Allogenic bone narrow transplantation in sickle-cell diseases / Transplante alogênico de medula óssea em doenças falciformes

SUMMARY Sickle-cell diseases are the most common inherited hemoglobinopathies worldwide. Improvement in survival has been seen in the last decades with the introduction of careful screening and prevention of complications and the introduction of hydroxyurea. Stem-cell transplantation is currently the only curative option for these patients and has been indicated for patients with neurological events, repeated vaso-occlusive crisis, any organ damage or presence of red blood cell antibodies. Related bone-marrow or cord-blood transplant has shown an overall survival of more than 90% with a disease-free survival of 90% in 1,000 patients transplanted in the last decades. The use of unrelated donors unfortunately has not shown the same good results, but better typing methods and improved support may improve the outcome with this source of stem cells in the future. In Brazil, only recently stem cell transplant from related donors has been included in the procedures performed in the public health system. The use of related bone marrow or cord blood and a myeloablative conditioning regimen are considered standard of care for patients with sickle-cell diseases. Transplants with non-myeloablative regimens, unrelated donors or haploidentical donors should be performed only in controlled clinical trials.

RESUMO As doenças falciformes são as hemoglobinopatias mais frequentes mundialmente. Nas últimas décadas vivenciamos melhora na sobrevida de portadores destas patologias com a introdução de medidas preventivas e o uso precoce da hidroxiurea. O transplante de medula óssea alogênico (alo TMO) é a única opção terapêutica curativa para as hemoglobinopatias. O mesmo tem sido indicado para pacientes com complicações neurológicas, crises vasoclusivas repetidas, alguma lesão orgânica e alosensibilizados. O uso de doadores relacionados de medula óssea ou cordão umbilical mostrou em 1000 procedimentos realizados sobrevida global de 95% e sobrevida livre de ventos de 90%. O uso de doadores não aparentados não mostrou resultados tão expressivos, mas no futuro métodos melhores de tipagem de HLA e de medidas de suporte podem melhorar estes resultados. No Brasil apenas recentemente o alo TMO foi incluído no âmbito do sistema único de saúde (SUS) como opção terapêutica para portadores de doenças falciformes. O uso de doadores aparentados de MO ou de SCU com regime mieloablativo é considerado hoje tratamento estabelecido, sendo que o uso de doadores alternativos não aparentados ou haploidenticos e o uso de transplante com regime não mieloablativo deve ser considerado apenas em estudos clínicos.

Transplante de células-tronco hematopoéticas para a doença falciforme / Hematopoietic stem cell transplantation for sickle cell disease

Tecnologia: Transplante de Células-Tronco Hematopoéticas ­ TCTH. Indicação: Pacientes com algum tipo de \r\ndoença que afeta as células do sangue. Demandante: Secretaria de Atenção à Saúde - SAS/MS. Procedimento: \r\nTransplante de Células-Tronco Hematopoéticas-TCTH (denominado genericamente de transplante de medula \r\nóssea) é um tipo de tratamento proposto, em sua maioria, para algumas doenças que afetam as células do sangue. Consiste na substituição de uma medula óssea doente, ou deficitária, por células normais de medula óssea, com o objetivo de reconstituição da hematopoese. Doença: O termo anemia falciforme é reservado para a forma de doença que ocorre nos homozigotos (SS). O gene da hemoglobina S pode combinar-se com outras anormalidades hereditárias das hemoglobinas, como hemoglobina C e betatalassemia, entre outros, gerando combinações que também são patológicas em conjunto e que são denominadas Doenças Falciformes (DF). A DFé uma das mais frequentes doenças genéticas no Brasil e caracteriza-se pela presença predominante de hemoglobina S que tem a propriedade de formar polímeros quando desoxigenada. Estima-se que 25.000 - 50.000 pessoas tenham a doença em estado homozigótico (SS - anemia falciforme) ou na condição de heterozigotos compostos (SC, SD, SE, Sbetatalassemia - doença falciforme). Recomendação da CONITEC: Recomendar a incorporação da indicação de Transplante de Células-tronco Hematopoéticas em Doença Falciforme no Regulamento Técnico do SistemaNacional de Transplantes. \r\nConsulta Pública: Foram recebidas 284 contribuições na consulta pública a favor da incorporação com \r\npontuais sugestões de complementação, no entanto todos os pontos foram esclarecidos no relatório final. \r\nContudo, as informações recebidas não alteraram a recomendação inicial, pois não foram apresentados fatos ou evidências novas. Deliberação da CONITEC: Os membros da CONITEC, presentes na reunião realizada no dia 6/5/2015, após discutiremos condicionantes deliberaram recomendar a incorporação do transplante de células-tronco hematopoéticas alogênico aparentado para tratamento da doença falciforme, conforme estabelecido pelo Ministério da Saúde. Foi assinado o Registro de Deliberação nº1 19/2015. Decisão: A portaria nº 30, de 30 de junho de 2015 torna pública a decisão de incorporar no âmbito do SUS o transplante de células-tronco hematopoéticas alogênico aparentado para tratamento da doença falciforme, conforme estabelecido pelo Ministério da Saúde. Publicação no DOU nº 143 de 1º de julho de 2015, pág. 49.

