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Biomedical subjects

Cynthia A Moore

Publications and source records attributed to Cynthia A Moore.

16 recordsLinked to original sources
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

Reported multivitamin consumption and the occurrence of multiple congenital anomalies.

The purpose of this case-control study was to determine whether multivitamin use is associated with the occurrence of multiple congenital anomalies (MCA). MCA case-infants were infants with two or more major birth defects affecting at least two different organ systems, with no recognized chromosome abnormality or single gene disorder. Control-infants were a random sample of live births with no major birth defects from the same population (metropolitan Atlanta) and time period (1993-1997) as the case-infants. Exposure to multivitamins, cereals, and supplements was ascertained from a maternal telephone interview and classified based on folic acid content. We compared women who used multivitamins three or more times per week with women who were not exposed to vitamins/cereals/supplements during the periconceptional period (3 months before pregnancy through the first trimester), adjusting for maternal age, education, race/ethnicity, first degree family history of a major birth defect, pre-pregnancy maternal body mass index, gravidity, and first trimester alcohol use and cigarette smoking. Periconceptional multivitamin use was associated with MCA among all infants (adjusted odds ratio [aOR]=2.4, 95% confidence interval [CI] 0.9-6.7), and especially when analysis was limited to those with no family history of major defects (aOR=4.0, 95% CI 1.3-12.8). MCA-infants with urinary obstructive defects were more common among multivitamin-exposed infants than among unexposed infants, but this defect did not occur within a consistent pattern of defects. While these findings provide some support for one previous study, the interpretation remains unclear given the proven protective effect of multivitamins containing folic acid on isolated neural tube defects and possibly other types of defects.

Abnormalities, Drug-Induced↗
PubMed2005

From genetics to genomics: using gene-based medicine to prevent disease and promote health in children.

The remarkable achievements of the Human Genome Project promise great opportunities for disease prediction, treatment, and prevention. In this paper, we discuss the continuum of genetic variation as medical practice begins to shift focus from the study of single genes (genetics) to the study of the entire genome (genomics). Pediatricians should anticipate an influx of genetic information and will need to become as facile in interpreting this type of predictive information as they are with other types of medical data, while recognizing the unique ethical, legal, and social implications of genetic testing in children. We discuss an approach to assist pediatricians in decision-making that emphasizes the need for knowledge about the analytic performance of genetic tests, their validity in predicting health outcomes, and the utility of the genetic information in improving health and preventing disease.

Adolescent↗
PubMed2004

Applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic disorders.

Primary immunodeficiency (PI) diseases are a group of primarily single-gene disorders of the immune system. Approximately 100 separate PI diseases have been described, but <20 probably account for >90% of cases. Although diverse, PI diseases share the common feature of susceptibility to infection and result in substantial morbidity and shortened life spans. Most important, prompt diagnosis and treatment can now lead to life-saving treatment and result in marked improvements in the quality and length of life for persons with PI diseases. In November 2001, a workshop was convened by CDC in Atlanta, Georgia, to discuss ways to improve health outcomes among persons with PI disease. A multidisciplinary panel of persons knowledgeable in PI diseases and public health met to identify and discuss public health strategies that can be applied to PI diseases and possibly for other genetic disorders. A systematic assessment based on the established public health framework was applied to the growing group of PI diseases, whose diverse genetic mutations span multiple components of the immune system but all lead to increased incidence and severity of infections. During the meeting, specialists in clinical immunology, public health, genetics, pediatrics, health communication, and ethics from state and federal agencies, academic centers, professional organizations, and advocacy foundations discussed the four components of the public health framework as they relate to PI diseases. These four components include 1) public health assessment (application of traditional public health methods to assess the occurrence and impact of PI diseases on communities); 2) population-based interventions (development, implementation, and evaluation of screening tests administered to newborns and clinical algorithms for early recognition of symptomatic persons to facilitate the earliest possible diagnosis and treatment for PI diseases); 3) evaluation of screening and diagnostic tools (to ensure their quality and appropriateness for identification of patients with PI diseases); and 4) communication (communication with and information dissemination to health-care providers and the public to facilitate prompt and appropriate diagnosis and intervention). The working group's deliberations focused on challenges and opportunities, priority research questions, and recommendations for future action for these four components. These recommendations, developed by workshop participants, will be useful to medical and public health professionals who are evaluating methods to increase recognition of PI diseases and other genetic disorders.

