Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease

Early-onset Alzheimer's disease (EOAD) can be familial (FAD) or sporadic EOAD (sEOAD); both have a disease onset ≤65 years of age. A total of 451 sEOAD samples were screened for known causative mutations in exons 16 and 17 of the amyloid precursor protein (APP) gene. Four samples were shown to be heterozygous for 1 of 3 known causative mutations: p.A713T, p.V717I, and p.V717G; this highlights the importance of screening EOAD patients for causative mutations. Additionally, we document an intronic 6 base pair (bp) deletion located 83 bp downstream of exon 17 (rs367709245, IVS17 83-88delAAGTAT), which has a nonsignificantly increased minor allele frequency in our sEOAD cohort (0.006) compared to LOAD (0.002) and controls (0.002). To assess the effect of the 6-bp deletion on splicing, COS-7 and BE(2)-C cells were transfected with a minigene vector encompassing exon 17. There was no change in splicing of exon 17 from constructs containing either wild type or deletion inserts. Sequencing of cDNA generated from cerebellum and temporal cortex of a patient harboring the deletion found no evidence of transcripts with exon 17 remov

Avoidance of Direct Posterior Portal During Elbow Arthroscopic Surgery in Posterior Compartment

Arthroscopic surgery for the posterior compartment in elbow has been used in the treatment of many pathologies. The direct posterior portal has been commonly used for this compartment. However, this portal involves penetrating the triceps brachii tendon responsible for extensor mechanism. This can possibly lead to poor performance during recovery and portal wound sensation with scar formation. An accessory posterolateral portal can be used as a substitute with adequate viewing and working space in all areas of the posterior compartment. This report describes in detail on how to manage pathologies in the posterior compartment without using direct posterior portal and instead using accessory posterolateral, posterolateral, and direct lateral portals