The 1G/1G+1G/2G Genotypes of MMP1 rs1799750 Are Associated with Higher Levels of MMP-1 and Are Both Associated with Lipodystrophy in People Living with HIV on Antiretroviral Therapy.

In HIV-infected patients, antiretroviral therapy (ART) is associated to adipose tissue redistribution known as lipodystrophy (LD). This study aimed at verifying the association between the polymorphism of the MMP1 gene (rs1799750) (1G/2G) and the serum levels of matrix metalloproteinase 1 (MMP-1) with LD and its subtypes in people living with HIV on ART. This is a cross-secional study. LD was self-reported. The determination of the MMP1 rs1799750 gene polymorphism was performed by real-time PCR, and the serum concentrations of MMP-1 were quantified by the enzyme-linked immunosorbent assay (ELISA) method. Of 404 participants, 204 (51%) were diagnosed with LD, of whom 89 (43%) had mixed lipodystrophy (ML), 72 (35%) had lipohypertrophy (LH), and 43 (22%) had lipoatrophy (LA). There was an association between the genotypes 1G/1G+1G/2G and higher serum levels of MMP-1 (p = .025). There was no association of MMP1 (1G/2G) with LD. Other factors associated with LD were current CD4 ≤ 350 [odds ratio (OR) = 4.85, confidence interval (CI) = 1.78-47.99, p = .0033] and serum MMP-1 levels >6.81 (OR = 2.67, CI = 1.21-6.08, p = .0165). Factors associated with ML: current CD4 ≤ 350 (OR = 5.59, CI = 1.69-20.39, p = .006); with LH: number of antiretroviral regimens used: 2 (OR = 2.06, CI = 1.01-4.20, p = .0460) and 3+ (OR = 2.09, CI = 1.00-4.35, p = .0477), and current CD4 ≤ 350 (OR = 2.08, CI = 1.00-4.24, p = .0461); and with LA: current viral load >40 (OR = 2.52, CI = 1.03-5.91, p = .0372) and current use of zidovudine (OR = 2.97, CI = 1.32-6.54, p = .0074). Higher levels of MMP-1 were associated with genotypes 1G/2G+1G/1G and with LD. Other individual risk factors were independently associated with LD, and its subtypes, suggesting that the pathogenesis itself is differently manifested for each type of LD.

Caracterização das vítimas de traumatismo encefálico que evoluíram para morte encefálica / Characterization of cranioencephalic traumatism victims who evolved to brain death / Caracterización de las víctimas de traumatismo encefálico que evolucionaron a muerte encefálica

Resumo Introdução O Trauma Cranioencefálico constitui a principal causa de morte, de sequelas irreversíveis nos politraumatizados e tem custo elevado para o poder público, além de estar entre os principais problemas de saúde pública no país. Leva a várias complicações, entre elas a morte encefálica que é definida como a parada total e irreversível das funções cerebrais, sendo incompatível com a vida. Desta forma faz-se necessário uma equipe capacitada e treinada para abordar as vítimas de Trauma Crânioencefálico. Este estudo teve como objetivo descrever os fatores clínicos/ traumáticos presentes nas vítimas de trauma crânioencefálico que evoluíram para morte encefálica. Materiais e Métodos Estudo descritivo, retrospectivo e documental realizado em hospital público de referência do Estado de Pernambuco. Resultados Foram analisados 121 prontuários de vítimas de Trauma Cranioencefálico, no período de janeiro de 2013 a dezembro de 2014. Houve predominância do sexo masculino (83%), na faixa etária de 21-30 anos (34,7%), etiologia do trauma acidentes automobilísticos (35%) seguido de agressão por arma de fogo (21%). Ocorrendo os acidentes aos domingos (27,3%), sendo a maioria Trauma Crânioencefálico grave (78,5%) chegando ao local de atendimento em uso de via aérea definitiva (73,6%). Discussão As vítimas que evoluem para morte encefálica são geralmente homens, em idade produtiva, envolvidos em acidentes automobilísticos graves, com atenção para o aumento da violência por agressão com arma de fogo. Conclusões Essas informações podem auxiliar a prática clínica dos enfermeiros e a elaboração de protocolo de avaliação mais sistematizado para as vítimas de Trauma Crânioencefálico que evoluem para morte encefálica.

