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PubMed1993

Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.

Tay-Sachs disease (GM2 gangliosidosis, type 1; TSD) is an autosomal recessive GM2 gangliosidosis resulting from the deficient activity of the lysosomal hydrolase beta-hexosaminidase A (Hex A). With a carrier frequency estimated at 1 in 25, it is a common lysosomal disorder in the Ashkenazi Jewish population. Tay-Sachs disease has provided the prototype for the prevention of severe recessive genetic diseases. Molecular analysis of the Hex A gene (HEXA) of Ashkenazi Jewish individuals affected with Tay-Sachs disease revealed that three common mutations cause the infantile and adult onset forms of the disease; a four base insertion in exon 11, a splice junction mutation in intron 12 and a point mutation in exon 7 (G269S). A study was undertaken to determine whether mutation analysis would be useful in TSD screening programs in identifying carriers and clarifying the status of individuals whose enzyme assays are inconclusive. Ashkenazi Jewish individuals who had been diagnosed as carriers, inconclusives by enzyme assay and non-carriers with low normal enzyme levels in the Mount Sinai Tay-Sachs Disease Prevention Program were examined for the presence of the three mutations using polymerase chain reaction (PCR) and allele specific oligonucleotide (ASO) hybridization. The insertion mutation was present in 29 of 34 carriers and 2 of 36 inconclusive individuals, the splice junction mutation was found in 4 of 34 carriers and the G269S mutation was found in 1 of 34 carriers. Of the 313 non-carrier individuals with normal enzyme activity in the lower normal range, one was positive for the splice junction mutation.(ABSTRACT TRUNCATED AT 250 WORDS)

Base Sequence↗

PubMed2004

[Screening program and risk factors on pregnancy-induced hypertension syndrome].

OBJECTIVE: To study the risk factors of pregnancy-induced hypertension syndrome (PIH) and their interactions and to develop measures to prevent PIH and related obstetrical complications. METHODS: Of 3205 pregnant women, 219 cases were found to have PIH. Data were gathered through questionnaires and measurement. Non-conditional logistic regression was used to identify the risk factors of PIH. RESULTS: Single-factor logistic showed that age and family income were related to PIH. When family had history of hypertension, an increased incidence was seen. Parity and history of natural abortion increased the incidence of PIH. The risk for PIH increased significantly with factors related to heavier weight during pregnancy. Multi-factors non-conditional logistic regression showed that age (OR = 1.801, 95% CI: 1.106 - 2.934), number of natural abortion (OR = 8.955, 95% CI: 4.118 - 19.427), family history of hypertension (OR = 8.955, 95% CI: 4.118 - 19.427), weight during pregnancy (OR = 3.062, 95% CI: 1.619 - 5.905) were related to the risks of PIH. CONCLUSION: It is necessary to strengthen screening program when women with advanced age, family history of hypertension, the numbers of natural abortion, weight of pregnancy in the PIH prevention strategy.

Abortion, Spontaneous↗

PubMed1977

Experience with a microscopic screening program for sputum specimens.

Microscopic examination of almost 2,000 sputum specimens was performed over a 3 1/2-month period. The specimens were categorized into 6 groups based on numbers of leukocytes (PMN's) and squamous epithelial cells (SEC's) observed at low magnification (X 100). Bacteriologic evaluation of specimens consisted of identification and antimicrobial susceptibility tests of potential pathogens when growth was equal or predominant to the growth of oropharyngeal flora. Specimens containing greater than 25 PMN's and less than 25 SEC's had potential pathogens identified in 51% of the samples. Specimen containing greater than 25 SEC's and any number of PMN's showed a rate on only 19%. Specimens containing less than 25 PMN's and SEC's had a rate of 13%. Since initiating the screening program in which sputum specimens containing greater than 25 SEC's were unacceptable for culture, the per cent of acceptable specimens received by the laboratory nearly doubled.

Bacteria↗

PubMed1990

Prevalence of psychiatric disorders in a mandatory screening program for infection with human immunodeficiency virus: a pilot study.

