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At least 91 records · Page 5Linked to original sources

PubMed2025

Polygenic risk scores in the clinic: Health-system leaders and primary care providers weigh in.

PURPOSE: The fourth phase of the Electronic Medical Records and Genome Network is testing the return of 10 polygenic risk scores (PRS) across multiple clinics. Understanding the perspectives of health-system leaders and frontline clinicians can inform plans for implementation of PRS. METHODS: A total of 15 health-system leaders and 20 primary care providers took part in semistructured interviews. A descriptive thematic analysis was performed. RESULTS: Interviewees generally perceived PRS to have limited clinical utility, although they saw value in the potential to identify and act upon risks that are not otherwise detectable. Perceived potential drawbacks included negative psycho-emotional effects on patients, unnecessary follow-up, distracting from population health priorities, opportunity costs, and medicolegal liability. Implementation considerations included increased encounter time and the need for clinical practice guidelines, provider training, care coordination, and point-of-care resources. CONCLUSION: Participants generally expressed favorable views of precision medicine and also identified potential challenges to introducing PRS in clinical care. Implementation will require careful assessment of clinical utility vs usual care; ensuring that the benefit to be realized merits the time and resources required to interpret, return, and act on results and developing guidelines and other decision-making supports for providers and patients.

Humans↗

PubMed1979

Doctors accept a challenge: self-assessment exercises in continuing medical education.

A new approach to continuing medical education by distance learning has been implemented. A series of six patient-management problems or challenges were posted to 20 000 doctors throughout Britain. Each doctor had to decide on the diagnosis, investigations, and treatment of the patients described. The challenges covered problems that were important in the doctor's day-to-day work and were designed so that he could obtain immediate feedback about his decisions and compare his own responses with those of a specialist and those of his colleagues. Additional information was available by telephone and by post on request. The series has been well received and is being widely used.

Attitude of Health Personnel↗

PubMed2026

Associations between smart infusion pump-electronic health record interoperability and healthcare outcomes: A systematic review.

OBJECTIVE: This study synthesized available evidence on the associations between smart infusion pump-electronic health record (EHR) interoperability and healthcare outcomes. METHODS: A systematic review of PubMed, CINAHL, Embase, and Scopus databases identified 901 records, which were imported into Rayyan® for duplicate removal, independent screening by three reviewers, and resolution of discrepancies. Eligible studies were peer-reviewed, data-driven, and reported associations between smart infusion pump-EHR interoperability and healthcare outcomes. Studies focused solely on technical validation or interoperability prototypes were excluded. A backward citation search identified additional studies. Two reviewers independently extracted and cross-validated study characteristics using standardized templates. Methodological quality was assessed with the Joanna Briggs Institute Critical Appraisal Tools. RESULTS: Twenty records of 14 full-text studies and 6 conference proceedings were included. Most records reported positive associations between smart infusion pump-EHR interoperability and outcomes related to safety (e.g., medication administration errors, safety-reported events, pump alerts, and compliance with interoperability and drug library), operational efficiency (e.g., programming and documentation time and technical issues), financial performance (e.g., charges captured, and cost avoided), and user experience domains. Most studies used observational designs, reflecting real-world interoperability implementations, where controlling confounding factors is challenging. Limited reporting of baseline characteristics, pump type, and sample sizes limited comparability across studies. CONCLUSIONS: Smart infusion pump-EHR interoperability was associated with improvements in patient safety, efficiency, charge capture, and user experience, with variable findings across studies. Future research should use rigorous methodologies and standardized measures, examine relationships across outcome domains, assess limitations of pump-EHR interoperability, and evaluate underexplored outcomes, including team communication, cognitive workload, and AI-enabled pumps. IMPLICATIONS FOR CLINICAL PRACTICE: Interoperability should be viewed as a component of a broader sociotechnical system, in which technology, user, workflow, clinical content, and organizational practices collectively determine overall effectiveness.

Humans↗

PubMed2026

A STORM-based protocol for nanoscale imaging and quantitative analysis of protein-associated and phospholipid-associated structures in natural rubber.

