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PubMed1993

Turner syndrome patients as adults: a study of their cognitive profile, psychosocial functioning and psychopathological findings.

In this study we collected data on the cognitive abilities, psychosocial adjustment and psychopathology of 20 non-institutionalized adult Turner syndrome patients. The majority of them had a normal intelligence, most were socially well adapted and no high prevalence of psychopathology was noted. In only one patient evidence of a serious bipolar hypomanic disorder and antisocial personality was found, and in one other an episode of anorexia nervosa. Nevertheless, 50% of the women expressed feelings of low self-confidence, depression and social insecurity i.e. achieving a mature level of psycho-social functioning remains a problem for a number of Turner individuals. In the counseling process of adult Turner patients special attention should be given to the social and psychological functioning so that intervention can be made if social awkwardness and psychological well-being becomes a problem.

Adaptation, Psychological↗
PubMed2026

Metabolic reprogramming and taxonomic drivers in bacterial vaginosis: A large-scale metagenomic meta-analysis.

OBJECTIVE: Bacterial vaginosis (BV) represents a profound ecological shift from a Lactobacillus-dominated microbiota to a diverse polymicrobial biofilm associated with adverse outcomes. While taxonomic signatures are well-documented, the functional mechanisms driving this transition remain obscured. This study elucidates the genomic potential for metabolic reprogramming and the putative "functional handover" underpinning the stability of the dysbiotic state. METHODS: A computational meta-analysis of 3557 vaginal microbiomes from diverse global cohorts was performed using the standardized MGnify pipeline. A high-resolution subset of 187 whole-genome shotgun (WGS) metagenomes was stratified to compare functional potential across demographic groups. Taxon-function interaction networks were constructed, utilizing a dual-filter statistical approach (p&#x202f;<&#x202f;0.05 and effect size ranking), to map the shift from homeostatic maintenance to dysbiotic metabolic potential. RESULTS: BV was characterized by a fundamental shift from "maintenance" pathways to high-turnover "growth-oriented" genomic repertoires. While ABC transporter-like domains were present in healthy communities, dysbiosis was marked by a quantitative expansion and diversification of these systems alongside P-loop NTPases. Network analysis revealed a putative "functional handover": while Gardnerella serves as the adherent structural scaffold, the metabolic burden appears to be associated with secondary anaerobes, specifically BVAB1 and Sneathia, which exhibit strong genomic correlations with nutrient transport and stress response pathways. Crucially, microbiomes from women of African ancestry (Black cohort) exhibited a distinct functional profile with genomic signatures consistent with functions previously associated with resistome expansion (e.g., tetracycline/macrolide resistance), contrasting with Asian cohorts. CONCLUSION: BV is a state of metabolic reprogramming where genomic functional dominance is transferred from Lactobacillus to a cooperative network of anaerobic opportunists. Identifying BVAB1 and Sneathia as candidate metabolic engines, supported by a Gardnerella scaffold, challenges current therapeutic paradigms and highlights the potential for precision medicine targeting specific functional drivers and resistome profiles across diverse populations.

Humans↗
PubMed2001

Modulational instability in nonlocal nonlinear Kerr media.

We study modulational instability (MI) of plane waves in nonlocal nonlinear Kerr media. For a focusing nonlinearity we show that, although the nonlocality tends to suppress MI, it can never remove it completely, irrespective of the particular profile of the nonlocal response function. For a defocusing nonlinearity the stability properties depend sensitively on the response function profile: for a smooth profile (e.g., a Gaussian) plane waves are always stable, but MI may occur for a rectangular response. We also find that the reduced model for a weak nonlocality predicts MI in defocusing media for arbitrary response profiles, as long as the intensity exceeds a certain critical value. However, it appears that this regime of MI is beyond the validity of the reduced model, if it is to represent the weakly nonlocal limit of a general nonlocal nonlinearity, as in optics and the theory of Bose-Einstein condensates.

Journal Article↗
PubMed2005

ProfNet, a method to derive profile-profile alignment scoring functions that improves the alignments of distantly related proteins.

