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At least 1,207 records · Page 67Linked to original sources
PubMed1998

Rationale and design considerations for a semantic mediator in health information systems.

Rapid development of community health information networks raises the issue of semantic interoperability between distributed and heterogeneous systems. Indeed, operational health information systems originate from heterogeneous teams of independent developers and have to cooperate in order to exchange data and services. A good cooperation is based on a good understanding of the messages exchanged between the systems. The main issue of semantic interoperability is to ensure that the exchange is not only possible but also meaningful. The main objective of this paper is to analyze semantic interoperability from a software engineering point of view. It describes the principles for the design of a semantic mediator (SM) in the framework of a distributed object manager (DOM). The mediator is itself a component that should allow the exchange of messages independently of languages and platforms. The functional architecture of such a SM is detailed. These principles have been partly applied in the context of the HELIOS object-oriented software engineering environment. The resulting service components are presented with their current state of achievement.

Computer Communication Networks↗
PubMed1976

Quantitative measurement of demethylation of 14C-methoxyl labeled DMPEA and TMA-2 in rats.

Some reports have suggested that methylation and demethylation of compounds related to 6-hydroxydopamine may be involved in endogenous mental disorder. We report the synthesis of 3,4-dimethoxyphenethylamine (DMPEA) and 2,4,5-trimethoxyphenylisopropylamine (TMA-2) with each methoxyl group separately labeled with 14C. The rate and percent demethylation of these two compounds, with five labeled positions, were determined in the rat. The results suggest that TMA-2 might be metabolized to a hydroquinone in vivo; a similar metabolic intermediate of the psychoactive compound DOM is known to give rise in vitro to an indole.

Amphetamines↗
PubMed2026

PathMED: an R toolkit for single-sample molecular scoring and machine learning with omics data.

MOTIVATION: Molecular scoring is a popular approach for studying pathway-level functional alterations with omics data. Using molecular scores for tasks such as single-sample molecular characterisation, phenotype prediction or disease stratification has several advantages compared to using omics data directly. Molecular scores provide biological interpretability and are more generalisable across datasets, facilitating data integration and machine learning applications. However, numerous scoring methods are available through different software packages, and currently there is a lack of tools to easily use these scores for model training and prediction. RESULTS: We developed pathMED, an R/Bioconductor package that unifies various scoring methods in a simple framework. Furthermore, pathMED also contains a machine learning module to train and test models that use the calculated molecular scores to predict clinical outcomes. We demonstrate some of its potential applications in three use cases using public omics data. We showed the generalisability of machine learning models trained on transcriptomic scores in predicting clinical outcomes when deploying on proteomic scores. We also demonstrated the application of transcriptomics scores in predicting breast cancer treatment response and identifying pathways strongly associated to tumour biology and treatment response. Finally, we demonstrated the benefit of integrating a novel gene set dissection step into the analysis pipeline to resolve disease heterogeneity at the pathway level. AVAILABILITY: PathMED is freely available in the Bioconductor repository (https://bioconductor.org/packages/release/bioc/html/pathMED.html). Code to reproduce the analyses is publicly available at https://github.com/GENyO-BioInformatics/pathMED_article.

Software↗
PubMed2024

Genome-wide scan for selection signatures in Mexican Sardo Negro Zebu cattle.

The Sardo Negro cattle (SN) is the only zebu cattle breed developed in Mexico. Since its development, the selection could have led to an increase in the homozygosity level in some regions of the genome and made differentiation with other cattle populations. We aimed to identify and characterize selection signatures in SN using medium-density SNP data using four approaches: 1) Runs of homozygosity (ROH) 2) Nucleotide Diversity 3) Tajima's D and 4) the Wright's fixation index (FST). A sample of 555 SN animals genotyped for 65k SNPs was used to obtain ROH segments considered regions under selection. The FST values were estimated by comparing the sample of genotyped SN animals with samples of genotyped animals from the Gir, Brahman, and Ongole breeds. Only one region mapped to 35.78-42.51 Mb on BTA6 was considered a selection signature by the ROH method. This selection signature overlapped with the lowest diversity, negative values of Tajima's D and a diversification region between SN and the other Zebu breeds by FST. We found several candidate genes (LCORL, NCAPG, and SLIT2) related to growth and other economically important productive traits in this common region. Using the FST method, different regions, such as regions on BTA8 (8:93.4-93.9 Mb), BTA11 (11:99.2-99.7), and BTA14 (14: 26.1-26.8) related to growth and milk traits also were defined as candidate selection signatures. The selective signals identified in this study reflected the direction of the selection pressure that primarily involves the increase of live weight traits in the Sardo Negro cattle breeding program.

Animals↗
PubMed1981

Progressive pontobulbar palsy with deafness: clinical and pathological study of two cases.