Stochastic Optical Reconstruction Microscopy (STORM) enables nanoscale mapping of molecular components beyond the diffraction limit; however, its reproducible implementation in hydrophobic polymer matrices remains challenging because fluorescence-labeling specificity, fluorophore photoswitching, three-dimensional localization, chromatic registration, and quantitative image analysis must be carefully controlled. This protocol presents a standardized experimental workflow for dual-color labeling, astigmatism-based three-dimensional STORM acquisition, and quantitative analysis of protein-associated and phospholipid-associated structures in natural rubber (NR). The workflow covers sample pretreatment, Cy5 NHS ester labeling of protein-associated primary amines, DiI labeling of phospholipid-rich domains, STORM imaging-buffer preparation, three-dimensional single-molecule localization, dual-channel registration, generation of standardized xy projections, aggregate-size analysis, and projected lateral spatial correlation assessment. Reproducibility is supported by defined acquisition and localization criteria, three independent sample preparations with at least five fields of view analyzed per condition, and unlabeled, single-color, dye-only matrix, and processing-associated Cy5 controls. Mean lateral localization precisions of 11.8 ± 2.3 nm for Cy5 and 13.5 ± 2.9 nm for DiI were obtained, while two-dimensional Fourier ring correlation analysis of the xy projections yielded effective lateral image resolutions of approximately 25 and 28 nm, respectively. Image-based particle segmentation and localization-coordinate-based density-based spatial clustering of applications with noise (DBSCAN) were applied to standardized xy projections as complementary quantitative approaches. Application of the protocol to untreated, centrifuged, and protease-treated NR samples demonstrated treatment-associated changes in the detected abundance and projected size distributions of protein- and phospholipid-associated aggregates, together with a non-monotonic change in their projected lateral spatial correlation. These observations describe alterations in nanoscale organization but do not, by themselves, establish stable protein-phospholipid complex formation. Unlike previous studies that primarily demonstrated the feasibility of STORM imaging in rubber materials, the principal contribution of this work is an end-to-end, step-by-step protocol incorporating defined controls, three-dimensional localization, image-quality metrics, chromatic-registration procedures, and complementary quantitative-analysis pipelines for non-expert users. The workflow may be adaptable to other hydrophobic polymers and soft-material systems after appropriate optimization and validation.

Rubber↗

PubMed1975

Malignant melanoma in the Igbos of Nigeria.

Twenty-one cases of malignant melanoma occurring in the Igbos of Nigeria have been analysed. The site of predilection is the sole of the foot. This result supports the conclusion that Negroes tend to have the disease in the non-pigmented parts. Since preventive surgery has been advocated in Caucasians in whom sole melanomas are not common, it merits consideration and, if possible, implementation in the African Negro. The challenge implicit in this form of preventive oncology should be accepted by plastic surgeons, including Africans who specialized in this field abroad.

Adult↗

PubMed2026

Pesci: fast and user-friendly software to compare single-cell gene expression across species.

SUMMARY: Recent technological advances have propelled comparative functional genomics into the single-cell era, spurring a rapid development of methods to analyse these complex datasets. However, comparing single-cell gene expression across species to quantify expression similarity and ultimately identify homologous cell types remains an open problem. The ICC algorithm (Iterative Correlation of Coexpression) has been recently proposed as an attractive approach to tackle this challenge, but, to date, no software implementation is available. Here, we introduce Pesci (Pretty Easy Single-cell Comparisons using ICC), an efficient and user-friendly implementation of the ICC algorithm applied to pairwise comparisons of single-cell gene expression atlases across species. AVAILABILITY: Pesci is implemented in Python 3 (≥3.7). It is available for download on Linux, macOS and Windows via pip, conda and GitHub at https://github.com/eparey/pesci. The source code is permanently archived on Zenodo (https://doi.org/10.5281/zenodo.21477543).

Software↗

PubMed2025

OpenSpliceAI: An efficient, modular implementation of SpliceAI enabling easy retraining on non-human species.

The SpliceAI deep learning system is currently one of the most accurate methods for identifying splicing signals directly from DNA sequences. However, its utility is limited by its reliance on older software frameworks and human-centric training data. Here we introduce OpenSpliceAI, a trainable, open-source version of SpliceAI implemented in PyTorch to address these challenges. OpenSpliceAI supports both training from scratch and transfer learning, enabling seamless retraining on species-specific datasets and mitigating human-centric biases. Our experiments show that it achieves faster processing speeds and lower memory usage than the original SpliceAI code, allowing large-scale analyses of extensive genomic regions on a single GPU. Additionally, OpenSpliceAI's flexible architecture makes for easier integration with established machine learning ecosystems, simplifying the development of custom splicing models for different species and applications. We demonstrate that OpenSpliceAI's output is highly concordant with SpliceAI. In silico mutagenesis (ISM) analyses confirm that both models rely on similar sequence features, and calibration experiments demonstrate similar score probability estimates.

