Navegando por Palavras-chave "Sickle cell disease"

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    Absence of Association between TNF-alpha Polymorphism and Cerebral Large-Vessel Abnormalities in Adults with Sickle Cell Anemia
    (Karger, 2011-01-01) Vicari, Perla [UNIFESP]; Silva, Gisele Sampaio [UNIFESP]; Elko Nogutti, Maria Aparecida [UNIFESP]; Moreira Neto, Faustino [UNIFESP]; Santos, Normelia Jesus dos [UNIFESP]; Massaro, Ayrton Roberto [UNIFESP]; Figueiredo, Maria Stella [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Stroke is a serious complication of sickle cell anemia (SCA) affecting children and adults. Recent reports suggested that tumor necrosis factor-alpha (TNF-alpha) (-308) polymorphism is an important risk factor for stroke in children with SCA. the role of TNF-alpha polymorphism in the frequency of brain magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) abnormalities in adults with SCA is still uncertain. Our objective was to evaluate the frequency of INF-alpha polymorphism in adults with SCA and to correlate it to brain MRI and MRA findings. TNF-alpha (-308) polymorphism was determined in 49 adults with SCA. All subjects were evaluated with brain MRI/MRA to establish the presence of intracranial abnormalities. Thirty-three (67.3%) had abnormal brain MRA scans, 8 (16.3%) had intracranial stenosis and 29 (59.2%) showed arterial tortuosity. Forty-one (83.7%) had the GG genotype and 8 had the GA genotype. There was no correlation between homozygosity for G allele and MRA or MRI abnormalities. Although INF-alpha (-308) polymorphism is a potential predictor of the genetic risk for stroke in children, we found no association between the polymorphism and large vessel abnormalities in adults with SCA. Copyright (C)2010 S. Karger AG, Basel
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    Antibody persistence after serogroup C meningococcal conjugate vaccine in children with sickle cell disease
    (Elsevier Sci Ltd, 2016) Souza, Alessandra R. [UNIFESP]; Maruyama, Claudia M.; Safadi, Marco Aurelio P.; Lopes, Marta H.; Azevedo, Raymundo S.; Findlow, Helen; Bai, Xilian; Borrow, Ray; Weckx, Lily Y. [UNIFESP]
    Background: A decline of protective antibody titers after MCC vaccine has been demonstrated in healthy children, this may be an issue of concern for risk groups. The aim of this study was to evaluate the persistence of bactericidal antibodies after MCC vaccine in sickle cell disease (SCD) patients. The type of vaccine used and booster response were also analyzed. Methods: SCD patients (n = 141) previously immunized with MCC vaccines had blood drawn 2-8 years after the last priming dose. They were distributed according to age at primary immunization into groups: <2 years and 2-13 years and evaluated by years since vaccination (2-3, 4-5 and 6-8). Serum bactericidal antibodies with baby rabbit complement (rSBA) and serogroup C-specific IgG concentrations were measured. The correlate of protection was rSBA titer >= 8. Subjects with rSBA <8 received a booster dose and antibody levels re-evaluated after 4-6 weeks. Results: For children primed under 2 years of age rSBA titer >= 8 was demonstrated in 53.3%, 21.7% and 35.0%, 2-3, 4-5, 6-8 years, respectively, after vaccination, compared with 70.0%, 45.0% and 53.5%, respectively, for individuals primed at ages 2-13 years. rSBA median titers and IgG median levels were higher in the older group. Six to eight years after vaccination the percentage of patients with rSBA titers >= 8 was significantly higher in the group primed with MCC-TT (78.5%) compared with those primed with MCC-CRM197 [Menjugate (R) (33.3%) or Meningitec (R) (35.7%)] (p = 0.033). After a booster, 98% achieved rSBA titer >= 8. Conclusion: Immunity to meningococcal serogroup C in SCD children declines rapidly after vaccination and is dependent on the age at priming. Booster doses are needed to maintain protection in SCD patients. Persistence of antibodies seems to be longer in individuals primed with MCC-TT vaccine comparing to those immunized with MCC-CRM197. (C) 2016 Elsevier Ltd. All rights reserved.
