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Biomedical subjects

F J Meaney

Publications and source records attributed to F J Meaney.

At least 19 recordsLinked to original sources
PubMed2000

Metacarpophalangeal pattern profile analysis in Noonan syndrome.

Metacarpophalangeal pattern (MCPP) analysis is an application of an anthropometric technique that provides a quantitative assessment of the amount and direction of abnormality in the hand skeleton. MCPP analysis was undertaken on 15 individuals (9 males, 6 females) with Noonan syndrome ranging in age from 0.1 to 36 years with a mean age at 11.6 years. The overall average Z score for the MCPP variables was -2.1 and the range was -2.5 (for metacarpal two) and -1.5 (for middle phalanx 5). The average hand pattern variability index, a measure of hand bone length relationships, was abnormal. A Pearsonian correlation analysis was used to assess similarity between the mean pattern and each of the 15 individual patterns. Nine (60%) of the fifteen individuals with Noonan syndrome had significant positive correlations (P < 0.05), indicating homogeneity or similarity in the hand patterns. A stepwise discriminant analysis was performed on Z score data from the individual hand bone measurements on the 15 subjects with Noonan syndrome and 41 healthy controls (24 females, 17 males; mean age = 13.1 years with age range of 9.6 to 18 years). This analysis produced a discriminant function with two MCPP variables (metacarpal 1 and middle phalanx 3) entering into the function and producing a correct classification rate of 93%. The two MCPP variables contributed to the overall difference between individuals with Noonan syndrome and the normative sample. The hand pattern variability index was outside of the normal range, indicating an abnormal MCPP with multivariate analysis. The MCPP analysis may be useful as a tool for diagnosis in screening subjects for Noonan syndrome.

Adolescent↗
PubMed1998

Improving access to and utilization of genetic services in Arizona's Hispanic population.

This abstract presents a model project aimed to train community lay health workers about genetics, increase cultural competency of genetic services providers, and provide local access to genetic services in primarily Hispanic communities in the state of Arizona. Health Start, a community-based prenatal outreach program, served as the basis for providing genetic education and services. A genetics training curriculum was developed and training of community lay health workers was provided. Cultural and Spanish language training was provided for all genetic services providers. Pediatric genetics outreach clinics were established in eight communities. Community-based lay health workers eagerly incorporate genetic information into their public health knowledge base, but this may not lead to acceptance of these personnel by local health care providers as sources of referrals for specialized health services such as genetics. Cultural competence training of genetic service providers is enthusiastically accepted and utilized in the provision of locally accessible genetics clinics.

Journal Article↗
PubMed1997

Factors influencing age at referral of children with congenital heart disease.

OBJECTIVES: To chronicle current referral practices for children with congenital cardiac disease and to determine which factors (lesion, physician type, insurance, or physician location) influenced the age at referral. METHODS: Data were collected from our congenital cardiac registry for all children born from January 1, 1989, through December 31, 1994, with 1 of 4 isolated lesions: valvular aortic stenosis, secundum atrial septal defect, tetralogy of Fallot, and ventricular septal defect. Variables included insurance plan at referral, referring physician (nonpediatrician vs pediatrician), and physician location (urban vs nonurban). RESULTS: The study population included 544 children. In the neonatal period, mean age at referral was 9 days for patients with private insurance and those with managed care. Nonurban neonates were referred a mean of 5.2 days later than urban neonates. After the neonatal period, those with managed care were referred later (279 days) than those with commercial insurance (165 days). Mean nonurban referral age was 213 days vs 136 days for urban referrals (P=.008). After the neonatal period, mean age at referral increased progressively each year for those with managed care. Mean referral age by all nonpediatricians was 222 days vs 136 days for all pediatricians (P=.008), but nonurban pediatricians referred patients at a similar age as nonpediatricians. CONCLUSIONS: For neonates the major risk factor for delayed referral was nonurban location; for the whole group, major risk factors were insurance other than commercial, nonurban location, and lesion type.

