Publications by authors named "james P"

Anaemia in pregnancy is a persistent health problem in Nepal and could be reduced through nutrition counselling and strengthened iron folic acid supplementation programmes. We analysed 24-hour diet recall data from 846 pregnant women in rural plains Nepal, using linear programming to identify the potential for optimised food-based strategies to increase iron adequacy. We then conducted qualitative research to analyse how anaemia was defined and recognised, how families used food-based strategies to address anaemia, and the acceptability of optimised food-based strategies.

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The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation.

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Background: Atopy and allergic asthma have been found to be protective against coronavirus disease (COVID-19) in adults but have not been studied in children.

Objective: To identify whether children and adolescents with asthma had less severe disease and lower morbidity from COVID-19 than their counterparts without asthma.

Methods: This was a retrospective chart review from March 1, 2020, through January 31, 2021.

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Background: Endoscopic retrograde cholangiopancreatography (ERCP) brush cytology is used frequently for sampling indeterminate biliary strictures. Studies have demonstrated that the diagnostic yield of brush cytology for malignant strictures is estimated to be 6%-70%. With improved diagnostic tools, sampling techniques and specimen processing, the yield of ERCP brush cytology may be higher.

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Background: Hemophilia carriers experience abnormal bleeding symptoms; however, a lack of awareness about this topic coupled with additional knowledge gaps and barriers leads to suboptimal care for this population.

Objective: The primary objective was to describe the current knowledge gaps and challenges from the perspective of both hemophilia carriers and their health care providers.

Methods: We carried out a mixed methods descriptive study with two population groups between September and December 2020.

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Article Synopsis
  • - The study aims to compare colorectal cancer (CRC) incidences between two groups: one group receiving mandatory colonoscopy surveillance (PLSD) and another group with retrospective data (IMRC) that did not have the same follow-up.
  • - Results from the PLSD showed higher CRC rates in carriers of MMR gene variants, particularly for path_MLH1 and path_MSH2, compared to the IMRC cohort, challenging previous expectations about cancer rates in these groups.
  • - The study concludes that while colonoscopy did reduce CRC incidences in paths_MPS2 carriers prior to age 50, it did not have the same effect for path_MLH1 and path_MSH2, suggesting the need for reevaluation of
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Microgravity-induced bone loss is a major concern for space travelers. Ground-based microgravity simulators are crucial to study the effect of microgravity exposure on biological systems and to address the limitations posed by restricted access to real space. In this work, for the first time, we adopt a multidisciplinary approach to characterize the morphological, biochemical, and molecular changes underlying the response of human bone marrow stromal cells to long-term simulated microgravity exposure during osteogenic differentiation.

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Many studies failed to show a predictive impact of AMH levels on the chances of pregnancy; however, acceptable pregnancy rates for young women with low AMH levels were observed in IVF + / - ICSI. The objectives of this retrospective study were to evaluate the clinical pregnancy and live birth rates in the first IVF + / - ICSI cycle in women under 38 years old with AMH level < 1.2 ng/ml and to determine the arguments for care.

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Type 1 von Willebrand disease (VWD) is associated with a reduction in qualitatively normal von Willebrand factor (VWF). Current diagnostic guidelines only take into consideration the contribution of basal VWF levels, despite a lack of correlation with bleeding severity. Defects in stimulated VWF release, which occurs after hemostatic challenge, may contribute to bleeding in type 1 VWD, but the pathogenic mechanisms are poorly defined.

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 Growing emphasis on quality and patient safety has supported the shift toward competency-based medical education for advanced endoscopy trainees (AETs). In this study, we aimed to examine Canadian AETs learning curves and achievement of competence using an ERCP assessment tool with strong evidence of validity.  This prospective study was conducted at five institutions across Canada from 2017-2018.

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Background: Light at night (LAN) may alter estrogen regulation through circadian disruption. High levels of outdoor LAN may increase breast cancer risk, but studies have largely not considered possible residual confounding from correlated environmental exposures. We evaluated the association between indoor and outdoor LAN and incident breast cancer.

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Exposure to natural greenspace benefits health through direct and indirect pathways: increasing physical activity, improving mental health, relieving social isolation, reducing exposure to extreme temperature, noise, and air pollution. Understanding the etiologic pathway of greenspace and health is needed. Here, we used a large cohort follow-up data from the U.

