Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication.
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ABSTRACT:
SUBMITTER: Evans DG
PROVIDER: S-EPMC7000386 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Background and aimsThe 2012 and 2020 US Multi-Society Task Force postpolypectomy guidelines have recommended progressively longer surveillance intervals for patients with low-risk adenomas (LRAs). These guidelines require data from past colonoscopies. We examined the impact of the 2012 guidelines for second surveillance on clinical practice, including the availability of prior colonoscopy data, with the aim of informing the implementation of the 2020 guidelines.MethodsWe identified surveillance colonoscopies at Stanford Health Care and the Palo Alto Veterans Affairs Health Care System in 3 periods: preguideline (March-August 2012), postguideline (January-June 2013), and delayed postguideline (July-September 2017). We collected data on the most recent previous colonoscopy, findings at the study entry surveillance colonoscopy, and recommendations for subsequent surveillance.ResultsAmong 977 patients, the most recent prior colonoscopy data were available in 78% of preguideline, 78% of postguideline, and 61% of delayed postguideline cases (P < .001). The fraction of surveillance colonoscopy reports that deferred recommendations awaiting pathology increased from 6% to 11% in preguideline and postguideline to 59% in delayed postguideline cases (P < .001). Overall adherence to guidelines for subsequent surveillance was similar in all 3 periods (54%-67%; P = .089). In the postguideline and delayed postguideline periods combined, a 10-year subsequent surveillance interval was recommended in 0 of 29 cases with LRA followed by normal surveillance colonoscopy.ConclusionIn patients undergoing surveillance, prior colonoscopy data were not always available and recommendations were often deferred awaiting pathology. Adherence to subsequent surveillance guidelines was suboptimal, especially for LRA followed by normal colonoscopy. Strategies addressing these gaps are needed to optimize implementation of the updated 2020 postpolypectomy guidelines.
| S-EPMC11307611 | biostudies-literature
Project description:The aim of this study is to improve clinicians’ calculation, interpretation and communication of familial colorectal cancer risk, as well as patients’ risk perception and uptake of referral for genetic counselling or for surveillance by colonoscopy for their relatives at risk.
| 2074375 | ecrin-mdr-crc
Project description:BackgroundIn 2012, the new guidelines for the surveillance of IMS in Europe, produced by the European Centre for Disease Prevention and Control (ECDC), were tested in Belgium. This study aimed at (1) testing the usefulness and applicability in the field of the ECDC guidelines for the surveillance of IMS in Europe and (2) surveying IMS throughout Belgium.MethodsFirst, the scenarios, which Belgium is facing, were identified according to the ECDC guidelines. Second, the surveillance strategy and the methods were identified based on the guidelines and adjusted to the Belgium context. Two areas colonised by IMS and 20 potential points of entry (PoE) were selected. Mosquito Magnet Liberty Plus (CO2-baited) traps (23) and oviposition traps (147) were set-up, and larval sampling was performed monthly or bi-monthly from July till October 2012. Finally, the costs and workload of the surveillance activities were compared to the estimates provided by the ECDC guidelines.ResultsSurveillance at 20 potential PoE (complying with scenario 1) revealed that no new IMS were established in Belgium. Surveillance at two sites colonised by IMS (scenario 2) indicated that although control measures have drastically reduced the Ae. j. japonicus population this species is still present. Furthermore, Ae. koreicus is permanently established. For both scenarios, the problems encountered are discussed and recommendations are given. In addition, the actual workload was lower than the estimated workload, while the actual costs were higher than the estimated ones.ConclusionsThe ECDC guidelines are helpful, applicable and efficient to implement surveillance of IMS in Belgium. Recommendations were customised to the local context (political demands, salary and investment costs, and existing expertise). The workload and costs related to the preparatory phase (i.e., planning, contacts with the PoE, writing a protocol) were found to be missing in the cost evaluation suggested in the guidelines. Updates on the occurrence of IMS in Belgium and the related risk for disease agents they can transmit will only be available once a structured and permanent surveillance system is implemented.
| S-EPMC4021692 | biostudies-literature
Project description:We aimed to estimate the cost saving (over the next 10 years) by our trust implementing the new British Society of Gastroenterology (BSG) surveillance guidelines for Barrett's oesophagus (BO).Retrospective endoscopy database analysis.Two endoscopy units of St George's Hospital NHS Trust, London.Gastroscopy records between 2009 and 2012 were retrieved and patients with an endoscopic diagnosis of BO were identified. BO segment length was recorded and the presence (or absence) of intestinal metaplasia in the oesophageal biopsy samples was reviewed from pathology databases. Patients were then stratified into risk groups in accordance with the new BSG guidelines.Nil.The projected surveillance costs using the new and the old guidelines were calculated over the next 10 years and the cost saving by the implementation of the new guidelines thus determined.The 10 year projected cost saving for our trust by implementing the new BO surveillance guidelines was £720 330 (or £72 033 per annum). Projected across the NHS, implementation of the new guidance may save £100 million over the next 10 years.All trusts should review their Barrett's surveillance population and implement these new recommendations expeditiously.
