico Tardio/prevenção & controle
Erros de Diagnóstico/efeitos adversos
Erros de Diagnóstico/prevenção & controle
Avaliação da Deficiência
Progressão da Doença
Degeneração Hepatolenticular/complicações
Degeneração Hepatolenticular/genética
Degeneração Hepatolenticular/fisiopatologia
Seres Humanos
Masculino
Anamnese
Mutação
Osteoartrite/diagnóstico
Osteoartrite/etiologia
Osteoartrite/fisiopatologia
Osteoartrite/prevenção & controle
Índice de Gravidade de Doença
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.6.3.54 (ATP7B protein, human); EC 3.6.3.54 (Copper-transporting ATPases)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180208
[Lr] Data última revisão:
180208
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180201
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008641


  3 / 4753 MEDLINE  
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[PMID]:29324775
[Au] Autor:Xu R; Jiang YF; Zhang YH; Yang X
[Ad] Endereço:Institute of Metabolism and Endocrinology, The Second Xiangya Hospital, Central South University, Changsha, China.
[Ti] Título:The optimal threshold of serum ceruloplasmin in the diagnosis of Wilson's disease: A large hospital-based study.
[So] Source:PLoS One;13(1):e0190887, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND AIMS: A ceruloplasmin (CP) concentration <200 mg/L is conventionally considered as one of the major diagnostic criteria for Wilson's disease (WD). However, the diagnostic accuracy of this threshold has never been investigated in a sufficiently large group of patients. This study aims to present the results of serum CP measurements in various patients and to identify the optimal cutoff value of CP for the diagnosis of WD. MATERIALS AND METHODS: We identified patients whose CP levels were evaluated from January 1, 2016 to December 31, 2016 using a laboratory information database. Data related to CP measurement were retrieved. We carefully reviewed patients' electronic medical records to correct errors and to obtain other necessary data. Data related to WD were retrieved from a special document containing medical records of patients with WD, which were created, modified, and maintained by authors. RESULTS: CP level was determined in 4048 patients (WD, 297; non-WD, 3751). The mean serum CP level in patients with WD was 50.6±44.2 mg/L, which was significantly lower than that in non-WD patients (293.2±117.3 mg/L, p<0.001). Only 1.0% of patients with WD had CP ≥200 mg/L. The sensitivity and specificity of CP for the diagnosis of WD were 99.0 and 80.9%, respectively, for the conventional cutoff value <200 mg/L and 95.6 and 95.5%, respectively, for the cutoff value <150 mg/L; the latter provided a higher diagnostic accuracy for WD. 53.0% of patients with liver failure, 37.7% of patients with nephrotic syndrome, and 23.0% of patients age 1 to 6 months had serum CP <200 mg/L. Patients who were pregnant and those with malignant tumors, and infectious and inflammatory diseases had significantly higher mean serum CP levels. CONCLUSION: The optimal cutoff value of CP for the diagnosis of WD in China is 150 mg/L, with a sensitivity of 95.6% and specificity of 95.5%, thereby providing the highest diagnostic accuracy for WD.
[Mh] Termos MeSH primário: Ceruloplasmina/metabolismo
Degeneração Hepatolenticular/sangue
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Biomarcadores/sangue
Criança
Pré-Escolar
China
Registros Eletrônicos de Saúde
Feminino
Seguimentos
Degeneração Hepatolenticular/complicações
Degeneração Hepatolenticular/terapia
Hospitalização
Seres Humanos
Lactente
Masculino
Meia-Idade
Sensibilidade e Especificidade
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); EC 1.16.3.1 (Ceruloplasmin)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180206
[Lr] Data última revisão:
180206
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180112
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190887


