SEARCH · Search PubMed

Results for “Testing accessibility”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

SourceResearch connectionFrom yearThrough year

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 73 records · Page 4Linked to original sources

PubMed1990

Anaphylactic shock associated with chymopapain skin test. A case report and review of the literature.

The allergic response to chymopapain intradiscal therapy has been well documented. The most serious of these reactions is anaphylactic shock, which may result in death. Various screening methods, including skin tests, have been proposed to identify susceptible patients. Anaphylactic shock occurred in a 40-year-old woman from application of the screening skin test. Appropriate therapeutic intervention should be readily accessible when this test is performed.

Adult↗

PubMed2025

Nonadherence to guidelines for genetic testing in families with ovarian cancer shows racial bias.

PURPOSE: The National Comprehensive Cancer Network (NCCN) recommends germline genetic testing for individuals at risk for hereditary ovarian cancer. We sought to determine the proportion and characteristics of individuals meeting testing criteria in a multicenter biobank who were appropriately offered testing. METHODS: In this retrospective cohort study, we identified Mass General Brigham Biobank participants meeting genetic testing criteria per NCCN guidelines. Logistic regression was used to analyze sociodemographic factors associated with which participants were offered testing, completed testing, and had a family history that matched their self-report documented in the electronic medical record. RESULTS: Most eligible participants (909/1441, 63.1%) were not offered genetic testing. Participants who were Black or Hispanic had a lower likelihood of being offered testing. Compared with self-report, 988 (68.6%) participants had a family history of ovarian cancer documented in their electronic medical record. Older age, Hispanic ethnicity, and public insurance use were associated with decreased likelihoods of accurate family history documentation. Correct documentation was associated with an increased likelihood of being offered testing. CONCLUSION: The majority of participants in this study did not receive NCCN-compliant care. Germline genetic testing for hereditary ovarian cancer screening is underutilized and access to this testing is currently inequitable.

Adult↗

PubMed2026

Molecular diagnostic tests for isoniazid-resistant tuberculosis: a scoping review.

The paucity of diagnostic tests for isoniazid-resistant tuberculosis is concerning, given its status as the most common form of drug-resistant tuberculosis and a gateway to multidrug-resistant diseases. Molecular drug-susceptibility testing has improved access to timely diagnosis of rifampicin-resistant tuberculosis, but testing for isoniazid-resistant tuberculosis still remains rare. In this Review, we assessed the characteristics of molecular drug-susceptibility testing for detection of isoniazid-resistant tuberculosis, referencing the WHO target product profiles. 9243 citations were screened to select 238 studies published between 2000 and 2024. The diagnostics options have expanded rapidly since 2020, with 27 nucleic acid amplification tests, eight line probe assays, five DNA microarrays, two targeted next-generation sequencing platforms, and two whole-genome sequencing platforms. Most of the evaluated molecular drug-susceptibility tests met diagnostic performance targets but were often complex and costly. Although a few low-complexity nucleic acid amplification tests met key target product profile criteria, additional field validation and greater efforts are needed to ensure optimal feasibility and affordability for low-resource settings.

Isoniazid↗

PubMed2026

Brazilian Society of Surgical Oncology Analysis in Cost-Effectiveness of Population-Based BRCA Testing for Ovarian Cancer in the Public Health System.