Abstract Introduction Cranioencephalic Trauma is the main cause of death and irreversible sequelae in polytraumatized patients, which represents a high cost for the public authorities. This is also one of the main public health problems in the country since it leads to several complications, including brain death, defined as the total and irreversible interruption of brain functions, which is incompatible with life. As a result, it is necessary to have a trained and qualified team to address the victims of Cranioencephalic Trauma. The aim of this study is to describe the clinical/traumatic factors present in Cranioencephalic Trauma victims who evolved to brain death. Materials and Methods Descriptive, retrospective and documentary study carried out in a public hospital of reference in the State of Pernambuco. Results 121 medical records of cranioencephalic trauma victims who evolved to brain death victims were analyzed from January 2013 to December 2014. A predominance of males (83%) was observed in the age range of 21 to 30 years (34.7%), etiology of road traffic trauma (35%), followed by assault with firearms (21%). Accidents occurred on Sundays (27.3%), of which the majority were in severe Cranioencephalic Trauma (78.5%), with patients arriving at the site of care using a definitive airway (73.6%). Discussion The victims who evolve to brain death are generally male, of productive age, involved in serious traffic accidents, with attention to the increase in violence due to aggression by firearm. Conclusions This information may assist in the clinical practice of nurses and in the development of a more systematic assessment protocol for Cranioencephalic Trauma victims who evolve to brain death.

Resumen Introducción El Trauma Craneoencefálico constituye la principal causa de muerte y de secuelas irreversibles en pacientes politraumatizados y representa un alto costo para el poder público, además de estar entre los principales problemas de salud pública del país, dado que conduce a varias complicaciones, entre ellas, la muerte encefálica definida como la interrupción total e irreversible de las funciones cerebrales, lo cual es incompatible con la vida. A raíz de lo anterior, se hace necesario contar con un equipo capacitado y entrenado para abordar a las víctimas de Trauma Craneoencefálico. Este estudio tiene por objeto describir los factores clínicos/traumáticos presentes en las víctimas de trauma craneoencefálico que evolucionaron a muerte encefálica. Materiales y Métodos Estudio descriptivo, retrospectivo y documental realizado en un hospital público de referencia del Estado de Pernambuco. Resultados Se analizaron 121 historias médicas de víctimas de trauma craneoencefálico, en el período comprendido entre enero de 2013 a diciembre de 2014. Se observó predominio del sexo masculino (83%), en el rango de edad de 21 a 30 años (34,7%), etiología del trauma por accidentes de tránsito (35%), seguido de agresión por arma de fuego (21 %). Los accidentes ocurrieron los domingos (27,3%), de los cuales la mayoría correspondió a Trauma Craneoencefálico grave (78,5%), con pacientes que llegaron al lugar de atención utilizando vía aérea definitiva (73,6%). Discusión Las víctimas que evolucionan a muerte encefálica son generalmente hombres, en edad productiva, involucrados en accidentes de tránsito graves, con atención hacia el aumento de la violencia por agresión con arma de fuego. Conclusiones Esta información puede ayudar en la práctica clínica de los enfermeros y en la elaboración de un protocolo de evaluación más sistematizados para las víctimas de Trauma Craneoencefálico que evolucionan a muerte encefálica.

Combined genotypes of the MBL2 gene related to low mannose-binding lectin levels are associated with vaso-occlusive events in children with sickle cell anemia

Abstract Sickle cell anemia (SCA) presents heterogenous clinical manifestations that cannot be explained solely by alterations to hemoglobin (Hb); other components such as endothelial adhesion, thrombosis and inflammation may be involved. The mannose-binding lectin (MBL) has an important role in innate immunity and inflammatory diseases. In this report, we describe an association between MBL2 polymorphism related to low production of serum MBL and the frequency of vasoocclusive events (FVOE) in children ≤ 5 years old with SCA (p = 0.0229; OR 5.55; CI 1.11-27.66). Further studies are needed to explore the role of low MBL2 in the pathophysiology of vasoocclusive events in SCA.

Combined genotypes of the MBL2 gene related to low mannose-binding lectin levels are associated with vaso-occlusive events in children with sickle cell anemia.

Sickle cell anemia (SCA) presents heterogenous clinical manifestations that cannot be explained solely by alterations to hemoglobin (Hb); other components such as endothelial adhesion, thrombosis and inflammation may be involved. The mannose-binding lectin (MBL) has an important role in innate immunity and inflammatory diseases. In this report, we describe an association between MBL2 polymorphism related to low production of serum MBL and the frequency of vasoocclusive events (FVOE) in children ≤ 5 years old with SCA (p = 0.0229; OR 5.55; CI 1.11-27.66). Further studies are needed to explore the role of low MBL2 in the pathophysiology of vasoocclusive events in SCA.