Biomedical subjects

Richard S Olney

Publications and source records attributed to Richard S Olney.

12 recordsLinked to original sources

PubMed2006

Trends and racial disparities in muscular dystrophy deaths in the United States, 1983-1998: an analysis of multiple cause mortality data.

To identify trends and patterns associated with muscular dystrophy (MD)-associated deaths, we analyzed population-based data from death certificates in the Multiple Cause Mortality Files compiled by the National Center for Health Statistics. From 1983 to 1998, 14,499 deaths in the United States were associated with ICD-9 codes for MD. The mortality rate for MD in the general U.S. population over this time period was 0.365 per 100,000 persons per year. Stratification by age at death revealed a trimodal distribution with peaks at 0, 17, and 62 years. The male-to-female ratio varied with age at death, a pattern consistent with a mixture of autosomal and X-linked MDs with different prognoses. Deaths related to MD appeared to be equally divided between presumed autosomal and X-linked MDs. The mortality rate was higher in Whites than in Blacks, for both autosomal and X-linked MDs. The median age at death was lower in Blacks than Whites for both males and females. Cardiac complications were more commonly noted among MD-associated deaths in Blacks (38.9%) than Whites (28.6%). Respiratory infections were noted in about 20% of MD-associated deaths and were more common in winter than summer months. Potential reasons for the racial differences include differences in prevalence rates, rates of diagnosis, and reporting on death certificates. Additional studies are needed to resolve these issues. Challenges in the interpretation of these data include the lack of ICD-9 codes specific for individual MDs and potential recording biases in underlying cause of death and contributing factors. We also present a method for estimating autosomal and X-linked contributions to the overall mortality rate of a genetically heterogeneous condition such as MD.

Adolescent↗

PubMed2006

Storage and use of residual dried blood spots from state newborn screening programs.

OBJECTIVES: To provide current data for policy discussions and to assess future needs among newborn screening programs regarding the storage and use of residual dried blood spots (DBS) in the United States. STUDY DESIGN: An electronic questionnaire was administered to U.S. state health department laboratory directors in 2003. RESULTS: Responses were received from 49 of the 50 states. Approximately half of them stored residual DBS for more than 6 months, 57% did not have a written policy that determines how residual DBS can or cannot be used, and 16% informed parents that DBS might be retained. Residual DBS were used by 74% of respondents for evaluation of newborn screening tests, by 52% for clinical or forensic testing, and by 28% for epidemiologic studies. Use of DBS was reported more frequently by states with extended storage. When asked if they might participate in an anonymous multistate epidemiologic study by contributing unlinked DBS, 41% responded affirmatively. CONCLUSIONS: More states have used residual DBS for evaluating newborn screening tests than for epidemiologic studies. There is potential interest among states in using unlinked DBS for multistate studies and a need for written policies addressing all uses of residual DBS.

Blood Specimen Collection↗

PubMed2005

Maternal progestin intake and risk of hypospadias.

BACKGROUND: Previous studies have suggested that maternal intake of progestins during early pregnancy may be associated with an increased risk of hypospadias. Progesterone and its derivatives are commonly prescribed during early pregnancy, for example, in cases of luteal phase dysfunction and in conjunction with ovulation stimulation drugs. OBJECTIVE: To examine whether risk of hypospadias was associated with periconceptional progestin intake. DESIGN AND SETTING: The National Birth Defects Prevention Study, a population-based, multistate, case-control study including deliveries that had estimated due dates from October, 1997 to December, 2000. PARTICIPANTS: Participation in the study was 71% among case mothers and 68% among control mothers. This analysis included 502 subjects diagnosed with second- or third-degree hypospadias (ie, the urethra opened at the penile shaft, scrotum, or perineum) and 1286 male, live-born, nonmalformed control subjects. RESULTS: Forty-two case mothers (8.4%) and 31 control mothers (2.4%) reported any pregnancy-related progestin intake from 4 weeks before through 14 weeks after conception, resulting in an odds ratio of 3.7 (95% confidence interval [CI], 2.3-6.0). Analyses stratified by several potential covariates also suggested elevated risks. For example, among the 10 cases and 13 controls who did not report any fertility-related procedures or treatments other than progestins, the odds ratio was 2.2 (95% CI, 1.0-5.0). Progestin intake for the purpose of contraception was not associated with increased risk. CONCLUSION: This study found that pregnancy-related intake of progestins was associated with increased hypospadias risk.