BACKGROUND: Profile-profile methods have been used for some years now to detect and align homologous proteins. The best such methods use information from the background distribution of amino acids and substitution tables either when constructing the profiles or in the scoring. This makes the methods dependent on the quality and choice of substitution table as well as the construction of the profiles. Here, we introduce a novel method called ProfNet that is used to derive a profile-profile scoring function. The method optimizes the discrimination between scores of related and unrelated residues and it is fast and straightforward to use. This new method derives a scoring function that is mainly dependent on the actual alignment of residues from a training set, and it does not use any additional information about the background distribution. RESULTS: It is shown that ProfNet improves the discrimination of related and unrelated residues. Further it can be used to improve the alignment of distantly related proteins. CONCLUSION: The best performance is obtained using superfamily related proteins in the training of ProfNet, and a classifier that is related to the distance between the structurally aligned residues. The main difference between the new scoring function and a traditional profile-profile scoring function is that conserved residues on average score higher with the new function.

Models, Genetic↗
PubMed2000

Cluster, function and promoter: analysis of yeast expression array.

Gene clusters could be derived based on expression profiles, function categorization and promoter regions. To obtain thorough understanding of gene expression and regulation, the three aspects should be combined in an organic way. In this study, we explored the possible ways to analyze the large-scale gene expression data. Three approaches were used to analyze yeast temporal expression data: 1) start from clustering on the expression profiles followed by function categorization and promoter analysis, 2) start from function categorization followed by clustering on expression profiles and promoter analysis, and 3) start from clustering on the promoter region followed by clustering on expression profiles. For clustering analysis on the time-series data, we developed a largest-first algorithm, which provide a mechanism for quality control on clusters. For promoter analysis, we developed a core-extension algorithm.

Algorithms↗
PubMed1995

Fine structure of vesiculated nerve profiles in the human lumbar facet joint.

The ultrastructural features of vesiculated nerve profiles were examined within a perivascular plexus of unmyelinated nerve fibres around small arteries and arterioles in the posterior facet joint capsule. Such profiles were exclusively observed in the dense fibrous layer and the adjacent part of the subintimal layer. The ligamentum flavum lacked any type of innervation. The vesiculated nerve profiles were tentatively classified on the basis of the fine structural appearances of their vesicular content. Two major types of nerve profiles could readily be distinguished in the capsular tissue. Both displayed a variable number of mitochondria, neurotubules and neurofilaments. The first type, containing predominantly small vesicles with an electron-dense granule or core, was frequently encountered and considered to be adrenergic in function. Profiles similar in morphology were also observed in the synovial plical tissue. A second type of profile, found in the joint capsule, contained varying proportions of small agranular (clear) vesicles and mitochondria. Some of these profiles exhibited an accumulation of mitochondria and were considered to be sensory in function. Nerve profiles filled with predominantly small flattened vesicles were occasionally encountered.

Adult↗
PubMedDate not supplied

A new description of the photon beam peak-depth profile as a function of field size.

The dose profile at peak depth in water is described as the product of an apparatus function and a source function. In principle, the source function is the circularly symmetric profile which would be measured at peak depth without any collimation. In practice, the peak-depth profile in the diagonal plane, measured for the largest collimator setting, is used for this purpose. The apparatus function represents the collimator acting upon the source function, and is referred to as the collimator function. The collimator function for any field size can be developed from the ratio of the peak-depth profile for a single medium-sized field and the source function. The method has been tested for a set of irregularly flattened 4-MV x-ray beams as well as for practically flat 15-MV x-ray beams. The model requires as basic data only three peak-depth profiles: one in each principal plane of a medium-sized square field and the peak-depth profile in the diagonal plane for the largest field. It replaces the peak-depth transformation in the projective beam model.

Humans↗
PubMed2026

Imaging-Guided Omics Technologies for Resolving Rare Cancer States and Advancing Nanomedicine.

