Tian Gong

Constitutional mismatch repair deficiency presenting with six primary malignancies over nearly 8 years: a case report

Constitutional mismatch repair deficiency (CMMRD) is a rare cancer predisposition syndrome typically manifesting in early childhood. We report an atypical, adult-onset case of CMMRD in a 26-year-old female harboring a homozygous PMS2 germline nonsense mutation (NM_000535.7:c.1738...

A nationwide study of pathogens in hospitalized patients with lower respiratory tract infections by metagenomic next-generation sequencing

ABSTRACT Lower respiratory tract infections remain a major cause of morbidity and mortality, yet timely etiologic diagnosis is difficult because of the breadth of possible pathogens and the limitations of conventional microbiological tests. We retrospectively analyzed 30,819 clin...