Doença falciforme e o efeito modulador da vitamina D em crianças: uma revisão integrativa / Sickle cell disease and the modulating effect of vitamin D in children: an integrative review

INTRODUÇÃO: A deficiência de Vitamina D (VD) é frequente na doença falciforme (DF) em decorrência do status inflamatório crônico, danos renais, endoteliais, hiperhemólise e melanodermia. Atualmente, a suplementação desse nutriente em falcêmicos tem se mostrado importante devido sua ação sistêmica e imunológica. OBJETIVOS: Analisar o impacto da VD em crianças com DF. MÉTODOS: Trata-se de uma revisão integrativa da literatura, onde foram analisados estudos, publicados originalmente em inglês e português, dos últimos dez anos, em humanos, tendo como referência as bases de dados MEDLINE, SciELO e LILACS. A busca foi efetuada mediante a consulta ao MeSH. Os descritores utilizados foram: "children"; "vitamin D"; "sickle cell anemia"; "supplementation". Foram identificados 32 artigos a partir da frase de pesquisa. Ao aplicar os critérios de inclusão, nove artigos foram eleitos para o estudo. RESULTADOS: A partir da análise dos artigos incluídos, 6 avaliaram a prevalência da deficiência de VD em crianças com anemia falciforme e os outros três artigos relataram sobre a suplementação de VD em crianças também com anemia falciforme. Todos os estudos mostraram que as crianças tratadas com reposição de VD tiveram uma diminuição de idas ao pronto-socorro e maior estabilidade hemodinâmica durante os tratamentos. CONCLUSÃO: Outros ensaios clínicos randomizados devem ser realizados para identificar o papel da DV na qualidade de vida e na redução da morbidade falciforme. A contribuição deste artigo é reconhecer que há evidências sobre a vitamina D fora dos ensaios clínicos randomizados.

INTRODUCTION: Vitamin D (VD) deficiency is frequent in sickle cell disease (SCD) due to chronic inflammatory status, kidney and endothelial damage, hyperhemolysis and melanoderma. Currently, the supplementation of this nutrient in sickle cell patients is important due to its systemic and immunological action. Objectives: To analyze the impact of VD in children with SCD. METHODS: This is an integrative literature review, which analyzed studies, originally published in English and Portuguese, in the last ten years, in humans, using the MedLine, SciELO and LILACS databases as References. The search was performed by consulting the MeSH. The descriptors used were: "children"; "vitamin D"; "sickle cell anemia"; "supplementation". 32 articles were identified from the search phrase. When applying the inclusion criteria, nine articles were chosen for the study. RESULTS: Among the included articles, six evaluated the prevalence of VD deficiency in children with sickle cell anemia, and the other three reported on VD supplementation in children with sickle cell anemia. All studies showed that children treated with VD replacement had a decrease in emergency room visits and greater hemodynamic stability during treatments. CONCLUSION: Further randomized controlled trials should be carried out to identify the role of VD in quality of life and in the reduction of sickle cell morbidity. The contribution of this paper is to recognize that there is evidence about vitamin D outside of randomized controlled trials.

Analysis of the costs of the basic care line for sickle cell disease in Brazilian children under 5 years of age

ABSTRACT Objective: To evaluate and estimate the cost of basic care in sickle cell disease (SCD) for patients under five years of age, within the scope of the Unified Health System (SUS) and to discuss the costs related to possible complications of the disease from the literature. Methods: The main management and conduct recommendations in the SCD up to five years of age, with healthy and baseline health status, were extracted from the Basic Guidelines of the Care Line in the SCD of the Ministry of Health. Systematic data regarding costs of medicines were extracted from the Medicine Market Regulation Chamber. The SUS Table of Procedures, Medicines and Orthotics, Prosthetics and Auxiliary Means of Movement Management System was the guide for the values of complementary exams, as well as for medical consultations. The values applied to calculate the vaccination schedule were extracted from the Pan American Health Organization, adopting the perspective of the SUS-paying costs. Results: The total cost obtained for basic care of SCD in children up to five years of age, including the use of antibiotic prophylaxis, immunizations and the performance of transcranial Doppler ultrasound in the prevention and early detection of cerebrovascular accidents was, on average, $1020.96. Conclusion: The cost-effectiveness of prophylaxis in SCD, up to five years of age, exceeds the expenses resulting from hospitalizations due to complications of the disease. The study of expenses associated with SCD could be used to establish public policies, improve prevention strategies and treat the symptoms and complications of the disease.

Estimated glomerular filtration rate in Brazilian adults with sickle cell disease: results from the REDS-III multicenter cohort study.

