Sequence of a cDNA clone encoding a potato (Solanum tuberosum) tuber lipoxygenase.
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Cloning, Molecular↗
Biomedical subjects
R Casey
Publications and source records attributed to R Casey.
Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder.
The association of neuroaxonal dystrophy and osteopetrosis is reported in 2 siblings born to non-consanguineous parents. The 1st child was diagnosed as having infantile osteopetrosis shortly after delivery. A computed tomography scan of the head revealed agenesis of the corpus callosum. She died at the age of 9 months. Post-mortem examination showed pneumonia and bony sclerosis. Neuropathological examination revealed cerebral atrophy, ventricular dilation, absence of the corpus callosum, and a small hippocampus. Neuroaxonal spheroids were found in hippocampus, basal ganglia, pons, medulla, spinal cord, cranial nerves, cerebellum, and peripheral nerves. Ultrastructural examination revealed membranous cytoplasmic bodies and electron-dense granular deposits within the neuroaxonal spheroids as well as the soma of neurons. The 2nd child was delivered at 36 weeks of gestation because of intrauterine fetal distress. The diagnosis of osteopetrosis and partial agenesis of the corpus callosum was made shortly after delivery. The child died at 1 month without an autopsy. There are rare cases reported previously with the association of neuroaxonal dystrophy and osteopetrosis. We review these cases and compare them with ours.
Agenesis of Corpus Callosum↗
Phenylketonuria screening: effect of early newborn discharge.
OBJECTIVE: To determine the percentage of term newborns discharged by 24 hours of life and the actions taken by physicians and institutions to avoid false-negative phenylketonuria (PKU) screens in these infants. DESIGN: Descriptive cross-sectional survey. PARTICIPANTS: One hundred forty term nurseries and 157 pediatricians. SELECTION PROCEDURE: Stratified sampling techniques were used to sample nurseries from the 1992 American Hospital Association guide to provide equal representation of each region of the country. Pediatricians were systematically sampled from a national list of practicing pediatricians supplied by Ross Laboratories to provide equal sampling from each state. RESULTS: The response rates were 95% (n = 133) for term nurseries and 83% (n = 131) for pediatricians. Twenty-four percent of healthy newborns are discharged by 24 hours of life. Ninety-three percent of nurseries screen all infants for PKU before discharge. In states without laws mandating rescreening, only 48% of institutions that discharge the majority of their infants (> 50%) by 24 hours of life rescreen. Also, in states without rescreening laws, 64% of pediatricians rescreen. The timing of this repeat screen ranges from less than 72 hours of life to 4 weeks. Determining which infants to rescreen varies by practitioner; some rescreen all infants, whereas others rescreen those discharged early. Just more than half of all pediatricians, whether practicing in a state requiring repeat PKU screening, claim to be familiar with the American Academy of Pediatrics recommendations regarding repeated PKU screening of infants discharged by 24 hours of life. CONCLUSION: Twenty-four percent of term newborns in the United States are discharged by 24 hours of life. Most hospitals screen all infants for PKU before discharge regardless of age. The majority of states do not mandate rescreening; rescreening policies among pediatricians and institutions in those states vary widely. A significant number of infants do not receive repeated screening and are therefore at risk for delayed or missed diagnosis of PKU because of insensitive initial screens. Pediatrician awareness of the need to perform repeated PKU screens on infants discharged by 24 hours is poor.
Age Factors↗
Universal hepatitis B immunization.
OBJECTIVE: To determine the practices of US nurseries, neonatal intensive care units (NICUs), and pediatricians regarding universal hepatitis B vaccination. DESIGN: Descriptive cross-sectional survey. PARTICIPANTS: One hundred forty term nurseries, 152 NICUs, and 157 pediatricians. Selection procedure. Nurseries and NICUs were systematically sampled from the 1992 American Hospital Association Guide to provide equal sampling from each region of the country. Pediatricians were systematically sampled from a national list of practicing pediatricians supplied by Ross Laboratories to provide equal sampling from each state. RESULTS: The response rates were 95% (n = 133) for term nurseries, 95% (n = 144) for NICUs, and 83% (n = 131) for pediatricians. Sixty-two nurseries (47%) provide routine hepatitis B vaccine (HBV) to their infants. Eighty-five NICUs (59%) routinely vaccinate their preterm infants; 62 (73%) initiate the series just before discharge; and 11 (13%) do so at birth. Principal reasons for not vaccinating include cost and a preference to allow the primary-care physician to initiate the series. One hundred ten (85%) pediatricians provide universal hepatitis B vaccination. Principal reasons for not vaccinating include cost and parents opting against vaccination. CONCLUSIONS: More than half of NICUs provide HBV routinely to their preterm infants, predominantly just before hospital discharge. A minority of NICUs are initiating vaccination at birth, which may provide suboptimal seroconversion. Although less than half of participating term nurseries are routinely vaccinating before discharge, 85% of pediatricians do initiate HBV by two months of age. The principal reasons for not providing vaccine are financial.
