Acute Respiratory Disease at a Chinese Military Recruitment Training Center: Three-Year Consecutive Investigation

Background Military recruits are at a higher risk of acute respiratory disease(ARD) and the causative agents might change over time, which needs to be investigated. Methods The nasopharyngeal swabs and blood samples were consecutively collected from conscripts for three years in a military training center. The real-time fluorescent quantitative PCR assays were conducted for 15 species of common respiratory pathogens; the serum anti-Legionella pneumophila antibodies were detected by indirect immunofluorescence(IIF) assay, and serum anti-Microplasma pneumoniae antibodies, serum anti-influenza B virus and anti-influenza A virus-Ig M and Ig G were detected by ELISA. Results The prevalences of ARD were 59.3%(108/182) in 2008, 23.3%(50/215) in 2009,and 19.6%(40/204) in 2010. Among the patients with ARD from 2008 to 2010, the influenza B virus infection accounted for 45.4%, 30.0% and 55.0%, and seasonal influenza A virus infection for 8.3%, 8.0% and 5.0%, respectively; the positive rates of serum anti-Legionella pneumophila and anti-Microplasma pneumoniae antibodies in recruits was lower than 10% each year respectively in the three years without diagnostic significance. Conclusion The early appropriate diagnosis and treatment of ARD in military personnel will ensure the power strength of armed forces.

Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia

Background:Although many causative genes of hereditary spastic paraplegia(HSP)have been uncovered in recent years,there are still approximately 50% of HSP patients without genetically diagnosis,especially in autosomal recessive(AR)HSP patients.Rare studies have been performed to determine the genetic spectrum and clinical profiles of recessive HSP patients in the Chinese population.Methods:In this study,we investigated 24 Chinese index AR/sporadic patients by targeted next-generation sequencing(NGS),Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA).Further functional studies were performed to identify pathogenicity of those uncertain significance variants.Results:We identified 11 mutations in HSP related genes including 7 novel mutations,including two(p.V1979_L1980delinsX,p.F2343 fs)in SPG11,two(p.T55 M,p.S308 T)in AP5Z1,one(p.S242N)in ALDH18A1,one(p.D597fs)in GBA2,and one(p.Q486X)in ATP13A2 in 8 index patients and their family members.Mutations in ALDH18A1,AP5Z1,CAPN1 and ATP13A2 genes were firstly reported in the Chinese population.Furthermore,the clinical phenotypes of the patients carrying mutations were described in detail.The mutation(p.S242 N)in ALDH18A1 decreased enzyme activity of P5CS and mutations(p.T55 M,p.S308 T)in AP5Z1 induced lysosomal dysfunction.Conclusion:Our results expanded the genetic spectrum and clinical profiles of AR-HSP patients and further demonstrated the efficiency and reliability of targeted NGS diagnosing suspected HSP patients.