Ocular findings in a case of Pierson syndrome with a novel mutation in laminin beta 2 gene
JOURNAL OF AAPOS
Authors: Arima, Mitsuru; Tsukamoto, Shoko; Akiyama, Rumi; Nishiyama, Kei; Kohno, Ri-Ichiro; Tachibana, Takashi; Hayashida, Akira; Murayama, Miwa; Hisatomi, Toshio; Nozu, Kandai; Iijima, Kazumoto; Ohga, Shouichi; Sonoda, Koh-Hei
Abstract
Pierson syndrome, an autosomal recessive disorder caused by a mutation in laminin B2 (LAMB2) gene, is characterized by congenital nephrotic syndrome and various ocular abnormalities. The ocular findings in Pierson syndrome are not well understood, because the incidence of this syndrome is very rare. We report ocular findings in a 5-month-old boy with Pierson syndrome with a novel mutation in LAMB2. We performed a pupilloplasty for his microcoria. Ophthalmic examinations after surgery revealed that he had cataract, severe retinal degeneration, and high myopia. Optical coherence tomography showed the collapse of retinal layer structures and a marked decrease of choroidal thickness. Immunohistochemistry and electron microscopy examinations revealed abnormal iris differentiation and thinning or defect of basal membranes. These results suggest that the development of the iris, lens, retina, and choroid are affected in this type of mutation.
Novel Biomarker Candidates for Colorectal Cancer Metastasis: A Meta-analysis of In Vitro Studies
CANCER INFORMATICS
Authors: Nguyen Phuoc Long; Lee, Wun Jun; Nguyen Truong Huy; Lee, Seul Ji; Park, Jeong Hill; Kwon, Sung Won
Abstract
Colorectal cancer (CRC) is one of the most common and lethal cancers. Although numerous studies have evaluated potential biomarkers for early diagnosis, current biomarkers have failed to reach an acceptable level of accuracy for distant metastasis. In this paper, we performed a gene set meta-analysis of in vitro microarray studies and combined the results from this study with previously published proteomic data to validate and suggest prognostic candidates for CRC metastasis. Two microarray data sets included found 21 significant genes. Of these significant genes, ALDOA, IL8 (CXCL8), and PARP4 had strong potential as prognostic candidates. LAMB2, MCM7, CXCL23A, SERPINA3, ABCA3, ALDH3A2, and POLR2I also have potential. Other candidates were more controversial, possibly because of the biologic heterogeneity of tumor cells, which is a major obstacle to predicting metastasis. In conclusion, we demonstrated a meta-analysis approach and successfully suggested ten biomarker candidates for future investigation.