Age Factors↗
PubMed1997

A case-control study of lung cancer mortality in six Gila Basin, Arizona smelter towns.

To investigate factors related to lung cancer mortality in six Arizona copper smelter towns, we identified 185 lung cancer cases and two matched controls per case from decedent residents during 1979-1990. Detailed information on lifetime residential, occupational, and smoking history was obtained by structured telephone interviews with knowledgeable informants. Interviews were completed for 82% of 183 eligible cases and 88% of the targeted number (366) of controls. Estimated historical environmental exposures to smelter emissions, based on atmospheric diffusion modeling of measured SO2 concentrations, were linked with residential histories to derive individual profiles of residential exposure. Occupational histories were characterized by potential exposure to smelter emissions, asbestos, and ionizing radiation. Conditional logistic regression was used to compare study factors in cases and controls with adjustment for potential confounding factors: gender, Hispanic ethnicity, and smoking. In overall and gender-specific analyses, no statistically significant associations were observed between lung cancer risk and any of the measures of residential exposure to smelter emissions considered (town of residence at time of death, highest level of exposure, and duration or cumulative exposure above background levels), or any of the estimated occupational exposures (definite or potential asbestos, potential ionizing radiation, definite or potential smelter). Among male residents of some, but not all, towns, there was some evidence of a positive association between lung cancer risk and reported copper smelter-related employment (reported as definite), with the highest risk observed for Miami, Arizona. This study provided little evidence of a positive association between lung cancer mortality and residential exposure to smelter emissions. Specific factors associated with the apparent heterogeneity in lung cancer risk across study towns cannot be identified in this community-based study.

Arizona↗
PubMed1996

Guidelines for the retention, storage, and use of residual dried blood spot samples after newborn screening analysis: statement of the Council of Regional Networks for Genetic Services.

These guidelines provide scientific information for policy development by state health departments considering appropriate use of newborn screening specimens after screening tests are finished. Information was collected, debated, and formulated into a policy statement by the Newborn Screening Committee of the Council of Regional Networks for Genetic Services (CORN), a federally funded national consortium of representatives from 10 regional genetics networks. Newborn screening programs vary widely in approaches and policies concerning residual dried blood spot samples (DBS) collected for newborn screening. Recognition of the epidemiological utility of DBS samples for HIV seroprevalence surveys and a growing interest in DBSs for DNA analysis has intensified consideration of issues regarding retention, storage, and use of residual DBS samples. Potentially these samples provide a genetic material "bank" for all newborns nationwide. Their values as a resource for other uses has already been recognized by scientists, administrators, and judicial officials. Programs should promulgate rules for retention and use of residual newborn screening DBS samples based on scientifically valid information. Banking of newborn samples as sources of genetic material should be considered in light of potential benefit or harm to society.

Blood Specimen Collection↗
PubMed1993

Metacarpophalangeal pattern profile analysis in Brachmann-de Lange syndrome.

We analyzed the metacarpophalangeal pattern profile (MCPP) of 19 individuals with Brachmann-de Lange syndrome (BDLS) and calculated a mean syndrome profile. Fourteen of 19 individuals with BDLS had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with BDLS compared with a sample of normal individuals produced a correct classification rate of 100% based on a function of 2 MCPP variables that may provide a useful tool for assisting in the diagnosis of BDLS. An average pattern variability index calculated for the BDLS patients was 1.9 indicating an abnormal hand pattern in this syndrome.

Adolescent↗
PubMed1993

Providers and consumers of prenatal genetic testing services: what do the national data tell us?