| S-EPMC5369555 | biostudies-other
Project description:BACKGROUND:It is unknown whether clinical parameters differ between migraineurs with and without first-degree family members with migraine. OBJECTIVES:The present cross-sectional study describes differences between familial and sporadic migraine with a focus on migraine characteristics, migraine severity, comorbidities, and treatment. METHOD:From the Danish Headache Center we recruited 358 patients with familial migraine and 1727 patients with sporadic migraine. Each participant was assessed using a validated semi-structured interview. RESULTS:No differences in age (Mean = 44 and 44 [SD = 12.28 and 12.58] for familial and sporadic migraineurs, respectively; P = .900) or sex (295/358 (82.4%) and 1413/1727 (81.8%) women in familial and sporadic migraineurs, respectively; P = .853) were found. Familial migraineurs had more aphasic aura than sporadic migraineurs (41% vs 27%, P = .001). Sporadic migraineurs had more lifetime attacks ie, >100 attacks (45% vs 70%, P < .001) and prolonged attacks ie, lasting >72 hours (5% vs 12%, P < .001) than familial migraineurs. Further, sporadic migraineurs had a higher incidence of concussions (37% vs 41%, P = .001) compared to familial migraineurs. In agreement with a previous study, there was no difference between familial and sporadic migraine regarding triptan response (84% vs 81%, P = .440). CONCLUSION:Headache characteristics, triptan response, and comorbidities where similar in individulas with and without inherited migraine, suggesting that migraine are to be considered a hmogenoues disease. The difference in the clinical presentation of migraine with aura symptoms among patients with familial migraine should be considered in future studies. Further, more severe migraine among patients with sporadic migraine with aura could suggest that sporadic migraineurs have been exposed to stronger or multiple environmental factors and indicate that an early intervention in migraine treatment could lessen the severity of migraine.
| S-EPMC6899493 | biostudies-literature
Project description:BackgroundIt is not known if genetic background, characteristics at diagnosis, physical and psychological well-being, and adherence to a gluten-free diet are comparable between patients with familial or sporadic celiac disease. These issues were investigated in a follow-up study.MethodsAltogether 1064 patients were analyzed for celiac disease-associated serology, predisposing HLA-DQ, and non-HLA genotypes. Medical data were collected from patient records and supplementary interviews. Current symptoms and quality of life were further evaluated with the Gastrointestinal Symptom Rating Scale (GSRS), the Psychological General Well-Being questionnaire (PGWB), and Short Form 36 (SF-36) questionnaires.ResultsFamilial and sporadic groups differed (P < 0.001) in the reason for diagnosis and clinical presentation at diagnosis, familial patients being more often screen-detected (26% vs. 2%, P < 0.001) and having less often gastrointestinal (49% vs. 69%) and severe symptoms (47% vs. 65%). The groups were comparable in terms of histological damage, frequency of malabsorption, comorbidities, childhood diagnoses, and short-term treatment response. At the time of the study, familial cases reported fewer symptoms (21% vs. 30%, P = 0.004) and lower prevalence of all (78% vs. 86%, P = 0.007), neurological (10% vs. 15%, P = 0.013), and dermatological (9% vs. 17%, P = 0.001) comorbidities. Dietary adherence and GSRS scores were comparable, but familial cases had better quality of life according to PGWB and SF-36. High-risk genotype HLA-DQ2.5/DQ2.5 was more frequent among familial cases, and four non-HLA SNPs were associated with familial celiac disease.ConclusionsDespite the greater proportion of high-risk genotypes, familial cases had milder symptoms at presentation than did sporadic cases. Worse experience of symptoms and poorer quality of life in sporadic disease indicate a need for intensified support.
| S-EPMC8163668 | biostudies-literature
Project description:BACKGROUND: Having a relative with inflammatory bowel disease increases the risk for Crohn's disease but may also increase its severity in affected patients. AIMS: To evaluate the influence of a family history on Crohn's disease course and severity. METHODS: 1316 patients followed in the same unit were studied retrospectively. Age at onset, duration of illness, site, and extent of disease were determined in patients with and without a family history. Additionally, disease severity was estimated by the need for medical therapy (steroid and immunosuppressive requirement) and the frequency and extent of excisional surgery. RESULTS: 152 (12%) patients had a family history of inflammatory bowel disease. Duration of follow up was longer in patients with a family history and there were more operations for perforating complications in familial cases. However, the importance of medical therapy, and the incidence and extent of excisional surgery were similar in familial and and sporadic cases. Kaplan-Meier estimated time to prescription of immunosuppressive drugs and first intestinal resection were similar in familial and sporadic cases. When the 152 patients with familial Crohn's disease were paired for sex, location of disease at onset, date of birth, and date of diagnosis with 152 patients sporadic Crohn's disease, the disease severity remained similar in the two groups of paired patients. CONCLUSION: Patients with Crohn's disease and a family history of inflammatory bowel disease do not have a more severe course.
