BACKGROUND Acute respiratory distress syndrome (ARDS) due to coronavirus 2019 (COVID-19) can result in severe disease requiring mechanical ventilatory support. A subset of these patients, however, demonstrate refractory hypoxemia/hypercarbia requiring veno-venous extracorporeal membrane oxygenation (V-V ECMO) as adjunctive therapy. The primary goal of V-V ECMO is a "bridge" to recovery of native lung function; however, patients may progress to irreversible pulmonary damage requiring lung transplantation.
View Article and Find Full Text PDFBackground: Trio exome sequencing can be used to investigate congenital abnormalities identified on pregnancy ultrasound, but its use in an Australian context has not been assessed.
Aims: Assess clinical outcomes and changes in management after expedited genomic testing in the prenatal period to guide the development of a model for widespread implementation.
Materials And Methods: Forty-three prospective referrals for whole exome sequencing, including 40 trios (parents and pregnancy), two singletons and one duo were assessed in a tertiary hospital setting with access to a state-wide pathology laboratory.
Background: A coronavirus disease 2019 (COVID-19) community outbreak was declared October 5-December 3, 2020, in the Restigouche region of New Brunswick, Canada. This article describes the epidemiological characteristics of the outbreak and assesses factors associated with its transmission in rural communities, informing public health measures and programming.
Methods: A provincial line list was developed from case and contact interviews.
Despite proven benefits to prone positioning in ARDS, a disconnect exists regarding the impressions of its utility among members of the healthcare team. While the majority of physicians view prone positioning as beneficial in ARDS, recent data suggest that the minority of ICU nurses have the same impression. The COVID pandemic has raised particularly challenges in terms of availability of personnel and supplies at least in some institutions.
View Article and Find Full Text PDFWe report the first case of diffuse gastric cancer in an individual with familial blepharocheilodontic syndrome (BCD) due to a germline CDH1 likely pathogenic variant. To date, other BCD affected relatives are nonpenetrant for diffuse gastric cancer posing challenges to counseling regarding gastric and breast cancer surveillance, and preventative total gastrectomy.
View Article and Find Full Text PDFChronic diseases have a major impact on populations and healthcare systems worldwide. Administrative health data are an ideal resource for chronic disease surveillance because they are population-based and routinely collected. For multi-jurisdictional surveillance, a distributed model is advantageous because it does not require individual-level data to be shared across jurisdictional boundaries.
View Article and Find Full Text PDFCrouzon syndrome (CS) and Beare-Stevenson syndrome (BSS) are craniosynostosis syndromes caused by mutations in the fibroblast growth factor 2 () gene. CS is more common (1 in 60,000 live births) than BSS, where fewer than 20 individuals have been reported. The cardinal features of BSS are craniosynostosis, cutis gyrata, acanthosis nigricans, skin furrows, skin tags, anogenital anomalies, and a prominent umbilical stump.
View Article and Find Full Text PDFColobomata are etiologically heterogeneous and may occur as an isolated defect or as a feature of a variety of single-gene disorders, chromosomal syndromes, or malformation syndromes. Although not classically associated with Marfan syndrome, colobomata have been described in several reports of Marfan syndrome, typically involving the lens and rarely involving other ocular structures. While colobomata of the lens have been described in Marfan syndrome, there are very few reports of coloboma involving other ocular structures.
View Article and Find Full Text PDFThe Cpx envelope stress response mediates adaptation to stresses that cause envelope protein misfolding. Adaptation is partly conferred through increased expression of protein folding and degradation factors. The Cpx response also plays a conserved role in the regulation of virulence determinant expression and impacts antibiotic resistance.
View Article and Find Full Text PDFObjective: To determine the frequency and risk factors of post-dural puncture headache (PDPH) in research volunteers.
Background: Despite increasing interest in measuring cerebrospinal fluid (CSF) biomarkers to investigate disease pathogenesis and diagnosis, previous case series have evaluated lumbar puncture (LP) safety only in clinical care. PDPH is a common complication after LP.
The bacterial cell envelope is the interface between a bacterium and its environment and is constantly exposed to environmental changes. The BaeSR two-component system regulates one of six envelope stress responses in Escherichia coli and is induced by spheroplasting, overexpression of the pilin subunit PapG, and exposure to indole. The known BaeR regulon is small, consisting of eight genes, mdtABCD-baeSR, acrD, and spy, two of which encode the BaeSR two-component system itself.
View Article and Find Full Text PDFCombination antiretroviral therapy (CART) has greatly reduced medical morbidity and mortality with HIV infection, but high rates of HIV-associated neurocognitive disorders (HAND) continue to be reported. Because large HIV-infected (HIV+) and uninfected (HIV-) groups have not been studied with similar methods in the pre-CART and CART eras, it is unclear whether CART has changed the prevalence, nature, and clinical correlates of HAND. We used comparable methods of subject screening and assessments to classify neurocognitive impairment (NCI) in large groups of HIV + and HIV - participants from the pre-CART era (1988-1995; N = 857) and CART era (2000-2007; N = 937).
View Article and Find Full Text PDFWe examined neurocognitive functioning among persons with acute or early HIV infection (AEH) and hypothesized that the neurocognitive performance of AEH individuals would be intermediate between HIV seronegatives (HIV-) and those with chronic HIV infection. Comprehensive neurocognitive testing was accomplished with 39 AEH, 63 chronically HIV infected, and 38 HIV- participants. All AEH participants were HIV infected for less than 1 year.
View Article and Find Full Text PDFpSCL2 (120 kb), one of the linear plasmids found in Streptomyces clavuligerus NRRL3585, was isolated and partially sequenced. Computational analysis of the central region of pSCL2 revealed the presence of two open reading frames that appear to encode proteins highly homologous to RepL1 and RepL2, replication proteins from pSLA2-L, the large linear plasmid in Streptomyces rochei. The S.
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