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At least 973 records · Page 54Linked to original sources
PubMed2006

A guide to the genetics of psychiatric disease.

The road to scientific discovery begins with an awareness of what is unknown. Research in science can in some ways be like putting together the pieces of a puzzle without having the benefit of the box-top picture of the completed puzzle. The "picture" in science is an understanding of how nature works in a particular instance, and it takes many separate pieces of the "puzzle" to put this understanding together. These pieces are always of different kinds of data, often obtained using different approaches and techniques. The challenge of the researcher is to picture or hypothesize each of the missing pieces before actually having them in hand, so they can be sought and tested in the laboratory. This "picturing" is actually having a clear idea of what you don't know: having a clear image of the "shape" of the missing piece. This is easy when the puzzle surrounding the missing piece is already in hand, but more difficult with less of it constrained by what is already known. In putting paper puzzles together, the shape of the pieces is not the only limitation that needs to be satisfied. There is also the picture to satisfy, that is, the picture usually has to make sense. In science these constraints can be manifold, and usually the quality of the research is judged by the number of ways a piece of data integrates into and brings together the rest of the puzzle. The multidimensionality of scientific questions makes it virtually essential that as many different pieces of the puzzle as possible be obtained. The more that is not known about the puzzle, the more pieces you need. Thus it is with the genetics of psychiatric diseases. In this guide, we will explore as many of the domains of the genetic puzzle as we are aware of. We will learn a bit of the language of each and how they fit into the puzzle with at least one anecdote to serve as an example. Mapping unknown territory is always a process, but we hope this guide will increase the reader's awareness of what is unknown.

Alzheimer Disease↗
PubMed2004

What do we learn from high-throughput protein interaction data?

The biological significance of protein interactions, their method of generation and reliability is briefly reviewed. Protein interaction networks adopt a scale-free topology that explains their error tolerance or vulnerability, depending on whether hubs or peripheral proteins are attacked. Networks also allow the prediction of protein function from their interaction partners and therefore, the formulation of analytical hypotheses. Comparative network analysis predicts interactions for distantly related species based on conserved interactions, even if sequences are only weakly conserved. Finally, the medical relevance of protein interaction analysis is discussed and the necessity for data integration is emphasized.

Animals↗
PubMed2000

The use of socioeconomic factors in mapping tuberculosis risk areas in a city of northeastern Brazil.

In Brazil the challenge of meeting the needs of those living in deprived areas has generated discussions on replacing the existing approach to epidemiological surveillance with an integrated public health surveillance system. This new approach would supplant the traditional focus on high-risk individuals with a method for identifying high-risk populations and the areas where these persons live. Given the magnitude of the problem that tuberculosis (TB) poses for Brazil, we chose that disease as an example of how such a new, integrated public health surveillance system could be constructed. We integrated data from several sources with geographic information to create an indicator of tuberculosis risk for Olinda, a city in the Brazilian state of Pernambuco. In order to stratify the urban space in Olinda and to check for an association between the resulting TB risk gradient and the mean incidence of the disease between 1991 and 1996, we applied two different methods: 1) a "social deprivation index" and 2) principal component analysis followed by cluster analysis. Our results showed an association between social deprivation and the occurrence of TB. The results also highlighted priority groups and areas requiring intervention. We recommend follow-up that would include treating acid-fast bacilli smear-positive pulmonary TB cases, tracing of these persons' contacts, and monitoring of multidrug-resistant cases, all in coordination with local health services.

Brazil↗
PubMed2002

[Geographic information systems as a tool for monitoring health inequalities].

OBJECTIVE: To show how geographic information systems (GISs) can be used as technological tools to support health policy and public health actions. METHODS: We assessed the relationship between infant mortality and a number of socio-economic and geographic determinants. In explaining how GISs are applied, we stressed their ability to integrate data, which makes it possible to perform epidemiologic evaluations in a simpler, faster, automated way that simultaneously analyzes multiple variables with different levels of aggregation. In this study, GISs were applied in analyzing infant mortality data with three levels of aggregation in countries of the Americas from 1995 to 2000. RESULTS: Infant mortality in the Region of the Americas was estimated at an overall average of 24.4 deaths per 1,000 live births. However, the inequalities that were found indicate that the probability of an infant death is almost 20 times greater in the less developed countries of the Region than in more developed ones. Mapping infant mortality throughout the Region of the Americas allowed us to identify the countries that need to focus more attention on health policy and health programs, but not to determine what specific actions are of the highest priority. An analysis of smaller geopolitical units (states and municipalities) revealed important differences within countries. This shows that, as is true of data for the entire Region of the Americas, using national-level average figures for indicators can obscure the differences that exist within countries. When we examined the relationship between female illiteracy and malnutrition as determinants of infant mortality in Brazil and Ecuador, we identified social and epidemiologic strata where risk factors had different distribution patterns and that thus require health interventions that match their individual social and epidemiologic profiles. CONCLUSIONS: With this type of epidemiologic study using GISs at the local level of health services, it is easy to see how a health event and its risk factors behave at a specific period in time. It is also possible to identify patterns in the spatial distribution of risk factors and in these factors' potential impact on health. Using GISs in an appropriate way will make it easier to deliver more effective, equitable public health services.

