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1.
J Hum Genet ; 54(2): 108-14, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19165231

RESUMO

Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by pulmonary hypertension caused by thromboembolism of the pulmonary artery. Etiology of CTEPH may be heterogeneous and is largely unknown, but genetic factors are considered to be involved in the etiology. It has been reported that deep vein thrombosis (DVT) and/or coagulation factor variants are predisposing factors to CTEPH. However, more than half of the CTEPH patients, especially the Japanese, do not have prior DVT or coagulation abnormality, suggesting that there should be other risk factors for CTEPH. Moreover, there are several reports on the association between CTEPH and human leukocyte antigen (HLA). To further clarify the HLA-linked gene(s) controlling the susceptibility to CTEPH, 160 patients (99 without DVT and 61 with DVT) and 380 healthy controls were analyzed for polymorphisms in 15 microsatellite markers and 5 genes in the HLA region. We found a strong association of HLA markers with the DVT-negative CTEPH, DPB1(*)0202 (odds ratio (OR)=5.07, 95% confidence interval (CI)=2.52-10.19, P=0.00000075, corrected P-value (Pc)=0.00014), IKBL-p(*)03 (OR=2.33, 95% CI=1.49-3.66, P=0.00017, Pc=0.033) and B(*)5201 (OR=2.47, 95% CI=1.56-3.90, P=0.000086, Pc=0.016), whereas no significant association was observed for the DVT-positive CTEPH. The comparison of clinical characteristics of patients stratified by the presence of susceptibility genes implied that the DPB1 gene controlled the severity of the vascular lesion, whereas the IKBL gene (NFKBIL1) was associated with a relatively mild phenotype.


Assuntos
Predisposição Genética para Doença , Antígenos HLA-DP/genética , Antígenos de Histocompatibilidade Classe II/genética , Hipertensão Pulmonar/complicações , Hipertensão Pulmonar/genética , Tromboembolia/complicações , Trombose Venosa/genética , Proteínas Adaptadoras de Transdução de Sinal , Adulto , Alelos , Demografia , Feminino , Cadeias beta de HLA-DP , Humanos , Desequilíbrio de Ligação/genética , Masculino , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Tromboembolia/genética , Trombose Venosa/complicações
2.
Circ J ; 70(9): 1174-9, 2006 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16936432

RESUMO

BACKGROUND: Angiotensin-converting enzyme (ACE) plays an important role in vascular remodeling in pulmonary hypertension, and ACE gene polymorphism is associated with exercise-induced pulmonary hypertension in Japanese patients with chronic obstructive pulmonary disease. The present study was designed to investigate if ACE-insertion (I)/deletion (D) polymorphism might be related to the susceptibility, severity, and disease outcome in chronic thromboembolic pulmonary hypertension (CTEPH). METHODS AND RESULTS: ACE-I/D genotypes were determined in 95 consecutive CTEPH patients (46 underwent surgery, 49 received medical treatment) and 97 controls. The frequencies of genotypes and alleles were not significantly different between patients and controls. Clinical characteristics were compared among ACE genotypes (II, ID, DD). ACE D allele carrier (ID plus DD) was associated with a lower 6-min walk test distance compared with D allele non-carrier (II) (330+/-102 (mean +/- SD) vs 381 +/-85 m, p=0.046). Kaplan-Meier analysis in the medically treated group showed significantly deteriorated survival for D allele carriers compared with D allele non-carriers (p=0.0389). Multivariate analysis revealed that age (p=0.013), pulmonary vascular resistance (p=0.008), and D allele carrier status (p=0.021) were independent predictors of survival. CONCLUSION: ACE D allele carrier is possibly one of the prognostic factors for medically treated CTEPH patients.


Assuntos
Alelos , Hipertensão Pulmonar/genética , Peptidil Dipeptidase A/genética , Polimorfismo Genético , Embolia Pulmonar/genética , Adulto , Povo Asiático , Doença Crônica , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Hipertensão Pulmonar/etiologia , Masculino , Pessoa de Meia-Idade , Prognóstico , Doença Pulmonar Obstrutiva Crônica/complicações , Doença Pulmonar Obstrutiva Crônica/genética , Embolia Pulmonar/etiologia , Fatores de Risco
3.
Nihon Kokyuki Gakkai Zasshi ; 41(11): 846-50, 2003 Nov.
Artigo em Japonês | MEDLINE | ID: mdl-14661560

RESUMO

A 60-year-old man was admitted for investigation of an abnormality detected in chest radiography: a giant tumor with calcification in the right middle lung field. A computed tomography (CT) scan revealed multiple tumors with calcification on the posterior chest wall. Histological analysis of the tumor specimen obtained by surgical biopsy demonstrated an increasing number of plasma cells accompanied with the deposition of amyloid. A bone marrow biopsy contained over 50% of plasma cells. We therefore diagnosed these tumors as multiple myeloma. It has been reported that multiple myeloma is usually characterized by osteolytic lesions; osteosclerotic changes are rare. Multiple myeloma should be taken into account as one of the causes of a chest wall tumor even if it is diffusely calcified.


