Concentración de TNF Alfa, óxido nítrico e interleukinas 1 y 6 en pacientes con sepsis, spsis severa y shock séptico / TNF alpha concentration, nitric oxide and interleukins 1 and 6 in patients with sepsis, septic shock and severe spsis

Sepsis, sepsis severa y shock séptico son cuadros clínicos cuya mortalidad se mantiene elevada a pesar de los avances tecnológicos, y primera causa de muerte en terapia intensiva. Sus manifestaciones clínicas ymorbimortalidad se atribuyen a un incremento desmesurado de citoquinas proinflamatorias, como son el TNF alfa y las IL-1 y 6. El Óxido Nítrico (ON) es quien genera el shock séptico por vasodilatación. El objetivo de este trabajo es evaluar la capacidad de predecir la mortalidad por estas citoquinas, la Proteína C Reactiva (PCR), la metaloproteasa 3 (MMP-3) y el Óxido Nítrico. Se han incluido pacientes varones y mujeres mayores de 18 años que ingresan al Hospital Nacional de Clínicas con criterios de sepsis, sepsis severa y shock séptico. Todos los pacientes han firmado el consentimiento informado y esteprotocolo ha sido aprobado por el Comité de Ética del Hospital. La cuantificación de citoquinas al ingreso de los pacientes al hospital se llevo a cabo por ELISA y el ON por la Reacción de Griess. Hemos hallado que la IL-1 en pacientes que fallecieron fue de 274 pg/ml, estadísticamente superior a los pacientes que sobrevivieron, con 202 pg/ml, con una p=0,028. Los valores de PCR para los sobrevivientes fue de 42,29 mg/dl mientras para los pacientes fallecidos de 104,05 mg/dl, diferencia estadísticamente significativa (p=0,02).

SUMMARY: Sepsis, severe sepsis and septic shock are clinical conditions where mortality remains high despite advances in technology, and leading cause of death in intensive care. Clinical manifestations and morbidity attributable to a disproportionate increase in proinflammatory cytokines. Nitric Oxide (NO) is one who generates vasodilation septic shock. The aim of this study was to evaluate the ability to predict mortality from these cytokines, C-reactive protein (CRP), metalloproteinase 3 (MMP-3) and Nitric Oxide. We included male and female patients over 18 admitted to the Hospital Nacional de Clínicas with sepsis, severe sepsis and septic shock. All patients signed informed consent and this protocol has been approved by the Hospital Ethics Committee. Quantification of cytokines on admission of patients to the hospital was carried out by ELISA and NO by the reaction of Griess. We found that IL-1 in patients who died was 274 pg / ml, statistically higher than patients who survived, with 202 pg / ml, p =0.028. CRP for survivors was 42.29 mg / dl while for patients who died of 104.05 mg / dl, statistically significant difference (p = 0.02).

Síndrome de hiper-IgM en miembros de 2 familias Chilenas no relacionadas: análisis genético- molecular / Hyper-IgM syndrome in members of two unrelated Chilean families: molecular and mutation analysis

BACKGROUND: Hyper-IgM syndronie (HIGM) is a rare primary immunodeficiency used to describe a heterogeneous group of disorders characterized by recurrey bacterial infrctions, normal or elevated serum IgM levels and low or absent serum IgG, IgA and IgE. AIM: To make definitive diagnosis, detect mutations in carriers and perform genetic counseling in patients with HIGM. PATIENTS AND METHODS: We studied the expression of CD40L, CD40 and made a mutation analysis of the CD40L gene in 3 males of 2 unrelated Chilean families diagnosed as a possible syndrome of hyper-IgM and 3 relatives. RESULTS: We identified a deletion frameshift in the exon 2 (delA225) of the extracellular domain of GD40L gene in one patient and verified the carrier stains of his mother and sister. The other patients showed a low expression of GD40L in activated T cells (65.3% ammd 65.5%) and a normal expressiomi of CD40. No alterations were found in the single strand conformation polymorphism analysis of the CD40L. CONCLUSIONS: These result allowed us to make a definite diagnosis of HIGM1 of a patient, detect female carriers and suggest a HIGM of recessive inheritance with normal CD40 expression in the patients of the second family.