Construction of diagnostic models with machine-learning algorithms for colorectal cancer based on clinical laboratory parameters.

Background: Colonoscopy remains the predominant diagnostic modality for colorectal cancer (CRC), as the diagnostic performance of tumor markers in alone, particularly in the early stages of the disease, is limited. This study sought to develop a diagnostic model for CRC that integrated various laboratory parameters.

Methods: One hundred patients with CRC were assigned to an experimental group while 114 with benign colorectal diseases and 101 healthy individuals were assigned to a control group.

[c.359T>C mutation of the MYH14 gene in two autosomal dominant non-syndromic hearing impairment families with common ancestor].

Objective: To identify the gene mutation for two Chinese families with autosomal dominant non-syndromic hearing impairment(NSHI).

Methods: Two NSHI pedigrees with common ancestor were identified by clinical examination and family investigation. Linkage analysis was performed for all known NSHI loci, and all exons and exon-intron boundaries of the non-muscle myosin heavy chain 14 (MYH14) gene were amplified by PCR and sequenced.

Identification of NPPA variants associated with atrial fibrillation in a Chinese GeneID population.

Background: A frameshift mutation in the NPPA gene was identified in 1 family with atrial fibrillation (AF), however, further studies are needed to establish unequivocally the genetic association between NPPA and AF.

Methods: A case control association study and mutational analysis of NPPA were performed with 384 sporadic AF patients and 844 controls from a Chinese GeneID population. Genotyping was performed using High-Resolution Melt analysis.