Publications by authors named "J M Lord"

Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants.

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  • The study examined the awareness, sanitation practices, and education efforts regarding zoonotic disease risks among employees at pet and animal feed stores that sell live animals.* -
  • Surveys of 206 employees revealed that handwashing and perceived disease risk were significantly higher in workplaces with specific hygiene policies and training.* -
  • Key factors influencing employees' likelihood to educate customers included supervisory roles, higher perceived disease risks, and the frequency of sanitation practices.*
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  • * A quality improvement project aimed at using academic detailing (AD) was conducted to educate primary care providers on screening, referral, and treatment for opioid use disorder, alongside available community resources.
  • * While the project did not lead to increased screening or prescribing practices for opioid use disorder, it successfully improved providers' knowledge of local resources, revealing time constraints as a key barrier to implementing such services.
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Congenital heart disease (CHD) describes a structural cardiac defect present from birth. A cohort of participants recruited to the 100,000 Genomes Project (100 kGP) with syndromic CHD (286 probands) and familial CHD (262 probands) were identified. "Tiering" following genome sequencing data analysis prioritised variants in gene panels linked to participant phenotype.

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  • Coronary heart disease (CHD) is the top cardiovascular disease in the U.S., particularly affecting North Dakota, and while obesity increases CHD risk, some research shows a complex relationship between body mass index (BMI) and CHD outcomes.* -
  • This study analyzed data from 17,092 North Dakota adults to assess CHD prevalence and identify factors influencing the condition among those with and without obesity.* -
  • Results indicated that CHD prevalence was higher in adults with obesity (4.7%) compared to those without (3.0%), and common predictors included age, sex, and health conditions like high blood pressure and diabetes, with some variations based on obesity status.*
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