POMGnT1 gene alterations in a family with neurological abnormalities

Muscle-eye-brain disease (MEB), is caused by mutations in the POMGnT1 gene. We describe a white family with two siblings affected with congenital hypotonia early-onset glaucoma, and psychomotor delays. Brain magnetic resonance images (MRIs) showed hydrocephalus, bilateral frontal polymicrogyria, abnormal cerebellum, and characteristic flattened dystrophic pons. We identified novel POMGnT1 gene alterations in this family. Both affected siblings were found to be compound hetrozygotes and carried two missense changes inherited from their mother and one missense change (p.R442C) inherited from their father. Our findings further define the phenotypic spectrum of MEB and its occurrence in the US population.     

Consumption of Dry Beans, Peas, and Lentils Could Improve Diet Quality in the US Population

The US Department of Agriculture's MyPyramid guidelines introduced a near doubling of the dietary recommendations for vegetables. These recommendations target specific subgroups of vegetables, including dry beans and peas. Dry beans and peas provide an array of nutrients and phytochemicals that have been shown to have beneficial health effects, yet consumption levels in the United States are quite low. Few studies have examined the influence of legume consumption on nutrient intakes. Therefore, the purpose of this study was to assess nutrient and food group intakes of dry bean and pea consumers compared to nonconsumers. Dietary intake data from the 1999-2002 National Health and Nutrition Examination Survey for adults aged ≥19 years was used. Results show that on any given day only 7.9% of adults are consuming dry beans and peas; Mexican Americans or other Hispanics are more likely to be consumers than nonconsumers. Consuming approximately ½ c dry beans or peas resulted in higher intakes of fiber, protein, folate, zinc, iron, and magnesium with lower intakes of saturated fat and total fat. These data support the specific recommendation for dry beans and peas as part of the overall vegetable recommendation. Increased consumption of dry beans and peas—economical and nutrient-rich foods—could improve the diet quality of Americans.     

Pediatric convulsive status epilepticus in Honduras, Central America

Convulsive status epilepticus (SE) in children is an important public health problem, particularly in low-resource countries. A surveillance study was performed with consecutive enrollment of all children presenting with convulsive SE to Hospital Escuela Materno-Infantil Emergency Department in Tegucigalpa, Honduras over a 13-week period in 2003. In the 47 children with SE, the mean age was 4.5 years and the median seizure duration was 95 min. Mortality and morbidity were higher in children from rural locations, with all six deaths and three cases of new neurologic abnormalities occurring in rural children who had acute symptomatic SE. We conclude that childhood SE is common in the low-resource developing country of Honduras. Given the long delays in obtaining initial treatment in pediatric emergency facilities, availability of prehospital treatment may be of particular importance in this setting.     

A trial for comparing methods for eliciting treatment preferences from men with advanced prostate cancer: results from the initial visit

OBJECTIVE: The objective of this study was to evaluate the convergent validity of 3 types of utility measures: standard gamble, time tradeoff, and rating scale. RESEARCH DESIGN: A prospective cohort of 120 men with advanced prostate cancer were first asked to rank order 8 health states, and then utility values were obtained from each participant for each of the 8 health states through 2 of the 3 techniques evaluated (standard gamble, time tradeoff and rating scale). Participants were randomly assigned to 1 of 3 possible pairs of techniques. The validity of the 3 methods, as measured by the convergence and raw score differences of the techniques, was assessed with ANOVA. The ability of the techniques to differentiate health states was determined. The inconsistencies between rankings and utility values were also measured. Proportions of illogical utility responses were assessed as the percent of times when states with more symptoms were given higher or equal utility values than states with fewer symptoms. RESULTS: There were significant differences in raw scores between techniques, but the values were correlated across health states. Utility values were often inconsistent with the rank order of health states. In addition, utility assessment did not differentiate the health states as well as the rank order. Furthermore, utility values were often illogical in that states with more symptoms received equal or higher utility values than states with fewer symptoms. CONCLUSIONS: Use of the utility techniques in cost-effectiveness analysis and decision making has been widely recommended. The results of this study raise serious questions as to the validity and usefulness of the measures.     