Journal Article↗

PubMedDate not supplied

The remedial evaluation instrument. A new approach.

This article proposes a different approach to address a reality of the nursing world: that of the Registered Nurse displaying cumulative technical performance deficiencies. This situation, with its accrued practical, intellectual, moral and emotional costs, deserves closer examination and careful reflection. To rehabilitate or to dismiss--two dissenting viewpoints implying ambiguity and distress. The dramatic universal nursing shortage tempts one to override or suppress this problem as does human reluctance to make judgements regarding dismissal. However, the importance of maintaining performance standards is crucial to the well-being of our ultimate consumer--the patient. The authors wish to explore issues surrounding, and the implementation of, one instrument designed to challenge the use of a conventional Employee Performance Appraisal Evaluation. The Remedial Evaluation Instrument (R.E.I.) as proposed in this article, may aid in resolving the problem of substandard employee performance.

Clinical Competence↗

PubMed1988

Teenage pregnancy: issues, interventions, and direction.

The positive health trends and overall improvement in health status among the US population cause health professionals, human service providers, educators, and policy makers to be encouraged about the fitness of our nation. When taking a closer look at these trends and related changes, however, a dilemma exists among a portion of our population that cannot be dismissed. While the health status of the US population as a whole has steadily improved over the past decades, such progress has not been sustained for adolescents. In fact, adolescence (15 to 21 years of age) is the only age group in which mortality rates have increased over the past decade.One of the principal threats to adolescent health is unwanted pregnancy. More than one million teenage pregnancies occur each year in the United States, 75 percent of which are unintended. Teenage pregnancy is a multifaceted problem that requires multifaceted intervention. It is not just the pregnant teenager's problem either, but may involve up to three generations of family members and a host of other significant relationships. The impact and cost to society can become staggering.If such a great proportion of these pregnancies are unintended, what steps can be taken to offer acceptable and accessible alternatives to adolescents? An assessment of the magnitude of this problem, its impact on the family and society, and the measures implemented to date reveal a major challenge facing our policy makers, health and human service providers, and concerned citizenry.

Adolescent↗

PubMedDate not supplied

Worldwide survey of AIDS vaccine challenge studies in nonhuman primates: vaccines associated with active and passive immune protection from live virus challenge.

An AIDS Vaccine Surveillance System (AVSS) was designed and implemented to track the rapidly growing international database supporting the development of promising AIDS vaccines. Both preclinical nonhuman primate (NHP) and clinical human trials are tracked by the AVSS. This report presents summary data generated from the AVSS on the NHP AIDS vaccine/live virus challenge studies only. Summary data on more than 100 preclinical HIV/SIV vaccines are presented within the framework of 1) 13 arbitrary Vaccine Types, 2) studies grouped by animal model (i.e., chimpanzee/HIV-1, and macaque/SIV, HIV-2), and 3) immunization approach (i.e., active and passive). Systematic and timely presentations of these summary data, both here and in future reports, aim to promote a clearer understanding of both earlier and more recent preclinical AIDS vaccine developments.

AIDS Vaccines↗

PubMed2025

Global considerations for lifelong management and therapeutic development for phenylketonuria.

Phenylketonuria (PKU) is an inherited metabolic disorder characterized by the accumulation of toxic phenylalanine levels in the brain that can lead to neurocognitive impairment if untreated. This review evaluates unmet needs in PKU, the importance of newborn screening (NBS), and considerations for chronic treatment options. An international group of experts reviewed the available literature across ethnicities and geographies to identify unmet needs of individuals with PKU. Treatment was assessed in a global context to address patient benefit. Reflecting challenges to the worldwide PKU community, some countries have been unable to implement NBS programs and/or do not apply a treatment-for-life approach. Ongoing challenges for individuals with PKU include maintaining adherence to treatment guidelines for patient- and practice-specific reasons, such as inadequate access to low-cost treatment, insufficient social support, limited clinical staffing, and disease burden. Dietary interventions may not adequately address all symptoms, and some of the current pharmacotherapies may be associated with limited efficacy or adverse events. Several new therapies are being evaluated for the treatment of PKU, offering the potential to address unmet needs. Global availability of NBS programs, access to treatments, and a tenacious commitment to treatment-for-life are expected to improve outcomes for individuals with PKU across geographic regions.

