Publications by authors named "R F Cornell"
Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by lower lip pits and orofacial clefts (OFCs). With a prevalence of approximately 1 in 35,000 live births, it is the most common form of syndromic clefting and may account for ~2% of all OFCs. The majority of VWS is attributed to genetic variants in IRF6 (~70%) or GRHL3 (~5%), leaving up to 25% of individuals with VWS without a molecular diagnosis.
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- In Finland, isolated cleft palate (CP) occurs more frequently than cleft lip with or without cleft palate (CL/P), which is the opposite trend seen in other European countries.
- A genome-wide association study revealed a specific single nucleotide polymorphism (rs570516915) strongly linked to CP in the Finnish population, showing significant statistical results and confirmed in other cohorts.
- The risk allele for rs570516915 disrupts a binding site for the IRF6 transcription factor, leading to decreased IRF6 expression, indicating that this genetic alteration may be a key factor in the mechanism causing CP.
Background: The 3-piece inflatable penile prosthesis (IPP) is the most widely used device for erectile dysfunction refractory to medications, containing a reservoir inserted into the retropubic space (RPS) or an alternative/ectopic space (AES). Indications for removal of the reservoir include malfunction, malposition, or infection. In revision cases without infection, reservoir removal is sometimes optional.
View Article and Find Full Text PDFBackground: We evaluated adverse short-term outcomes after open lower-extremity bypass surgery in patients with diabetes mellitus with a comparison performed based on patient height.
Methods: The American College of Surgeons National Surgical Quality Improvement Program database was analyzed to select patients with Current Procedural Terminology codes 35533, 35540, 35556, 35558, 35565, 35566, 35570, and 35571 and with the diagnosis of diabetes mellitus. This resulted in 83 patients 60 inches or less in height, 1,084 between 60 and 72 inches, and 211 patients 72 inches and taller.
Neurons coordinate inter-tissue protein homeostasis to systemically manage cytotoxic stress. In response to neuronal mitochondrial stress, specific neuronal signals coordinate the systemic mitochondrial unfolded protein response (UPR) to promote organismal survival. Yet, whether chemical neurotransmitters are sufficient to control the UPR in physiological conditions is not well understood.
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