Although ovarian cancer is the most lethal among gynecological cancers, access to massive BRCA testing is still limited. Its cost-effectiveness is still a topic of discussion in several countries. In Brazil, olaparib was recently incorporated into the public health system, access to BRCA testing is still limited. In this article, we aim to review the cost-effectiveness of offering BRCA testing to the at-risk population. A working group composed of 14 specialists in surgical oncology and cancer genetics was established to discuss the cost-effectiveness of population-based BRCA testing for ovarian cancer. The project was divided into five main areas, each with subtopics assigned among the 14 participants. They were: the existing clinical testing guidelines, the current healthcare infrastructure in the Brazilian public health system, cost-effectiveness analysis, challenges in implementing prophylactic surgeries, and family counseling and risk communication. A comprehensive literature review was conducted, followed by a series of meetings among the article's contributors to reach consensus on unresolved issues. These discussions aimed to build recommendations based on the best available scientific evidence. Using as a basis the current structure already existing within the Brazilian public health service (SUS [Sistema Único de Saude]), and based on the testing of the at-risk population chosen by our experts, we estimated savings. The net savings for a population of 100 000 women would range from BRL 7030.30 (US$1255.41) to BRL 1853.92 (US$331.05). And these costs could have an even greater impact when public service PARP inhibitors are incorporated. The working group of the Brazilian Society of Surgical Oncology understands that large-scale BRCA testing is cost-effective, especially when risk-reducing surgery is implemented. Other measures are important, such as training teams of non-specialists to recognize the population at risk, in addition to creating an entire line of care for patients with ovarian cancer in the SUS.

Humans↗

PubMedDate not supplied

Alcohol preference in rats lacking gustatory neocortex.

Ingestion of alcohol solutions (in concentrations from 0.5 to 12% v/v) was examined in three experiments where rats lacking gustatory neocortex (GN) were compared with intact and control lesion rats. Two experiments tested alcohol consumption during a restricted schedule of fluid access with one or two bottle tests. The last experiment involved testing with continuous access to water and alcohol solutions in two bottle tests. Subgroups of rats in each experiment were presented with either an ascending or descending order of concentrations. In all experiments, GN rats consumed less total fluid during testing (relative to control rats). In general, GN rats exhibited similar patterns of alcohol consumption as that found in control rats. Where differences between GN rats and control rats were found, GN rats consumed more alcohol than control rats during tests with restricted fluid access. During continuous fluid access, however, no significant differences between GN rats and control rats were found.

Alcohol Drinking↗

PubMed1988

Pregnant women's attitudes and knowledge in relation to access to serum-alpha-fetoprotein test.

Serum-Alpha-Fetoprotein (se-AFP) screening is a controversial issue in Sweden. In some areas the test has never been offered, in others it is routinely offered to all pregnant women and there are areas where the se-AFP test has been offered but is no longer available but for very special indications. This pseudoexperimental situation was used to analyze the effects of different information environments on attitudes to and knowledge of testing procedures at the antenatal clinics, especially the se-AFP test, and anxiety of malformations. Consecutive series of pregnant women in these three areas filled in questionnaires at their first visit, in the 22nd to 24th, and the 32nd to 35th weeks of pregnancy, and after delivery. The attitudes to prenatal screening were most positive in the routine screening area and most negative in the area which previously but no longer offers the test. The level of knowledge was somewhat higher in the routine screening area at the first visit to the clinic and increased substantially, especially in the routine screening area.

Anxiety↗

PubMed1990

Priming effects in a letter-by-letter reader depend upon access to the word form system.

Several types of cognitive and neuropsychological evidence suggest that priming effects on such implicit memory tests as word identification are mediated by a pre-semantic visual word form system that can operate independently of episodic memory. We investigate priming in a letter-by-letter reader, P.T., whose pattern of performance on neuropsychological tests indicates preservation of the word form system. Experiment 1 revealed robust priming on a word identification test following letter-by-letter study of target words, despite P.T.'s great difficulty in identifying non-studied words. Experiment 2 showed that the priming effect was modality specific whereas Experiment 3 indicated that recall of previously studied words was not modality specific, thus indicating that the observed priming could not be attributed to explicit memory strategies. Experiment 4 revealed no priming of illegal nonwords on a letter identification test. The results support the notion that priming on the word identification test depends on access to the word form system.

Attention↗

PubMed1984

An incisor plaque model in rats.

An in vivo model for studying plaque accumulation in rats has been described. This model investigates plaque formation on the mandibular incisors in animals which have been found to be rapid plaque-formers during a pre-test period. The accessibility of these tooth surfaces permits the removal of plaque prior to initiation of tests, the use of test groups balanced on the basis of plaque-forming potential, and interim assessments of plaque formation throughout the test period. In addition, baseline plaque scores of near zero can be attained, thereby permitting investigations of the impact of experimental measures on plaque formation. Moreover, the model permits intermittent plaque assessments throughout the test period. This model was found to have adequate sensitivity to distinguish effects between antimicrobial agents known to differ in their clinical activity and to detect differences between varying concentrations of the same agent.

