ABSTRACT
Objective:To investigate the diagnostic value of cerebrospinal fluid interleukin-6 (IL-6), neuron-specific enolase (NSE) and S100B protein in patients with central nervous system infection.Methods:The clinical data of 78 patients with central nervous system infection (infected group) from October 2015 to February 2019 in the Department of Neurology, Affiliated Hospital of Xuzhou Medical University were retrospectively analyzed. Among the patients, viral meningitis was in 41 cases, tuberculous meningitis was in 23 cases, and purulent meningitis was in 14 cases. Another 100 patients who were admitted to the hospital during the same period for cerebrospinal fluid and other related examinations and excluded central nervous system infection (control group) were selected. Enzyme-linked immunosorbent assay was used to detect the levels of IL-6, NSE and S100B protein.Results:The cerebrospinal fluid levels of IL-6, NSE and S100B protein in infected group were significantly higher than those in control group: 16.70 (8.54, 228.18) ng/L vs. 6.64 (4.96, 8.21) ng/L, 13.62 (11.50, 19.01) μg/L vs. 9.95 (7.54, 12.39) μg/L and 3.07 (0.24, 11.57) μg/L vs. 0.16 (0.12, 0.21) μg/L, and there were statistical differences ( P<0.05). The cerebrospinal fluid levels of IL-6, NSE and S100B protein in patients with tuberculous meningitis were significantly higher than those in patients with viral meningitis and patients with purulent meningitis: 173.30 (13.74, 503.80) ng/L vs. 9.37 (4.80, 113.55) and 89.96 (14.02, 239.60) ng/L, (30.82 ± 14.09) μg/L vs. (12.00 ± 2.33) and (17.62 ± 5.63) μg/L, (18.29 ± 16.05) μg/L vs. (2.12 ± 1.24) and (5.79 ± 4.82) μg/L; the indexes in patients with purulent meningitis were significantly higher than those in patients with viral meningitis, and there were statistical differences ( P<0.05). Conclusions:Cerebrospinal fluid IL-6, NSE and S100B proteins have different expressions in patients with different types of central nervous system infection, and have certain clinical application value for the diagnosis of central nervous system infection.
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic etiology of a patient with classic maple syrup urine disease (MSUD).</p><p><b>METHODS</b>Next-generation sequencing (NGS) was used to screen the exons of BCKDHA, BCKDHB, DBT and DLD genes. Suspected mutations were verified by Sanger sequencing. Bioinformatic analysis was carried out to predict the influence of mutations on the protein structure and function.</p><p><b>RESULTS</b>NGS and Sanger sequencing have detected a c.550delT mutation in exon 5 of the BCKDHB gene in the mother and a c.1046G>A mutation in exon 10 of the BCKDHB gene in the father, while no mutation was found with BCKDHA, DBT and DLD genes. Among these, the c.550delT is a novel mutation. Bioinformatic analysis suggested that the two mutations both located in a highly conserved region and may decrease the activity of branched-chain α-ketoacid dehydrogenase complex through alternation of its structure.</p><p><b>CONCLUSION</b>The compound heterozygous mutations c.550delT and c.1046G>A of the BCKDHB gene probably underlie the clinical manifestations of the patient with classic MSUD.</p>