  4 / 4753 MEDLINE  
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[PMID]:28926697
[Au] Autor:Bian K; Chen F; Humulock ZT; Tang Q; Li D
[Ad] Endereço:Department of Biomedical and Pharmaceutical Sciences, College of Pharmacy, University of Rhode Island , Kingston, Rhode Island 02881, United States.
[Ti] Título:Copper Inhibits the AlkB Family DNA Repair Enzymes under Wilson's Disease Condition.
[So] Source:Chem Res Toxicol;30(10):1794-1796, 2017 Oct 16.
[Is] ISSN:1520-5010
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Disturbed metabolism of copper ions can cause diseases such as Wilson's disease (WD). In this work, we investigated the inhibitory effect of Cu(II) ion in vitro on the AlkB family DNA repair enzymes, which are members of the Fe(II)/alpha-ketoglutarate-dependent dioxygenase and include human ALKBH2, ALKBH3, and E. coli AlkB proteins. None of the three proteins was significantly inhibited under normal cellular copper concentrations. However, under WD related condition, we observed that the activities of all three enzymes were strongly suppressed (from 95.2 to 100.0%). We also noted the repair efficiency under ds-DNA condition was less susceptible than ss-DNA to the inhibition.
[Mh] Termos MeSH primário: Cobre/metabolismo
Cobre/toxicidade
Enzimas Reparadoras do DNA/antagonistas & inibidores
Proteínas de Escherichia coli/antagonistas & inibidores
Degeneração Hepatolenticular/induzido quimicamente
Degeneração Hepatolenticular/enzimologia
Oxigenases de Função Mista/antagonistas & inibidores
[Mh] Termos MeSH secundário: Cobre/administração & dosagem
Enzimas Reparadoras do DNA/metabolismo
Escherichia coli/enzimologia
Proteínas de Escherichia coli/metabolismo
Degeneração Hepatolenticular/metabolismo
Seres Humanos
Oxigenases de Função Mista/metabolismo
Estrutura Molecular
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Escherichia coli Proteins); 789U1901C5 (Copper); EC 1.- (Mixed Function Oxygenases); EC 1.14.11.- (AlkB protein, E coli); EC 6.5.1.- (DNA Repair Enzymes)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171101
[Lr] Data última revisão:
171101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170920
[St] Status:MEDLINE
[do] DOI:10.1021/acs.chemrestox.7b00230


  5 / 4753 MEDLINE  
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[PMID]:28855492
[Au] Autor:Tsuchiya M; Takaki R; Kobayashi F; Nagasaka T; Shindo K; Takiyama Y
[Ad] Endereço:Department of Neurology, Faculty of Medicine, University of Yamanashi.
[Ti] Título:Multiple pseudofractures due to Fanconi's syndrome associated with Wilson's disease.
[So] Source:Rinsho Shinkeigaku;57(9):527-530, 2017 09 30.
[Is] ISSN:1882-0654
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:We report a 40-year-old man who presented with multiple bone pseudofractures after about 20 years from the onset of Wilson's disease (WD). At age 36, he first noticed pain in his left shoulder. At age 39, he had multiple chest pain. On neurologic examinations, dysarthria and dysphagia due to pseudobulbar palsy, rigidity and tremor on right upper lim were observed. WD was confirmed because of low levels of plasma cupper and ceruloplasmin in addition to ATP7B gene mutation. The chest X-ray revealed multiple fractures of the several ribs. We diagnosed osteomalacia due to Fanconi's syndrome because of hypophosphatemia and the impairment of renal tubules for WD. After administration of vitamin D, there happened no new bone pseudofractures. Although bone pseudofractures accompanied by Wilson's disease generally happen in childhood, we should be aware of this symptom even in adulthood.
[Mh] Termos MeSH primário: Síndrome de Fanconi/etiologia
Fraturas Múltiplas/etiologia
Degeneração Hepatolenticular/complicações
Fraturas das Costelas/etiologia
[Mh] Termos MeSH secundário: Adenosina Trifosfatases/genética
Adulto
Biomarcadores/sangue
Proteínas de Transporte de Cátions/genética
Ceruloplasmina
Cobre/sangue
ATPases Transportadoras de Cobre
Síndrome de Fanconi/diagnóstico
Fraturas Múltiplas/diagnóstico por imagem
Fraturas Múltiplas/tratamento farmacológico
Degeneração Hepatolenticular/diagnóstico
Seres Humanos
Masculino
Mutação
Osteomalacia/etiologia
Fraturas das Costelas/tratamento farmacológico
Tomografia Computadorizada por Raios X
Resultado do Tratamento
Vitamina D/administração & dosagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Cation Transport Proteins); 1406-16-2 (Vitamin D); 789U1901C5 (Copper); EC 1.16.3.1 (Ceruloplasmin); EC 3.6.1.- (Adenosine Triphosphatases); EC 3.6.3.54 (ATP7B protein, human); EC 3.6.3.54 (Copper-transporting ATPases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170901
[St] Status:MEDLINE
[do] DOI:10.5692/clinicalneurol.cn-000953