Chronic kidney disease (CKD) has a significant impact on sickle cell disease (SCD) morbidity and mortality. Early identification of individuals at highest risk of developing CKD may allow therapeutic intervention to prevent worse outcomes. This study aimed to evaluate the prevalence and risk factors for reduced estimated glomerular filtration rate (eGFR) among adults with SCD in Brazil. Participants in the REDS-III multicenter SCD cohort with more severe genotypes aged ≥ 18 years with at least two serum creatinine values were analyzed. The eGFR was calculated using the Jamaica Sickle Cell Cohort Study GFR equation. The eGFR categories were defined according to the K/DOQI. Participants with eGFR ≥ 90 were compared to those with those with eGFR < 90. Among the 870 participants, 647 (74.4%) had eGFR ≥ 90, 211 (24.3%) had eGFR 60 to 89, six (0.7%) had eGFR 30 to 59, and six (0.7%) had ESRD. Male sex (OR: 37.3; 95%CI: 22.4-65.1), higher age (OR: 1.04; 95%CI: 1.02-1.06), higher diastolic blood pressure (OR: 1.03; 95%CI: 1.009-1.06), lower Hb (OR: 0.80; 95%CI: 0.68-0.93), and lower reticulocytes (OR: 0.94; 95%CI: 0.89-0.99) levels were independently associated with eGFR < 90. There was a trend towards higher odds of death in participants with eGFR < 90 (OR: 1.8; 95%CI: 0.95-3.32; p = 0.065). In turn, participants with eGFR < 60 had a 12.2 (95%CI: 2.1-96.9) times higher odds for death when compared to those with eGFR ≥ 60. In this study, eGFR < 90 was observed in one-quarter of adults. Older age, male sex, higher diastolic blood pressure, lower hemoglobin, and lower reticulocyte levels were associated with occurrence of eGFR < 90. Estimated GFR < 60 increased the risk of mortality.

Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci.

Ischaemic stroke is a common complication of sickle cell disease (SCD) and without intervention can affect 11% of children with SCD before the age of 20. Within the Trans-Omics for Precision Medicine (TOPMed), a genome-wide association study (GWAS) of ischaemic stroke was performed on 1333 individuals with SCD from Brazil (178 cases, 1155 controls). Via a novel Cox proportional-hazards analysis, we searched for variants associated with ischaemic stroke occurring at younger ages. Variants at genome-wide significance (p < 5 × 10-8 ) include two near genes previously linked to non-SCD early-onset stroke (<65 years): ADAMTS2 (rs147625068, p = 3.70 × 10-9 ) and CDK18 (rs12144136, p = 2.38 × 10-9 ). Meta-analysis, which included the independent SCD cohorts Walk-PHaSST and PUSH, exhibited consistent association for variants rs1209987 near gene TBC1D32 (p = 3.36 × 10-10 ), rs188599171 near CUX1 (p = 5.89 × 10-11 ), rs77900855 near BTG1 (p = 4.66 × 10-8 ), and rs141674494 near VPS13C (1.68 × 10-9 ). Findings from this study support a multivariant model of early ischaemic stroke risk and possibly a shared genetic architecture between SCD individuals and non-SCD individuals younger than 65 years.

Analysis of the costs of the basic care line for sickle cell disease in Brazilian children under 5 years of age.

OBJECTIVE: To evaluate and estimate the cost of basic care in sickle cell disease (SCD) for patients under five years of age, within the scope of the Unified Health System (SUS) and to discuss the costs related to possible complications of the disease from the literature. METHODS: The main management and conduct recommendations in the SCD up to five years of age, with healthy and baseline health status, were extracted from the Basic Guidelines of the Care Line in the SCD of the Ministry of Health. Systematic data regarding costs of medicines were extracted from the Medicine Market Regulation Chamber. The SUS Table of Procedures, Medicines and Orthotics, Prosthetics and Auxiliary Means of Movement Management System was the guide for the values of complementary exams, as well as for medical consultations. The values applied to calculate the vaccination schedule were extracted from the Pan American Health Organization, adopting the perspective of the SUS-paying costs. RESULTS: The total cost obtained for basic care of SCD in children up to five years of age, including the use of antibiotic prophylaxis, immunizations and the performance of transcranial Doppler ultrasound in the prevention and early detection of cerebrovascular accidents was, on average, $1020.96. CONCLUSION: The cost-effectiveness of prophylaxis in SCD, up to five years of age, exceeds the expenses resulting from hospitalizations due to complications of the disease. The study of expenses associated with SCD could be used to establish public policies, improve prevention strategies and treat the symptoms and complications of the disease.

