bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cohort mortality study among French asphalt workers
Authors: Stücker Isabelle , Meguellati Djamila , Boffetta Paolo , Cénée Sylvie , Margelin Dominique , Hémon Denis 
Published: December 2002

AbstractBackgroundIn conjunction with the European cohort study among asphalt workers coordinated by the International Agency for Research on Cancer (IARC), we studied the mortality of 15,011 French men who were followed for 17 years for a total of 175,062 persons‐years. This group contained 2,506 subjects who had ever been employed as asphalt workers: they contributed 30,692 person‐years of risk. A reference group was composed of 6,675 subjects (i.e., 61,856 persons‐years) who had been employed only in building or ground construction.MethodsMortality ratios standardized for age and period were computed with their 95% confidence intervals (CI) from the age and period mortality rates of all French men for the years covered by the study (1979–1996). We also compared the mortality of exposed workers and the reference group with Poisson regression models after adjustment for age, calendar period, and either duration of employment or length of follow‐up.ResultsMortality from lung cancer was equivalent to the expected rate [SMR = 1.01 95% CI (0.6–1.6)], but was 40% greater than among the non‐exposed reference group [RR = 1.4 95% CI (0.7–2.8)]. We also found an excess of gastrointestinal cancers, especially of the esophagus [SMR = 1.94, 95% CI (0.9–3.6)] and stomach [SMR = 2.2, 95% CI (0.8–4.7)]. Comparison with the internal reference group confirmed these findings, especially for stomach cancer [RR = 2.8, 95% CI (0.7–11.4)].ConclusionsAlthough our results are not statistically significant, they suggest that road‐paving workers may have a slightly higher rate of lung cancer and a moderately higher rate of stomach cancer than their non‐exposed counterparts. The excess of lung cancer may be due to potential confounding factors, including the occupational risk factor of coal tar exposure and the lifestyle risk factor of smoking. A nested case‐control study is under way that will make it possible to control for smoking and other potential carcinogenic exposures; this is necessary before any definitive conclusions can be drawn. Am. J. Ind. Med. 43:58–68, 2003. © 2003 Wiley‐Liss, Inc.
Estimating exposures in the asphalt industry for an international epidemiological cohort study of cancer risk
Authors: Burstyn Igor , Boffetta Paolo , Kauppinen Timo , Heikkilä Pirjo , Svane Ole , Partanen Timo , Stücker Isabelle , Frentzel‐Beyme Rainer , Ahrens Wolfgang , Merzenich Hiltrud , Heederik Dick , Hooiveld Mariëtte , Langård Sverre , Randem Britt G. , Järvholm Bengt , Bergdahl Ingvar , Shaham Judith , Ribak Joseph , Kromhout Hans 
Published: December 2002

AbstractBackgroundAn exposure matrix (EM) for known and suspected carcinogens was required for a multicenter international cohort study of cancer risk and bitumen among asphalt workers.MethodsProduction characteristics in companies enrolled in the study were ascertained through use of a company questionnaire (CQ). Exposures to coal tar, bitumen fume, organic vapor, polycyclic aromatic hydrocarbons, diesel fume, silica, and asbestos were assessed semi‐quantitatively using information from CQs, expert judgment, and statistical models. Exposures of road paving workers to bitumen fume, organic vapor, and benzo(a)pyrene were estimated quantitatively by applying regression models, based on monitoring data, to exposure scenarios identified by the CQs.ResultsExposures estimates were derived for 217 companies enrolled in the cohort, plus the Swedish asphalt paving industry in general. Most companies were engaged in road paving and asphalt mixing, but some also participated in general construction and roofing. Coal tar use was most common in Denmark and The Netherlands, but the practice is now obsolete. Quantitative estimates of exposure to bitumen fume, organic vapor, and benzo(a)pyrene for pavers, and semi‐quantitative estimates of exposure to these agents among all subjects were strongly correlated. Semi‐quantitative estimates of exposure to bitumen fume and coal tar exposures were only moderately correlated. EM assessed non‐monotonic historical decrease in exposures to all agents assessed except silica and diesel exhaust.ConclusionsWe produced a data‐driven EM using methodology that can be adapted for other multicenter studies. Am. J. Ind. Med. 43:3–17, 2003. © 2003 Wiley‐Liss, Inc.
Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader‐Willi‐like phenotype
Authors: Stalker Heather J. , Keller Kory L. , Gray Brian A. , Zori Roberto T. 
Published: December 2002