Americas↗
PubMed2001

Assessment of hypercholesterolemia control in a managed care organization.

To determine the extent of achievement of goal low-density lipoprotein cholesterol (LDL) as defined by National Cholesterol Education Program-Adult Treatment Panel II (NCEP-ATP 11) and American Diabetes Association (ADA) 2000 guidelines, we conducted a retrospective study by integrating data from medical, laboratory, and pharmacy claims databases. Subjects were selected from a 232,000-member staff-model managed care organization consisting of 19 clinics in the Minneapolis-St. Paul, Minnesota, metropolitan area. A total of 124,971 members aged 18 years and older, who had been continuously enrolled from July 1, 1996-June 6, 1998, were included. Outcome measures were the extent of achievement of goal LDL as defined by NCEP-ATP II and the use of antihyperlipidemic drugs for patients with and without diabetes at various levels of risk for coronary heart disease (CHD). Of 124,971 subjects, 6538 had a history of CHD, 1523 of whom met their LDL goal. Of the population with CHD who did not achieve goal, 1141 (43%) missed by over 30 mg/dl; 621 (54%) of these patients were not receiving drug therapy A total of 17,267 had no history of CHD but had two or more risk factors; 3,298 of these achieved their LDL goal. Of those who did not achieve goal, 1,136 (35%) missed by over 30 mg/dl; 897 (79%) of these were not receiving drug therapy A total of 6,586 had a history of diabetes; 1,004 and 2,340 reached an LDL of 100 mg/dl or lower and less than 130 mg/dl, respectively Of those with diabetes who had an LDL greater than 100 mg/dl, 1,276 (49%) missed their goal by over 30 mg/dl; 898 (70%) of these were not receiving drug therapy. Inadequate use of pharmacologic agents plays a significant role in failure to achieve goal LDL for patients with CHD, without CHD, and with diabetes. Analysis of the data based on the new ADA guidelines for LDL demonstrates the need for continued vigilance. Finally, the successful merging of medical, laboratory, and pharmacy claims databases provides a benchmark for other institutions.

Adult↗
PubMed2006

Mechanisms controlling embryonic stem cell self-renewal and differentiation.

Embryonic stem (ES) cells are pluripotent cells with indefinite replication potential and ability to differentiate into all types of cells. An understanding of the regulatory mechanisms responsible for pluripotency in ES cells is critical for realizing their potential in regenerative medicine and science. Cross-species studies on ES cells have identified pathways and networks that are either fundamental to or species-specific for self-renewal and differentiation. Although pluripotency as an essential function in multicellular organisms is conserved through evolution, mechanisms primed for differentiation contribute substantially to the differences among stem cells derived from different tissues or species. Transcriptome mapping analysis has determined the chromosomal domains of gene coexpression patterns specific to the ES state and demonstrated that regulation of ES cell development is operative at both the local chromosomal domain level and global level. Combinatorial signals from multiple pathways regulate the expression of key intrinsic factors critical for ES cell fate determination. The regulatory core formed by Oct4, Sox2, and Nanog, in particular, activates genes critical for self-renewal and represses genes initiating differentiation, controlling ES cell pluripotency. Here, we review recent findings on mechanisms controlling ES cell development. By integrating data from different sources, we present a global picture of how ES cells reach the decision of self-renewal or differentiation.

Animals↗
PubMed1990

Using parents as therapists to evaluate appropriate behavior of their children: application to a tertiary diagnostic clinic.