Hiperpigmentação Mucocutânea Associada à Terapia de Hidroxiureia em Paciente com Trombocitemia Essencial: Relato de Caso / Mucocutaneous Hyperpigmentation Associated with Hydroxyurea Therapy in a Patient with Essential Thrombocythemia: Case Report

Introdução: A hiperpigmentação mucocutânea é uma condição dermatológica que pode estar relacionada a tratamentos quimioterápicos, a exemplo das terapias com uso de hidroxiureia (HU). A HU é um fármaco citostático de amplo uso nas doenças mieloproliferativas e compõe a principal linha de tratamento da trombocitemia essencial (TE). O presente estudo tem por objetivo relatar um caso raro de hiperpigmentação mucocutânea em um paciente com TE. Relato do caso: Paciente do sexo masculino, 68 anos de idade, 89 kg, com diagnóstico de TE, em uso de HU 2 g/dia. Com três meses de terapia, apresentou lesões hiperpigmentadas de coloração acastanhadas em pele das mãos e mucosa oral (língua). Em decisão partilhada com o médico-assistente, o paciente optou pela continuação do uso do medicamento. Após seis anos de acompanhamento, as lesões mantêm-se estáveis. Conclusão: A hiperpigmentação mucocutânea associada à terapia com HU é um evento benigno secundário ao uso do fármaco e não exige a interrupção de uso, porém, sua retirada, ou redução das doses, geralmente leva à diminuição ou ao desaparecimento das lesões.

Introduction: Mucocutaneous hyperpigmentation is a dermatological condition that may be related to chemotherapy treatments, such as therapies using hydroxyurea (HU). HU is a cytostatic drug widely used in myeloproliferative diseases and is the main line of treatment for essential thrombocythemia (ET). The present study aims to report a rare case of mucocutaneous hyperpigmentation in a patient with ET. Case report: Male patient, 68 years old, 89 kg, diagnosed with ET using HU 2 g/day. After three months of therapy, he presented hyperpigmented brownish-colored lesions on the hands and oral cavity (tongue). In a decision shared with the assistant physician, the patient chose to continue using the drug. After six years of follow-up, the lesions remain stable. Conclusion: Mucocutaneous hyperpigmentation associated with HU therapy is a benign event secondary to the use of the drug and does not require discontinuation of use, however, its withdrawal or dose reduction usually leads to the reduction or disappearance of the lesions

Introducción: La hiperpigmentación mucocutánea es una condición dermatológica que puede estar relacionada con tratamientos de quimioterapia, como las terapias con hidroxiurea (HU). La HU es un fármaco citostático ampliamente utilizado en enfermedades mieloproliferativas y es la principal línea de tratamiento de la trombocitemia esencial (TE). El presente estudio tiene como objetivo reportar un caso raro de hiperpigmentación mucocutánea en un paciente con TE. Informe del caso: Paciente masculino de 68 años, 89 kg, diagnosticado de TE mediante HU 2 g/día. A los tres meses de tratamiento presenta lesiones hiperpigmentadas de color pardusco en manos y cavidad oral (lengua). En una decisión compartida con el médico asistente, el paciente optó por continuar usando el medicamento. Tras seis años de seguimiento, las lesiones se mantienen estables. Conclusión: La hiperpigmentación mucocutánea asociada a la terapia con HU es un evento benigno secundario al uso del fármaco y no requiere la suspensión de su uso, sin embargo, su retirada o reducción de dosis suele conducir a la reducción o desaparición de las lesiones.

Hemoglobin S identification in blood donors: A cross section of prevalence

ABSTRACT Introduction: In Brazil, the sickle cell trait (SCT) has an average prevalence of 4% in the general population and 6-10% among Afro-descendants. Although SCT is highly prevalent, a large segment of the population ignores their status. The Therapeutic Guidelines prohibit the transfusion of SCT red blood cells into patients with hemoglobin disorders or severe acidosis and newborns. Methods: This was a cross-sectional study with data from 37,310 blood donation candidates. The study included only eligible first-time donors qualified to be tested for the presence of hemoglobin S (HbS) at the Fundação Hemominas Juiz de Fora, Brazil. The variables studied were gender, skin color, age, type of donation, place of birth, blood type, result of the solubility test for hemoglobin S (HbST) and hemoglobin electrophoresis (HbEF). Statistical analysis was performed using the Q square test and the Kappa index of agreement for comparing biochemical methods. This project was approved by the National Research Ethics Committee. Results: The analysis of first-time donor data showed that 7166 were considered eligible. A total of 127 of the 7166 donors were carriers of SCT (1.77%). Among the blood donors, 73.23% were from the local area. The HbST and HbEF were found to be 100% in concordance. Sensitivity was not tested in the present study. Conclusions: The HbST is highly specific for identifying the HbS, but sensitivity was not tested in this study. The screening of blood donors for abnormal hemoglobins is useful, helping to detect and counsel heterozygous people. The study seeks to identify the prevalence of SCT in a region of Brazil.

Impact of COVID-19 on the efficacy of meeting the transfusion demand by a Brazilian blood banks network.

One of the effects of the pandemic in the hemotherapy services was the reduction in the attendance of blood donors and production of blood components. It is relevant to investigate how the capacity to meet the demand for blood components was affected, especially in blood centers located in the regions most affected by the pandemic, such as Brazil. This study aimed to describe the impact of the pandemic on the capacity to meet the demand for different types of blood components by a Brazilian blood center in 2020, compared to the historical series of 2016-2019 and to discuss the measures adopted to mitigate the effects of the pandemic. Retrospective cross-sectional study was carried out with comparative analysis of the blood components requested and attended in the period from 2016 to 2020. Data analysis was performed by Graphpad Prism 5. The spread of COVID-19 cases since March 2020 had impact on the blood components production and transfusions. The reduction in the production of blood components was observed prior to the restriction measures, in March 2020. In comparison to 2016-2019, there was a reduction in the number of transfusions performed in all months of 2020. The results suggest that the measures adopted in a Brazilian blood center to face the COVID-19 pandemic resulted in reasonable regularity in the supply of blood components. The sharing of experiences between blood banks in different regions, social and epidemiological contexts can contribute to the improvement of strategies to reduce the impact of COVID-19 in transfusion medicine.