Humans↗

PubMed2025

Optimising parent selection in plant breeding: comparing metaheuristic algorithms for genotype building.

Stacking desirable haplotypes across the genome to develop superior genotypes has been implemented in several crop species. A major challenge in Optimal Haplotype Selection is identifying a set of parents that collectively contain all desirable haplotypes, a complex combinatorial problem with countless possibilities. In this study, we evaluated the performance of metaheuristic search algorithms (MSAs)-genetic algorithm (GA), differential evolution (DE), particle swarm optimisation (PSO), and simulated annealing (SA) for optimising parent selection under two genotype building (GB) objectives: Optimal Haplotype Selection (OHS) and Optimal Population Value (OPV). Using a diverse wheat population of 583 lines genotyped for 29,972 SNPs, forming 7645 haplotype blocks and phenotyped for stripe rust scores, we assessed each algorithm's performance across fitness optimisation, convergence speed, and computational efficiency. GA consistently achieved high fitness and rapid convergence, while DE showed robustness but required longer runtime and careful tuning. PSO performed well under the OHS criterion but was less effective for OPV. SA, although computationally lighter, was less consistent in finding optimal solutions. Simulation over 100 breeding cycles showed that OHS outperformed both OPV and GEBV-based selection in long-term genetic gain and diversity retention. OHS maintained heterozygosity and additive variance, which are key for sustainable improvement, while GEBV selection led to early allele fixation. Our findings underscore the potential of GB strategies that prioritise the collective performance of parent sets rather than individual ranking to enhance selection outcomes in genomic-assisted breeding programmes.

Plant Breeding↗

PubMed2026

Integration of ear and hearing care services in low- and middle-income health systems: a systematic review and qualitative synthesis.

Hearing loss is a global public health burden and mostly affects those living in low- and middle-income countries (LMICs). One approach to address ongoing challenges is the World Health Organization's recommendation for the integration of ear and hearing care (EHC) services into healthcare packages. However, little is known about EHC integration approaches, particularly in LMICs additionally, these approaches have not been investigated through a health systems lens. This qualitative review aimed to describe the various approaches to the EHC service integration in LMICs and to identify enabling and constraining factors. We reviewed 17 studies, with a focus on LMICs, using adaptations of the Valentijn integration and World Health Organization EHC frameworks, following the PRISMA guidelines. Our investigation showed that most integration approaches were at micro or individual level. Enabling factors for integration of EHC services were training, mentorship, collaboration, technology, inclusion of EHC in healthcare packages and investment in EHC services. Barriers were challenges with training, facilities and equipment, policy implementation and resourcing of EHC services. We further described factors influencing healthcare seeking behaviour and the use of integrated EHC services, such as access and ability to pay, referral systems and communication and awareness. This study describes the complex nature of EHC integration and ways to support integration. Key considerations are the level of integration, training to address workforce issues and factors influencing service utilisation as we work towards health system strengthening.

Humans↗

PubMed2025

Automated chromatin profiling with spa-ChIP-seq uncovers the impacts of condition variations.

Chromatin immunoprecipitation followed by sequencing (ChIP-seq) is widely used to study the genomic localization of DNA-associated proteins. However, conventional protocols include multiple manual steps that can introduce inconsistency and limit scalability, thereby restricting the inclusion of appropriate replicates and controls. Although the introduction of liquid handling platforms has improved reproducibility, most existing efforts have automated only a subset of the workflow, and extending automation to efficiently map non-histone proteins, such as chromatin regulators, remains challenging. Here, we present a fully automated implementation of our previously developed single-pot ChIP-seq protocol (Texari et al. 2021), named spa-ChIP-seq, which enables scalable processing of 8 to 96 ChIP-seq samples from crosslinked cells to sequencing-ready library in approximately three days with an estimated cost of $70 per sample. Benchmarking spa-ChIP-seq against manual ChIP-seq performed in parallel demonstrates comparable signal-to-noise ratio between the two workflows. Using spa-ChIP-seq, we systematically evaluate multiple parameters including shearing and crosslinking conditions, buffer compositions, and the ratio of antibody to cell-number. We find, for the first time to our knowledge, that weaker genomic localization signals are sensitive to changing the antibody to cell-number ratio, whereas the stronger signals remain unaffected. This finding underscores the importance of maintaining consistent antibody-to-cell-number ratio for comparative studies, such as treatment responses or chromatin-QTL mapping. The spa-ChIP-seq protocol is publicly available, including deck setups, operational parameters, and scripts. We envision that this robust, cost-efficient protocol will facilitate high-throughput, reproducible ChIP-seq analyses, supporting large-scale studies of antibody validation, compound screening, population genomics, and diagnostic frameworks.

