RESUMO
Ankyloglossia is a congenital oral anomaly characterized by the presence of a hypertrophic lingual frenulum. It frequently accompanies X-linked cleft palate and is sometimes seen alone due to mutations in the gene encoding the transcription factor TBX22, while knockout of Lgr5 in the mouse results in ankyloglossia. The aim of the present study was to characterize the phenotype and to verify sequence variations in the LGR5 gene in a Brazilian family with ankyloglossia associated with tooth number anomalies. Twelve individuals of three generations were submitted to physical, oral, and radiographic examinations and molecular analysis. Eight had ankyloglossia with various degrees of severity. Six also had hypodontia in the lower incisor region; one had a supernumerary tooth in this region, and another had a supernumerary tooth in the lower premolar region. The characterization of this family determined an autosomal-dominant inheritance and excluded the LGR5 gene mutations as being involved in the pathogenesis of this condition.
Assuntos
Anodontia/complicações , Freio Lingual/anormalidades , Receptores Acoplados a Proteínas G/genética , Doenças da Língua/genética , Dente Supranumerário/complicações , Anodontia/genética , Brasil , Análise Mutacional de DNA , Feminino , Genes Dominantes , Humanos , Masculino , Mutação , Linhagem , Receptores Acoplados a Proteínas G/deficiência , Doenças da Língua/complicações , Doenças da Língua/congênito , Dente Supranumerário/genética , Adulto JovemRESUMO
The survival of hemodialysis patients is likely to be influenced not only by well-known risk factors like age and comorbidity, but also by changes in dialysis technology and practices accumulated along time. We compared the survival curves, dialysis routines and some risk factors of two groups of patients admitted to a Brazilian maintenance hemodialysis program during two consecutive decades: March 1977 to December 1986 (group 1, N = 162) and January 1987 to June 1997 (group 2, N = 237). The median treatment time was 22 months (range 1-198). Survival curves were constructed using the Kaplan-Meier method and compared using the log-rank method. The Cox proportional hazard regression model was used to investigate the more important variables associated with outcome. The most important changes in dialysis routine and in patient care during the total period of observation were the progressive increase in the dose of dialysis delivered, the prohibition of potassium-free dialysate, the use of bicarbonate as a buffer and the upgrading of the dialysis equipment. There were no significant differences between the survival curves of the two groups. Survival rates at 1, 5 and 10 years were 84, 53 and 29%, respectively, for group 1 and 77, 42 and 21% for group 2. Patients in group 1 were younger (45.5 +/- 15.2 vs 52.2 +/- 15.9 years, P < 0.001) and had a lower prevalence of diabetes (11.1 vs 27.4%, P < 0.001) and of cardiovascular disease (9.3 vs 20.7%, P < 0.001). According to the Cox multivariate model, only age (hazard ratio (HR) 1.04, confidence interval (CI) 1.03-1.05, P < 0.001) and diabetes (HR 2.55, CI 1.82-3.58, P < 0.001) were independent predictors of mortality for the whole group. Patients of group 2 had a lower prevalence of sudden death (19.1 vs 9.7%, P < 0.001). After adjusting for age, diabetes and other mortality risk factors, the risk of death was 17% lower in group 2, although this difference was not statistically significant. We conclude that the negative effects of advanced age and of higher frequency of comorbidity on the survival of group 2 patients were probably offset by improvements in patient care and in the quality and dose of dialysis delivered, so that the survival curves did not undergo significant changes along time.
