Genomic Landscape of Chromosome X Factor VIII: From Hemophilia A in Males to Risk Variants in Females.

Background: Variants within factor VIII (F8) are associated with sex-linked hemophilia A and thrombosis, with gene therapy approaches being available for pathogenic variants. Many variants within F8 remain variants of uncertain significance (VUS) or are under-explored as to their connections to phenotypic outcomes.

Methods: We assessed data on F8 expression while screening the UniProt, ClinVar, Geno2MP, and gnomAD databases for F8 missense variants; these collectively represent the sequencing of more than a million individuals.

D130A variant on Parkinson 22-related CHCHD2 is predicted to have decreased protein movement.

Parkinson's disease is the second most common neurodegenerative disease which is caused by a lack of dopamine in the brain. Parkinson 22 is a form of Parkinson's disease caused by variations in the coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) protein. This study investigates an aspartic acid-to-alanine swap on amino acid position 130 (D130A) of the CHCHD2 protein.

Integrated Endoscopic Craniosynostosis Surgery and Cranial Orthosis Program.

Introduction: Craniosynostosis results from premature fusion of the cranial sutures. There has been a continuous evolution of surgical correction techniques from an extensive open procedure to the minimally invasive technique.

Aims And Objectives: This novel surgical technique has never been previously done in the UAE and this article documents the experience of the first team to endoscopically correct craniosynostosis with planning, surgical techniques, and customized helmet therapy.

Design considerations of benchtop fluid flow bioreactors for bio-engineered tissue equivalents .

One of the major aims of bio-engineering tissue equivalents is to create physiologically relevant culture conditions to accurately recreate the cellular microenvironment. This often includes incorporation of factors such as the extracellular matrix, co-culture of multiple cell types and three-dimensional culture techniques. These advanced techniques can recapitulate some of the properties of tissue , however fluid flow is a key aspect that is often absent.

Endoscopic-assisted Surgery in the Treatment of Isolated Frontosphenoidal Craniosynostosis.

Isolated frontosphenoidal craniosynostosis is extremely rare, due to which diagnosis can be challenging. All the isolated cases reported have been treated by open surgical technique. We present a unique case report of an infant with an isolated frontosphenoidal synostosis corrected by a novel endoscopic surgical technique.