Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Introduction: The intravenous administration of lidocaine for postoperative pain control has gained interest. Its administration in the perioperative period and at a low dose reduces postoperative pain and opioid use.
Guillermo Capote Guerrero +4 more
doaj
Caracterización de la Hemorragia digestiva alta en pacientes de cuidado crítico del Hospital Militar Central entre septiembre de 2006 y agosto de 2008 [PDF]
La hemorragia digestiva en los pacientes de cuidado crítico ha sido descrita en la literatura desde los 1980s. Los estudios endoscópicos generalmente indican que aproximadamente 75% a 100% de los pacientes críticamente enfermos presentan lesiones ...
López Valencia, Juan Guillermo
core
Immune Checkpoint Inhibitor–Related Myositis and Associated Triad Overlap Syndrome
Objective Immune checkpoint inhibitor (ICI) myositis is a rare but a highly morbid condition, particularly with the ICI myositis triad syndrome of myositis, myocarditis, and myasthenia gravis. We report the clinical characteristics of ICI myositis and all‐cause mortality in these patients.
Selene Rubino +9 more
wiley +1 more source
Perfusión de furosemida subcutánea como tratamiento paliativo en insuficiencia cardiaca refractaria
Resumen: En la insuficiencia cardiaca terminal los síntomas predominantes habitualmente están relacionados con la congestión; sin embargo, la resistencia a diuréticos vía oral es frecuente y necesita tratamiento parenteral para paliar los síntomas.
Susana del Prado Díaz +4 more
doaj +1 more source
Nuevas tecnologías en el tratamiento de la Diabetes Tipo 1. Papel de enfermería [PDF]
La Diabetes Mellitus tipo 1 (DM1) es una enfermedad metabólica crónica que frecuentemente aparece en la infancia. El número de pacientes con esta patología se encuentra en aumento constante, causando un incremento en la morbilidad y en los costes ...
López González, Lorena
core
Rheumatologic Manifestations of Patients With Type B Insulin Resistance
Objective The objectives of this study were to identify laboratory and clinical features associated with type B insulin resistance (TBIR), a rare condition caused by autoantibodies that inhibit the insulin receptor, most frequently occurring in the setting of systemic lupus erythematosus (SLE), and to increase awareness of this rare, life‐threatening ...
S. Amara Ogbonnaya +4 more
wiley +1 more source
NUEVAS TECNOLOGÿAS EN DIABETES
La tecnología aplicada al manejo de la diabetes ha experimentado notables avances dentro de la última década. Hoy contamos con dispositivos de infusión de insulina subcutánea continua o bombas de insulina, que intentan imitar la secreción fisiológica del
DRA. Pamela Apablaza +3 more
doaj +1 more source
Elinvar Materials: Recent Progress and Challenges
Elinvar materials, exhibiting temperature‐invariant elastic modulus, are critical for precision instruments and emerging technologies. This article reviews recent progress in the field, with a focus on the anomalous thermoelastic behavior observed in key material systems.
Wenjie Li, Yang Ren
wiley +1 more source
Síndrome da infusão do propofol Síndrome de la infusión del propofol Propofol infusion syndrome
JUSTIFICATIVA E OBJETIVOS: A síndrome da infusão do propofol tem sido descrita como uma síndrome rara e quase sempre fatal que ocorre após infusão prolongada desse fármaco.
Fabiano Timbó Barbosa
doaj +1 more source

