Mass Screening Test Research Articles

Clinical observations of late infantile and juvenile forms of Niemann – Pick disease type C

A clinical description and analysis of cases of Niemann – Pick disease type C in two children are presented. The difficulty of the diagnosis is due to the polymorphism of clinical manifestations, variability in the age of manifestation, rarity of the disease in the population, and the lack of a simple diagnostic test for mass screening. Isolated hepatosplenomegaly was revealed in the juvenile and late infantile form of Niemann-Pick disease type C. Neurological symptoms are manifested by a gradual decrease in cognitive function, gelastic cataplexy, epileptic seizures, and extrapyramidal disorders. The possibility of clarifying the diagnosis in the presented cases occurs from ages 4 – 7 due to the DNA diagnosis of NPC1 and NPC2 gene mutations.

A cross sectional study evaluating screening using maternal anthropometric measurements for outcomes of childbirth in Ugandan mothers at term.

BackgroundBirth related newborn and maternal mortality/morbidity remains high in most of sub-Saharan Africa compared to the rest of the world. In this low income region there is a need for valid, low cost, easy to use mass screening tests. This study looked at the screening value of maternal: height, weight and pelvis height, for assessing the outcomes of parturition in Ugandan mothers at term.MethodsThis was a multi site cross-sectional study on mothers with singleton pregnancies in labour at various hospitals in different parts of Uganda. A summary of the details of the pregnancy, maternal height, weight and the delivery record were captured and analysed to generate descriptive and inferential (multilevel logistic regression analysis) and diagnostic (Receiver Operator Curve analysis) statistics.ResultsWe recruited 1146 mothers from all the study sites during the study period of whom 987 (86.13%) had normal deliveries and healthy babies. Mothers with adverse outcomes included 107 mothers that had caesarean section and 52 mothers who had vaginal deliveries with foetal Apgar score of ≤7 at 5 min of whom 11 had fresh still births. Maternal height (Adj OR 0.97, 95% CI 0.94–1.00) and maternal pelvis height (Adj OR 0.73, 95% CI 0.61–0.86) were significantly associated with adverse pregnancy outcomes. The combination of maternal: height (<150 cm), weight (>55.7 kg) and pelvis height (>8.95 cm) had the best diagnostic value with a combined area under the curve of 0.60.ConclusionsIt was observed that an increase in either maternal pelvis height or maternal height was associated with a significant reduction in adverse pregnancy outcomes. The cut off values of all three evaluated maternal anthropometric measurements were of low test accuracy as screening tests even when used together. Further research is needed to develop low cost screening tools for use in low income settings.

Evaluación de la citología cervicovaginal y la colposcopia, como método de detección de la neoplasia intraepitelial cervical

OBJETIVO: Evaluar la especificidad, sensibilidad y valor predictivo positivo de las pruebas de detección de la neoplasia intraepitelial cervical (NIC) - citología cervicovaginal y colposcopia . compar´sndolas con el diagnóstico final, dado por la Anatomía Patológica. DISEÑO: Investigación observacional, retrospectiva. LUGAR: Departamento de Ginecología y Obstetricia, Hospital Regional Docente de Trujillo, enero 1994 a abril 1997. MATERIAL Y MÉTODS: Revisión de las historias clínicas del archivo del Hospital de 109 casos de citología positiva y 107 casos de colposcopia que tuvieron estudio histopatológico. RESULTADOS: La citología cervicovaginal, presenta especifidad de 50% y sensibilidad 80%, con una proporción de falsos positivos de 50% y falsos negativos 20%. La colposcopia presenta sensibilidad de 79%, especifidad 25%, con una proporción de falsos positivos de 75% y falsos negativos 21%. Los valores predictivos positivos para citología y colposcopia fueron 58% y 46% respectivamente. CONCLUSIONES: La citología cervicovaginal mostró poco valor como prueba altamente específica para detección masiva de NIC, mientras la colposcopia presenta una adecuada sensibilidad; no se puede establecer la confiabilidad cuando se complementa la citología con la colposcopia.

