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1.
Curr Sports Med Rep ; 17(12): 425-432, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30531459

RESUMO

Children with chronic medical conditions face many challenges when considering sport participation. Compared with their healthy counterparts, they are often discouraged from physical activity or sports participation because of real or perceived limitations imposed by their condition. Prescribed exercise should be based on the demands of the sport, the effect of the disease on performance, and the potential for exercise-induced acute or chronic worsening of the illness or disability. This article will focus on several examples of chronic medical conditions and the clinician's role in providing advice about sport participation.


Assuntos
Doença Crônica/terapia , Pessoas com Deficiência , Exercício , Promoção da Saúde/métodos , Artrite Juvenil/fisiopatologia , Artrite Juvenil/terapia , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/terapia , Paralisia Cerebral/fisiopatologia , Paralisia Cerebral/terapia , Criança , Fibrose Cística/fisiopatologia , Fibrose Cística/terapia , Epilepsia/fisiopatologia , Epilepsia/terapia , Hemofilia A/fisiopatologia , Hemofilia A/terapia , Humanos , Doenças Neuromusculares/fisiopatologia , Doenças Neuromusculares/terapia , Traço Falciforme/fisiopatologia , Traço Falciforme/terapia , Medicina Esportiva
3.
Res Q Exerc Sport ; 88(3): 251-268, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28805553

RESUMO

Participation in organized sport and recreational activities presents an innate risk for serious morbidity and mortality. Although death during sport or physical activity has many causes, advancements in sports medicine and evidence-based standards of care have allowed clinicians to prevent, recognize, and treat potentially fatal injuries more effectively. With the continual progress of research and technology, current standards of care are evolving to enhance patient outcomes. In this article, we provided 10 key questions related to the leading causes and treatment of sudden death in sport and physical activity, where future research will support safer participation for athletes and recreational enthusiasts. The current evidence indicates that most deaths can be avoided when proper strategies are in place to prevent occurrence or provide optimal care.


Assuntos
Traumatismos em Atletas/prevenção & controle , Morte Súbita/prevenção & controle , Arritmias Cardíacas/terapia , Regulação da Temperatura Corporal , Lesões Encefálicas Traumáticas/complicações , Lesões Encefálicas Traumáticas/terapia , Desfibriladores Implantáveis , Serviços Médicos de Emergência/organização & administração , Exercício/fisiologia , Futebol Americano/lesões , Golpe de Calor/prevenção & controle , Golpe de Calor/terapia , Humanos , Hiponatremia/etiologia , Hiponatremia/prevenção & controle , Hiponatremia/terapia , Programas de Rastreamento , Educação Física e Treinamento , Volta ao Esporte , Fatores de Risco , Traço Falciforme/complicações , Traço Falciforme/terapia , Esportes/classificação , Recursos Humanos
4.
Brasília; Ministério da Saúde; dez. 2016. 42 p. ilus, tab.
Monografia em Português | LILACS, PIE | ID: biblio-971877

RESUMO

A doença falciforme é uma das doenças hereditárias mais comuns no mundo. No estado de São Paulo, a incidência de doença falciforme é de um para quatro mil (1:4.000) nascidos vivos. Uma mutação no gene que produz a hemoglobina A origina, por meio de herança recessiva, a hemoglobina S (HbS). Em situações de ausência ou diminuição da tensão de oxigênio, a HbS altera drasticamente a morfologia do eritrócito (forma de foice ou meia lua), causando vaso-oclusão e, consequentemente, isquemia, dor, necrose, disfunções, danos permanentes aos tecidos e órgãos, além de hemólise crônica. Devido às possíveis manifestações logo no primeiro ano de vida, é de suma importância o diagnóstico precoce na triagem neonatal.