Journal Article↗

PubMed1990

Pharmacologic review of thrombolytic agents.

Thrombolytic therapy has significantly reduced the morbidity and mortality that was once associated with acute myocardial infarction. Because of the substantial benefits associated with this therapy, investigation has intensified in search of the optimal agent or agents. Five agents are currently being investigated individually and in various combinations to determine which agent(s) will outperform the others in terms of reperfusion, patency, mortality reduction, and clinical events. Two of the agents, t-PA and scu-PA, are considered fibrin selective, whereas the other three, streptokinase, urokinase and APSAC are nonselective. Whether this distinction provides substantial benefit is still not known. All of the FDA-approved agents (streptokinase, t-PA, and APSAC) have demonstrated survival benefit and will continue to be administered in AMI patients. In addition, the 1990s begins a new era that includes broadened selection criteria for AMI patients as well as expanding cardiovascular indications for thrombolytic therapy. The challenge to nurses is to improve and implement nursing care practices at the same rapid pace set by the medical discipline. This includes astute assessment and observational skills necessary to prevent and detect potential complications associated with thrombolytic therapy. Rapidly changing medical techniques mandate ongoing nursing research, which is needed to determine the most effective interventions in reducing complications associated with thrombolytic therapy and in promoting positive adaptive behaviors in the AMI patient. Thrombolytic therapy is an intervention for the 1990s, and nursing care is essential in maintaining the beneficial effects of this dynamic therapy.

Blood Coagulation↗

PubMed1990

A new challenge for pediatric audiology: Public Law 99-457.

When fully implemented, the most recent amendments to the Education of the Handicapped Act will have a substantial impact on expanding services to infants and toddlers with handicapping conditions and their families. Audiologists in many settings will be called upon to participate in the implementation of this new mandate. It is imperative that audiologists be well informed about Public Law 99-457 as state and local policies are being developed and implemented. This article reviews the new law with emphasis on its implications for young hearing-impaired children, their families, and the audiologists who serve them.

Audiology↗

PubMedDate not supplied

Managing nutritional problems in people with AIDS.

The complicated clinical picture presented by people with AIDS is often exacerbated by compromised nutritional status. Oral and esophageal pain, diarrhea, malabsorption, and weight loss frustrate efforts to achieve or maintain adequate nutrition. It is, therefore, an important and challenging responsibility for nurses to ascertain and implement appropriate interventions to assist patients with HIV infections to improve their nutritional status, thereby potentially delaying disease progression and significantly contributing to improved quality of life.

Acquired Immunodeficiency Syndrome↗

PubMed1986

Dietary intake in the Multiple Risk Factor Intervention Trial (MRFIT): nutrient and food group changes over 6 years.

The Multiple Risk Factor Intervention Trial (MRFIT) was a randomized clinical trial in the primary prevention of coronary heart disease. Middle-aged men determined to be at high risk for coronary heart disease were randomized into either a special intervention (SI) group or a group referred to usual sources of medical care (UC). Twenty-four hour dietary recall data were used to monitor the nutrient intake of the MRFIT population and guide the nutrition education program for the SI group. The SI group of participants decreased intake of dietary cholesterol by 40% and saturated fatty acids by more than one-fourth and increased intake of polyunsaturated fatty acids by one-third. Evaluation of SI dietary intake data by food groups indicates that some dietary changes were relatively easy to implement, whereas others presented more of a challenge. Changes made with relative ease included increasing the consumption of fish and poultry, skim and low-fat milk, polyunsaturated margarines and oils, fruits, and low-fat breads and cereals and reducing the consumption of egg yolks. More difficult changes included eliminating, or even reducing, the intake of high-fat beef and pork, high-fat cheeses, high-fat crackers, snacks, and desserts, and increasing the intake of vegetarian meat alternatives.

Cholesterol, Dietary↗