Sensitivity and specificity of CT colonography for the detection of colonic neoplasia after positive faecal occult blood testing: systematic review and meta-analysis

CT colonography (CTC) is recommended after positive faecal occult blood testing (FOBt) when colonoscopy is incomplete or infeasible. We aimed to estimate the sensitivity and specificity of CTC for colorectal cancer and adenomatous polyps following positive FOBt via systematic review. The MEDLINE, EMBASE, AMED and Cochrane Library databases were searched for CTC studies reporting sensitivity and specificity for colorectal cancer and adenomatous polyps. Included subjects had tested FOBt-positive by guaiac or immunochemical methods. Per-patient detection rates were summarized via forest plots. Meta-analysis of sensitivity and specificity was conducted using a bivariate random effects model and the average operating point calculated. Of 538 articles considered, 5 met inclusion criteria, describing results from 622 patients. Research study quality was good. CTC had a high per-patient average sensitivity of 88.8 % (95 % CI 83.6 to 92.5 %) for ≥6 mm adenomas or colorectal cancer, with low between-study heterogeneity. Specificity was both more heterogeneous and lower, at an average of 75.4 % (95 % CI 58.6 to 86.8 %). Few studies have investigated CTC in FOBt-positive individuals. CTC is sensitive at a ≥6 mm threshold but specificity is lower and variable. Despite the limited data, these results suggest that CTC may adequately substitute for colonoscopy when the latter is undesirable. • FOBt is the most common mass screening test for colorectal cancer. • Few studies evaluate CT colonography after positive FOBt. • CTC is approximately 89 % sensitive for ≥6 mm adenomas/cancer in this setting. • Specificity is lower, at approximately 75 %, and more variable. • CT colonography is a good alternative when colonoscopy is undesirable.

Budget impact analysis of chronic kidney disease mass screening test in Japan

BackgroundOur recently published cost-effectiveness study on chronic kidney disease mass screening test in Japan evaluated the use of dipstick test, serum creatinine (Cr) assay or both in specific health checkup (SHC). Mandating the use of serum Cr assay additionally, or the continuation of current policy mandating dipstick test only was found cost-effective. This study aims to examine the affordability of previously suggested reforms.MethodsBudget impact analysis was conducted assuming the economic model would be good for 15 years and applying a population projection. Costs expended by social insurers without discounting were counted as budgets.ResultsAnnual budget impacts of mass screening compared with do-nothing scenario were calculated as ¥79–¥−1,067 million for dipstick test only, ¥2,505–¥9,235 million for serum Cr assay only and ¥2,517–¥9,251 million for the use of both during a 15-year period. Annual budget impacts associated with the reforms were calculated as ¥975–¥4,129 million for mandating serum Cr assay in addition to the currently used mandatory dipstick test, and ¥963–¥4,113 million for mandating serum Cr assay only and abandoning dipstick test.ConclusionsEstimated values associated with the reform from ¥963–¥4,129 million per year over 15 years are considerable amounts of money under limited resources. The most impressive finding of this study is the decreasing additional expenditures in dipstick test only scenario. This suggests that current policy which mandates dipstick test only would contain medical care expenditure.

Uniparental disomy of chromosome 8 leading to homozygosity of a &lt;i&gt;CYP11B1&lt;/i&gt; mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that usually results from paternally and maternally transmitted mutations in genes for steroidogenic enzymes. Recent studies on steroid 21-hydroxylase deficiency, the most common form of CAH, have revealed that a small percentage of patients have a non-carrier parent; uniparental disomy (UPD) and de novo mutations were reported as disease-causing mechanisms in these patients. However, it remains unknown whether UPD and de novo mutations underlie other forms of CAH. Here, we report a male patient with steroid 11β-hydroxylase deficiency (11OHD) born to a non-carrier mother. The patient was identified by an elevated 17-hydroxyprogesterone level at a neonatal mass-screening test. His clinical features were comparable to those of previously reported patients with 11OHD. Direct sequencing of CYP11B1 identified a homozygous IVS7+1G>A mutation in the patient, which was not shared by his mother. Comparative genomic hybridization of the patient detected UPD of chromosome 8 [UPD(8)]. Microsatellite analysis indicated non-maternal origin of the UPD(8) and confirmed parentage of other chromosomes. This study shows for the first time that 11OHD can be caused by UPD in the presence of a non-carrier parent. Awareness of such rare cases should improve the accuracy of genetic counseling for families with CAH. Our data support the importance of UPD as an underlying mechanism of autosomal recessive disorders.

