PubMed Health⌕ Search

Biomedical subjects

T L Young

Publications and source records attributed to T L Young.

At least 37 records · Page 2Linked to original sources
PubMed1999

Costs of smoking: a focus on maternal, childhood, and other short-run costs.

Estimating the costs attributable to smoking is helpful for evaluating appropriate tax policy, informing both public and private managers of health care, and evaluating alternative smoking cessation programs. While the smoking-attributable costs of chronic conditions have been well studied, these costs are less relevant to health maintenance organizations (HMOs) and employers whose populations are younger and transient. Costs incurred in the short run, such as those related to smoking during pregnancy and environmental tobacco smoke exposure (ETS) of children, are more relevant. In this article, the authors review studies of these sources of smoking-attributable costs as well as studies that focus on smoking-attributable outcomes and costs from the employer or HMO perspective. Subsidies may be necessary to induce employers to recognize the full social benefits of smoking cessation programs.

Air Pollutants↗
PubMed1998

Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.

There are at least five distinct Bardet-Biedl syndrome (BBS) loci, four of which have been mapped: 11q (BBS1), 16q (BBS2), 3p (BBS3), and 15q (BBS4). A comparative study of the three Arab-Bedouin kindreds used to map the BBS2, BBS3, and BBS4 loci suggests that the variability in the number and severity of clinical manifestations, particularly the pattern of polydactyly, reflects chromosome-specific subtypes of BBS [Carmi et al., 1995a; Am J Med Genet 59:199-203]. We describe a Newfoundland kindred of northern European descent and confirm the initial finding of a BBS locus on chromosome 3. However, the "BBS3 phenotype," which includes polydactyly of all four limbs and a progression to morbid obesity, was not observed. Rather, four of the five BBS patients in this family had polydactyly restricted to their feet. The obesity in these patients was reversible with caloric restriction and/or exercise. Mental retardation has been considered a major symptom of BBS. However, formal IQ testing shows that these patients are of average intelligence. Haplotype analysis reduces the BBS3 critical region to a 6-cM interval between D3S1595-D3S1753.

Adult↗
PubMed1998

Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13.

Retinoblastoma is a rare pediatric malignancy (1/20,000) while Hirschsprung disease is a relatively common pediatric disorder (1/5,000). We describe a boy with bilateral retinoblastoma, Hirschsprung disease, multiple minor anomalies, and an interstitial deletion 13q (q13 --> q22). This child and a similar previously reported girl with retinoblastoma and Hirschsprung disease may represent a previously unrecognized contiguous gene syndrome.

Chromosome Deletion↗
PubMed1998

Clueless: parental knowledge of risk behaviors of middle school students.

OBJECTIVES: To determine parental knowledge of risk behaviors of their middle-school-aged children and to compare that knowledge with behaviors reported by the students. DESIGN: Confidential surveys were administered to 194 poor and middle-class middle school students and their parents. INTERVENTION: None. MAIN OUTCOME MEASURE: Compare parental awareness and student admission of risk behaviors. RESULTS: Students and parents agree on the prevalence of some risk behaviors, including use of a seat belt, use of a bicycle helmet, arrest by police, use of diet pills, and attempts to lose weight through dieting and exercise. Small differences in perception, which were not statistically significant but which could be defined as trends, were found relating to the prevalence of dieting, exercising, or vomiting to lose weight. Statistically significant differences were found in the perceptions of the prevalence of the following risk behaviors: carrying a weapon to school (P<.001), LSD (lysergic acid diethylamide) or cocaine use (P=.02), suicide attempt (P<.001), sexual intercourse (P<.001), alcohol use (P<.001), tobacco use (P<.001), and marijuana use (P<.001). In many cases, parents dramatically underestimated the prevalence of these behaviors in students. CONCLUSIONS: Parents are largely ignorant of the extent to which their adolescents are involved in major risk behaviors. Educating parents in this area encourages them to support comprehensive health education curricula and other preventive programs in schools and communities.

