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C A Moore

Publications and source records attributed to C A Moore.

At least 19 recordsLinked to original sources
PubMed1998

Mitochondrial DNA rearrangements, including partial duplications, occur in young and old rat tissues.

Using polymerase chain reaction (PCR) with back-to-back primers, 85 different mitochondrial DNA (mtDNA) rearrangements, consisting of partial duplications or mini-circles, were detected in brain, liver, and heart tissue from Fischer 344 rats. The regions around the mitochondrial tRNALeu(UUR) gene, the cluster of three tRNA genes [His, Ser(AGY), Leu(UUC)], as well as the region of the displacement loop were analyzed separately with different primer sets. Rearrangements were detected in all regions analyzed in samples taken throughout the animal life span, ranging from 1 day old to 33 months of age (senescent). Two-thirds of the rearrangements terminated at short (3-9-bp) direct repeats. Three of the different rearrangements were detected in more than one animal; the most common rearrangement was found in nine different template preparations. Two loci (hot spots) were found to be particularly susceptible to rearrangement, and both were located at sequences that exhibited highly conserved potential for secondary structure formation. The displacement loop region of 10 samples exhibited the presence of multiple tandem duplications ranging between 324 and 449 bp in length. One of these consisted of heterologous, but overlapping, repeating units. Identical PCR protocols were carried out in control experiments using a cloned fragment of mtDNA that encompassed the most common hot spot sequence. The results showed that this fragment did not artifactually generate a rearrangement junction under our PCR conditions and suggested that this sequence does not promote rearrangement mutations in bacteria during the cloning process.

Aging↗
PubMed1998

Increased frequency of cystic fibrosis among infants with jejunoileal atresia.

There appears to be an increased frequency of cystic fibrosis (CF) among infants with jejunoileal atresia (JIA). However, the figures vary widely, and no population-based data exist. The purpose of this study was to quantitate the magnitude of the association between JIA and CF in Atlanta using population-based data from 1968 to 1995. Case subjects included all infants with isolated JIA born during 1968-1995 to mothers residing in the five-county metropolitan Atlanta area at the time of birth. To ascertain cases, we reviewed records of the Metropolitan Atlanta Congenital Defects Program (MACDP), a population-based birth defects registry. Caucasian JIA cases were cross-referenced with patients in the CF registry at the Egleston Cystic Fibrosis Center at Emory University to more completely ascertain the diagnosis of CF among JIA cases. During 1968-1995, MACDP ascertained a total of 94 isolated JIA cases, for a birth prevalence of 1.8/10,000 live births. Among the cases, 38 were Caucasian, 52 were African-American, and 4 were of Asian or Hispanic ethnicity. Four of the 38 Caucasian JIA cases (11%) also had CF. The expected number of JIA cases with CF is 0.019 based on the estimated population incidence of 1/ 2,000 for CF. The observed to expected (O/E) ratio of Caucasian JIA cases with CF is greater than 210 (P<0.0001). Caucasian infants with JIA have more than 210 times the risk for CF compared with Caucasian infants in the general population. The results of this study have implications for the management of infants born with JIA and genetic counseling for families with affected infants.

Academic Medical Centers↗
PubMed1998

A data dependent computer algorithm for the detection of muscle activity onset and offset from EMG recordings.

This paper describes modifications to an algorithm presented by Marple-Horvat and Gilbey (1992) for identifying bursts of muscle activity in electromyographical (EMG) recordings. Our efforts to apply their algorithm to spontaneously moving infants and toddlers resulted in limited success. The modified algorithm makes several parameters dependent on the data being analyzed; these changes enabled it to analyze a variety of EMG recordings more effectively. The original algorithm had a success rate (correctly identified bursts) of 62.9% and combined error rate (number of insertions and deletions) of 73.0% when applied to an independent test data set. The modified algorithm displayed a success rate of 85.4% and combined error rate of 23.6%.

Adult↗
PubMed1998

Amniotic band facies.

Craniofacial deformities of 14 patients with amniotic band syndrome at one institution were reviewed for morphologic similarities. In addition to associated cleft lip and palate, vertical and oblique facial clefts, which were not associated with embryologic lines of fusion, were seen. It is hypothesized that the prominence of the nasal processes combined with the adjacent stomodeal orifice results in utero surfaces, which can lead to free band attachment and adherence, resulting in a spectrum of similarly oriented facial defects.

