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At least 163 records · Page 9Linked to original sources
PubMed2026

Hereditary cancer: Germline testing practices across ERN GENTURIS member countries.

Germline genetic testing practices for hereditary cancer vary across the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) member countries. We surveyed experts in genetic testing from 20 EU member countries and Norway to assess multi-gene panel usage, availability of genome-wide sequencing, first-tier testing approaches, implementation of polygenic risk scores, and the roles of non-genetic healthcare professionals. National experts and members of the ERN GENTURIS completed a structured questionnaire covering founder germline pathogenic variants (gPV) testing, panel testing for common genetic tumour risk syndromes, use of whole-exome sequencing (WES) and whole-genome sequencing, polygenic risk score implementation, use of formalin-fixed paraffin-embedded tumour samples, laboratory accreditation, and the clinical roles of physicians, genetic counselors and nurses. Significant inter-country heterogeneity was observed. Most countries rely on next-generation sequencing (NGS) multi-gene panels. Founder gPV testing is first-line in a few high-prevalence populations (e.g., BRCA1/2 founders). All 21 countries offer NGS panel tests for hereditary breast and ovarian cancer, and ≥19 countries do so for colorectal and prostate cancers. However, NGS panel size and gene composition exhibit substantial variability. WES is available in 12 countries on a routine basis. Most countries implemented genetic testing on stored tumour tissue from deceased patients. In all countries, clinical geneticists can order germline genetic tests, and in 9 countries, any physician can do so. These findings show differences in accessibility to germline genetic testing of hereditary cancer in Europe. We propose EU-wide guidance via pathways, standards of care, and sharing of best practices to further optimize access to hereditary cancer genetic molecular diagnostics.

Humans↗
PubMed1975

[Surgical approaches to the liver and spleen].

A three-edge arbalest access to subdiaphragmatic organs is suggested. The access in its total or partial extent was tested in 393 operations. This access is considered to be more advantageous as compared with the analogous known ones.

Evaluation Studies as Topic↗
PubMed1983

Assessment of fetal pulmonary maturity by the Lumadex Foam Stability Index Test.

The authors describe the operational features and performance characteristics of a new commercial kit designed to measure the amount and functionality of amniotic fluid surfactant. This kit, the Lumadex-FSI Test, is based upon the manual foam stability index test. The test requires no more than 3.0 ml of centrifuged amniotic fluid. Initial experience based on 172 specimens, including 19 cases of neonatal respiratory distress syndrome (RDS), revealed the Lumadex-FSI Test to have excellent discriminating ability in predicting the likelihood of RDS. In 18 of 19 cases in which RDS was noted, the foam stability index was 46 or less. A foam stability index of 47 or above was associated in 133 of 134 cases with fetal pulmonary maturity. Based upon contamination studies with maternal serum and meconium, the authors observed that a 1% contamination with blood, or 4% contamination with meconium, would artifactually increase the Lumadex-FSI value. The Lumadex-FSI Test demonstrated a clinical reliability similar to that of the manual foam stability index procedure, in addition to making the test simpler, faster, and more accessible to the clinician, in whose hands this test will have unique input into the management of high-risk pregnancies.

Amniotic Fluid↗
PubMed1982

The effect of immediate access to a computerized medical record on physician test ordering: a controlled clinical trial in the emergency room.

We performed a randomized clinical trial of the effect of immediately printed summaries of a computerized medical record on physician test ordering rates in an Emergency Room setting. The computerized medical record contained medication history, the results of most diagnostic studies, an outpatient problem list, and inpatient and emergency room diagnoses. Physicians were presented with a printed summary of the patient's computerized record for study but not for control encounters. All other patient information was equally available to both kinds of encounters. All results were provided for one period of the study, designated T1. Due to a program error, summaries were printed without recent data during a period of the study, designated T2. Two-thirds of the visits were cared for by internists, one-third by surgeons. During T1, internists ordered an average of 3.2 tests, costing $34.91 for control visits, and 2.7 tests, costing $29.94 for study control visits (p less than .026). Surgeons also ordered fewer tests during study visits as compared to controls (1.32 vs 1.54) but the differences were not statistically significant. There was no significant effect on either medical or surgical test ordering during time period T2.

Clinical Laboratory Techniques↗
PubMed1995

Serotonin dysfunction in the nucleus accumbens of rats during withdrawal after unlimited access to intravenous cocaine.