Hemoglobin S identification in blood donors: A cross section of prevalence.

INTRODUCTION: In Brazil, the sickle cell trait (SCT) has an average prevalence of 4% in the general population and 6-10% among Afro-descendants. Although SCT is highly prevalent, a large segment of the population ignores their status. The Therapeutic Guidelines prohibit the transfusion of SCT red blood cells into patients with hemoglobin disorders or severe acidosis and newborns. METHODS: This was a cross-sectional study with data from 37,310 blood donation candidates. The study included only eligible first-time donors qualified to be tested for the presence of hemoglobin S (HbS) at the Fundação Hemominas Juiz de Fora, Brazil. The variables studied were gender, skin color, age, type of donation, place of birth, blood type, result of the solubility test for hemoglobin S (HbST) and hemoglobin electrophoresis (HbEF). Statistical analysis was performed using the Q square test and the Kappa index of agreement for comparing biochemical methods. This project was approved by the National Research Ethics Committee. RESULTS: The analysis of first-time donor data showed that 7166 were considered eligible. A total of 127 of the 7166 donors were carriers of SCT (1.77%). Among the blood donors, 73.23% were from the local area. The HbST and HbEF were found to be 100% in concordance. Sensitivity was not tested in the present study. CONCLUSIONS: The HbST is highly specific for identifying the HbS, but sensitivity was not tested in this study. The screening of blood donors for abnormal hemoglobins is useful, helping to detect and counsel heterozygous people. The study seeks to identify the prevalence of SCT in a region of Brazil.

Aspectos da assistência em pacientes com Doença Falciforme no contexto da pandemia da COVID-19 / Aspects of care in patients with Sickle Cell Disease in the context of the COVID-19 pandemic

Introdução: A pandemia determinada pelo novo coronavírus (SarsCoV-2), doença intitulada COVID-19, atingiu mais de 219 países com grande agravo e impacto à saúde mundial. A infecção pelo vírus desencadeia uma resposta imune explosiva, hiperativada e descontrolada, com manifestações clínicas graves em pessoas com doenças subjacentes. A Doença falciforme (DF), uma condição genética que determina imunosupressão, coloca os pacientes em maior risco de infecções respiratórias e complicações pulmonares dentro do contexto da pandemia. Objetivo: Analisar o impacto da COVID-19 em portadores de DF e propor uma diretriz de atendimento a esta população. Métodos: Trata- se de uma revisão sistemática de literatura onde foram analisados estudos, publicados originalmente em inglês, entre março a dezembro de 2020, tendo como referência as bases de dados MedLine, SciELO e LILACS. A busca foi efetuada mediante a consulta ao MeSH com os descritores "sickle cell disease", "covid-19"e "guideline". Foram identificados 64 artigos a partir da frase de pesquisa. Ao aplicar os critérios de inclusão, 7 artigos foram eleitos para o estudo. Resultados e Conclusão: A infecção pelo novo coronavírus pode precipitar intercorrências em pacientes com DF, como crises vaso-oclusivas e síndrome torácica aguda. Considerando esses dados, os autores formularam uma diretriz para orientação e cuidado aos indivíduos com DF

Introduction: The pandemic caused by the new coronavirus (SarsCoV-2), a disease called COVID-19, has reached more than 219 countries with great damage and impact on global health. The viral infection triggers an explosive, hyperactive and uncontrolled immune response, with severe clinical manifestations in people with underlying diseases. Sickle Cell Disease (SCD), a genetic condition that determines immunosuppression, causes patients a greater risk of respiratory infections and pulmonary complications within the context of the pandemic. Objective: To analyze the impact of COVID-19 in patients with SCD and propose a guideline to care for this population. Methods: This is a systematic literature review where studies were analyzed, originally published in English, between March and December 2020, using the MedLine, SciELO and LILACS databases as references. The search was carried out by consulting the MeSH with the descriptors "sickle cell disease", "covid-19" and "guideline". 64 articles were identified from the search phrase. When applying the inclusion criteria, 7 articles were chosen for the study. Results and Conclusion: The infection with the new coronavirus could cause complications in patients with SCD, such as vaso-occlusive crises and acute chest syndrome. Considering these data, the authors formulated a guideline for guidance and care for individuals with SCD.

Impact of COVID-19 in the attendance of blood donors and production on a Brazilian Blood Centres.

