140 research outputs found
An Examination of the Effects of Glacial Retreat in the Colorado River Basin
As a result of global warming, glaciers around the world have been retreating substantially over the past century. This paper focuses upon how this will affect the ecosystems of the Colorado River Basin. By examining similar situations worldwide the relevant information has been applied to creating a scenario showing what the author feels is the most likely result of near total glacial retreat in the Colorado River Basin. Specifically, certain animals and plants will likely vanish from the affected areas, while others will obtain further territory. Increased natural disasters such as flash floods and earthquakes will likely occur for a time, and droughts throughout the Western United States will increase substantially in their severity
The Effect of Substrate Variation on Biofilm Growth for Use in Wastewater Treatment
The formation of biofilms on surfaces exposed to water has had significant impacts on wastewater treatment technology. Biofilms are used advantageously in wastewater treatment as rotating biological contractors to degrade harmful organic and inorganic materials. However, biofilm formation on equipment designed to inspect water quality, such as a passive sampler, can alter calculated pollution concentrations. This project investigates the effect of salt and heavy metals on a slowly rotating biological contactor and the effect of a strong magnetic field on a quickly rotating biological contactor. The extent of biofouling on a passive sampler is also examined
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Integrating Smart Ceiling Fans and Communicating Thermostats to Provide Energy-Efficient Comfort
The project goal was to identify and test the integration of smart ceiling fans and communicating thermostats. These highly efficient ceiling fans use as much power as an LED light bulb and have onboard temperature and occupancy sensors for automatic operationbased on space conditions. The Center for the Environment (CBE) at UC Berkeley led the research team including TRC, Association for Energy Affordability (AEA), and Big Ass Fans (BAF). The research team conducted laboratory tests, installed99 ceiling fans and 12 thermostats in four affordable multifamily housing sites in California’s Central Valley, interviewed stakeholders to develop a case study, developed an online design tool and design guide, outlined codes and standards outreach, and published several papers.The project team raised indoor cooling temperature setpoints and used ceiling fans as the first stage of cooling; this sequencing of ceiling fans and air conditioningreducesenergy consumption, especially during peak periods, while providing thermal comfort.The field demonstration resulted in 39% measured compressor energy savings during the April–October cooling seasoncompared to baseline conditions, normalized for floor area. Weather-normalized energy use varied from a 36% increase to 71% savings, withmedian savings of 15%.This variability reflects the diversity in buildings, mechanical systems, prior operation settings, space types, andoccupants’ schedules,preferences, and motivations. All commercial spaces with regular occupancy schedules (and twoof the irregularly-occupied commercial spaces and one of the homes) showed energy savings on an absolute basis before normalizing for warmer intervention temperatures,and 10 of 13 sites showed energy savings on a weather-normalized basis. The ceiling fans provided cooling for one site for months during hot weather when the coolingequipment failed.Occupants reported high satisfaction with the ceiling fans and improved thermal comfort. This technology can apply to new and retrofit residential and commercial buildings
Personalized Federated Deep Learning for Pain Estimation From Face Images
Standard machine learning approaches require centralizing the users' data in
one computer or a shared database, which raises data privacy and
confidentiality concerns. Therefore, limiting central access is important,
especially in healthcare settings, where data regulations are strict. A
potential approach to tackling this is Federated Learning (FL), which enables
multiple parties to collaboratively learn a shared prediction model by using
parameters of locally trained models while keeping raw training data locally.
In the context of AI-assisted pain-monitoring, we wish to enable
confidentiality-preserving and unobtrusive pain estimation for long-term
pain-monitoring and reduce the burden on the nursing staff who perform frequent
routine check-ups. To this end, we propose a novel Personalized Federated Deep
Learning (PFDL) approach for pain estimation from face images. PFDL performs
collaborative training of a deep model, implemented using a lightweight CNN
architecture, across different clients (i.e., subjects) without sharing their
face images. Instead of sharing all parameters of the model, as in standard FL,
PFDL retains the last layer locally (used to personalize the pain estimates).
This (i) adds another layer of data confidentiality, making it difficult for an
adversary to infer pain levels of the target subject, while (ii) personalizing
the pain estimation to each subject through local parameter tuning. We show
using a publicly available dataset of face videos of pain (UNBC-McMaster
Shoulder Pain Database), that PFDL performs comparably or better than the
standard centralized and FL algorithms, while further enhancing data privacy.