Assuntos
Humanos , Adolescente , Anemia Falciforme/prevenção & controle , Anemia Falciforme/terapia , Traço Falciforme/terapia , Saúde do Adolescente , Serviços de Saúde do Adolescente , Medicina do Adolescente , Antidrepanocíticos/uso terapêutico , Assistência Integral à Saúde , Medicina Baseada em Evidências , Adesão à Medicação , Aceitação pelo Paciente de Cuidados de Saúde , Assistência ao Paciente , Planejamento de Assistência ao Paciente
5.
EBioMedicine ; 11: 239-248, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27523807

RESUMO

BACKGROUND: Transfusion of blood at the limits of approved storage time is associated with lower red blood cell (RBC) post-transfusion recovery and hemolysis, which increases plasma cell-free hemoglobin and iron, proposed to induce endothelial dysfunction and impair host defense. There is noted variability among donors in the intrinsic rate of storage changes and RBC post-transfusion recovery, yet genetic determinants that modulate this process are unclear. METHODS: We explore RBC storage stability and post-transfusion recovery in murine models of allogeneic and xenogeneic transfusion using blood from humanized transgenic sickle cell hemizygous mice (Hbatm1PazHbbtm1TowTg(HBA-HBBs)41Paz/J) and human donors with a common genetic mutation sickle cell trait (HbAS). FINDINGS: Human and transgenic HbAS RBCs demonstrate accelerated storage time-dependent hemolysis and reduced post-transfusion recovery in mice. The rapid post-transfusion clearance of stored HbAS RBC is unrelated to macrophage-mediated uptake or intravascular hemolysis, but by enhanced sequestration in the spleen, kidney and liver. HbAS RBCs are intrinsically different from HbAA RBCs, with reduced membrane deformability as cells age in cold storage, leading to accelerated clearance of transfused HbAS RBCs by entrapment in organ microcirculation. INTERPRETATION: The common genetic variant HbAS enhances RBC storage dysfunction and raises provocative questions about the use of HbAS RBCs at the limits of approved storage.


Assuntos
Preservação de Sangue , Transfusão de Eritrócitos , Eritrócitos/metabolismo , Hemólise , Traço Falciforme/sangue , Animais , Preservação de Sangue/efeitos adversos , Ácido Clodrônico/farmacologia , Ácido Clodrônico/uso terapêutico , Modelos Animais de Doenças , Eritrócitos/patologia , Eritrócitos/ultraestrutura , Eritrócitos Anormais/ultraestrutura , Feminino , Hemoglobina A/genética , Hemoglobina A/metabolismo , Humanos , Masculino , Camundongos , Camundongos Transgênicos , Fragilidade Osmótica/genética , Traço Falciforme/mortalidade , Traço Falciforme/terapia , Esplenectomia
6.
Sports Health ; 8(2): 117-25, 2016 Mar-Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26896216

RESUMO

CONTEXT: Sports medicine providers frequently return athletes to play after sports-related injuries and conditions. Many of these conditions have guidelines or medical evidence to guide the decision-making process. Occasionally, however, sports medicine providers are challenged with complex medical conditions for which there is little evidence-based guidance and physicians are instructed to individualize treatment; included in this group of conditions are exertional heat stroke (EHS), exertional rhabdomyolysis (ER), and exertional collapse associated with sickle cell trait (ECAST). EVIDENCE ACQUISITION: The MEDLINE (2000-2015) database was searched using the following search terms: exertional heat stroke, exertional rhabdomyolysis, and exertional collapse associated with sickle cell trait. References from consensus statements, review articles, and book chapters were also utilized. STUDY DESIGN: Clinical review. LEVEL OF EVIDENCE: Level 4. RESULTS: These entities are unique in that they may cause organ system damage capable of leading to short- or long-term detriments to physical activity and may not lend to complete recovery, potentially putting the athlete at risk with premature return to play. CONCLUSION: With a better understanding of the pathophysiology of EHS, ER, and ECAST and the factors associated with recovery, better decisions regarding return to play may be made.