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    Avaliação comportamental e eletrofisiológica do processamento auditivo central de indivíduos com doença falciforme
    (Universidade Federal de São Paulo, 2023-11-27) Lopes, Rhayane Vitória [UNIFESP]; Gil, Daniela [UNIFESP]; Braga, Josefina Aparecida Pellegrini [UNIFESP]; http://lattes.cnpq.br/7645872510889651; http://lattes.cnpq.br/6363626867862971; https://lattes.cnpq.br/9303534901538821
    Objetivo: Avaliar o processamento auditivo central de indivíduos com doença falciforme. Métodos: Estudo de corte transversal com crianças portadoras de doença falciforme. As crianças realizaram a avaliação comportamental e eletrofisiológica do processamento auditivo central utilizando dez testes especiais para a avaliação comportamental, sendo eles o Teste de Fala com Ruído, Identificação de Sentenças Sintéticas, Dicótico Consoante-Vogal, Dicótico de Dígitos, Random Gap Detection Test, Masking Level Difference, Padrão de Frequência, Localização Sonora, Memória Sequencial para Sons Verbais e Não Verbais. Para a avaliação eletrofisiológica da audição utilizou-se os Potenciais Evocados Auditivos de Curta e Longa Latência. Foi realizada estatística descritiva e para verificar a validade de constructo dos testes aplicados uma análise fatorial confirmatória. Resultados: Um total de 28 sujeitos foram avaliados, sendo 18 meninas e dez meninos com média de 9,46 anos. Um total de 85,7% das crianças apresentou Transtorno do Processamento Auditivo Central. Os participantes apresentaram um maior índice de alteração para as habilidades auditivas de figura fundo para sons verbais em tarefa de atenção dividida e ordenação temporal complexa para sons não verbais. No potencial de longa latência todos os sujeitos apresentaram normalidade do componente P3. No potencial de curta latência 32,1% e 28,6% dos sujeitos apresentaram resultados alterados para as orelhas direita e esquerda, respectivamente. Dois modelos fatoriais de análise fatorial combinatória foram criados com base na teoria existente da literatura. No modelo 2, os testes que contribuíram significativamente para a formação do fator PAC foram o Teste de Localização Sonora, Memória Sequencial Não Verbal, Fala com Ruído e Dicótico Consoante-Vogal. Todas as variáveis observadas contribuíram significativamente para a formação do fator PEATE. Houve uma relação estatisticamente significativa entre os fatores PAC e PEATE. Conclusão: Indivíduos com doença falciforme apresentam transtorno do processamento auditivo central, identificado primordialmente pela avaliação comportamental.
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    Avaliação da compatibilidade eritrocitária para reduzir a aloimunização em mulheres portadoras de Anemia Falciforme
    (Universidade Federal de São Paulo, 2022-08-09) Muniz, Janaina Guilhem [UNIFESP]; Castro, Rodrigo de Aquino [UNIFESP]; Afonso, José Sebastião; Armoni, Carine Prisco [UNIFESP]; http://lattes.cnpq.br/7648657607184737; http://lattes.cnpq.br/2871873991164532; http://lattes.cnpq.br/6590913930590292; http://lattes.cnpq.br/3557517617714755
    Introdução: A anemia falciforme (AF) é a hemoglobinopatia mais frequente no Brasil e afeta principalmente indivíduos de origem africana. Na anemia falciforme, a gestação possui um risco materno fetal elevado e a transfusão sanguínea é parte integrante do tratamento de gestantes com anemia falciforme, entretanto, múltiplas transfusões estão associadas ao desenvolvimento de aloanticorpos contra antígenos eritrocitários. A aloimunização eritrocitária é uma complicação comum em pacientes com AF que recebem transfusões terapêuticas e tem um impacto maior na gravidez, levando a um risco aumentado de doença hemolítica do feto e do recém-nascido (HDFN) e reduzindo a disponibilidade de sangue para mulheres grávidas com AF. Portanto, inicialmente pretendemos definir