Animals↗

PubMed1992

Skin sensitivity patterns to inhalant allergens in Nigerian asthmatic patients.

The pattern of skin sensitivity response to inhalant allergens in 746 Nigerian asthmatics and 92 normal controls tested over 10 years period is reported. Significant differences in reactions were observed in 7 of the 16 allergens routinely used in the study. House dust mite--dermatophagoides pteronyssinus gave the highest incidence of positive skin reaction, 58% asthmatics, 4.3% controls (P < 0.001). Other significant allergens were house dust 51.7%, feathers 24.4%; dog hair 12.9%, cat fur 11.9%, grass pollen 6.8% and flower pollen 6.3%. More males than females reacted to most of the allergens but this was statistically significant only for feather (P < 0.02). There was good correlation between history and skin sensitivity for most allergens. 82.3% of patients with positive skin test to D. pteronyssinus gave positive history of dust induced asthmatic attacks. Similar results were obtained for pollens: grass (86.3%), flower (83%) and feathers (57.7%). The correlation was however poor in respect of normal allergens (dog 30.6%, cat 36%). From the findings of this study there may be no point in routinely testing patients with a battery of allergens most of which may have no importance in the tropics. Attempts are however underway to incorporate local substances in skin testing materials. It is hoped that the results of this study will assist doctors who may not have access to skin test reagents in management of their asthmatic patients.

Adolescent↗

PubMed1992

Skin sensitivity patterns to inhalant allergens in Nigerian asthmatic patients.

The pattern of skin sensitivity response to inhalant allergens in 746 Nigerian asthmatics and 92 normal controls tested over 10 years period is reported. Significant differences in reactions were observed in seven of the 16 allergens routinely used in the study. House dust mite--dermatophagoides pteronyssinus--gave the highest incidence of positive skin reaction in 58 pc asthmatics and 4.3 pc controls (P = 0.002). Other significant allergens were house dust, 51.7 pc, feathers; 24.4 pc, dog hair, 12.9 pc, cat fur, 11.9 pc; grass pollen, 6.8 pc and flower pollen, 6.3 pc. More males than females reacted to most of the allergens but this was statistically significant only for feathers (p less than 0.02). There was good apparent association between history and skin sensitivity for most allergens. Eighty-two comma three percent of patients with a positive skin test to D. pteronyssinus gave a positive history of dust induced asthmatic attacks. Similar results were obtained for pollens; (grass, 86.3 pc, flower, 83 pc and feathers 57.7 pc.) The association was, however, poor in respect of animal allergens (dog, 30.6 pc; cat, 36 pc). From the findings of this study, there may be no point in routinely testing patients with a battery of allergens most of which may have no importance in the tropics. Attempts are, however, underway to incorporate local substances in skin testing materials. It is hoped that the results of this study will assist doctors who may not have access to skin test reagents in management of their asthmatic patients.

Administration, Inhalation↗

PubMed2025

Detection and Characterization of RB1 Mosaicism in Patients With Retinoblastoma Receiving cfDNA Test.