BACKGROUND: One of the effects of the coronavirus disease 2019 (COVID-19) pandemic is the risk of shortages in Blood Centres. OBJECTIVES: To verify the impact of the COVID-19 pandemic on the blood donor's attendance and production of blood components in Fundação Hemominas, a Brazilian public institution was formed by several Blood Centres. METHODS: A cross-sectional study was carried out from January to June 2020. Data collected were compared to a historical series from 2016 to 2019. RESULTS: The study showed a reduction in the attendance of blood donors, whole blood collections and blood component production from March 2020, when the first case of COVID-19 was notified in Minas Gerais, Brazil. The results evidenced that Hemominas Blood Centres were affected in a very distinct way by the pandemic with a general mean reduction around 17% in attendance of blood donors and in production of blood components in the period of March to June. On the other hand, the return of blood donors rate increased. CONCLUSION: The reduction in blood donation during the pandemic period was significant, despite the measures adopted. Still, the recruitment of return donors appears to be an important measure to be considered to decrease the pandemic's effect on blood stocks.

Perfil do ambulatório de hematologia em um consórcio intermunicipal de saúde / Hematology outpatient clinic profile at an intercity health consortium

Ao se buscarem práticas de gestão inovadoras que concretizassem os princípios do Sistema Único de Saúde (SUS) no sentido de melhorar o atendimento à população, foram criados os Consórcios Intermunicipais de Saúde (CIS), que tentam disponibilizar o acesso à saúde desde os níveis mais elementares até os mais complexos de atenção terciária e quaternária. A Agência de Cooperação Intermunicipal em Saúde Pé da Serra (Acispes) é um consórcio com 24 municípios que tem como foco a promoção, proteção e recuperação da saúde de suas populações, com a realização de consultas e exames de média e alta complexidade. Foi criada em 1996, como uma associação civil sem fins econômicos, com sede em Juiz de Fora, Minas Gerais, e inaugurou o ambulatório de Hematologia Geral em setembro de 2009, visando atender os pacientes encaminhados da atenção primária. Esta pesquisa tem como objetivo conhecer o perfil epidemiológico dos pacientes e a prevalência de alterações hematológicas atendidas no Ambulatório de Hematologia da ACISPES Juiz de Fora − MG. Trata-se de um estudo transversal descritivo em 460 pacientes, com análise das seguintes variáveis: sexo, idade, procedência e diagnóstico. Os dados foram extraídos do Sistema de Gerenciamento de Recursos em Saúde (SGRS ­ SIG) e analisados por meio de Teste Qui- quadrado. O estudo revelou que a anemia foi a patologia mais prevalente, com 56,7%, seguida de Ao se buscarem práticas de gestão inovadoras que concretizassem os princípios do Sistema Único de Saúde (SUS) no sentido de melhorar o atendimento à população, foram criados os Consórcios Intermunicipais de Saúde (CIS), que tentam disponibilizar o acesso à saúde desde os níveis mais elementares até os mais complexos de atenção terciária e quaternária. A Agência de Cooperação Intermunicipal em Saúde Pé da Serra (Acispes) é um consórcio com 24 municípios que tem como foco a promoção, proteção e recuperação da saúde de suas populações, com a realização de consultas e exames de média e alta complexidade. Foi criada em 1996, como uma associação civil sem fins econômicos, com sede em Juiz de Fora, Minas Gerais, e inaugurou o ambulatório de Hematologia Geral em setembro de 2009, visando atender os pacientes encaminhados da atenção primária. Esta pesquisa tem como objetivo conhecer o perfil epidemiológico dos pacientes e a prevalência de alterações hematológicas atendidas no Ambulatório de Hematologia da ACISPES Juiz de Fora − MG. Trata-se de um estudo transversal descritivo em 460 pacientes, com análise das seguintes variáveis: sexo, idade, procedência e diagnóstico. Os dados foram extraídos do Sistema de Gerenciamento de Recursos em Saúde (SGRS ­ SIG) e analisados por meio de Teste Qui- quadrado. O estudo revelou que a anemia foi a patologia mais prevalente, com 56,7%, seguida de plaquetopenia (14,7%). 67% dos pacientes eram do sexo feminino; a faixa etária predominante foi dos 41 a 50 anos, com 18,3%. O muncípio que mais utilizou o serviço foi Simão Pereira, com 10,6 consultas/1000 habitantes. Conclui-se que a anemia tem alta prevalência na população, as mulheres são as principais usuárias do sistema de saúde e o Consórcio Intermunicipal de Saúde desempenhou importante papel resolutivo nas demandas da Atenção Primária à Saúde.