o perfil genotípico e fenotípico dos pacientes falciformes do sexo feminino, incluindo a identificação das variantes Rh e dos antígenos de alta e baixa frequência e comparar com o perfil dos doadores de sangue, determinar quais possuem um perfil fenotípico compatível com as pacientes falciformes e ainda determinar os principais antígenos que devem ser compatibilizados para evitar a aloimunização e reações transfusionais. Métodos: Cento e cinquenta e três pacientes do sexo feminino com AF e trezentos e sete doadores negros autodeclarados foram selecionados para este estudo. As amostras foram genotipadas para antígenos de células vermelhas clinicamente significativos por SNaPshot e as variantes de RH foram investigadas usando PCR multiplex, PCR-RFLP e sequenciamento. A presença de anticorpos irregulares no soro dos pacientes foi investigada por teste de aglutinação em cartão gel. As necessidades de transfusão dos pacientes durante o período de um ano e o número de doadores compatíveis foram avaliados usando três protocolos de transfusão de compatibilidade de antígeno: hemácias compatíveis com antígeno CEK profilático, hemácias compatíveis com antígeno estendido profilático e concentrados de hemácias compatíveis com antígeno estendido apenas para pacientes aloimunizados. Além disso, a correspondência molecular de RH foi proposta para pacientes portadores de variantes RHCE. Resultados: Foram encontradas variantes de RhCE em 15% dos pacientes e em 13% dos doadores de sangue. Nenhum paciente com variantes RhCE desenvolveu aloanticorpos contra o sistema RH. Foi observada a necessidade do aumento de doadores RhD negativos devido à presença de D parcial em 10 pacientes. O fornecimento de doadores compatíveis com o antígeno CEK foi possível em 92,4% dos eventos de transfusão, enquanto o fornecimento de hemácias compatíveis com o antígeno estendido profilático cobriu 88,7% dos eventos de transfusão. Acompatibilidade estendida para pacientes aloimunizados foi eficiente em 99% dos casos. Considerando 5 pacientes com genótipos RHCE alterados em ambos os alelos, apenas um paciente não conseguiu receber unidades de hemácias compatíveis. Conclusão: Em brasileiros, devido a alta miscigenação da população, a triagem de doadores afrodescendentes permite a implementação de protocolos profiláticos transfusionais para CEK e compatibilização de fenotipagem estendida para pacientes do sexo feminino com AF para reduzir a aloimunização de eritrócitos e reações transfusionais, no entanto, ainda temos uma deficiência no suporte transfusional de sangue compatível em pacientes com variantes Rh.
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    Características polissonográficas de adultos com doença falciforme
    (Universidade Federal de São Paulo (UNIFESP), 2018-08-30) Pedro, Ana Carolina Cabanas [UNIFESP]; Figueiredo, Maria Stella [UNIFESP]; Roizenblatt, Suely Steinschreiber [UNIFESP]; http://lattes.cnpq.br/3666475159211385; http://lattes.cnpq.br/0736747630522639; http://lattes.cnpq.br/2741873650312243
    The pathophysiology of sickle cell disease (SCD) is centered on the polymerization capacity of hemoglobin S when deoxygenated, in erythrocytes with reduced deformability and consequent vasoocclusion and hemolysis. The presence of hypoxemia and apnea during sleep is related to clinical manifestations in children with SCD. Our objective was to identify sleep disorders in adults with SCD and to verify a possible relation with the severity of the disease. We studied 100 SCD patients (81 with sickle cell anemia - SS, 19 with hemoglobinopathy SC – SC). We evaluated clinical parameters (pulmonary hypertension - PH and previous manifestation of acute chest syndrome - ACS and stroke), laboratorial data (CBC, reticulocytes, lactate dehydrogenase - LDH, bilirubin and iron profile), polysomnography data (PSG), and oxyhemoglobin saturation (sat