Amniotic Band Syndrome↗
PubMed1998

Dislocation of the mandible during the course of cataract surgery.

Spontaneous dislocation of the mandible is a well-described clinical entity with which the ophthalmologist may not be familiar. However, the widespread use of intravenous sedation places susceptible individuals at risk for the development of dislocation of the mandible. The authors describe a patient who underwent routine cataract surgery and suffered a dislocation of the mandible that initially went unrecognized. Ophthalmic surgeons who use intravenous sedation need to be aware of this complication and need to recognize the symptoms so that patients may receive timely attention.

Aged↗
PubMed1997

Elevated rates of severe neural tube defects in a high-prevalence area in northern China.

In the northern provinces of China, the birth prevalence rate of neural tube defects (NTDs) is among the highest in the world-at about 6 per 1,000 births in rural areas. A unique population-based birth defects surveillance system in which photographs are taken of infants with selected external birth defects was implemented in two provinces in northern China and two provinces in southern China where NTD rates approximate those in the United States. In the period from March 1992 through December 1993, 660 infants with NTDs were identified by the surveillance project from a birth cohort of 251,567. We compared data from the two surveillance areas in China with data from a low-prevalence area in the United States to determine if the pattern of NTD types differs. Based on birth prevalence rates of NTDs from the Metropolitan Atlanta Congenital Defects Program, the observed to expected ratios for two types of NTDs are markedly increased at 80.8 for craniorachischisis and 25.0 for iniencephaly. Rates of these two NTDs in the southern provinces are increased to a lesser degree with observed to expected ratios of 7.1 for craniorachischisis and 2.7 for iniencephaly. The pattern of NTDs in northern China shows an increase in types that are rare in low-prevalence areas such as metropolitan Atlanta. Increased awareness of varying patterns of NTDs in different populations may have important implications for identifying etiologic and pathogenetic mechanisms of NTDs.

China↗
PubMed1997

Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992.

Very little data are available from population-based studies on congenital hypothyroidism (CH) epidemiology and patterns of associated birth defects. By linking data from two population-based registries, we describe the epidemiology of CH and associated defects in Atlanta from 1979-1992. Cases included all infants with CH born from 1979-1992 to mothers residing in the metropolitan Atlanta area at the time of birth. We ascertained CH cases by reviewing newborn screening records and records of the Metropolitan Atlanta Congenital Defects Program (MACDP), a population-based registry of all serious birth defects diagnosed during a child's first year of life. We linked CH cases with MACDP records to ascertain the presence of serious birth defects among infants with CH. Of 97 infants identified with CH through newborn screening and/or MACDP (1:5,000 live births), 87 had primary CH and 10 had secondary. The rate of primary CH was higher among non-hispanic whites than among blacks (1:4,400 vs. 1:10,000) and among females compared with males (1:4,000 vs. 1:7,700). Among infants with primary CH, 77 had isolated CH, 3 had Down syndrome, and 7 had unrelated major structural defects. Based on Atlanta population rates of Down syndrome and major structural anomalies, we infer i) infants with Down syndrome have a 35-fold increased risk for primary CH compared with infants in the general population (P < .0001); ii) infants with primary CH have a 2.2-fold increased risk for major structural anomalies (P < .05). Because this is the first population study of CH in the United States in which data from two population-based registries were linked, the epidemiologic patterns and associated defects are more representative than those found in studies based on newborn screening records only.

Adult↗
PubMed1997

The spectrum of congenital anomalies of the VATER association: an international study.