The ability to resolve rare and transient cellular states is critical for understanding metastasis, immune evasion, and therapy resistance in cancer, yet these dynamic processes often escape detection by conventional sequencing and imaging approaches. Recent advances at the interface of nanotechnology, high-resolution live-cell imaging, and single-cell/spatial multiomics methods have enabled functional profiling of cells with unprecedented precision within their native microenvironment. In this Mini-Review, we highlight emerging nanoscale platforms that couple real-time phenotypic imaging with molecular readouts, such as FUNseq and CIN-seq, to directly link functional heterogeneity to transcriptomic, proteomic, and epigenomic information. By integrating nanoscale optical imaging, microengineered perturbation tools, and AI-driven computational analysis, these technologies open up new avenues for dissecting rare metastatic, therapy-resistant, or immune-evasive subpopulations. We further discuss how these next-generation imaging-guided single-cell and spatial omics platforms not only advance fundamental cancer biology but also create opportunities to accelerate the development of nanomedicine applications.

Humans↗
PubMedDate not supplied

Is neurotoxicity associated with environmental trichloroethylene (TCE)?

Individuals who lived near 2 electronic manufacturing plants were exposed to odorous chlorinated solvents by inhalation (directly) and by out gassing from well water. An exposure zone was defined by concentrations of trichloroethylene, 1,1,1-trichloroethane, tetrachloroethylene, and vinyl chloride in groundwater. The author adopted trichloroethylene as a "shorthand" for the exposure designation. Residents complained of impaired recall and concentration, and of dizziness; therefore, the focus of this investigation was brain functions. Neurobehavioral functions, Profile of Mood States, frequencies of 35 symptoms, and questionnaire responses provided by 236 residents from exposure zones were compared with responses provided by 161 unexposed regional referents and by 67 Phoenix residents who lived outside the exposure zone areas. Pulmonary functions were measured with spirometry. Residents of the exposure zones were compared with regional referents, and the former had significantly (p < .05) delayed simple and choice reaction times, impaired balance, delayed blink reflex latency R-1, and abnormal color discrimination. In addition, these individuals had impaired (1) cognitive functions, (2) attention and perceptual motor speed, and (3) recall. Individuals who lived in exposure zones had airway obstructions. Adverse mood state scores and frequencies of 33 of 35 symptoms were elevated. In conclusion, individuals who lived in the exposure zones had neurobehavioral impairments, reduced pulmonary functions, elevated Profile of Mood State scores, and excessive symptom frequencies.

Adolescent↗
PubMed2003

No evidence of a homogeneous frontal neuropsychological profile in a sample of schizophrenic subjects.

The authors obtained a frontal functions profile for 81 schizophrenic patients using six neuropsychological tests that evaluate the dorsolateral prefrontal cortex functions, i.e., working memory, executive functions, and strategic performance. They then analyzed the test performances with a cluster analysis, which produced a four-cluster solution. The results support the hypothesis that neuropsychological dysfunctions in schizophrenia are heterogeneous. The performances on many of the neuropsychological tests were also strongly correlated with verbal and nonverbal IQ, as measured by the Wechsler Adult Intelligence Scale-Revised.

Adult↗
PubMed1988

Genetic profile of the transcriptional signals from the adenovirus major late promoter.

Identical functional profiles were obtained for in vivo and in vitro transcription assays of more than 30 site-directed point mutants within the adenovirus major late promoter. The functional limits of the functional regions encompassing upstream promoter element are defined (-51 to -61), as well as a region around the transcription start site (-1 to +1), flanked by regions insensitive to sequence alterations.

Adenoviridae↗
PubMedDate not supplied

[Feeding and assessment of nutritional status of spanish adolescents (AVENA study). Evaluation of risks and interventional proposal. I.Methodology].

BACKGROUND: Adolescence is a decisive period in human life due to the multiple physiological and psychological changes that take place. These changes will condition both nutritional requirements and eating/physical activity behavior. It has been demonstrated that these "adolescence" factors are of significant influence in health status during adult life. Due to its importance and adequate development the project has been granted by the Fondo de Investigación Sanitaria of the Institute of Health Carlos III. OBJECTIVE: To develop a methodology to evaluate the health and nutritional status of a representative population of Spanish adolescents. Specific attention is paid to three specific health problems: obesity, anorexia nervosa/bulimia, dislipidemia. METHODOLOGY: The following magnitudes will be studied: 1) dietary intake, food habits and nutrition knowledge; 2) daily physical activity and personal approach; 3) physical condition; 4) anthropometry and body composition; 5) hematobiochemical study: plasma lipid phenotypic and metabolic profile, blood cell counts; 6) genotipic profile of cardiovascular risk lipid factors; 7) immune function profile related to nutritional status; 8) psychological profile. CONCLUSION: This project includes the co-ordinate activity of five Spanish centers of five different cities (Granada, Madrid, Murcia, Santander, Zaragoza). Each center is specialized in a specific area and will be responsible for the corresponding part of the study. From the data obtained, we will elaborate a specific intervention program in order to improve nutrition and neutralize the risk for nutritional related problems in adolescence. By this, we will contribute to improve the health status of the Spanish population in the new millennium.