This, has the potential to improve traditional pain monitoring by making it
more secure, computationally efficient, and scalable to a large number of
individuals (e.g., for in-home pain monitoring), providing timely and
unobtrusive pain measurement.Comment: 12 pages, 6 figure
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review
IMPORTANCE: Infants with hypotonia can present with a variety of potentially severe clinical signs and symptoms and often require invasive testing and multiple procedures. The wide range of clinical presentations and potential etiologies leaves diagnosis and prognosis uncertain, underscoring the need for rapid elucidation of the underlying genetic cause of disease. OBSERVATIONS: The clinical application of exome sequencing or genome sequencing has dramatically improved the timely yield of diagnostic testing for neonatal hypotonia, with diagnostic rates of greater than 50% in academic neonatal intensive care units (NICUs) across Australia, Canada, the UK, and the US, which compose the International Precision Child Health Partnership (IPCHiP). A total of 74% (17 of 23) of patients had a change in clinical care in response to genetic diagnosis, including 2 patients who received targeted therapy. This narrative review discusses the common causes of neonatal hypotonia, the relative benefits and limitations of available testing modalities used in NICUs, and hypotonia management recommendations. CONCLUSIONS AND RELEVANCE: This narrative review summarizes the causes of neonatal hypotonia and the benefits of prompt genetic diagnosis, including improved prognostication and identification of targeted treatments which can improve the short-term and long-term outcomes. Institutional resources can vary among different NICUs; as a result, consideration should be given to rule out a small number of relatively unique conditions for which rapid targeted genetic testing is available. Nevertheless, the consensus recommendation is to use rapid genome or exome sequencing as a first-line testing option for NICU patients with unexplained hypotonia. As part of the IPCHiP, this diagnostic experience will be collected in a central database with the goal of advancing knowledge of neonatal hypotonia and improving evidence-based practice
Recommendations for gonadotoxicity surveillance in male childhood, adolescent, and young adult cancer survivors : a report from the International Late Effects of Childhood Cancer Guideline Harmonization Group in collaboration with the PanCareSurFup Consortium
Treatment with chemotherapy, radiotherapy, or surgery that involves reproductive organs can cause impaired spermatogenesis, testosterone deficiency, and physical sexual dysfunction in male pubertal, adolescent, and young adult cancer survivors. Guidelines for surveillance and management of potential adverse effects could improve cancer survivors' health and quality of life. Surveillance recommendations vary considerably, causing uncertainty about optimum screening practices. This clinical practice guideline recommended by the International Late Effects of Childhood Cancer Guideline Harmonization Group in collaboration with the PanCareSurFup Consortium, developed using evidence-based methodology, critically synthesises surveillance recommendations for gonadotoxicity in male childhood, adolescent, and young adult (CAYA) cancer survivors. The recommendations were developed by an international multidisciplinary panel including 25 experts in relevant medical specialties, using a consistent and transparent process. Recommendations were graded according to the strength of underlying evidence and potential benefit gained by early detection and appropriate management. The aim of the recommendations is to enhance evidence-based care for male CAYA cancer survivors. The guidelines reveal the paucity of high-quality evidence, highlighting the need for further targeted research.Peer reviewe
Genetic Analyses of Heme Oxygenase 1 (HMOX1) in Different Forms of Pancreatitis
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107993.pdf (publisher's version ) (Open Access)BACKGROUND: Heme oxygenase 1 (HMOX1) is the rate limiting enzyme in heme degradation and a key regulator of inflammatory processes. In animal models the course of pancreatitis was ameliorated by up-regulation of HMOX1 expression. Additionally, carbon monoxide released during heme breakdown inhibited proliferation of pancreatic stellate cells and might thereby prevent the development of chronic pancreatitis (CP). Transcription of HMOX1 in humans is influenced by a GT-repeat located in the promoter. As such, HMOX1 variants might be of importance in the pathogenesis of pancreatitis. METHODS: The GT-repeat and SNP rs2071746 were investigated with fluorescence labelled primers and by melting curve analysis in 285 patients with acute pancreatitis, 208 patients with alcoholic CP, 207 patients with idiopathic/hereditary CP, 147 patients with alcoholic liver cirrhosis, and in 289 controls, respectively. GT-repeat analysis was extended to a total of 446 alcoholic CP patients. In addition, we performed DNA sequencing in 145 patients with alcoholic CP, 138 patients with idiopathic/hereditary CP, 147 patients with alcoholic liver cirrhosis, and 151 controls. Exon 3 screening was extended to additional patients and controls. RESULTS: S- and L-alleles of the GT-repeat, genotypes and alleles of SNP rs2071746 and non-synonymous variants detected by sequencing were found with similar frequencies in all groups. CONCLUSIONS: Although functional data implicate a potential influence of HMOX1 variants on the pathogenesis of pancreatitis, we did not find any association. As rare non-synonymous HMOX1 variants were found in patients and controls, it is rather unlikely that they will have functional consequences essential for pancreatitis development
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Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.