The spectrum of the VATER association has been debated ever since its description more than two decades ago. To assess the spectrum of congenital anomalies associated with VATER while minimizing the distortions due to small samples and referral patterns typical of clinical series, we studied infants with VATER association reported to the combined registry of infants with multiple congenital anomalies from 17 birth defects registries worldwide that are part of the International Clearinghouse for Birth Defects Monitoring Systems (ICB-DMS). Among approximately 10 million infants born from 1983 through 1991, the ICB-DMS registered 2,295 infants with 3 or more of 25 unrelated major congenital anomalies of unknown cause. Of these infants, 286 had the VATER association, defined as at least three of the five VATER anomalies (vertebral defects, anal atresia, esophageal atresia, renal defects, and radial-ray limb deficiency), when we expected 219 (P<0.001). Of these 286 infants, 51 had at least four VATER anomalies, and 8 had all five anomalies. We found that preaxial but not other limb anomalies were significantly associated with any combination of the four nonlimb VATER anomalies (P<0.001). Of the 286 infants with VATER association, 214 (74.8%) had additional defects. Genital defects, cardiovascular anomalies, and small intestinal atresias were positively associated with VATER association (P<0.001). Infants with VATER association that included both renal anomalies and anorectal atresia were significantly more likely to have genital defects. Finally, a subset of infants with VATER association also had defects described in other associations, including diaphragmatic defects, oral clefts, bladder exstrophy, omphalocele, and neural tube defects. These results offer evidence for the specificity of the VATER association, suggest the existence of distinct subsets within the association, and raise the question of a common pathway for patterns of VATER and other types of defects in at least a subset of infants with multiple congenital anomalies.

Abnormalities, Multiple↗
PubMed1997

Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.

We describe 13 unrelated children with abnormalities of somatic growth, face, brain, and connective tissue including vasculature. Although the condition in these children falls under the general group of disorders known as cutis marmorata telangiectatica congenita (CMTC), the constellation of abnormalities appears to constitute a distinct and easily recognizable phenotype within this general group. In contrast to most children reported with CMTC, children in this subgroup have a high risk for neurologic abnormalities, including developmental delay, mental retardation, megalencephaly, and hydrocephalus. Early recognition of this condition is important for appropriate surveillance for known complications and parental counseling.

Abnormalities, Multiple↗
PubMed1997

Goldenhar syndrome among infants born in military hospitals to Gulf War veterans.

Reports in the popular press described the occurrence of Goldenhar syndrome among children of Persian Gulf War veterans (GWVs). The objective of this investigation was to compare the birth prevalence of Goldenhar syndrome among infants born in military hospitals to GWVs and to military personnel who were not deployed to the Gulf War (NDVs). Computerized hospital discharge data were reviewed for infants conceived after the war and born prior to the 1st of October, 1993, in medical treatment facilities (MTFs) operated by the U.S. Department of Defense. Medical records were evaluated for infants diagnosed at birth with at least one abnormality that might be related to Goldenhar syndrome. Two pediatricians, blinded to the parental Gulf War status of each infant, reviewed records. An estimated 75,414 infants were conceived after the Gulf War and born in MTFs during the study period (34,069 GWV infants and 41,345 NDV infants). Seven infants fulfilled the case criteria (five GWV infants and two NDV infants). All infants had fathers who served in the military at the time of their conception and birth. The birth prevalence was 14.7 per 100,000 live births among GWV infants (95% confidence interval [CI]: 5.4-36.4) and 4.8 per 100,000 live births (95% CI: 0.8-19.5) among NDV infants (relative risk: 3.03; 95% CI: 0.63-20.57; P values: [2-tailed] = 0.26, [1-tailed] = 0.16). The few affected cases and the broad confidence intervals surrounding the relative risk require that these results be interpreted with caution and do not exclude chance as an explanation for these findings.

Adolescent↗
PubMed1997

Gait electromyography in children with myelomeningocele at the sacral level.

OBJECTIVE: Patients with sacral level myelomeningocele can be expected to maintain a high level of ambulatory status long into adulthood. Gait deterioration and knee pain reported in this population may be attributed to compensatory movements and increased recruitment of less affected muscle groups to achieve this desired level of ambulation. The objective of this study was to analyze the effect of the solid ankle-foot-orthoses (AFOs) on the muscular activity of selected muscles during walking. DESIGN: Cohort/outcome. SETTING: Laboratory. PATIENTS: Twenty four patients with sacral level myelomeningocele between 4 to 17 years of age. INTERVENTION: Electromyographic activity of selected muscle groups were studied during barefoot walking and walking with solid AFOs at a self-selected walking velocity. MAIN OUTCOME MEASURES: Timing of electromyographic activity and sagittal plane knee kinematics. Comparison to normal electromyographic patterns and changes between barefoot and AFO walking conditions. RESULTS: With the AFOs there was significantly less prolonged stance phase quadriceps activity compared with barefoot walking, although greater than normal activity persisted. There was no change between conditions for the other monitored muscle groups. All muscles elicited greater duration of activity over the course of the gait cycle. CONCLUSIONS: Our results show that solid AFOs improve the prolonged knee extensor activity evident for barefoot walking. This is clinically relevant to the gait deterioration and knee pain sometimes seen in this patient population. We espouse early and persistent orthotic intervention to reduce compensatory muscular overactivity and maintain gait quality.