Adolescent↗
PubMed2004

Can we ensure the safe use of known human teratogens? Introduction of generic isotretinoin in the US as an example.

The prescription of known teratogenic medications requires a careful balance between allowing women access to medications that they might need and avoiding unnecessary exposure to these medications during pregnancy because of their devastating fetal effects. Isotretinoin, a potent human teratogen, is of particular concern because of its widespread use among reproductive-aged women and the dramatic increase in use from 1992 through 2000. A revised risk management system was implemented in 2002 because of concerns about the continued occurrence of isotretinoin-exposed pregnancies. However, the recent approval of three generic versions of isotretinoin in the US has further complicated risk management and raises concerns that use might increase further if the lower cost of generics serves to increase accessibility. There are now four separate isotretinoin risk management systems in the US, each with its own distinct packaging, though the requirements for and substance of each are identical. Some additional concrete steps could be taken to minimise any unnecessary use of isotretinoin and help allow an adequate assessment of the current risk management systems. In addition to being familiar with and following all aspects of the current risk management system, physicians could choose to limit the use of isotretinoin to those who meet the labelled indications in order to reduce the number of exposed pregnancies. All four companies currently marketing isotretinoin in the US could jointly and voluntarily establish a consolidated, mandatory registration and follow-up of all women of reproductive potential who receive an isotretinoin prescription. Mandatory registration has many challenges, but it could allow a clear accounting of the total number of women for whom follow-up information is and is not available. Although the companies cannot be legally compelled to use a consolidated approach, the use of a single registry for the originator's product and all generic brands would allow identification of duplicates and also avoid the confusion that is introduced by providing materials that not only look different, but also have different addresses, contact information and names for participation in follow-up surveys. This is particularly important because women might take more than one version of isotretinoin during a single course of therapy or might receive a different programme's materials from their doctor than from the pharmacy. Though the introduction of generic versions of isotretinoin further complicates risk management, the companies marketing isotretinoin have an opportunity to work together to demonstrate their commitment to both limit the occurrence of exposed pregnancies and conduct a meaningful evaluation of the occurrence of pregnancies exposed to isotretinoin.

Abnormalities, Drug-Induced↗
PubMed2003

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.

Most individuals with Williams syndrome (WS) have a 1.6 Mb deletion in chromosome 7q11.23 that encompasses the elastin (ELN) gene, while most families with autosomal dominant supravalvar aortic stenosis (SVAS) have point mutations in ELN. The overlap of the clinical phenotypes of the two conditions (cardiovascular disease and connective tissue abnormalities such as hernias) is due to the effect of haploinsufficiency of ELN. SVAS families often have affected individuals with some WS facial features, most commonly in infancy, suggesting that ELN plays a role in WS facial gestalt as well. To find other genes contributing to the WS phenotype, we studied five families with SVAS who have small deletions in the WS region. None of the families had mental retardation, but affected family members had the Williams Syndrome Cognitive Profile (WSCP). All families shared a deletion of LIMK1, which encodes a protein strongly expressed in the brain, supporting the hypothesis that LIMK1 hemizygosity contributes to impairment in visuospatial constructive cognition. While the deletions from the families nearly spanned the WS region, none had a deletion of FKBP6 or GTF2I, suggesting that the mental retardation seen in WS is associated with deletion of either the centromeric and/or telomeric portions of the region. Comparison of these five families with reports of other individuals with partial deletions of the WS region most strongly implicates GTF2I in the mental retardation of WS.