  6 / 4753 MEDLINE  
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[PMID]:28715695
[Au] Autor:Golob-Schwarzl N; Krassnig S; Toeglhofer AM; Park YN; Gogg-Kamerer M; Vierlinger K; Schröder F; Rhee H; Schicho R; Fickert P; Haybaeck J
[Ad] Endereço:Department of Pathology, Medical University of Graz, Austria; Center for Biomarker Research in Medicine, Graz, Austria.
[Ti] Título:New liver cancer biomarkers: PI3K/AKT/mTOR pathway members and eukaryotic translation initiation factors.
[So] Source:Eur J Cancer;83:56-70, 2017 Sep.
[Is] ISSN:1879-0852
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Hepatocellular carcinoma (HCC) is the third leading cause of cancer-related deaths worldwide. The initiation of protein translation is an important rate-limiting step in eukaryotes and is crucial in many viral infections. Eukaryotic translation initiation factors (eIFs) are involved in the initiation step of protein translation and are linked to the phosphatidylinositol-3-kinases PI3K/AKT/mTOR pathway. Therefore we aimed to investigate a potential role of eIFs in HCC. We herein report on the immunohistochemical expression of the various eIF subunits in 235 cases of virus-related human HCC. Additionally, we used immunoblot analysis to investigate the expression of virus-related HCC and non-virus-related HCC in comparison to controls. Mammalian target of rapamycin (or mechanistic target of rapamycin as it is known now (mTOR) and activated mTOR were significantly increased in chronic hepatitis C (HCV)-associated HCC, in HCC without a viral background, in alcoholic liver disease and Wilson disease. pPTEN, phosphatase and tensin homologue (PTEN) and pAKT showed a significant increase in HBV- and HCV-associated HCC, chronic hepatitis B, HCC without a viral background, alcoholic steatohepatitis (ASH) and Wilson disease. Phosphorylated (p)-eIF2α, eIF2α, eiF3B, eIF3D, eIF3J, p-eIF4B, eIF4G and eIF6 were upregulated in HCV-associated HCC. eIF2α, p-eIF4B, eIF5 and various eIF3 subunits were significantly increased in chronic hepatitis B (HBV)-associated HCC. HCC without viral background displayed a significant increase for the eIF subunits p-2α, 3C, 3I, 4E and 4G. We noticed engraved differences in the expression pattern between chronic hepatitis B and C, HBV- and HCV-associated HCC and non-virus-related HCC.
[Mh] Termos MeSH primário: Biomarcadores Tumorais/metabolismo
Carcinoma Hepatocelular/metabolismo
Fatores de Iniciação em Eucariotos/metabolismo
Neoplasias Hepáticas/metabolismo
Fosfatidilinositol 3-Quinases/metabolismo
Proteínas Proto-Oncogênicas c-akt/metabolismo
Serina-Treonina Quinases TOR/metabolismo
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Carcinoma Hepatocelular/complicações
Feminino
Hepatite B Crônica/complicações
Hepatite B Crônica/metabolismo
Hepatite C Crônica/complicações
Hepatite C Crônica/metabolismo
Degeneração Hepatolenticular/complicações
Degeneração Hepatolenticular/metabolismo
Seres Humanos
Imuno-Histoquímica
Hepatopatias Alcoólicas/complicações
Hepatopatias Alcoólicas/metabolismo
Neoplasias Hepáticas/complicações
Masculino
Meia-Idade
Subunidades Proteicas/metabolismo
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (Eukaryotic Initiation Factors); 0 (Protein Subunits); EC 2.7.1.- (Phosphatidylinositol 3-Kinases); EC 2.7.1.1 (MTOR protein, human); EC 2.7.1.1 (TOR Serine-Threonine Kinases); EC 2.7.11.1 (Proto-Oncogene Proteins c-akt)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170718
[St] Status:MEDLINE