Seeking innovative management practices that materialize the principles of the Unified Health System (SUS) to improve the service to the population, the Intermunicipal Health Consortia (CIS) were created trying to provide access to health from the most elementary levels, even to the most complex of tertiary and quaternary care. The Intermunicipal Cooperation Agency "Pé da Serra" (Acispes) is a consortium of 24 municipalities, which focuses on the promotion, protection and recovery of health of their populations, with consultations and tests of medium and high complexity. In 1996, it was established as a non-profit civil association, based in Juiz de Fora, Minas Gerais and it opened the General Haematology Clinic in September 2009, to meet the patients referred from primary care. This research has the objective to get to know the epidemiological profile of patients and the prevalence of the pathologies treated at the Hematology Clinic of ACISPES Juiz De Fora ­ MG. This is a descriptive cross-sectional study involving 460 patients analyzing the following variables: gender, age, origin and diagnosis. The data was extracted from the Health Resources Management System (SGRS ­ SIG) and analyzed through the chi-squared test. The study revealed that anemia was the most prevalent pathology, with 56.7%, followed by thrombocytopenia (14.7%).67% of the patients were female; the most prevalent age group was from 41 to 50 years old, with 18.3%. The city that used the services the most was Simão Pereira, with 10.6 consultations per inhabitant. It is concluded that anemia has a high prevalence in the population, women were the main users of the service and the Intercity Health Consortium played an important role in resolving demands of the Primary Health Care.

Health-related quality of life in hemophilia: results of the Hemophilia-Specific Quality of Life Index (Haem-a-Qol) at a Brazilian blood center.

BACKGROUND: Studies on health-related quality of life are based on the increasingly evident need for medical care not to be limited to preventing death, but to focus instead on the value of health. OBJECTIVE: This study aimed to measure the health-related quality of life in hemophilia, using the Hemophilia- Specific Quality of Life (Haem-A-QoL) questionnaire and describe the socioeconomic characteristics and health conditions of these patients. METHODS: The Brazilian version of the Hemophilia-Specific Quality of Life questionnaire was administered to hemophiliac adults, treated in an on-demand regime at the Juiz de Fora Regional Blood Center - HEMOMINAS Foundation. The patients were interviewed about demographic and socioeconomic data and their understanding of the questionnaire. Clinical data were collected from medical records. The Mann-Whitney U test was used for statistical analysis. The level of significance was set for p-values < 0.05. Statistical analysis was performed using the Statistical Package for the Social Sciences (SPSS, version 15.0). RESULTS: Thirty-nine patients were evaluated. The mean age was 36.8 years. 84.6% had hemophilia A; 20.5% of the patients had hemophilia classified as mild, 41% as moderate and 38.5% as severe. The records of 10.5% of the patients registered seropositivity for anti-HIV and 57.9% for anti-HCV. Target joints were detected in 69.2%. The mean total Hemophilia-Specific Quality of Life score was 35.55. 'Sports and leisure'and 'Physical health'were the most impaired dimensions and the dimension 'Relationship and partners'was the least impaired. The Hemophilia-Specific Quality of Life scores showed good discriminant validity for hemophilia severity (p-value = 0.001), HIV-infection (p-value = 0.02), HCV-infection (p-value = 0.01) and the presence of target joints (p-value < 0.001). CONCLUSION: Health-related quality of life in hemophilia, measured by the Hemophilia-Specific Quality of Life questionnaire, was influenced by the presence of arthropathy and infectious diseases transmitted by blood products. Rehabilitation measures should be encouraged in order to improve the quality of life of these patients.

Clinical and functional evaluation of the joint status of hemophiliac adults at a Brazilian blood center.

BACKGROUND: Hemophilia is a potentially disabling condition as hemophilic arthropathy develops early in life and is progressive, especially in patients treated in an on-demand regime. OBJECTIVE: This study aimed to describe the structural joint status and the functional independence score of hemophiliac adults and correlate structural damage with the functional deficits found in these patients. METHODS: Hemophiliacs at the Juiz de Fora Regional Blood Center - HEMOMINAS Foundation, aged 18 years and over and treated in an on-demand regime, were clinically evaluated in respect to structural joint damage using the World Federation of Hemophilia Physical Examination Scale (WFH-PE) and functional deficits using the Functional Independence Score in Hemophilia (FISH). The Spearman rank test was used to evaluate the correlation between the two scores. RESULTS: Thirty-nine patients were evaluated. The mean age was 36.8 years. Target joints were detected in 69.2% of patients studied. The mean Physical Examination Scale and Functional Independence Score were 16.87 and 25.64, respectively. Patients with mild hemophilia showed no significant joint involvement. Patients with severe or moderate hemophilia had similar results regarding structural damage (p-value < 0.001) and functional deficits (p-value = 0.001). There was statistical significance in the correlation between the two scores (r = -0.850; p-value = 0.01). CONCLUSIONS: The World Federation of Hemophilia Physical Examination Scale and Functional Independence Score in Hemophilia may be useful to clinically assess structural joint damage and functional deficits in hemophiliacs as the tools are inexpensive and easy to administer and may be able to detect hemophilic arthropathy, which results from recurrent hemarthrosis and is common in the population studied.