Evaluation of Immunochromatography test and Quantitative buffy coat against peripheral blood smear examination in diagnosis of malaria

Background: In spite of enormous preventive and control measures, malaria has resurged in many tropical countries including India. The limited access to effective diagnosis and treatment of cases in endemic areas is one of the most important factors hampering the reduction of morbidity and mortality associated with malaria. Aims and objective: The present study was conducted with an aim to evaluate immunochromatography test (ICT) and quantitative buffy coat (QBC) against peripheral blood smear (PBS) examination for diagnosis of malaria. Material and methods: Blood samples collected from 186 clinically suspected cases of malaria was used for preparation of PBS for examination of malarial parasite, QBC and ICT. Results: Out of 186 patients included in study, 122 (65.5%) of were positive for malaria by any of the three tests used. 116 (95.1%) were positive for malarial parasite on the PBS. ICT was positive in 103 (84.4%) cases and QBC was positive in 70 (57.3%) cases. Conclusions: ICT for malaria can be used as rapid, simple and mass screening test in remote and rural areas as skilled professional are not required. ICT may prove as useful tool for malaria control programmes. In established setup where skilled and expert personnel are available PBS remains the test of choice and ICT can be used as an adjuvant to PBS.

The cost-effectiveness of immunochemical tests for colorectal cancer screening

The optimal immunochemical test to use for generalised mass screening is still under debate in France. To compare the cost and effectiveness in biennial screening for colorectal cancer of fifteen strategies consisting of the three-stool sample un-rehydrated guaiac faecal occult blood test and three immunochemical tests: Magstream, FOB-Gold and OC-Sensor, at different positivity cut-off levels and stool-sample collection. A Markov model was used to compare these strategies in a general population of 100,000 individuals aged 50-74 over a 20-year period. Immunochemical tests were efficient strategies compared with guaiac faecal occult blood test. When all 15 strategies were compared with each other, only five of them remained efficient: the one- and two-stool sample Magstream, the one- and two-stool sample FOB-Gold with the 176 ng/mL cut-off, and the two-stool sample OC-Sensor with the 150 ng/mL cut-off. Sensitivity analyses showed that, at an identical price, the one-stool sample OC-Sensor was the most efficient strategy, and outperformed FOB-Gold. One-stool immunochemical testing can be considered a promising alternative to the guaiac faecal occult blood test for colorectal cancer mass screening in the general population. Competition between manufacturers should now be introduced to reduce purchase price differences.

A mass screening survey of cystic echinococcosis by ultrasonography, Western blotting, and ELISA among university students in Manisa, Turkey

Cystic echinococcosis (CE) is one of the most important zoonotic diseases in a wide geographic area, including Turkey. In the present project, a total of 4275 students from Celal Bayar University, Manisa, Turkey, were screened by ultrasonography (US) and specific antibodies for CE were examined by Western blotting (WB) and ELISA in finger prick blood samples of 2034 of 4275 volunteered students. We aimed to report the apparent prevalence of CE based on different diagnostic procedures and to compare WB and ELISA with US in diagnosis of CE in a mass screening setting. Six new cases were diagnosed as CE by US during the survey. In addition to these cases, three students were also detected to have been previously operated and pathologically confirmed for hepatic CE. US revealed parenchymal changes in these cases in concordance with their operation history; so, the prevalence of CE by US was calculated as 0.21% (9/4275) (95%CI, 0.11–0.39%) among university students in Manisa. Bands were detected at 8, 28, 32, 38, 42, 47, 70 and 90kDa by WB and the cases were considered to be positive for CE when at least three of the bands were seen together. Apparent prevalence of CE by ELISA and WB were found to be 2.11% (43/2034) (95%CI, 1.57–2.83%) and 0.25% (5/2034) (95%CI, 0.10–0.57%), respectively. Of the six US positive cases, WB was positive in only one case with two cysts in the liver. All of four cases with liver involvement were positive by ELISA. The high prevalence of CE among university students in Manisa indicated that CE is a major health problem in this area of Turkey. Our results supported that WB is rather difficult and not feasible as a mass screening test and may not be effective for confirmation especially in asymptomatic cases. As a result, we recommend US to be used initially in mass screening surveys for CE followed by confirmation by ELISA for suspected cases. Further examination primarily by chest X-ray followed by computed tomography and/or magnetic resonance imaging, if needed, should be recommended for US negative, ELISA and WB positive individuals who may have non-abdominal cysts.

