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Julianne S Collins

Publications and source records attributed to Julianne S Collins.

14 recordsLinked to original sources
PubMed2006

National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001.

BACKGROUND: In the United States, birth defects affect approximately 3% of all births, are a leading cause of infant mortality, and contribute substantially to childhood morbidity. METHODS: Population-based data from the National Birth Defects Prevention Network were combined to estimate the prevalence of 21 selected defects for 1999-2001, stratified by surveillance system type. National prevalence was estimated for each defect by pooling data from 11 states with active case-finding, and adjusting for the racial/ethnic distribution of US live births. We also assessed racial/ethnic variation of the selected birth defects. RESULTS: National birth defect prevalence estimates ranged from 0.82 per 10,000 live births for truncus arteriosus to 13.65 per 10,000 live births for Down syndrome. Compared with infants of non-Hispanic (NH) white mothers, infants of NH black mothers had a significantly higher birth prevalence of tetralogy of Fallot, lower limb reduction defects, and trisomy 18, and a significantly lower birth prevalence of cleft palate, cleft lip with or without cleft palate, esophageal atresia/tracheoesophageal fistula, gastroschisis, and Down syndrome. Infants of Hispanic mothers, compared with infants of NH white mothers, had a significantly higher birth prevalence of anencephalus, spina bifida, encephalocele, gastroschisis, and Down syndrome, and a significantly lower birth prevalence of tetralogy of Fallot, hypoplastic left heart syndrome, cleft palate without cleft lip, and esophageal atresia/tracheoesophageal fistula. CONCLUSIONS: This study can be used to evaluate individual state surveillance data, and to help plan for public health care and educational needs. It also provides valuable data on racial/ethnic patterns of selected major birth defects.

Black or African American↗
PubMed2006

Quantitative standards for fetal and neonatal autopsy.

Growth curves are essential for determining whether growth parameters lie within normal ranges. In the case of fetal and neonatal autopsy, relevant data are scattered across many publications, and few sources examine a large enough sample to be considered definitive. To ameliorate these inadequacies, regressions were created incorporating data from multiple sources both to increase accuracy and to condense available data into a single standard. When measurements were not well studied, the best available published standards are given. These regressions provide a valuable tool for clinicians who need to understand the significance of measurements obtained during autopsy.

Anthropometry↗
PubMed2006

Survival of infants with neural tube defects in the presence of folic acid fortification.

OBJECTIVE: Neural tube defects (NTDs) are preventable through preconceptional and periconceptional folic acid intake. Although decreases in the prevalence of NTDs have been reported since folic acid fortification of United States grain products began, it is not known whether folic acid plays a role in reducing the severity of occurring NTDs. Our aim was to determine whether survival among infants born with spina bifida and encephalocele has improved since folic acid fortification and to measure the effects of selected maternal, pregnancy, and birth characteristics on first-year (infant) survival rates. METHODS: A retrospective cohort study was conducted and included 2841 infants with spina bifida and 638 infants with encephalocele who were born between 1995 and 2001 and were registered in any of 16 participating birth defects monitoring programs in the United States. First-year survival rates for both spina bifida and encephalocele cohorts were measured with Kaplan-Meier estimation; factors associated with improved chances of first-year survival, including birth before or during folic acid fortification, were measured with Cox proportional-hazards regression analysis. RESULTS: Infants with spina bifida experienced a significantly improved first-year survival rate of 92.1% (adjusted hazard ratio: 0.68; 95% confidence interval: 0.50-0.91) during the period of mandatory folic acid fortification, compared with a 90.3% survival rate for those born before fortification. Infants with encephalocele had a statistically nonsignificant increase in survival rates, ie, 79.1% (adjusted hazard ratio: 0.76; 95% confidence interval: 0.51-1.13) with folic acid fortification, compared with 75.7% for earlier births. CONCLUSIONS: Folic acid may play a role in reducing the severity of NTDs in addition to preventing the occurrence of NTDs. This phenomenon contributes to our understanding of the efficacy of folic acid. Additionally, as survival of NTD-affected infants improves, health care, education, and family support must expand to meet their needs.

