OBJETIVO: Descrever os principais resultados do programa de triagem neonatal para a doença falciforme do Estado do Rio de Janeiro em 15 meses de funcionamento (agosto de 2000 a novembro de 2001). ...MÉTODOS: A partir de agosto de 2000, amostras de sangue passaram a ser coletadas de todos os recém-nascidos atendidos em postos de atenção básica à saúde no Estado para triagem neonatal da doença falciforme. Essas amostras são submetidas a cromatografia líquida de alta resolução. Se o cromatograma resultante for compatível com a doença falciforme, a criança e seus pais são encaminhados para confirmação diagnóstica e tratamento. RESULTADOS: De agosto de 2000 a novembro de 2001, 99 260 recém nascidos participaram da triagem. Houve um caso de homozigose para Hb C. Um em cada 27 recém-nascidos triados pelo programa apresentou o traço falciforme (Hb AS). A doença falciforme foi constatada em 83 casos (um caso novo para cada 1 196 nascimentos): 62 Hb S, 18 Hb SC, 3 Hb SD. Uma criança não compareceu para confirmação diagnóstica. As 82 crianças acompanhadas apresentaram 15 intercorrências (infecções de vias aéreas superiores, febre, seqüestro esplênico, síndrome mão-pé e crises de vaso-oclusão), motivando sete internações. Houve necessidade de transfusão sangüínea em 15 crianças, mas nenhuma tornou-se alo-imunizada. Os demais bebês estão evoluindo satisfatoriamente com o uso de penicilina profilática. CONCLUSÕES: Nossos dados evidenciam a importância do diagnóstico precoce da doença falciforme, de forma a prevenir e evitar as freqüentes complicações infecciosas enfrentadas por esses pacientes.
Sickle cell disease is the most common monogenic hereditary disease in Brazil. Although strokes are one of the main causes of morbidity and mortality in these patients, the use of transcranial ...Doppler to identify children at risk is not universally used.
To develop Brazilian guidelines for the use of transcranial Doppler in sickle cell disease children and adolescents, so that related health policies can be expanded, and thus contribute to reduce morbidity and mortality.
The guidelines were formulated in a consensus meeting of experts in transcranial Doppler and sickle cell disease. The issues discussed were previously formulated and scientific articles in databases (MEDLINE, SciELO and Cochrane) were carefully analyzed. The consensus for each question was obtained by a vote of experts on the specific theme.
Recommendations were made, including indications for the use of transcranial Doppler according to the sickle cell disease genotype and patients age; the necessary conditions to perform the exam and its periodicity depending on exam results; the criteria for the indication of blood transfusions and iron chelation therapy; the indication of hydroxyurea; and the therapeutic approach in cases of conditional transcranial Doppler.
The Brazilian guidelines on the use of transcranial doppler in sickle cell disease patients may reduce the risk of strokes, and thus reduce the morbidity and mortality and improve the quality of life of sickle cell disease patients.
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Previous issue date: 2011
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Ensino. Programa de Pós-Graduação em Saúde da Criança e da Mulher. Rio de Janeiro, RJ, Brasil
O desconhecimento do grupo sanguíneo RhD fetal durante o período ;
gestacional faz com que gestantes RhD-negativo tenham o mesmo ;
acompanhamento pré-natal independente do feto ser RhD-positvo ou RhD-negativo. Assim, gestantes sem risco para o desenvolvimento de Doença ;
Hemolítica Perinatal (DHPN) são mantidas no pré-natal de alto risco ;
aumentando a taxa de ocupação destes serviços e dificultando a oferta para ;
aquelas que realmente necessitariam de assistência especializada. Um método ;
atual, não invasivo, a genotipagem RhDa partir do DNA fetal livre no plasma ;
materno permite o conhecimento do grupo sanguíneo fetal antes do ;
nascimento possibilitando excluir do pré-natal de alto risco gestantes com fetos ;
sem risco para a DHPN (fetos RhD-negativos). ;
Este estudo objetiva mapear o Fluxo da assistência pré-natal, em ;
especial de gestantes RhD-negativo, no Município do Rio de Janeiro visando ;
analisar a viabilidade da incorporação da genotipagem RhDa partir do DNA ;
fetal livre no plasma materno na rotina pré-natal de gestantes RhD-negativo ;
acompanhadas no SUS. ;
Esta análise foi realizada aplicando o método de Planejamento ;
Estratégico Situacional (PES) proposto por Carlos Matus. O método PES prevê ;
quatro momentos para o processamento dos problemas. O Momento ;
explicativo prevê o diagnóstico situacional, O momento normativo formula os ;
objetivos e o prazo para executá-los, o Momento estratégico analisa a ;
viabilidade dos planos e os atores envolvidos no processo e o momento ;
operacional estabelece a execução dos planos e a avaliação das mudanças.;
Concluímos que a implantação da genotipagem RhDfetal utilizando o ;
DNA livre no plasma materno e a PCR em tempo real, no SUS, é factível. O ;
cenário atual é extremamente favorável. A preocupação das três esferas do ;
governo com a assistência integral à saúde materna e infantil promove um ;
leque de investimentos amplos neste segmento. A possível ação conjunta entre ;
o governo e as instituições públicas, com expertise em desenvolvimento de ;
métodos diagnóstico como Biomanguinhos, possibilitaria a implantação desta ;
tecnologia para diferentes segmentos da saúde pública no Brasil.