To test the hypothesis that cocaine withdrawal is associated with abnormalities in serotonin (5-HT) neurotransmission, 5-HT concentrations in the nucleus accumbens (NAC) of rats were analyzed with microdialysis both during and after 12 h of unlimited-access intravenous cocaine self-administration. For comparison with previous work, dopamine (DA) levels were also monitored. Self-administration produced sustained increases of both 5-HT and DA to approximately 340% of base line. During the first 6 h of withdrawal, dialysate 5-HT concentrations decreased to 41% of base-line levels obtained before self-administration and to 25% of levels in drug-naive control animals. During the same period, dialysate DA decreased to 72% of presession base-line concentrations but did not decline below control levels. Extracellular 5-HT concentrations were subsequently estimated by use of a quantitative microdialysis technique. After 12 h of self-administration extracellular 5-HT levels were significantly lower (0.6 +/- 0.3 nM) than levels in drug-naive animals (2.0 +/- 0.5 nM) or in rats given only limited-access to cocaine (3 h/day; 1.4 +/- 0.2 nM). Additionally, after 12 h of self-administration low concentrations of intra-accumbens 5-HT applied by reverse dialysis significantly elevated DA efflux. This effect was not observed in either control animals or in rats given only limited access to cocaine. These results suggest that deficient 5-HT neurotransmission may be a significant factor in the cocaine withdrawal symptomatology and provide key information regarding nondopaminergic mechanisms involved in cocaine dependence.

Animals↗
PubMed2025

Ten years of exome sequencing and reanalysis among racial, ethnic, and ancestral groups: The importance of equitable reanalysis access.

PURPOSE: Race, ethnicity, and ancestry (REA) affect the diagnostic utility of genetic testing. In addition to barriers to accessing genetics services, some non-European REA groups experience decreased diagnostic results and increased uncertain results. Exome sequencing (ES) is a unique genetic test because data can be reanalyzed with new information and variants may be reclassified after the original result. METHODS: We performed a retrospective review of 10,416 clinical ES cases originally analyzed by Ambry Genetics between 2011 and 2021 with reanalysis events through 2023. The relationship between assigned REA group, ES result, reanalysis and reclassification rates, and reanalysis initiators were analyzed with logistic regression. RESULTS: Reanalyses increased the total diagnostic yield from 21.4% to 25.5%. There were no significant differences in reclassification rate among REA groups. However, the African American and Black group (P = 2.8E-07), the Hispanic and Latino group (P = .0022), and the Asian group (P = .033) were significantly less likely to receive provider-initiated reanalysis compared with the White group. CONCLUSION: Although reclassification rates were not found to be associated with REA group, not all REA groups had the same access to ES reanalysis. Laboratory-initiated proactive reanalysis can help reduce disparities in ES diagnostic utility by reducing barriers to accessing reanalysis.

Female↗
PubMed1986

Introduced T cell receptor variable region gene segments recombine in pre-B cells: evidence that B and T cells use a common recombinase.

We have recently proposed that a common recombinase performs all of the many variable region gene assembly events in B and T cells, and that the specificity of these joining events is mediated by regulating the "accessibility" of the involved gene segments. To test this possibility, we have introduced "accessible" T cell receptor (TCR) variable region gene segments into a pre-B cell line capable of recombining endogenous and transfected immunoglobulin (Ig) variable region gene segments. Although the corresponding "inaccessible" endogenous TCR gene segments do not rearrange in this line or in B cells in general, the introduced TCR gene segments join very frequently and, in fact, closely resemble introduced Ig gene segments in their recombination characteristics. These observations suggest a new role for conventional Ig transcriptional enhancers--recombinational enhancement. Our studies provide insight into additional aspects of the joining mechanism such as N region insertion, aberrant joining, and recombination-recognition sequence requirements for joining.

Animals↗
PubMed1995

Unilateral conditioning of an odor aversion in 6-day-old rat pups.

In young rats, several forms of olfactory memory can be functionally localized to one side of the brain by restricting training stimuli to one naris and corresponding olfactory bulb. In the experiment, the analysis of lateralized olfactory learning in 6-day-old rat pups was extended by an evaluation of the consequences of aversive reinforcers in a unilateral olfactory conditioning paradigm. An olfactory aversion was conditioned by delivering a mild footshock to animals in the presence of a novel odor. Olfactory stimulation was confined to one naris and corresponding olfactory bulb by inserting a soft rubber plug into the opposite naris. This lateralization in processing resulted in unilateral memory for the odor aversion that was only expressed when the trained naris was open during an odor preference test. The hypothesis that the hedonic value (or valence) component of conditioning is represented in structures that are unilaterally accessed during training and testing is discussed.