  7 / 4753 MEDLINE  
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[PMID]:28700067
[Au] Autor:Carvalho V; Chehuan DF; Damian MM
[Ad] Endereço:Departamento de Ensino e Pós-Graduação, Fundação de Medicina Tropical Heitor Vieira Dourado, Manaus, AM, Brasil.
[Ti] Título:Acquired hepatocerebral degeneration in a patient with hepatitis B and hepatitis delta virus coinfection.
[So] Source:Rev Soc Bras Med Trop;50(3):423-426, 2017 May-Jun.
[Is] ISSN:1678-9849
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:Acquired hepatocerebral degeneration is a neurological syndrome with typical clinical (extrapyramidal and neuropsychiatric) symptoms and brain magnetic resonance imaging findings (high T1 signal in the globus pallidus). It occurs mainly in patients with advanced liver disease, such as in patients co-infected with hepatitis B virus (HBV) and hepatitis delta virus (HDV). However, there are no reports relating HBV/HDV coinfection and acquired hepatocerebral degeneration. This report presents the case of a 49-year-old woman with characteristics of acquired hepatocerebral degeneration and liver cirrhosis due to HBV/HDV coinfection, and presents the main theories of the physiopathology of this condition.
[Mh] Termos MeSH primário: Hepatite B/complicações
Hepatite D/complicações
Degeneração Hepatolenticular/virologia
Cirrose Hepática/virologia
[Mh] Termos MeSH secundário: Coinfecção/virologia
Feminino
Seres Humanos
Meia-Idade
[Pt] Tipo de publicação:CASE REPORTS
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170731
[Lr] Data última revisão:
170731
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170713
[St] Status:MEDLINE


  8 / 4753 MEDLINE  
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[PMID]:28690716
[Au] Autor:Patra PK
[Ad] Endereço:Department of Pediatrics, ALL India Institute of Medical Sciences, Patna, Bihar, India.
[Ti] Título:Wilson's disease and diagnostic conundrum in a low income country.
[So] Source:Pan Afr Med J;26:201, 2017.
[Is] ISSN:1937-8688
[Cp] País de publicação:Uganda
[La] Idioma:eng
[Ab] Resumo:Wilson's disease is a well-known leading cause of chronic liver disease in children. However it may remain undiagnosed in a resource limited setting for a long period. We describe a six year male child diagnosed Wilson's disease with extreme elevation of liver enzymes which is not reported earlier. The diagnosis was also baffling because of inconsistency of other laboratory parameters.
[Mh] Termos MeSH primário: Degeneração Hepatolenticular/diagnóstico
Fígado/fisiopatologia
[Mh] Termos MeSH secundário: Criança
Países em Desenvolvimento
Degeneração Hepatolenticular/fisiopatologia
Seres Humanos
Índia
Fígado/enzimologia
Testes de Função Hepática
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170719
[Lr] Data última revisão:
170719
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170711
[St] Status:MEDLINE
[do] DOI:10.11604/pamj.2017.26.201.11377


