Therapeutic plasma exchange in refractory macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: a case-based review.

Juvenile idiopathic arthritis (JIA) is a heterogeneous group of arthritis of autoimmune aetiology. Systemic-onset juvenile idiopathic arthritis (soJIA) presents with fever, transient erythematous rash, hepatomegaly, splenomegaly, lymphadenopathy, and serositis. SoJIA presents multiple complications, and the most severe is the macrophage activation syndrome (MAS); the timely treatment of MAS must be established early and aggressively to avoid a fatal outcome. Therapeutic plasma exchange has anecdotally been used in refractory cases. A 66-month-old male with a 1-year illness characterized by evening-predominant, intermittent fever, adenomegalies, urticarial-like rash, arthralgia, and arthritis. Biochemical analysis revealed anaemia, leukocytosis, neutrophilia, hypertriglyceridemia, hyperferritinemia, and hypofibrinogenemia; bone marrow aspirate showed hemophagocytosis. He was diagnosed with SoJIA complicated with MAS. He received multiple treatments with IV human gammaglobulin, cyclosporine, dexamethasone, and tocilizumab without improvement. Plasma replacement treatment was performed. Afterwards, he presented significant improvement. After 3-year-follow-up, he remains in good general condition. We present a refractory case of soJIA complicated with MAS successfully treated with plasma exchange.

Medicina transfusional en la pandemia de COVID-19. La visión del Centro Nacional de la Transfusión Sanguínea / Transfusion Medicine in the COVID-19 Pandemic. The vision of the National Center of Blood Transfusion

Resumen La pandemia originada por el coronavirus 2 del síndrome respiratorio agudo grave (SARS-CoV-2) ha sometido a una gran presión a los sistemas de salud de todo el mundo. Experiencias en brotes anteriores nos han enseñado que cuando los sistemas sanitarios se ven desbordados, la mortalidad por enfermedades para las que existen vacunas o tratamientos también puede aumentar drásticamente. Durante el brote de enfermedad por el virus del Ébola de 2014-2015, el exceso de fallecimientos por sarampión, paludismo, virus de inmunodeficiencia humana [VIH]/sida y tuberculosis atribuible al colapso de los sistemas sanitarios superó al de las muertes por ébola. Es por lo anterior que los sistemas de salud deben enfocar sus esfuerzos para mantener la continuidad de la atención de servicios médicos esenciales como son: el programa de vacunación, servicios de salud reproductiva (que incluyan la atención del embarazo, parto y el puerperio inmediato), salud en la infancia y en adultos mayores, enfermedades mentales, enfermedades crónicas no transmisibles (que incluyen cáncer y cardiovasculares), enfermedades infecciosas (VIH), tratamientos hospitalarios críticos, tratamiento de problemas urgentes de salud y servicios auxiliares como el diagnóstico básico por imagen, los servicios de laboratorio y los bancos de sangre. Entonces, un sistema de salud organizado y preparado es un sistema que cuente con la gerencia necesaria para mantener la continuidad de todas aquellas necesidades que requieran a la transfusión sanguínea como parte del tratamiento esencial (procesos oncológicos, atención de la hemorragia obstétrica, urgencias, traumatismos, anemias sintomáticas y cirugías de urgencia) y de aquellas otras situaciones en las cuales la transfusión de sangre o de algún componente se presente como una posible opción para el tratamiento de pacientes con la enfermedad por coronavirus 2019 (COVID-19) (plasma convaleciente en uso de investigación).

Abstract The pandemic caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has put great pressure on health systems around the world. Experiences in previous outbreaks have taught us that when health systems are overwhelmed, mortality from diseases for which there are vaccines or treatments can also increase dramatically. During the 2014-2015 Ebola virus disease outbreak, the excess deaths from measles, malaria, HIV/AIDS, and tuberculosis attributable to the collapse of health systems exceeded that of Ebola deaths. For this reason, health systems should focus their efforts to maintain the continuity of care for essential medical services such as: the vaccination program, reproductive health services - which include care for pregnancy, childbirth and the immediate puerperium. - Health in childhood and the elderly, mental illnesses, chronic non-communicable diseases - including cancer and cardiovascular diseases - infectious diseases such as HIV, critical hospital treatments, treatment of urgent health problems and auxiliary services such as basic imaging diagnosis, laboratory services and blood banks. An organized and prepared health system is a system that has the necessary management to maintain the continuity of all those needs that require blood transfusion as part of essential treatment (oncological processes, care of obstetric hemorrhage, emergencies, trauma, symptomatic anemias and emergency surgeries) and of those other situations in which the transfusion of blood or a component is presented as a possible option for the treatment of patients with coronavirus disease 2019 (COVID-19) (convalescent plasma in research use).