BACKGROUND: Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines. METHODS: In this international, multicentre study, we analysed patients with medulloblastoma from retrospective cohorts (International Cancer Genome Consortium [ICGC] PedBrain, Medulloblastoma Advanced Genomics International Consortium [MAGIC], and the CEFALO series) and from prospective cohorts from four clinical studies (SJMB03, SJMB12, SJYC07, and I-HIT-MED). Whole-genome sequences and exome sequences from blood and tumour samples were analysed for rare damaging germline mutations in cancer predisposition genes. DNA methylation profiling was done to determine consensus molecular subgroups: WNT (MBWNT), SHH (MBSHH), group 3 (MBGroup3), and group 4 (MBGroup4). Medulloblastoma predisposition genes were predicted on the basis of rare variant burden tests against controls without a cancer diagnosis from the Exome Aggregation Consortium (ExAC). Previously defined somatic mutational signatures were used to further classify medulloblastoma genomes into two groups, a clock-like group (signatures 1 and 5) and a homologous recombination repair deficiency-like group (signatures 3 and 8), and chromothripsis was investigated using previously established criteria. Progression-free survival and overall survival were modelled for patients with a genetic predisposition to medulloblastoma. FINDINGS: We included a total of 1022 patients with medulloblastoma from the retrospective cohorts (n=673) and the four prospective studies (n=349), from whom blood samples (n=1022) and tumour samples (n=800) were analysed for germline mutations in 110 cancer predisposition genes. In our rare variant burden analysis, we compared these against 53 105 sequenced controls from ExAC and identified APC, BRCA2, PALB2, PTCH1, SUFU, and TP53 as consensus medulloblastoma predisposition genes according to our rare variant burden analysis and estimated that germline mutations accounted for 6% of medulloblastoma diagnoses in the retrospective cohort. The prevalence of genetic predispositions differed between molecular subgroups in the retrospective cohort and was highest for patients in the MBSHH subgroup (20% in the retrospective cohort). These estimates were replicated in the prospective clinical cohort (germline mutations accounted for 5% of medulloblastoma diagnoses, with the highest prevalence [14%] in the MBSHH subgroup). Patients with germline APC mutations developed MBWNT and accounted for most (five [71%] of seven) cases of MBWNT that had no somatic CTNNB1 exon 3 mutations. Patients with germline mutations in SUFU and PTCH1 mostly developed infant MBSHH. Germline TP53 mutations presented only in childhood patients in the MBSHH subgroup and explained more than half (eight [57%] of 14) of all chromothripsis events in this subgroup. Germline mutations in PALB2 and BRCA2 were observed across the MBSHH, MBGroup3, and MBGroup4 molecular subgroups and were associated with mutational signatures typical of homologous recombination repair deficiency. In patients with a genetic predisposition to medulloblastoma, 5-year progression-free survival was 52% (95% CI 40-69) and 5-year overall survival was 65% (95% CI 52-81); these survival estimates differed significantly across patients with germline mutations in different medulloblastoma predisposition genes. INTERPRETATION: Genetic counselling and testing should be used as a standard-of-care procedure in patients with MBWNT and MBSHH because these patients have the highest prevalence of damaging germline mutations in known cancer predisposition genes. We propose criteria for routine genetic screening for patients with medulloblastoma based on clinical and molecular tumour characteristics. FUNDING: German Cancer Aid; German Federal Ministry of Education and Research; German Childhood Cancer Foundation (Deutsche Kinderkrebsstiftung); European Research Council; National Institutes of Health; Canadian Institutes for Health Research; German Cancer Research Center; St Jude Comprehensive Cancer Center; American Lebanese Syrian Associated Charities; Swiss National Science Foundation; European Molecular Biology Organization; Cancer Research UK; Hertie Foundation; Alexander and Margaret Stewart Trust; V Foundation for Cancer Research; Sontag Foundation; Musicians Against Childhood Cancer; BC Cancer Foundation; Swedish Council for Health, Working Life and Welfare; Swedish Research Council; Swedish Cancer Society; the Swedish Radiation Protection Authority; Danish Strategic Research Council; Swiss Federal Office of Public Health; Swiss Research Foundation on Mobile Communication; Masaryk University; Ministry of Health of the Czech Republic; Research Council of Norway; Genome Canada; Genome BC; Terry Fox Research Institute; Ontario Institute for Cancer Research; Pediatric Oncology Group of Ontario; The Family of Kathleen Lorette and the Clark H Smith Brain Tumour Centre; Montreal Children's Hospital Foundation; The Hospital for Sick Children: Sonia and Arthur Labatt Brain Tumour Research Centre, Chief of Research Fund, Cancer Genetics Program, Garron Family Cancer Centre, MDT's Garron Family Endowment; BC Childhood Cancer Parents Association; Cure Search Foundation; Pediatric Brain Tumor Foundation; Brainchild; and the Government of Ontario
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