RESUMEN
Fucosylation is essential for intercellular and intracellular recognition, cell-cell interaction, fertilization, and inflammatory processes. Only five types of congenital disorders of glycosylation (CDG) related to an impaired fucosylation have been described to date: FUT8-CDG, FCSK-CDG, POFUT1-CDG SLC35C1-CDG, and the only recently described GFUS-CDG. This review summarizes the clinical findings of all hitherto known 25 patients affected with those defects with regard to their pathophysiology and genotype. In addition, we describe five new patients with novel variants in the SLC35C1 gene. Furthermore, we discuss the efficacy of fucose therapy approaches within the different defects.
Asunto(s)
Trastornos Congénitos de Glicosilación/tratamiento farmacológico , Trastornos Congénitos de Glicosilación/genética , Fucosa/uso terapéutico , Proteínas de Transporte de Monosacáridos/genética , Adolescente , Adulto , Niño , Preescolar , Femenino , Fibroblastos/metabolismo , Fibroblastos/patología , Glicoproteínas , Glicosilación , Humanos , Lactante , Masculino , Resultado del Tratamiento , Adulto JovenRESUMEN
BACKGROUND: Serum levels of N-terminal proB-type natriuretic peptide (NT-proBNP) are elevated in patients acute respiratory distress syndrome (ARDS). Recent studies showed a lower incidence of acute cor pulmonale in ARDS patients ventilated with lower tidal volumes. Consequently, serum levels of NT-proBNP may be lower in these patients. We investigated the relation between serum levels of NT-proBNP and tidal volumes in critically ill patients without ARDS at the onset of mechanical ventilation. METHODS: Secondary analysis of a randomized controlled trial of lower versus conventional tidal volumes in patients without ARDS. NT-pro BNP were measured in stored serum samples. Serial serum levels of NT-pro BNP were analyzed controlling for acute kidney injury, cumulative fluid balance and presence of brain injury. The primary outcome was the effect of tidal volume size on serum levels of NT-proBNP. Secondary outcome was the association with development of ARDS. RESULTS: Samples from 150 patients were analyzed. No relation was found between serum levels of NT-pro BNP and tidal volume size. However, NT-proBNP levels were increasing in patients who developed ARDS. In addition, higher levels were observed in patients with acute kidney injury, and in patients with a more positive cumulative fluid balance. CONCLUSION: Serum levels of NT-proBNP are independent of tidal volume size, but are increasing in patients who develop ARDS.
Asunto(s)
Enfermedad Crítica , Péptido Natriurético Encefálico/sangre , Fragmentos de Péptidos/sangre , Respiración Artificial , Síndrome de Dificultad Respiratoria/epidemiología , Volumen de Ventilación Pulmonar/fisiología , Adulto , Anciano , Biomarcadores/sangre , Femenino , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Síndrome de Dificultad Respiratoria/sangre , Factores de Riesgo , Índice de Severidad de la Enfermedad , Equilibrio HidroelectrolíticoRESUMEN
A general practitioner faces regularly soft tissue swelling in otherwise healthy children. Delay in diagnosis of soft tissue malignancies is often due to asymptomatic nature and the unfamiliarity with the age-dependent differential diagnosis. Hence, an accurate knowledge is important to prevent important delay in diagnosis of potential malignancies.