Prenatal genetic services are currently available in all but a few states. The Council of Regional Networks for Genetic Services (CORN) has developed and implemented a data collection project to collect a minimum data set (MDS) on genetic services, including prenatal services, throughout the US. More than 400 reporting units were solicited for data in 1989, and approximately 240 (60%) responded. The CORN MDS Report for 1989 shows that more than 124,000 prenatal patients received services in the reporting centers. These individuals received almost 303,000 individual prenatal clinical services and accounted for more than 481,000 laboratory tests. Advanced maternal age was the primary indication for service in the vast majority of patients (62%). Based on data from the two major proficiency testing programs for laboratories performing screening tests for maternal serum alpha-fetoprotein (MSAFP), it is estimated that 50% of the pregnancies in the US are screened for MSAFP. The CORN database provides the only data available for the rapidly expanding area of genetic services. Therefore, it provides a unique resource for evaluating progress toward the Healthy People 2000 objectives regarding genetic services.

Adult↗
PubMed1991

The relationship of bone mineral density and anthropometric variables in healthy male and female children.

The relationships among bone mineral measurements at hip, wrist, and spine sites and anthropometric measurements which provided estimates of frame size, skinfold thickness, and muscularity were examined in a population of 140 children. The average age of the children at the time of measurement was 9.5 +/- 2.5 years and all subjects were white. In this study population, the anthropometric measurements were generally highly intercorrelated. Univariate correlations among bone mass and density variables at the different sites were also high, especially in the female children. Model fitting procedures were employed to separate the effects of age, frame size, and fatness on the bone mass measures. Resulting models confirmed previous results which suggest that height is the best predictor of bone mass in children. As expected, models for bone mineral content and bone mineral density were similar. Models for hips and wrist sites were also similar in including an estimate of frame size, while in those for the spine hip circumference explained a greater percentage of the variance. It appears that there are several identifiable characteristics among the anthropometric variables which appear to exert differential effects on skeletal development in children.

Absorptiometry, Photon↗
PubMed1991

Anthropometric study with emphasis on hand and foot measurements in the Prader-Willi syndrome: sex, age and chromosome effects.

Age, sex and chromosome effects on weight, height, sitting height, three head dimensions, and five hand and three foot measurements were analyzed from 57 patients (35 males and 22 females) with the Prader-Willi syndrome (PWS). No significant differences were observed in anthropometric data between PWS patients with the 15q chromosome deletion and those with normal chromosomes. Preschool children were found to have dolichocephaly, while hand and foot measurements, stature and sitting height were within normal range, although foot size was smaller than hand size in females when compared with PWS males. However, anthropometric measurements, excluding weight, head length and ankle breadth, were less than -2 SD in adult patients. Abnormal growth patterns apparently exist with significant negative correlations with age, particularly in PWS males, for height, sitting height, head circumference, and hand and foot measurements, but a significant positive correlation for weight was found in patients below 10 years of age.

Adolescent↗
PubMed1991

Development of a national genetic services database.

The Council of Regional Networks for Genetics Services (CORN) designed and developed a database collection project to collect minimum data regarding genetic services provided throughout the United States. The data collection project has been designed to improve the provision of services and to determine areas of utilization.

Databases, Factual↗
PubMed1991

Standards for selected anthropometric measurements in Prader-Willi syndrome.

We report standards (95th, 50th, and 5th centiles) in Prader-Willi syndrome for weight, height, sitting height, head circumference, head length, head breadth, hand length, middle finger length, palm length, hand breadth, foot length, foot breadth, triceps skinfold, and subscapular skinfold. For comparison with Prader-Willi syndrome standardized curves, normal control data from the literature were plotted similarly and standard curves were produced. We encourage the use of these standards with the examination of patients who have Prader-Willi syndrome and in the comparison of the patient who has Prader-Willi syndrome with other similarly affected individuals. The standards may also be useful for assisting in the diagnosis of Prader-Willi syndrome, particularly in younger individuals.

Adolescent↗
PubMed1990

Bone mass and anthropometric measurements in adult females.