Abnormalities, Drug-Induced↗

PubMed2005

Epidemiology of gastroschisis in metropolitan Atlanta, 1968 through 2000.

BACKGROUND: An increase in the rate of gastroschisis has been documented by birth defects surveillance systems in the United States and in other countries. This study sought to evaluate historical trends in the rate of gastroschisis in Atlanta, Georgia, and to describe the epidemiology of gastroschisis over 33 years. METHODS: Gastroschisis cases were identified through the Metropolitan Atlanta Congenital Defects Program (MACDP) from 1968 through 2000. Poisson regression techniques were used to evaluate trends over time. Data on covariates were compared for three maternal age groups (< or =19, 20-24, and > or =25 years). RESULTS: From 1968 through 1975, the rate of gastroschisis was stable at 0.8 per 10,000 births. After 1975, the rate of gastroschisis was 2.3 per 10,000 births with no significant increase observed from 1976 through 2000. The rate of gastroschisis was six times higher among teenage mothers compared with mothers > or =25 years of age. Affected infants born to teenage mothers were less likely to be born to Black mothers compared to White mothers (rate ratio [RR], 0.4; 95% confidence interval [CI], 0.2-0.6). This was also true for mothers 20-24 years of age (RR, 0.5; 95% CI, 0.3-0.8) but not for mothers 25 years of age or older (RR, 1.6; 95% CI, 0.9-2.7). CONCLUSIONS: An increase in the rate of gastroschisis was observed in the mid-1970s, but no temporal trend has been observed since that time. In light of recent reports of an increasing prevalence of gastroschisis in the United States, continued monitoring of this birth defect is warranted.

Adult↗

PubMed2005

Hypospadias and maternal exposures to cigarette smoke.

The few previous studies of hypospadias and smoking have suggested either no association or a reduced risk. This study, which uses data from the National Birth Defects Prevention Study, a multi-state, population-based case-control study, includes data on males born with severe hypospadias (i.e. the urethra opens at the penile shaft, scrotum or perineum) from 1997 to 2000. Non-malformed, liveborn male controls were selected randomly from birth certificates or from birth hospitals. Maternal interviews were completed by telephone with 453 case mothers and 1267 control mothers. Maternal smoking was not associated with hypospadias risk. For example, during the third month of pregnancy, smoking < 0.5 pack/day had an odds ratio (OR) of 1.1 [95% CI 0.6, 1.9]; 0.5 pack/day, 0.6 [0.4, 1.1]; and > or = 1 pack/day, 0.8 [0.4, 1.6]. Exposure to any secondhand smoke at home during the third month of pregnancy showed an OR of 0.6 [95% CI 0.4, 1.0], and exposure at work or school, an OR of 0.7 [0.5, 1.1]. Similar risks were observed for other months during the periconceptional period, and adjustment for several potential confounders did not substantially alter results. This analysis does not confirm a recent report suggesting that maternal smoking is associated with a reduced risk of having offspring with hypospadias.

Adult↗

PubMed2005

The cost effectiveness of universal versus selective newborn screening for sickle cell disease in the US and the UK: a critique.

We reviewed several cost-effectiveness analyses that modelled the costs and yield of newborn screening for sickle cell disease (SCD) in the US and the UK and discuss the ways in which newborn screening policies in each country evolved with regard to the results of the analyses. Each of the reviewed studies compared the projected cost of universal screening with that of selective screening of children from specific ethnic groups. Despite variability in assumptions, the studies concurred that universal screening in areas with low SCD prevalence would result in a higher cost per case detected, compared with selective screening of children in high-risk ethnic groups. Investigators expressed differing opinions about the economic justification of universal screening, which reflected differences in the understanding of cost effectiveness and in how study questions were framed. Ultimately, policy makers in both countries decided in favour of universal screening, which appears to reflect a growing consensus that ethnically targeted newborn screening is not an acceptable public health strategy. One way to interpret this outcome is that considerations of equity and logistics, including potential stigmatisation, missed cases, and the perceived difficulty and discomfort in ascertaining ethnicity or in separating specimens, trumped economic calculations regarding the relative efficiency of targeted screening. It is not the case that policy makers explicitly favoured equity over economic optimisation; rather, they appear to have given more credence and value to the expert opinion of screening specialists than to the results of economic analyses.

Anemia, Sickle Cell↗

PubMed2004

Renal defects and limb deficiencies in 197 infants: is it possible to define the "acrorenal syndrome"?