Ninety-five randomly selected human immunodeficiency virus (HIV)-seropositive Air Force personnel were psychiatrically examined during a routine medical evaluation. Of the 95, 95% did not have acquired immunodeficiency syndrome and were largely asymptomatic; 61.1% had clinical axis I diagnoses, which included simple phobia, adjustment disorders, hypoactive sexual desire disorder, alcohol use disorder, major depression, and organic mental disorders; 30.5% had personality disorders. Significantly higher frequencies (p less than 0.05) of simple phobia and hypoactive sexual desire disorder were noted with knowledge of HIV seropositivity. Disorders that occurred more commonly than in age-matched Epidemiologic Catchment Area (ECA) participants included: simple phobia, antisocial personality disorder, alcohol abuse, and organic mental disorders. The high prevalence of major psychiatric illness in this sample supports the notion that screening for psychiatric illness, and counseling where indicated, should be integral to HIV screening programs.

Acquired Immunodeficiency Syndrome↗

PubMed1994

Colorectal cancer incidence in pattern and model makers: evidence from a screening program.

This study is designed to evaluate the efficacy of colorectal cancer screening in a high risk population of pattern and model makers. The cohort of 1,641 white male automotive pattern and model makers was identified in 1981, and offered colorectal cancer screening. The program involved periodic 60 cm flexible sigmoid examination, stool occult blood testing, and digital rectal examination. Screening was offered in 1981, 1982, 1985, 1988, and 1991. Approximately 60% of those eligible participated in at least one screening examination. Nonparticipants showed a relative risk for incident colorectal cancer of over 10, compared to those who participated at least once in the screening. Cohort tracking has accumulated 10 years; results suggest a benefit to colorectal cancer screening in this population.

Adult↗

PubMed1983

Creatine-kinase (CK) and pyruvate-kinase (PK) activities in cord blood of normal newborn infants: application to Duchenne muscular dystrophy screening programs.

Creatine-kinase (CK) and pyruvate-kinase (PK) were determined in cord blood samples from 125 normal newborn infants in order 1) to investigate the correlation between CK and PK, 2) to evaluate a possible influence of the mode of delivery (cesarean section versus vaginal delivery) and birth weight on enzyme activity, 3) to establish normal values for both sexes. In the present investigation, the enzyme activities of cord blood were significantly higher than in the normal adult, and no correlation was observed between enzyme activity and mode of delivery or birthweight. Although there was an apparent and significant correlation (r = 0.5) between CK and PK levels in cord blood samples, in no case did we find both high CK and PK values, something that would suggest preclinical DMD or a false-positive result. These results have led us to suggest determination of serum PK activity in male newborn screening programs. This would allow an early discrimination between false-positives and clinical cases already in the neonatal period. Furthermore, the concomitant use of PK and CK in boys not walking by 18 months could be a useful test for diagnosing preclinical DMD boys.

Birth Weight↗

PubMed1988

[21 years "Austrian Program for Early Detection of Congenital Metabolic Abnormalities." Did the screening programs also contribute scientific knowledge?].

Before the introduction of the programme for the early detection of inborn errors of metabolism the discovery of the biochemical abnormality was merely the proof of a diagnoses based on characteristic features. Neonatal screening inverted the process and the biochemical anomaly became primary marker and symptoms were prevented by treatment. In reality, the subsequent development of symptoms was uncertain. In this way a great number of hitherto unknown metabolic anomalies was discovered. Screening methods for the first time allowed correct determination of the incidence of inherited disorders in different population. Important differences were uncovered intra- and internationally. Screening centres performing psychometry not only in homozygote patients, but also in heterozygote parents found that the heterozygotes for phenylketonuria (PKU) in spite of normal blood phenylalanine levels, are slightly subnormal intellectually. This is true also for early- and satisfactory-treated homozygotes. Increased intracellular phenylalanine concentrations in both could explain this slight intellectual subnormality which is, apparently, independent of the blood level. At least three treatment centres observed a decrease in IQ of 9 to 13 points between 1 and 8 years of age in early- and well-treated PKU patients being mostly still in the normal range. The IQ curves are parallel for these tree centres and independent of the age of diet discontinuation.

Austria↗

PubMed2000

Findings from 752,081 clinical breast examinations reported to a national screening program from 1995 through 1998.