Adolescent↗
PubMed1998

Multiplexed short tandem repeat polymorphisms of the Weber 8A set of markers using tailed primers and infrared fluorescence detection.

Short tandem repeat polymorphism (STRP) markers have become important reagents for mapping genetic diseases. These markers are available as screening sets, which are located in all chromosomes at discrete intervals, allowing the entire genome to be analyzed. Mapping studies that include many individuals in the analysis necessitate the production of large numbers of genotypes. In an effort to increase the efficiency and lower the cost of using these STRP screening sets, we have divided the amplification primers of the Weber 8A screening set into groups that can be amplified in single polymerase chain reaction (PCR) amplification reactions, resulting in a reduction of both time and cost. Fluorescently-labeled amplification products were produced using a three primer reaction. The forward STRP amplification primer for each marker contained a 19 bp sequence at the 5' end. A fluorescently-labeled primer, with a sequence identical to the 19 bp tail, was added to the amplification reaction as the sole source of fluorescent label. The STRP banding pattern is detected using an automated fluorescent DNA sequencer. Use of this multiplexed genomic screening set should greatly enhance the mapping of human disease loci.

DNA Primers↗
PubMed1998

Evidence that a locus for familial high myopia maps to chromosome 18p.

Myopia, or nearsightedness, is the most common human eye disorder. A genomewide screen was conducted to map the gene(s) associated with high, early-onset, autosomal dominant myopia. Eight families that each included two or more individuals with >=-6.00 diopters (D) myopia, in two or more successive generations, were identified. Myopic individuals had no clinical evidence of connective-tissue abnormalities, and the average age at diagnosis of myopia was 6.8 years. The average spherical component refractive error for the affected individuals was -9.48 D. The families contained 82 individuals; of these, DNA was available for 71 (37 affected). Markers flanking or intragenic to the genes for Stickler syndrome types 1 and 2 (chromosomes 12q13.1-q13.3 and 6p21.3, respectively), Marfan syndrome (chromosome 15q21.1), and juvenile glaucoma (chromosome 1q21-q31) were also analyzed. No evidence of linkage was found for markers for the Stickler syndrome types 1 and 2, the Marfan syndrome, or the juvenile glaucoma loci. After a genomewide search, evidence of significant linkage was found on chromosome 18p. The maximum LOD score was 9.59, with marker D18S481, at a recombination fraction of .0010. Haplotype analysis further refined this myopia locus to a 7.6-cM interval between markers D18S59 and D18S1138 on 18p11.31.

Chromosome Mapping↗
PubMed1998

A second locus for familial high myopia maps to chromosome 12q.

Myopia, or nearsightedness, is the most common eye disorder worldwide. "Pathologic" high myopia, or myopia of <=-6.00 diopters, predisposes individuals to retinal detachment, macular degeneration, cataract, or glaucoma. A locus for autosomal dominant pathologic high myopia has been mapped to 18p11.31. We now report significant linkage of high myopia to a second locus at the 12q21-23 region in a large German/Italian family. The family had no clinical evidence of connective-tissue abnormalities or glaucoma. The average age at diagnosis of myopia was 5.9 years. The average spherical-component refractive error for the affected individuals was -9.47 diopters. Markers flanking or intragenic to the genes for the 18p locus, Stickler syndromes type I and II (12q13.1-q13.3 and 6p21.3), Marfan syndrome (15q21.1), and juvenile glaucoma (chromosome 1q21-q31) showed no linkage to the myopia in this family. The maximum LOD score with two-point linkage analysis in this pedigree was 3.85 at a recombination fraction of .0010, for markers D12S1706 and D12S327. Recombination events identified markers D12S1684 and D12S1605 as flanking markers that define a 30.1-cM interval on chromosome 12q21-23, for the second myopia gene. These results confirm genetic heterogeneity of myopia. The identification of this gene may provide insight into the pathophysiology of myopia and eye development.

Adult↗
PubMed1998

Polycyclic aromatic hydrocarbon-DNA adducts in human placenta and modulation by CYP1A1 induction and genotype.