Assuntos
Diálise Renal/mortalidade , Instituições de Assistência Ambulatorial , Brasil , Doenças Cardiovasculares/epidemiologia , Diabetes Mellitus/epidemiologia , Feminino , Humanos , Falência Renal Crônica/terapia , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Prevalência , Fatores de Risco , Análise de Sobrevida , Fatores de TempoAssuntos
Azatioprina/administração & dosagem , Hepatite B Crônica/fisiopatologia , Hepatite C Crônica/fisiopatologia , Imunossupressores/administração & dosagem , Transplante de Rim/imunologia , Azatioprina/efeitos adversos , Azatioprina/uso terapêutico , Progressão da Doença , Esquema de Medicação , Feminino , Seguimentos , Hepatite B Crônica/mortalidade , Hepatite B Crônica/patologia , Hepatite C Crônica/mortalidade , Hepatite C Crônica/patologia , Humanos , Imunossupressores/efeitos adversos , Imunossupressores/uso terapêutico , Transplante de Rim/mortalidade , Transplante de Rim/fisiologia , Fígado/patologia , Testes de Função Hepática , Masculino , Complicações Pós-Operatórias , Estudos Retrospectivos , Taxa de Sobrevida , Fatores de TempoRESUMO
Malignant hypertension is associated with high mortality and morbidity usually caused by cardiovascular events. The course and prognosis of malignant hypertension patients treated with renal replacement therapy has not been thoroughly investigated. In the present work, we compared the clinical evolution and survival of 24 end-stage renal failure malignant hypertension patients with that of a group of individually matched renal failure patients admitted to the same dialysis center during a period of 21 years. Survival rates at 1, 5 and 8 years were 87, 82 and 50% for malignant hypertension patients and 87, 75 and 65% for controls, respectively (p = 0.766, NS). Nonfatal cardiovascular complications occurred in 2 individuals of each group. The most important cause of death in both groups was cardiovascular. The frequency of fatal cardiovascular events was similar in the two groups: 64% of deaths for malignant hypertension and 71% for controls (NS). In conclusion, previous malignant hypertension did not increase the risk of patients in long-term hemodialysis in our series.
Assuntos
Hipertensão Maligna/mortalidade , Falência Renal Crônica/mortalidade , Falência Renal Crônica/terapia , Diálise Renal , Adolescente , Adulto , Idoso , População Negra , Criança , Comorbidade , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Distribuição por Sexo , Taxa de Sobrevida , Tempo , Resultado do Tratamento , População BrancaRESUMO
Patients who die during the first three months on dialysis are not systematically included in the American and European statistics. In contrast, only a few patients survive more than 10 years on this modality of renal replacement therapy. The factors determining these two extreme forms of outcome are poorly understood. We tested the hypothesis that a few variables, easily obtainable at the initiation of dialysis, would identify those individuals at high and low risk of early death. We retrospectively studied 23 patients who died within 90 days of initiating dialysis and 20 patients who survived more than 10 years. These patients were admitted for dialysis to a Brazilian center between July 1, 1976 and February 28, 1997. The baseline variables assessed which were thought to influence survival, were: age, sex, race, body weight, etiology of renal disease, blood pressure, comorbid conditions, hematocrit and serum electrolytes, albumin, creatinine, urea, and urea/creatinine ratio. Univariate analysis showed that patients who died early were older (56.2 +/- 15.6 vs. 42.1 +/- 10.4 years, p < 0.01), had lower serum creatinine (10.6 +/- 2.9 vs. 13.7 +/- 3.7 mg/dL, p < 0.01) and albumin (3.3 +/- 0.9 vs. 4.0 +/- 0.5 g/dL) and a higher urea/creatinine ratio (18.4 +/- 5.8 vs. 13.5 +/- 4.8, p < 0.01) compared with subjects surviving more than 10 years. Early death patients also had more cases of diabetes (35% vs. 0%, p < 0.01) and less chronic glomerulonephritis (9% vs. 35%, p < 0.05). Multivariate analysis showed that age (p < 0.01, CI 1.02 to 1.15, odds ratio 1.1) and urea/creatinine ratio (p < 0.01, CI 1.03 to 1.38, odds ratio 1.2) were positively and independently related to outcome. In the early death group, malnutrition was an important cause of death (17% of all deaths). Compared to baseline data, long-term survivors, at the last follow up, presented reduced systolic blood pressure and increased hematocrit and unchanged body weight, serum albumin and urea/creatinine ratio. These results, based on easily accessible initial variables, suggest that early death on dialysis is influenced by age and by indices related to the nutritional condition of the patients. They also highlight the importance of a potentially correctable risk factor in a population with an elevated prevalence of premature death.
