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PubMed2005

Principles of haplotype mapping and potential applications to attention-deficit/hyperactivity disorder.

Approaches to the study of common, complex genetic disorders like attention-deficit/hyperactivity disorder (ADHD) are evolving rapidly. Traditional linkage and association mapping each have distinct roles to play. Rapid advances in genomic information and technologies make association studies more attractive, including the possibility in the near future of whole genome association scans. This review covers the following broad topics: 1) the principles of linkage and association analyses as they apply to ADHD, and 2) the implications of genome architecture for association studies of complex diseases like ADHD. The structure of linkage disequilibrium is approached through review of the statistical measures of allelic associations and their relationship to observed haplotypes. The patterns of haplotypes across the human genome are discussed, as well as the implications of linkage disequilibrium mapping for association studies in general and ADHD specifically. Finally, the extent to which the allelic architecture of a candidate ADHD gene is publicly available and the web resources to access this information are covered. Today, the wealth of polymorphism data available on the worldwide web enables researchers to focus powerful methodologic tools on candidate genes and regions of interest. Coupling this with larger patient collections and more refined phenotyping will move forward the identification of disease-associated polymorphisms and ultimately the development of genetically based pharmaceuticals and diagnostic tests.

Attention Deficit Disorder with Hyperactivity↗
PubMed2004

Term identification in the biomedical literature.

Sophisticated information technologies are needed for effective data acquisition and integration from a growing body of the biomedical literature. Successful term identification is key to getting access to the stored literature information, as it is the terms (and their relationships) that convey knowledge across scientific articles. Due to the complexities of a dynamically changing biomedical terminology, term identification has been recognized as the current bottleneck in text mining, and--as a consequence--has become an important research topic both in natural language processing and biomedical communities. This article overviews state-of-the-art approaches in term identification. The process of identifying terms is analysed through three steps: term recognition, term classification, and term mapping. For each step, main approaches and general trends, along with the major problems, are discussed. By assessing previous work in context of the overall term identification process, the review also tries to delineate needs for future work in the field.

Abbreviations as Topic↗
PubMed1999

Capillary electrophoresis/tandem mass spectrometry for analysis of proteins from two-dimensional sodium dodecyl sulfate polyacrylamide gel electrophoresis.

Capillary electrophoresis/time-of-flight mass spectrometry(CE/TOFMS) has been used for analysis of in-gel digests of protein spots excised from two-dimensional sodium dodecyl sulfate polyacrylamide gel electrophoresis (2-D SDS-PAGE). An off-line purification and preconcentration procedure with a Zip Tip is used before CE/TOFMS analysis which allows for detection of protein spots with <1 picomole of material from 2-D gels. The off-line procedure provides sufficient purification for analysis while maintaining the quality of the CE separation. Using this procedure, several proteins from Coomassie Blue and zinc negatively stained gels are identified by the peptide maps generated and database searching. CE/TOF tandem mass spectrometry is used for the confirmation of database searching results and structural analysis of peptides that do not match the expected peptide maps obtained from the database in order to identify structural modifications. Several modifications were pinpointed and identified by this method.

Adenocarcinoma↗
PubMed2000

Neonatal endocrinology.

Neonatal endocrinology is a diverse topic. Several chapters could be devoted to the endocrinology of fetal transition alone. The next several pages contain a brief overview of some pertinent illnesses. It is intended not to give an absolute map in the care of these patients but to help guide the physician in tailoring an approach for each patient based on current theories and practice parameters. It could also aid in improving the physician's understanding of screening laboratories used to identify those infants at risk of preventable, treatable and potentially disastrous diseases (i.e. congenial hypothyroidism). These metabolic screens are discussed due to their efficacy in the United States. In our experience, depending on the prevalence of a specific disease a few simple procedures allow for an efficient and economic way to reach ill children in a timely fashion. Other topics included in this article were reported based on their common occurrence, the lethality of illnesses if undiagnosed or their unique treatment. In the neonate hypoglycemia, either iatrogenic or secondary to sepsis, a congenital disorder of neisidioblastosis can have severe implications on the development of the CNS if not promptly treated and prevented. Some of these disorders require an experienced endocrinologist or neonatologist to treat and supervise conscientiously (i.e. CAH). However, as most of us know, it is sometimes hard to find such an individual in a community based practice. Therefore, it becomes of paramount value that each of us pays attention to the treatment of these illnesses for the sake of the children we care for.