We conducted a preliminary analysis of maintaining variables for children with conduct disorders in an outpatient clinic. Eight children of normal intelligence between the ages of 4 and 9 years were evaluated during 90-min sessions. The children's parents conducted the assessments by varying task demands (easy and difficult) and parental attention (attention and no attention) within a multielement design. The assessment focused on appropriate child behavior and was conducted to formulate hypotheses regarding maintaining contingencies. Results demonstrated that the children's appropriate behavior varied across assessment conditions and, for 7 of the 8 children, occurred at a higher rate during one condition than during other conditions. In addition, treatment integrity data demonstrated that parents were able to implement the procedures as intended. The recommended treatments were rated as being both effective and acceptable to parents for up to 6 months following the evaluation. Our results extend previous studies of functional analytic procedures conducted by trained experimenters with severely handicapped children in more controlled settings.

Attention↗
PubMed2005

Life-years gained from modern cardiological treatments and population risk factor changes in England and Wales, 1981-2000.

OBJECTIVES: We estimated life-years gained from cardiological treatments and cardiovascular risk factor changes in England and Wales between 1981 and 2000. METHODS: We used the IMPACT model to integrate data on the number of coronary heart disease patients, treatment uptake and effectiveness, risk factor trends, and median survival in coronary heart disease patients. RESULTS: Compared with 1981, there were 68230 fewer coronary deaths in 2000. Approximately 925415 life-years were gained among people aged 25-84 years (range: 745 195-1 138 655). Cardiological treatments for patients accounted for approximately 194145 life-years gained (range: 142505-259225), and population risk factor changes accounted for approximately 731270 life-years gained (range; 602695-879430). CONCLUSIONS: Modest reductions in major risk factors led to gains in life-years 4 times higher than did cardiological treatments. Effective policies to promote healthy diets and physical activity might achieve even greater gains.

Adult↗
PubMed2005

Legislating "sound science": the role of the tobacco industry.

In the late 1990s, in an effort to dispute the link between secondhand smoke and lung cancer, Philip Morris initiated a campaign to legislate "sound science." The campaign involved enacting data access and data quality laws to obtain previously confidential research data in order to re-analyze it based on industry-generated data quality standards. Philip Morris worked with other corporate interests to form coalitions and work-groups, develop a "data integrity" outreach program, sponsor symposia on "research integrity," and draft language for the new acts. The tobacco industry played a role in establishing laws that increase corporate influence on public health and regulatory policy decisions.

Expert Testimony↗
PubMed2002

Nondestructive quality control for microarray production.

The use of microarrays to monitor gene expression has become a standard research tool at both academic and industrial research institutions. Quality control of common printing defects during DNA deposition onto glass substrates is critical to maintaining data integrity and preventing the needless consumption of precious RNA, labeling reagents, and time. Here we demonstrate a nondestructive method for monitoring the quality of every spot on every chip of a microarray production run. We have identified many common manufacturing defects, while not perturbing the attachment of our oligonucleotide target to the substrate or altering further hybridization. This protocol is simple, fast, and inexpensive.

Carbocyanines↗
PubMed2004

Comparisons of hypertension-related costs from multinational clinical studies.

BACKGROUND: This study identifies and compares the individual cost components of hospital and ambulatory services that manage the care of hypertensive patients in eight countries: the US, the UK, France, Spain, Germany, Italy, Canada and Australia. METHODS: Hypertension-related costs are classified according to four major cardiovascular events: (i) acute myocardial infarction; (ii) congestive heart failure; (iii) stroke; and (iv) renal failure, which was subdivided into renal failure treated by dialysis and renal failure treated by kidney transplantation. To make cross-country costs comparisons, we used the DRG codes used in the US and DRG-like codes from each country. US cost information was obtained from hypertension data available from the literature and health economics researchers. For costs in other countries, we consulted with national health economics experts in each country, used analyses by the Research Triangle Institute, and performed Medline and international literature searches. When available, we obtained information from the countries' public and private nationally representative data sources. For cross-country currency adjustments, all currencies were converted using the Purchasing Power Parities from the Organisation for Economic Cooperation and Development, and then converted into inflation-adjusted year 2000 US dollars. RESULTS: There exists considerable variation in hypertension-related costs from multinational clinical studies. This study documents that costs are generally higher in the US than in other countries; however, this is not always true. In particular, costs of treating heart failure in France and the costs of renal failure without transplantation in Germany and the UK are relatively high. DISCUSSION: While analysing multinational hypertensive cost data, this study also addresses the impact of cross-country cost variations on cost analyses. During the last decade, drug-development researchers have drawn extensively upon multinational trials to resolve enrollment problems and drug-registration issues. At the same time, formulary decision-makers are increasingly demanding multinational cost-effectiveness analyses of the clinical differences found between drug-treatment regimens. Since these data are typically not captured by randomised clinical trials, standard cost estimates must be applied to the clinical trials' resource data, although such standardised calculations do not necessarily account for clinical and cost variations between countries. CONCLUSION: This paper serves as an instrument for identifying which national and event cost data are comparable for analysis as well as highlighting specific problem areas for cost data integration. Although the study focuses on hypertension-related costs, its results may provide insight for multinational cost comparisons of other diseases where similar hospitalisation costs may be analysed.