Thawing methods do not affect cell viability of CD45+ and CD34+ cells, but long-term cryopreservation of umbilical cord blood units generally decreases cell viability.

INTRODUCTION: Umbilical cord blood units (UCBUs) are collected and cryopreserved in biobanks for a future transplant. Hematopoietic stem cells and hematopoietic progenitor cells (HSC/HPC) present in UCB can be damaged due to factors such as the cryopreservation process, the thawing process, and prolonged storage time. METHODS: UCBUs (n = 27) were obtained from the Biobank of the National Center of Blood Transfusion (NCBT) from Mexico. They contained three attached segments of UCBU, including 1.0-2.3 × 106 CD34+ cells prior to cryopreservation and were stored during the period from 2003 to 2015. Each UCB segment was thawed with three different methods and CD34 cells, CD45 cells, and 7-AAD were identified by flow cytometry. Furthermore, we carried out CFU assays, and trypan blue staining. RESULTS: Viable CD45+ (vCD45+) cells, vCD34+ cells, CFU, and percentage of E-Clone were not statistically significant among three different thawing methods. The number of vCD45+ and vCD34+ cells diminished in the three thawing methods compared with the same cells prior to their cryopreservation (p < 0.0001). vCD45+ and vCD34+ cells diminished in the ≥10-year cryopreservation group (p < 0.001). In addition, percentage of recovery of vCD45+ and vCD34+ cells diminished in this same group (p = 0.013 and p < 0.0001, respectively). CONCLUSION: The thawing methods did not affect either cell viability (vCD45+ and vCD34+ cells) or pluripotency (CFU, percentage of E-Clone) in attached segments of UCBUs. The ≥10-year cryopreservation time in attached segments of UCBUs alters the number of vCD45+ and vCD34+ cells; however, it does not affect their pluripotency.

Síndrome de Hermansky-Pudlak: Expresión clínica variable en dos casos clínicos / Hermansky-Pudlak syndrome: variable clinical expression in two cases

Introducción. El síndrome de Hermansky-Pudlak es un padecimiento genético caracterizado por albinismo y hemorragias, en grado variable, por alteraciones en la estructura de las plaquetas. Puede presentar alteraciones pulmonares, intestinales o renales. En la literatura se han reportado varias alteraciones genéticas relacionadas a este síndrome. Casos clínicos. Se presentan dos casos. El primero se trató de un adolescente de sexo masculino con albinismo mucocutáneo y afección a nivel renal. Los episodios de sangrado iniciaron después de ser sometido a venopunciones y estudios invasivos. Desarrolló, incluso, un hematoma perirrenal. Después de una sepsis de foco abdominal, presentó hemoperitoneo y hemorragia pulmonar, que precipitó su muerte; el diagnóstico se realizó post mórtem. El segundo caso se trató de una paciente de sexo femenino en quien, desde el periodo de lactancia, se identificó el síndrome por el albinismo mucocutáneo, los episodios de sangrado y los datos de fibrosis pulmonar progresiva, lo que ha limitado su capacidad vital. Conclusiones. El diagnóstico del síndrome, así como el abordaje correcto y temprano pueden evitar el desarrollo de complicaciones o limitar su evolución. Aún es materia de debate si las alteraciones genéticas descritas se asocian a la expresión de alguna manifestación clínica particular.

Background. Hermansky-Pudlak syndrome is a genetic disorder characterized by albinism and bleeding of varying degrees due to alteration in the structure of the platelets. The disorder may be accompanied by pulmonary, intestinal or kidney involvement. Identification of several genetic alterations in this syndrome has been reported. Case reports. We present two cases: the first of an adolescent male with mucocutaneous albinism and renal involvement. Bleeding episodes started after being subjected to invasive studies and venipunctures, developing a perinephric hematoma. After severe sepsis, the patient developed hemoperitoneum and pulmonary hemorrhage, which precipitated the patient's death. Diagnosis was made postmortem. In the second case, a female patient was diagnosed during infancy due to albinism and bleeding episodes, with progressive pulmonary fibrosis that to date has limited her vital lung capacity. Conclusions. Early diagnosis of the syndrome as well as the correct approach may prevent the development of complications or limit the evolution. It is still under debate whether the genetic alterations described are associated with the expression of any particular clinical manifestation.