Adolescent↗
PubMed1990

The role of pharmacological profiling in safety assessment.

The profiling of new drug candidates for general pharmacological properties requires a systematic examination of the functional effects of agents in a variety of in vitro and in vivo assays. Both the behavioral and physiological consequences of drug treatment are monitored in models of central nervous system, cardiovascular, autonomic, gastrointestinal, and renal functions. Broad functional profiling provides valuable information to the preclinical pharmacologist with respect to the selectivity of new agents and may serve to identify new and useful therapeutic indications of investigational drugs. At the same time, knowledge of the effects on these physiological systems can also play an important role in safety assessment. Pharmacological activity of a new agent that is both unintended and undesirable can be referred to as "pharmacological toxicity." In general, the spectrum of toxicities disclosed in pharmacological profiling includes a variety of acute functional or physiological effects which are not life-threatening and are readily reversible. On rare occasions, unanticipated and life-threatening pharmacological effects (e.g., convulsions, arrhythmias) are detected which can seriously detract from the usefulness of a new agent and may therefore deter the drug development process. It should also be noted that repeated exposure to acute pharmacological effects may lead to less obvious chronic findings, such as target organ effects or tumor formation in animals. The interpretation of pharmacological toxicity with respect to the safety profile of a new drug candidate is dependent not only upon the types of reactions observed and the doses at which they occur but also upon the nature of the effects elicited as to whether they represent expected extensions of the primary mechanism of action of a compound or constitute reactions unrelated to the primary pharmacological activity. The ultimate impact of pharmacological toxicity, as with all adverse findings in preclinical assessment, is dependent upon the projected therapeutic margin of safety as well as the risk-to-benefit ratio for new drug entities. In addition to supplementing the existing armamentarium of preclinical safety studies, pharmacological profiling can also play an important role in (1) the selection of new drug candidates with reduced toxic potential, (2) the design and conduct of preclinical toxicology studies, (3) the investigation of preclinical and clinical safety issues, and (4) the identification of potential functional effects to be monitored most closely in clinical trials of new drug entities.

Animals↗
PubMed2004

Role of transfusion-transmitted virus in acute viral hepatitis and fulminant hepatic failure of unknown etiology.

BACKGROUND AND AIM: The role of the newly described transfusion-transmitted virus (TTV), a circular single-stranded DNA virus, has been investigated in acute liver disease, comprising 36 patients with acute viral hepatitis (AVH) and 25 with fulminant hepatic failure (FHF), including 50 volunteer blood donors as controls. METHODS: Detection of TTV DNA sequences was carried out by polymerase chain reaction (PCR) using primers derived from the UTR(A) region of the TTV genome. The clinical course and biochemical profile when infected with TTV alone or coinfected with other classical hepatotropic viruses were analyzed. All patients were first evaluated for liver function profile and for the presence of various hepatotropic viruses using serological tests and PCR in serologically negative patients. RESULTS: Transfusion-transmitted virus DNA was detected in 80.6% (29/36) of the AVH cases and in 76% (19/25) of the FHF cases, which were significantly higher levels (P < 0.05) than the 52% (26/50) observed in volunteer blood donors. No significant difference in symptoms, clinical course, liver function and risk factor profile between TTV-positive and TTV-negative patients could be observed in both AVH and FHF patients. TTV was found to coexist with both parenterally and non-parenterally transmitted hepatotropic viruses in similar frequency in both AVH and FHF patients. Further, there was no significant difference in the mortality rates between TTV-positive and TTV-negative FHF patients. Also, there was no difference between patients coinfected by TTV and other hepatotropic viruses and those with TTV infection alone. CONCLUSION: Thus, it appears that TTV, although it exists in a very high frequency in the Indian population, appears to have no significant etiological role in AVH and FHF.