Ambulatory Care↗
PubMed2005

In vitro methods to study chemically-induced hepatotoxicity: a literature review.

Understanding the hepatotoxicity of drugs and chemicals is essential for progress in the pharmaceutical industry, medical science and academic research. The study of hepatotoxicity in vitro is complicated by the difficulty of maintaining hepatocytes in culture due to a lack of understanding of the humoral and matrix requirements of these cells. A variety of in vitro models of the liver have been developed, such as perfused livers, liver slices and three-dimensional perfused bioreactors, but the static cell culture is the most commonly used system. In this review we present the advantages and disadvantages of each system and their roles in the study of hepatotoxicity. We will also discuss how the various culture conditions such as medium and matrix composition affect the systems. The technological advances, which started the fields of genomics, proteomics and metabonomics are playing a very important role in uncovering novel biochemical pathways and markers of toxicity. Several of these studies have focused on hepatotoxicity, particularly on the effects of acetaminophen, carbon tetrachloride and aflatoxin B1. Finally, we will discuss the new field of systems biology, which focuses on interpreting and integrating data from all of the other fields.

Animals↗
PubMed2004

Quinolone-resistant Campylobacter infections: risk factors and clinical consequences.

We integrated data on quinolone and macrolide susceptibility patterns with epidemiologic and typing data from Campylobacter jejuni and C. coli infections in two Danish counties. The mean duration of illness was longer for 86 patients with quinolone-resistant C. jejuni infections (median 13.2 days) than for 381 patients with quinolone-sensitive C. jejuni infections (median 10.3 days, p = 0.001). Foreign travel, eating fresh poultry other than chicken and turkey, and swimming were associated with increased risk for quinolone-resistant C. jejuni infection. Eating fresh chicken (of presumably Danish origin) was associated with a decreased risk. Typing data showed an association between strains from retail food products and broiler chickens and quinolone-sensitive domestically acquired C. jejuni infections. An association between treatment with a fluoroquinolone before stool-specimen collection and having a quinolone-resistant C. jejuni infection was not observed.

Adult↗
PubMed2026

Biological Foundation Models for Complex Disease Research and Clinical Translation.

Complex diseases, including cancer, rare genetic disorders, neurodevelopmental and psychiatric conditions, and neurodegenerative diseases, arise from interactions among genetic variation, gene regulation, and cellular states that are difficult to capture using a single data type or biological scale. Biological foundation models address this challenge by treating nucleotides and genes as tokens and learning representations that can be transferred to downstream biomedical and clinical tasks. In this review, we examine two major model classes, genomic sequence foundation models and cell foundation models, and compare their tokenization strategies, model architectures, pretraining objectives, and adaptation methods. We summarize their emerging applications in regulatory variant interpretation, disease-associated cell-state analysis, drug-response prediction, and therapeutic target discovery across complex diseases. We distinguish applications supported by experimental or retrospective validation from those that remain primarily computational or conceptual. We further discuss key challenges to clinical translation, including multimodal data integration, model interpretability, benchmarking, patient-specific prediction, and privacy protection. We highlight future opportunities to integrate biological foundation models with emerging frameworks of medical digital twins, agentic AI, and federated learning. By linking model design to translational goals, this review provides a practical framework for evaluating biological foundation models and their readiness for complex disease research and clinical use.

biological foundation model↗
PubMed2002

A turn-key transportable eye-tracking instrument for clinical assessment.

This paper describes a combined instrument (eye tracker and target generator, both head mounted, with integrated data analysis) that tests parameters of saccadic eye movement and fixation control to give insight into the status of functional brain systems. Using three minilasers, the target generato rprojects three visual stimuli, a fixation point and two lateral stimuli, with programmable timing. The controller allows the selection of overlap, 200-msec gap, or remembered saccade trials. Size, maximal velocity, and reaction time are determined for each primary saccade. The number of prosaccades and antisaccades are counted. More saccades--for example, the occurrence and latency of corrective saccades--may be evaluated off line by an interactive PC analysis program. The eye position data can be transferred to a PC. Off-line analysis compares each observed variable relative to an age-matched control group (300 healthy control subjects 7-70 years of age, tested in the overlap condition with prosaccade instructions and in the gap condition with antisaccades). The diagnostic results can be used to elaborate an individual optomotor training program.