IMPORTANCE: Plasma cell-free DNA (cfDNA) testing is increasingly used for disease diagnosis and monitoring in retinoblastoma, with RB1 allele fraction in cfDNA actively corresponding to disease status and treatment response. However, while RB1 mosaicism has been reported in retinoblastoma, its clinical implications and potential impact on cfDNA testing remain unclear. OBJECTIVES: To identify RB1 mosaicism using paired plasma and buffy coat (containing lymphocytes, monocytes, granulocytes, and platelets) DNA testing, and to characterize the implications of RB1 mosaicism on cfDNA testing outcomes. DESIGN, SETTING, AND PARTICIPANTS: In this cross-sectional study, participants with retinoblastoma underwent testing with MSK-ACCESS (Memorial Sloan Kettering-Analysis of Circulating cfDNA to Examine Somatic Status), a clinical assay that combines plasma cfDNA and buffy coat genomic DNA sequencing, enabling the detection and differentiation of somatic, heterozygous, and mosaic variants, between July 2020 and April 2024 at the Memorial Sloan Kettering Cancer Center. Mosaic findings from MSK-ACCESS were correlated with those from a subgroup of patients who concurrently underwent testing using the MSK-IMPACT germline assay. Data analysis was performed from April to September 2024. EXPOSURE: RB1 mosaicism in retinoblastoma. MAIN OUTCOMES AND MEASURES: The RB1 variant allele fractions in cfDNA and buffy coat genomic DNA were used to detect RB1 mosaicism. RESULTS: A total of 136 consecutive patients with retinoblastoma (median age at diagnosis, 1.0 year [IQR, 0.4-1.7 years]; 74 [54.4%] female; 67 with bilateral disease and 69 with unilateral disease) who underwent testing with the MSK-ACCESS assay were included. RB1 mosaicism was identified in buffy coat DNA from 20 patients (14.7%), with consistent results detected in all 11 participants tested concurrently by the MSK-IMPACT (Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets) germline assay. Four participants with RB1 mosaicism previously tested negative for germline RB1 variants by external laboratories. Compared with heterozygous participants, participants with RB1 mosaicism had a lower risk of developing bilateral disease (91.7% vs 55.0%, respectively; difference, 36.7% [95% CI, 13.8%-59.6%]; P = .002). In cfDNA, the mosaicism variant was detected both before and after treatment, with variant allele fraction initially decreasing after treatment but then stabilizing at levels consistent with mosaicism, despite the absence of clinical disease. CONCLUSIONS AND RELEVANCE: The accurate detection and quantification of RB1 mosaicism are crucial. RB1 mosaicism should be considered when RB1 variants persist in cfDNA after treatment without evidence of disease; failure to do so may lead to false-positive results and overtreatment in patients with RB1 mosaicism. Identifying RB1 mosaicism may improve patient counseling, inform treatment decisions, and enhance surveillance efforts.

Humans↗

PubMed2026

SOD1 Variants in Patients With Amyotrophic Lateral Sclerosis in Central Eastern Europe: From Genetic Testing to SOD1 Targeted Therapy.

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is one of the most devastating fatal motor neuron diseases, characterized by progressive degeneration of motor neurons in the brain and spinal cord. A significant advance in ALS therapy was achieved with the recent European Medicines Agency approval of Tofersen, the first antisense oligonucleotide (ASO) specifically targeting SOD1 mRNA, a key genetic determinant of the disease. Yet, despite its clinical relevance, data on SOD1-ALS in Central Eastern Europe remain scarce. METHODS: Here, we present a multicentric study across six countries-Austria, Czechia, Poland, Hungary, Slovakia, and Slovenia-representing approximately 16% of the European Union's population. We report all pathogenic, likely pathogenic, and uncertain SOD1 variants, along with the phenotypic features, including heritability, age, site of onset, and survival. We also assessed the availability of genetic testing, counseling, and access to Tofersen therapy across the region. RESULTS: Out of 1200 patients with confirmed ALS, we identified 24 distinct pathogenic SOD1 variants in a total of 67 patients (median age at onset 47 [40-55] years), of whom 65.7% had familial ALS (fALS) and 34.3% had sporadic ALS (sALS). We characterized the associated phenotypes and reported that 42 patients are currently receiving Tofersen therapy. CONCLUSION: This study provides the first comprehensive overview of SOD1-ALS in Central Eastern Europe. Our findings underscore the importance of genetic testing and counseling, as well as equitable access to targeted therapies such as Tofersen to advance patient-specific care in this region.

Humans↗

PubMed1991

Changes in drinking behaviour and cholinergic binding sites induced by intermittent long-term ethanol treatment in the male rat.