Animals↗
PubMed1986

Unilateral olfactory conditioning in 6-day-old rat pups.

The potential that early olfactory learning might be laterally organized in the brain was investigated in 6-day-old rats. This hypothesis is based on the finding that the commissural systems that subserve bilateral olfactory communication do not mature until the second week of postnatal life. Pups were trained with pairings of cedar odor and intraoral infusions of milk while one nostril was occluded. Animals expressed a conditioned orientation towards cedar if tested with the trained nostril open. No such conditioning was observed if the untrained nostril was open during testing. Further, when individual pups received cedar odor/milk pairings with one nostril open and orange odor/milk pairings with the other open, they expressed a conditioned preference for orange when tested with the orange-trained nostril open, and a preference for cedar when tested with the cedar-trained nostril open. Classically conditioned oral responses (mouthing) also appeared to be lateralized. However, no such unilateral conditioning occurred with respect to behavioral activation, which is also conditioned in this paradigm. Increases in activity to the odor CS were observed regardless of whether the trained or untrained nostril was open during testing. These results suggest that in developing rodents, olfactory memories may be partly represented in structures that can be unilaterally accessed during training and testing. They provide a starting point for isolation of neural substrates of the olfactory conditioning process.

Age Factors↗
PubMed1985

Lexical access during eye fixations in reading: effects of word-initial letter sequence.

Two experiments tested the hypothesis that lexical access in reading is initiated on the basis of word-initial letter information obtainable in the parafoveal region. Eye movements were monitored while college students read sentences containing target words whose initial trigram (Experiment 1) or bigram (Experiment 2) imposed either a high or a low degree of constraint in the lexicon. In contradiction to our hypothesis, high-constraint words (e.g., DWARF) received longer fixations than did low-constraint words (e.g., CLOWN), despite the fact that high-constraint words have an initial letter sequence shared by few other words in the lexicon. Moreover, a comparison of fixation times in viewing conditions with and without parafoveal letter information showed that the amount of decrease in target fixation time due to prior parafoveal availability was the same for high-constraint and low-constraint targets. We concluded that increased familiarity of word-initial letter sequence is beneficial to lexical access and that familiarity affects the efficiency of foveal but not parafoveal processing.

Fixation, Ocular↗
PubMed1990

[The accessibility of general practitioners by the phone. A study in Vestfold based on calls].

The accessibility by phone of 35 general practitioners during consulting hours was tested systematically. The doctor was accessible in the case of 74% of all calls, no answer was obtained in 15%, and in 11% the office was inaccessible due to the use of an automatic telephone answerer. In the authors' opinion the standard should be 90% accessibility by phone for general practitioners in primary health care. This standard was met by 20% of the doctors.

Health Services Needs and Demand↗
PubMed1983

[Cephalic phase of insulin secretion and the variety of the food in rat feed].

Immunologically reactive insulin levels were determined in freely-moving normal rats offered three different test-meals. In test I, they were offered their normal diet for 4.5 min. In test II, they first ate the same diet for the same amount of time, then a cookie for 6 min, and finally they had free access to lard. In test III, the normal diet was followed by a synthetic sweetener and then by vaseline. It was shown that in a varied meal (tests II and III), the ingestion of each new food was immediately followed by a peak of insulin secretion superimposed on normal postprandial hyperinsulinemia. This resulted in an overall increase in insulinemia over the 15-min period measured. It is well known that in a varied meal more food is consumed. Thus, it may be that when a varied meal is offered, final satiety is postponed. This could be due to sensorially-triggered peaks of insulin secretion which would explain why the "cafeteria diet" induces hyperphagia and obesity.

Animal Feed↗
PubMedDate not supplied

Type of statistical techniques in rheumatology and internal medicine journals.

A comparison of the prevalence and type of statistical analysis used in internal medicine and rheumatology journals was done. Four representative journals of each specialty were selected and twelve original articles were randomly obtained from each journal. The papers were reviewed twice within a three month interval by the same evaluator following published definitions for classification. The rheumatology journals tended to use fewer (80 versus 115) and simpler statistical techniques (X3 = 4.28, DF = 1, p = 0.03; OR, 95% CI = 3.21, 1.05-10.85). There was a statistical difference in the utilization of statistical procedures among journals in the four categories evaluated. Seven statistical techniques were required to have access to 86% of statistical tests used in rheumatology journals (t-tests, contingency tables, descriptive statistics, non-parametric comparisons, anova, multiple regression, and Pearson's correlation). The internal medicine journals required six statistical procedures to have access to 85% of the tests (contingency tables, survival analysis, epidemiologic statistics, t-tests, non-parametric statistics, and anova). Our results could be useful to plan medical education in biostatistics emphasizing the statistical techniques most commonly used in these areas.

