Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract.

Context: Congenital cataracts are one of the common eye disorders leading to visual impairment or blindness in children worldwide. We found a Chinese family with autosomal dominant pulverulent cataract. Aims: To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited pulverulent cataract. Subjects and Methods: After obtained informed consent, detailed ophthalmic examinations were carried out; genomic DNAs were obtained from seven family members in a three‑generation Chinese family with three affected. All exons of candidate genes were amplified by polymerase chain reaction and were sequenced performed by bidirectional sequencing. Results: By sequencing the encoding regions of the candidate genes, a missense mutation (c. 176C>T) was detected in gap junction protein alpha 3 genes (GJA3), which resulted in the substitution of highly conserved proline by leucine at codon 59 (p.P59L). The mutation co‑segregated with all patients and was absent in 100 normal Chinese controls. Conclusions: The study identified a missense mutation (c. 176C>T) in GJA3 gene associated with autosomal dominant congenital pulverulent cataract in a Chinese family. It gave further evidence of phenotype heterogeneity for P59L mutation in GJA3 associated with congenital cataract.

The imaging study of internal mammary artery and its branches / 中华整形外科杂志

<p><b>OBJECTIVE</b>To investigate the distribution of the internal mammary artery and its branches by the multi-slice spiral CT angiography, and to explore the feasibility of transferring pedicled transverse rectus abdomials myocataneous (TRAM) flap for breast reconstruction through resection of inferior costicartilages.</p><p><b>METHODS</b>30 female patients received abdominal CT angiography. (1) The distance between internal mammary artery and the sternum midline were recorded; (2) The position and the numbers of branches from bilateral internal mammary arteries at the level of 5th, 6th, 7th rib was observed; (3) The points where the superior epigastric artery gets through the rectus abdominis muscle were located.</p><p><b>RESULTS</b>( The average distance between left internal mammary artery to the sternum midline is from 1. 66 cm (0. 62-2. 39 cm ) to 2.34 cm (0.69-3.36 cm) at the level from 4th to 6th intercostal space. The average distance between right internal mammary artery to the sternum midline is from 1.55 cm(0. 66-2. 29 cm) to 2.29 cm(0. 73-3. 67 cm) at the level from 4th to 6th intercostal space; ) The number of branches is the most at the level of 6th intercostal space; (3) There are 235 branches in the superior epigastric artery.</p><p><b>CONCLUSIONS</b>This imaging study of internal mammary artery explores the feasibility of transferring pedicled transverse rectus abdominals myocataneous flap for breast reconstruction. It has important significance in the breast reconstruction using TRAM flap with lengthened pedicle.</p>