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Hereditary haemochromatosis (HH) is an inherited disorder of iron absorption. It meets several of the key public health principles for population-based screening and is considered to be a test-case for public health genetics. However, there has been relatively little debate in the public health or wider community regarding the merits of population-based genetic screening for HH. Genetic susceptibility to HH occurs in about 1:200 people and although mortality is low (age-standardised rate 2.75/million), there are potentially serious clinical manifestations of iron overload. Regular venesection is a simple and effective treatment for early stage iron overload. DNA-based testing is available and iron overload may be identified using serum transferrin saturation and ferritin tests. However, there are important gaps in knowledge relevant to screening for HH. The limited data on penetrance of HFE genotypes, and thus the uncertain probability that genetically susceptible individuals will develop clinically significant disease, is a major impediment to population-based genetic screening. Clinical evidence supports treating early-stage disease but no randomised controlled trials of the effectiveness of screening in reducing the burden of disease have been conducted. In addition, the natural history of early stages of HH and factors that may modify progression are unclear. Two international consensus panels on HH concluded that there is insufficient evidence for population-based screening at present. We present recommendations to advance the debate on screening for HH in Australia.

Oral cancer screenings can not only detect mouth cancer in people at high risk but can also educate them about the risk factors for mouth cancer. During a three-day oral screening program in New York and New Jersey, many of the 803 people screened knew that smoking was a risk factor for mouth cancer but they were unaware that alcohol use is also a risk factor.

Testing all pregnant women for group B streptococcal infection will prevent more streptococcal infections in their babies than a risk-based approach, according to a study of 629,912 live births. This is the so-called screening approach, whereas the risk-based approach tries to predict which women might be infected based on their risk factors.

Testing all one-year-old children for neuroblastoma may not reduce the mortality rate from this type of cancer, according to researchers who tested 2,581,188 children and compared their outcome to 2,117,600 children who were not tested. The test measures the amount of catecholamines in urine.

Screening all newborn babies for neuroblastoma does not appear to lower mortality rates, according to a study of 476,654 newborn children in Quebec, Canada, who were tested between 1989 and 1994. The test measures the amount of catecholamines in the urine.

Arch Dis Child 2002;86:245-250 Aims: To determine whether a two tier universal infant hearing screening programme (population based risk factor ascertainment and universal distraction testing) lowered median age of diagnosis […]

Population-based surveillance for unexplained death and critical illness possibly due to infectious causes (UNEX) was conducted in four U.S. Emerging Infections Program sites (population 7.7 million) from May 1, 1995, [...]

This article discusses the usefulness of an effective screening protocol for an early detection of prostate cancer in men older than 50 with a >10-year life expectancy. Digital rectal examination combined with the measurement of serum prostate-specific antigen (PSA) levels and percent free PSA are reliable indicators of the prostate cancer.

Aims: In order to evaluate the efficacy of a school urinary screening programme, children with membranoproliferative glomerulonephritis (MPGN) type 1 were studied. Methods: A total of 52 patients who had [...]

Metabolic diseases arise from inherited defects in enzymes involved in the production of energy a process that is essential for the wellbeing of cells in every organ of a healthy [...]

Objective. To evaluate whether congenital adrenal hyperplasia (CAH) patients can be detected by newborn screening before the occurrence of life-threatening salt wasting and whether the prevalence, specificity, and sensitivity are adequate enough for a routine screening procedure. Design. From 1998, a 2-year regional pilot screening for CAH was performed. In 1998, cutoff levels for 17OHP were primarily based on birth weight, and in 1999 on gestational age. In addition, nationwide, all newly diagnosed patients with CAH were reported to the Dutch Pediatric Surveillance Unit to compare screened CAH patients with CAH patients in the area without screening. Results. In 2 years, 176 684 newborns were screened and 15 CAH patients (7 males/8 females) were detected. Therapy was started at the median age of 7 days. In the area without screening, 223 307 infants were born and 19 CAH patients (10 males/9 females) were reported to the Dutch Pediatric Surveillance Unit. Therapy was started at the median age of 14 days. The mean (standard deviation) serum sodium concentration was 134.5 (3.4) mmol/L in the area of screening versus 124.5 (10.8) mmol/L in the area without screening. The overall prevalence was 1:11 764. In 1998 and 1999, the specificity was 99.76% and 99.97%, respectively. The positive predictive value was 4.5% and 16%, respectively. To date, no false-negative cases have been detected. Conclusion. Severe salt wasting can be prevented by neonatal screening. The prevalence, specificity, and sensitivity allowed addition of screening for CAH to the routinely performed national neonatal screening program. Pediatrics 2001;108:1320-1324; congenital adrenal hyperplasia, costs, neonatal screening, specificity, sensitivity, cutoff levels., ABBREVIATIONS. CAH, congenital adrenal hyperplasia; 17OHP, 17-hydroxyprogesterone; SW, salt-wasting; NSW, nonsalt-wasting; DPSU, Dutch Pediatric Surveillance Unit; PPV, positive predictive value. Congenital adrenal hyperplasia (CAH) is, in >90% of the patients, [...]

A one-time fecal blood test and sigmoidoscopy may not detect colorectal cancer in some patients. In a study of 2,885 patients between 50 and 75 years old, this screening technique only identified 76% of the patients who had colorectal cancer. Sigmoidoscopy uses a flexible tube with a small camera at the end to examine the large intestine.

