Ultrasound screening of fetuses at increased risk for Down syndrome: how many missed diagnoses?

Objective: To determine the number of Down syndrome (DS) fetuses identified, amniocenteses performed, and procedure-related losses incurred when second-trimester ultrasound is used to screen high-risk patients in order to determine who should undergo an amniocentesis.

Methods: A decision analytic model was designed for women at increased risk for a DS fetus due to either advanced maternal age (AMA) or a positive expanded maternal serum alpha fetoprotein (MSAFP) screening test, also known as a triple screen (+triple) test. The model compared: (1) the current standard of offering all at-risk women amniocentesis to (2) a policy of performing amniocentesis only when sonographic markers of DS are seen on ultrasound.

Acetabular reconstruction in revision hip surgery using femoral head block allograft.

This prospective study analyzed the clinical and radiological results of 140 consecutive cases of acetabular revision using large frozen femoral head allografts and cemented all-polyethylene acetabular components. Mean follow-up was 10 years (range: 5-16 years). Thirty patients died, seven were lost to follow-up, and 26 had failed and undergone further surgery.

Prescription of teratogenic medications in United States ambulatory practices.

Purpose: The purpose of this study was to identify the potentially teratogenic medications most frequently prescribed to women of childbearing age and the specialty of physicians who provide ambulatory care to women who use such medications. In addition, we evaluated rates of contraceptive counseling to explore awareness of the risks associated with teratogenic medication use.

Subjects And Methods: The prescription of teratogenic medications and provision of contraceptive counseling on 12,681 visits made by nonpregnant women, 14 to 44 years of age, to 1880 physicians in US ambulatory practice (National Ambulatory Medical Care Survey) between 1998 and 2000 was analyzed.

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

This work describes an approach to characterize the clinical significance of genetic variants detected during the genetic testing of BRCA1 in patients from hereditary breast/ovarian cancer families. Results from transgenic mice and extensive clinical testing support the hypothesis that biallelic BRCA1 mutations result in embryonic lethality. Therefore, it is reasonable to conclude that variants of uncertain clinical significance found to reside in trans with known deleterious mutations impart reduced risk for cancer.

Population-based study of medical comorbidity in early dementia and "cognitive impairment, no dementia (CIND)": association with functional and cognitive impairment: The Cache County Study.

Objective: Authors investigated medical comorbidity in persons with dementia and "Cognitive Impairment, No Dementia" (CIND).

Methods: The Cache County Study is an ongoing population-based study of the epidemiology of dementia, the risk factors for conversion from CIND to dementia, and the progression of dementia. As part of the study's first incidence wave, persons with dementia (N=149), CIND (N=225), or without cognitive impairment (N=321) were identified and studied.

Effect of the interpregnancy interval on perinatal outcomes in Latin America.

Objective: To estimate whether interpregnancy interval is independently associated with increased risk of perinatal death and other adverse perinatal outcomes.

Methods: We investigated the effect of interpregnancy interval on perinatal outcomes in 1,125,430 pregnancies recorded in the Perinatal Information System database of the Latin American Center for Perinatology and Human Development, Montevideo, Uruguay, between 1985 and 2004. Odds ratios (ORs) were adjusted for 16 major confounding factors using multiple logistic regression models.

Ethnic variation in the prevalence of echogenic intracardiac foci and the association with Down syndrome.

Objective: To determine whether the prevalence of fetal echogenic intracardiac foci (EIF) differs according to maternal ethnicity.

Methods: We performed a retrospective cohort study of all women undergoing second-trimester diagnostic ultrasound examination and amniocentesis at a prenatal diagnosis referral center from January 1 2000 to July 1 2003. Data were collected on the presence of EIF, gestational age at time of ultrasound scan, karyotype results, maternal age and ethnicity.

Identification of VaD and AD prodromes: the Cache County Study.

Background: It is unclear whether vascular dementia (VaD) has a cognitive prodrome, akin to the mild cognitive impairment (MCI) prodrome to Alzheimer's dementia (AD). To evaluate whether VaD has a cognitive prodrome, and if it can be differentiated from prodromal AD, we examined neuropsychological test performance of participants in a nested case-control study within a population-based cohort aged 65 or older.

Methods: Participants (n = 485) were identified from the Cache County Study, a large population-based study of aging and dementia.

Apolipoprotein E genotype and mortality: findings from the Cache County Study.

Objectives: To evaluate the association between apolipoprotein E (apo E) epsilon4 and mortality, the population attributable risk for mortality with epsilon4, and relative contributions of cardiovascular disease (CVD) and Alzheimer's disease (AD).

Design: Population-based cohort study.

Setting: Community-based.

