Albinism in Brazilian common opossums (Didelphis aurita)

Albinism has been sporadically recorded in Virginia opossums (Didelphis virginiana) in the United States and Mexico, but records of pigmentation disorders in other Didelphis spp. are rare. The Brazilian common opossum (Didelphis aurita) is a cat-sized nocturnal omnivorous marsupial that inhabits Atlantic and Araucaria forests in South America. A litter of five young Brazilian common opossums was rescued at Espírito Santo state, southeast Brazil, of which two were albinos (one male, one female) and the remaining had normal pigmentation (three males). The two albinos had a complete lack of integumentary and retinal pigmentation, representing the first recorded cases of albinism in this species (and the first record in a Didelphis sp. other than the Virginia opossum).

Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China

Background Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder most commonly caused by variants in ERCC2. Case presentation Here, we describe the first Chinese patient with a novel variant in ERCC2. A male infant, who was born to a healthy non-consanguineous couple, exhibited brittle hair, hair loss ichthyosis, eczema, retinal pigmentation and hypospadias. He carried a novel heterozygous ERCC2 variant. The maternal variant (c.2191-18_2213del) is a previous described genomic deletion that affects the splicing of intron 22. The paternal variant (c.1666-1G > A), that occurs in the splice site of intron 17 and likely alters ERCC2 gene function through aberrant splicing, has not been reported previously. Conclusions Our case reported a novel pathogenic variant in ERCC2, which expanded the known genetic variants associated with TTD.

Anomalous Angiogenesis in Retina

Age-related macular degeneration (AMD) may cause severe loss of vision or blindness, particularly in elderly people. Exudative AMD is characterized by the angiogenesis of blood vessels growing from underneath the macula, crossing the blood–retina barrier (which comprises Bruch’s membrane (BM) and the retinal pigmentation epithelium (RPE)), leaking blood and fluid into the retina and knocking off photoreceptors. Here, we simulate a computational model of angiogenesis from the choroid blood vessels via a cellular Potts model, as well as BM, RPE cells, drusen deposits and photoreceptors. Our results indicate that improving AMD may require fixing the impaired lateral adhesion between RPE cells and with BM, as well as diminishing Vessel Endothelial Growth Factor (VEGF) and Jagged proteins that affect the Notch signaling pathway. Our numerical simulations suggest that anti-VEGF and anti-Jagged therapies could temporarily halt exudative AMD while addressing impaired cellular adhesion, which could be more effective over a longer time-span.