Adolescent↗
PubMed2003

Descriptive epidemiology of infantile cataracts in metropolitan Atlanta, GA, 1968-1998.

BACKGROUND: Infantile cataract is an important cause of childhood visual impairment. Surgery before 6 weeks of age is recommended for optimal visual outcome. Description of the epidemiologic characteristics of cataracts is important for an improved understanding of the condition. OBJECTIVES: To identify at-risk populations and facilitate successful treatment of patients with infantile cataracts. METHODS: Infants with cataracts diagnosed in the first year of life were identified using the Metropolitan Atlanta Congenital Defects Program, a birth defects surveillance program with active methods of case ascertainment, for the years 1968-1998. Several factors were analyzed, including year of birth, sex, race, maternal age, plurality (single vs multiple gestation), gestational age, birth weight, laterality, seasonality, and age at diagnosis. RESULTS: A total of 199 infants with cataracts were identified, for a rate of 2.03 per 10 000 births. In 117 infants (59%), cataracts occurred as an isolated defect; in 43 infants (22%), cataracts occurred as part of a syndrome; and in 39 infants (20%), additional, unrelated, major birth defects were also present. Rates were higher for low-birth-weight infants (those weighing <1500 g; risk ratio [RR], 6.01; 95% confidence interval [CI], 3.83-9.43) and preterm infants (RR, 1.70; 95% CI, 1.21-2.40). Of the cases that occurred as an isolated defect, 38% were diagnosed after 6 weeks. CONCLUSIONS: This population-based study provides 31 years of data from a diverse US population and allows identification of risk factors for infantile cataracts. The finding that a number of infants with cataracts continue to have their conditions diagnosed after 6 weeks of age emphasizes the need for direct ophthalmoscopic examination of the red reflex in the newborn period to facilitate early detection and improve outcomes.

Abnormalities, Multiple↗
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

Subfertility and prepregnancy overweight/obesity: possible interaction between these risk factors in the etiology of congenital renal anomalies.

BACKGROUND: Maternal subfertility and high body mass index (BMI) are both associated with adverse reproductive outcomes, including some birth defects. One study reported an association between subfertility and renal anomalies (Li, 1999). METHODS: We defined subfertility as the mother's report that she sought fertility treatment from a doctor/clinic, and high BMI as a prepregnancy BMI > or = 25. We included 169 infants with renal anomalies (renal agenesis [n = 41], obstructive defects [n = 117], and duplication defects [n = 11]) and 2763 infants without defects who were born in 1968-1980 in metropolitan Atlanta, after excluding mothers who reported diabetes. Conditional logistic regression (matching variables: race, birth hospital, and birth period) was used to obtain effect estimates (adjusted for maternal age and gestational age). RESULTS: Subfertility was more common among case-mothers (11.8%) than control-mothers (7.8%), high BMI was similar among case-mothers (11.2%) and control-mothers (10.9%), and joint exposure (subfertility and high BMI) was reported by 3% case-mothers and 0.7% of control-mothers. Joint exposure to subfertility and high BMI was associated with renal anomalies (odds ratio [OR] = 5.8; 95% confidence interval [CI] = 2.0-16.3). All case-mothers who reported a joint exposure had infants with obstructive renal anomalies (OR = 8.5; 95% CI = 2.9-24.7). There was no association observed for either exposure alone (subfertility and low BMI, or high BMI and no subfertility) for either all renal anomalies or obstructive defects. CONCLUSIONS: Women who are overweight/obese and experience subfertility may be more likely to have an infant with an obstructive renal anomaly. Further exploration of possible biologic mechanisms is needed.

Adult↗
PubMed2003

Maternal febrile illnesses, medication use, and the risk of congenital renal anomalies.

