Publications by authors named "Laurie C"
Polygenic risk scores (PRSs) depend on genetic ancestry due to differences in allele frequencies between ancestral populations. This leads to implementation challenges in diverse populations. We propose a framework to calibrate PRS based on ancestral makeup.
View Article and Find Full Text PDFPurpose: Activity-based therapy (ABT) promotes neuromuscular activation below the injury level in individuals with spinal cord injury (SCI). This qualitative descriptive study explored the experiences and perceptions of Canadian clinicians and clinic administrators regarding assessment practices in community-based ABT programs.
Methods: Twelve participants from six community clinics, in four provinces, completed individual interviews that followed a semi-structured guide informed by the Theoretical Domains Framework.
Article Synopsis
- Whole genome sequencing (WGS) helps identify rare genetic variants that may explain the missing heritability of coronary artery disease (CAD) by analyzing 4,949 cases and 17,494 controls from the NHLBI TOPMed program.
- The study estimates that the heritability of CAD is around 34.3%, with ultra-rare variants contributing about 50%, especially those with low linkage disequilibrium.
- Functional annotations show significant enrichment of CAD heritability, highlighting the importance of ultra-rare variants and specific regulatory mechanisms in different cells as major factors influencing genetic risk for the disease.
Article Synopsis
- Clonal hematopoiesis (CH) occurs when genetically identical blood cells expand, often influenced by genetic mutations linked to blood cancers; however, many cases happen without known driver mutations.
- Researchers analyzed 51,399 genomes to study a specific type of CH (CH-LPMneg) without detectable leukemia-related mutations, developing a new method (GEM rate) to estimate mutation burden without paired samples.
- Through their study, they identified seven genes linked to CH-LPMneg and found that alterations in hematopoietic stem cell (HSC) behavior may drive this mutation burden, while a broader analysis revealed relationships between GEM and the expression of 404 genes.
Background: Gastro-esophageal reflux (GORD) following sleeve gastrectomy (SG) is a central challenge, and precise indications for revisional surgery or the physiology have not been precisely defined. We aimed to determine whether OAGB performed for reflux post-SG (1) accelerates gastric emptying half-time, (2) reduces the frequency and severity of reflux events, and (3) improves reflux symptoms.
Methods: We undertook a prospective trial (ACTRN12616001089426).
Safety of carrageenan-based gels as preventive microbicides: a narrative review.
Sex Transm Infect
August 2024
Background: Carrageenan-containing gels researched for the prevention of sexually transmitted infections (STIs) have shown promising results for human papillomavirus prevention in women, but not in men. We conducted a narrative review to assess the safety of these gels for genital use.
Methods: We searched PubMed using MeSH terms and keywords on 5 November 2023.
Article Synopsis
- Coronary artery calcification (CAC) is linked to heart disease and assessed through a genome-wide association study (GWAS) involving 22,400 participants from various backgrounds.
- The study confirmed connections with four known genetic loci and discovered two new loci related to CAC, with supportive replication findings for both.
- Functional tests suggest that ARSE promotes calcification in vascular smooth muscle cells and its variants may influence CAC levels, identifying ARSE as a key target for potential treatments in vascular calcific diseases.
Previous research has shown that women's use of a carrageenan gel reduces the risk of acquiring genital human papillomavirus (HPV) infections but does not help to clear existing ones. Although gel use may not result in complete clearance, it may decrease the viral load of HPV infections. We tested this hypothesis in the Carrageenan-gel Against Transmission of Cervical Human papillomavirus (CATCH) randomized controlled trial.
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- * Researchers compared viral loads of HPV16 and HPV18 in participants using carrageenan versus a placebo, finding no statistically significant differences between the two groups.
- * Overall, the study indicates that carrageenan's lack of impact on HPV viral loads may account for its ineffectiveness in providing protection against HPV infections in the targeted population.
Article Synopsis
- The study examines weight loss issues following laparoscopic sleeve gastrectomy (LSG) by comparing gastric emptying rates through nuclear scintigraphy and CT volumetric imaging among patients categorized by their weight loss success.* -
- Results showed that patients with optimal weight loss (OWL) experienced a significantly greater percentage of total weight loss and faster gastric emptying compared to those with poor weight loss (PWL), indicating delayed gastric emptying is linked to less weight loss effectiveness.* -
- The findings suggest that nuclear scintigraphy could be a more reliable diagnostic tool for assessing physiological function post-LSG than measuring gastric volume, as the latter did not correlate with weight loss outcomes.*
Article Synopsis
- The study aimed to investigate whether a positive test for human papillomavirus (HPV) prior to treatment affects cervical cancer recurrence and survival outcomes, as well as the relationship between HPV and various tumor characteristics.
- A systematic review was conducted, analyzing data from 77 studies that included a total of 11,179 titles, focusing on HPV detection methods and patient outcomes in invasive cervical cancer cases.
- Results indicated that testing positive for HPV improved disease-free survival, cancer-specific survival, and overall survival, but it did not show a significant effect on recurrence rates.
Background: Significant controversy exists regarding the indications and outcomes after laparoscopic adjustable gastric banding (LAGB) conversions to laparoscopic sleeve gastrectomy (LSG).
Aim: To comprehensively determine the long-term outcomes of sleeve gastrectomy as a revisional procedure after LAGB across a range of measures and determine predictors of outcomes.
