Likelihood-based concordance tests for analysis of ascertained twin pair multinomial data.

The classic twin model design has a wide application in human genetics. Under the assumption that nongenetic effects are shared to the same degree by monozygotic (MZ) and dizygotic (DZ) twin pairs, a test of the equality of casewise concordances between MZ and DZ twins provides a clue to the influence of genetic and environmental factors on a disease. The casewise concordance is the conditional probability that given that one member of a twin pair is affected, the other is also affected.

Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.

Mutations in the OTOF gene have been found to be common causes of auditory neuropathy (AN) in Caucasians. However, the prevalence and spectrum of OTOF mutations in other populations have been inadequately documented. To explore the genetic characteristics of East Asian patients with AN, we screened for mutations in the OTOF gene by direct sequencing in 22 unrelated Taiwanese AN families (including 2 multiplex and 20 simplex families) and looked for genotype-phenotype correlations.

Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment.

Objectives/hypothesis: To develop a cost-effective and robust genetic diagnostic tool for patients with idiopathic nonsyndromic sensorineural hearing impairment.

Study Design: Development of a diagnostic tool and validation in a prospective cohort.

Methods: Twenty common sequence variants in GJB2, SLC26A4, and the mitochondrial 12S rRNA gene were selected based on our previous epidemiological study.

Emergency endoscopy for upper gastrointestinal bleeding in patients with coronary artery disease.

Background: Endoscopy is useful for diagnosis and treatment of upper gastrointestinal bleeding (UGIB). However, both endoscopy and UGIB may compromise the cardiovascular function. The present study is to investigate the cardiovascular responses of emergency endoscopy for patients with UGIB and stable coronary artery disease (CAD).