Cross-Sectional Studies↗
Structure of the Pisum sativum seed lipoxygenase gene lox1:Ps:3.
We have isolated the Pisum sativum (pea) lox1:Ps:3 gene which encodes a lipoxygenase that is 84% identical in coding sequence to the LOX-3 gene from Glycine max (soybean). The 10028 bp sequence includes 5895 bp 5' to the transcription start site and 707 bp 3' to the stop codon. The coding region of lox1:Ps:3 contains eight introns, at positions equivalent to those in the soybean LOX-3 and L-4, the Phaseolus vulgaris (Frenchbean) LOX1, and the Pisum sativum lox1:Ps:2 genes. The first intron is unusually small. The 5'-flanking sequence contains two regions that have the potential to form hairpin structures, but few motifs known to interact with transcription factors. Despite their similarity in terms of expression, the lox1:Ps:3 and lox1:Ps:2 genes have little similarity within their 5'-flanking regions.
Genes, Plant↗
Experiences and reflections of former pediatric chief residents.
OBJECTIVE: To compare actual and ideal time commitments of pediatric chief residents between 1972 and 1992 and to determine if actual time commitments have changed. DESIGN: Descriptive, cross-sectional survey. PARTICIPANTS: One thousand two hundred eighty-four former pediatric chief residents. RESULTS: Chief residents between 1972 and 1982 spent a greater percentage of time teaching and providing patient care than chief residents between 1983 and 1992. Chief residents between 1983 and 1992 spent a greater percentage of time scheduling and performing other administrative tasks. In general, chief residents desired more time to teach, to conduct research, and to provide outpatient care and desired less time for scheduling and for performing other administrative duties. CONCLUSIONS: Although chief residents desire to spend more time teaching and less time performing administrative tasks, administrative duties have increased at the expense of teaching and patient care responsibilities over the past 20 years.
Career Choice↗
Isolation of a pea (Pisum sativum) seed lipoxygenase promoter by inverse polymerase chain reaction and characterization of its expression in transgenic tobacco.
Part of the 5'-flanking sequence of a pea (Pisum sativum) lipoxygenase (LOX) gene was cloned, after amplification from genomic DNA by inverse polymerase chain reaction. Translational and transcriptional fusions of 818 bp of the 5'-flanking region and its deletion derivatives (-513 and -356) were made to a beta-glucuronidase (GUS)-coding sequence and introduced into tobacco. Analysis of T1 transformants showed that the 818 bp 5'-flanking sequence drove GUS expression in seeds that was temporally regulated in a fashion similar to the accumulation of LOX mRNA in developing pea seeds. Contrary to expectations, however, expression of the 818 bp promoter-GUS fusion was not seed-specific; GUS activity was highest in leaves and also present in stems and, to a lesser extent, roots. Deletion analyses identified the region between -818 and -513 as essential for high-level, temporally regulated expression in seeds and also indicated that the sequence between -513 and -356 plays a negative role in leaf/stem, but not seed, expression. Comparison of translational and transcriptional fusions indicated that the LOX initiation codon was used more efficiently than the GUS initiation codon by the tobacco leaf translational apparatus.
Base Sequence↗
lox1:Ps:2, a Pisum sativum seed lipoxygenase gene.
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Amino Acid Sequence↗
Prevalence of lead poisoning in an urban cohort of infants with high socioeconomic status.
The purpose of this study was to assess the prevalence of lead poisoning in an urban cohort of infants with high socioeconomic status and to determine the usefulness of the Centers for Disease Control (CDC) questionnaire in predicting lead poisoning. The CDC questionnaire was administered to consecutive parents of infants, beginning with their 6-month well-child visit. All infants had a venous lead level by 12 months of age. The 165 infants were between 5.9 and 12 months (mean = 9.4 months). The majority (67%) lived in a major city, had parents who were college graduates (67%), and had private medical insurance (85%). The overall prevalence of lead poisoning (Pb > or = 10 micrograms/dL [0.483 mumol/L]) was 29%. The relative risk of lead poisoning, given exposure as defined by the CDC instrument, was 0.99 (95% CI = .81 to 1.21). The sensitivity and specificity of the questionnaire were 40% and 60%, respectively. We conclude that the prevalence of lead toxicity and the poor sensitivity of the CDC questionnaire in this cohort of urban infants with high socioeconomic status support the 1991 CDC recommendation for universal lead screening in this region.
