Selective Screening Of Patients Research Articles

Detection rates of asymptomatic carotid artery stenosis and atrial fibrillation by selective screening of patients without cardiovascular disease

BackgroundIndividuals with significant asymptomatic carotid artery stenosis (ACAS) and atrial fibrillation (AF) could benefit from specific interventions to prevent heart attack and stroke, but are often clinically ‘silent’. We aimed to determine detection rate of ACAS and AF by screening, targeting a population at increased cardiovascular risk. MethodsData on adults who attended voluntary and self-funded commercial screening clinics in the United States or the United Kingdom between 2008 and 2013 were used. The Atherosclerotic Cardiovascular Disease (ASCVD) risk equation was applied to each participants and detection rates of targeted screening for ≥50% ACAS and AF to those at highest risk of CVD was assessed. ResultsAmong 0.4 million individuals between 40 and 80 years, without CVD, 6191 (1.6%) had ACAS and 1026 (0.3%) had AF. Selective screening of participants with a predicted 10-year CVD risk of ≥20% identified 40% of ACAS cases, a prevalence of 3.7%, leading to a number needed to screen (NNS) of 27, as well as 39% of AF cases, a prevalence of 0.6%, with a NNS of 170. Selective screening of those with a predicted 10-year CVD risk of ≥15% identified 54% of ACAS cases, a prevalence of 3.3%, and an NNS of 31, as well as 51% of AF cases, a prevalence of 0.5%, with an NNS of 195. ConclusionsSelective screening for ACAS and AF implemented in ASCVD risk assessment greatly reduces the NNS when compared with population-level screening with detection rates of ACAS and AF substantially greater in people at higher predicted CVD risk.

Селективный скрининг больных наследственными дегенерациями сетчатки для выявления целевой группы для генотерапии воретигеном непарвовеком

RPE65-ассоциированные ретинопатии привлекли огромное внимание благодаря успешной генной терапии. Текущее исследование направлено на оценку частоты RPE65-зависимых форм наследственной дегенерации сетчатки в РФ, а также характеристику изменений в гене RPE65 у российских больных. Из 189 неродственных больных с диагнозами при обращении пигментная дегенерация сетчатки или врожденный амавроз Лебера выявлено 11 больных наследственными дегенерациями сетчатки (НДС) с биалелльными патогенными вариантами в гене RPE65, что составило 5,8% в исследуемой выборке. Наиболее частая мутация - c.370C>T (p.Arg124*) встретилась на пяти хромосомах. Выявлено два ранее не описанных варианта c.1024T>C (p.Tyr342His), c.1340T>C (p.Leu447Pro), классифицированных как вероятно патогенные. Существенный вклад RPE65-зависимых форм НДС в РФ и возможность генной терапии этих больных, а также отсутствие мажорных мутаций и горячих экзонов в гене RPE65 доказывают необходимость молекулярно-генетической диагностики больных различными формами НДС методом массового параллельного секвенирования. RPE65-associated retinopathies have received tremendous attention due to successful gene therapy. The current study is aimed at assessing the frequency of RPE65-dependent forms of hereditary retinal degeneration in the Russian Federation, as well as characterizing changes in the RPE65 gene in Russian patients. Of 189 unrelated patients with a referral diagnosis of RP or LCA, 11 patients with IRD with biallelic pathogenic variants in the RPE65 gene were identified, which accounted for 5.8% in the study sample. The most frequent mutation, c.370C>T (p.Arg124*), was found on five chromosomes. Two previously undescribed variants c.1024T>C (p.Tyr342His), c.1340T>C (p.Leu447Pro), classified as probably pathogenic, were identified. The significant contribution of RPE65-dependent forms of IRD to the Russian Federation and the possibility of gene therapy for these patients, as well as the absence of major mutations and hot exons in the RPE65 gene, proves the need for molecular genetic diagnosis of patients with various forms of IRD using the targeted next-generation sequencing (NGS) method.