Health-related quality of life in hemophilia: results of the Hemophilia-Specific Quality of Life Index (Haem-a-Qol) at a Brazilian blood center

BACKGROUND Studies on health-related quality of life are based on the increasingly evident need for medical care not to be limited to preventing death, but to focus instead on the value of health. OBJECTIVE This study aimed to measure the health-related quality of life in hemophilia, using the Hemophilia- Specific Quality of Life (Haem-A-QoL) questionnaire and describe the socioeconomic characteristics and health conditions of these patients. METHODS The Brazilian version of the Hemophilia-Specific Quality of Life questionnaire was administered to hemophiliac adults, treated in an on-demand regime at the Juiz de Fora Regional Blood Center - HEMOMINAS Foundation. The patients were interviewed about demographic and socioeconomic data and their understanding of the questionnaire. Clinical data were collected from medical records. The Mann-Whitney U test was used for statistical analysis. The level of significance was set for p-values < 0.05. Statistical analysis was performed using the Statistical Package for the Social Sciences (SPSS, version 15.0). RESULTS Thirty-nine patients were evaluated. The mean age was 36.8 years. 84.6% had hemophilia A; 20.5% of the patients had hemophilia classified as mild, 41% as moderate and 38.5% as severe. The records of 10.5% of the patients registered seropositivity for anti-HIV and 57.9% for anti-HCV. Target joints were detected in 69.2%. The mean total Hemophilia-Specific Quality of Life score was 35.55. 'Sports and leisure'and 'Physical health'were the most impaired dimensions and the dimension 'Relationship and partners'was the least impaired. The Hemophilia-Specific Quality of Life scores showed good discriminant validity for hemophilia severity (p-value = 0.001), HIV-infection (p-value = 0.02), HCV-infection (p-value = 0.01) and the presence of target joints (p-value < 0.001)...

Clinical and functional evaluation of the joint status of hemophiliac adults at a Brazilian blood center

BACKGROUND: Hemophilia is a potentially disabling condition as hemophilic arthropathy develops early in life and is progressive, especially in patients treated in an on-demand regime. Objective: This study aimed to describe the structural joint status and the functional independence score of hemophiliac adults and correlate structural damage with the functional deficits found in these patients. METHODS: Hemophiliacs at the Juiz de Fora Regional Blood Center - HEMOMINAS Foundation, aged 18 years and over and treated in an on-demand regime, were clinically evaluated in respect to structural joint damage using the World Federation of Hemophilia Physical Examination Scale (WFH-PE) and functional deficits using the Functional Independence Score in Hemophilia (FISH). The Spearman rank test was used to evaluate the correlation between the two scores. RESULTS: Thirty-nine patients were evaluated. The mean age was 36.8 years. Target joints were detected in 69.2% of patients studied. The mean Physical Examination Scale and Functional Independence Score were 16.87 and 25.64, respectively. Patients with mild hemophilia showed no significant joint involvement. Patients with severe or moderate hemophilia had similar results regarding structural damage (p-value < 0.001) and functional deficits (p-value = 0.001). There was statistical significance in the correlation between the two scores (r = -0.850; p-value = 0.01). CONCLUSIONS: The World Federation of Hemophilia Physical Examination Scale and Functional Independence Score in Hemophilia may be useful to clinically assess structural joint damage and functional deficits in hemophiliacs as the tools are inexpensive and easy to administer and may be able to detect hemophilic arthropathy, which results from recurrent hemarthrosis and is common in the population studied.

História da triagem neonatalpara doença falciforme no Brasil: capítulo de Minas Gerais / History of newborn screening of sickle cell disease in BraziL: the Minas Gerais state chapter

O "teste do pezinho" é uma estratégia para o diagnóstico precoce de algumas doenças congênitas que são, em sua maioria, imperceptíveis ao exame médico no período neonatal e que, se não diagnosticadas e tratadas precocemente, evoluem com sequelas muitas vezes irreversíveis. A drepanocitose é das doenças hematológicas hereditárias humanas a mais comum e mais estudada em todo o mundo. Os rastreios para recém-nascidos iniciaram-se na década de 50 e a partir da década de 70 começaram a ser instalados em diversos estados brasileiros, porém somente nos anos 90 o programa de triagem neonatal foi ampliado para todo o território nacional. A efetivação do Programa Nacional de Triagem Neonatal foi grande passo para o aumento da sobrevida, redução da hospitalização e das despesas associadas à doença falciforme, as quais representam problema de saúde pública em nosso país. Este artigo apresenta a evolução histórica do processo de criação e implementação da triagem neonatal no Brasil, principalmente em Minas Gerais, e descreve de maneira especial o impacto da doença falciforme em nossa população.

The heel prick test is a strategy aimed at the early diagnosis of some congenital diseases that usually go unnoticed at ordinary medical examinations in the neonatal period and may evolve to cause several irreversible sequelae. Drepanocytosis is one of the most common and studied hematological diseases affecting human beings. The earliest newborn screenings date back to the 1950s, but in Brazil they were first introduced in the 1970, only to be extended to the whole territory in the 1990s. The implantation of the National Newborn Screening Program was a large step to increase patient?s survival and reduce both hospital treatment and sickle cell disease-associated expenses (which represent a significant public health issue in Brazil). This paper reports the historical process of creation and implementation of a newborn screening program in Brazil, especially in the State of Minas Gerais, and also describes the impact of sickle cell disease upon our population.