Adrenal Hyperplasia, Congenital↗
PubMed2001

Use of satellite remote sensing and geographic information systems to model the distribution and abundance of snail intermediate hosts in Africa: a preliminary model for Biomphalaria pfeifferi in Ethiopia.

Geographic information system (GIS) risk models for the snail-borne diseases caused by Schistosoma spp. and Fasciola spp. have recently been developed based on climate and satellite-retrieved data on temperature and vegetation coverage. By using these models, it was possible to describe a relationship between vegetation index (Normalized Differences Vegetation Index (NDVI)), land surface temperature (T(max)) and disease prevalence, but little reference was made to the distribution of the corresponding intermediate host snail. Presence of the intermediate host snail is a key factor determining distribution of the disease in sub-Saharan Africa and a good snail distribution mode would probably mirror the endemic area of schistosomiasis. In the present analysis, it was shown that snail distribution data corresponds with schistosomiasis prevalence data in relation to a forecast model based on NDVI and T(max) data derived from the Advanced Very High Resolution Radiometer (AVHRR) onboard the National Oceanic and Atmospheric Administration satellite series. The 'best fit' model included NDVI values from 125 to 145 and a T(max) data range of 10-32 degrees C. This model included 92.3, 90.4 and 94.6% of the positive snail sample sites in GIS query overlay areas extracted from annual, dry season and wet season composite maps, respectively. For other sites in Africa, other NDVI and T(max) ranges may be more appropriate, depending on the species of snail present, a topic that will be examined in further studies.

Africa↗
PubMedDate not supplied

In vivo imaging of free radicals: applications from mouse to man.

Free radicals and other paramagnetic species, play an important role in cellular injury and pathophysiology. EPR spectroscopy and imaging has emerged as an important tool for non-invasive in vivo measurement and spatial mapping of free radicals in biological tissues. Extensive applications have been performed in small animals such as mice and recently applications in humans have been performed. Spatial EPR imaging enables 3D mapping of the distribution of a given free radical while spectral-spa-tial EPR imaging enables mapping of the spectral information at each spatial position, and, from the observed line width, the localized tissue oxygenation can be determined. A variety of spatial, and spectral-spatial EPR imaging applications have been performed. These techniques, along with the use of biocompatible paramagnetic probes including particulate suspensions and soluble nitroxide radicals, enable spatial imaging of the redox state and oxygenation in a variety of biomedical applications. With spectral-spatial EPR imaging, oxygenation was mapped within the gastrointestinal (GI) tract of living mice, enabling measurement of the oxygen gradient from the proximal to the distal GI tract. Using spatial EPR imaging, the distribution and metabolism of nitroxide radicals within the major organs of the body of living mice was visualized and anatomically co-registered by proton MRI enabling in vivo mapping of the redox state and radical clearance. EPR imaging techniques have also been applied to non-invasively measure the distribution and metabolism of topically applied nitroxide redox probes in humans, providing information regarding the penetration of the label through the skin and measurement of its redox clearance. Thus, EPR spectroscopy and imaging has provided important information in a variety of applications ranging from small animal models of disease to topical measurement of redox state in humans.

Animals↗
PubMed1993

Pattern variations of polyclonal and monoclonal immunoglobulins of different isotypes analyzed by high-resolution two-dimensional electrophoresis.