oxiHb) during PSG and in wakefulness. The mean age of the patients was 31.7 ± 11.3 years, 58% belonged to the female gender and 62% were on hydroxyurea treatment. Sleep apnea / hypopnea was present in 24% of the patients, most of them mild form, with no difference according to genotype (23% in SS vs. 26% in SC). The total time of sleep and sleep efficiency were lower in subjects with PH (p<0.01 and p=0.04, respectively) and ACS (p=0.06 and p=0.04, respectively). Patients with ACS also had longer N2 time (p<0.01) and shorter N3 time (p<0.01). Patients presented high periodic limb movements indexes (13.8 ± 15.2) and this manifestation was related to hemolysis parameters (indirect bilirubin and reticulocytes), suggesting an association with SCD severity. LDH presented an inverse correlation with sat oxiHb: basal (r=-0.61, 95% CI:-0.73,-0.47, p<0.01); mean (r=-0.61, 95% CI:-0.73,-0.48, p<0.01); wakefulness (r=-0.55, 95% CI:-0.71,-0.35, p <0.01). Comparing subjects with SS and SC, the former had worse sleep efficiency (p=0.04) and lower sat oxiHb indexes during PSG: basal sat oxiHb (SS 90, we observed that those with low sat oxiHb had lower hemoglobin (8.3 ± 1.3 vs. 9.8 ± 1.6, p <0.01) and higher LDH (650 ± 240 vs. 365 ± 155, p<0.01), suggesting a higher degree of hemolysis in these patients. Despite some limitations, this study presents important and previously unobserved aspects in relation to sleep disorders in adults with SCD and reinforces the importance of sleep evaluation in this group of individuals.
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    The clinical impact of MTHFR polymorphism on the vascular complications of sickle cell disease
    (Associação Brasileira de Divulgação Científica, 2006-10-01) Moreira Neto, F. [UNIFESP]; Lourenco, Dayse Maria [UNIFESP]; Noguti, Maria Aparecida Eiko [UNIFESP]; Morelli, V.m. [UNIFESP]; Gil, I.c.p. [UNIFESP]; Beltrão, A.c.s. [UNIFESP]; Figueiredo, Maria Stella [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Sickle cell disease (SCD) is one of the most common inherited diseases in the world and the patients present notorious clinical heterogeneity. It is known that patients with SCD present activation of the blood coagulation and fibrinolytic systems, especially during vaso-occlusive crises, but also during the steady state of the disease. We determined if the presence of the factor V gene G1691A mutation (factor V Leiden), the prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism may be risk factors for vascular complications in individuals with SCD. We studied 53 patients with SCD (60% being women), 29 with SS (sickle cell anemia; 28 years, range: 13-52 years) and 24 with SC (sickle-hemoglobin C disease; 38.5 years, range: 17-72 years) hemoglobinopathy. Factor V Leiden, MTHFR C677T polymorphism, and prothrombin G20210A variant were identified by PCR followed by further digestion of the PCR product with specific endonucleases. The following vascular complications were recorded: stroke, retinopathy, acute thoracic syndrome, and X-ray-documented avascular necrosis. Only one patient was heterozygous for factor V Leiden (1.8%) and there was no prothrombin G20210A variant. MTHFR 677TT polymorphism was detected in 1 patient (1.8%) and the heterozygous form 677TC was observed in 18 patients (34%, 9 with SS and 9 with SC disease), a prevalence similar to that reported by others. No association was detected between the presence of the MTHFR 677T allele and other genetic modulation factors, such as alpha-thalassemia, ß-globin gene haplotype and fetal hemoglobin. The presence of the MTHFR 677T allele was associated with the occurrence of vascular complications in SCD, although this association was not significant when each complication was considered separately. In conclusion, MTHFR C677T polymorphism might be a risk factor for vascular complications in SCD.