Among the hereditary affections of the nervous system associated with deafness, a rare condition called "progressive pontobulbar palsy with deafness" has been described. In this slowly progressive condition, hearing loss and vestibular are-flexia are almost always the first symptoms, occurring in late childhood or early adulthood. Only 18 cases-some sporadic, several familial-have been published without a full report of pathological findings. The clinical and pathological data of two new cases-one familial, one sporadic-are described here. There are differences from other forms of bulbar paralysis, lower motor neuron diseases, and some spinocerebellar hereditary affections. In view of the homochrony and homotypy in familial cases and the pathological findings, progressive pontobulbar palsy with deafness appears to be an abiotrophic process wih autosomal recessive inheritance.

Adolescent↗
PubMed1995

Correlations between triplet repeat expansion and clinical features in Huntington's disease.

OBJECTIVE: To investigate possible correlations between the length of the (CAG)n trinucleotide repeat in Hungtington's disease gene IT15 and clinical features (age at onset, symptoms at onset, and mode of progression) in Huntington's disease. DESIGN: In 59 patients with Huntington's disease, the expansion of the (CAG)n trinucleotide repeat was determined and clinical data were obtained retrospectively. SETTING: The Center for Human Genetics, affiliated with a university hospital. PATIENTS: All patients belonged to an initial group of 248 individuals tested in an indirect predictive testing procedure. RESULTS: A good correlation was found between the expansion of the (CAG)n trinucleotide repeat and the age at onset (r = -.71). No correlation was found between the repeat length of the normal allele and the age at onset. No correlations were found between repeat expansion and other clinical features, such as the nature of the symptoms at onset (neurologic, psychiatric/cognitive, or both) and the mode of progression. CONCLUSION: Factors that determine the nature of symptoms at onset and the mode of progression of Huntington's disease seem to be operating independently of the (CAG)n trinucleotide repeat in gene IT15.

Age Factors↗
PubMed2026

High-Dose Intravenous Vitamin C and Mortality and Organ Dysfunction in Severe Burn Injury: The VICTORY Randomized Clinical Trial.

IMPORTANCE: Severe burn injury triggers systemic inflammation that can lead to multiple organ dysfunctions and death. High-dose intravenous vitamin C has been proposed to mitigate these effects, but strong evidence in patients with burn injury is lacking. OBJECTIVE: To evaluate the efficacy of high-dose intravenous vitamin C in patients with severe burn injury. DESIGN, SETTING, AND PARTICIPANTS: Randomized, double-blind, placebo-controlled phase 3 trial conducted across 24 burn centers in North, Central, and South America; Europe; and Asia. Adults (≥18 years) with deep second- and/or third-degree burns covering 20% or more of total body surface area and requiring skin grafting were enrolled between August 18, 2020, and September 12, 2025. Final follow-up was completed in March 2026. The trial was stopped early after the first prespecified interim analysis for futility/harm. INTERVENTIONS: Patients were randomly assigned (1:1) to receive intravenous vitamin C (50 mg/kg every 6 hours for 96 hours) or matched placebo. MAIN OUTCOMES AND MEASURES: The primary outcome was a composite of 28-day mortality and persistent organ dysfunction (defined as dependence on mechanical ventilation, kidney replacement therapy, or vasopressor/inotrope support at day 28). The main secondary outcome was time to discharge alive from hospital within 90 days. RESULTS: Among 238 patients enrolled (mean age, 48.9 [SD, 19.1] years; 79% male; mean total body surface area, 37.0% [SD, 14.6%]), 120 were assigned to vitamin C and 118 to placebo. The primary composite outcome occurred in 49 patients (40.8%) in the vitamin C group and 35 patients (29.7%) in the placebo group (adjusted risk ratio [RR], 1.28 [95% CI, 0.99-1.65]; P = .06), crossing the prespecified futility/harm threshold and prompting early trial termination. Time to discharge alive from hospital within 90 days was not improved (adjusted subdistribution hazard ratio, 0.85 [95% CI, 0.62-1.16]; P = .31). Twenty-eight-day mortality was higher in the vitamin C group (15.0% vs 7.6%; adjusted RR, 1.96 [95% CI, 1.32-2.90]; P = .001), as was hospital mortality (23.3% vs 16.1%; adjusted RR, 1.44 [95% CI, 1.03-2.00]; P = .03). CONCLUSIONS AND RELEVANCE: Among patients with severe burn injury, high-dose intravenous vitamin C did not reduce 28-day mortality and persistent organ dysfunction and is possibly harmful. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT04138394.

Humans↗
PubMed1996

Vaccinia virus serves as an efficient vector for expressing heterologous proteins in human NTera 2 neurons.

The human teratocarcinoma cell line NTera 2 (NT2) can be induced to differentiate into post-mitotic neurons possessing well-defined axonal and dendritic morphology. Highly enriched neurons (NT2-N cells) can be prepared in large numbers, thus combining many of the advantages of both primary and continuous cell culture systems. Unfortunately, it has proven difficult to express foreign genes in NT2-N cells. We examined whether vaccinia virus (VV) can express heterologous proteins in NT2-N cells and characterized the response of NT2-N cells to VV infection. NT2-N cells were infected with VV vectors expressing the envelope glycoprotein (gp160) from the human immunodeficiency type 1 virus (HIV 1). These vectors were chosen because VV-directed synthesis and post-translational processing of gp160 have been well characterized in many cell types. Approximately 85% of the neurons expressed gp160 which underwent native post-translational cleavage. The rate of gp160 synthesis was maximal at 5-48 hours postinfection, but was detectable for as long as 4 days. Surprisingly, NT2-N cells showed no VV-induced alterations in morphology, downregulation of host protein synthesis, or cytotoxicity, as measured by lactate dehydrogenase release. These results indicate that VV can serve as an efficient vector for introducing foreign genes in NT2-N cells without the cytotoxic effects often associated with VV infection. These properties, in conjunction with the advantages provided by NT2-N cells, provide new options for analyzing the cellular and molecular functions of human neurons.