The influence of waiting times on cost-effectiveness: a case study of colorectal cancer mass screening

When a cost-effectiveness analysis is implemented, the health-care system is usually assumed to adjust smoothly to the proposed new strategy. However, technological innovations in health care may often induce friction in the organization of care supply, implying the congestion of services and subsequent waiting times. Our objective here is to measure how these short run rigidities can challenge cost-effectiveness recommendations favorable to an innovative mass screening test for colorectal cancer. Using Markov modeling, we compare the standard Guaiac fecal occult blood test (gFOBT) with an innovative screening test for colorectal cancer, namely the immunological fecal occult blood test (iFOBT). Waiting time can occur between a positive screening test and the subsequent confirmation colonoscopy. Five scenarios are considered for iFOBT: no further waiting time compared with gFOBT, twice as much waiting time for a period of 5 or 10 years, and twice as much waiting time for a period of 5 or 10 years combined with a 25% decrease in participation to confirmation colonoscopies. According to our modeling, compared with gFOBT, iFOBT would approximately double colonoscopy demand. Probabilistic sensitivity analysis enables concluding that the waiting time significantly increases the uncertainty surrounding recommendations favorable to iFOBT if it induces a decrease in the adherence rate for confirmation colonoscopy.

The end of the road for prostate specific antigen testing?

Many candidate biomarkers for diagnosis of prostate cancer have been investigated, but prostate-specific antigen (PSA) testing remains the frontline test for both mass screening and individual clinical testing. Although the PSA test is cost-effective, analytically reliable, and flexibly high throughput, it has a very weak correlation with prostate malignancy. This has resulted in over-diagnosis and over-treatment of patients leading to costly economic, social, and psychological impacts. PSA testing lacks the ability to molecularly characterize prostate diseases and define aggressiveness and lethality, which are necessary to influence choice of treatment. Therefore, newer molecular tests are beginning to replace the PSA tests. The prostate cancer antigen 3 test has shown superiority and is now widely used. The recently reported sarcosine urine test, the already delineated TMPRSS2: ETS fusion genes, the glutathione-S-transferase P1 serum marker, and enhancer of zeste homolog 2 biomarker may also help improve diagnosis and prognostication of prostate cancer. The analytical trend is toward a multiplex testing format using molecular and/or proteomic techniques that are reliable, accurate, reproducible, and ensure rapid quantitation. Therefore, validation of these newer biomarkers and their assays are necessary for both large-scale clinical trials and clinical utility.

Sequential Combination of Serum Pyruvate Kinase Isoenzyme M2 and Colonoscopy-A Promising Screening Protocol for Colorectal Cancer Early Diagnosis

Background: Early diagnosis and treatment through mass screening is practical against colorectal cancer (CRC). Low compliance for current screening tests affects the effectiveness of CRC mass screening. An efficient screening protocol with high compliance is needed for CRC mass screening. Methods: Systematic searches were done through Medline and Cochrane Library databases - initial Medline searches were in February 2010 and additional searches in March/April 2010. Search terms included [(“Colorectal cancer” AND “screening program” AND “incidence”) OR (“Colorectal cancer” AND “screening program” AND “mortality”)] AND [“fecal occult blood test” OR “sigmoidoscopy” OR “colonoscopy” OR “Double-contrast barium enema”]. Results: This review explored the current CRC mass screening protocols to find a more efficient and practical mass screening protocol and problems suitable for further research. Considering the current economic crisis and limited available resources, combination of high risk factor questionnaire and immunochemical fecal occult blood test approach as primary CRC mass screening can currently be used as a risk stratification tool to identify high-risk populations from the community, especially for medically and economically underserved areas/countries before a new better test comes. Using serum Pyruvate Kinase Isoenzyme M2 (M2-PK) as primary and colonoscopy as secondary screening test sounds more efficient with higher compliance than current CRC mass screening protocols. Conclusion: Recommendations for CRC mass screening are suggested for each risk population based on risk stratification. Serum M2-PK- may be developed as a promising CRC primary mass screening test. Sequential combination of serum biomarker such as Pyruvate Kinase Isoenzyme M2 (M2-PK) and colonoscopy can be a promising CRC mass screening protocol.

