AIM: To investigate intracellular free calcium ([Ca 2+ ]i ) alterations in hypothalamus of febrile rabbits induced by endotoxin (ET), and compare with the effect of ET and IL-1? on [Ca 2+ ]i in hypothalamic neurocytes from normothermia rabbits. METHOD: The concentration of [Ca 2+ ]i was determined by using spectrofluorometer and fluorescent Ca 2+ probe fura-2 /Am. RESULTS: 1. A minute dose of ET (2 ng/mL) induced a significant rise in [Ca 2+ ]i in hypothalamic neurocytes from normothermia rabbits. The rise in [Ca 2+ ]i in hypothalamic neurocytes from febrile rabbits induced by intravenous injection of ET was also observed. 2. In hypothalamic neurocytes from normotheria rabbits, IL-1? failed to affect [Ca 2+ ]i at concentrations of 100, 500, 1 000 ng/mL, respectively. CONCLUSION:The action site of low concentration of calcium that plays a regulatory role during fever seems unlikely to be in cytosolic compartment of hypothalamic neurons. The change of [Ca 2+ ]i in hypothalamic neurocytes by ET can not be considered the direct effect of IL-1?.

OBJECTIVE: To explore the genetic basis for a child featuring unexplained rapid growth and heart malformation. METHODS: Whole exome sequencing (WES)was carried out for the patient. Suspected variant was verified by Sanger sequencing and subjected to bioinformatic analysis. RESULTS: The child was found to harbor a novel de novo c.5846_5848delATA (p. N1949del) variant in exon 48 of the FBN1 gene, which was predicted to be pathogenic by Mutation Taster. The patient was ultimately diagnosed with Marfan syndrome. CONCLUSION Above finding has enriched the spectrum of genetic variants associated with Marfan syndrome. WES has provided a powerful tool for the diagnosis of rare diseases.
Child ; Exons ; Fibrillin-1/genetics* ; Heart Defects, Congenital ; Humans ; Marfan Syndrome/genetics* ; Mutation ; Sequence Deletion ; Whole Exome Sequencing