Publications by authors named "Brandy Rawls"
Article Synopsis
- The report examines clinical, genetic, and biochemical characteristics of individuals with a confirmed congenital disorder of glycosylation (CDG) participating in the FCDGC Natural History cohort after five years of study.
- A total of 333 subjects were enrolled, with 280 having available genetic data; this included a nearly even split between males and females, with ages ranging from infancy to 71 years.
- The study found developmental delays to be the most common symptom leading to diagnosis, occurring in 77% of participants, with an average delay of 2.7 years from symptom onset to diagnosis, and nearly all individuals displaying some developmental differences at the time of enrollment.
Background: Organic acidemias, especially propionic acidemia (PA) and methylmalonic acidemia (MMA), may manifest clinically within the first few hours to days of life. The classic presentation in the newborn period includes metabolic acidosis, hyperlactatemia, and hyperammonemia that is precipitated by unrestricted protein intake. Implementation of newborn screening to diagnose and initiate early treatment has facilitated a reduction in neonatal mortality and improved survival.
View Article and Find Full Text PDFDue to immunosenescence, older adults are particularly susceptible to lung-based viral infections, with increased severity of symptoms in those with underlying chronic lung disease. Repeated respiratory viral infections produce lung maladaptations, accelerating pulmonary dysfunction. Toll like 3 receptor (TLR3) is a membrane protein that senses exogenous double-stranded RNA to activate the innate immune response to a viral infection.
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