  9 / 4753 MEDLINE  
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[PMID]:28619500
[Au] Autor:Rahman A; Haque SU; Bhandari PB; Alam S
[Ad] Endereço:Department of Neurosurgery, Bangabandhu Sheikh Mujib Medical University, Shahbag, Dhaka, Bangladesh. Electronic address: bijoun14@yahoo.com.
[Ti] Título:Was Cavum Septum Pellucidum the Cause of Intractable Seizure in a 17-Year-Old Boy with Wilson Disease?
[So] Source:World Neurosurg;105:1035.e5-1035.e10, 2017 Sep.
[Is] ISSN:1878-8769
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Cavum septum pellucidum (CSP), which is often found incidentally in a few populations, occasionally becomes symptomatic if enlarged significantly. Wilson disease (WD) is an uncommon autosomal recessive inborn defect in copper metabolism characterized by abnormal accumulation of copper in various tissues, particularly in the liver and the brain. Seizure disorder, although rare both in CSP and WD, may happen in a few patients with either of the conditions. CASE DESCRIPTION: We report a case of 17-year-old boy, a patient with known WD, who developed intractable seizure for a year, which was not controlled with a large amount of antiepileptics. Magnetic resonance imaging showed enlargement of his preexisting CSP, which was small and asymptomatic at the time of diagnosis of WD. His WD was in a state of remission when he developed the seizure disorder. On endoscopic cyst fenestration, he was relieved of the seizure. CONCLUSIONS: Symptomatic CSP is a rare disorder, but the coexistence of WD is even rarer. Endoscopic cyst fenestration is a novel procedure that can be successful in properly selected cases. To the best of our knowledge, CSP associated with WD has not been reported in any English literature. We present this case for its rarity along with a relevant literature review.
[Mh] Termos MeSH primário: Degeneração Hepatolenticular/complicações
Degeneração Hepatolenticular/patologia
Convulsões/etiologia
Septo Pelúcido/patologia
[Mh] Termos MeSH secundário: Adolescente
Endoscopia/métodos
Degeneração Hepatolenticular/diagnóstico por imagem
Degeneração Hepatolenticular/cirurgia
Seres Humanos
Processamento de Imagem Assistida por Computador
Imagem por Ressonância Magnética
Masculino
Convulsões/diagnóstico por imagem
Convulsões/cirurgia
Septo Pelúcido/diagnóstico por imagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170617
[St] Status:MEDLINE


  10 / 4753 MEDLINE  
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[PMID]:28602929
[Au] Autor:Belousova OB; Okishev DN; Ignatova TM; Balashova MS; Boulygina ES
[Ad] Endereço:Vascular Department, N. N. Burdenko National Center of Neurosurgery Under Ministry of Health of the Russian Federation, Moscow, Russian Federation.
[Ti] Título:Hereditary Multiple Cerebral Cavernous Malformations Associated with Wilson Disease and Multiple Lipomatosis.
[So] Source:World Neurosurg;105:1034.e1-1034.e6, 2017 Sep.
[Is] ISSN:1878-8769
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We report on a patient with 2 Mendelian diseases-symptomatic multiple familial cerebral cavernous malformations (FCCMs) and Wilson disease. Genetic analysis revealed single nucleotide polymorphisms in genes CCM2 and CCM3, associated with cavernous malformations, and homozygote mutation in the ATP7B gene, responsible for Wilson disease. FCCMs were symptomatic in 3 generations. The patient also had multiple lipomatosis, which is suggested to be a familial syndrome. In recent years there has been an increasing amount of publications linking FCCMs with other pathology, predominantly with extracranial and intracranial mesenchymal anomalies. The present study is the description of an unusual association between 2 independent hereditary diseases of confirmed genetic origin-a combination that has not been described previously.
[Mh] Termos MeSH primário: Hemangioma Cavernoso do Sistema Nervoso Central/complicações
Degeneração Hepatolenticular/complicações
Lipoma/complicações
[Mh] Termos MeSH secundário: Proteínas Reguladoras de Apoptose/genética
Encéfalo/diagnóstico por imagem
Proteínas de Transporte/genética
Saúde da Família
Feminino
Seguimentos
Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem
Hemangioma Cavernoso do Sistema Nervoso Central/genética
Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia
Degeneração Hepatolenticular/diagnóstico por imagem
Degeneração Hepatolenticular/cirurgia
Seres Humanos
Lipoma/diagnóstico por imagem
Lipoma/genética
Lipoma/cirurgia
Imagem por Ressonância Magnética
Proteínas de Membrana/genética
Meia-Idade
Mutação/genética
Proteínas Proto-Oncogênicas/genética
Ventriculostomia/métodos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Apoptosis Regulatory Proteins); 0 (CCM2 protein, human); 0 (Carrier Proteins); 0 (Membrane Proteins); 0 (PDCD10 protein, human); 0 (Proto-Oncogene Proteins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170613
[St] Status:MEDLINE



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