OSDH reminds physicians of Oklahoma's Newborn Hearing Screening Program.
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PURPOSE: Over 30 international studies are exploring newborn sequencing (NBSeq) to expand the range of genetic disorders included in newborn screening. Substantial variability in gene selection across programs exists, highlighting the need for a systematic approach to prioritize genes. METHODS: We assembled a data set comprising 25 characteristics about each of the 4390 genes included in 27 NBSeq programs. We used regression analysis to identify several predictors of inclusion and developed a machine learning model to rank genes for public health consideration. RESULTS: Among 27 NBSeq programs, the number of genes analyzed ranged from 134 to 4299, with only 74 (1.7%) genes included by over 80% of programs. The most significant associations with gene inclusion across programs were presence on the US Recommended Uniform Screening Panel (inclusion increase of 74.7%, CI: 71.0%-78.4%), robust evidence on the natural history (29.5%, CI: 24.6%-34.4%), and treatment efficacy (17.0%, CI: 12.3%-21.7%) of the associated genetic disease. A boosted trees machine learning model using 13 predictors achieved high accuracy in predicting gene inclusion across programs (area under the curve = 0.915, R2 = 84%). CONCLUSION: The machine learning model developed here provides a ranked list of genes that can adapt to emerging evidence and regional needs, enabling more consistent and informed gene selection in NBSeq initiatives.
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Between 1974 and 1976, school nurses in Montreal screened 26,947 children in grades seven and eight for adolescent idiopathic scoliosis. Of these, 4.6% had scoliosis positively diagnosed by radiographic examination; 4.5% were idiopathic in nature. The nurses were part of the Shriners School Scoliosis Program--a program that has proven to be a clinically sound, cost effective way of detecting early scoliosis, providing consistent follow-up and treatment and preventing progression of the condition. What follows is a description of how cooperation and planning among existing health institutions can make a preventive program work.
Recognizing the importance of early detection of breast cancer, the Dow Chemical Company initiated a breast cancer awareness program in 1988. Evaluation of operational aspects of mammography screening component revealed that about half (53%) of 1186 eligible women in the evaluation cohort took part, although participation was three times higher for active than for retired employees. Eleven per cent of participants were considered to have "positive" screens, ie, had roentgenogram films with suspicious areas, and at least 82% of these women had follow-up medical services within 1 year of screening, as determined by a review of group insurance claims records. Two women with positive mammograms were subsequently diagnosed and treated for breast cancer within 2 months of screening. None of the women with negative mammograms developed breast cancer in the subsequent year. The suitability of group insurance data resources for responding to health care delivery questions is discussed.
A cervical screening campaign is implemented in the Isere department since 1990 for women aged 50 to 69, together with breast cancer and colo-rectal cancer screening. The attendance rate is about 30% but a survey performed among this population shows that 68.6% of these women did presented for screening during the year following their invitation. One and a half per cent of all smears were abnormal or ASCUS smears. Cancer detection rate for invasive cancer and CIN III was 1.3/1000. General practitioners and gynaecologists took the same part in the programme. During a postal survey conducted among them, they declared that they felt concerned with cancer screening, even if they met some difficulties. This results suggest that nominative invitations and a good cooperation of GPs may improve the coverage of eligible women. For the future success of the National Programme, which is to be implemented in France, organisational arrangements have to be set up. The review of positive points and difficulties met by Isere's local programme may help to discuss it.
From 1.1.1991-31.5.1989, we evaluated a selective screening system for detection of diabetes in pregnancy in an unselected consecutive population of 665 pregnant women. The screening procedure was carried out by the general practitioners and the midwives. The screening was based on clinical criteria for potential diabetes consisting of previous delivery of a large baby, a family history of diabetes and obesity combined with examination for glucosuria and determination of the fasting blood glucose concentration. Only 2% of the pregnant women were examined correctly and only two out of 665 women were found to have diabetes in pregnancy. The screening procedure failed when it was organised by general practitioners and midwives.
The effect of a population screening for hypertension was assessed through a subsequent survey performed 1 year later. All the hypertensives identified at the first visit (239 subjects, 15.6% of the whole screened population) were invited for a re-examination: the adhesion rate was 84.5%. After the screening, a high proportion of subjects (74.7%) had contacted their physicians because of their blood pressure. The most common advice physicians gave was to have further measurements of blood pressure (72.8%). Laboratory tests were prescribed in 62 patients (41.1%), but a complete assessment of a target organ damage was carried out in few cases (1.9%). Only 19.5% of patients started a course of treatment during the year following the screening and no more than one-third of those with moderate to severe hypertension. Out of the 176 subjects showing other cardiovascular risk factors at the screening, only 12 reported they had modified their habits 1 year later. Our results suggest that a screening for hypertension, when performed without any liaison with other medical facilities, seems to have a poor impact on physicians' and patients' attitudes towards hypertension.