This study investigated the relationship in human placenta between polycyclic aromatic hydrocabon (PAH)-DNA adduct levels and two biomarkers of cytochrome P4501A1 (CYP1A1): gene induction evidenced by CYP1A1 mRNA, and a genetic polymorphism, the CYP1A1 MspI RFLP. CYP1A1 codes for an inducible enzyme system that catalyzes the bioactivation of PAHs. Prior research found a high correlation in human lung tissue between CYP1A1 activity and DNA damage from PAHs. The CYP1A1 Mspi RFLP has been linked in some studies to risk of lung cancer. The relationships in human placenta between DNA damage, CYP1A1 activity and genotype have not been well characterized and may be relevant to risks from transplacental PAH exposure. The study cohort consisted of 70 newborns from Krakow, Poland, a city with elevated air pollution, and 90 newborns from nearby Limanowa, an area with lower air pollution but greater indoor coal use. Contrary to results seen previously in lung tissue, CYP1A1 mRNA was not significantly correlated with PAH-DNA adduct levels in the placenta. Smoking (self-reported maternal and infant plasma cotinine) was significantly associated with CYP1A1 mRNA levels (P < 0.01), but not with PAH-DNA adduct levels. Placental PAH-DNA adduct levels were significantly higher in infants with the CYP1A1 MspI restriction site compared with infants without the restriction site (P < 0.01), implicating a genetic factor in inter-individual variation in DNA damage in human placenta. Further studies are needed to determine the relevance of this finding to risk of transplacental carcinogenesis.

Adult↗
PubMed1998

Relationship between ambient air pollution and DNA damage in Polish mothers and newborns.

Industrialized regions in Poland are characterized by high ambient pollution, including polycyclic aromatic hydrocarbons (PAHs) from coal burning for industry and home heating. In experimental bioassays, certain PAHs are transplacental carcinogens and developmental toxicants. Biologic markers can facilitate evaluation of effects of environmental PAHs on the developing infant. We measured the amount of PAHs bound to DNA (PAH-DNA adducts) in maternal and umbilical white blood cells. The cohort consisted of 70 mothers and newborns from Krakow, Poland, an industrialized city with elevated air pollution. Modulation of adduct levels by genotypes previously linked to risk of lung cancer, specifically glutathione S-transferase MI (GSTM1) and cytochrome P4501A1 (CYP1A1) Msp restriction fragment length polymorphism (RFLP), was also investigated. There was a dose-related increase in maternal and newborn adduct levels with ambient pollution at the women's place of residence among subjects who were not employed away from home (p < or = 0.05). Maternal smoking (active and passive) significantly increased maternal (p < or = 0.01) but not newborn adduct levels. Neither CYP1A1 Msp nor GSTM1 polymorphisms was associated with maternal adducts. However, adducts were significantly higher in newborns heterozygous or homozygous for the CYP1A1 Msp RFLP compared to newborns without the RFLP (p = 0.04). Results indicate that PAH-induced DNA damage in mothers and newborns is increased by ambient air pollution. In the fetus, this damage appears to be enhanced by the CYP1A1 Mspl polymorphism.

Adult↗
PubMed1998

Rigid gas permeable contact lens changes in the aphakic infant.

PURPOSE: The purpose of this study was to describe and evaluate the frequent parameter changes required in aphakic infants fit with rigid gas permeable (RGP) contact lenses. METHODS: Twenty-five eyes from 18 patients with congenital cataracts were fit postoperatively with RGP lenses and followed for an average of 19 months. The original lens specifications were determined by keratometer readings, corneal diameter, and axial length or retinoscopy obtained under sedation just prior to or after cataract extraction surgery. The frequency of changes in contact lens power, base curve, and diameter was recorded and analyzed. RESULTS: Due to rapid growth and/or difficulty in achieving accurate measurements, repeated contact lens adjustments were needed to ensure proper power and fit. CONCLUSIONS: The data contained in this study indicates a relatively stable period--from 6 to 12 months postoperatively--where the likelihood that contact lenses will need to be modified falls below 50%.