Assuntos
Diálise Peritoneal/mortalidade , Diálise Renal/mortalidade , Brasil/epidemiologia , Estudos de Casos e Controles , Causas de Morte , Feminino , Humanos , Falência Renal Crônica/mortalidade , Falência Renal Crônica/terapia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Análise de Sobrevida , Taxa de Sobrevida , Fatores de TempoRESUMO
Long-term hemodialysis has been reported to cause progression of left ventricular (LV) hypertrophy with a tendency toward asymmetric septal hypertrophy. Renal transplantation is believed to reverse some of these changes. The aim of this prospective study was to compare the effects of long-term hemodialysis and of successful renal transplantation on cardiac structure and function assessed by echocardiography. Fifty-three patients were submitted to two echocardiographic evaluations separated by a 30 +/- 8 month interval. At the first control, all patients were on hemodialysis; at the second, 36 patients remained on dialysis while 17 had been submitted to renal transplantation. Age (44 +/- 13 vs. 40 +/- 10 years), gender (male, 50% vs 53%), and duration of dialysis at the initiation of the study (43 +/- 34 vs. 47 +/- 32 months) were comparable in the 2 groups. The prevalence of LV hypertrophy were 83% (first control) and 69% (second control) in the dialysis group and 82% and 71% in the transplant group. Comparisons between the two periods within each group showed that hemodialysis was associated with a significant reduction of the E/A ratio (1.25 +/- 0.4 vs. 1.02 +/- 0.4, p < 0.001) and systolic (155 +/- 28 vs. 137 +/- 26 mm Hg, p < 0.001) and diastolic (94 +/- 21 vs. 84 +/- 16 mm Hg, p < 0.05) blood pressure, and no change in LV mass index (171 +/- 51 vs. 156 +/- 43 g/m2, NS). In the transplanted group, there were reductions in the E/A ratio (1.42 +/- 0.6 vs 1.10 +/- 0.4, p < 0.05) and in LV diastolic dimension (50 +/- 7 vs. 46 +/- 5 mm, p < 0.05), but not in systolic (155 +/- 27 vs. 152 +/- 31 mm Hg, NS) or diastolic (97 +/- 11 vs. 97 +/- 20 mm Hg, NS) blood pressure. The LV mass index also did not change significantly (157 +/- 51 vs. 133 +/- 31 g/m2, NS).(ABSTRACT TRUNCATED AT 250 WORDS)
Assuntos
Ecocardiografia , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Transplante de Rim , Diálise Renal/efeitos adversos , Adulto , Idoso , Feminino , Hemodinâmica , Humanos , Hipertrofia Ventricular Esquerda/etiologia , Hipertrofia Ventricular Esquerda/fisiopatologia , Falência Renal Crônica/cirurgia , Falência Renal Crônica/terapia , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosAssuntos
Nefropatias Diabéticas/cirurgia , Falência Renal Crônica/cirurgia , Transplante de Rim , Análise Atuarial , Adulto , Azatioprina/administração & dosagem , Nefropatias Diabéticas/mortalidade , Feminino , Humanos , Terapia de Imunossupressão , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Prednisona/administração & dosagem , Recidiva , Estudos RetrospectivosAssuntos
Antígenos de Superfície da Hepatite B/análise , Transplante de Rim , Hepatopatias/etiologia , Complicações Pós-Operatórias , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Hepatite B/etiologia , Hepatite B/imunologia , Humanos , Masculino , Pessoa de Meia-Idade , Transaminases/sangueAssuntos
Transplante de Rim , Lipídeos/sangue , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transplante HomólogoRESUMO
3 patients with renal transplantation who developed polycythemia presented normalization of the hemoglobin levels immediately after nephrectomy of the native kidneys. This observation induced the authors to study the role of the native kidneys in the genesis of polycythemia in recipients of renal allografts. Comparison was made among 32 patients submitted to renal transplantation, with maintenance of native kidneys (group I) and among 31 under the same conditions, but without the native kidneys (group II). Both groups were comparable according to age, sex, rejection crisis incidence and immunosuppressive therapy. It was observed that the hemoglobin levels of group I were significantly higher (p less than 0.05 to p less than 0.005) than those observed in group II, from the 3rd to the 30th posttransplantation month, becoming comparable from the 36th to the 54th months. The hemoglobin production, measured by the kinetics of labeled iron (59Fe), was higher in patients of group I. The authors concluded that the native kidneys are responsible for the observed polycythemia after a kidney transplantation.