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1.
Circ J ; 83(9): 1901-1907, 2019 08 23.
Artigo em Inglês | MEDLINE | ID: mdl-31308318

RESUMO

BACKGROUND: Although previous studies have suggested a certain prevalence of Fabry disease (FD) in left ventricular hypertrophy (LVH) patients, the screening of FD is difficult because of its wide-ranging clinical phenotypes. We aimed to clarify the utility of combined measurement of plasma globotriaosylsphingosine (lyso-Gb3) concentration and α-galactosidase A activity (α-GAL) as a primary screening of FD in unexplained LVH patients.Methods and Results:Between 2014 and 2016, both lyso-Gb3 and α-GAL were measured in 277 consecutive patients (male 215, female 62, age 25-79 years) with left ventricular wall thickness >12 mm on echocardiogram: 5 patients (1.8%) screened positive (2 (0.7%) showed high lyso-Gb3 and 4 (1.4%) had low α-GAL levels). Finally, 2 patients (0.7%) were diagnosed with clinically significant FD. In 1 case, a female heterozygote with normal α-GAL levels had genetic variants of unknown significance and was diagnosed as FD by endomyocardial biopsy. The other case was a male chronic renal failure patient requiring hemodialysis, and he had a p.R112H mutation. In both cases there were high lyso-Gb3 levels. CONCLUSIONS: The serum lyso-Gb3 level can be relevant for clinically significant FD, and combined measurement of lyso-Gb3 and α-GAL can provide better screening of FD in unexplained LVH patients.


Assuntos
Doença de Fabry/sangue , Glicolipídeos/sangue , Hipertrofia Ventricular Esquerda/sangue , Esfingolipídeos/sangue , Adolescente , Adulto , Idoso , Biomarcadores/sangue , Doença de Fabry/diagnóstico por imagem , Doença de Fabry/genética , Doença de Fabry/fisiopatologia , Feminino , Predisposição Genética para Doença , Humanos , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Hipertrofia Ventricular Esquerda/genética , Hipertrofia Ventricular Esquerda/fisiopatologia , Japão , Masculino , Pessoa de Meia-Idade , Mutação , Valor Preditivo dos Testes , Estudos Prospectivos , Função Ventricular Esquerda , Remodelação Ventricular , Adulto Jovem , alfa-Galactosidase/sangue , alfa-Galactosidase/genética
2.
Circ J ; 78(5): 1206-15, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24614510

RESUMO

BACKGROUND: Microtubule (MT) disorganization is related to cardiac disorders. To elucidate the mechanism by which disorganization of the MT network deteriorates cardiac function, the relationship between MT disorganization and mitochondrial permeability transition pore (mPTP) in cardiac myocytes was investigated. METHODS AND RESULTS: The effects of MT stabilization (by paclitaxel) and MT disruption (by nocodazole) on mitochondrial membrane potential (ΔΨm) and the opening of mPTP were measured in permeabilized Sprague-Dawley rat myocytes. Both paclitaxel and nocodazole depolarized ΔΨm and opened mPTP. When isolated mitochondria were exposed to paclitaxel or nocodazole, there were no changes in ΔΨm. The effects of paclitaxel or nocodazole on ΔΨm depolarization and mPTP were inhibited by cyclosporin A. Treatment of myocytes with 0Ca+BAPTA or inhibition of sarcoplasmic reticulum (SR) Ca(2+) uptake by thapsigargin prevented the effect of paclitaxel on mPTP, but not that of nocodazole. Inhibition of the mitochondrial Ca(2+) uniporter by Ru360 did not alter the effect of paclitaxel on mPTP. Paclitaxel reduced the expression of the mitochondrial fusion protein, mitofusin-2, and induced mitochondrial fragmentation. CONCLUSIONS: Disruption of the MT network by nocodazole might destroy the MT-mitochondria connection and alter mitochondrial function. MT disorganization by paclitaxel could regulate mPTP through the outer mitochondrial membrane complex and the Ca(2+)-sensitive signaling pathway, which also interacts with the mitochondrial fusion protein, mitofusin-2.


Assuntos
Microtúbulos/metabolismo , Mitocôndrias Cardíacas/metabolismo , Proteínas de Transporte da Membrana Mitocondrial/metabolismo , Miócitos Cardíacos/metabolismo , Animais , Ciclosporina/farmacologia , Inibidores Enzimáticos/farmacologia , GTP Fosfo-Hidrolases , Masculino , Potencial da Membrana Mitocondrial/efeitos dos fármacos , Proteínas de Membrana/metabolismo , Poro de Transição de Permeabilidade Mitocondrial , Proteínas Mitocondriais/metabolismo , Nocodazol/farmacologia , Paclitaxel/farmacologia , Ratos , Ratos Sprague-Dawley , Compostos de Rutênio/farmacologia , Tapsigargina/farmacologia , Moduladores de Tubulina/farmacologia
3.
Heart Vessels ; 28(5): 620-5, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22968853