Male rats were treated with ethanol for approximately 1 year. One group of rats (Group 1) could, for 24 hr each week, choose between ethanol (10%, w/v) and water as drinking fluid. At the end of each choice period, 2.0 g/kg ethanol was given ip. A second group (Group 2) had the same choice as Group 1, but was given a saline injection. A third group (Group 3) could at all times choose between ethanol and water. Saline was injected ip once a week. A control group (Group 4) was not exposed to ethanol. During the following evaluation period, lasting 30 weeks, Groups 1, 2 and 3 had, except for a 3 week period, continuous access to ethanol. Different concentrations of ethanol were tested. Group 4 had access to 30% ethanol only for one week. At the end of the experiment, nicotinic and muscarinic binding sites (total, measured with QNB, M1 and M2) were determined in brain cortex, striatum and medulla + midbrain. During the treatment, voluntary ethanol intake in Group 1 was inhibited compared to Group 2 with a maximum around week 5 and a return to the level of Group 2 after 15-20 weeks. After a 3 week interruption of access to ethanol during the evaluation period, intake of ethanol was increased in Groups 1, 2 and 3. The increase was independent of prior intake in Groups 1 and 2 and proportional to prior ethanol intake in Group 3, where the largest increase was seen in rats with the largest intake prior to interruption. During testing of different concentrations (5 and 20%) no change in individual intake was seen. Thus a short abstinence from ethanol was a way to increase voluntary ethanol intake with a more specific effect than a mere change of concentration. No differences between groups were seen in muscarinic or nicotinic binding in brain. The muscarinic receptor binding in striatum and medulla + midbrain positively correlated with ethanol intake in Group 3. The nicotinic receptor binding in the cortex of Groups 1 and 2 positively correlated with water intake recorded during the last week of the evaluation period. The muscarinic M1 and M2 binding sites were positively correlated in the striatum in all groups, but differences between the groups were also seen in the correlation pattern within or between brain parts.

Alcohol Drinking↗

PubMed2025

Genomic testing for RET in the clinic: UK and global perspective.

RET is a key oncogene in neuroendocrine cancer. Pathogenic germline variants lead to multiple different phenotypes, including multiple endocrine neoplasia type 2, medullary thyroid cancer (MTC), Hirschsprung disease and kidney malformations. Pathogenic somatic variants are also associated with MTC, and RET rearrangements are observed in papillary thyroid cancer, non-small cell lung cancer and pan-cancer syndromes. Testing for both germline and somatic variants is now feasible in everyday clinical practice, and their identification has important clinical consequences, both for affected individuals and their families. This mini-review will discuss current germline and somatic testing strategies in the UK and worldwide, as well as reporting and test outcomes (including variants of uncertain significance or incidental findings). It will explore actions following identification of a pathogenic germline variant, including predictive, reproductive and childhood testing, and somatic testing of RET variants in solid tumours informing personalised cancer treatment. Finally, it will discuss the challenge of delivering rapid and equitable access to genomic testing to ensure that all individuals can benefit promptly and appropriately to improve clinical outcomes.

Humans↗

PubMed2025

BRCA genetic testing utilization and expenditures among privately insured adults in the United States, 2013 to 2022.

PURPOSE: Recent clinical guidelines have broadened the criteria for BRCA counseling and testing for women and men, including indications based on family history, personal history, and current diagnosis of breast, ovarian, pancreatic, and prostate cancer. METHODS: Using claims data from 2013 to 2022, we identified BRCA testing using procedure codes to evaluate annual utilization, median expenditures per enrollee, and the percentage of 0 out-of-pocket expenditures by sex among enrollees aged 18 to 64 years who were continuously enrolled within calendar years. We examined BRCA utilization by metropolitan status and indications. RESULTS: Annual BRCA testing utilization among women (and men) increased 10.2% (44.5%) per year during 2014 to 2015 and 1.7% (10.0%) per year during 2016 to 2019, decreased 34.4% (44.8%) in 2020, and rebounded 8.5% (22.3%) per year during 2021 to 2022, remaining below prepandemic levels in 2022. Median expenditures for comprehensive BRCA testing per enrollee decreased by 68% from 2013 to 2022, most of whom had 0 out-of-pocket expenditures. Most BRCA testing was done based on family health history of breast, ovarian, or prostate cancer and among women aged 18 to 50 years. CONCLUSION: Health care providers who are knowledgeable about evolving indications for germline BRCA testing can help ensure that eligible individuals have access to germline BRCA testing as preventive service.

