Axillary Fossa Variations

Knowledge of muscular, vascular, and neural variations in the axilla is of great clinical importance, especially in mastectomies, breast reconstruction, and axillary bypass operations. The aim of our study is to emphasize on multiple variability of the axillary structures and its clinical importance. In this paper we report some varieties of the axilla, found in two cadavers, including: the axillary arch muscle of Langer; atypical inflow of cephalic vein into external jugular vein; variations in branching of brachial plexus. In one of the axillae we discover an availability of muscular fibers bridging between pectoralis major and latissimus dorsi muscles. The second finding though more rare than the first one is of particular importance for cardiac implant techniques still treating the cephalic vein as a target for venesection. The branching varieties of the nerves in the axilla are presented by musculocutaneus nerve starting from median nerve. Identification of the axillary arch and its variations may help avoid accidental injury to axillary vessels and the brachial plexus during surgical procedures. Some device implanters still prefer to cut down the cephalic vein as the initial approach to venous access for transvenous placement of pacemaker or defibrillator leads out of concern for the risk of pneumothorax, subclavian crush, and other possible complications. Anesthesiologists administering local anesthetic blocks and surgeons operating in the axilla should be aware of nerve varieties to avoid iatrogenic injury. We conclude that more wide concern of the pattern of the axillary fossa structures is necessary to escape inadvertent accidents

Behavioural and functional evidence revealing the role of RBFOX1 variation in multiple psychiatric disorders and traits

Common variation in the gene encoding the neuron-specific RNA splicing factor RNA Binding Fox-1 Homolog 1 (RBFOX1) has been identified as a risk factor for several psychiatric conditions, and rare genetic variants have been found causal for autism spectrum disorder (ASD). Here, we explored the genetic landscape of RBFOX1 more deeply, integrating evidence from existing and new human studies as well as studies in Rbfox1 knockout mice. Mining existing data from large-scale studies of human common genetic variants, we confirmed gene-based and genome-wide association of RBFOX1 with risk tolerance, major depressive disorder and schizophrenia. Data on six mental disorders revealed copy number losses and gains to be more frequent in ASD cases than in controls. Consistently, RBFOX1 expression appeared decreased in post-mortem frontal and temporal cortices of individuals with ASD and prefrontal cortex of individuals with schizophrenia. Brain-functional MRI studies demonstrated that carriers of a common RBFOX1 variant, rs6500744, displayed increased neural reactivity to emotional stimuli, reduced prefrontal processing during cognitive control, and enhanced fear expression after fear conditioning, going along with increased avoidance behaviour. Investigating Rbfox1 neuron-specific knockout mice allowed us to further specify the role of this gene in behaviour. The model was characterised by pronounced hyperactivity, stereotyped behaviour, impairments in fear acquisition and extinction, reduced social interest, and lack of aggression; it provides excellent construct and face validity as an animal model of ASD. In conclusion, convergent translational evidence shows that common variants in RBFOX1 are associated with a broad spectrum of psychiatric traits and disorders, while rare genetic variation seems to expose to early-onset neurodevelopmental psychiatric disorders with and without developmental delay like ASD, in particular. Studying the pleiotropic nature of RBFOX1 can profoundly enhance our understanding of mental disorder vulnerability