BACKGROUND: Renal anomalies occur in about three infants per 1000 live births and have been associated with several environmental risk factors. Researchers have yet to assess the effect of maternal febrile illnesses on renal anomalies, even though febrile illnesses have been associated with other birth defects. Our objective was to determine whether maternal illness, fever, or medication use during the first trimester of pregnancy is associated with the occurrence of renal anomalies. METHODS: In this population-based case-control study, we evaluated 192 infants with renal anomalies (renal agenesis [n = 44], obstructive defects [n = 134], and renal duplication defects [n = 14]) and 3029 infant without birth defects, all of whom were born in metropolitan Atlanta, Georgia, from 1968 through 1980. Maternal illness was defined as reported flu-like illness and/or episodic illness during the first trimester. RESULTS: Our adjusted multivariate analyses showed that among the 192 case-infants, 38 had mothers with an illness (adjusted odds ratio [AOR], 1.71; 95% confidence interval [CI], 1.15-2.52), 20 had mothers who reported a fever (AOR, 1.80; 95% CI, 1.07-3.02) and 26 had mothers who reported taking medication (AOR, 1.69; 95% CI, 1.07-2.68). Fifteen mothers reported a fever and medication use (AOR, 1.90; 95% CI, 1.05-3.45). Nonprescription aspirin-containing medication use showed the strongest association (AOR, 3.45; 95% CI, 1.36-8.75) with renal anomalies. CONCLUSIONS: Our data suggest that maternal exposure to illness, fever, and medication (particularly aspirin) may increase the risk of congenital renal anomalies.

Analgesics, Non-Narcotic↗
PubMed2003

A population-based birth defects surveillance system in the People's Republic of China.

We describe a unique birth defects surveillance system in the People's Republic of China. The system was instituted in March 1992 as a component of an evaluation of the effectiveness of a public health campaign using periconceptional folic acid supplementation to prevent neural tube defects, and currently surveys birth cohorts of approximately 150 000 infants per year. Local health care providers collect information in the form of detailed written descriptions and photographs of affected infants. The system allows for detection of birth defects at the local level with later definitive classification and coding; however, information is limited to structural anomalies that are visible on physical examination. This birth defects surveillance system provides an extensive database of infants with major and minor external structural anomalies, including the unique feature of a photographic record for most cases. These data can be used for aetiological studies, descriptive epidemiology and identification of unusual trends.

China↗
PubMed2003

Maternal obesity and risk for birth defects.

OBJECTIVE: Several studies have shown an increased risk for neural tube defects associated with prepregnancy maternal obesity. Because few recent studies have examined the relation between maternal prepregnancy obesity and overweight and other birth defects, we explored the relation for several birth defects and compared our findings with those of previous studies. METHODS: We conducted a population-based case-control study of several selected major birth defects using data from the Atlanta Birth Defects Risk Factor Surveillance Study. Mothers who delivered an infant with and without selected birth defects in a 5-county metropolitan Atlanta area between January 1993 and August 1997 were interviewed. Maternal body mass index (BMI) was calculated from self-reported maternal prepregnancy weight and height. Women with known preexisting diabetes were excluded. The risks for obese women (BMI > or =30) and overweight women (BMI 25.0-29.9) were compared with those for average-weight women (BMI 18.5-24.9). RESULTS: Obese women were more likely than average-weight women to have an infant with spina bifida (unadjusted odds ratio [OR]: 3.5; 95% confidence interval [CI]: 1.2-10.3), omphalocele (OR: 3.3; 95% CI: 1.0-10.3), heart defects (OR: 2.0; 95% CI: 1.2-3.4), and multiple anomalies (OR: 2.0; 95% CI: 1.0-3.8). Overweight women were more likely than average-weight women to have infants with heart defects (OR: 2.0; 95% CI: 1.2-3.1) and multiple anomalies (OR: 1.9; 95% CI: 1.1-3.4). CONCLUSIONS: Our study confirmed the previously established association between spina bifida and prepregnancy maternal obesity and found an association for omphalocele, heart defects, and multiple anomalies among infants of obese women. We also found an association between heart defects and multiple anomalies and being overweight before pregnancy. A higher risk for some birth defects is yet another adverse pregnancy outcome associated with maternal obesity. Obesity prevention efforts are needed to increase the number of women who are of healthy weight before pregnancy.

