Report of a novel missense TDP1 variant in a Pakistani family affected with an extremely rare disorder congenital spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1).

Background: Spinocerebellar ataxia with axonal neuropathy type 1 (OMIM: 607250) is an extremely rare autosomal recessive disorder caused by a mutation in the tyrosyl-DNA phosphodiesterase 1 (TDP1) gene. Only a single missense variant (p.His493Arg) in this gene has been reported.

Development and validation of paper-based strip method for the detection of formalin in milk.

Formalin has been reported to be added to milk to prolong the shelf life of milk. The present study was conducted to develop and validate liquid-phase and paper-based strip methods for the rapid detection of formalin in milk using four different procedures i.e.

DEDTI versus IEDTI: efficient and predictive models of drug-target interactions.

Drug repurposing is an active area of research that aims to decrease the cost and time of drug development. Most of those efforts are primarily concerned with the prediction of drug-target interactions. Many evaluation models, from matrix factorization to more cutting-edge deep neural networks, have come to the scene to identify such relations.

Corneal graft failure: an update.

Corneal graft surgery is one of the most successful forms of human solid-tissue transplantation, and nowadays, there is a worldwide expansion of the surgical volume of corneal grafts. This surgery is continuously evolving, with new surgical techniques and postoperative treatments that have considerably increased the chance of survival for the grafts. Despite the high rate of success, corneal transplantation is still complicated by a relevant risk of graft failure.