Doença de Hodgkin primária de parótida: relato de caso e revisão de literatura / Primary Parotid Hodgkin's Lymphoma: case report and literature review

Os linfomas são neoplasias malignas com origem na expansão clonal de células linfoides cujos mecanismos de controle da proliferação celular foram comprometidos. A maior parte dos linfomas se desenvolve em sítioslinfonodais, sendo, portanto, a apresentação extralinfonodal incomum. O linfoma com acometimento da região parotídea, especialmente o Linfoma de Hodgkin, é uma entidade clínico-patológica extremamente rara. Por ser o envolvimento da glândula parótida pelo Linfoma de Hodgkin uma situação incomum, sua inclusão como diagnóstico diferencial das massas parotídeas não é habitual. É apresentado um raro caso de Doençade Hodgkin primária de parótida direita com disseminação ganglionar, sendo realizada revisão de literatura acerca do tema, em artigos publicados até o ano de 2009, nos bancos de dados LILACS e PubMed.

Lymphomas are malignancies originating from the clonal expansion of lymphoid cells, whose cellular proliferation control mechanisms have been impaired. Because most lymphomas develop in nodal sites, extra-nodal presentation is uncommon. Parotid-involving lymphomas, chiefly Hodgkin's lymphomas, are exceedingly rare. Because of the rarity of this presentation, its inclusion in the differential of parotid masses is not usual. We report a rare case of Hodgkin's disease with primary involvement of the right parotid, with further lymph-node spread. For the literature review, we searched the LILACS and PubMed databanks for articles on the topic, published until 2009.

Diagnóstico Histórico da triagem neonatal para doença falciforme / Historical diagnosis of the neonatal screening for sickle cell disease

O transtorno falciforme é a doença hematológica hereditária mais comum no mundo e a Anemia Falciforme é a mais conhecida das alterações hematológicas hereditárias no homem. Este artigo apresenta a evolução histórica do processo de criação e implementação da Triagem Neonatal no Brasil e em partes do mundo. Os rastreios para recém-nascidos iniciaram na década de 50, porém, só a partir da década de 60, os Programas de Triagem Neonatal começaram ser instalados em diversos países. O “Teste do Pezinho” é uma estratégia para o diagnóstico precoce de algumas doenças congênitas que são quase sempre imperceptíveis ao exame médico no período neonatal, mas que evoluem desfavoravelmente, levando ao aparecimento de sequelas muitas vezes irreversíveis. A triagem de hemoglobinopatias é uma análise importante para a prevenção das doenças falcêmicas, as quais representam um problema de Saúde Pública em nosso país. Afinal, estima-se que só no Brasil, existem aproximadamente 10 milhões de indivíduos heterozigotos para os genes das hemoglobinopatias. (AU)

Diagnóstico histórico da triagem neonatal para doença falciforme / Historical diagnosis about neonatal screening for sickle cell disease

O transtorno falciforme é a doença hematológica hereditária mais comum no mundo e a Anemia Falciforme é a mais conhecida das alterações hematológicas hereditárias no homem. Este artigo apresenta a evolução histórica do processo de criação e implementação da Triagem Neonatal no Brasil e em partes do mundo. Os rastreios para recém-nascidos iniciaram na década de 50, porém, só a partir da década de 60, os Programas de Triagem Neonatal começaram ser instalados em diversos países. O "Teste do Pezinho" é uma estratégia para o diagnóstico precoce de algumas doenças congênitas que são quase sempre imperceptíveis ao exame médico no período neonatal, mas que evoluem desfavoravelmente, levando ao aparecimento de sequelas muitas vezes irreversíveis. A triagem de hemoglobinopatias é uma análise importante para a prevenção das doenças falcêmicas, as quais representam um problema de Saúde Pública em nosso país. Afinal, estima-se que só no Brasil, existem aproximadamente 10 milhões de indivíduos heterozigotos para os genes das hemoglobinopatias.

Sickle cell disease is the most common inherited hematological disease worldwide, with sickle cell anemia being the most notorious of inherited hematological diseases of humans. This article presents the historical evolution of the process of creation and implementation of Neonatal Screening in Brazil and parts of the world. Newborn screening began in the 50ïs, but it was only in the 60`s that Programs of Neonatal Screening began in several countries.The "Foot Test" is a strategy for the early diagnosis of congenital diseases that are often imperceptible to the medical examination in the neonatal period, but that have an adverse course, leading to the emergence of generally irreversible sequelae. Hemoglobin screening is an important analysis for the prevention of sickle cell disease, which constitutes a Public Health problem in Brazil, where approximately 10 million individuals heterozygous for hemoglobinnopathy genes are estimated to exist.