Screening tests: a review with examples.
Ontology highlight
ABSTRACT:
SUBMITTER: Maxim LD
PROVIDER: S-EPMC4389712 | biostudies-other | 2014 Nov
REPOSITORIES: biostudies-other
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Project description:Osteogenesis imperfecta (OI) is characterized by susceptibility to bone fractures, with a severity ranging from subtle increase in fracture frequency to prenatal fractures. The first scientific description of OI dates from 1788. Since then, important milestones in OI research and treatment have, among others, been the classification of OI into 4 types (the 'Sillence classification'), the discovery of defects in collagen type I biosynthesis as a cause of most cases of OI and the use of bisphosphonate therapy. Furthermore, in the past 5 years, it has become clear that OI comprises a group of heterogeneous disorders, with an estimated 90% of cases due to a causative variant in the COL1A1 or COL1A2 genes and with the remaining 10% due to causative recessive variants in the 8 genes known so far, or in other currently unknown genes. This review aims to highlight the current knowledge around the history, epidemiology, pathogenesis, clinical/radiological features, management, and future prospects of OI. The text will be illustrated with clinical descriptions, including radiographs and, where possible, photographs of patients with OI.
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Project description:Screening with fecal occult blood tests (FOBT) reduces colorectal cancer mortality. Failure to complete repeat tests may compromise screening effectiveness. We conducted a systematic review of repeat FOBT across diverse health care settings. We searched MEDLINE, Embase, and the Cochrane Library for studies published from 1997 to 2017 and reported repeat FOBT over ?2 screening rounds. Studies (n = 27 reported in 35 articles) measured repeat FOBT as (i) proportion of Round 1 participants completing repeat FOBT in Round 2; (ii) proportion completing two, consecutive FOBT; or (iii) proportion completing ?3 rounds. Among those who completed FOBT in Round 1, 24.6% to 89.6% completed repeat FOBT in Round 2 [median: 82.0%; interquartile range (IQR): 73.7%-84.6%]. The proportion completing FOBT in two rounds ranged from 16.4% to 80.0% (median: 46.6%; IQR: 40.5%-50.0%), and in studies examining ?3 rounds, repeat FOBT ranged from 0.8% to 64.1% (median: 39.2%; IQR: 19.7%-49.4%). Repeat FOBT appeared higher in mailed outreach (69.1%-89.6%) compared with opportunistic screening (24.6%-48.6%). Few studies examined correlates of repeat FOBT. In summary, we observed a wide prevalence of repeat FOBT, and prevalence generally declined in successive screening rounds. Interventions that increase and maintain participation in FOBT are needed to optimize effectiveness of this screening strategy.
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Project description:BackgroundColorectal cancer (CRC) screening using the faecal immunochemical test (FIT) kits based on the detection of occult blood in stool is widely advocated in numerous screening programs worldwide. However, CRC is not commonly diagnosed in positive cases. We undertook this review to determine if there is evidence to suggest the use of opportunistic oesophago-gastro-duodenoscopy (OGD) in patients without CRC.MethodsA systematic review encompassing three electronic databases was performed. All peer-reviewed studies of FIT-positive patients who underwent either OGD and colonoscopy concurrently or OGD post-colonoscopy were included. Only studies from 2008 to 2022 using FIT kits were included to ensure studies not previously included in an earlier review were being analysed. A forward citation search of the included articles was also conducted to ensure no relevant articles were missed.ResultsA total of 2409 records were extracted. Only four studies fulfilled the selection criteria and were included. Although the rates of abnormal OGD results were relatively high in the four studies, only 3 of 605 (0.50%) patients had gastric cancer in the entire review sample. No other malignancies were identified in all four studies. Other notable pathologies such as gastric polyps and gastritis were also reported.ConclusionsThere is little overall evidence to recommend UGI screening for all FIT-positive patients following a colonoscopy. However, there may be a role for clinicians to consider opportunistic OGD in this group of patients. Future research should examine patient populations from other sociocultural contexts including cost-effective analysis when considering changes in health guidelines on UGI screening.
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Project description:BACKGROUND/AIMS:To estimate the level of agreement and positivity rates of latent tuberculosis infection (LTBI) tests prior to the use of tumor necrosis factor (TNF) inhibitors in relation to underlying rheumatic diseases and endemic tuberculosis levels. METHODS:The Ovid-Medline, Embase, and Cochrane Libraries were searched for articles before October 2013 involving LTBI screening in rheumatic patients, including rheumatoid arthritis (RA), ankylosing spondylitis (AS), juvenile idiopathic arthritis (JIA), and psoriatic arthritis. RESULTS:In pooled analyses, 5,224 rheumatic patients had undergone both a tuberculin skin test (TST) and an interferon-gamma release assay (IGRA) before TNF inhibitors use. The positivity of TST, QuantiFERON-TB Gold In Tube (QFT-GIT), and T-SPOT.TB (T-SPOT) tests were estimated to be 29%, 17%, and 18%, respectively. The agreement percentage between the TST and QFT-GIT, and between the TST and T-SPOT were 73% and 75%. Populations from low-to-moderate endemic TB presented with slightly less agreement (71% between TST and QFT-GIT, and 74% between TST and T-SPOT) than patients from high endemic countries (73% between TST and QFT-GIT, and 81% between TST and T-SPOT). By underlying disease stratification, a lower level of agreement between TST and QFT-GIT was found among AS (64%) than among JIA (77%) and RA patients (73%). CONCLUSION:We reaffirm the current evidence for accuracy of LTBI test done by TST and IGRA among rheumatic patients is inconsistent. Our stratified analysis suggests different screening strategies might be needed in clinical settings considering the endemic status in the patient's country of origin and the precise nature of underlying diseases.
