The kelp Laminaria digitata growing in the low intertidal region along energetic coastlines are exposed to a range of hydrodynamic environments. Macroalgae in the intertidal zone can experience both ...waves and currents independently, but it is unknown how they influence growth rate. Relative growth rate of the meristematic region and the entire blade of L. digitata were measured to assess the influence of wave and current motion from three hydrodynamic environments: low current and low wave (LCLW), high current and low wave (HCLW), and high wave and low current (HWLC). Alongside hydrodynamic data, seawater nutrient concentrations and temperature were also collected and analyzed. Results suggest that differences in L. digitata relative growth rates were not attributed to the seawater nutrient concentrations or temperature, but attributed to the hydrodynamic environments. At the high current condition, kelp growth rate of the meristematic region was enhanced by 45% compared to the high wave condition. When including the entire blade growth rate, an average increase of 25% was observed between the high current and high wave condition. Potentially, the division in growth rate observed between the wave and current motion is related to the frequency and magnitude at which the hydrodynamic forces act. These findings highlight the complexity of the hydrodynamic environment and that forces associated with waves and currents may have a significant role on the productivity of kelp.
The European flat oyster Ostrea edulis once settled in high densities throughout its natural range but now exists only in small fragmented populations. In the Sea Lough of Strangford, Northern ...Ireland, recent increases in intertidal oyster numbers at historical sites along the north-east shore were recorded in 2018. A substantial number of conjoined oyster settlements were recorded within this density increase. One intertidal site produced numerous three-dimensional (3D) O. edulis specific matrices containing >16 oysters. In contrast, an extensive search of post and pre-1700s literature uncovered relatively few accounts of species-specific 3D O. edulis matrices and none relating to intertidal populations. The gregarious 3D settlements discovered during this research represent the first documented evidence of the phenomenon in Ireland. These emergent native oyster reef structures offer an insight into the possible intertidal O. edulis formations, which existed pre-1700 and could act as a guide to what may still be obtainable in the future.
•First records of extant Ostrea edulis 3D matrices in Ireland.•Evidence of O. edulis reef formations in European archives.•Native oyster settlement in conjoined formations; emergent reef or beds.
Ostrea edulis was once prolific throughout Europe and considered as the continent's native oyster. However, O. edulis currently exists in small fragmented assemblages where natural unaided recovery ...is rarely encountered. This research identified the small semi‐enclosed sea Lough of Strangford on the northeast coast of Northern Ireland as one of the few locations within Europe where the native oyster displayed gregarious natural rejuvenation. On close examination, four influential parameters appeared to assist in concentrated settlement; raised topographical cultch formations, shell coverage, the number of fecund in situ adults, and site protection. If these components were to be combined and managed as part of reintroduction and restoration initiatives, high‐density settlements and self‐sustaining populations may be possible. The research also identified that unregulated harvesting of intertidal O. edulis assemblages has the potential to seriously hinder natural recoveries. Indeed, the findings suggest that a review of policy in regards to intertidal hand gathering is necessary. However, naturally occurring high‐density settlements recorded during this research should be inspirational to all involved in the restoration of the native oyster.
Idiopathic pulmonary fibrosis (IPF) is a complex lung disease characterized by scarring of the lung that is believed to result from an atypical response to injury of the epithelium. Genome-wide ...association studies have reported signals of association implicating multiple pathways including host defense, telomere maintenance, signaling, and cell-cell adhesion.
To improve our understanding of factors that increase IPF susceptibility by identifying previously unreported genetic associations.
We conducted genome-wide analyses across three independent studies and meta-analyzed these results to generate the largest genome-wide association study of IPF to date (2,668 IPF cases and 8,591 controls). We performed replication in two independent studies (1,456 IPF cases and 11,874 controls) and functional analyses (including statistical fine-mapping, investigations into gene expression, and testing for enrichment of IPF susceptibility signals in regulatory regions) to determine putatively causal genes. Polygenic risk scores were used to assess the collective effect of variants not reported as associated with IPF.
We identified and replicated three new genome-wide significant (
< 5 × 10
) signals of association with IPF susceptibility (associated with altered gene expression of
,
, and
) and confirmed associations at 11 previously reported loci. Polygenic risk score analyses showed that the combined effect of many thousands of as yet unreported IPF susceptibility variants contribute to IPF susceptibility.
The observation that decreased
expression associates with increased susceptibility to IPF supports recent studies demonstrating the importance of mTOR signaling in lung fibrosis. New signals of association implicating
and
suggest a possible role of mitotic spindle-assembly genes in IPF susceptibility.
Childhood obesity is associated with a multitude of co-morbidities, including hypertension, hyperlipidaemia, cardiovascular disease and type 2 diabetes. Childhood obesity can also affect a young ...person's social, emotional and mental health if they encounter negative prejudice and social marginalisation. Given the prevalence of overweight and obese children globally, it is imperative that effective interventions are developed. Children are receptive to information conveyed via digital means, therefore, the use of technology may play a crucial role in interventions to reduce childhood obesity. This systematic review aimed to review and critically appraise the literature published to date in relation to the effectiveness of technology-based interventions, employed as secondary prevention, in addressing childhood obesity.