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    Comparative study of the growth and nutritional status of Brazilian and Nigerian school-aged children with sickle cell disease
    (Oxford Univ Press, 2017) Adegoke, Samuel A. [UNIFESP]; Figueiredo, Maria S. [UNIFESP]; Adekile, Adekunle D.; Braga, Josefina A. P. [UNIFESP]
    Background: Comparative studies of patients in different sociogeographic/ecological zones may unravel potential environmental and nutritional factors influencing disease phenotype. In sickle cell disease (SCD), differential access to comprehensive care may influence their growth and nutritional status. Methods: From June 2015 to February 2016, steady-state nutritional parameters of 109 Brazilian and 95 Nigerian children with SCD attending routine clinic visits at Universidade Federal de Sao Paulo, Brazil and Obafemi Awolowo University Teaching Hospital, Ile-Ife (Ilesa unit), respectively, were compared. Results: A relatively high proportion of the children in both centres (23.5%) were wasted [body-mass index (BMI)-for-age z-score<-2). BMI-for-age z-score, height-for-age z-score, upper arm fat area and fat percentage were lower in the Nigerian cohorts. More Nigerians, 29.5% (28/95) against 18.3% (20/109) were wasted, and had short stature, [12.6% (12/95) vs. 3.7% (4/109)] than Brazilians. A higher proportion of Brazilian patients were overweight or obese (9.2 vs. 4.3%), and taller for age (15.6 vs. 8.4%). None of the Nigerian patients had severe vitamin D deficiency, only 12.6% (12/95) had suboptimal vitamin D and 1.1% (1/95) had low serum zinc levels, unlike 79.8% (87/109) of the Brazilian patients with suboptimal vitamin D and 10.1% (11/109) with low zinc. Conclusion: Undernutrition is still prevalent among the two cohorts. Nigerian patients were thinner and had reduced linear growth for age. This observation justifies the continued need for specialized nutritional care for children with SCD. In addition to hydroxyurea therapy, research is needed to determine appropriate nutritional intervention and exercise regimens for these children.
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    Impaired pubertal development and testicular hormone function in males with sickle cell anemia
    (Elsevier B.V., 2015-01-01) Martins, Paulo Roberto Juliano [UNIFESP]; Kerbauy, José [UNIFESP]; Moraes-Souza, Helio [UNIFESP]; Pereira, Gilberto de Araujo; Figueiredo, Maria Stella [UNIFESP]; Verreschi, Ieda Therezinha do Nascimento [UNIFESP]; Univ Fed Triangulo Mineiro; Universidade Federal de São Paulo (UNIFESP)
    Changes in weight/height ratio, delayed sexual maturation, hypogonadism and impaired fertility have been demonstrated in sickle cell disease (SCD). This study aimed to evaluate the clinical and laboratory views of the Leydig cells function after stimulation with hCG in adults with sickle cell disease. We studied 15 patients with SCD (18 to 40 years; median = 27 years old), fourteen homozygous S, and one with SC disease. the control group, composed by adult males, was divided into two groups: I-10 relatives (18-39 years, median = 26 years) with the same socioeconomic level of the patients, and II-9 normal individuals (23-28, median = 31 years) randomly chosen. Clinically it was observed a slight degree of malnutrition, important puberty delay, rarefaction of chest, underarm and pubic hair, and important reduction of the testis and penis size, featuring a mild hypogonadism in patients with SCD. the hormonal level assessment of testosterone at baseline and at 24,48 and 72 h after hCG stimulation showed no significant differences between the groups studied. We can presume that adult men with SCD showed clinical hypoandrogenism with normal testicular hormonal function, a fact inconsistent with the hypothesis of primary hypogonadism. (C) 2014 Elsevier Inc. All rights reserved.
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    Medidas gerais no tratamento das doenças falciformes
    (Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular, 2007-09-01) Braga, Josefina Aparecida Pellegrini [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    This article presents the most important measures in the care of patients with sickle cell disease, which is characterized by a high morbimortality rate. Effective preventive measures including newborn screening, education of patients and caregivers, nutrition support, protective vaccinations and prophylaxis using penicillin to prevent pneumococcal, contribute to a decrease in the morbimortality as well as to improve the quality of life of these patients.
