Introduction: Advancements in vascularized composite allotransplantation have made hand transplants possible for persons living with upper limb loss. Hand transplantation is not a life-saving procedure, but rather a quality-of-life enhancing procedure; hence the risk of morbidity and mortality must be weighed against improvements in function and appearance. This study explored the decision-making process of patients evaluated for hand transplantation.
View Article and Find Full Text PDFPilot Feasibility Stud
November 2021
Background: Diabetes care has been traditionally focused on targeting certain levels of glycemic control. This narrow emphasis may impose burdens on patients, including high treatment costs, illness-related work, or side effects from medications, while leaving other patient needs and goals under-addressed. The authors aim to shift the paradigm of care for people with diabetes, to focus on quality of life, burden of treatment, safety, and avoidance of future events: the QBSAfe domains.
View Article and Find Full Text PDFInborn errors of cholesterol metabolism occur as a result of mutations in the cholesterol synthesis pathway (CSP). Although mutations in the CSP cause a multiple congenital anomaly syndrome, craniofacial abnormalities are a hallmark phenotype associated with these disorders. Previous studies have established that mutation of the zebrafish hmgcs1 gene (Vu57 allele), which encodes the first enzyme in the CSP, causes defects in craniofacial development and abnormal neural crest cell (NCC) differentiation.
View Article and Find Full Text PDF