AbstractWe report on a 34‐year‐old developmentally disabled man referred to our clinic for evaluation of possible Prader‐Willi syndrome on the basis of obesity and voracious appetite. Cytogenetic and molecular analysis revealed a 47, XYY karyotype and the presence of a trinucleotide repeat expansion resulting in fragile X syndrome. To our knowledge, this is the first report of concurrence of XYY and fragile X syndrome in the medical literature. Review of sex chromosome abnormalities associated with fragile X syndrome and phenotypic considerations are presented. © 2003 Wiley‐Liss, Inc.
Risk perception of participants in a family‐based genetic screening program on familial hypercholesterolemia
Authors: van Maarle M.C. , Stouthard M.E.A. , Bonsel G.J. 
Published: December 2002

AbstractThe aim of this article is threefold. First, we describe the accuracy of people's risk perception who have been screened on familial hypercholesterolemia (FH) in a family‐based screening program. Second, we identify factors that modify risk perception. Finally, we show the influence of risk perception on subsequent preventive behavior. The risk perception of 556 screenees (677 participants, overall response = 82%) was measured by postal questionnaires on three occasions: at screening and 3 days and 7 months after the test result was reported to the patient. Presentation of the risk was precategorized and given both as numerical (1 in x) and as verbal probability. In addition, medication use and attitudes toward gene therapy were determined 7 months after screening. On average, the screenees underestimated their numeric risk of having FH and getting a myocardial infarction (MI). Furthermore, FH‐positive screenees perceived that they were at greater risk of MI than FH negatives, and screenees with the highest actual risk used medication more, perceived a greater risk, and opted more often for future gene therapy. Risk perception of having FH was influenced by cholesterol level, while MI risk perception was affected by age, education, cholesterol level, and cardiovascular disease (CVD) in the family. We conclude that FH‐positive screenees correctly perceive a higher risk of getting a heart attack than do FH‐negative screenees. Screenees did not believe that MI was inevitable, and risk perception was associated with both medication use and the intention to opt for gene therapy, but not with other preventive measures. Thus, genetic risk notification seems to be acceptable and does not lead to aversion to preventive behavior. © 2002 Wiley‐Liss, Inc.
Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy
Authors: Shotelersuk Vorasuk , Desudchit Tayard , Suwanwela Nitaya 
Published: December 2002

AbstractWe describe two sibs with postnatal‐onset growth deficiency, microcephaly, cataract, prominent supraorbital ridge, large joint contractures, severe osteoporosis, cortical dysplasia, cerebellar atrophy, and mental retardation. The combination appears to constitute a previously undescribed syndrome inherited in an autosomal recessive pattern. © 2003 Wiley‐Liss, Inc.
18q‐ syndrome and ectodermal dysplasia syndrome: Description of a child and his family
Authors: Zannolli R. , Pierluigi M. , Pucci L. , Lagrasta N. , Gasparre O. , Matera M.R. , Di Bartolo R.M. , Mazzei M.A. , Sacco P. , Miracco C. , de Santi M.M. , Aitiani P. , Cavani S. , Pellegrini L. , Fimiani M. , Alessandrini C. , Galluzzi P. , Livi W. , Gonnelli S. , Terrosi‐Vagnoli P. , Zappella M. , Morgese G. 
Published: December 2002

AbstractThe 18q‐ syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine‐year‐old boy possessing a simple 18q‐ deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31−qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q‐ deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal. © 2002 Wiley‐Liss, Inc.
Trisomy 8 mosaicism: Selective growth advantage of normal cells vs. growth disadvantage of trisomy 8 cells
Authors: Hulley Bonnie J. , Hummel Marybeth , Cook Linda L. , Boyd Brita K. , Wenger Sharon L. 
Published: December 2002