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    Qualidade de vida em portadores de doença falciforme
    (Universidade Federal de São Paulo (UNIFESP), 2011-11-24) Menezes, Adeline Soraya de Oliveira da Paz [UNIFESP]; Len, Claudio Arnaldo [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Objective. 1) To evaluate the quality of life in children and adolescents with sickle cell disease attending the Blood Center reference. 2) To evaluate the quality of life of relatives of these patients. Method. We selected 100 patients (64 female, 34 male) with sickle cell disease that were divided into three subgroups with age: 5 to 7 (n = 18), 8-12 (n = 32) and 13 to 18 (n = 20), and their parents. The control group was 50 healthy children and adolescents from a public school local, also divided into the same three subgroups of age and their caregivers. The Questionnaire Pediatric Quality of life Inventory - PedsQL version 4.0 was applied in both groups - children and adolescents, in the family was applied the generic questionnaire Medical Outcomes Study 36 - Item Short-Form Health Survey (SF-36). The answers were linearly transformed into a score and compared. Results: The scores of patients were significantly lower than the scores of the control group (p <0.0001) in all four areas studied (physical, emotional, social and school activities). In the version for parents was the same in almost all respects, with the loss of quality of life more meaningful (more than 50%) were related to the socio-emotional, mental health, limited by the physical appearance and general state of health. Conclusion: Sickle cell disease affects the quality of life of children, adolescents and their families. Patients perceive restrictions in the emotional, social / family and physical and others.
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    Relationship between serum 25-hydroxyvitamin D and inflammatory cytokines in paediatric sickle cell disease
    (Academic Press Ltd- Elsevier Science Ltd, 2017) Adegoke, Samuel Ademola [UNIFESP]; Smith, Olufemi Samuel; Adekile, Adekunle D.; Figueiredo, Maria Stella [UNIFESP]
    Background. Alteration in the concentration of inflammatory cytokines may contribute to pathogenesis in sickle cell anaemia (SCA). Vitamin D may suppress pro-inflammatory cytokines and enhance anti-inflammatory cytokines. Objective: To compare steady state levels of pro-and anti-inflammatory cytokines of Nigerian SCA children with age-and sex-matched healthy controls, and determine the relationship with 25-hydroxyvitamin-D (25-OHD). Effects of three months of vitamin D supplementation on cytokines of SCA children with suboptimal 25-OHD were also evaluated. Methods: Serum 25-OHD, IL-113, 2, 6, 8, 11, 12, 13, 17, 18 of 95 SCA children and 75 matched controls were determined using HPLC. The 12 SCA children with suboptimal 25-OHD received 2000 IU of vitamin D daily for 3 months, and their post supplementation cytokines and 25-OHD levels were compared with the baseline values. Results: IL-2, 6, 8, 12, 17 and 18 were higher in SCA children than the controls (p <= 0.001), but no significant variation in IL-11 and 13 (p = 0.131 and 0.057 respectively). Patients with suboptimal serum 25-OHD had higher IL-6, 8 and 18 (p = 0.003, 0.010 and 0.002 respectively) and lower levels of IL-11 (p = 0.005). Significant positive treatment effects were observed: post-supplementation, serum 25-OHD increased by 23.3 ng/mL, p < 0.001
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    Remembering the forgotten non-communicable diseases
    (Biomed Central Ltd, 2014-10-22) Lopez, Alan D.; Williams, Thomas N.; Levin, Adeera; Tonelli, Marcello; Singh, Jasvinder A.; Burney, Peter G. J.; Rehm, Juergen; Volkow, Nora D.; Koob, George; Ferri, Cleusa P. [UNIFESP]; Univ Melbourne; Univ London Imperial Coll Sci Technol & Med; KEMRI Wellcome Trust Res Programme; Univ British Columbia; VA Med Ctr; Univ Alabama Birmingham; Mayo Clin; Ctr Addict & Mental Hlth; Tech Univ Dresden; Univ Toronto; UofT; NIDA; NIAAA; Hosp Alemao Oswaldo Cruz; Universidade Federal de São Paulo (UNIFESP)
    The forthcoming post-Millennium Development Goals era will bring about new challenges in global health. Low- and middle-income countries will have to contend with a dual burden of infectious and non-communicable diseases (NCDs). Some of these NCDs, such as neoplasms, COPD, cardiovascular diseases and diabetes, cause much health loss worldwide and are already widely recognised as doing so. However, 55% of the global NCD burden arises from other NCDs, which tend to be ignored in terms of premature mortality and quality of life reduction. Here, experts in some of these 'forgotten NCDs' review the clinical impact of these diseases along with the consequences of their ignoring their medical importance, and discuss ways in which they can be given higher global health priority in order to decrease the growing burden of disease and disability.