Fetal magnetic resonance imaging in the evaluation of fetuses referred for sonographically suspected abnormalities of the corpus callosum.

Objective: Fetal magnetic resonance imaging (MRI) has been shown to be useful in assessing the developing central nervous system. However, its utility in specific brain disorders has not been well investigated. We hypothesized that fetal MRI can better assess the integrity of the brain in cases with sonographically suspected callosal abnormalities.

New evidence on birth spacing: promising findings for improving newborn, infant, child, and maternal health.

This editorial summarizes new evidence, some of which is published in this supplement, on birth spacing and newborn, infant, child and maternal health, as well as the demand for birth spacing services in the developing world. The article points to the high number of annual infant, child and maternal deaths, low birth weight infants and malnourished infants and children in developing countries. It highlights several new findings on birth spacing relevant to these conditions: It argues that, in light of the new evidence, birth spacing is an important, feasible and practical intervention to address these conditions and should be included in developing country health programs.

Seasonal patterns of growth, dehydrins and water-soluble carbohydrates in genotypes of Dactylis glomerata varying in summer dormancy.

Background And Aims: Summer dormancy in perennial grasses has been studied inadequately, despite its potential to enhance plant survival and persistence in Mediterranean areas. The aim of the present work was to characterize summer dormancy and dehydration tolerance in two cultivars of Dactylis glomerata (dormant 'Kasbah', non-dormant 'Oasis') and their hybrid using physiological indicators associated with these traits.

Methods: Dehydration tolerance was assessed in a glasshouse experiment, while seasonal metabolic changes which produce putative protectants for drought, such as carbohydrates and dehydrins that might be associated with summer dormancy, were analysed in the field.

Internal structure of polyelectrolyte multilayers probed via neutral impact collision ion scattering spectroscopy.

Layering in polyelectrolyte multilayer films has been studied by neutral impact collision ion scattering spectroscopy. The method affords a direct look at vertical ordering within these films at the nanometer scale. By labeling certain polyelectrolyte layers with heavy atom (Ru) probes, sufficient contrast has been obtained to visualize and quantify the distribution of these labeled polyelectrolytes throughout the film.

New approach to the statistical analysis of cardiovascular data.

Fourier-based approaches to analysis of variability of R-R intervals or blood pressure typically compute power in a given frequency band (e.g., 0.

Prenatal testing guidelines: time for a new approach.

Numerous advances over the past 15 years have led to a much wider array of prenatal testing options for pregnant women who are interested in obtaining information regarding the chromosomal status of their fetus. However, despite recent data calling into question the assumptions underlying current testing guidelines, including those inherent in the risk-based threshold for offering invasive testing, chorionic villus sampling and amniocentesis are still typically offered only to women whose likelihood of carrying a fetus affected by a chromosomal disorder such as Down syndrome is at least as high as that of the average 35-year-old. In this paper, we summarize the evidence suggesting that this aspect of prenatal testing guidelines should be revisited, and that women should be allowed to make informed decisions regarding the use of invasive testing that are reflective of their own values and preferences.

Do statins reduce risk of incident dementia and Alzheimer disease? The Cache County Study.

Background: Prior reports suggest reduced occurrence of dementia and Alzheimer disease (AD) in statin users, but, to our knowledge, no prospective studies relate statin use and dementia incidence.

Objective: To examine the association of statin use with both prevalence and incidence of dementia and AD.

Design: Cross-sectional studies of prevalence and incidence and a prospective study of incidence of dementia and AD among 5092 elderly residents (aged 65 years or older) of a single county.

Prenatal diagnosis of minute supernumerary marker chromosomes.

The identification of supernumerary marker chromosomes (SMC) at prenatal diagnosis is problematic, particularly for the prediction of phenotype. The assessment of phenotypic risk is based on the size, morphology and origin of the SMC. Fluorescence in situ hybridization (FISH) characterization and family studies are also employed to aid in determining the significance of a prenatally ascertained SMC.

Familial neurocardiogenic (vasovagal) syncope.

Vasovagal syncope (VSS) is an exaggerated tendency towards the common faint caused by a sudden and profound hypotension with or without bradycardia. The etiology of VVS is unknown though several lines of evidence indicate central and peripheral abnormalities of sympathetic function. Studies however indicate a strong heritable component to the etiology of VVS in over 20% of cases.

Casuistry and social category bias.

This research explored cases where people are drawn to make judgments between individuals based on questionable criteria, in particular those individuals' social group memberships. We suggest that individuals engage in casuistry to mask biased decision making, by recruiting more acceptable criteria to justify such decisions. We present 6 studies that demonstrate how casuistry licenses people to judge on the basis of social category information but appear unbiased--to both others and themselves--while doing so.