Dieker and Opitz in 1969 described the simultaneous occurrence of limb deficiencies (LDs) and renal anomalies (RAs) in three patients. Curran and Curran introduced in 1972 the term "acrorenal syndrome." Since then, the term "acrorenal syndrome" is used occasionally, but a well-circumscribed definition has never been established. On the other hand, the concept of an acrorenal polytopic developmental field defect was postulated by Opitz and others to explain the association between RAs and LDs. We undertook this study to investigate whether this acrorenal "syndrome" could be identified in a large group of cases with congenital RAs and a limb deficiency. Eleven birth defect registries that are part of the International Clearinghouse for Birth Defects Monitoring (i.e., registries of ICBDMS in Finland, France [Paris and Strasbourg], Israel, Italy [IPIMC and Emilia Romagna], Mexico, Northern Netherlands, South America, Spain, and the United States [Atlanta]) provided data on 815 infants who had a LD and at least one other major congenital anomaly. These 815 cases were ascertained among 5,163,958 births. We selected the 197 cases who had both a limb deficiency and a renal or urinary tract anomaly. In about 50% of these cases a diagnosis or a recognized phenotype was reported, with chromosomal aberrations and VACTERL being most frequent. In the group with no diagnosis or recognized phenotype (95 cases), we looked for (a) clustering of specific types of LDs and RAs, and (b) for clustering of associated anomalies, in order to find evidence for and be able to define better the term "acrorenal syndrome." Our data suggest that an association exists between LDs and RAs, possibly explained by the concept of the acrorenal polytopic developmental field defect. However, our dataset does not yield evidence for the existence of one distinct "syndrome," defined as a pattern of causally related multiple anomalies. Therefore, use of the term "acrorenal syndrome" should be avoided.

Abnormalities, Multiple↗

PubMed2004

Vitamin supplements and the risk for congenital anomalies other than neural tube defects.

Randomized trials, supported by many observational studies, have shown that periconceptional use of folic acid, alone or in multivitamin supplements, is effective for the primary prevention of neural tube defects (NTDs). Whether this is true also for other congenital anomalies is a complex issue and the focus of this review. It is useful to consider the evidence not only for specific birth defects separately but, importantly, also for all birth defects combined. For the latter, the Hungarian randomized clinical trial indicated, for periconceptional multivitamin use, a reduction in the risk for all birth defects (odds ratio (OR) = 0.53, 95% confidence interval (CI) = 0.35-0.70), even after excluding NTDs (OR = 0.53, 95% CI = 0.38-0.75). The Atlanta population-based case-control study, the only large observational study to date on all major birth defects, also found a significant risk reduction for all birth defects (OR = 0.80, 95% CI = 0.69-0.93) even after excluding NTDs (OR = 0.84, 95% CI = 0.72-0.97). These and other studies also evaluated specific anomalies, including those of the heart, limb, and urinary tract, as well as orofacial clefts, omphalocele, and imperforate anus. For cardiovascular anomalies, two studies were negative, whereas three, including the randomized clinical trial, suggest a possible 25-50% overall risk reduction, more marked for some conotruncal and septal defects. For orofacial clefts, six of seven case-control studies suggest an apparent reduced risk, which could vary by cleft type and perhaps, according to some investigators, by pill dosage. For limb deficiencies, three case-control studies and the randomized trial estimated approximately a 50% reduced risk. For urinary tract defects, three case-control studies and the randomized trial reported reduced risks, as did one study of nonsyndromic omphalocele. All these studies examined multivitamin supplement use. With respect to folic acid alone, a reduced rate of imperforate anus was observed among folic acid users in China. We discuss key gaps in knowledge, possible avenues for future research, and counseling issues for families concerned about occurrence or recurrence of these birth defects.

Adult↗

PubMed2003

Guidelines for case classification for the National Birth Defects Prevention Study.