A nationwide study of mass urine screening tests on Korean school children and implications for chronic kidney disease management

Since 1998, urine screening tests have been performed on school children in Korea. We report the findings of the screening program that analyzed patients with proteinuria and/or hematuria. Between 1999 and 2008, 5,114 children were referred to pediatric nephrologists at seven nationwide hospitals. Renal biopsies were performed on 1,478 children [28.79 % of total subjects; 26.77 % for isolated hematuria (IH), 9.09 % for isolated proteinuria (IP), and 51.19 % for combined hematuria and proteinuria (CHP)] who showed abnormal renal function, persistent hematuria and/or proteinuria for more than 6 months, nephrotic-range proteinuria, or those with underlying systemic diseases. Chronic glomerulonephritis (GN) was detected in 25 % of all visiting subjects. The most common findings in renal biopsies were immunoglobulin A (IgA) nephropathy in 38.97 %, mesangial proliferative GN in 24.29 %, and thin basement membrane nephropathy in 13.13 %. Compared with the relative frequency of renal diseases associated with urinary abnormalities, CHP (46.90 %) and nephrotic-range proteinuria (69.96 %) groups had more frequent GN than the others. Abnormal findings on renal ultrasound with or without Doppler scan were noted in 462 cases (suspected nutcracker phenomenon, 159; increased parenchymal echogenicity, 92; hydronephrosis, 75; simple cyst, 47). Mass urine screening tests could detect asymptomatic GN in its early stages. Initial aggressive diagnosis and treatment for CHP and nephrotic-range groups may prove helpful as interventions that delay chronic kidney disease progression. These findings may assist in the development of diagnostic and management guidelines for relatively mild urinary abnormalities, such as IH or low-grade IP.

Electrocardiogram Screening for Disorders That Cause Sudden Cardiac Death in Asymptomatic Children: A Meta-analysis

Pediatric sudden cardiac death (SCD) occurs in an estimated 0.8 to 6.2 per 100 000 children annually. Screening for cardiac disorders causing SCD in asymptomatic children has public appeal because of its apparent potential to avert tragedy; however, performance of the electrocardiogram (ECG) as a screening tool is unknown. We estimated (1) phenotypic (ECG- or echocardiogram [ECHO]-based) prevalence of selected pediatric disorders associated with SCD, and (2) sensitivity, specificity, and predictive value of ECG, alone or with ECHO. We systematically reviewed literature on hypertrophic cardiomyopathy (HCM), long QT syndrome (LQTS), and Wolff-Parkinson-White syndrome, the 3 most common disorders associated with SCD and detectable by ECG. We identified and screened 6954 abstracts, yielding 396 articles, and extracted data from 30. Summary phenotypic prevalences per 100 000 asymptomatic children were 45 (95% confidence interval [CI]: 10-79) for HCM, 7 (95% CI: 0-14) for LQTS, and 136 (95% CI: 55-218) for Wolff-Parkinson-White. The areas under the receiver operating characteristic curves for ECG were 0.91 for detecting HCM and 0.92 for LQTS. The negative predictive value of detecting either HCM or LQTS by using ECG was high; however, the positive predictive value varied by different sensitivity and specificity cut-points and the true prevalence of the conditions. Results provide an evidence base for evaluating pediatric screening for these disorders. ECG, alone or with ECHO, was a sensitive test for mass screening and negative predictive value was high, but positive predictive value and false-positive rates varied.

Cost-effectiveness of chronic kidney disease mass screening test in Japan.