Assuntos
Calcinose , Mieloma Múltiplo/patologia , Neoplasias Torácicas/patologia , Parede Torácica , Células da Medula Óssea/patologia , Diagnóstico Diferencial , Diagnóstico por Imagem , Humanos , Masculino , Pessoa de Meia-Idade , Mieloma Múltiplo/diagnóstico , Osteosclerose , Plasmócitos/patologia , Neoplasias Torácicas/diagnóstico
4.
Nihon Kokyuki Gakkai Zasshi ; 41(5): 341-6, 2003 May.
Artigo em Japonês | MEDLINE | ID: mdl-12822425

RESUMO

A 64-year-old man without respiratory symptoms was introduced to our hospital because of a nodule of 20 mm in diameter found in the left lung in a periodic health examination. The chest radiograph and CT scan showed a well-defined nodule in the middle of the left lung field, and enlarged mediastinal lymph nodes. Lung cancer was suspected, and transbronchial and CT guided biopsies were performed, but did not lead to a definitive diagnosis. Since the patient refused further examinations, we carefully followed up the nodule in the chest radiograph. After a year and a half, the nodule and the lymph nodes became enlarged, and the patient was admitted to the hospital for a surgical biopsy. Video-assisted thoracoscopic surgery followed by thoracotomy was performed for both a biopsy and nodule resection. Histologically, the nodule tissue was rich in amorphous substances positively stained with Congo Red, which was consistent with amyloidosis. No findings of systemic amyloidosis or secondary amyloidosis were demonstrated.


Assuntos
Amiloidose/diagnóstico por imagem , Pneumopatias/diagnóstico por imagem , Biópsia/métodos , Diagnóstico Diferencial , Humanos , Pulmão/patologia , Neoplasias Pulmonares/diagnóstico , Pessoa de Meia-Idade , Radiografia Torácica , Cirurgia Torácica Vídeoassistida , Tomografia Computadorizada por Raios X
5.
Nihon Kokyuki Gakkai Zasshi ; 41(5): 347-50, 2003 May.
Artigo em Japonês | MEDLINE | ID: mdl-12822426

RESUMO

A 44-year-old man visited our hospital because of right chest pain. Pleural effusion in the right lung was detected on a chest radiograph. A chest CT scan demonstrated no abnormal lesions in either lung field, but passive atelectasis due to the pleural effusion was present. Since many eosinophils were found in the exudative pleural effusion, a parasitic infection was suspected. An enzyme-linked immunosorbent assay test led to a diagnosis of eosinophilic pleural effusion by dirofilariasis. Pleural effusion disappeared spontaneously and the level of anti-Dirofilaria immitis antibody decreased. Continued careful observation is necessary in such cases.


Assuntos
Dirofilariose/complicações , Eosinofilia/etiologia , Derrame Pleural/etiologia , Adulto , Animais , Anticorpos Anti-Helmínticos/sangue , Dirofilaria immitis/imunologia , Dirofilariose/diagnóstico , Humanos , Masculino
6.
Nihon Kokyuki Gakkai Zasshi ; 41(12): 905-10, 2003 Dec.
Artigo em Japonês | MEDLINE | ID: mdl-14727554

RESUMO

A 61-year-old man with history of bronchial asthma since childhood was admitted to our hospital for examination of eosinophilia and of lung infiltration seen in the chest radiograph. Allergic bronchopulmonary aspergillosis (ABPA) was diagnosed on the basis of the following findings: elevated serum IgE level, positive immediate skin reaction to Aspergillus antigen, the presence of precipitating antibodies against Aspergillus antigen, and central bronchiectasis. Oral prednisolone administration (30 mg daily) was started. During the course of reducing the prednisolone dose by up to 5 mg per day, pleural effusion appeared in the right lung. It was speculated that this eosinophilic exudative effusion was associated with a relapse of ABPA. After treatment with the dose of prednisolone increased to 20 mg per day and with oral itraconazole, the pleural effusion disappeared. We report a rare case of pleural effusion associated with ABPB on relapse.


Assuntos
Aspergilose Broncopulmonar Alérgica/complicações , Derrame Pleural/etiologia , Aspergilose Broncopulmonar Alérgica/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva
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