The lack of knowledge about the Rhblood group during the pregnancy ;
period make the D-negative pregnant women have the same prenatal follow-up ;
whether the fetal blood type isD positive or D-negative. ;
In this way, pregnant women without risk to develop Hemolytic Disease ;
of newborn (HDN) are kept in High Risk Prenatal Care increasing the ;
occupancy rate of the assistance servicesdecreasing the viability for who those ;
really need it. Nowadays a non-invasive method, the RHD genotyping using ;
free-fetal DNA from maternal plasma allows the fetal blood group knowledge ;
before the birth. This makes possible to exclude from High Risk Prenatal Care, ;
pregnant women with fetus without HDN risk. This study aims the ;
understanding of prenatal care flow of D-negative pregnant women in Rio de ;
Janeiro city trying to check the viability of the introduction of RHD genotyping ;
test using free-fetal DNA from maternal plasma in the D-negative pregnant ;
women in prenatal care public service. This analysiswas made using strategic-situational approach of CarlosMatus. There are four (4) moments of strategic ;
planning, according to Carlos Matus.The analytical moment describes the ;
stage of formulation of initial situation (diagnosis), the Normative Moment ;
designs the aims and defines the strategy of action. The Strategic Moment ;
analyzes the actors enrolled in the process and the viability of plans. The ;
Operational Moment establishes the execution of plans and evaluates the ;
changes. ;
In conclusion, the introduction of RHD genotyping test in free-fetal DNA ;
from maternal plasma using real-time PCR, in public services, is factual. ;
Brazil’s Health Ministry is working on improving the public health system. ;
The government issues about full assistance to women and children promote ;
wide investments in this heath area. ;
Actions joining both government and public institutions with expertise as ;
Biomanguinhos would make possible the development of different diagnoses ;
methods in health care in Brazil.
To describe the main results obtained in the first 15 months of neonatal screening for sickle cell disease in the state of Rio de Janeiro, Brazil, from August 2000 to November 2001.
Starting in ...August 2000, blood samples began to be collected for sickle cell disease screening from all newborns receiving care in primary health care clinics in the state of Rio de Janeiro. The samples were submitted to high-resolution liquid chromatography. If the resulting chromatogram was compatible with sickle cell disease, the child and the parents were referred for diagnostic confirmation and treatment.
Between August 2000 and November 2001, 99 260 newborns were screened. There was one case of homozygous Hb C. On average, one of every 27 newborns who were screened presented sickle cell trait (Hb AS). Sickle cell disease was observed in 83 cases, or one new case in each 1 196 births. The 83 consisted of: 62 Hb S, 18 Hb SC, and 3 Hb SD. One child did not appear for diagnostic confirmation. The 82 children who were followed up by the program presented 15 intercurrent illnesses (upper respiratory infections, fever, splenic sequestration crises, hand-foot syndrome, and vascular occlusion), resulting in seven hospital admissions. Blood transfusions were necessary with 15 children, but none developed alloimmunization. All the other babies were doing well with the use of prophylactic penicillin.
Our data show the importance of early diagnosis for sickle cell disease, so as to prevent the frequent infectious complications faced by these patients.
Convalescent plasma is a potential therapeutic option for critically ill patients with coronavirus disease 19 (COVID-19), yet its efficacy remains to be determined. The aim was to investigate the ...effects of convalescent plasma (CP) in critically ill patients with COVID-19.
This was a single-center prospective observational study conducted in Rio de Janeiro, Brazil, from March 17th to May 30th, with final follow-up on June 30th. We included 113 laboratory-confirmed COVID-19 patients with respiratory failure. Primary outcomes were time to clinical improvement and survival within 28 days. Secondary outcomes included behavior of biomarkers and viral loads. Kaplan-Meier analyses and Cox proportional-hazards regression using propensity score with inverse-probability weighing were performed.
41 patients received CP and 72 received standard of care (SOC). Median age was 61 years (IQR 48-68), disease duration was 10 days (IQR 6-13), and 86% were mechanically ventilated. At least 29 out of 41CP-recipients had baseline IgG titers ≥ 1:1,080. Clinical improvement within 28 days occurred in 19 (46%) CP-treated patients, as compared to 23 (32%) in the SOC group adjusted hazard ratio (aHR) 0.91 (0.49-1.69). There was no significant change in 28-day mortality (CP 49% vs. SOC 56%; aHR 0.90 0.52-1.57). Biomarker assessment revealed reduced inflammatory activity and increased lymphocyte count after CP.
In this study, CP was not associated with clinical improvement or increase in 28-day survival. However, our study may have been underpowered and included patients with high IgG titers and life-threatening disease.
The study protocol was retrospectively registered at the Brazilian Registry of Clinical Trials (ReBEC) with the identification RBR-4vm3yy (http://www.ensaiosclinicos.gov.br).
Blood services in the region of the Americas Alleyre, George A.O.; Periago, Mirta Roses; Ramiro Cruz, José ...
Revista panamericana de salud pública,
02/2003, Letnik:
13, Številka:
2-3
Journal Article
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