AbstractA fetus with trisomy 8 mosaicism was identified prenatally due to an abnormal maternal serum triple screen. Tissue samples were taken at birth to determine the level of trisomy 8 mosaicism found within embryonic and extra‐embryonic tissues, rates of cell division for the two cell lines, and the effect of mosaicism on the phenotype. The level of trisomy 8 cells in blood and fibroblasts was higher than in placental tissue. Cell cycle kinetics, by incorporation of bromodeoxyuridine for 48 hr, was not significantly different between the trisomy 8 and normal cells for blood or amnion. Fluorescent in situ hybridization (FISH) using centromeric probe for chromosome 8 showed significantly more trisomy 8 in interphase vs. metaphase in lymphoblasts, umbilical cord fibroblasts, and chorion. The loss of trisomy 8 cells is not due to anaphase lag, as determined by micronuclei analysis. The similarity of cell cycle kinetics between trisomy 8 cells and normal diploid cells suggests some trisomy 8 cells are exiting the cell cycle prematurely. This growth disadvantage of trisomy 8 cells results in the appearance of growth advantage for diploid cells. © 2002 Wiley‐Liss, Inc.
Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: Macrocephaly–cutis marmorata telangiectatica congenita syndrome or new disorder?
Authors: Mégarbané André , Haddad Joseph , Lyonnet Stanislass , Clayton‐Smith Jill 
Published: December 2002

AbstractWe report a male patient with increased birth weight and growth, cutis marmorata, macrocephaly, large hands and feet, thick subcutaneous tissues, postaxial polydactyly, linear skin hyperpigmentation following the lines of Blaschko, and intestinal lymphangiectasia. Although the findings resemble the recently defined macrocephaly cutis marmorata syndrome, some findings suggest that this might be a new disorder. Differential diagnosis are discussed, with a review of the literature. © 2002 Wiley‐Liss, Inc.
Documentation of anomalies not previously described in Fryns syndrome
Authors: Arnold Sonya Rae , Debich‐Spicer D Diane , Opitz John M. , Gilbert‐Barness Enid 
Published: December 2002

AbstractWe report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia. These defects add to our knowledge of the phenotype of Fryns syndrome. © 2002 Wiley‐Liss, Inc.
Lack of association between Y chromosome haplogroups and male infertility in Japanese men
Authors: Carvalho Cláudia M.B. , Fujisawa Masato , Shirakawa Toshiro , Gotoh Akinobu , Kamidono Sadao , Freitas Paulo Tatiana , Santos Sidney E.B. , Rocha Juliane , Pena Sérgio D.J. , Santos Fabrício R. 
Published: December 2002

AbstractThe Y chromosome carries several genes involved in spermatogenesis, which are distributed in three regions in the euchromatic part of the long arm, called AZFa (azoospermia factor a), AZFb, and AZFc. Microdeletions in these regions have been seen in 10–15% of sterile males with azoospermia or severe oligozoospermia. The relatively high de novo occurrence of these microdeletion events might be due to particular chromosome arrangements associated with certain Y chromosome haplogroups. To test whether there is any association between Y chromosome types and male infertility, we studied a sample of 84 Japanese oligozoospermic or azoospermic males. The patients were analyzed for the presence of Yq microdeletions and also typed with a battery of unique event polymorphisms (UEPs) to define their Y haplogroups. Six of the infertile patients presented likely pathological microdeletions detectable with the sequence tagged sites (STS) markers used. There was no significant association between Y chromosome haplogroups and the microdeletions. We also compared the Y haplogroup frequencies in our subset sample of 51 idiopathic azoospermia patients with 57 fertile control Japanese males, and did not observe any significant differences. Contrary to previous reports, our data suggest that Y microdeletions and other molecular events causally associated with male infertility in Japan occur independently of the Y chromosome background. © 2002 Wiley‐Liss, Inc.
Functional morphology and physiology of pulmonary rapidly adapting receptors (RARs)
Authors: Widdicombe John 
Published: December 2002

