Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta.

High-resolution melting (HRM) analysis has been shown to be a time-saving method for the screening of genetic variants. To increase the precision of the diagnosis of osteogenesis imperfecta (OI), we used HRM to explore COL1A1/COL1A2 mutations in 87 Chinese OI patients and to perform population-based studies of the relationships between their genotypes and phenotypes. Peripheral blood samples were collected from the 87 non-consanguineous probands.

Serum 14-3-3η Could Improve the Diagnostic Rate of Rheumatoid Arthritis and Correlates to Disease Activity.

Objectives: Serum 14-3-3η is a novel joint-derived proinflammatory mediator associated with rheumatoid arthritis (RA). This study aimed to evaluate the diagnostic capacity of serum 14-3-3η and its correlation with clinical variables in patients with RA.

Methods: A total of 94 patients with RA and 80 age- and sex-matched controls, including 40 healthy subjects, were included.

[Genetic mutation and clinical features of osteogenesis imperfecta type V].

Objective: To explore genetic mutations and clinical features of osteogenesis imperfecta type V.

Methods: Clinical record of five patients (including one familial case) with osteogenesis imperfecta type V were retrospectively analyzed. Peripheral blood samples of the patients, one family member, as well as healthy controls were collected.

[Screening and analysis of a new mutation of COL1A1 gene in a family with osteogenesis imperfecta].

Objective: To investigate mutation of COL1A1 gene and analyze the relationship between genotype and clinical phenotype in a family with osteogenesis imperfecta (OI).

Methods: The family history of an OI pedigree, along with clinical data, was collected. Blood samples from the proband and his families, as well as 50 normal controls, were collected.

Effects of Bifidobacterium bifidum on adaptive immune senescence in aging mice.

Bifidobacteria are a natural component of the bacterial flora of the human body and have a symbiotic bacteria-host relationship with human beings. Aging is associated with reduced numbers of beneficial colonic Bifidobacteria and impaired immunity. The possible anti-senescence effects of Bifidobacteria are presently unknown.