Reproductive problems and birth defects in survivors of Wilms' tumor and their relatives

In a retrospective cohort study of 47 Wilms' tumor survivors and their 77 sibling controls, female survivors had a fourfold excess risk (risk ratio, 4.1; 95% confidence interval, 1.7-10.1) for any adverse livebirth outcome, including birth defects, compared with their sibling controls. Wives of male survivors had no apparent excess risk for problem pregnancies. The families had a number of severe reproductive problems and major birth defects, such as primary amenorrhea in two survivors, bicornuate uterus in two survivors and one control, and mental retardation in one male survivor and a male control. The son of a female survivor died after bilateral Wilms' tumors. Birth defects in the offspring of female survivors are compatible either with intrauterine constraint, possibly due to radiation-induced fibrosis or with the complex of malformations associated with Wilms' tumor. Female survivors of Wilms' tumor appear to be at increased risk for a variety of reproductive problems, from sterility to fetal loss, early delivery, and birth defects in offspring. Furthermore, relatives of survivors of Wilms' tumor may be at risk of having associated birth defects, with clinically significant consequences.     

The HOXA1 A218G polymorphism and autism: lack of association in white and black patients from the South Carolina Autism Project

A recent study has suggested that the A218G polymorphism in the homeobox Al (HOXA1) gene may influence susceptibility to autism. We have determined the frequencies of the A and G alleles of the HOXA1 A218G polymorphism in both white and black patients from the South Carolina Autism Project (SCAP) and controls. Marked differences were found in allele frequencies between the races, but no deviations from Hardy-Weinberg equilibrium were seen in either white or black SCAP family members. More direct tests, comparing genotype frequencies between probands and controls and tracking transmission of the A versus G alleles to affected offspring, did not support the contention that allele status for the HOXA1 A218G polymorphism influences one's susceptibility to autism.     

Dietary intake and blood folate levels in Honduran women of childbearing age

Neural tube defects are common birth defects, the frequency of which appears to be reduced by maternal supplementation and/or fortification of folic acid. Latin Americans have a high incidence of neural tube defects. We surveyed the dietary intake of Honduran women of childbearing age using a 24-hour dietary recall questionnaire in inner-city, town, and country areas. We randomly checked blood folate in the surveyed population to compare to the normal range for the US population. Normal US recommended dietary allowance intake of folate was documented in association with a low intake of many other essential nutrients. There also were significant differences for nutrient intakes in city, town, and country areas. Blood folate levels in all locations were in the low normal range when compared to the presupplementation/prefortification US population. Our data support using an established folic acid fortification public health initiative to decrease the prevalence of neural tube defects in Honduras.     

Valuation of arthritis health states across ethnic groups and between patients and community members

OBJECTIVE: We sought to examine differences in valuation of health by individuals from different ethnic backgrounds and between patients and community members. RESEARCH DESIGN: We surveyed 193 community members identified by random-digit dialing (ie, 64 white, 65 black, and 64 Hispanic) and 198 patients with osteoarthritis (OA), 66 per ethnic group, drawn sequentially from clinic lists of an outpatient institution. MEASURES: Participants were interviewed and asked to rate 2 scenarios describing arthritis (mild and severe) using visual analog scale (VAS), standard gamble (SG), and time trade-off (TTO). Differences were adjusted for cohort, age, gender, and education. RESULTS: Members of the public had higher preference scores for the 2 health states than patients (SG severe state: 0.77 public, 0.66 patients; SG mild state: 0.90 public, 0.84 patients). The difference score between the mild and severe states was smaller for black than white subjects (P < 0.001) by SG and TTO. Scores for Hispanics and whites did not differ. Preference scores increased with age (SG, TTO). CONCLUSIONS: Significant differences were observed in the valuation of health between members of the public and patients, among ethnic groups, and in relation to educational status and age, with the difference between utilities of health states being a more efficient measure of preference than the utility of a single state. Utilities elicited through valuation of hypothetical health scenarios are dependent on sociodemographic traits, experience of disease, and method used. These findings suggest that utilities cannot be used interchangeably across populations, with implications for economic analyses.