AbstractRapidly adapting receptors (RARs) in the airway mucosa are found from the nasopharynx to the bronchi. They have thin (Aδ) vagal afferent fibres and lie in and under the epithelium, but their morphology has not been defined. They are very sensitive to mechanical stimuli, and have a rapidly adapting irregular discharge. However, with in vitro preparations they are rather insensitive to chemical stimuli, apart from acid and nonisosmolar solutions. Their pattern of response varies with site. RARs in the nasopharynx, larynx, and trachea usually respond only during the onset of stimuli, while those in the trachea often have an off‐response as well. Those in the bronchi are less rapidly adapting and more chemosensitive. Their membranes have mechanosensitive and acid‐sensitive ion channels, but no vanilloid receptors. In vivo RARs are sensitive to a wide range of chemical irritants and mediators, and presumably are excited secondarily to mechanical changes in the mucosa and airway smooth muscle. In the central nervous system (CNS) they interact with other vagal afferent pathways. The reflexes they cause vary with site (inspiratory efforts from the nasopharynx, cough or expiratory efforts from the larynx and trachea, and deep breaths or tachypnoea from the bronchi). Pathways from RARs and other vagal reflexes show plasticity at the peripheral, ganglionic, and CNS levels. Anat Rec Part A 270A:2–10, 2003. © 2003 Wiley‐Liss, Inc.
Functional morphology and physiology of slowly adapting pulmonary stretch receptors
Authors: Schelegle Edward S. 
Published: December 2002

AbstractSince the original work by Hering and Breuer (1868) on slowly adapting pulmonary stretch receptors (SARs), numerous studies have demonstrated that these receptors are the lung vagal afferents responsible for eliciting the reflexes evoked by moderate lung inflation. SARs play a role in controlling breathing pattern, airway smooth muscle tone, systemic vascular resistance, and heart rate. Both anatomical and physiological studies support the contention that SARs, by their close association with airway smooth muscle, continuously sense the tension within the myoelastic components of the airways caused by lung inflation, smooth muscle contraction, and/or tethering of small intrapulmonary airways to the lung parenchyma. As a result, the receptor field location within the tracheobronchial tree of a SAR plays an important role in its discharge pattern, with variations in airway transluminal pressure and airway smooth muscle orientation being important modulating factors. The disruption of airway myoelastic components in various pulmonary diseases would be expected to alter the discharge pattern of SARs, and contribute to changes in breathing pattern and airway smooth muscle tone. Anat Rec Part A 270A:11–16, 2003. © 2003 Wiley‐Liss, Inc.
Postnatal maturation of the dog stria vascularis— an immunohistochemical study
Authors: Coppens Angélique G. , Salmon Isabelle , Heizmann Claus W. , Kiss Robert , Poncelet Luc 
Published: December 2002

AbstractThe lateral wall of the dog cochlear duct was investigated by classical staining and immunohistochemistry for NaK/ATPase β2 isoform, cytokeratins (Cks), vimentin, nestin, and S100A6 during the postnatal cochlear maturation, i.e., from birth to postnatal day 110. The dog stria vascularis was immature at birth. Fine melanin granules were evident in the stria from the second week of life, and melanin concentration increased drastically beyond the first month. The marginal cells were NaK/ATPase‐ and Ck‐positive; intermediate cells were either nestin‐ and S100A6‐positive or vimentin‐positive; the basal cells were vimentin‐positive; the capillary endothelium showed vimentin and nestin labeling; the cell layer underlying the stria was nestin‐positive. The fibrocytes of the spiral ligament and spiral prominence expressed nestin and vimentin. The epithelial cells overlaying the spiral prominence and the external sulcus were Ck‐positive, and transiently nestin‐ and vimentin‐positive. Double immunolabeling, for S100A6 and either nestin, vimentin, or NaK/ATPase, and for nestin and vimentin suggested the presence of two distinct intermediate cell types. The results enabled us to differentiate the cell types forming the lateral wall of the dog cochlear duct, and to follow their postnatal maturation. This study may form a basis for future investigations about spontaneous cochleosaccular degeneration in dogs. This species is an important companion animal, and a possible model for the study of comparable diseases in humans. Anat Rec Part A 270A:82–92, 2003. © 2003 Wiley‐Liss, Inc.
Receptor‐mediated effects of nicotine and its nitrosated derivative NNK on pulmonary neuroendocrine cells
Authors: Schuller Hildegard M. , Plummer Howard K. , Jull Brian A. 
Published: December 2002