BACKGROUND AND METHODS: Mammography programs have received extensive study, but little is known about the outcome of clinical breast examinations (CBEs) performed in community settings. Consequently, we analyzed data from the National Breast and Cervical Cancer Early Detection Program on CBEs provided to low-income women from 1995 through 1998 and determined the percentage of CBEs considered to be abnormal, suspicious for cancer; the rates of cancer detection; and the sensitivity, specificity, and positive predictive value of CBEs. RESULTS: We analyzed data from 752081 CBEs and found that 6.9% of all CBEs were coded abnormal, suspicious for cancer, and that 5.0 cancers were detected per 1000 examinations (95% confidence interval [CI] = 4.9-5.2). The values observed for sensitivity (58.8%) and specificity (93.4%) were comparable to those reported for the CBE component of clinical trials. The observed positive predictive value was 4.3%. About 74% of all records also reported mammography results. The cancer-detection rate among records reporting an abnormal CBE and normal mammography was 7.4 cancers per 1000 records (95% CI = 6. 3-8.4). When the CBE was normal but the mammography was abnormal, the rate was 42.0 cancers per 1000 records (95% CI = 39.9-44.1). When both CBE and mammography results were abnormal, the rate was 170.3 cancers per 1000 records (95% CI = 162.7-177.9). Cancer detection could not be attributed entirely to CBE or mammography on 38% of the records in the latter subset because the tests were performed on the same day. CONCLUSION: CBEs performed in community-based screening programs can detect breast cancers as effectively as CBEs performed in clinical trials and may modestly improve early-detection campaigns.

Adult↗

PubMed2000

Long-term prospective study on the natural history of Wolff-Parkinson-White syndrome detected during a heart screening program at school.

UNLABELLED: In the period 1985 to 1993, a total of 802 school-aged children (284 first-graders and 518 seventh-graders) were referred to our hospital for further evaluation of electrocardiographic abnormalities. Among them, 57 (male 24 and female 33) children were confirmed as having Wolff-Parkinson-White (WPW) syndrome based on the findings of 12-lead surface electrocardiograms (ECG). According to Lindsay's criteria, the locations of the accessory pathways were as follows: Left-lateral in 10 (18%), left-posterior in 2 (4%), right-free-wall in 28 (49%), anterior-septum in 13 (23%) and posterior-septum in 3 (5%). One 12-y-old girl had multiple accessory pathways. Six patients had associated diseases: Ebstein's anomaly in 4, epilepsy in 1 and mental retardation with scoliosis in 1. Follow-up periods ranged from 2.0 to 13.0 y (mean +/- SD: 8.0 +/- 3.3 y) for 23 first-graders with WPW syndrome, and from 2.0 to 13.0y (mean +/- SD: 7.3 +/- 4.2y) for 34 seventh-graders, respectively. Initially, 5 children had at least one episode of supraventricular tachycardia (SVT) by history and 6 children developed SVT during the follow-up. One girl with multiple accessory pathways and recurrent SVT required long-term drug therapy. CONCLUSIONS: The outcome of children with WPW syndrome detected by a heart screening program at school was favorable. Our 8 y follow-up of 57 children with WPW syndrome will serve as additional information concerning the indication of radio-frequency catheter ablation therapy for WPW syndrome in children.

Adolescent↗

PubMedDate not supplied

Location and age at onset of colorectal cancer in Hungarian patients between 1993 and 2004. The high number of advanced cases supports the need for a colorectal cancer screening program in Hungary.

BACKGROUND: In recent decades, the incidence of proximal colorectal cancer (CRC) in North America and Western Europe has steadily increased, while that of the distal tumors has shown a corresponding decrease. Our aim was to investigate the change in age at diagnosis, the gender, location and cancer stage of CRC cases over the last 12 years in a large number of Hungarian patients. PATIENTS AND METHODS: The clinical and histological data of 1694 CRC patients (M/F: 917/777, age at diagnosis: 65.2 +/- SD 12.5 years), diagnosed at the First Department of Medicine and the First Department of Surgery of Semmelweis University, Budapest, Hungary, between January 1, 1993 and December 31, 2004, were analyzed retrospectively. RESULTS: CRCs were rectal or left-sided in 70% and proximal (transverse, ascending or cecum) in 30% of the cases. The proportion of rectal carcinomas increased over the observed period (1993-1998: 31.6% vs. 1999-2004: 42.1%, p=0.001), while the proportion of proximal tumors remained stable. Eleven percent of CRCs were diagnosed under the age of 50 years. The age at diagnosis did not differ between males and females, but was lower in patients with rectal tumors compared to other localizations (p=0.02); 75.7% of the CRCs were T3-T4 at diagnosis and lymph node metastases could be detected in 47.7%. CONCLUSION: In contrast to Western European and North American trends, the proportion of proximal CRCs did not increase in Hungary over the observed period. Almost two-thirds of all cancers were left-sided. The high percentage of locally advanced tumors and lymph node metastases supports the need for colorectal screening programs.