Fixation, Ocular↗
PubMed2002

A comparative guide to gene prediction tools for the bioinformatics amateur.

Several hundred programs using different algorithms have been designed to predict individual coding features within any genomic sequence, but none of these tools covers all aspects of a gene or is 100% accurate in its prediction. Automated simultaneous processing of the results from a number of these programs minimizes the chance of a false positive prediction and quickly generates integrated data. We report here on the analysis of two known genes in 5 and 25 kb segments of genomic sequence using four genome annotation packages, NIX, RUMMAGE, Genotator and EMBOSS. Gene predictions were confirmed using cDNA sequences and a comparison was made between the packages. This study showed a similarity in the ability of NIX, RUMMAGE and Genotator to predict well-characterised genes and basic structures, but poor exon prediction for a small, 3 exon gene. However, the BLAST subprograms of all three packages correctly identified the 3 exons. In addition, EST BLAST subprograms identified a previously undescribed, possible 5' untranslated exon for the smaller gene and a number of putative alternatively spliced exons in the larger gene. Overall, NIX was found to be the most user-friendly package, in terms of easy access to databases and the interactive graphical display of results.

Algorithms↗
PubMed1993

Concept clarification and critical thinking: integrated processes.

Concept clarification is centrally important to theory development. While often understood as a formula-driven task, concept clarification is really a process that engages critical thinking. Clarification creates multiple meanings through: (1) formulating purposes, (2) choosing, examining, and integrating data sources, and (3) representing a final conceptualization that can also be examined for adequacy. Within each of these processes, critical thinking is engaged as: (1) assumptions are identified and challenged, (2) the importance of context in creating meaning is revealed, (3) alternative interpretations are imagined and explored, and (4) reflective skepticism is cultivated. The central challenge in concept clarification is to understand how words create things.

Clinical Competence↗
PubMed2026

mRNA therapy: A novel approach for retinal neurodegenerative diseases.

Retinal neurodegeneration remains a major cause of irreversible vision loss, yet current therapeutic options are limited in effectiveness. Although gene therapies have shown clinical potential, the overexpression platforms they rely on, such as adeno-associated virus DNA, are constrained by safety concerns, limited efficacy, and cargo size restrictions. In contrast, mRNA therapy has gained recognition as a compelling alternative, enabling rapid and efficient protein expression without the risk of genomic integration. This review synthesizes recent advances in mRNA engineering, delivery systems, and administration routes for retinal applications, and highlight strategies to enhance targeting, penetration, and controlled release through interdisciplinary collaboration between ophthalmology and bioengineering. In recent years, engineered mRNA formats, including chemically modified linear, circular, and self-amplifying RNA, can achieve higher translation efficiency within a tunable expression window. The transient nature and relatively low immunogenicity of in vitro transcribed mRNA support repeat dosing without insertional mutagenesis. Advances in nanocarriers, particularly lipid nanoparticles, have enabled preferential delivery to retinal neurons, Müller glia, and pigment epithelium via intraocular administration, while improving mRNA stability and transfection efficiency. In preclinical studies, mRNA has been widely used to deliver gene-editing tools, transcription factors, and supplementary functional proteins. In disease models such as optic nerve crush and laser-induced choroidal neovascularization, mRNA-based therapies enhance neuroprotection and suppress pathological angiogenesis in the injured retina, with favorable ocular safety profiles. However, it remains largely unexplored how the intrinsic advantages of mRNA therapy can be leveraged to develop tailored strategies for complex retinal disorders. Consistent with this gap, mRNA platforms have not yet been widely incorporated into retinal research or clinical practice. In parallel, clinical translation also lags: despite encouraging outcomes of lipid nanoparticle-mRNA formulations in preclinical models, no candidates have progressed into retinal clinical trials. This review draws on the complex pathology and therapeutic logic of retinal neurodegeneration. It proposes that mRNA therapy enables multitarget, repeatable, stage-specific interventions that align with the dynamic evolution of diseases and the requirements of combination therapy in retinal diseases. It may be used to support neuroprotection, axon regeneration, and neurovascular regulation. By integrating data across experimental models and modalities, this review outlines representative cases and experimental paradigms to guide rational trial design and carrier selection. Taken together, technical progress and evolving application strategies position mRNA therapy as a compelling therapeutic avenue for retinal neurodegeneration.

administration↗