Retinitis pigmentosa with iris coloboma due to miR-204 gene variant in a Chinese family.

Purpose: To characterize the phenotype and genotype of a Chinese family with autosomal-dominant retinitis pigmentosa (RP) accompanied by iris coloboma.

Methods: The proband, a 34-year-old male, was examined with his family by using fundus photography, optical coherence tomography (OCT), autofluorescence, and full-field electroretinography (ffERG). Genetic analyses were conducted through whole-exome sequencing (WES) to screen for variations.

The temporal progression of retinal degeneration and early-stage idebenone treatment in the Pde6b mouse model of retinal dystrophy.

Photoreceptor cell death, primarily through apoptosis, related to retinal disorders like retinitis pigmentosa (RP), would result in vision loss. The pathological processes and crucial mutant conditions preceding photoreceptor cell demise are not well understood. This study aims to conduct an in-depth examination of early-stage changes in the widely utilized Pde6b (rd1) mouse model, which has Pde6b gene mutations representing autosomal recessive RP disorder.

Homocysteine, folate, vitamin B12 and B6 in mothers of children with neural tube defects in Xinjiang, China.

Aim: To investigate the maternal homocysteine (Hcy), folate, vitamin B(12) and B(6) , and their relations to neural tube defects (NTDs).

Methods: Thirty mothers of NTDs offspring and another 60 mothers of normal children were enrolled as the patient and control groups from Xinjiang, China, from January 2008 to May 2011. The plasma levels of Hcy, folate, vitamin B(12) and B(6) were measured and compared between the two groups.

[NIR spectrometer for non-destruction measurement of oil contents in a corn seed].

NIR spectromneter for non-destruction measurement of oil contents in an integrated kernel of corn was manufactured. Using LED (light emitting diode) as the light source and six filters as the monochromator, the specifications of the instrument are compared with those of the commercial instruments. The regression coefficient, the standard error, and the relative error of measuring oil contents in an integrated kernel of corn are 0.