Reduction Corporoplasty

Objective Here we present the first video demonstration of reduction corporoplasty in the management of phallic disfigurement in a 17 year old man with a history sickle cell disease and priapism. Introduction Surgical management of aneurysmal dilation of the corpora has yet to be defined in the literature. Materials and Methods: We preformed bilateral elliptical incisions over the lateral corpora as management of aneurysmal dilation of the corpora to correct phallic disfigurement. Results The patient tolerated the procedure well and has resolution of his corporal disfigurement. Conclusions Reduction corporoplasty using bilateral lateral elliptical incisions in the management of aneurysmal dilation of the corpora is a safe an feasible operation in the management of phallic disfigurement. .

Tonsillectomy and adenoidectomy for obstructive sleep apnea in sickle cell anemia.

Objective. To evaluate the effects of Tonsillectomy and Adenoidectomy (T&A) on Obstructive Sleep Apnea (OSA) secondary to Upper Airway Obstruction (UAO) in children with Sickle Cell Disease (SCD). Methods. Twenty eight children with SCD and history of snoring, with or without adeno tonsillar hypertrophy, were evaluated for UAO and OSA. Results. Eight children were confirmed to have OSA by multichannel polysomnography and underwent T&A. Follow up examination showed symptomatic clinical and objective improvement in sleep study parameters in OSA. Conclusions. T&A appears to be a safe, effective option to treat selected patients with OSA due to UAO in SCD children.

Open splenectomy in Jamaican children with sickle cell disease / Esplenectomía abierta en niños jamaicanos con la enfermedad de células falciformes

A total of 110 patients with sickle cell disease who had open splenectomy at the University Hospital of the West Indies over a 10-year period are reviewed Patients with homozygous sickle cell disease numbered 94, S beta0 and S beta+ thalassaemias (11 and 4 respectively) and one patient with SC disease. Postoperative acute chest syndrome was the most common complication (9 of 110). There were no life threatening emergencies and no mortalities. Eleven patients received preoperative blood transfusion and operative times were short averaging 60 minutes among the 110 patients. Open splenectomy remains the gold standard for patients with sickle cell disease requiring splenectomy.

El presente trabajo revisa un total de 110 pacientes con la enfermedad de células falciformes, que fueran sometidos a una esplenectomía abierta en el Hospital Universitario de West Indies, a lo largo de un período de 10 años. Los pacientes con enfermedad de células falciformes homocigóticas fueron 94, con talasemias S b0 y S b+ fueron 11 y 4 respectivamente, y un paciente presentaba la enfermedad por hemoglobina SC. El síndrome torácico agudo postoperatorio resultó ser la complicación más común (9 de 110). No hubo emergencias con riesgo de vida ni mortalidades. Once pacientes recibieron transfusión de sangre en el postoperatorio y los tiempos de operación fueron cortos, con un promedio de 60 minutos entre los 110 pacientes. La esplenectomía abierta sigue siendo la norma de oro para los pacientes con la enfermedad de células falciforme que requieren esplenectomía.

pattern of indications and complications of splenectomy in Eastern Saudi Arabia

The indications for splenectomy have changed over the past decade. Trauma and hematological diseases are emerging as common indications since the early eighties of the last century. This study looks at the pattern of indications and complications of splenectomy at Dammam Central Hospital, Dammam, Eastern Province, Kingdom of Saudi Arabia. A retrospective study of all patients who underwent splenectomy at Dammam Central Hospital over the 5-year period [1996-2000]. There were 55 patients [47 males and 8 females] who underwent splenectomy over the study period. The mean age was 57.5 [range 4-65] years. The most common indication was trauma [43.6%] followed by hematological reasons [25.5%], which were mainly in sickle cell disease [SCD] patients [N=9]. Splenic sequestration crises were the most common indication in SCD patients [77.7%]. The mean weight of the excised spleen was 882.7 [range 85-1350] grams. There were 16 [29%] postoperative complications mostly encountered in patients with portal hypertension [46.2%]. There were 2 deaths [3.6%] as a result of pulmonary embolism in a trauma patient and multi-organ failure in SCD. There was no reported postsplenectomy sepsis after a follow-up period of 18-72 months