Acrylic Resins↗
PubMed1997

The association of strabismus, amblyopia, and refractive errors in spasmus nutans.

PURPOSE: Spasmus nutans is a condition that includes asymmetric nystagmus and occurs during the amblyogenic period. Because specific alterations in early visual experience are known to be associated with changes in visual development, relations between spasmus nutans and abnormal visual sequelae were examined. METHODS: The records of 18 patients with spasmus nutans were reviewed retrospectively. The incidence of strabismus, amblyopia, anisometropia, and astigmatism was compared with published age-matched control subjects. RESULTS: There was a significantly higher incidence of strabismus (10 of 18) and amblyopia (8 of 18) of the eye with the greater amplitude of nystagmus. No correlation of refractive error with lateralization of nystagmus could be established. Twelve of 18 patients required spectacles for improvement in visual acuity and for treatment of amblyopia. Best-corrected visual acuity averaged 1.20 Snellen lines poorer than age-adjusted normative values; however, loss of visual acuity was, in most cases, symmetric and not related to lateralization of nystagmus. CONCLUSION: Early detection and treatment of anticipated abnormal visual issues in patients with spasmus nutans will optimize visual outcomes.

Age of Onset↗
PubMed1997

Histopathology and vascular endothelial growth factor in untreated and diode laser-treated retinopathy of prematurity.

OBJECTIVES: We had the unique opportunity to compare the eyes of a premature infant with stage 3 retinopathy of prematurity (ROP) in both eyes after the condition was treated by diode laser photocoagulation in one eye only. After the infant's death, we investigated the extent of structural damage incurred with the diode laser and examined the effect of treatment on vascular endothelial growth factor (VEGF) expression. METHODS: The eyes were fixed and embedded in paraffin. Adjacent 6 microns sections were either stained for histopathologic analysis or used for in situ hybridization. VEGF messenger RNA (mRNA) was detected by using radiolabeled antisense riboprobes. RESULTS: In the treated eye, histopathologic results demonstrated the clinically evident dose-response effect, with sparing of inner retinal elements with mild laser burns and full-thickness retinal cell disruption with severe burns. Scleral and ciliary nerve effects were absent. VEGF mRNA was localized primarily in the ganglion cell layer but was also found in the inner nuclear layer. In the untreated eye, an increase in VEGF mRNA was detected at the peripheral edge of the vascularized retina anterior to the ridge. In the laser-treated eye, VEGF mRNA expression was dramatically upregulated in the ganglion cell layer in areas adjacent to laser burns. CONCLUSIONS: VEGF mRNA was found to be elevated in the peripheral, avascular retina of the untreated eye, consistent with the hypothesis that retinal hypoxia stimulates VEGF expression. In the treated eye with recurrent ROP, VEGF mRNA was not detected in the photocoagulated areas of retina but was increased between laser scars. This finding confirms the results of prior animal studies and validates the use of these models.

Adult↗
PubMed1997

Extracorporeal membrane oxygenation causing asymmetric vasculopathy in neonatal infants.

BACKGROUND: Extracorporeal membrane oxygenation (ECMO) is a form of cardiopulmonary bypass therapy used in term or near-term infants with severe cardiorespiratory disorders not responsive to conventional intensive care interventions. An ECMO-associated retinal vasculopathy has been described with little reference to the specific condition of the patient. We examined the eyes of 91 infants who underwent ECMO treatment. An assessment was made of the following: (1) when retinal changes occurred, (2) whether there was a particular systemic disorder or ECMO approach associated with these retinal findings, and (3) whether there may be ocular sequelae from this development. METHODS: Ninety-one neonates were treated with ECMO for meconium aspiration syndrome (MAS), primary persistent pulmonary hypertension of the newborn, sepsis, congenital diaphragmatic hernia (CDH), respiratory distress syndrome (RDS), and blood aspiration. Venoarterial bypass was performed in 73 patients. The remaining 18 patients underwent venovenous bypass. Ophthalmologic examinations were performed during bypass in 6 infants and within 3 weeks of ECMO in the remainder. RESULTS: Asymmetric retinopathy (left eye > right eye) was discovered in six infants with CDH and in one infant with RDS within a 2-week period after bypass, demonstrating venous tortuosity with or without intraretinal hemorrhages. One infant treated for MAS had a left eye intraretinal hemorrhage only. All patients with the noted retinal changes underwent venoarterial cannulation. Six of 9 patients with CDH had retinal findings noted compared with 1 of 10 patients with RDS and 1 of 35 patients with MAS. CONCLUSION: Because we were able to examine infants while they were receiving ECMO or shortly after termination of bypass, asymmetric vasculopathy was found in a greater percentage of our patients compared with a similar large case series. ECMO-associated retinal vasculopathy appeared to disproportionately occur in those patients with CDH who underwent venoarterial bypass. Further study of retinal vascular changes in patients with CDH should be performed to assess long-term effects.