Internal Medicine↗
PubMed1989

A microleakage study of temporary restorative materials used in endodontics.

The purpose of this study was to quantitatively evaluate the sealing properties of various temporary restorative materials used in standard endodontic access preparations by using a newly introduced fluid filtration method. The materials tested were Cavit, Cavit-G, TERM, glass ionomer cement, zinc phosphate cement, polycarboxylate cement, and IRM. Extracted human incisor, canine, and premolar teeth were used, and each tooth served as its own control by testing for microleakage prior to access preparation. Following access preparation, cotton pellets were placed in the pulp chamber so that the space remaining for the restoration was 4 mm. Immediately after placement of the restoration, the teeth were immersed in Ringer's solution and incubated at 37 degrees C. Microleakage was measured after various time intervals. The results indicated that Cavit, Cavit-G, TERM, and glass ionomer cement provided leakproof seals during the 8-wk testing period, while leakage was observed in 4 of the 10 teeth restored with zinc phosphate cement. IRM and polycarboxylate cement were the least effective of the materials tested for preventing microleakage.

Calcium Sulfate↗
PubMed1991

Sexual performance of rams as determined by maturation and sexual experience.

The purpose of this study was to compare the sexual performance of rams that differed in age (maturation) and sexual experience. Twenty-four ram lambs (8 mo of age) and 21 rams (20 mo of age) were individually exposed to four females in hormonally induced estrus for 30 min on five occasions, 7 d apart. Half (12) the ram lambs and nine of the yearlings were sexually naive at the start of testing (had been denied access to females since weaning); the remaining males were sexually experienced. The sexual performance of the virgin rams was poorer during the initial exposure to females than in subsequent tests, whereas the sexual behavior of the sexually experienced males did not change over the days of testing. Sexually naive ram lambs and rams exhibited an improvement in sexual performance between Tests 1 and 2; during Test 3 to 5 the sexual performance (ejaculations per test) of sexually naive and experienced rams was similar. The only effects of age (maturation) on sexual performance during the last three test days were a higher frequency of mounts without ejaculation plus mount attempts (P less than .03) and a greater number of mount interactions per ejaculation (P less than .02) by ram lambs. In conclusion, one or two relatively brief exposures to estrous females can bring the sexual performance of virgin rams up to levels comparable to that of experienced males. Also, ram lambs in good condition exhibit acceptable levels of sexual performance.

Animals↗
PubMed1978

Membrane isolation on polylysine-coated glass beads. Asymmetry of bound membrane.

Erythrocyte membranes isolated on polylysine-coated glass beads exhibit many of the properties of the native membrane. Gel electrophoresis indicates that all major protein components of the membrane are retained during membrane isolation. The membrane integrity and accessibility of selected components was tested using non-penetrating probes. In general, membranes on beads displayed accessibility properties typical of inside-out vesicles. The accessibility of membrane acetylcholinesterase to assay reagents, as well as membrane accessibility to the actions of neuraminidase, trypsin and galactose oxidase-NaB3H4 demonstrated that the protoplasmic surface of membrane isolated on beads was exposed, while the extracellular surface was inaccessible. The differential accessibility of the membrane surfaces demonstrates the feasibility of investigating asymmetry of membranes isolated on cationic glass beads.

Acetylcholinesterase↗
PubMed1982

Caloric compensation following insulin administration in rats.

Caloric intakes following injections of insulin were examined in male rats maintained on diets of different caloric densities. Following saline or insulin injections, food intake was measured every two hours for six hours or food was withheld for six hours until recovery of normo-glycemia and total intake was measured at seven and eight hours post-injection. Additionally, levels of plasma metabolic fuels, liver glycogen and stomach contents were measured following saline and insulin injections. Animals in both the continuous and delayed access conditions consumed the same number of calories following injections of insulin. Similarly, the increases in intake relative to saline baseline conditions were comparable across diet groups in both conditions although animals tested in the delayed access paradigm were less variable in their response. Changes in levels of metabolic fuels, stomach contents and liver glycogen were found to be consistent with the known effects of insulin and counter-regulatory responses to the induced hypoglycemia.

Animals↗