Bone mass and anthropometrics were measured in 342 adult female twins, aged 25-79 (mean = 44.1 years) for the purpose of: (1) identifying which anthropometric measurements were most strongly associated with bone mass at various skeletal sites, and (2) determining the accuracy of combinations of these measurements in the prediction of bone mass. Among the eight skinfolds measured, the subscapular site was more strongly correlated with all bone mass measurements than any other skinfold. Similarly, calf circumference (among four sites) and biacromial width (among five frame size measurements) provided the strongest correlations within these groups of anthropometrics with all bone sites. The somewhat surprising consistency of these results was then tested in multivariable models for the prediction of bone mass. For the entire study group, each of the anthropometric measurements (subscapular skinfold, calf circumference and biacromial width) were independent, significant predictors of bone mass, even when height, weight and age were included in the models. These data suggest that frame size, muscularity and adiposity have independent effects on the skeleton, and that single measurements of each of these anthropometric characteristics are associated with all skeletal sites.

Adipose Tissue↗
PubMed1990

Adrenal androgen excretion during adrenarche. Relation to race and blood pressure.

We have previously shown that black children have higher blood pressures than white children. In the present study, we examined whether a possible racial difference in adrenal androgen production during adrenarche might contribute to the racial disparity in blood pressure. Adrenal androgen production was estimated from urinary excretion of adrenal androgen metabolites that showed cross-reactivity with antisera to dehydroepiandrosterone sulfate (DHEA-S). Urine samples were collected overnight in 798 children, one third of whom were black. Analyses were performed for two different age groups, less than 10 years and 10 years or more of age. In children less than 10 years of age, adrenal androgen excretion rates were 17% higher in blacks than in whites (p = 0.0099); adrenal androgen excretion rates tended to be higher in older black children as well, but differences here were not statistically significant. Adrenal androgen excretion rates were positively correlated with diastolic blood pressure in the older age group only (p = 0.014). However, when the relation of race to blood pressure was examined along with adrenal androgen excretion adjusted for age, sex, and weight, race remained an independent contributor to the level of blood pressure, suggesting that a difference in adrenal androgens could not explain the racial differences in blood pressure. In summary, black children produced more adrenal androgen, but this did not explain their higher blood pressures. In older children, where adrenal androgen excretion rates were higher, diastolic blood pressure and adrenal androgen excretion were positively related, suggesting that adrenal androgens participate in establishing the level of blood pressure in young people.

Adrenal Glands↗
PubMed1990

Genetic and behavioral influences on body fat distribution.

Genetic and environmental influences on four measures of body fat distribution - subscapular/triceps ratio (STR), waist/hip ratio (WHR), and regression-adjusted subscapular skinfold and waist circumference indices - were examined in 265 pairs of white male twins, ages 59 to 70 years, who participated in the third examination of the National Heart, Lung, and Blood Institute's Twin Study. Skinfold indices of fat distribution were not highly correlated with indices based on body circumferences (r = 0.26-0.37 for the four possible correlations). After adjustment for overall obesity, the heritability of the adjusted subscapular skinfold index was substantial (h2 = 0.60, P less than 0.001), as were estimates for both subscapular and tricep skinfolds individually. By contrast, heritability of the STR was low and of borderline statistical significance (h2 = 0.24, P = 0.06). Heritability for the WHR (h2 = 0.31, P = 0.07) was also low. Although higher estimates were observed for the adjusted waist circumference index (h2 = 0.46, P = 0.02) and for the component circumferences, these were not clearly due to genetic influences. Among behavioral influences, cigarette smoking was strongly related to the WHR and adjusted waist circumference index (P less than 0.0001). A crude measure of total physical activity was weakly, inversely related to WHR (P = 0.06), and slightly more strongly related to the adjusted waist circumference index (P = 0.01). Skinfold indices were unrelated to either behavior. We conclude that: (1) skinfold indices measure a different dimension of fat distribution than circumference indices; (2) there is evidence for a genetic influence on subcutaneous fat distribution, but less evidence for such an influence on the WHR; (3) behavioral factors appear to be more important in determining the WHR than subcutaneous fat patterning.

Adipose Tissue↗