Adult↗

PubMed1992

Potential usefulness of computerized nodule detection in screening programs for lung cancer.

RATIONALE AND OBJECTIVE: To alert radiologists to possible nodule locations and subsequently to reduce the number of false-negative diagnoses, the authors are developing a computer-aided diagnostic (CAD) scheme for the detection of lung nodules in digital chest images. METHODS: A computer-vision scheme was applied to photofluorographic films obtained in a mass survey for detection of asymptomatic lung cancer in Japan. Ninety-five patients with abnormal test results who had primary and metastatic lung cancers and 103 patients with normal test results were included. RESULTS: The sensitivity of the computer output was comparable with that of physicians in this mass survey (62%). The computer detected approximately 40% of all nodules missed in the mass survey, but missed 17 true-positive results identified in the mass survey. The CAD scheme produced an average of 15 false-positive findings per image. CONCLUSION: If the number of false-positive results can be significantly reduced, computer-vision schemes such as this may have a role in lung cancer screening programs.

False Positive Reactions↗

PubMed2004

Clinical, demographic, and psychological characteristics of new, asymptomatic participants in a transvaginal ultrasound screening program for ovarian cancer.

BACKGROUND: Attitudinal, mood, and personality variables have been identified as predictors of uptake of routine screening for a variety of cancers, including those of the breast, cervix, and colon. Little information exists, however, regarding characteristics of participants in ovarian cancer (OC) screening. METHOD: Asymptomatic women (n = 312; mean age = 57.45 years; range = 26-80) were assessed immediately before undergoing an initial transvaginal sonography (TVS) screening test for ovarian cancer (OCS group). Their responses were compared to identical information obtained from an age- and education-matched group of women with no history of screening for OC (HC group). All respondents completed measures of OC-related attitudes, knowledge, beliefs and risk perceptions, dispositional characteristics (informational coping style and dispositional optimism), and psychological distress. RESULTS: Analyses revealed the OCS group was characterized not only by more OC-specific distress and a more extensive family history of OC but also by less optimism and less knowledge of OC risk factors. Group membership was unrelated to beliefs about the efficacy of TVS screening. CONCLUSION: Results have implications for development of programs to increase appropriate participation in OC screening programs.

Adult↗

PubMed2001

Some issues relevant to establishing a universal newborn hearing screening program.

This article describes some of the factors relevant to the establishment of a universal newborn hearing screening (UNHS) program. First, the difficulty in providing precise estimates of test sensitivity and specificity are reviewed. This section is followed by hypothetical estimates of overall programmatic costs, first for a fixed number of babies to be screened and then as a function of the number of babies to be screened in a year. Included in these estimates are the costs for equipment, disposables, personnel, and follow-up testing. These estimates are provided for three different screening protocols: auditory brainstem response (ABR) alone, otoacoustic emission (OAE) alone, and OAE followed by ABR only for those babies who failed the OAE screening. If follow-up costs are not included, it is less expensive to screen newborns with OAEs compared with the other two protocols. However, once follow-up testing is included as part of the program costs and there are at least 400 births per year, procedures in which OAEs are performed first, followed by an ABR on those infants who do not pass the OAE test, result in the lowest costs. Hospitals with as few as 400 births per year should expect per-baby costs not exceeding $30, regardless of which protocol is used. For all three protocols, the unit costs decrease as the number of babies screened increases. The final section describes data from a local UNHS program in which all infants are screened first with an OAE test, followed by an ABR test on infants not passing the OAE screening. Idiosyncratic features to this program are described, including the fact that all screening tests are performed by audiologists, who are paid on a part-time basis, adding cost to the program. Even under these circumstances, the unit cost is under $30. These data lead us to conclude that all infants can be screened in a cost-effective manner.

Cost-Benefit Analysis↗

PubMed1987

State preadmission screening programs for controlling utilization of long-term care.

This article explores the issue o whether state-administered nursing home preadmission screening (PAS) programs are an effective means of controlling the utilization of long-term care. It is suggested that, overall, PAS may be increasing rather than decreasing the use of long-term care. Utilization control through PAS may be ineffective because it occurs too late in the placement decision process, there are insufficient placement alternatives, assessment tools do not adequately identify who is at risk of institutionalization, and policymakers and program administrators may have conflicting goals. Recommendations for improving the screening process include, among others, that States more clearly define program goals and that screening be conducted within a managed-care system.