Selective screening of patients with associated somatic diseases as a method of early detection of acromegaly

BackgraundBackgraund: Acromegaly is a multi-organ disabling disease, the effectiveness of treatment of which directly depends on timely diagnosis. Latent course and delayed diagnosis increase the exposure of pathological hypersecretion of growth hormone and insulin-like growth factor-1, contributing to the development of irreversible systemic and metabolic changes in the body that negatively affect survival.AimsAims: The aim of the study was to clinically test a comprehensive diagnostic approach using selective screening to detect cases of acromegaly in patients with combined somatic diseases.Materials and methodsMaterials and methods: The diagnostic search algorithm included a 2-stage questionnaire, expert assessment of the clinical status, laboratory and instrumental examination. The inpatient examination included the use of additional laboratory and instrumental methods and expert evaluation of the results obtained by filling out a doctor’s questionnaire. When the score was higher than 18 points, a more specific examination was performed: double determination of the insulin-like growth factor-1 level, oral glucose tolerance test with determination of the nadir of growth hormone value, and MRI of the brain with contrast enhancement. The diagnosis of acromegaly was made on the basis of personal data, expert assessment of the clinical status, results of laboratory and instrumental examinations.ResultsResults: A survey of 1249 patients with combined systemic and metabolic disorders conducted using the point system allowed us to suspect acromegaly in 367 patients (29.4%), who were offered further examination. The majority of patients were previously seen by specialists for diabetes mellitus (79.3%) or thyroid pathology (10%). In the result of inpatient ­examination of 329 patients, 35 (10.6%) patients showed an increase in the blood level of IGF-I. In 19 patients, a persistent increase in the level of IGF-I was combined with the absence of GH suppression of less than 0.4 ng/ml against the background of glucose load. During MRI in 9 patients, pituitary adenoma was detected (in 2 — microadenoma and 7 — ­macroadenoma).ConclusionsConclusions: As a result of the study, among the group of 1249 patients (mean age 58±13 years) with the presence of concomitant diseases, 9 newly identified patients with acromegaly were found who were prescribed adequate treatment. The introduction of selective screening technology into the practice of an endocrinologist will improve the effectiveness of diagnostic search for patients with acromegaly, more accurately assess the prevalence of the disease in Russia and the need for specialized medical care.

Cost-Effectiveness Analysis of Screening for Persistent Hepatitis E Virus Infection in Solid Organ Transplant Patients in the United Kingdom: A Model-Based Economic Evaluation

BackgroundDespite potentially severe and fatal outcomes, recent studies of solid organ transplant (SOT) recipients in Europe suggest that hepatitis E virus (HEV) infection is underdiagnosed, with a prevalence of active infection of up to 4.4%. ObjectivesTo determine the cost-effectiveness of introducing routine screening for HEV infection in SOT recipients in the UK. MethodsA Markov cohort model was developed to evaluate the cost-utility of 4 HEV screening options over the lifetime of 1000 SOT recipients. The current baseline of nonsystematic testing was compared with annual screening of all patients by polymerase chain reaction (PCR; strategy A) or HEV-antigen (HEV-Ag) detection (strategy B) and selective screening of patients who have a raised alanine aminotransferase (ALT) value by PCR (strategy C) or HEV-Ag (strategy D). The primary outcome was the incremental cost per quality-adjusted life-year (QALY). We adopted the National Health Service (NHS) perspective and discounted future costs and benefits at 3.5%. ResultsAt a willingness-to-pay of £20 000/QALY gained, systematic screening of SOT patients by any method (strategy A-D) had a high probability (77.9%) of being cost-effective. Among screening strategies, strategy D is optimal and expected to be cost-saving to the NHS; if only PCR testing strategies are considered, then strategy C becomes cost-effective (£660/QALY). These findings were robust against a wide range of sensitivity and scenario analyses. ConclusionsOur model showed that routine screening for HEV in SOT patients is very likely to be cost-effective in the UK, particularly in patients presenting with an abnormal alanine aminotransferase.

Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis

BackgroundThe aim of the present study was to establish a non-invasive, fast and robust enzymatic assay to confirm fatty acid oxidation defects (FAOD) in humans following informative newborn-screening or for selective screening of patients suspected to suffer from FAOD.Material/methodsThe reliability of this method was tested in whole blood from FAOD patients with specific enzymatic defects. Whole blood samples were assayed in 30 medium chain- (MCADD, age 0 to 17 years), 6 very long chain- (VLCADD, age 0 to 4 years), 6 long chain hydroxy- (LCHAD, age 1 to 6 years), 3 short chain- (SCADD, age 10 to 13 years) acyl-CoA-dehydrogenase- and 2 primary carnitine transporter deficiencies (CTD, age 3 to 5 years). Additionally, 26 healthy children (age 0 to 17 years) served as controls. Whole blood samples were incubated with stable end-labeled palmitate; labeled acylcarnitines were analyzed by tandem mass spectrometry and compared with controls and between patient groups (Mann-Whitney Rank Sum Test). Concentrations of specific labeled acylcarnitine metabolites were compared between particular underlying MCADD- (ANOVA), VLCADD- and LCHADD- genetic variants (descriptive data analysis).Results11 different acylcarnitines were analyzed. MCADD- (C8-, C10-carnitine, C8/C10- and C8/C4-carnitine), VLCADD- (C12-, C14:1-, C14:2-carnitine, C14:1/C12- and C14:2/C12-carnitine), LCHADD (C16-OH-carnitine) as well as CTD- deficiency (sum of all acylcarnitines) samples could be clearly identified and separated from control values as well as other FAOD, whereas the sum of all acylcarnitines was not conclusive between FAOD samples. Furthermore, C4- (SCADD), C14- (VLCADD) and C14-OH-carnitines (LCHADD) were discriminating between the FAOD groups. Metabolic parameters did not differ significantly between underlying MCADD variants; similar results could be observed for VLCADD- and LCHADD- variants.ConclusionThis functional method in whole blood samples is relatively simple, non-invasive and little time consuming. It allows to identify MCADD-, VLCADD-, LCHADD- and carnitine transporter deficiencies. The genetic phenotypes of one enzyme defect did not result in differing acylcarnitine patterns in MCADD, VLCADD or LCHADD in vitro.

Glutaric AciduriaType 1: Clinical and Molecular Study in Iranian Patients, 3 Novel Mutations.

Glutaricaciduria type 1 (GA1), is a rare, treatable neuro metabolic disease, due to glutaryl- CoA dehydrogenase (GCDH) gene mutation.In regions without neonatal blood screening (NBS), patients are diagnosed in symptomatic period. This study was carried out to assess patients with GA1 for clinical, biochemical, neuroimaging findings and GCDH gene mutations analysis. In this cross-sectional study, clinical manifestation, neuroimaging and metabolic findings of eleven Iranian GA1 patients of MofidChildren's Hospital, Tehran, Iranbetween 2001 and 2011,were evaluated.Mutational analysis of the GCDH gene was performed on genomic DNA. Genomic DNA was extracted from peripheral lymphocytes using QIAamp DNA Micro Kit (Qiagen). All 11 exons and flanking intronic regions of the GCDH gene were amplified by polymerase chain reaction (PCR). All patients were diagnosed before 32 months old. Clinical presentations of GA1 include acute encephalopathic crisis and/or developmental delay and macrocephaly. Seven GCDH gene mutations were detected in our patients. The most frequent GCDH mutations occurred in exon7 then exon8, 10 and11. G244 C in exon7, R294 Q in exon8 and N373 S in exon 10 were three novel mutations. There was no correlation between of genotype and phenotype in our patients. Physician must remember GA1 in differential diagnosis of acute encephalopathic crisis, macrocephaly, developmental delay, movement disorders such as dystonia and dyskinesia. Early detection, proper treatment and selective screening of patients' siblings can prevent neurologic disabilities.