Methods: Six hundred revision LSG (RLSG) and 1200 controls (primary LSG (PLSG)) were included.
Background: Carrageenan demonstrated potent anti-HPV (human papillomavirus) activity and in animal models. The Carrageenan-gel Against Transmission of Cervical Human papillomavirus trial's interim analysis (n = 277) demonstrated a 36% protective effect of carrageenan against incident HPV infections. Herein, we report the trial's final results.
View Article and Find Full Text PDFPurpose: There are significant alterations in gastro-intestinal function, food tolerance, and symptoms following sleeve gastrectomy (SG). These substantially change over the first year, but it is unclear what the underlying physiological basis for these changes is. We examined changes in oesophageal transit and gastric emptying and how these correlate with changes in gastro-intestinal symptoms and food tolerance.
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- A study analyzed over 43,000 blood genomes and discovered 7,131 recurrent non-missense somatic mutations (RNMSMs) that frequently occur in at least 50 individuals, challenging the idea that such mutations are rare and insignificant.
- RNMSMs were found to increase with age, averaging 27 mutations in individuals around 50 years old, and were linked to inherited genetic variations affecting immune functions.
- The presence of specific RNMSMs was associated with blood cell traits similar to the effects of inherited genetic mutations, suggesting that these somatic mutations have significant implications for human health.
Mutations in a diverse set of driver genes increase the fitness of haematopoietic stem cells (HSCs), leading to clonal haematopoiesis. These lesions are precursors for blood cancers, but the basis of their fitness advantage remains largely unknown, partly owing to a paucity of large cohorts in which the clonal expansion rate has been assessed by longitudinal sampling. Here, to circumvent this limitation, we developed a method to infer the expansion rate from data from a single time point.
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- Male circumcision is linked to a lower prevalence and incidence of HPV infections in males, with a significant odds ratio of 0.45 and incidence rate ratio of 0.69 found across 32 studies.
- The procedure also appears to enhance the likelihood of clearing existing HPV infections, resulting in a risk ratio of 1.44 for male subjects.
- Moreover, females with circumcised male partners experience an added protective benefit against HPV, especially when considering the differences in infection rates in various penile locations.
Background: Risk for venous thromboembolism has a strong genetic component. Whole genome sequencing from the TOPMed program (Trans-Omics for Precision Medicine) allowed us to look for new associations, particularly rare variants missed by standard genome-wide association studies.
Methods: The 3793 cases and 7834 controls (11.
Background: Intermediate to long-term weight regain is a major challenge following sleeve gastrectomy (SG). Physiological changes that mediate the extent of weight loss remain unclear. We aimed to determine if there were specific esophago-gastric transit and emptying alterations associated with weight regain.
View Article and Find Full Text PDFBackground: Asthma is a heterogeneous common respiratory disease that remains poorly understood. The established genetic associations fail to explain the high estimated heritability, and the prevalence of asthma differs between populations and geographic regions. Robust association analyses incorporating different genetic ancestries and whole-genome sequencing data may identify novel genetic associations.
View Article and Find Full Text PDFBackground: Sex differences related to immune responses can influence atopic manifestations in childhood asthma. While genome-wide association studies have investigated a sex-specific genetic architecture of the immune response, gene-by-sex interactions have not been extensively analysed for atopy-related markers including allergy skin tests, IgE and eosinophils in asthmatic children.
Methods: We performed a genome-wide gene-by-sex interaction analysis for atopy-related markers using whole-genome sequencing data based on 889 trios from the Genetic Epidemiology of Asthma in Costa Rica Study (GACRS) and 284 trios from the Childhood Asthma Management Program (CAMP).
Purpose: Bariatric surgery is an efficacious intervention for substantial and sustained weight reduction in individuals with morbid obesity resulting in health improvements. However, the changes to a patient's health related quality of life (HRQoL) in the medium to longer term after bariatric surgery have not been adequately characterized. Our aim was to evaluate the change to patient HRQoL 5 years following bariatric surgery in an Australian government-funded hospital system and determine the significance of relationships between change in physical and mental assessment scores and HRQoL utility scores.
View Article and Find Full Text PDFObjective: To describe expected endoscopic and histological changes at gastro-esophageal junction (GEJ) and define diagnostic paradigms for Barrett esophagus (BE) postsleeve gastrectomy (SG).
Summary Background Data: De novo incidence of BE post SG was reported as high as 18.8%.
Background: The availability of whole-genome sequencing data in large studies has enabled the assessment of coding and noncoding variants across the allele frequency spectrum for their associations with blood pressure.
Methods: We conducted a multiancestry whole-genome sequencing analysis of blood pressure among 51 456 Trans-Omics for Precision Medicine and Centers for Common Disease Genomics program participants (stage-1). Stage-2 analyses leveraged array data from UK Biobank (N=383 145), Million Veteran Program (N=318 891), and Reasons for Geographic and Racial Differences in Stroke (N=10 643) participants, along with whole-exome sequencing data from UK Biobank (N=199 631) participants.
Article Synopsis
- - This study investigates the genetic basis of telomere length (TL) across a diverse group of 109,122 individuals from various ancestries, marking the first such analysis that includes non-European populations.
- - Researchers identified 59 significant genetic variants linked to TL, with 20 novel associations; these findings suggest that the genetic factors influencing TL are consistent across different populations.
- - The analysis further revealed connections between telomere length and increased cancer risk, highlighting the potential implications of telomere genetics in age-related diseases.