BackgroundChronic kidney disease (CKD) is a significant public health problem. Strategy for its early detection is still controversial. This study aims to assess the cost-effectiveness of population strategy, i.e. mass screening, and Japan’s health checkup reform.MethodsCost-effectiveness analysis was carried out to compare test modalities in the context of reforming Japan’s mandatory annual health checkup for adults. A decision tree and Markov model with societal perspective were constructed to compare dipstick test to check proteinuria only, serum creatinine (Cr) assay only, or both.ResultsIncremental cost-effectiveness ratios (ICERs) of mass screening compared with do-nothing were calculated as ¥1,139,399/QALY (US $12,660/QALY) for dipstick test only, ¥8,122,492/QALY (US $90,250/QALY) for serum Cr assay only and ¥8,235,431/QALY (US $91,505/QALY) for both. ICERs associated with the reform were calculated as ¥9,325,663/QALY (US $103,618/QALY) for mandating serum Cr assay in addition to the currently used mandatory dipstick test, and ¥9,001,414/QALY (US $100,016/QALY) for mandating serum Cr assay and applying dipstick test at discretion.ConclusionsTaking a threshold to judge cost-effectiveness according to World Health Organization’s recommendation, i.e. three times gross domestic product per capita of ¥11.5 million/QALY (US $128 thousand/QALY), a policy that mandates serum Cr assay is cost-effective. The choice of continuing the current policy which mandates dipstick test only is also cost-effective. Our results suggest that a population strategy for CKD detection such as mass screening using dipstick test and/or serum Cr assay can be justified as an efficient use of health care resources in a population with high prevalence of the disease such as in Japan and Asian countries.

Dried Blood Spot Real-Time Polymerase Chain Reaction Assays to Screen Newborns for Congenital Cytomegalovirus Infection

Rapid culture testing of saliva or urine is the standard method for identification of infants with congenital cytomegalovirus (CMV) infection, but it is labor- and resource-intensive and not suitable for mass screening. Dried blood spots (DBS) are routinely collected from newborns, and there has been increasing interest in the United States for the use of DBS polymerase chain reaction (PCR)-based methods for CMV screening in newborns. This study examined the diagnostic accuracy of 2 DBS real-time PCR assays for mass screening of newborns for CMV infection, and compared the results of PCR screening with rapid tissue testing. A total of 20,448 infants born at 7 US medical centers had saliva specimens tested by rapid culture and were divided into 2 groups. The tissue culture screening results were compared with single-primer DBS (group I, n = 11,442) in 2007 and with double-primer DBS (n = 11,442, group 2) in 2008. Infants with positive saliva or DBS screening specimens had the congenital infection confirmed in a follow-up study using rapid culture testing on saliva or urine. Of the 20,448 infants in both groups, 92 (0.45%; 95% confidence interval [CI], 0.36%–0.55%) had confirmed congenital CMV infection. Screening with saliva rapid culture correctly identified 91 of 92 infants with confirmed congenital CMV infection. The single-primer DBS PCR identified 28% (17/60) of group 1 infants confirmed to have CMV infection, and the 2-primer DBS PCR identified 34% (11/32) group 2 infants with confirmed infection. With respect to the single-primer DBS PCR assay, the sensitivity and specificity in identifying infants with confirmed CMV infection were 28.3% (95% CI, 17.4%–41.4%) and 99.9% (95% CI, 99.9%–100%), respectively; the positive and negative predictive values were 80.9% (95% CI, 58.1%–94.5%) and 99.6% (95% CI, 99.5%–99.7%), respectively; and the positive and negative likelihood ratios were 804 (95% CI, 279–2318) and 0.7 (95% CI, 0.6–0.8), respectively. With respect to the double-primer DBS PCR assay, the sensitivity and specificity for identifying infants with confirmed infection were 34.4% (95% CI, 18.6%–53.2%) and 99.9% (95% CI, 99.9%–100.0%), respectively; the positive and negative predictive values were 91.7% (95% CI, 61.5%–99.8%) and 99.8% (95% CI, 99.6%–99.9%), respectively; and the positive and negative likelihood ratios were 3089 (95% CI, 411–23,227) and 0.7 (95% CI, 0.5–0.8), respectively. These findings demonstrate that DBS real-time PCR has limited value as a mass screening test of newborns for CMV infection. It has low sensitivity and misses about two-thirds of the infections.

