A Case Report of a Rare Variation in the Lateral Cord of the Brachial Plexus

The brachial plexus is the largest and most complex neural plexus in the body located in the neck and axilla. So far, there have been many reports of various variations in the brachial plexus that are of clinical significance. In the present study, while dissecting the upper limb of a 54-year-old man in the dissection room of Shahid Sadoughi University of Medical Sciences in Yazd, a rare variation was observed in the lateral cord branches of the plexus. In this case, the medial pectoral nerve, which normally separates from the medial cord, originated from the lateral cord. Awareness of this variation is important for anatomists, surgeons, anesthesiologists and radiologists to interpret the graphs, etc., and can help to reduce clinical complications during surgery and better interpret and diagnose the graphs.

Rare variant contribution to human disease in 281,104 UK Biobank exomes

Genome-wide association studies have uncovered thousands of common variants associated with human disease, but the contribution of rare variation to common disease remains relatively unexplored. The UK Biobank (UKB) contains detailed phenotypic data linked to medical records for approximately 500,000 participants, offering an unprecedented opportunity to evaluate the impact of rare variation on a broad collection of traits1,2. Here, we studied the relationships between rare protein-coding variants and 17,361 binary and 1,419 quantitative phenotypes using exome sequencing data from 269,171 UKB participants of European ancestry. Gene-based collapsing analyses revealed 1,703 statistically significant gene-phenotype associations for binary traits, with a median odds ratio of 12.4. Furthermore, 83% of these associations were undetectable via single variant association tests, emphasizing the power of gene-based collapsing analysis in the setting of high allelic heterogeneity. Gene-phenotype associations were also significantly enriched for loss-of-function-mediated traits and approved drug targets. Finally, we performed ancestry-specific and pan-ancestry collapsing analyses using exome sequencing data from 11,933 UKB participants of African, East Asian, or South Asian ancestry. Together, our results highlight a significant contribution of rare variants to common disease. Summary statistics are publicly available through an interactive portal (http://azphewas.com/).

Rare Variation of the Origin of Dorsal Pancreatic Artery: A Case Report

Transcatheter arterial chemoembolization (TACE) has become an important method for the treatment of liver cancer. It is necessary to super-select the tumor feeding artery, avoid arteries of normal tissues and organs, and avoid complications caused by ectopic embolization. This case is a rare variation of the origin of dorsal pancreatic artery in the course of TACE.