AbstractPulmonary neuroendocrine cells (PNECs) have been implicated in the development of small cell lung carcinoma (SCLC) and pediatric asthma, and smoking is a risk factor for both diseases. We as well as others have shown that the α7 nicotinic acetylcholine receptor (α7 nAChR) regulates the release of 5‐hydroxytryptamine (5‐HT, serotonin) in PNECs and SCLC. Serotonin is an autocrine growth factor for PNECs and SCLC and acts as broncho‐constrictor. We found that nicotine and its nitrosated carcinogenic derivative 4‐(methylnitrosamino)‐1‐(3‐pyridyl)‐1‐butanone (NNK) bind to the α7 nAChR in SCLC and PNECs, resulting in the influx of Ca2+, release of 5‐HT, and activation of a mitogenic pathway mediated by protein kinase C (PKC), Raf‐1, mitogen activated protein kinase (MAPK) and c‐myc. Exposure to 10% CO2 acted synergistically. Unstimulated SCLC cells from smokers demonstrated high base levels of 5‐HT release and of individual downstream signaling components in comparison to PNECs. Subchronic exposure of PNECs to NNK up‐regulated the α7 nAChR and its associated serotonergic mitogenic pathway in PNECs, an effect that may contribute to the development of SCLC in smokers and pediatric asthma in children of mothers who smoke. Anat Rec Part A 270A:51–58, 2003. © 2003 Wiley‐Liss, Inc.
Mechanically altered embryonic chicken endothelial cells change their phenotype to an epithelioid phenotype
Authors: Arciniegas Enrique , Parada David , Graterol Armando 
Published: December 2002

AbstractMonolayers of retracted endothelial cells exhibiting wounds or zones denuded of cells were obtained from aortic explants from 10‐ to 12‐day‐old chicken embryos. Using time‐lapse videomicroscopy, we investigated the sequence of events that occurred both during and after closure of the monolayer wounds. Such wound closure (re‐endothelialization process) occurred 4–12 hr after removing the explants, depending on wound width and presence of serum. The cells from along the wound edges appeared to move toward one another. We suggest an important role for bFGF and TGFβ‐2 and ‐3 during this process. Twenty‐five hours after removal there were still some areas of retracted cells, and many of the cells displayed a weak von Willebrand's Factor (vWf) immunoreactivity. Surprisingly, after 63–65 hr many of the endothelial cells had become epithelioid in shape and the vWf immunoreactivity appeared increased. This epithelioid phenotype is currently considered typical of cultured vascular non‐muscle‐like cells and intimal thickening cells. By 5–7 days, the vast majority of cells in the monolayer had acquired an epithelioid morphology, showing a cobblestone appearance. These cells were significantly smaller than polygonal cells. Most importantly, they showed strong vWf immunoreactivity. At the edge of the monolayers we found that the majority of the cells had become epithelioid. Some of them detached from their neighbors and became round in shape and acquired mesenchymal characteristics, some expressing smooth muscle α‐actin (SM α‐actin). These findings demonstrate not only that embryonic endothelial cells that are transiently mechanically altered may change their phenotype to an epithelioid phenotype, but also that these cells may eventually transdifferentiate into mesenchymal cells expressing SM α‐actin. Since some aspects of endothelial cell behavior have been shown to be regulated by locally released growth factors such as TGFβ and FGF, we also investigated TGFβ‐2 and ‐3 and bFGF expression. Presence of TGFβ‐2 and ‐3 and bFGF‐immunoreactive epithelioid and mesenchymal cells indicates that these growth factors may be involved in the changes described. Anat Rec Part A 270A:67–81, 2003. © 2003 Wiley‐Liss, Inc.