An electronic search strategy was undertaken in Medline and Embase, covering publications up to and including 12th July 2018. Randomised controlled trials assessing the effectiveness of technology-based interventions on weight-related outcomes in children, aged 8 to 18, published only in the English language, were included.
From an initial search total of 1012 studies, 11 met the inclusion criteria. They were assessed for methodological quality using the Cochrane Risk of Bias Tool for Randomised Controlled Trials and were analysed using a narrative approach. The findings of this review showed a limited potential of technology-based interventions, employed as secondary prevention, to address childhood obesity. Of the eleven studies reviewed, three (27%) showed a positive relationship between technology-based interventions and weight-related outcomes in overweight or obese children.
This review suggests that technology-based interventions, primarily active video games, as well as internet or web-based interventions and mobile phone communications, may, with further research, have the potential to impact positively on weight-related outcomes. It is difficult to determine the degree of efficacy of these technology-based interventions, as only two databases were searched, selecting only English language articles. Moreover, the included studies demonstrated a lack of high-quality evidence. The lack and heterogeneity of studies with technology-based interventions is a further limitation.
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered
. Here we used ...whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants
, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.
The disrupted in schizophrenia 1 (DISC1) gene is a candidate susceptibility factor for schizophrenia, but its mechanistic role in the disorder is unknown. Here we report that the gene encoding ...phosphodiesterase 4B (PDE4B) is disrupted by a balanced translocation in a subject diagnosed with schizophrenia and a relative with chronic psychiatric illness. The PDEs inactivate adenosine 3',5'-monophosphate (cAMP), a second messenger implicated in learning, memory, and mood. We show that DISC1 interacts with the UCR2 domain of PDE4B and that elevation of cellular cAMP leads to dissociation of PDE4B from DISC1 and an increase in PDE4B activity. We propose a mechanistic model whereby DISC1 sequesters PDE4B in resting cells and releases it in an activated state in response to elevated cAMP.
The heterogeneous manifestations of MYH9‐related disorder (MYH9‐RD), characterized by macrothrombocytopenia, Döhle‐like inclusion bodies in leukocytes, bleeding of variable severity with, in some ...cases, ear, eye, kidney, and liver involvement, make the diagnosis for these patients still challenging in clinical practice. We collected phenotypic data and analyzed the genetic variants in more than 3,000 patients with a bleeding or platelet disorder. Patients were enrolled in the BRIDGE‐BPD and ThromboGenomics Projects and their samples processed by high throughput sequencing (HTS). We identified 50 patients with a rare variant in MYH9. All patients had macrothrombocytes and all except two had thrombocytopenia. Some degree of bleeding diathesis was reported in 41 of the 50 patients. Eleven patients presented hearing impairment, three renal failure and two elevated liver enzymes. Among the 28 rare variants identified in MYH9, 12 were novel. HTS was instrumental in diagnosing 23 patients (46%). Our results confirm the clinical heterogeneity of MYH9‐RD and show that, in the presence of an unclassified platelet disorder with macrothrombocytes, MYH9‐RD should always be considered. A HTS‐based strategy is a reliable method to reach a conclusive diagnosis of MYH9‐RD in clinical practice.
MYH9‐related disorder diagnosis is still challenging in clinical practice. We analyzed the genetic variants in more than 3,000 patients with a bleeding or platelet disorder and identified 50 patients with a rare variant in MYH9. In the presence of an unclassified platelet disorder with macrothrombocytes, MYH9‐RD should always be considered.
U.S. Marine Corps recruits quarantined at home for 2 weeks; after this period, 0.9% were found to be infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). During a second, ...supervised 2-week quarantine on a college campus, 1.9% had become newly infected, and most were asymptomatic.
Background. Effective measures are needed to prevent methicillin-resistant Staphylococcus aureus (MRSA) skin and soft tissue infections (SSTIs) in high-risk community settings. The study objective ...was to evaluate the effect of personal hygiene–based strategies on rates of overall SSTI and MRSA SSTI. Methods. We conducted a prospective, field-based, cluster-randomized trial in US Army Infantry trainees from May 2010 through January 2012. There were 3 study groups with incrementally increased education and hygiene-based interventions: standard (S), enhanced standard (ES), and chlorhexidine (CHG). The primary endpoints were incidence of overall SSTI and MRSA SSTI. Results. The study included 30 209 trainees constituting 540 platoons (168 S, 192 ES, and 180 CHG). A total of 1203 (4%) participants developed SSTI, 316 (26%) due to MRSA. The overall SSTI rate was 4.15 (95% confidence interval CI, 3.77–4.58) per 100 person-cycles. SSTI rates by study group were 3.48 (95% CI, 2.87–4.22) for S, 4.18 (95% CI, 3.56–4.90) for ES, and 4.71 (95% CI, 4.03–5.50) for CHG. The MRSA SSTI rate per 100 person-cycles for all groups was 1.10 (95% CI, .91–1.32). MRSA SSTI rates by study group were 1.0 (95% CI, .70–1.42) for S, 1.29 (95% CI, .98–1.71) for ES, and 0.97 (95% CI, .70–1.36) for CHG. Conclusions. Personal hygiene and education measures, including once-weekly use of chlorhexidine body wash, did not prevent overall SSTI or MRSA SSTI in a high-risk population of military trainees. Clinical Trials Registration. NCT01105767.
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