Abnormalities, Multiple↗
PubMed2003

Sharing prescription medication among teenage girls: potential danger to unplanned/undiagnosed pregnancies.

OBJECTIVE: The objective of this study was to determine how often children and adolescents share prescription medications and, because of teratogenic concerns, assess specific reasons why girls might engage in medication-sharing behaviors. METHODS: Data were collected as part of Youthstyles, a mail survey of children and adolescents 9 through 18 years of age (764 girls and 804 boys) about health issues, attitudinal variables, and media preferences. Information collected by the survey included the respondent's history of borrowing or sharing prescription medications, the frequency with which sharing occurred, the reasons why medications might be borrowed or shared, and who influences their decisions to borrow or share medication. RESULTS: A total of 20.1% of girls and 13.4% of boys reported ever borrowing or sharing medications. Of the girls surveyed, 15.7% reported borrowing prescription medications from others, and 14.5% reported sharing their prescription medication with someone else. The reported likelihood of sharing increased with age. Medication sharing or borrowing was not a "one time only" emergency use for many: 7.3% of girls 15 through 18 years of age had shared medications >3 times. Reasons that girls gave for why they would share medications included having a prescription for the same medicine (40.2%), getting the medication from a family member (33.4%), having the same problem as the person who had the medication (29%), or wanting something strong for pimples or oily skin (10.5%). CONCLUSIONS: Medication sharing is relatively common among children and adolescents and is more common among girls than boys. An adolescent who receives a medication via sharing does not receive the appropriate information about its actions and possible negative interactions with other medications or any other associated risks. Sharing potentially teratogenic drugs is of special concern. Many barriers exist to communicating the risk about teratogenic drugs to women and girls, particularly if they are not planning a pregnancy or are unaware that they are already pregnant. These findings suggest the need for basic research on issues related to the dangers of medication sharing and teratogenic risks, as well as the development of successful approaches to communicate these risks.

Adolescent↗
PubMed2002

Comparison of the molecular mass and optical properties of colored dissolved organic material in two rivers and coastal waters by flow field-flow fractionation.

Colored dissolved organic material (CDOM) is an important sunlight absorbing substance affecting the optical properties of natural waters. However, little is known about its structural and optical properties mainly due to its complex matrix and the limitation of the techniques available. A comparison of two southwestern Florida rivers [the Caloosahatchee River (CR) and the Shark River (SR)] was done in terms of molecular mass (MM) and diffusion coefficients (D). The novel technique Frit inlet/frit outlet-flow field-flow fractionation (FIFO-FIFFF) with absorbance and fluorescence detectors was used to determine these properties. The SR receives organic material from the Everglades. By contrast, the CR arises from Lake Okeechobee in central Florida, receiving anthropogenic inputs, farming runoff, and natural organics. Both rivers discharge to the Gulf of Mexico. Fluorescence identified, for both rivers, two different MM distributions in low salinity water samples: the first was centered at approximately 1.7 kDa (CR) and approximately 2 kDa (SR); the second centered at approximately 13 kDa for both rivers, which disappeared gradually in the river plumes to below detection limit in coastal waters. Absorbance detected only one MM distribution centered at approximately 2 kDa (CR) and 2.2-2.4 kDa (SR). Fluorescence in general peaked at a lower MM than absorbance, suggesting a different size distribution for fluorophores vs chromophores. A photochemical study showed that, after sunlight, irradiated freshwater samples have similar characteristics to more marine waters, including a shift in MM distribution of chromophores. The differences observed between the rivers in the optical characteristics, MM distributions, and D values suggest that the CDOM sources, physical, and photochemical degradation processes are different for these two rivers.

Adsorption↗