Extracorporeal Membrane Oxygenation↗
PubMed1997

Polycyclic aromatic hydrocarbon-DNA adducts in beluga whales from the Arctic.

The Arctic is still relatively pristine in nature, but it is also vulnerable to pollution because contaminants originating from midlatitudes are transported to the Arctic by atmospheric processes, ocean currents, and rivers (Muir et al., 1992). Recognition of this fact of Arctic vulnerability has resulted in a Declaration on the Protection of the Arctic Environment by eight Arctic countries. A manifest aim of this declaration is to develop an Arctic Monitoring and Assessment Program. We report here on the presence of measurable levels of polycyclic aromatic hydrocarbon-DNA adducts, including relatively high levels in Arctic beluga (Delphinapterus leucas). These results lend support to the value of developing biological assessment programs for Arctic wildlife.

Animals↗
PubMed1997

Contribution of genetic and nutritional factors to DNA damage in heavy smokers.

Prior epidemiological evidence suggests that genes controlling the metabolism of carcinogens and antioxidant/nutritional status are associated with lung cancer risk, possibly through their ability to modulate DNA damage by carcinogens. We performed a cross-sectional analysis of 159 heavy smokers from a cohort of subjects enrolled in a smoking cessation program. A total of 159 blood samples were analyzed to determine the relative contributions of genetic polymorphisms [CYP1A1 MspI and exon 7 and glutathione S-transferase M1 (GSTM1)] and plasma micronutrients to polycyclic aromatic hydrocarbon-DNA (PAH-DNA) adduct levels. DNA damage in smokers was affected by genetic polymorphisms and nutritional status. Smokers with the CYP1A1 exon 7 valine polymorphism had significantly higher (2-fold, P < or = 0.03) levels of DNA damage than those without. In parallel models, PAH-DNA adducts were inversely associated with plasma levels of retinol (beta = -0.93, P = 0.01), beta-carotene (beta = -0.18, P = 0.09), and alpha-tocopherol (beta = -0.28, P = 0.21) in 159 subjects. The association between smoking-adjusted plasma beta-carotene levels and DNA damage was only significant in those subjects lacking the GSTM1 detoxification gene (beta = -0.30, P = 0.05, n = 75). There was a statistical interaction between beta-carotene and alpha-tocopherol; when beta-carotene was low, alpha-tocopherol had a significant protective effect (beta = -0.78, P = 0.04) on adducts, but not when beta-carotene was high (beta = -0.16, P = 0.57). Plasma alpha-tocopherol was significantly correlated with beta-carotene (r = 0.36, P = 0.0005) and less strongly with retinol (r = 0.20, P = 0.0005). These results suggest that several micronutrients may act in concert to protect against DNA damage and highlight the importance of assessing overall antioxidant status. In conclusion, a subset of smokers may be at increased risk of DNA damage and possibly lung cancer due to the combined effect of low plasma micronutrients and genetic susceptibility factors. The use of biological markers to assess efficacy of interventions and to study mechanisms of micronutrients is timely given the current debate regarding the use of chemopreventive agents in high risk populations.

Adult↗