Assuntos
Traumatismos em Atletas/terapia , Exercício/fisiologia , Golpe de Calor/terapia , Volta ao Esporte , Rabdomiólise/terapia , Traço Falciforme/terapia , Tomada de Decisões , Humanos
10.
J Clin Apher ; 29(4): 220-7, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24828305

RESUMO

Automated techniques for red cell [red blood cell (RBC)] exchange or depletion of malignant cells from the peripheral blood have allowed patients with life-threatening conditions to survive long enough to receive definitive treatment. Examples of such conditions include acute chest syndrome in sickle cell disease (SCD) or acute respiratory insufficiency due to leukostasis in acute leukemia. Conversely, other patients with SCD undergo RBC exchanges on a chronic basis to maintain a reasonable quality of life and prevent another stroke. In this review, we will discuss the techniques as well as indications for RBC exchange, leukocytapheresis, and thrombocytapheresis. To illustrate the uses of these therapeutic apheresis procedures, the authors included a summary of the most common diagnoses that comprise their use.


Assuntos
Remoção de Componentes Sanguíneos , Anemia Falciforme/complicações , Anemia Falciforme/terapia , Babesiose/terapia , Remoção de Componentes Sanguíneos/métodos , Plaquetas , Medula Óssea/patologia , Transfusão de Eritrócitos , Hemoglobinopatias/genética , Hemoglobinopatias/terapia , Heterozigoto , Humanos , Procedimentos de Redução de Leucócitos , Leucocitose/terapia , Malária/terapia , Insuficiência de Múltiplos Órgãos/etiologia , Insuficiência de Múltiplos Órgãos/prevenção & controle , Necrose , Células Neoplásicas Circulantes , Parasitemia/terapia , Traço Falciforme/complicações , Traço Falciforme/terapia , Trombocitose/terapia
11.
S Afr Med J ; 104(11): 743-51, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25909112

RESUMO

The spectrum of sickle cell disease (SCD) encompasses a heterogeneous group of disorders that include: (I) homozygous SCD (HbSS), also referred to as sickle cell anaemia; (ii) heterozygous SCD (HbAS), also referred to as sickle cell trait; and (iii) compound heterozygous states such as HbSC disease, HbSß thalassaemia, etc. Homozygous or compound heterozygous SCD patients manifest with clinical disease of varying severity that is influenced by biological and environmental factors, whereas subject with sickle cell trait are largely asymptomatic. SCD is characterized by vaso-occlusive episodes that result in tissue ischaemia and pain in the affected region. Repeated infarctive episodes cause organ damage and may eventually lead to organ failure. For effective management, regular follow-up with support from a multidisciplinary healthcare team is necessary. The chronic nature of the disease, the steady increase in patient numbers, and relapsing acute episodes have cost implications that are likely to impact on provincial and national health budgets. Limited resources mandate local management protocols for the purposes of consistency and standardisation, which could also facilitate sharing of resources between centres for maximal utility. These recommendations have been developed for the South African setting, and it is intended to update them regularly to meet new demands and challenges.


Assuntos
Anemia Falciforme/terapia , Guias de Prática Clínica como Assunto , Gerenciamento Clínico , Doença da Hemoglobina SC/terapia , Manejo da Dor/métodos , Traço Falciforme/terapia , África do Sul
12.
Am J Hematol ; 87(3): 340-6, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22307997

RESUMO

Sickle Cell Trait (HbAS), the heterozygous state for the sickle hemoglobin beta globin gene is carried by as many as 100 million individuals including up to 25% of the population in some regions of the world (World Health Organization, Provisional agenda item 4.8, EB117/34 (22 December 2005) or World Health Organization, Provisional agenda item 11.4 (24 April 2006)). Persons with HbAS have some resistance to falciparum malaria infection in early childhood (Piel FB, Patil AP, Howes RE, et al., Nat Commun 2010;1104:1-7 and Aidoo M, Terlouw DJ, Kolczak M, et al., Lancet 2002;359:1311-1312) and as a result individuals with HbAS living in malarial endemic regions of Africa have a survival advantage over individuals with HbAA. Reports from the US emphasize possible health risks for individuals with HbAS including increased incidence of renal failure and malignancy, thromboembolic disorders, splenic infarction as a high altitude complication, and exercise-related sudden death. The National Heart, Lung, and Blood Institute, National Institutes of Health convened a workshop in Bethesda, Maryland on June 3-4, 2010, Framing the Research Agenda for Sickle Cell Trait, to review the clinical manifestations of HbAS, discuss the exercise-related sudden death reports in HbAS, and examine the public health, societal, and ethical implications of policies regarding HbAS. The goal of the workshop was to identify potential research questions to address knowledge gaps.


