Postmortem Organ Weights at a South African Mortuary.

Background: Weighing organs at autopsy provides objective evidence of pathology. Reference ranges must be locally applicable, accurate, and regularly defined.

Aims: The aims of this study were the generation of postmortem organ weight reference ranges for use in South African mortuaries, analysis of factors influencing organ weights, and comparison to international populations.

Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.

Psoriasis is a common inflammatory disorder of the skin and other organs. We have determined that mutations in CARD14, encoding a nuclear factor of kappa light chain enhancer in B cells (NF-kB) activator within skin epidermis, account for PSORS2. Here, we describe fifteen additional rare missense variants in CARD14, their distribution in seven psoriasis cohorts (>6,000 cases and >4,000 controls), and their effects on NF-kB activation and the transcriptome of keratinocytes.

Genome-wide signatures of 'rearrangement hotspots' within segmental duplications in humans.

The primary objective of this study was to create a genome-wide high resolution map (i.e., >100 bp) of 'rearrangement hotspots' which can facilitate the identification of regions capable of mediating de novo deletions or duplications in humans.

High resolution mapping in the major histocompatibility complex region identifies multiple independent novel loci for psoriatic arthritis.

Objective: Psoriatic arthritis (PsA) has a clear familial predisposition, the major histocompatibility complex (MHC) region being the strongest genetic locus. The study primary objective was to identify single nucleotide polymorphisms (SNPs) independent of known human leucocyte antigen (HLA) alleles within the MHC region that are associated with PsA using a high-density SNP map.

Method: In all, 914 samples were assessed, including 427 PsA cases from 2 well established PsA cohorts and 487 controls from Canada.