J.P. Lewis results 160
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Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curationNARA Subscribed
Gene-based therapies are being developed for retinal diseases, including RS1- related X-linked retinoschisis. Therefore it is essential to determine which variants are pathogenic and which are benign when enrolling patients. The Clinical Genome Resource (ClinGen) X-Linked Inherited Retinal Diseases (XLRD) Variant Curation Expert Panel (VCEP) brings together clinician scientists, molecular biologists, and geneticists to apply t...
We have attempted to re-establish bay scallops to the Virginia, U.S.A. coastal bays and document the dynamics of the restoration effort. Bay scallops ( Argopecten irradians ) once flourished in the eelgrass ( Zostera marina ) of the Virginia coastal bays. Eelgrass wasting disease led to declines, and both eelgrass and scallops were completely lost after a 1933 hurricane. The Virginia Institute of Marine Science (VIMS) led a su...
Marine Isotope Stage 4 glaciation in northern England, UK: Evidence from Victoria Cave, North YorkshireNARA Subscribed
Victoria Cave, north Yorkshire, England, contains a long sequence of Pleistocene clastic sediments and calcite flowstones. Earlier work, using U–Th dating, established that the flowstone units formed in interglacial stages corresponding to Marine Isotope Stages (MIS) 13, 11, 9, 7 and 5. The intervening laminated sediments were therefore assigned to glacial stages (MIS 12, 10, 6 and 2) and regarded as rhythmites that settled fr...
Effect of six weeks ubiquinol supplementation on mitochondrial respiratory function and exercise capacity in healthy malesNARA Subscribed
Coenzyme Q10 (CoQ 10 ) is an integral component of the mitochondrial electron transfer system. Most studies have administered the oxidised form of CoQ 10 (ubiquinone) and observed no effects on mitochondrial respiratory function or endurance exercise performance. The reduced form of CoQ 10 , ubiquinol (UQH 2 ), has greater bioavailability than ubiquinone, but the effects of UQH 2 supplementation on mitochondrial respiratory fu...
At least 10 minutes of seated rest is required for stabilisation of blood-based hydration biomarkersNARA Subscribed
Postural changes elicit well-described haemodynamic effects on plasma volume, affecting blood-based hydration variables. While the time required for plasma volume stabilisation is well-established for supine rest, less is known for blood samples collected in a seated position, as is commonplace in physiology and nutrition experiments. Seventeen healthy participants (9 males; 8 females) stood stationary for 20 min in an upright...
Community-based mangrove restoration following a catastrophic hurricane in The BahamasNARA Subscribed
Restoration of damaged coastal ecosystems is a component of broader conservation strategies. Hurricane Dorian (September 2019) was the worst natural disaster in the history of The Bahamas. This caused widespread societal and ecological damage, including destroying mangrove ecosystems—systems that provide numerous ecosystem services for the country. We first used satellite mapping to document mangrove destruction caused by Dori...
Purpose Exercise-induced hypohydration exacerbates biomarkers of renal injury, but studies isolating the effects of hypohydration without exercise have produced mixed findings. This study investigated the effects of 24-h severe fluid restriction on biomarkers of renal injury and glucose tolerance. Methods Fifteen males (age: 27 ± 5 y; BMI: 24.1 ± 3.8 kg/m 2 ) completed two randomised trials, involving consuming either 40 mL/kg...
7 days of L-citrulline supplementation does not improve running performance in the heat whilst in a hypohydrated stateNARA Subscribed
Purpose 7 days L-citrulline supplementation has been reported to improve blood pressure, $$\mathop {\text{V}}\limits^{.}$$ V . O 2 kinetics, gastrointestinal (GI) perfusion and endurance cycling performance through increasing arterial blood flow. In situations where blood volume is compromised (e.g., hyperthermia/hypohydration), L-citrulline may improve thermoregulation and exercise performance by redistributing blood flow to...
An Outbreak of Synthetic Cannabinoid-Adulterated Tianeptine Products in New Jersey – Case SeriesNARA Subscribed
Background Tianeptine, an atypical antidepressant not approved in the United States, is readily purchased from unregulated markets such as the internet and gas stations. We became aware of a cluster of 34 patients in New Jersey who became ill following ingestion of the tianeptine containing-product Neptune’s Fix, the rate of which (4.6 cases per month) far exceeded the background rate for this substance of 0.5 cases per year....
Seagrass wasting disease prevalence and lesion area increase with invertebrate grazing across the northeastern PacificNARA Subscribed
Disease is a key driver of community and ecosystem structure, especially when it strikes foundation species. In the widespread marine foundation species eelgrass ( Zostera marina ), outbreaks of wasting disease have caused large‐scale meadow collapse in the past, and the causative pathogen, Labyrinthula zosterae , is commonly found in meadows globally. Research to date has mainly focused on abiotic environmental drivers of sea...