Assuntos
Morte Súbita/etiologia , Pesquisa , Traço Falciforme/complicações , Adolescente , África/epidemiologia , Afro-Americanos/estatística & dados numéricos , Atletas , Criança , Pré-Escolar , Morte Súbita/prevenção & controle , Gerenciamento Clínico , Exercício/fisiologia , Feminino , Humanos , Lactente , Masculino , Militares , Músculo Esquelético/fisiopatologia , Neoplasias/etiologia , Neoplasias/prevenção & controle , Gravidez , Complicações na Gravidez , Insuficiência Renal/etiologia , Insuficiência Renal/prevenção & controle , Risco , Traço Falciforme/mortalidade , Traço Falciforme/fisiopatologia , Traço Falciforme/terapia , Infarto do Baço/etiologia , Infarto do Baço/prevenção & controle , Tromboembolia/epidemiologia , Tromboembolia/etiologia , Tromboembolia/prevenção & controle , Trombofilia/tratamento farmacológico , Trombofilia/etiologia , Estados Unidos/epidemiologia
15.
Arq. ciências saúde UNIPAR ; 13(1): 51-54, jan.-abr. 2009. tab
Artigo em Português | LILACS | ID: lil-554416

RESUMO

O traço falciforme associado à alfa-talassemia (AS/α-talassemia) é uma característica rara na população do sul do Brasil. Em função deste e de outros motivos, casos dessa interação são confundidos e muitas vezes subdiagnosticados como sendo de anemia ferropriva, o que pode levar pacientes a tratamentos desnecessários e, muitas vezes prejudiciais à sua saúde. Este trabalho relata o caso de uma paciente de 80 anos de idade que, após participar de um estudo populacional sobre incidência de hemoglobinopatias, descobriu ser portadora da interação AS/α-talassemia. Até então vinha recebendo tratamento para anemia ferropriva, apesar de não apresentar melhora. Este trabalho discute ainda como os índices hematimétricos, associados aos achados eletroforéticos, contribuíram para um diagnóstico diferencial da interação AS/α-talassemia, o que pode auxiliar médicos e profissionais da saúde a um diagnóstico mais preciso, visando à melhoria da qualidade de vida do paciente e, consequentemente, a diminuição da incidência destas doenças genéticas na população.


Sickle cell trait, associated to alpha-thalassemia (AS/α-talassemia), is a rare characteristic in the population living in the South of Brazil. Because of such a rare condition and other reasons, cases of that interaction are confusing and most of the times sub-diagnosed as iron deficiency anemia, thus submitting the disease carrier to unnecessary treatments which, most of the time, are harmful to the patient’s health. The present study reports the case of an 80-year-old patient, who after taking part in a study on the incidence of hemoglobinopathies on population, discovered to carry the interaction AS/α-thalassemia. Up to then the patient had been submitted to treatments to control iron deficiency anemia, although not presenting any improvement. Moreover, the present study discusses how hematimeter indexes, associated to electrophoretic findings, have contributed for a differential diagnosis of AS/α-talassemia interaction, what may aid physicians and health professionals to obtain a more precise diagnosis, aiming at improving the patient’s life-quality, and consequently, leading to a decrease in the incidence of such genetic diseases in the population.