| S-EPMC1760050 | biostudies-other
Project description:This minireview discusses our current understanding of the olfactory dysfunction that is frequently observed in sporadic and familial forms of Parkinson's disease and parkinsonian syndromes. We review the salient characteristics of olfactory dysfunction in these conditions, discussing its prevalence and characteristics, how neuronal processes and circuits are altered in Parkinson's disease, and what is assessed by clinically used measures of olfactory function. We highlight how studies of monogenic Parkinson's disease and investigations in ethnically diverse populations have contributed to understanding the mechanisms underlying olfactory dysfunction. Furthermore, we discuss how imaging and system-level approaches have been used to understand the pathogenesis of olfactory dysfunction. We discuss the challenging, remaining gaps in understanding the basis of olfactory dysfunction in neurodegeneration. We propose that insights could be obtained by following longitudinal cohorts with familial forms of Parkinson's disease using a combination of approaches: a multifaceted longitudinal assessment of olfactory function during disease progression is essential to identify not only how dysfunction arises, but also to address its relationship to motor and non-motor Parkinson's disease symptoms. An assessment of cohorts having monogenic forms of Parkinson's disease, available within the Genetic Epidemiology of Parkinson's Disease (GEoPD), as well as other international consortia, will have heuristic value in addressing the complexity of olfactory dysfunction in the context of the neurodegenerative process. This will inform our understanding of Parkinson's disease as a multisystem disorder and facilitate the more effective use of olfactory dysfunction assessment in identifying prodromal Parkinson's disease and understanding disease progression.
| S-EPMC7273509 | biostudies-literature
Project description:Increased and decreased methylation at specific sequences (hypermethylation and hypomethylation, respectively) is characteristic of tumor DNA compared to normal DNA and promotes carcinogenesis in multiple ways including genomic instability. Long interspersed element (LINE), an abundant class of retrotransposons, provides a surrogate marker for global hypomethylation. We developed methylation-specific multiplex ligation-dependent probe amplification assays to study LINE-1 methylation in cases of colorectal, gastric, and endometrial cancer (N = 276), stratified by patient category [sporadic; Lynch syndrome (LS); familial colorectal cancer type X (FCCX)] and microsatellite instability status. Within each patient group, LINE-1 showed lower methylation in tumor DNA relative to paired normal DNA and hypomethylation was statistically significant in most cases. Interestingly, normal colorectal mucosa samples from different patient groups displayed differences in LINE-1 methylation that mirrored differences between the respective tumor tissues, with a decreasing trend for LINE-1 methylation from patients with sporadic colorectal cancer to LS to FCCX. Despite the fact that the degree of LINE-1 methylation is generally tissue specific, normal colorectal mucosa, gastric mucosa, and endometrium from LS patients showed similar levels of LINE-1 methylation. Our results suggest that the degree of LINE-1 methylation may constitute a "field defect" that may predispose normal tissues for cancer development.
| S-EPMC3383956 | biostudies-literature
Project description:RationaleHeterozygous mutations in the coding regions of the telomerase genes, TERT and TERC, have been found in familial and sporadic cases of idiopathic interstitial pneumonia. All affected patients with mutations have short telomeres.ObjectivesTo test whether telomere shortening is a frequent mechanism underlying pulmonary fibrosis, we have characterized telomere lengths in subjects with familial or sporadic disease who do not have coding mutations in TERT or TERC.MethodsUsing a modified Southern blot assay, the telomerase restriction fragment length method, and a quantitative polymerase chain reaction assay we have measured telomere lengths of genomic DNA isolated from circulating leukocytes from normal control subjects and subjects with pulmonary fibrosis.Measurements and main resultsAll affected patients with telomerase mutations, including case subjects heterozygous for newly reported mutations in TERT, have short telomere lengths. A significantly higher proportion of probands with familial pulmonary fibrosis (24%) and sporadic case subjects (23%) in which no coding mutation in TERT or TERC was found had telomere lengths less than the 10th percentile when compared with control subjects (P = 2.6 x 10(-8)). Pulmonary fibrosis affectation status was significantly associated with telomerase restriction fragment lengths, even after controlling for age, sex, and ethnicity (P = 6.1 x 10(-11)). Overall, 25% of sporadic cases and 37% of familial cases of pulmonary fibrosis had telomere lengths less than the 10th percentile.ConclusionsA significant fraction of individuals with pulmonary fibrosis have short telomere lengths that cannot be explained by coding mutations in telomerase. Telomere shortening of circulating leukocytes may be a marker for an increased predisposition toward the development of this age-associated disease.
| S-EPMC2556455 | biostudies-literature