Cell Death↗
PubMed1998

ChemR23, a putative chemoattractant receptor, is expressed in monocyte-derived dendritic cells and macrophages and is a coreceptor for SIV and some primary HIV-1 strains.

Leukocyte chemoattractants act through a rapidly growing subfamily of G protein-coupled receptors. We report the cloning of a novel human gene encoding an orphan receptor (ChemR23) related to the C3a, C5a and formyl Met-Leu-Phe receptors, and more distantly to the subfamilies of chemokine receptors. ChemR23 transcripts were found to be abundant in monocyte-derived dendritic cells and macrophages, treated or not with LPS. Low expression could also be detected by reverse transcription-PCR in CD4+ T lymphocytes. The gene encoding ChemR23 was assigned by radiation hybrid mapping to the q21.2-21.3 region of human chromosome 12, outside the gene clusters identified so far for chemoattractant receptors. Given the increasing number of chemoattractant receptors used by HIV-1, HIV-2 and SIV as coreceptors, ChemR23 was tested in fusion assays for potential coreceptor activity by a range of viral strains. None of the tested HIV-2 strains made use of ChemR23 as a coreceptor, but several SIV strains (SIVmac316, SIVmac239, SIVmacl7E-Fr and SIVsm62A), as well as a primary HIV-1 strain (92UG024-2) used it efficiently. ChemR23 therefore appears as a coreceptor for immunodeficiency viruses that does not belong to the chemokine receptor family. It is also a putative chemoattractant receptor relatively specific for antigen-presenting cells, and it could play an important role in the recruitment or trafficking of these cell populations. Future work will be required to identify the ligand(s) of this new G protein-coupled receptor and to define its precise role in the physiology of dendritic cells and macrophages.

Amino Acid Sequence↗
PubMed1991

Fryns syndrome without diaphragmatic hernia?

We report on a child with Fryns syndrome including lung hypoplasia, characteristic facial appearance, cleft palate, cardiac anomaly, distal limb abnormalities, absent nipples, bicornuate uterus and early death. In contrast to most patients with Fryns syndrome, diaphragmatic hernia was absent in our patient. However, the diaphragm was reduced to a fibrous web with reduced muscular component.

Abnormalities, Multiple↗
PubMed1994

Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies.

Hereditary neuropathy with liability to pressure palsies (NHPP) is an autosomal dominant disease of peripheral nerves, characterized by recurrent focal neuropathies often with an underlying asymptomatic polyneuropathy. We report the clinical, electrophysiological, and histopathological findings in three families with HNPP and confirm the presence of a deletion on chromosome 17p11.2, including all the markers known to be duplicated in Charcot-Marie-Tooth disease type 1A. This deletion appears to be the underlying molecular deficit in this disease and provides additional evidence for the importance of this locus for peripheral nerve function.

Adolescent↗
PubMed1996

Clinical and molecular genetic features of congenital spinal muscular atrophy.

A neonate presented with the fetal hypokinesia sequence and signs of spinal muscular atrophy (SMA). Severe pathological changes including ballooned neurons and neuronophagia were found not only in the motor nerve nuclei but also in the thalamic, cerebellar, and brainstem nuclei as well as in the dorsal root ganglia. Direct DNA analysis showed the presence of a chimeric SMN gene, with a rearrangement occurring between exon 7 of the centromeric SMN gene and exon 8 of the telomeric SMN gene. Circumstantial evidence suggests that only a single copy of this gene is present, with transcriptional characteristics of a centromeric SMN gene. In addition, a homozygous deletion in the NAIP genes was demonstrated. This observation demonstrates that at least some cases with fetal hypokinesia and SMA may represent the severe end of a spectrum of disorders caused by deletions in the SMA locus on chromosome 5q13. In addition, these findings are compatible with a modifying role for the centromeric SMN genes and the NAIP genes in the severity of the SMA phenotype.

Autoantigens↗
PubMed1997

The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees.

We report 2 families with X-linked infantile spasms syndrome (X-linked West syndrome). Data from clinical examination, biochemical analysis, neuroimaging, and neuropathology are discussed. In these families, genetic linkage analysis was able to locate the disease gene to the distal part of the short arm of the X chromosome, between Xpter and Xp11.4. This is the first report of linkage with genetic markers in this disorder. Although most cases are sporadic, further unraveling of the genetic background of the familial cases might greatly improve our understanding of infantile spasms.

Child, Preschool↗