Dietary Supplements↗
PubMed2005

Changes in the birth prevalence of selected birth defects after grain fortification with folic acid in the United States: findings from a multi-state population-based study.

BACKGROUND: Observational studies and clinical trials have suggested that periconceptional use of folic acid can reduce the risk of birth defects other than neural tube defects (NTDs). Using data reported by states to the National Birth Defects Prevention Network, we examined whether folic acid fortification might have decreased the prevalence of other specific birth defects. METHODS: For each of 16 birth defect categories selected for study, birth prevalence for two time periods was calculated with data submitted from a number of states in 1995-1996 ("pre-fortification") and 1999-2000 ("post-fortification"). Changes in birth prevalence between the two time periods were assessed by calculating prevalence ratios and 95% confidence intervals for each defect, and compared by maternal race/ethnicity and availability of prenatally diagnosed cases. RESULTS: We confirmed previously reported reductions in the birth prevalence of NTDs. In addition, we found modest, yet statistically significant, decreases in the birth prevalence for transposition of the great arteries(12%), cleft palate only (12%), pyloric stenosis (5%), upper limb reduction defects (11%), and omphalocele (21%). More substantial subgroup decreases were observed for renal agenesis among programs that conduct prenatal surveillance (28%), for common truncus among Hispanics (45%), and for upper limb reduction defects among Hispanics (44%). There were modest yet significant increases in the prevalence of obstructive genitourinary defects (12%) and Down syndrome (7%), but not among programs conducting prenatal surveillance for these defects. CONCLUSIONS: These results suggest some modest benefit from the folic acid fortification on the prevalence of a number of non-NTD birth defects.

Congenital Abnormalities↗
PubMed2005

Prevalence, incidence, and etiology of epilepsies in rural Honduras: the Salamá Study.

PURPOSE: Determination of epilepsy etiology in population-based studies is difficult because of the high cost of diagnostic tests. However, cost-effectiveness may be proven if preventive public-health strategies can be established from the test results. We report an epilepsy population-based study using clinical and laboratory techniques. METHODS: A medical team administered an epilepsy survey to 88% of the residents by census in the rural county of Salamá, Honduras. Ninety of 100 participants identified with active epilepsy underwent a neurologic examination, video-electroencephalography (video-EEG), brain computed tomography (CT) scan, and serum enzyme-linked immunoelectrotransfer blot (EITB) for cysticercosis. Final diagnoses were based on the International League Against Epilepsy classifications for seizures and epilepsy syndromes. Combined epidemiologic, clinical, video-EEG, neuroimaging, and serum EITB assays were used for the diagnosis of epilepsy etiologies. RESULTS: Among 6,473 residents surveyed, 151 persons with epilepsy (prevalence rate, 23.3/1,000) were identified, 100 of whom had active epilepsy (15.4/1,000) on the prevalence day. Incidence was determined to be 92.7/100,000. Partial seizures with or without secondary generalization were common (92.2%). Symptomatic epilepsy (62%) was primarily due to neurocysticercosis (37%), perinatal brain damage (8%), post-traumatic (3%), and poststroke (2%). Eight percent were idiopathic, and 30% were cryptogenic (unknown cause). CONCLUSIONS: Symptomatic epilepsies primarily explained the high prevalence and incidence of epilepsy in Salamá. Integration of video-EEG and brain CT scan with clinical-epidemiologic evaluation was critical for determination of epilepsy etiology. Establishment of specific programs for continuation of epidemiologic surveillance, education, intervention, and long-term follow-up will benefit the Salamá region.

Adolescent↗
PubMed2004

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.

Brain↗
PubMed2004

Neural tube defects and associated anomalies in South Carolina.