Association of Diabetes Mellitus and Pancreatic Adenocarcinoma: A Meta-Analysis of 88 Studies

Pancreatic ductal adenocarcinoma (PDAC) is often diagnosed at an advanced, incurable stage. Previous epidemiological data suggests that diabetes mellitus (DM) is a risk factor for PDAC, which may be important in early detection. However, the strength of this association needs to be determined, taking into account a number of recently published studies. A systematic review of the association between DM and PDAC was undertaken by searching electronic databases and journal references from 1973 to 2013. Summary estimates were obtained separately for case-control and cohort studies by means of a 'random effects' approach. Data pertaining to the DM was recorded and plotted at both an individual and study level, with the relative risks (RR) pooled separately to determine the relationship of DM duration and PDAC. A total of 88 independent studies, including 50 cohort and 39 case-control studies were examined. The overall summary-combined RR was 1.97 (95 % CI 1.78-2.18) with marked heterogeneity that could not be clearly attributed to any subgroup analyses. The risk of PDAC was greatest early after the diagnosis of DM but remained elevated long after the diagnosis. The individual-level RR ranged from 6.69 at less than 1 year to 1.36 at 10 years. The results demonstrate a strong association between PDAC and recently diagnosed DM, which may be attributed to a paraneoplastic effect. However, the presence of diabetes also remains a modest risk factor for the development of PDAC long-term. Selective screening of patients with new-onset DM for PDAC needs to be considered.

Hepatitis B screening before chemotherapy: a survey of practitioners' knowledge, beliefs, and screening practices.

Hepatitis B virus (HBV) reactivation is a potentially fatal complication of chemotherapy that can be largely prevented with medication, provided that asymptomatic HBV carriers are identified. We explored the knowledge, beliefs, and practices of Canadian oncologists/hematologists regarding HBV screening before chemotherapy. A novel questionnaire was mailed to all practicing hematologists/oncologists, where publicly accessible online physician registries facilitated identification of these specialists (71% of the Canadian physician population). Of 504 potentially eligible practitioners, 311 (62%) responded, of whom 246 indicated that they administered chemotherapy and were thus included in final analyses. Respondents tended to underestimate the risk of HBV reactivation, and recognition of the major risk factor for HBV carriage (ie, birth in an endemic area) was low. Forty percent of respondents reported rarely or never testing for HBV before chemotherapy, and 36% reported screening only those patients with HBV risk factors. In multivariate analysis, having a predominantly hematologic practice, practitioner experience with HBV reactivation, ability to correctly estimate the risk of HBV reactivation, fewer years in practice, and female sex were independently associated with an increased likelihood of screening for HBV. Canadian oncologists and hematologists tend to underestimate the risk of HBV reactivation and report relatively low HBV screening rates. Among those practitioners who do screen, the favored strategy is selective screening of patients with HBV risk factors. However, oncologists'/hematologists' knowledge regarding risk factors for HBV carriage seems to be low, potentially undermining the success of a selective screening strategy.

066 Assessment of carotid artery stenosis before coronary artery bypass surgery

Extracranial internal carotid artery stenosis is a risk factor for perioperative stroke in patients undergoing coronary artery bypass (CAB) surgery. Although both selective and nonselective methods of preoperative carotid screening have been advocated, it remains unclear if this screening is clinically relevant. Files of patients consecutively undergoing CAB were reviewed. Patients were retrospectively stratified into high- or low-risk groups according to risk factors for significant carotid stenosis and perioperative stroke identified in the literature: presence of peripheral vascular disease, carotid bruit, diabetes mellitus, age over 70 years and/or previous history of cerebrovascular disease. Prevalence of carotid stenosis detected by ultrasonography, surgical management, and perioperative stroke rates were determined in each group. 205 consecutive patients underwent preoperative carotid screening. The prevalence of significant carotid stenosis detected by ultrasonography was 5.8%. Univariate analysis confirmed that peripheral vascular disease (p = 0.005), carotid bruit (p = 0.003) and diabetes mellitus (p = 0.05) were significant risk factors for stenosis. Carotid stenosis was a risk factor for stroke (p = 0.03). Prevalence of carotid stenosis was higher in high-risk group than in low-risk group (9.1% vs 1.2%; p<0.05). All concomitant or staged carotid endarterectomies/CAB (5/205) and all patients who suffered perioperative strokes (5/205) were in the high-risk group (p = 0.01). In our cohort, selective screening of patients with either an age over 70, a carotid bruit, a history of cerebrovascular disease, a diabete mellitus or a peripheral vascular disease would have reduced the screening load by 40% with trivial impact on surgical management or neurologic outcomes.