Most fragile X [fra(X)] males in New York State have not been identified. Hence, a large number of female relatives are unaware of their risks for having an affected child. A program was established in New York State in 1987 to screen for the fra(X) syndrome in mentally retarded males with living relatives. The goal of the program is to identify affected males and inform their families about the diagnosis. In this way relatives would be able to assess their risks for having a fra(X) male. In order to identify the males a screening form was developed to assess 10 features which included physical characteristics, behavior, and family history. Males who exhibited at least 5 of these manifestations were selected for cytogenetic analysis. Any male who had macroorchidism or a family history of mental retardation was also included. A total of 995 males have been screened of which 352 (35%) were selected for cytogenetic analyses. Seventeen (10.5%) of the 161 completed studies were positive for fra(X). A large number of possible female carriers were identified in the families of the propositi. This program identifies fra(X) males in a population of the mentally retarded for whom there had been no previous diagnosis. By using a two-step procedure, it is possible to screen a large population of the mentally retarded for fra(X) without testing each male cytogenetically.
BACKGROUND: Mammography use is increasing in the United States, but most women older than 50 years still are not being screened regularly. A multicomponent program, with components for women and physicians, was conducted to increase screening among women aged 50 to 74 years in an independent practice association (IPA)-model health maintenance organization (HMO). METHODS: The participating women and physicians were surveyed in four waves to evaluate the program. We report on changes in mammography practices by both women and physicians between 1988 (preintervention year) and 1992 (postintervention year). Bivariate and multivariate analyses were calculated. RESULTS: The proportion of responding HMO physicians who recommended annual mammograms for women aged 50 to 74 years increased by 16 percent from 1988 to 1992 compared with an increase of 10 percent for control group physicians (nonsignificant). There was a 30 percent increase from 1988 to 1992 in the proportion of HMO women respondents who reported having had a mammogram in the past year compared with a 19 percent increase among control group women. The difference between these differences was highly significant. The intervention had the strongest effect on women with incomes of less than $30,000. CONCLUSIONS: A multicomponent program in an IPA-model HMO resulted in significant increases in the proportion of HMO women who had mammograms. Similar approaches should be tested in other settings.
This article describes the development of the Cultivando La Salud program, an intervention to increase breast and cervical cancer screening for Hispanic farmworker women. Processes and findings of intervention mapping (IM), a planning process for development of theory and evidence-informed program are discussed. The six IM steps are presented: needs assessment, preparation of planning matrices, election of theoretic methods and practical strategies, program design, implementation planning, and evaluation. The article also describes how qualitative and quantitative findings informed intervention development. IM helped ensure that theory and evidence guided (a) the identification of behavioral and environmental factors related to a target health problem and (b) the selection of the most appropriate methods and strategies to address the identified determinants. IM also guided the development of program materials and implementation by lay health workers. Also reported are findings of the pilot study and effectiveness trial.
AIMS AND BACKGROUND: A mammographic screening for breast cancer was started in 1989 in two municipalities of Massa-Carrara province. This paper describes the results of the first two years and evaluates the quality of the program via early indicators. METHODS: We calculated the attendance rate at first screening, the proportion of women recalled for further examinations (recall rate), the ratio between benign lesions and carcinomas detected by screening, the staging of the screen detected cancers and the ratio between detection rate and expected incidence (P/I ratio). RESULTS: Out of 14826 invited women 10407 (70.2%) attended the first screening; 266 (2.6%) of them were referred for further investigations but only 63 (0.6%) required surgical biopsy. A histological confirmed malignancy was found in 39 women corresponding to a detection rate of 3.7/1000. According to pTNM classification 89.1% of all cancers were either Tis or in stage T1; and in two third of the cases there was no nodes involvement. CONCLUSION: The results achieved so far, evaluated via early indicators, show a good start of the program.
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BACKGROUND AND PURPOSE: Since effective and affordable recruitment methods are essential for the widespread implementation of mammographic screening for detection of breast cancer, we studied the effectiveness, the costs, and the cost-effectiveness of various recruitment strategies in the population targeted by a pilot Australian program that offered free mammography screening between 1988 and 1990. METHODS: We evaluated three public recruitment strategies--local newspaper articles, community promotion, and promotion to physicians--and five personal strategies--invitation letters with or without specified appointment times, either alone or with a follow-up letter, or telephone call to nonattenders. The effectiveness of public recruitment strategies was estimated from monthly attendance rates by Poisson regression analysis, while the probability of attendance in response to personal strategies was calculated using logistic regression analysis. Costs were determined by resource usage studies. The cost-effectiveness ratios for personal strategies were determined using decision analysis. RESULTS: The costs in 1988-1989 Australian dollars per woman recruited were $22 for local newspaper articles and $106 for community promotion. No detectable increase in attendance resulted from promotion to physicians. When the cost of reserving an appointment was considered, the most cost-effective personal recruitment strategy was an invitation letter without a specified appointment time, followed by a second letter to nonattenders. This strategy recruited 35.6% of women in the sample targeted and cost $10.52 per attendee. In comparison, the most effective personal recruitment strategy was a letter with a specified appointment time followed by a second letter to nonattenders, which recruited 44.1% of women at an average cost of $19.99 and a marginal cost of $59.71 per additional attendee. CONCLUSIONS: Personal recruitment strategies were more cost-effective than public strategies. The most cost-effective personal strategy was an invitation letter without a specified appointment time, followed by a second letter to nonattenders.
