RESUMO
INTRODUCTION: The molecular bases and clinical features of hereditary angioedema (HAE) have not been systematically documented in Japan or in other Asian countries. Thus, the authors researched the genetic and clinical characteristics of Japanese patients with HAE. METHODS: The authors analyzed the CIINH gene for mutations in 13 unrelated Japanese patients with HAE by means of the polymerase chain reaction and nucleotide sequencing. In addition, the authors searched the literature from January 1969 to October 2010 on Japanese patients with HAE. RESULTS: Seven of the mutations found were novel, including 4 missense mutations (8728T>G, 8831C>A, 16661T>G and 16885C>A), 2 frameshift mutations (2281_2350del70, 14158delT) and 1 large deletion (at least 1 kb-length deletion including exon 4), whereas 6 mutations had previously been reported in European populations. CONCLUSIONS: The genetic and clinical characteristics in Japanese patients with HAE may be similar to those in Western patients although our sample size is small and the authors identified 7 novel mutations.
Assuntos
Angioedemas Hereditários/genética , Povo Asiático/genética , Proteínas Inativadoras do Complemento 1/genética , Mutação , Adolescente , Adulto , Criança , Proteína Inibidora do Complemento C1 , Feminino , Humanos , Masculino , Reação em Cadeia da Polimerase , Polimorfismo Conformacional de Fita SimplesRESUMO
BACKGROUND/AIMS: Transcatheter arterial chemoembolization (TACE) has been reported as effective therapy for unresectable hepatocellular carcinoma (HCC), however, few have described methods for predicting prognosis, especially in patients treated by repeated TACE. To determine risk factors for death and try to predict the prognosis, we evaluated clinical data. METHODOLOGY: We retrospectively analyzed the clinical parameters of 224 patients with unresectable HCC treated with repeated TACE from January 1997 to December 2007. TACE was repeated when recurrence was diagnosed by tumor marker elevation and/or dynamic computed tomography findings. Factors affecting survival were evaluated using multivariate analysis after univariate analysis. Next, we combined the score for each significant factor into a single prognostic score and added up the positive factors in each case, then analyzed the significance of prognosis, after which the results were compared with other prognostic scoring systems. RESULTS: Multivariate analysis revealed that bilobular HCC, alpha-fetoprotein (> or = 400 ng/ml), tumor invasion of the portal vein, tumor size (> or = 10 cm), and albumin (< 2.8 g/dl) were related to poor prognosis, and developed a prognostic scoring system from those. According to that score, patients were classified into 5 groups. CONCLUSION: Our scoring system was easily performed and the results showed that repeated TACE should not be administered to patients with scores of 3 or more.
Assuntos
Carcinoma Hepatocelular/mortalidade , Carcinoma Hepatocelular/terapia , Quimioembolização Terapêutica , Neoplasias Hepáticas/mortalidade , Neoplasias Hepáticas/terapia , Idoso , Albuminas/análise , Biomarcadores Tumorais/análise , Feminino , Humanos , Masculino , Invasividade Neoplásica , Veia Porta/patologia , Prognóstico , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Fatores de Risco , Estatísticas não Paramétricas , Taxa de Sobrevida , Tomografia Computadorizada por Raios X , alfa-Fetoproteínas/análiseRESUMO
BACKGROUND/AIMS: We performed a long-term assessment of liver regeneration with or without PVL after massive hepatectomy in similar sized remnant livers to evaluate effects of regenerating livers preactivated by PVL following massive hepatectomy. METHODOLOGY: Rats were randomly divided into two groups, PVL-88%Hx and sham 88%Hx. As the initial operation, PVL or sham operation was performed by ligation of the portal vein of the left and median lobes or a similar manipulation without ligation, respectively. Four days after PVL, the volume of the posterior caudate lobe (5%) increased approximately two-fold (12%) and was the same size as the whole caudate lobe (12%) in the sham animals. Subsequently, 88%Hx was performed in the two groups. RESULTS: Survival rates were not significantly different between the two groups. Relative liver weight in PVL-88%Hx group was significantly higher up to 24hr, but after 48hr no significant difference was evident between the two groups. PCNA LI in sham-89%Hx group was significantly higher than that in PVL-88%Hx group after 48hr. The mRNA expression levels of activin A and ActRIIA were significantly higher in PVL-88%Hx group than in sham-88% group at 72 hr. CONCLUSIONS: The regenerating liver preactivated by PVL is restricted late-phase liver regeneration after massive hepatectomy.
Assuntos
Regeneração Hepática , Fígado/cirurgia , Veia Porta/cirurgia , Receptores de Activinas Tipo II/genética , Receptores de Activinas Tipo II/metabolismo , Ativinas/genética , Ativinas/metabolismo , Animais , Bilirrubina/sangue , Proliferação de Células , Hepatectomia , Hepatócitos/metabolismo , Ligadura , Fígado/irrigação sanguínea , Fígado/citologia , Masculino , Tamanho do Órgão , Antígeno Nuclear de Célula em Proliferação/genética , Antígeno Nuclear de Célula em Proliferação/metabolismo , RNA Mensageiro/análise , RNA Mensageiro/metabolismo , Ratos , Ratos Endogâmicos , Albumina Sérica/análiseRESUMO
We encountered two cases of C1 inhibitor deficiency (26-year-old man and 29-year-old woman). They had been suffering from paroxysmal abdominal pain for many years. Imaging studies showed wall thickening of the intestine and ascites and diagnosis was difficult. Decreased serum levels of C4 and C1INH activity indicated a diagnosis of C1INH deficiency. Although C1INH deficiency is rare, it should be considered as a differential diagnosis in young patients with paroxysmal abdominal pain.