Sickle cell disease in pregnancy obstetric and anesthetic management perspectives

Recent advances in the pathophysiology, clinical investigations, and management of sickle hemoglobinopathies enables all physicians to better manage these disease states and their sequelae. Patients with sickle cell disease SCD are living longer and are thus more likely to contract unrelated diseases that require surgery and anesthesia. Patients with SCD continue to be a challenge to all branches of medicine particularly in obstetrics, surgery and anesthesia; however, the armamentarium of new knowledge and practice places a different perspective on the care of this old disease. In general, the literature to date suggests that neither prophylactic transfusion of pregnant sicklers nor the selection of an anesthetic in labor have a major impact on patient outcome; however, perioperative management can greatly affect the consequences. A thorough knowledge of the impact of the disease on clinical status can determine how, when, and why to manage parturients with SCD

Neuroanestesia y Drepanocitosis: reporte de dos casos y revisión de la literatura / Neuroanesthesia and sickle cell disease: case report and literature review

Los autores describen dos casos de pacientes con anemia drepanocítica quienes presentaron hemorragia subaracnoidea por ruptura de aneurisma intracraneal, y fueron llevados a cirugía para su clipaje. Ambos tuvieron una evolución intra y postoperatoria satisfactoria. Se hizo una revisión bibliográfica acerca del manejo médico y anestésico perioperatorio a propósito de esta rara asociación de patologías. El control multidisciplinario de variables tales como hemoglobina, hemoglobina S, hidratación oxigenación, equilibrio ácido base y temperatura entre otras, garantizará la exitosa recuperación de estos pacientes

Continuous intravenous infusion of morphine: a safe and effective method of post-operative analgesia in patients with sickle cell disease

The treatment of pain is one of the most important aspects of post operative care of patients with sickle cell disease. This study focuses on the safety, efficacy and complication rate of continuous intravenous infusion of morphine sulphate in 20 non-ventilated patients following major surgical procedures. Post operative pain was assessed with a linear analogue scale from 1 to 1 0 [1 :not painful, 1 0: worst pain possible] for 2 days following surgery. The patients had a mean age of 23.3 years [range 12 to 52 years] and a mean weight of 49.8 kg [range 30 to 60 kg]. Their mean HbS concentration was 78.86% [range 59.3 to 89.1] and their meanHbF concentration was 22.4% [range 8.8 to 37.3]. The mean intravenous morphine sulphate infusion dose was 10 [micro]g/kg/hour. The mean total morphine sulphate dose was 25 mg over 48 hours [range 8.7-44 mg]. There were no major complications such as respiratory depression except one minor complication in the form of hallucinations. Continuous I. V. morphine infusion is a safe and effective method of post operative pain control in patients with sickle cell disease

Ultimos avances en el tratamiento de la enfermedad de células falciformes (sickle cell disease) / Latest treatment in sickle cell disease

La enfermedad de células falciformes (ECF) es definida como un grupo de desordenes genéticos caracterizados por la presencia de hemoglobina S (Hb S), anemia y daño tisular agudo y crónico. La anemia falciforme es el tipo más común de enfermedad de células falciformes, y es causada por la presencia del gen de blobina Bs en el estado hemocigoto. Por el momento no existe una cura para la anemia falciforme, con la excepción del transplante de médula ósea, que está disponible sólo para un número limitado de individuos. La falta de drogas o tratamientos para cura de la enfermedad de células falciformes es debida en parte a la ausencia de buenos modelos animales. Los modelos de ratones transgénicos para enfermedades falciformes brindan la oportunidad de experimentar con nuevos tratamientos, drogas y agentes anti-sickling para tratar estas enfermedades. Hasta que una cura sea hallada, el tratamiento continuará siendo para las complicaciones asociadas con la enfermedad. Ultimos avances sobre inmunizaciones, penicilina profiláctica, ácido fólico, trental, quelación y terapia de hierro, experimental y otras drogas para el tratamiento de la anemia falciforme son presentados en este artículo.