Centers for Disease Control and Prevention, U.S.↗
An eosinophilia-myalgia syndrome related disorder associated with exposure to L-5-hydroxytryptophan.
OBJECTIVE: To determine whether L-5-hydroxytryptophan (L-5-HTP) associated with eosinophiliamyalgia syndrome (EMS) like illness contains impurities in a fashion similar to that described in L-tryptophan associated with EMS. METHODS: Members of a family who became ill after exposure to L-5-HTP were evaluated at the National Institutes of Health. Data from patients with extended exposure to L-5-HTP were also examined. Samples of L-5-HTP were examined using high performance liquid chromatography. RESULTS: One member of the family had EMS, and 2 others had eosinophilia. No patient in the other group reviewed developed the syndrome, although 2 patients developed eosinophilia. The L-5-HTP used by the family contained an impurity not present in samples from the other patient group. After replacement with L-5-HTP not containing this impurity, eosinophilia in 2 family members resolved. CONCLUSION: Some L-5-HTP contains impurities that may be related to L-5-HTP associated EMS.
5-Hydroxytryptophan↗
Potential impact of linking an emergency department and hospital-affiliated clinics to immunize pre-school-age children.
OBJECTIVE: To determine whether the use of an urban pediatric emergency department (ED) to immunize pre-school-age children would result in an improvement in the percentage fully vaccinated by the end of the second year of life. DESIGN: A retrospective cohort study of two groups: (1) 100 consecutive children (ED group) enrolled at one of two hospital-affiliated primary care clinics were chosen from the ED patient logs if their second birthday occurred in the 12 months prior to November 1990; and (2) 91 age-matched control children (control group) were chosen at random from the same hospital-affiliated clinics' enrollment logs without regard to ED use. The health care provided during the first 2 years of life for each group was compared. RESULTS: The mean number of visits to the ED in the first 2 years of life by the ED group was significantly greater than that of the control group (2.9 [SD] +/- 2.5 vs 1.1 +/- 1.4; P < .001) during the first 2 years of life. In 67% of ED visits, children would have been well enough to receive a vaccination. Both groups had similar types and numbers of visits to the primary clinics. For example, the ED group had 10 +/- 5 visits by age 2 years compared with the control group, which had 9 +/- 4 visits. There was no significant difference in actual immunization percentages achieved in the clinic, with 62% of the ED group having received four diphtheria, pertussis, and tetanus vaccinations; three oral poliovirus vaccinations; and one measles, mumps, and rubella vaccination by age 2 compared with 69% of control children. There were more missed vaccination opportunities during clinic visits in the ED group (7.4 vs 4.6 per 100 clinic visits; P < .01). If immunizations were offered in the ED to those children who needed them, immunization percentages would have been increased an average of 20% compared with percentages achieved in the clinic alone. CONCLUSION: Routine vaccinations in the ED would significantly increase immunization percentages in children enrolled in two hospital-affiliated clinics. Close linkage and coordination between the ED and hospital-affiliated clinics may improve preventive health care in urban children who use EDs.
Child Health Services↗
Mycobacterium bovis infection in a goat.
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Animals↗
Association of reported infant crying and maternal parenting stress.
Infant crying is a well-recognized source of parental concern and anxiety, but little is known about other possible effects of excessive crying on parents or caretakers. The objective of this descriptive study was to investigate the relationship between reported infant crying and parenting stress. Mothers, who were consecutively enrolled at the time of their infants' well-child checkups, reported the number of minutes their infant generally cried in a 24-hour day. Excessive crying was defined as more than three hours per 24-hour day. Seventy-five of 94 mothers subsequently completed the Parenting Stress Index (PSI) at their infant's 4- or 6-month checkup. Mothers who reported excessive crying were 5.7 times more likely to score high on the reinforcement subscale of the PSI. Although the direction of this association is not known, it indicates that mothers who report excessive crying are more likely than other mothers to perceive a lack of positive reinforcement from their infants.
Adult↗
Family experiences, attitudes, and household safety practices regarding firearms.
