RESUMO
O acidente vascular cerebral (AVC) é uma complicação clínica grave da doença falciforme (DF). Poucos estudos avaliaram a velocidade do fluxo sanguíneo cerebral utilizando o Doppler transcraniano (DTC) e marcadores preditores do AVC na hemoglobinopatia SC (HbSC) e, desta forma, as velocidades consideradas de risco para os indivíduos com esta hemoglobinopatia são baseadas em velocidades descritas para a anemia falciforme (AF) e para a Sβ talassemia (HbS/β). Assim, o objetivo do presente estudo foi identificar marcadores preditores do AVC em indivíduos com HbSC, estabelecendo subfenótipos da doença pela associação de biomarcadores genéticos, hematológicos, bioquímicos e imunológicos com o valor da velocidade do fluxo sanguíneo cerebral. Para tanto, foi realizado um estudo transversal, onde foram investigados 68 indivíduos com HbSC. A velocidade média máxima do fluxo sanguíneo cerebral nas artérias cerebral média, carótida anterior e cerebral anterior foi determinada utilizando o DTC...
Stroke is a serious clinical complication of sickle cell disease (SCD). Only few studies have evaluated the rate of cerebral blood flow by transcranial Doppler (TCD) and stroke predictor markers on hemoglobinopathy SC (HbSC), thus, velocity considered as risk for stroke that is used to diagnose HbSC individuals are based on velocities described for the sickle cell anemia (SCA) and Sβ thalassemia. The objective of this study was to identify predictors markers of stroke in individuals with HbSC, establishing subphenotypes disease by the association of genetic biomarkers, hematological, biochemical and immunological with the value of the velocity of cerebral blood flow. For that, we conducted a cross-sectional study, which were investigated 68 HbSC individuals. The average maximum rate of cerebral blood flow in the middle cerebral artery, anterior cerebral artery and anterior carotid artery was determined using the DTC...
Assuntos
Humanos , Doença da Hemoglobina SC/complicações , Doença da Hemoglobina SC/diagnóstico , Doença da Hemoglobina SC/imunologia , Doença da Hemoglobina SC/mortalidade , Doença da Hemoglobina SC/patologiaRESUMO
Haemoglobin (Hb) SC disease is the second most common subtype of sickle cell disease and is potentially fatal. This study aimed to determine the clinical characteristics, outcome and predictors of mortality in HbSC disease patients, and to compare these findings with patients followed-up in different centres. Clinical, laboratory and outcome data were collected from a cohort of adult patients with HbSC disease followed between 1991 and 2103. Cox regression multivariate analysis was used to determine predictors of mortality. One hundred and fifty-five patients were followed-up over 20 years: 9% died and 70·8% had at least one complication. The most common complications were: painful crises (38·3%), retinopathy (33·8%), cholelithiasis (30·3%), osteonecrosis (24·8%) and sensorineural hearing disorders (9·7%). Frequency of chronic complications was similar in most studies. In multivariate analysis, hearing disorders remained an independent predictor of mortality (Odds Ratio 9·26, 95% confidence interval 1·1-74·8; P = 0·03). It was concluded that patients with HbSC disease receive a late diagnosis and there is remarkable similarity between the studies conducted in different centres around the world. Sensorineural hearing disorders were an independent predictor of mortality, suggesting that it may be useful to implement routine diagnostic screening.
Assuntos
Doença da Hemoglobina SC/mortalidade , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Brasil/epidemiologia , Criança , Colelitíase/etiologia , Comorbidade , Diagnóstico Tardio , Feminino , Seguimentos , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Neurossensorial/mortalidade , Doença da Hemoglobina SC/sangue , Doença da Hemoglobina SC/complicações , Doença da Hemoglobina SC/diagnóstico , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Osteonecrose/etiologia , Dor/etiologia , Gravidez , Complicações Hematológicas na Gravidez/epidemiologia , Modelos de Riscos Proporcionais , Doenças Retinianas/etiologia , Adulto JovemRESUMO
The prevalence, incidence, risk factors, clinical associations, and morbidity of gallstones were studied in 311 patients with homozygous sickle cell disease and 167 patients with sickle cell-hemoglobin C disease in a cohort study from birth. Gallstones developed in 96 patients with homozygous sickle cell disease and 18 patients with sickle cell-hemoglobin C disease; specific symptoms necessitating cholecystectomy occurred in only 7 patients with homozygous sickle cell disease.
Assuntos
Anemia Falciforme/epidemiologia , Colelitíase/epidemiologia , Doença da Hemoglobina SC/epidemiologia , Adolescente , Adulto , Anemia Falciforme/genética , Anemia Falciforme/mortalidade , Criança , Colecistectomia , Colelitíase/complicações , Colelitíase/cirurgia , Estudos de Coortes , Feminino , Seguimentos , Doença da Hemoglobina SC/mortalidade , Homozigoto , Humanos , Incidência , Jamaica/epidemiologia , Masculino , Vigilância da População , Prevalência , Fatores de Risco , Taxa de SobrevidaRESUMO
The prevalence, incidence, risk factors, clinical associations, and morbidity of gallstones were studied in 311 patients with homozygous sickle cell disease and 167 patients with sickle cell-hemoglobin C disease in a cohort study from birth. Gallstones developed in 96 patients with homozygous sickle cell disease and 18 patients with sickle cell-hemoglobin C disease; specific symptoms necessitating cholecystectomy occurred in only 7 patients with homozygous sickle cell disease.(AU)
Assuntos
Adulto , Criança , Humanos , Masculino , Feminino , Adolescente , Anemia Falciforme/epidemiologia , Colelitíase/epidemiologia , Doença da Hemoglobina SC/epidemiologia , Anemia Falciforme/genética , Anemia Falciforme/mortalidade , Colecistectomia , Colelitíase/complicações , Colelitíase/cirurgia , Estudos de Coortes , Seguimentos , Doença da Hemoglobina SC/mortalidade , Homozigoto , Incidência , Jamaica/epidemiologia , Vigilância da População , Prevalência , Fatores de Risco , Taxa de SobrevidaRESUMO
Most observations on sickle cell disease have been made on symptomatically selected hospital-based populations. As such, they represent a group of patients who are benign enough to have survived, but severe enough to have come to medical attention. Traditional medical descriptions have therefore emphasised only the severe end of what is now recognised to be a wide clinical spectrum. Documentation of this spectrum is important to an understanding of the natural history of the disease and to the determinants of severity. The cohort study was an attempt to define a large representative group of patients with sickle cell disease where there had been no element of symptomatic selection and to follow them prospectively. Between June 1973 and December 1981, 100,000 consecutive normal deliveries were screened at Victoria Jubilee Hospital, Kingston with the detection of 315 children with homozygous sickle cell (SS) disease. 201, with sickle cell-haemoglobin C (SC) disease, 33 with sickle cell cell-beta+ thalassaemia, and 14 with sickle cell-beta§ thalassaemia. Among the SS group, there have been 56 deaths, nearly 10 percent dying in the first year of life. Although symptoms are rare in the first six months of life because of high levels of HbF, the second 6 months of life is the highest risk period at any time in the life of the child, the mortality rate falling for each individual year subsequently. Thus, life-threatening complications occur in SS disease at an age when the underlying haemoglobinopathy may not be suspected. Principle causes of early mortality included acute chest syndrome, acute splenic sequestration and pneumococcal septicaemia. Since the frequency and outcome of these complications may be affected by prophylaxis or early intervention, it is essential that the diagnosis of the underlying haemoglobinopathy be made early. Neonatal diagnosis of sickle cell disease is simple and cost-effective and allows prophylaxis and education programmes to be instituted early (AU)