BACKGROUND: Neural tube defects (NTDs) occur as isolated malformations and in the company of other birth defects. This study was conducted to determine the frequency of coexisting anomalies and the relationship between them. METHODS: Since 1992, NTDs have been identified through prenatal and postnatal surveillance activities in South Carolina. The type of NTD and presence of associated anomalies were determined by prenatal ultrasound, postnatal and/or postmortem examination. RESULTS: During the ten-year period from 1992 to 2002, 564 NTDs were identified by the surveillance system. Seventeen percent of NTDs (98/564) had associated malformations. In approximately half (n = 51) of these cases, the NTDs and associated anomalies were components of a recognizable syndrome. In the remaining cases (n = 47), no syndrome was identified or suspected, but the associated anomalies were believed in most instances to be secondary to space limitation or neural crest abnormalities imposed by the NTD. CONCLUSION: Seventeen percent of NTDs in South Carolina have associated malformations. In most cases, the associated anomalies are considered either components of a multiple malformation syndrome or secondary to the NTD.

Adult↗
PubMed2003

Bootstrap calibration of TRANSMIT for informative missingness of parental genotype data.

Informative missingness of parental genotype data occurs when the genotype of a parent influences the probability of the parent's genotype data being observed. Informative missingness can occur in a number of plausible ways and can affect both the validity and power of procedures that assume the data are missing at random (MAR). We propose a bootstrap calibration of MAR procedures to account for informative missingness and apply our methodology to refine the approach implemented in the TRANSMIT program. We illustrate this approach by applying it to data on hypertensive probands and their parents who participated in the Framingham Heart Study.

Adult Children↗
PubMed2003

Genetic syndromes among individuals with mental retardation.

Individuals with mental retardation more commonly have malformations and other structural anomalies than individuals without mental retardation. In many cases, the associated anomalies comprise recognizable syndromes caused by genetic or environmental insults. To co-occurrence of structural anomalies with mental retardation thus assists in the diagnostic evaluation, particularly in infants and young children. The coexistence of structural and mental abnormalities also suggests that both originated in the embryonic period of development.

Adolescent↗
PubMed2003

Results of a high-resolution genome screen of 437 Alzheimer's disease families.

Alzheimer's disease (AD) is a devastating neurodegenerative disorder of late life with complex inheritance. Mutations in three known genes lead to the rare early-onset autosomal dominant form of AD, while a common polymorphism (epsilon 4) in the gene encoding apolipoprotein E (APOE ) is a risk factor for more typical late-onset (>60 years) AD. A recent study concluded that there are up to four additional genes with an equal or greater contribution to the disease. We performed a 9 cM genome screen of 437 families with AD, the full National Institute of Mental Health (NIMH) sample, which has been carefully ascertained, evaluated and followed by our group over the last decade. Performing standard parametric and non-parametric linkage analyses, we observed a 'highly significant' linkage peak by Lander and Kruglyak criteria on chromosome 19q13, which probably represents APOE. Twelve additional locations-on 1q23, 3p26, 4q32, 5p14, 6p21, 6q27, 9q22, 10q24, 11q25, 14q22, 15q26 and 21q22-met criteria for 'suggestive' linkage [i.e. two-point lod score (TLS) >/=1.9 and/or multipoint lod score (MLS) >/=2.2] in at least one of our analyses. Although some of these will surely prove to be false positives, these linkage signals should provide a valuable framework for future studies aimed at identifying additional susceptibility genes for late-onset AD.

Aged↗
PubMed2003

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 A1 (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.

Adolescent↗
PubMed2002

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.

Adolescent↗
PubMedDate not supplied

Prevalence of aneuploidies in South Carolina in the 1990s.

PURPOSE: Folate insufficiency due to nutritional deficiency or folate processing gene mutations has been proposed as a trisomy 21 risk factor. This study examined the possibility that increased folic acid intake among women of childbearing age may decrease the prevalence of trisomy 21 and other aneuploidies. METHODS: The prevalence of aneuploidies from 1990 through 1999 was compared with folic acid use in women of childbearing age in South Carolina. RESULTS: Folic acid use and the prevalence of all aneuploidies significantly increased during this period. CONCLUSION: Increased folic acid utilization in South Carolina was not associated with decreased prevalence of trisomy 21 or other aneuploidies.

Aneuploidy↗