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Project description:Large-scale transcriptome and methylome data analyses obtained by high-throughput technologies have been enabling the identification of novel imprinted genes. We investigated genome-wide DNA methylation patterns in multiple human tissues, using a high-resolution microarray to uncover hemimethylated CpGs located in promoters overlapping CpG islands, aiming to identify novel candidate imprinted genes. Using our approach, we recovered ~30% of the known human imprinted genes, further 168 candidates were identified, 61 of which with at least three hemimethylated CpGs shared by more than two tissue types. Thirty-four of these candidate genes are members of the protocadherins cluster on 5q31.3; in mice, protocadherin genes have non-imprinted monoallelic randomic expression, which might be the case in humans. Among the remaining 27 genes, ZNF331 was recently validated as an imprinted gene, and six of them have been reported as candidates, supporting our prediction. Five candidates (CCDC166, ARC, PLEC, TONSL and VPS28) map to 8q24.3, and might constitute a novel imprinted cluster. Additionally, we performed a comprehensive compilation of known human and mice imprinted genes from literature and databases, and a comparison among high-throughput imprinting studies in humans. The screening for hemimethylated CpGs shared by multiple human tissues, together with the extensive review, appears as a useful approach to reveal candidate imprinted genes.
2017-09-26 | GSE103413 | GEO
Project description:Screening has a central role in colorectal cancer (CRC) control. Different screening tests are effective in reducing CRC-specific mortality. Influence on cancer incidence depends on test sensitivity for pre-malignant lesions, ranging from almost no influence for guaiac-based fecal occult blood testing (gFOBT) to an estimated reduction of 66-90% for colonoscopy. Screening tests detect lesions indirectly in the stool [gFOBT, fecal immunochemical testing (FIT), and fecal DNA] or directly by colonic inspection [flexible sigmoidoscopy, colonoscopy, CT colonography (CTC), and capsule endoscopy]. CRC screening is cost-effective compared to no screening but no screening strategy is clearly better than the others. Stool tests are the most widely used in worldwide screening interventions. FIT will soon replace gFOBT. The use of colonoscopy as a screening test is increasing and this strategy has superseded all alternatives in the US and Germany. Despite its undisputed importance, CRC screening is under-used and participation rarely reaches 70% of target population. Strategies to increase participation include ensuring recommendation by physicians, introducing organized screening and developing new, more acceptable tests. Available evidence for DNA fecal testing, CTC, and capsule endoscopy is reviewed.
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Project description:Despite clear evidence that colorectal cancer (CRC) screening reduces mortality, screening, including fecal immunochemical tests (FIT), is underutilized. We conducted a systematic review to determine the evidence of efficacy of interventions to improve FIT completion that could be scaled and utilized in population health management. We systematically searched publication databases for studies evaluating provider- or system-level interventions to improve CRC screening by FIT between 1 January 1996 and 13 December 2017 without language restrictions. Twenty articles describing 25 studies were included, 23 were randomized controlled trials with 1 quasi-experimental and 1 observational study. Ten studies discussed mailed FIT outreach, 4 pre-FIT patient reminders, 3 tailored patient messages, 2 post-FIT reminders, 2 paired FIT with influenza vaccinations, 2 provider alerts and 1 study each described the use of high-quality small media and patient financial incentives. Mailed FIT outreach was consistently effective with median improvement in CRC screening of 21.5% (interquartile range (IQR) 13.6%-29.0%). FIT paired with vaccinations led to a median 15.9% (IQR 15.6%-16.3%) improvement, while pre-FIT and post-FIT reminders demonstrated modest efficacy with median 4.1% (IQR 3.6%-6.7%) and 3.1% (IQR 2.9%-3.3%) improvement in CRC screening, respectively. More than half the studies were at high or unclear risk of bias; heterogeneous study designs and characteristics precluded meta-analysis. FIT-based CRC screening programs utilizing multilevel interventions (e.g. mailed FIT outreach, FIT paired with other preventative services, and provider alerts) have the potential to significantly increase screening participation. However, such programs must also follow-up patients with abnormal FIT results.
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