High-resolution two-dimensional polyacrylamide gel electrophoresis (2-D PAGE) was used to analyze serum samples and purified immunoglobulins (Ig) obtained from "normal" individuals and from patients diagnosed with monoclonal gammopathies (MG) (n = 47; 5 IgA, 15 IgM, 15 IgG, 4 biclonal IgG, 1 IgD, 7 Bence Jones proteins). Polyclonal and monoclonal heavy (H) chains were located at different restricted gel positions according to their isotype. Monoclonal H chains appeared as sets of spots characterized by charge (pI) and size (M(r)) microheterogeneity. Most of the monoclonal gamma chains were not seen on the gels (12/15). Supplementary polypeptides of 45-48 kDa were detected in serum samples containing monoclonal IgM, but were not seen in MG of other isotypes. However, these polypeptides were not specifically associated with monoclonal IgM because they were also found on protein maps of purified polyclonal IgM. Polyclonal light (L) chains appeared as cloudy bands containing several zones of higher density, whereas monoclonal L chains were usually resolved as single sharp spots. In 6 samples, monoclonal L chains were not seen, and in 9 samples, they appeared as two or more spots, characterized by different pI and/or M(r). In one sample obtained from a patient with a biclonal gammopathy, the L chains were resolved as 4 different spots. Our results confirm that 2-D PAGE is an excellent tool to study Ig. Analysis of the L chain region of the gels was particularly informative. Several monoclonal L chains exhibited heterogeneous two-dimensional spot patterns, suggesting that "subtile" clonal mutations of B-cell lineage and/or posttranslational modifications were involved in their production.

Antibodies, Monoclonal↗
PubMed1990

[The distribution of neurons in the caudate nucleus of the cat that respond to sensory stimulation and the organization of the topical projections].

It has been shown in chronic experiments that cells responding to somatic and visual stimuli are unevenly distributed in the caudate nucleus of a cat and areas of high and low activity alternate. Representational maps of somatic and visual space in the caudate nucleus are not single. These data as well as those on the morphological heterogeneity of the caudate nucleus suggest the presence of multiple somato- and retinotopic maps projecting independently on striosome surfaces.

Animals↗
PubMed1997

Use of the Internet for obstetricians and gynecologists.

The Internet is such a large unstructured body of information that it must be used to be understood. This article limits itself to the World Wide Web for information retrieval. Equipment and access methods are discussed but not in depth. Search engines and their use are discussed in greater detail and examples are given. Repetitive personal use is emphasized as the best possible method of learning. Liberal use of bookmarks is emphasized to build one's own map of this immense knowledge structure.

Computer Communication Networks↗
PubMed2006

A system for automated lexical mapping.

OBJECTIVE: To automate the mapping of disparate databases to standardized medical vocabularies. BACKGROUND: Merging of clinical systems and medical databases, or aggregation of information from disparate databases, frequently requires a process whereby vocabularies are compared and similar concepts are mapped. DESIGN: Using a normalization phase followed by a novel alignment stage inspired by DNA sequence alignment methods, automated lexical mapping can map terms from various databases to standard vocabularies such as the UMLS (Unified Medical Language System) and LOINC (Logical Observation Identifier Names and Codes). MEASUREMENTS: This automated lexical mapping was evaluated using three real-world laboratory databases from different health care institutions. The authors report the sensitivity, specificity, percentage correct (true positives plus true negatives divided by total number of terms), and true positive and true negative rates as measures of system performance. RESULTS: The alignment algorithm was able to map 57% to 78% (average of 63% over all runs and databases) of equivalent concepts through lexical mapping alone. True positive rates ranged from 18% to 70%; true negative rates ranged from 5% to 52%. CONCLUSION: Lexical mapping can facilitate the integration of data from diverse sources and decrease the time and cost required for manual mapping and integration of clinical systems and medical databases.

Algorithms↗
PubMed2004

Challenges in precisely aligning models of human anatomy using generic schema matching.

This paper describes how we used generic schema matching algorithms to align the Foundational Model of Anatomy (FMA) and the GALEN Common Reference Model (CRM), two large models of human anatomy. We summarize the generic schema matching algorithms we used to identify correspondences. We present sample results that highlight the similarities and differences between the FMA and the CRM. We also identify uses of aggregation, transitivity, and reification, for which generic schema matching fails to produce an accurate mapping and present manually constructed solutions for them.

Algorithms↗

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