Publications by authors named "J Lauzon"
Individuals with monoallelic pathogenic variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of remains unclear. Here, we present a largely female cohort of 11 individuals with variants with developmental delays and dysmorphic facial features.
View Article and Find Full Text PDFWhat to expect following targeted muscle reinnervation/regenerative peripheral nerve interface: Pain outcomes in an amputee population.
J Plast Reconstr Aesthet Surg
December 2024
Article Synopsis
- Targeted muscle reinnervation (TMR) and regenerative peripheral nerve interface (RPNI) are procedures aimed at reducing neuropathic pain and lowering the need for narcotics in amputees.
- A study of 22 amputees revealed a general decrease in pain and medication use over the year following these surgeries, although some patients reported increased pain in the first three months.
- The research highlighted different recovery outcomes between patients who had initial surgery versus those who had subsequent procedures, suggesting that further studies are needed to better understand pain trends after TMR or RPNI.
The terrestrial subsurface harbors unique microbial communities that play important biogeochemical roles and allow for studying a yet unknown fraction of the Earth's biodiversity. The Saint-Leonard cave in Montreal City (Canada) is of glaciotectonic origin. Its speleogenesis traces back to the withdrawal of the Laurentide Ice Sheet 13,000 years ago, during which the moving glacier dislocated the sedimentary rock layers.
View Article and Find Full Text PDFBackground: Chondrodysplasia punctata 1 (CDPX1) is an X-linked recessive disorder of cartilage and bone development characterized by stippling on the cartilage and bone, flattened nasal bridge, and brachydactyly, or short fingers. CDPX1 has been associated with variants in the ARSL gene and is known to manifest prenatally, however, there has been no systematic literature review on this evidence.
Aims: Here, we reviewed the current literature on prenatal manifestations of CDPX1, and additionally introduce previously unpublished cases.
Article Synopsis
- Congenital cytomegalovirus (cCMV) is a common viral infection in newborns, with maternal CMV serology tests typically starting with IgM and IgG antibody assessment.
- In a study of five perinatal cases, cCMV was diagnosed in fetuses despite negative maternal IgM results during the second trimester, highlighting the limitations of this test.
- The findings suggest that a negative maternal CMV IgM does not rule out cCMV, making prenatal CMV testing important along with autopsy and placental evaluations for unexplained fetal issues.