STUDY OBJECTIVE: We assess the feasibility, effectiveness, and cost of routinely recommended HIV/sexually transmitted disease screening in an urban emergency department (ED). METHODS: From April 2003 to August 2004, patients aged 15 to 54 years were offered rapid HIV testing, and those aged 15 to 25 years were also offered gonorrhea and chlamydia testing (nucleic acid amplification), Monday through Friday, 11 am to 8 pm. Infected patients were referred for treatment and care. Prevalence, treatment rates, and cost were assessed. RESULTS: Among 3,030 patients offered HIV testing, 1,447 (47.8%) accepted, 8 (0.6%) tested positive, and 3 (37.5%) were linked to care. Among 791 patients offered sexually transmitted disease testing, 386 (48.8%) accepted, 320 provided urine (82.9%), 48 (15.0%) tested positive, and 42 (87.5%) were treated for gonorrhea or chlamydia. The program cost was $72,928. Costs per HIV-infected patient identified and linked to care were, respectively, $9,116 and $24,309; cost per sexually transmitted disease-infected patient treated was $1,736. The program cost for HIV/sexually transmitted disease screening was only $14,340 more than if we screened only for HIV. CONCLUSION: Through ED-based HIV/sexually transmitted disease screening, we identified and treated many sexually transmitted disease-infected patients but identified few HIV-infected patients and linked even fewer to care. However, sexually transmitted disease screening can be added to HIV screening at a reasonable cost.
This study was motivated by the desire to identify patients with congenital hypothyroidism for early treatment. A pilot project was developed by the Department of Nuclear Medicine and initial screening was began at 2 of the maternity houses in Ulaanbaatar. The methodology used for these activities involved collecting samples by heel prick at 3-4 days of age and analysed for TSH by immunoradiometric testing (Skybio Ltd, United Kingdom). From July 2000 to September 2001, 1,529 babies were screened. Although there were no positive screens from neonatal screening, TSH was high and T4 was low in 2 cases referred by the endocrinologist and therefore leading to treatment. The programme appears to be of important significance to the country and thus committed to further improving the implementation of the program.
Chronic viral hepatitis frequently goes undetected until cirrhosis develops. Although the effect of interferon on the natural history of hepatitis B virus (HBV) or hepatitis C virus (HCV) infection in asymptomatic persons is unknown, treatment may modify the course of the infection, producing cures in some. In September 1992, screening for HBV and HCV was offered in 40 centers throughout the United States. Demographic features, potential risk factors, and symptoms were studied. Blood samples were obtained for the determination of serum alanine aminotransferase levels and for markers of HBV and HCV infection. Thirteen thousand nine hundred ninety seven subjects were screened. The prevalence of infection with HBV or HCV was 24.8% (HBV 17.8%; HCV 7.0%; and both 2.8%). Hepatitis B and C disease was present in 0.7% and 4.4% of the population, respectively. Risk factors for HBV and HCV infection were similar in: blood transfusions, hemodialysis, IV drug use, and sex with an IV drug user. For HBV infection, sex with multiple partners, increasing age, and birth in South East Asia or Africa were additional risk factors. The cost to find a case of HCV infection is less than the costs for finding many other treatable diseases. Screening for HBV, though more costly, is reasonably efficient, and simultaneous screening for HBV and HCV provides greater efficiency. It is practical to consider screening for HBV and HCV in the United States, particularly if any risk factor is present. Improved treatment strategies will make screening even more cost effective.
Epidemiologic monitoring is a process which uses data generated from the screened population as a quality control measure. Most commonly, laboratories monitor the percentage of women with screen positive test results, i.e., with test results falling at or above a specified multiple of the median (MoM) for open neural tube defect screening or, with a risk at or above a specified risk cut-off for Down's syndrome screening. These percentages are sensitive to inaccurate and imprecise assays, inappropriate reference data, and long term assay drift. In fetal Down's syndrome screening it is necessary to simultaneously monitor two or more assays, which is accomplished by monitoring the median MoM for each assay (which should be 1.0 within statistical limits) calculated using patient MoM values. Monitoring the median MoM can identify inappropriate adjustment factors for variables which affect the MoM such as maternal weight. Epidemiologic monitoring is a useful tool for identifying problems which are not readily apparent using traditional quality control measures.