Assuntos
Humanos , Anemia , Hemoglobinopatias , Icterícia , Traço Falciforme/complicações , Traço Falciforme/terapia
17.
Transfus Med ; 16(4): 248-53, 2006 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-16879152

RESUMO

Sickle cell trait (SCT) affects approximately 8% of the population in Martinique (FWI) and about the same rate is found among the African Americans. In several regions of tropical Africa, up to 40% of individuals are also affected. SCT has been characterized as a benign condition and patients are currently asymptomatic or run a benign course. However, life-threatening complications may occur. SCT can be detected in patients hospitalized for various complaints, and SCT likely causes serious morbidity and mortality in some people. Moreover, these clinical observations have been supported by several in vitro studies in which haemoglobin AS red cells showed abnormalities of their filterability. These problems are revisited with the implementation of universal leucoreduction in several countries. The question of the screening of all blood donors for SCT and the use of their red blood cells (RBCs) has yet to be resolved.


Assuntos
Doadores de Sangue , Transfusão de Eritrócitos/normas , Traço Falciforme/terapia , Qualidade de Produtos para o Consumidor , Eritrócitos/patologia , Humanos
18.
J Assoc Physicians India ; 54: 143-7, 2006 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16715620

RESUMO

During last ten years, over 4000 umbilical cord blood transplantations have been performed worldwide. The interest in this modality of transplantation has been growing as this provides easy access to an alternative source of stem cells for treating cancer and serious genetic disorders with otherwise fatal outcome or immense morbidity. Umbilical cord blood is a commonly discarded source of useful stem cells. The outcome of transplantation using cells from this source in children mirrors the results of unrelated donor transplantation and hence the procedure is widely accepted by paediatric transplant community. Results are, however, hampered in adults due to low cell dose. Newer techniques, such as pooled or sequential cord blood transplantation, may help to increase progenitor cell numbers and improve immune reconstitution. In near future, non-haematopoietic uses will make this even more exiting area. In this write-up, we will review this treatment including cord blood banking issues and the ethical concerns. We will discuss both paediatric and adult transplantations including certain new indications.


Assuntos
Transplante de Células-Tronco de Sangue do Cordão Umbilical/métodos , Adulto , Criança , Transplante de Células-Tronco de Sangue do Cordão Umbilical/tendências , Humanos , Traço Falciforme/terapia , Células-Tronco , Talassemia/terapia
19.
Indian J Pediatr ; 72(4): 319-24, 2005 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15876761

RESUMO

Hemoglobinopathies are the most common single gene disorders in man. There are several hundred of these disorders though the thalassemias -- alpha and beta and the sickling disorders make up the vast majority. Recent advances in the understanding of the hemoglobin structure and the genetics of its synthesis has contributed significantly to the understanding of these diseases. Disorders include those with reduced globin synthesis, abnormal globin chains and failure to switch globin chain synthesis at the appropriate age. This review focuses on the clinical features, diagnosis and management strategies of the alpha and beta thalassemias, the sickling disorders and touches on a few rarer hemoglobinopathies. It also emphasizes prevention strategies and chronic transfusion safety in countries like India where there are limited resources.


Assuntos
Hemoglobinopatias , Talassemia , Adulto , Anemia Falciforme/diagnóstico , Anemia Falciforme/genética , Anemia Falciforme/fisiopatologia , Anemia Falciforme/terapia , Transfusão de Sangue , Transplante de Medula Óssea , Criança , Feminino , Aconselhamento Genético , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/genética , Hemoglobinopatias/fisiopatologia , Hemoglobinopatias/terapia , Humanos , Recém-Nascido , Masculino , Fenótipo , Gravidez , Traço Falciforme/diagnóstico , Traço Falciforme/genética , Traço Falciforme/fisiopatologia , Traço Falciforme/terapia , Esplenectomia , Transplante de Células-Tronco , Talassemia/diagnóstico , Talassemia/genética , Talassemia/fisiopatologia , Talassemia/terapia , Talassemia alfa/diagnóstico , Talassemia alfa/genética , Talassemia alfa/fisiopatologia , Talassemia alfa/terapia , Talassemia beta/diagnóstico , Talassemia beta/genética , Talassemia beta/fisiopatologia , Talassemia beta/terapia
20.
Nurs Stand ; 19(32): 52-61; quiz 62, 2005 Apr 20-26.
Artigo em Inglês | MEDLINE | ID: mdl-15875587
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