Byline: J. A. Kanis (1), A. Dawson (2), A. Oden (3), O. Johnell (4), C. de Laet (5), B. Jonsson (6) Keywords: Key words:Cost-effectiveness -- Global strategy -- Hip fracture -- Screening Abstract: The aims of this study were to determine whether treatments that reduce the incidence of hip fracture might be used in the general female population rather than screening or case-finding strategies. Cost-effectiveness, measured as cost per quality-adjusted life-year (QALY) gained using threshold values for cost-effectiveness of $20.000 or $30.000/QALY gained, was assessed during and after treatment using a computer simulation model applied to the female population of Sweden. The base case assumed a 5-year intervention that reduced the risk of hip fracture by 35% during the treatment period, and an effect that reversed to the pretreatment risk during the next 5 years. Sensitivity analyses included the effects of age, different treatment costs and effectiveness. Cost-effectiveness was critically dependent upon the age and costs of intervention. Reasonable cost-effectiveness was shown even with relatively high intervention costs for women at average risk at the age of 84 years or more. For the cheapest interventions ($63/year) cost-effectiveness could be found from the age of 53 years. Variations in effectiveness (15--50% risk reduction) had marked effects on the age that treatment was worthwhile. We conclude that segments of the apparently healthy population could be advantaged by treatment if efficacy were supported by randomized controlled studies. Author Affiliation: (1) Centre for Metabolic Bone Diseases (WHO Collaborating Centre), University of Sheffield Medical School, Sheffield, UK, GB (2) Lilly Research Centre, Windlesham, Surrey, UK, GB (3) Solberg 8414, S-442 92 Romelanda, Sweden, SE (4) Department of Orthopaedics, MalmoA' General Hospital, Sweden, SE (5) Institute for Medical Technology Assessment, The Netherlands , NL (6) Department of Economics, Stockholm School of Economics, Stockholm, Sweden, SE Article note: Received: May 2000 / Accepted: November 2000

Chemical dependence, including nicotine, alcohol, prescription drugs, and illicit drugs, is one of the leading causes of morbidity and mortality in the United States. Primary care physicians and nurses routinely provide preventive health care and rely on routine screening to detect diseases and promote wellness. These primary care practitioners are in a unique position to assess and detect such dependence at its earliest stages. However, previous research indicates that little such screening is actually conducted. This literature review gathered and examined substance use screening instruments in four categories to assess their feasibility for use in primary care settings. Although substance use screening tools are available, most are not appropriate for screening in a primary care setting. There clearly remains a need for the development of a valid, reliable screening instrument that can be easily incorporated into the practices and procedures found in primary care settings.

A cutoff level of 1milligram (mg) of methionine per deciliter of blood appears to be more effective in identifying newborn babies who have homocystinuria. This metabolic disorder is caused by an enzyme deficiency that causes elevated blood levels of homocysteine and methionine. If the disease is diagnosed early, it can be treated, sparing the baby from severe brain damage. In 1990, the cutoff level for screening newborn babies was lowered from 2 mg per deciliter to 1 mg per deciliter. Of the seven babies identified since then, five had methionine levels below 2 mg per deciliter and would not have been detected using the old cutoff level.

The risks of screening first-degree relatives of patients with ruptured intracranial aneurysms appear to outweigh the benefits. Intracranial aneurysms are a weakening in the wall of an artery in the brain, which can rupture and cause bleeding in the brain. Researchers screened 626 first-degree relatives of 160 patients with a ruptured intracranial aneurysm. Twenty-five (4%) had an aneurysm and 18 had surgery to correct it. However, 11 people experienced a complication from the surgery, including vision disorders, headache, fatigue, impaired concentration, and emotional problems. Life expectancy increased an average of 2.5 years but the procedure caused 19 years of disability per person on average.

The HIV Dementia Scale (HDS) and the Executive Interview (EXIT) appear to be effective as a quick screening tool to identify HIV patients who have dementia. HDS takes about 10 minutes to do and EXIT takes about 15 minutes.

The authors evaluate community health services provided to Australian aborigine children. Topics include levels of diseases, hearing screening, and visual acuity.

Preparticipation screening of athletes may lower their risk of dying from hypertrophic cardiomyopathy. This heart disease can cause sudden death in young people. Italian researchers analyzed the sudden death rate in athletes and non-athletes between 1979 and 1996 and also followed 33,735 athletes who had been screened. Italy passed a law in 1971 requiring annual exams for athletes. Of 269 sudden deaths between 1979 and 1996, only 49 occurred in athletes. Two percent of the athletes died from hypertrophic cardiomyopathy versus 7% of the non-athletes. Only 0.07% of the 33,735 athletes had to be disqualified due to hypertrophic cardiomyopathy and none died.

Coronary heart disease is the leading cause of death in the United States.[1] Lowering elevated total cholesterol and low-density lipoprotein (LDL) levels can reduce the risk and progression of coronary […]

The Centers for Disease Control and Prevention have prepared new guidelines for screening children for lead poisoning, published in Screening Young Children For Lead Poisoning: Guidance For State And Local […]

There has been considerable focus in the medical and public health literature on barriers to breast cancer screening and on the design and evaluation of strategies to reduce these barriers. […]

CHILDHOOD LEAD POISONING is a major preventable environmental health problem in the United States. Since the mid-1970s, there has been major progress in eliminating or reducing lead in gasoline, food […]