Adolescent↗
PubMed1997

Androgen and sleep-related erections.

Sleep-related penile erections provide a unique opportunity to objectively study erectile physiology in man. Testosterone is one of several factors involved in normal sexual function and testosterone reduction can be achieved by administering luteinizing-hormone releasing-hormone agonists (LHRH-A). In this study, ten healthy, young adult males were administered LHRH-A or placebo for a 12-week period. Subjects taking LHRH-A had a marginally significant decline in sleep-related erection duration at week 4 and significant reductions at weeks 8 and 12. By contrast, no statistically reliable change was found for the number of erections over the course of study. Maximum circumference increase during sleep erections showed mixed results. These results indicate that, whereas androgen reduction adversely affects sleep-related erections, it does not eliminate them over a 12-week trial in healthy young adult men. Further study in a larger sample is needed. Nonetheless, these preliminary findings support androgen having an important role in sleep-related erections.

Adult↗
PubMed1997

Evaluation of erectile dysfunction and sleep-related erections.

Significant advances in this past decade have improved our understanding of erectile physiology. A variety of tests are available for diagnosing impotence. SRE testing provides objective physiological information that is useful for indexing erectile capability and formulating a rational treatment plan. As such, SRE testing is a powerful noninvasive tool for assessing dysfunction. Nonetheless, in making a final diagnosis, the skillful clinician relies on more than one assessment parameter and on clinical acumen.

Erectile Dysfunction↗
PubMed1997

Coordination of lip muscle activity by 2-year-old children during speech and nonspeech tasks.

This investigation was designed to quantify the coordinative organization of lip muscle activity of 2-year-old children during speech and nonspeech behaviors. Electromyographic (EMG) recordings of right upper and lower lip activity of seven 2-year-old children were obtained during productions of chewing, syllable repetition, lip protrusion, and speech (repeated two-word utterances) tasks. Task comparisons revealed that the coordinative organization of upper and lower lip activity is task specific; different coordinative strategies are employed for different tasks. Lip protrusion and syllable repetition tasks yielded strong coupling of upper and lower lip activity. Lip rounding (sentences containing the lip-rounding vowel /u/) and "nonlabial" speech tasks (sentences free of bilabials and lip-rounding vowels) resulted in low coupling of upper and lower lip activity. Moderate levels of coupling of upper and lower lip activity were evident for chewing and bilabial speech tasks (sentences loaded with bilabial plosion). This finding, that the coordinative elements of the perioral system of 2-year-olds are task specific, extends the results of previous studies of adults and children, where task-specific coordinative strategies were employed by the mandibular and perioral systems (Moore, 1993; Moore & Ruark, 1996; Moore, Smith, & Ringel, 1988; Wohlert & Goffman, 1994). The task-dependent coordination of the perioral system of 2-year-olds supports the notion that developing speech and earlier developing oromotor behaviors (i.e., sucking, chewing) are mediated by different control mechanisms.

Child, Preschool↗
PubMed1997

Development of chewing in children from 12 to 48 months: longitudinal study of EMG patterns.

Developmental changes in the coordinative organization of masticatory muscles were examined longitudinally in four children over 49 experimental sessions spanning the age range of 12-48 mo. Electromyographic (EMG) records were obtained for right and left masseter muscles, right and left temporalis muscles, and the anterior belly of the digastric. Two independent analytic processes were employed, one that relied on identification of onset and offset of muscle activation and a second that used pairwise cross-correlational techniques. The results of these two analyses, which were found to be consistent with each other, demonstrated that the basic chewing pattern of reciprocally activated antagonistic muscle groups is established by 12 mo of age. Nevertheless, chewing efficiency appears to be improved through a variety of changes in the chewing pattern throughout early development. Coupling of activity among the jaw elevator muscles was shown to strengthen with maturation, and the synchrony of onset and offset of these muscles also increased. Coactivation of antagonistic muscles decreased significantly with development. This decrease in antagonistic coactivation and increase in synchrony among jaw elevators, and a parallel decrease in EMG burst duration, were taken as evidence of increased chewing efficiency. No significant differences in the frequency of chewing were found across the ages studied. Additional considerations include the appropriateness of this coordinative infrastructure for other developing oromotor skills, such as speech production. It is suggested that the relatively fixed coordinative framework for chewing exhibited by these children would not be suitable for adaptation to speech movements, which have been shown to rely on a much more variable and adjustable coordinative organization.