Acute Disease↗
PubMedDate not supplied

Return to work after rehabilitation following traumatic brain injury.

The relationship of medical variables and discharge functional status to vocational and educational outcomes was examined in 79 closed head-injured patients who were consecutively admitted to an inpatient rehabilitation hospital during a two-year period. A follow-up study, conducted after hospital discharge (median, 16.5 months), found that 66% (n = 52) of the patients had returned to work or school, while 34% (n = 27) did not. Patients were divided into return and non-return to work groups. Traditional variables included age, severity of brain-damage as characterized by CT head scan, duration of post-traumatic amnesia, duration of coma, length of stay and acute inpatient rehabilitation program. Discharge functional scores were analysed by t-tests and chi-square analysis. Results suggest that traditional factors of younger age, shorter length of coma, minimal CT head scan findings and shorter length of stay were significant contributors to educational/vocational outcome. Their significance was enhanced by discharge functional profile measurement of medical, physical and psychological/neuropsychological integrity. Those functional measures not significant were in social, vocational, recreational and communication areas. These factors may continue to improve over a longer period of time and should be tracked in the post-acute rehabilitation phase for their significance in return to work/school.

Activities of Daily Living↗
PubMedDate not supplied

[Automated information system for management of an outpatient hospital].

The development of the organization and functional model of an outpatient hospital of a therapeutic profile functioning as a department of an outpatient clinic prompted the author to create an automated information system for the collection, analysis, and storage of medical information using personal computers. This will make medicostatistical information available for heads of institutions and departments and offer variants of management decisions on improving the management and function of therapeutic outpatient hospitals.

Ambulatory Care↗
PubMed2002

Profiling gene expression using onto-express.

Gene expression profiles obtained through microarray or data mining analyses often exist as vast data strings. To interpret the biology of these genetic profiles, investigators must analyze this data in the context of other information such as the biological, biochemical, or molecular function of the translated proteins. This is particularly challenging for a human analyst because large quantities of less than relevant data often bury such information. To address this need we implemented an automated routine, called Onto-Express (http://vortex.cs.wayne.edu:8080), to systematically translate genetic fingerprints into functional profiles. Using strings of accession or cluster identification numbers, Onto-Express searches the public databases and returns tables that correlate expression profiles with the cytogenetic locations, biochemical and molecular functions, biological processes, cellular components, and cellular roles of the translated proteins. The profiles created by Onto-Express fundamentally increase the value of gene expression analyses by facilitating the translation of quantitative value sets to records that contain biological implications.

Gene Expression Profiling↗
PubMed1997

Plasma morphine and glucuronide (M3G and M6G) concentrations in hospice inpatients.

Plasma morphine, morphine-3-glucuronide (M3G), and morphine-6-glucuronide (M6G) concentrations were quantified by high performance liquid chromatography (HPLC) in 36 hospice inpatients receiving morphine orally or subcutaneously. The data were analyzed in relation to dose, serum creatinine, serum gamma glutamyl transferase, and presence or absence of opioid-induced adverse effects. There were significant associations (P < 0.05) between plasma morphine, M3G (subcutaneous route only), and M6G concentrations and dose for both routes of administration. The mean dose-corrected plasma morphine concentration for the subcutaneous group was three times that of the oral group, confirming present oral to subcutaneous dose conversion practices. Nineteen patients experienced symptoms attributed to morphine: nausea and vomiting in ten and acute delirium in nine. Serum creatinine was elevated in patients with adverse effects (P = 0.031), as were the dose-corrected plasma M3G (P = 0.029) and M6G (P = 0.043) concentrations. All seven patients with serum creatinine concentrations above the normal range had symptoms attributed to opioid-induced adverse effects. Plasma M3G, M6G, and dose-corrected plasma M3G and M6G concentrations were significantly (P < 0.001) higher in these patients than in those with normal serum creatinine concentrations. The data indicate that accumulation of M3G and M6G may be a causal or aggravating factor in the nausea and vomiting and cognitive function profile of palliative and terminal care patients with significant renal function impairment.

Adult↗