The Connection between the Presence of Melanoma and Changes in Fibre Diffraction Patterns

An accurate diagnosis of melanomas at an early stage correlates directly with a better prognosis. However the incidence of melanoma is still increasing along with the number of related deaths. Melanoma cells grow extremely fast, with the result that many patients present after metastasis has occurred, too late for effective treatment. This paper describes the changes in the fibre diffraction patterns of skin that indicate the presence of a melanoma. Identification of these changes would provide an alternative early low-cost, reliable diagnostic test which could be conducted on a regular basis in local radiology facilities using rotating anode X-ray generators or as a mass screening test using suitable small angle x-ray beam-lines at synchrotrons.

Alzheimer's Disease is Incurable but Preventable

The dramatic rising incidence and costs of Alzheimer's disease (AD) require that research efforts and funding be primarily directed on either finding a cure or applying preventive measures to curb this disorder. A cure for AD appears unlikely when significant cognitive loss has occurred because the neuronal networks that controlled the perturbed cognitive abilities are either dead or irreversibly damaged and replacing them, even if it were technically possible, would not reconstruct the intellectual identity of the host. Prevention of risk factors to sporadic AD is a more realistic stratagem and treatment, when indicated, ideally should begin in cognitively intact individuals as part of a mass screening effort. Prevention of modifiable risk factors to AD is cost-effective because it reduces hospice or hospital stay, repeated doctor visits, and long-term care. Presently, neurocognitive and neuroimaging tests are used with partial success in identifying persons at higher risk of AD but these tests can not pinpoint either a cause or a specific intervention that could attenuate disease progress. We previously proposed that carotid artery ultrasound +echocardiography together with ankle-brachail index (CAUSE+ABI) as mass screening tests in asymptomatic persons could detect not only cardio-cerebrovascular risk factors to AD, but also identify an indicated intervention. CAUSE+ABI are simple to perform, cost-effective, non-invasive, and reasonably accurate for the intended purpose. Additionally, detection of cardio-cerebrovasacular abnormalities long before expression of cognitive deterioration allows higher success rate with earlier treatment. Evidence-based medicine is recommended for optimizing clinical decision-making in evaluating AD risk factors and their treatment.

Fiber diffraction of skin and nails provides an accurate diagnosis of malignancies

An early diagnosis of malignancies correlates directly with a better prognosis. Yet for many malignancies there are no readily available, noninvasive, cost-effective diagnostic tests with patients often presenting too late for effective treatment. This article describes for the first time the use of fiber diffraction patterns of skin or fingernails, using X-ray sources, as a biometric diagnostic method for detecting neoplastic disorders including but not limited to melanoma, breast, colon and prostate cancers. With suitable further development, an early low-cost, totally noninvasive yet reliable diagnostic test could be conducted on a regular basis in local radiology facilities, as a confirmatory test for other diagnostic procedures or as a mass screening test using suitable small angle X-ray beam-lines at synchrotrons.

The usefulness of diagnostic tests in children with language delay

Purpose : To assess the usefulness of magnetic resonance imaging (MRI), karyotyping, brainstem auditory evoked potential (BAEP), electroencephalogram (EEG), tandem mass screening test, and newborn metabolic screening test in children with language delay for diagnosing underlying diseases. Methods : From January 2000 to June 2007, a retrospective chart review was performed for 122 children with language delay who visited the Child Neurology Clinic at Yeungnam University Hospital and who underwent neuropsychologic tests and other diagnostic evaluations for underlying diseases. They were grouped into phenomenological diagnostic categories, and test results were analyzed according to the underlying diseases. Results : Of 122 patients, 47 (38.5%) had mental retardation, 40 (32.8%) had developmental language disorders, 23 (18.9 %) had borderline IQ, and 12 (9.8%) had autism spectrum disorder. In 26 (21.3%) cases, the causes or relevant clinical findings to explain language delay were found. Eight (10.4%) of 77 MRIs, 6 (8.0%) of 75 EEGs, and 4 (5%) of 80 BAEPs showed abnormal results. Results directly attributed to diagnosing underlying diseases were 2 hearing defects in BAEPs and 1 bilateral perisylvian cortical dysplasia in MRIs. No abnormal results were found in karyotyping, tandem mass screening tests, and newborn screening tests. Conclusion : Commonly used tests to diagnose the cause of language delay are not very effective and should only be used selectively, according to patient characteristics. However, despite the low diagnostic yields from these tests, because many patients show abnormal results, these tests are useful when conducted in complete evaluation.