Application of Speculoscopy in the diagnosis of uterine cervical neoplasia

Objective: To evaluate whether speculosocopy, when combined with the Papanicolaou smear, can improve the detection rate of cervical pathology, as compared with Pap smear alone. Materials and Methods: 100 patients were randomly selected and prospectively studied among those who were referred to the department of obstetrics and gynecology, Yonsei University College of Medicine, Seoul, Korea from Feb to May 2002. All the 100 patients were subjected to Pap smear, speculospoy, and colposcopy investigations in successioi and underwent colposcopy directed biopsy, regardless of the findings of the colposcopy. Results: Speculoscopy had a sensitivity of 80% and using colposcopy as a standard, it had a sensitivity of 81%, ; specificity of 97% and a positive precidtive value of 98%. Of the 14 patients with atypical cells on Pap smear, 6 ha( positive histologic findings and of these 6 patients, 4 had positive speculoscopic findings. Of the patients with negative Pap smear result, 11 had positive histologic findings and of these 11 patients, 8 had positive speculoscopic findings. 0 the patients with negative results for PPS(Pap smear plus Speculospopy), 3 patients had positive pathologies, but noteworthily, all of which were LGSIL(low grade squamous intraepithelial lesion). Of the 19 patients with negative results for PPS2 2 had positive findings on repeated Pap smear, which were CINIII, and CINI, respectively. Conclusion: Speculoscopy combined with Pap smear can yield a higher percentage of detection rate in women with biopy-confirmed cervical pathology than the use of the Pap smear as a sole screening test and therefore, can prevent the delay of the treatment due to the high false negative rate of Pap smear. In addition, the significantly higher prediction o positive colposcopic findings makes s1eculoscopy a promising tool for the selective screening of patients for colposcopy.

The association between depressive symptoms and health status in patients with chronic pulmonary disease

This study evaluated the association between depressive symptoms and health related quality of life (HRQoL) in patients with chronic pulmonary disease using both general and disease-specific HRQoL measures. A cross-sectional analysis of HRQoL measures completed by patients enrolled in the Department of Veteran Affairs Ambulatory Care Quality Improvement Project. 1252 patients with chronic pulmonary disease screened positive for emotional distress and returned the Hopkins Symptom Checklist-20 (SCL-20). 733 of 1252 had a score of 1.75 or greater on the SCL-20 indicating significant depressive symptoms. Depressive symptoms were associated with statistically significantly worse general and pulmonary health as reflected by lower scores on all sub-scales of both the Medical Outcomes Short Form-36 and the Seattle Obstructive Lung Disease Questionnaire. In fact, 11% to 18% of the variance in physical function sub-scales was attributed to depressive symptoms alone. Patients with chronic pulmonary disease and depressive symptoms reported significantly more impaired functioning and worse health status when compared to those patients without depressive symptoms. Because there are highly effective treatments for depression, selective screening of patients with chronic pulmonary disease for depression may identify a group that could potentially benefit from treatment interventions.

The utility of dobutamine echocardiography in preoperative evaluation for elective aortic surgery

Preoperative cardiac evaluations have been advocated prior to major vascular procedures to reduce the incidence of postoperative cardiac complications. This study was undertaken to evaluate the efficacy and predictive value of routine dobutamine echocardiography (DE) in the screening of patients undergoing elective aortic surgery. Dobutamine echocardiography was performed preoperatively on all patients having elective aortic procedures by our university surgical group from June 1995 to August 1996. The cardiac morbidity and mortality from this group were compared with that of a similar group undergoing elective aortic procedures from June 1993 to May 1995 with no dobutamine echocardiography (NDE). Although there was no statistically significant difference in either overall mortality (4.4% in NDE vs. 2.3% in DE) or cardiac mortality (2.9% in NDE vs. 0% in DE) between the two groups, cardiac events occurred only in those patients with previous coronary artery disease. In addition, dobutamine echocardiography had a negative predictive value of 97% Although routine screening is not necessary, selective screening of patients using dobutamine stress echocardiography is justified because of its high negative predictive value.