RESUMO

Common carotid artery (CCA) injury is a serious complication of internal jugular vein (IJV) cannulation. To minimize unintentional CCA puncture, the anatomic relationship between the IJV and the CCA and the size of IJV were compared under different head positions. Ultrasound analyses of the IJV and the CCA were performed in 103 consecutive patients. Overlapping angle (OA), real puncture angle (RPA) and diameter of IJV (D IJV) were evaluated with 30° and 60° left rotation and with 30° left flexion. When the head position was changed from 30° left rotation to 60° left rotation, OA increased significantly from 6.5° ± 7.7° to 14.5° ± 7.4° at the cricoid cartilage level (Cricoid-level) and from 14.4° ± 8.4° to 20.6° ± 6.9° at the middle triangle level (Triangle-level), whereas RPA decreased significantly at these levels (from 49.7° ± 11.9° to 43.5° ± 13.1° and from 51.1° ± 14.4° to 44.3° ± 13.9°, respectively; P < 0.01 for both). When the head position was changed from 30° left rotation to 30° left flexion, neither OA nor RPA significantly changed (OA: 6.3° ± 6.1° and 15.0° ± 7.2°, RPA: 48.5° ± 12.4° and 51.8° ± 13.6°, P not significant vs 30° left rotation). There was no difference in D IJV when comparing 30° left rotation and 30° left flexion, although D IJV was largest at 60° left rotation. RPA positively correlated with age, and D IJV positively correlated with body mass index. In conclusion, excessive left rotation should be avoided to minimize the probability of unintentional CCA puncture during IJV cannulation. When 30° left rotation is not feasible, the head-flexion position should be utilized.


Assuntos
Artéria Carótida Primitiva/diagnóstico por imagem , Movimentos da Cabeça , Veias Jugulares/diagnóstico por imagem , Posicionamento do Paciente , Ultrassonografia de Intervenção , Idoso , Pontos de Referência Anatômicos , Lesões das Artérias Carótidas/etiologia , Lesões das Artérias Carótidas/prevenção & controle , Cateterismo Venoso Central/efeitos adversos , Feminino , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Valor Preditivo dos Testes , Punções , Rotação
4.
J Cardiol Cases ; 5(2): e96-e99, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30532914

RESUMO

An asymptomatic 43-year-old woman visited our hospital for differential diagnosis of cardiac murmur. The transthoracic echocardiogram exhibited a dilated duct, which had turbulently accelerated color Doppler flow behind left ventricle. The coronary angiography (CAG) revealed a marked dilated left circumflex artery (LCX), which appeared to connect to coronary sinus (CS), indicating coronary artery fistula. However, it was difficult to define the drainage site of fistula in CAG, because the imaging contrast was insufficient for markedly dilated LCX. The drainage site of fistula to CS was finally defined by electrocardiogram-gated 64-multi-detector computed tomography (MDCT), and MDCT revealed the LCX aneurysm in the termination site of fistula. The patient underwent ligation of LCX-CS fistula and direct closure of coronary aneurysm. After the operation, no residual coronary fistula flow was detected either by CAG or MDCT. We present here a patient with coronary aneurysm associated with coronary fistula (CAACF), who underwent surgical operation, and suggest that MDCT is a helpful modality for the diagnosis of CAACF.

5.
Cardiovasc Interv Ther ; 26(1): 64-9, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24122502

RESUMO

A 36-year-old male was diagnosed with acute inferior myocardial infarction (MI). Emergent coronary angiography (CAG) revealed an occlusive lesion in the distal segment of the right coronary artery (RCA). The proximal and distal sites of the lesion were treated with a bare-metal stent (BMS) and a sirolimus-eluting stent (SES), respectively. Nine days later, he underwent elective percutaneous coronary intervention (PCI). Two SESs were implanted for the stenotic lesion in the left anterior descending artery (LAD), in addition to one SES for the mid-stenotic lesion in the left circumflex artery (LCX). Nine months after PCI, follow-up CAG revealed no restenosis at any stent-implanted site. Two years and 4 months after PCI, he was admitted to our hospital because of acute anterior MI. Emergent CAG revealed total thrombotic occlusion in the in-stent proximal site of LAD. Moreover, thrombotic lesions were also observed in in-stent sites: in both BMS of RCA and SES of LCX. He underwent intracoronary aspiration thrombectomy and plain old balloon angioplasty for LAD using intra-aortic balloon pumping. PCI for the thrombotic lesions in RCA and LCX was not performed. Seventeen days after the stent thrombosis, CAG revealed the complete disappearance of thrombi in LAD, LCX, and RCA.

6.
Am J Med Genet ; 112(1): 31-7, 2002 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-12239717

RESUMO

ICF syndrome is a rare autosomal recessive disorder characterized by immunodeficiency, centromeric instability, and facial anomalies. It is caused by mutations in a de novo DNA methyltransferase gene, DNMT3B. We here report the first three Japanese cases of ICF syndrome from two unrelated families. All patients had typical facial dysmorphism and immunoglobulin A (IgA) deficiency, but none of them had apparent mental retardation. Cytogenetic analysis of peripheral blood lymphocytes showed chromosomal abnormalities, including multiradial configurations and a stretching of the pericentromeric heterochromatin of chromosomes 1 and 16. Hypomethylation of classical satellite 2 DNA was also observed. Mutation analyses of DNMT3B revealed three novel mutations: patient 1 from the first family was a compound heterozygote for a nonsense mutation (Q42Term) and a missense mutation (R832Q); patients 2 and 3 from the second family were both homozygous for a missense mutation (S282P). The R832Q mutation occurred within the conserved methyltransferase domain, and thus may affect the enzyme activity directly. The S282P mutation, on the other hand, occurred close to the PWWP domain, which is presumably involved in protein-protein interaction. This is the first missense mutation mapped to the N-terminal half of the protein, suggesting that the region plays an important role in the regulation of the DNMT3B enzyme.


Assuntos
DNA (Citosina-5-)-Metiltransferases/genética , Face/anormalidades , Mutação , Adulto , Sequência de Bases , Pré-Escolar , Aberrações Cromossômicas , Metilação de DNA , Primers do DNA , Feminino , Humanos , Lactente , Japão , Masculino , Linhagem , Síndrome , DNA Metiltransferase 3B
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