Child Development↗
PubMed1997

Does light-to-moderate alcohol consumption during pregnancy increase the risk for renal anomalies among offspring?

OBJECTIVE: To determine the association between light-to-moderate prenatal alcohol exposure and congenital renal anomalies. METHODS: Data from the population-based Atlanta Birth Defects Case-Control Study were used to examine the association between selected renal anomalies and self-reported maternal alcohol consumption during the period from 1 month before through 3 months after conception. Case infants were ascertained by a population-based birth defects registry with active case ascertainment; the case group consisted of 158 infants, born during 1968 through 1980 to metropolitan Atlanta residents, in whom these renal anomalies had been diagnosed. Two control groups were used. One had 3029 infants without birth defects, and the other had 4633 infants with birth defects exclusive of the urinary tract who were born during the same period. RESULTS: Overall, there was a moderate association between renal anomalies and moderate prenatal alcohol exposure (odds ratio, 1.5; 95% confidence interval, 1.0 to 2.3). When the renal anomalies were subclassified, moderate prenatal alcohol exposure was significantly associated only with renal agenesis or hypoplasia (odds ratio, 2.5; 95% confidence interval, 1.2 to 5.1), and within this group only infants with bilateral defects and other major anomalies in addition to renal agenesis or hypoplasia had significantly elevated risks. There were no significant associations between reported light consumption and any category of the selected renal anomalies. No conclusions could be reached for reported heavy consumption because of sparse data. Adjustments for potential confounding factors did not alter these results. CONCLUSION: This study suggests that moderate alcohol consumption during pregnancy may increase a woman's risk of giving birth to a child with renal agenesis or hypoplasia.

Abnormalities, Multiple↗
PubMed1996

Descriptive epidemiology of holoprosencephaly and arhinencephaly in metropolitan Atlanta, 1968-1992.

We report the descriptive epidemiology of holoprosencephaly and arhinencephaly using data from the Metropolitan Atlanta Congenital Defects Program, a population-based birth defects surveillance system with multiple sources of ascertainment. From 1968-1992, we ascertained 63 cases of holoprosencephaly and arhinencephaly from approximately 734,000 births, for a birth prevalence of 0.86 per 10,000. Thirteen case infants with holoprosencephaly and four case infants with arhinencephaly were categorized as having syndromes. Of the case infants with non-syndromic holoprosencephaly, 55% had malformations not attributable to the underlying brain defect. The rate of holoprosencephaly and arhinencephaly increased from 0.58 per 10,000 during 1968-1972 to 1.2 per 10,000 during 1988-1992 (P for trend = 0.016). Rates were higher for females than for males (risk ratio = 1.45, 95% C.I. 0.88-2.41) and higher for nonwhites than for whites (risk ratio = 1.74, 95% C.I. 1.06-2.86). There was a U-shaped distribution of risk associated with maternal age with a slightly increased risk for younger women (risk ratio for maternal age < 20 years, compared with age 25-29 years = 1.68, 95% C.I. 0.77-3.62) and older women (risk ratio for maternal age > 34 years, compared with age 25-29 years = 2.30, 95% C.I. 0.93-5.7), but this was not statistically significant. The increased risk in the older age group could be largely explained by the presence of cases with autosomal trisomies. Neonatal mortality was higher for infants with malformations that were not attributable to the underlying brain defect and for infants with syndromes than for infants with isolated holoprosencephaly. This analysis is the first population-based study with long-term data on this rare defect. Further epidemiologic studies will be necessary to assess the risk factors for holo-prosencephaly and arhinencephaly.

Abnormalities, Multiple↗