To assess families' experiences with shootings and firearm ownership and attitudes, 208 children aged 5 to 12 years were interviewed and 242 parents filled out a questionnaire, all at an urban hospital. Forty-three percent of the parents and 25% of the children had personal knowledge of shootings. Of the parents, 10% owned guns, of which only 21% were stored safely. Gun ownership was more common in homes with resident adult males (14%) than in those with no adult males (3%). Most children (81%) played with guns, and 20% to 25% preferred violent TV shows, games, and toys. Parents' and children's attitudes toward firearms and children's gun play did not differ by level of mother's education; method of payment for, or site of, health care; income; or exposure to shootings. Children with personal knowledge of shootings more often expressed fears of being shot than did other children (52% vs 31%). The children in our study population were similar in their gun play and attitudes about gun use despite disparate socioeconomic backgrounds and exposure to shootings.
Adult↗
Comparison of self-referred and physician-referred patients to a pediatric diagnostic center.
Self-referral of children by parents without the knowledge of the child's regular physician can lead to redundant or unnecessary testing and difficulty in arranging follow-up care. This study was designed to investigate reasons for self-referral in a hospital-based pediatric diagnostic center. During the study period, 59 patients were referred by their regular physicians and 51 were self-referred. In multiple-choice questionnaires completed by 85% of the parents, nearly half (18/39; 46%) of those who were self-referred but only 2/51 (4%) of physician-referred parents said the child's regular physician was unconcerned about the medical problem. Further study on the causes for this perception is needed before recommendations can be made to physicians about demonstrating their concern to families.
Child↗
Penetrating keratoplasty for bilateral acute corneal calcification.
A 76-year-old man with bilateral practolol-induced dry eyes developed atypical acute bilateral corneal calcification. Serum calcium, phosphate, and urea levels were within normal limits. The calcium deposition progressed rapidly to involve 90% of the right cornea. Right penetrating keratoplasty was performed with subsequent visual rehabilitation of the patient. Left tectonic penetrating keratoplasty was performed 8 weeks later after corneal perforation. The corneal specimens were examined by light and electron microscopy, which showed an atypical calcareous degeneration involving Bowman's layer as well as the full thickness of the stroma. Transmission electron microscopy showed the granular calcification to consist of extracellular, radially orientated aggregates of fine, needle-shaped crystals. Both transplants remained clear with no evidence of postoperative recurrence. To our knowledge this is the first report of bilateral penetrating keratoplasty for acute calcareous degeneration.
Aged↗
Obstetric and perinatal events: the accuracy of maternal report.
Physicians commonly rely on maternal recall of events during pregnancy, delivery, and the perinatal period. Investigators who are doing research in the reproductive and perinatal areas also rely on maternal recall. However, there is little information regarding its accuracy. This study evaluates the accuracy of maternal knowledge of events during pregnancy, delivery, and the perinatal period by comparing maternal report with information recorded on the medical records of the mother-infant pair. Results are presented as sensitivity, specificity, and chance-corrected agreement. Mothers demonstrated poor knowledge of pregnancy and delivery-room events. Agreement between maternal reports and hospital records was excellent for infant birth weight and type of delivery, and good for infant jaundice. However, other important areas of the infant's history, such as an evaluation for sepsis, were poorly recalled. The implications of these results are both medical- and research-specific. Physicians must be aware of possible inaccuracies in the mother's history and make every attempt to obtain the nursery discharge summary. In addition, researchers must verify the results of their data when relying on maternal recall, with the exception of infant birth weight and method of delivery.
Adult↗
Impaired emotional health in children with mild reading disability.
Children with reading disabilities are at risk for emotional difficulties. There is some evidence that reading-disabled children with high socioeconomic status may be at risk of having low self-esteem. We conducted a preliminary study of the impact of reading disability on children's self-esteem and emotional health in a select group of mildly impaired reading disabled children with well-educated parents who were well informed about reading disabilities. We interviewed 28 healthy, preadolescent boys and girls with mean reading delay of 9.0 months and 39 comparable nonreading disabled children who formed the control group. Children and parents completed the Harter's Self-Perception Profile. Parents completed the Achenbach Child Behavior Checklist and Rand Mental Health Survey. We found that these mildly impaired reading-disabled children were more anxious and less happy than were nondisabled students despite having well-informed, well-educated parents (mean level of education = 17.0 years). Reading-disabled children considered themselves to be less competent scholastically, and their parents rated them as less competent than nondisabled children on all measures of self-esteem. These well-educated mothers tended to underrate their child's perceived scholastic competence. Controlling for behavior problems, Achenbach Child Behavior Checklist scores for social competence were lower for reading-disabled children. These findings suggest that the mildly impaired reading-disabled children with high socioeconomic status are at risk for low self-esteem and poor emotional health.
Adaptation, Psychological↗