BACKGROUND: Previous studies have suggested that etiologic heterogeneity may complicate epidemiologic analyses designed to identify risk factors for birth defects. Case classification uses knowledge of embryologic and pathogenetic mechanisms to make case groups more homogeneous and is important to the success of birth defects studies. METHODS: The goal of the National Birth Defects Prevention Study (NBDPS), an ongoing multi-site case-control study, is to identify environmental and genetic risk factors for birth defects. Information on environmental risk factors is collected through an hour-long maternal interview, and DNA is collected from the infant and both parents for evaluation of genetic risk factors. Clinical data on infants are reviewed by clinical geneticists to ensure they meet the detailed case definitions developed specifically for the study. To standardize the methods of case classification for the study, an algorithm has been developed to guide NBDPS clinical geneticists in this process. RESULTS: Methods for case classification into isolated, multiple, and syndrome categories are described. Defects considered minor for the purposes of case classification are defined. Differences in the approach to case classification for studies of specific defects and of specific exposures are noted. CONCLUSIONS: The case classification schema developed for the NBDPS may be of value to other clinicians working on epidemiologic studies of birth defects etiology. Consideration of these guidelines will lead to more comparable case groups, an important element of careful studies aimed at identifying risk factors for birth defects.

Adult↗

PubMed2003

Survival of infants diagnosed with encephalocele in Atlanta, 1979-98.

This study aimed to evaluate the survival of a cohort of liveborn infants diagnosed with encephalocele during a 20-year period and the variation of such survival by selected demographic and clinical characteristics. We reviewed data from the Metropolitan Atlanta Congenital Defects Program (MACDP) to ascertain all live births diagnosed with encephalocele (n = 83) from 1979 to 1998. Of these, 66 (79%) had isolated defects. Among 70 liveborn infants with site of the defect specified, 50 were classified as having posterior and 20 with anterior defects. To identify their vital status, we used data from MACDP hospital records and vital records from the State of Georgia supplemented by linking registry data with the National Death Index from 1979 to 1999. Among children with encephalocele, 76.0% of the deaths (19/25) occurred during the first day of life. The survival probability to 1 year of age was 70.8%[95% confidence intervals (CI) 60.9, 80.7] and to 20 years of age was 67.3%[95% CI 55.7, 78.8]. In multivariable analysis, factors associated with increased mortality were low birthweight (<2500 g) [relative risk (RR) 5.18; 95% CI 2.13, 12.63], presence of multiple defects (RR 2.82; 95% CI 1.19, 6.69) and black race (RR 2.36; 95% CI 0.95, 5.85). Overall survival for infants with multiple defects (41.2%) was significantly poorer than survival among those with isolated defects (74.3%). A 70% decrease in risk of mortality was observed among infants born with encephalocele during 1989-98 compared with those born during 1979-88, but this decrease was evident only among cases with low birthweight (RR 0.29; 95% CI 0.01, 0.90). This study highlights the prognostic importance of multiple defects and low birthweight for infants with encephalocele and identifies a statistically significant difference in survival by race. This information is useful for clinicians and families who must plan for the long-term care of affected children.

Abnormalities, Multiple↗

PubMed2002

Trends in neural tube defect prevalence, folic acid fortification, and vitamin supplement use.

In this review, the authors analyze international trends in rates of neural tube defects (NTDs) during the past three decades. Population-based data sources include the Metropolitan Atlanta Congenital Defects Program and other US birth defects surveillance programs in the National Birth Defects Prevention Network, the International Clearinghouse for Birth Defects Monitoring Systems, and US and Canadian vital records. To analyze trends in vitamin consumption, we review data from the US National Health and Nutrition Examination Surveys and international surveys of multivitamin use. We discuss the role of factors associated with historic and continuing declines in NTD rates in most countries. These factors include the introduction and increased utilization of prenatal diagnosis, recommendations for multivitamin use in women of childbearing age, and population-wide increases in blood folate levels that have occurred since food fortification was mandated. We also discuss research needs for further NTD prevention. This is a US government work. There are no restrictions on its use.

Adolescent↗

PubMedDate not supplied

Characterization of beta-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS.

PURPOSE: A population-based cohort from three state newborn screening programs was used to describe beta-globin gene cluster variation. METHODS: Blood spots from newborns homozygous for HbS were genotyped for five restriction fragment length polymorphisms (RFLPs) to construct beta-globin haplotypes. Haplotype distributions were compared by race/ethnicity and sex. Expected heterozygosities were calculated and compared with observed heterozygosities. RESULTS: Haplotype distributions did not differ between sexes for either blacks or Hispanics. Neither racial/ethnic group deviated from Hardy-Weinberg equilibrium; however, Hispanics had higher heterozygosity at two RFLPs compared with blacks. CONCLUSION: The differences between populations probably reflect recent migration and admixture rather than selection.

Anemia, Sickle Cell↗