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Natural environments have been linked to decreased risk of cardiovascular disease (CVD) and respiratory disease (RSD) mortality. However, few cohort studies have looked at associations of natural environments with CVD or RSD hospitalization. The aim of this study was to evaluate these associations in a cohort of U.

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Aims: The causes, circumstances, and preventability of young sudden cardiac arrest remain uncertain.

Methods And Results: A prospective state-wide multi-source registry identified all out-of-hospital cardiac arrests (OHCAs) in 1-50 year olds in Victoria, Australia, from 2019 to 2021. Cases were adjudicated using hospital and forensic records, clinic assessments and interviews of survivors and family members.

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The use of metaphyseal sleeves in revision total knee arthroplasty has gained popularity with numerous clinical series demonstrating excellent osseointegration and survivorship at medium- to long-term follow up. Once osseointegrated, sleeves provide excellent biological fixation and are difficult to remove. Here, we describe our surgical technique and sequence in removing metaphyseal sleeves in contemporary revision knee systems with case demonstrations.

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Introduction: Auditory challenges are both common and disruptive for autistic children and evidence suggests that listening difficulties may be linked to academic underachievement (Ashburner, Ziviani & Rodger, 2008). Such deficits may also contribute to issues with attention, behavior, and communication (Ashburner et al., 2008; Riccio, Cohen, Garrison & Smith, 2005).

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Background: Administrative coding of out-of-hospital cardiac arrest (OHCA) is heterogeneous, with the prevalence of noninformative diagnoses uncertain.

Aim: To characterize the prevalence and type of non-informative diagnoses in a young cardiac arrest population.

Methods: Hospital discharge diagnoses provided to a statewide OHCA registry were characterised as either 'informative' or 'noninformative.

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Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exon 3. Bioinformatically predicted spliceogenic variants underwent mRNA splicing analysis using minigenes and/or patient samples.

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Unlabelled: Inverse associations between natural vegetation exposure (i.e., greenness) and breast cancer risk have been reported; however, it remains unknown whether greenness affects breast tissue development or operates through other mechanisms (e.

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Ageing and urbanisation pose significant challenges for public health and urban planning. Ageing populations are at particular risk from hazards arising from urbanisation processes, some of which are in turn exacerbated by climate change. One approach for mitigating the negative effects of urbanisation on ageing populations is the leveraging of the beneficial effects of urban green infrastructure as a public health intervention in the planning process.

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Objective: To contextualize obesity rates in young sudden cardiac death (SCD) against the age-matched national population, and identify clinical and pathologic features in WHO class II and III obesity.

Methods: A prospective state-wide out-of-hospital cardiac arrest registry included all SCDs in Victoria, Australia from 2019-2021. Body mass indices (BMIs) of patients 18-50 years were compared to age-referenced general population.

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The coronavirus, COVID-19 pandemic spread across the globe in 2020, with an initial high case mortality in those requiring intensive care treatment due to serious complication. A vaccine programme was quickly developed and currently the UK is one of highest double vaccinated and boosted countries in the world. Despite tremendous efforts by the UK, new cases of COVID-19 are still occurring, due to viral mutation.

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Article Synopsis
  • Whole-genome sequencing (WGS) is proposed as a comprehensive diagnostic tool for early-onset dementia (EOD), overcoming the limitations of multiple genetic tests.
  • WGS was applied to 50 EOD patients, identifying clinical diagnoses in 14% and risk factors in another 16%, with some significant genetic variants detected.
  • The study suggests that implementing WGS as a primary diagnostic method could enhance the identification of genetic causes, speeding up the process for patients with EOD.
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Background Research identifying and returning clinically actionable germline variants offer a new avenue of access to genetic information. The psychosocial and clinical outcomes for women who have received this ‘genome-first care’ delivering hereditary breast and ovarian cancer risk information outside of clinical genetics services are unknown. Methods: An exploratory sequential mixed-methods case-control study compared outcomes between women who did (cases; group 1) and did not (controls; group 2) receive clinically actionable genetic information from a research cohort in Victoria, Australia.

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