Cost Control↗

PubMed2005

Challenges in implementing a successful newborn cystic fibrosis screening program.

OBJECTIVE: To identify necessary components of a successful cystic fibrosis (CF) newborn screening (NBS) program. STUDY DESIGN: The approach to CF NBS used by the Massachusetts NBS program was examined. RESULTS: Several key components were identified that should be addressed when a state has made the decision to screen, and well in advance of actual implementation. These components include (1) inclusion of CF center directors in the development process; (2) logistics of choosing a screening algorithm relative to practices in place and community wishes; (3) projections of medical service needs from specific algorithms; (4) identification of critical reporting components; (5) identification of critical follow-up components; and (6) recognition of educational needs. CONCLUSIONS: Careful examination of a wide variety of issues is needed to ensure optimal implementation of NBS for CF.

Aftercare↗

PubMed1994

Managing hypertension among veterans in an outpatient screening program.

This report describes the outcomes of a hypertension screening and management program in an outpatient clinic for veterans (pharmacologic/nonpharmacologic subjects, N = 207) located in the Southeastern United States using a retrospective descriptive research approach. Health care was provided in the clinic by nurse practitioners and physicians in conjunction with classes that emphasize lifestyle changes. Weight was a major risk factor on admission and at subsequent visits. Quetelet Index values indicated pharmacologic patients were significantly more overweight (> 30% over ideal weight) than nonpharmacologic patients (> 20% over ideal weight). Significant reductions in blood pressure were obtained for both groups between admission readings and readings taken at 12 and 24 months (p = .0001). No significant differences in blood pressure were noted between the nonpharmacologic and pharmacologic groups. Reported lifestyle behavior changes incorporating exercise from first to last visit were more significant for the nonpharmacologic group; however, this group also reported increased alcohol consumption during this time. The pharmacologic group reported overall beneficial improvement in both exercise and decreased use of alcohol. The nonpharmacologic group on average required fewer clinic visits. Interventions targeted toward lifestyle behaviors, a common element in the treatment plans for both groups, appear to have therapeutic benefit.

Adult↗

PubMed1977

Range of frontal plane QRS axes. Electrocardiograms of subjects in a multiphasic screening program.

The range of mean QRS axes in the frontal plane was determined in electrocardiograms of subjects examined in a program of periodic health screening. Fifty-three of 5,163 individuals had a mean frontal QRS axis between -30 degrees and -60 degrees. Fourteen individuals had an axis between +110 degrees and +133 degrees. These findings suggest that individuals with no history of heart disease may manifest a considerable range of frontal plane QRS axes often to a degree previously considered abnormal. The axes were calculated by the use of leads 1 and 3. Other leads, or the use of the method of Grant, would give different results. Comparison of series of patients can be made only if these variables are understood.

Adolescent↗

PubMed2005

[The attendance of the first screening round (2002-2003) of the Hungarian organized breast cancer screening program and its effect on the number of diagnostic and screening mammography].

AIM: Organised, nationwide screening for breast cancer with mammography in the age group 45-65 years with 2 years screening interval started in Hungary in January 2002. The aim of this study is to analyze the attendance rate of breast screening programme, including the analysis of the ratio of screening and diagnostic mammography examinations. DATA AND METHODS: The data derive from the financial database of the National Health Insurance Fund Administration (NHIFA) covering the period 2000-2003. The ratio of women was calculated in the age group 45-65 years having either a screening mammography or a diagnostic mammography. The analysis was carried out for the years 2000-2001 (mainly opportunistic screening) before and 2002-2003 after the implementation of nationwide organized programme. RESULTS: In the years 2000-2001 7,26% of the women aged 45-65 had an opportunistic screening mammography while in 2002-2003 33,95% of the target population had screening mammography within the organized programme. During the same periods 19,67% (2000-2001) and 22,05% (2002-2003) of women aged 45-65 had a diagnostic mammography. Thus the total (screening and diagnostic) coverage of mammography increased from 25,85% (2000-2001) to 53,46% (2002-2003). CONCLUSIONS: The attendance of the Hungarian organized breast cancer screening programme - compared to the previous period before the implementation of the organized screening programme - is promising, although to achieve the expected results in mortality decrease a further improvement of the uptake is necessary.

Breast Neoplasms↗