Publications by authors named "Brett Cassidy"

Background & Aims: Protease-sensitive PNLIP variants were recently associated with chronic pancreatitis (CP) in European populations. The pathological mechanism yet remains elusive. Herein, we performed a comprehensive genetic and functional analysis of PNLIP variants found in a large Chinese cohort, aiming to further unravel the enigmatic association of PNLIP variants with CP.

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Article Synopsis
  • A study identified three novel mutations in the PNLIP gene related to congenital pancreatic lipase deficiency (CPLD), which impairs pancreatic enzyme function.
  • Researchers examined how these mutations affected PNLIP's secretion and caused endoplasmic reticulum (ER) stress in lab cells.
  • All mutations resulted in defective secretion, with two specific variants causing protein misfolding and potentially leading to damage in pancreatic cells.
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Objective: Increasing evidence implicates mutation-induced protein misfolding and endoplasm reticulum (ER) stress in the pathophysiology of chronic pancreatitis (CP). The paucity of animal models harbouring genetic risk variants has hampered our understanding of how misfolded proteins trigger CP. We previously showed that pancreatic triglyceride lipase (PNLIP) p.

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We created a low-cost femoral triangle model that allows first year medical students to practice ultrasound-guided procedures while reinforcing their knowledge of femoral triangle anatomy. Use of this model also increased opportunities for informal near-peer teaching and student involvement in the creation of instructional materials.

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Essure (TM, Bayer; Leverkusen, Germany) may act as a potential cause of autoimmune/inflammatory syndrome by adjuvants (ASIA). Essure is a device hysteroscopically inserted into the fallopian tubes to elicit a local inflammatory response for permanent sterilization. Patients with ASIA present with a constellation of symptoms including fatigue, cognitive impairment, and arthralgias.

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Genetic variants contribute to the risk of chronic pancreatitis (CP) in adults and children. The risk variant CEL-HYB1, a recombinant hybrid allele of CEL and its neighboring pseudogene (CELP), encodes a pathogenic variant of the pancreatic digestive enzyme carboxyl ester lipase (CEL). We previously identified combinations of two non-synonymous SNPs, c.

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