Humans↗

PubMed1992

Immune responses following competitive water tests in two species of macaques.

A panel of immune parameters (lymphocyte activation by mitogens, natural cytotoxicity, and differential cell counts) was assessed in socially housed pigtail and bonnet macaques 1 and 2 weeks before, 48 h after, and 1 and 2 weeks after a competitive water test. Species differences were found in both baseline measures and the responses to the test: Immune measures observed during baseline periods were lower in pigtail macaques. Furthermore, only the pigtail macaques showed changes in mitogen activation and cytotoxicity at 48 h post-test. Dominance-related behaviors affected these responses both within and across social groups. The species differences may be accounted for by the differences in the behavioral responses of the two species to the test: Pigtail macaques consistently contested access to the water during the test, whereas bonnet macaques did not. These results suggest that the immune system can be modulated by psychosocial behavioral systems, particularly during times of stress.

Animals↗

PubMed1984

Ergonovine provocative testing: description of a "double catheter technique".

Since coronary arteries should be immediately accessible during ergonovine provocative testing (EPT), a double catheter technique is described. Using the catheter sheath technique from the right and left femoral arteries, right and left Judkins' catheters are introduced into each femoral artery. Selective coronary cineangiography during EPT is thus rapidly performed without the delay of exchanging catheters. Should coronary arterial spasm occur during the test, nitroglycerin can be administered into the coronary artery without delay.

Cardiac Catheterization↗

PubMed1991

[Treadmill versus field trial. Movement analysis and pressure distribution in the athletic shoe].

Our current knowledge on interactions between runner and runningshoe is mainly based on treadmill measurements. In order to reveal stress load and adaptation on playing surfaces it was necessary to develop a combined measuring device out of 3-D video motion analysis and portable pressure measurement system. By means of a motor driven cart moving parallel to the subject with comparable position of cameras to the treadmill test it was possible to set up an identical trial for track and field. 12 subjects (male, age 24-32, size 9) were tested at a speed of 2.8 m/s. The varying conditions were treadmill and grass and two different constructed running shoes. 200 cycles and over 1000 steps were analyzed. The quantitative analysis of 37 parameters describing the contact phase was performed using the wilcoxon test for paired samples.-A qualitative comparison of running styles was introduced by using angle-angle-diagrams (knee and ankle by 3-D data) similar to those first described for 2-D by P.R. Cavanagh in 1973. It showed a huge interindividual variability under same conditions. Comparing the angle-angle-diagrams for the four different running conditions it was possible to classify them into three characteristic groups: non-adaptors, surface-adaptors and shoe-adaptors. Comparing track and field to treadmill measurements significant differences were found for the knee at impact: On treadmill the initial knee angle was 4.6 degrees more extended at a 13% higher angle velocity and a 30% higher angle deceleration (sig. p less than 0.05). A 7.3% higher impulse was found on grass at a 5.9% higher step length. No difference in maximum pressure was found. These results show that adaptation is performed mainly by the knee. Changing the motion pattern the knee seems to be capable of homogenizing the different stress loads to the foot. Comparing the running shoes significant differences were found in the motion of the ankle: a controversial behaviour was found to be on treadmill and grass. The pressure data revealed significant differences for the treadmill test to be in the heel area, for grass in the arch area. This points to an--up to now--unknown importance of the arch on unplain surfaces that are obviously influenced by the construction of the shoe and are not accessible by treadmill tests. The described different behaviour of shoes in treadmill and track and field tests points out the reduced validity of single treadmill tests.(ABSTRACT TRUNCATED AT 400 WORDS)

Adult↗