bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cancer mortality among European asphalt workers: An international epidemiological study. II. Exposure to bitumen fume and other agents
Authors: Boffetta Paolo , Burstyn Igor , Partanen Timo , Kromhout Hans , Svane Ole , Langård Sverre , Järvholm Bengt , Frentzel‐Beyme Rainer , Kauppinen Timo , Stücker Isabelle , Shaham Judith , Heederik Dick , Ahrens Wolfgang , Bergdahl Ingvar A. , Cenée Sylvie , Ferro Gilles , Heikkilä Pirjo , Hooiveld Mariëtte , Johansen Christoffer , Randem Britt G. , Schill Walter 
Published: December 2002

AbstractBackgroundAn increased risk of lung cancers among asphalt workers has been suggested in epidemiological studies based on large scale statistical analyses.MethodsIn a multi‐country study of 29,820 male workers employed in road paving, asphalt mixing and roofing, 32,245 ground and building construction workers and 17,757 other workers from Denmark, Finland, France, Germany, Israel, the Netherlands, Norway, and Sweden, with mortality that was documented from 1953–2000. Exposures to bitumen fume, coal tar, 4–6 ring polycyclic aromatic hydrocarbons, organic vapor, diesel exhaust, asbestos, and silica dust were assessed via a job‐exposure matrix. Standardized mortality ratios (SMRs) and 95% confidence intervals (CIs) based on national mortality rates, as well as relative risks (RRs) based on Poisson regression models were calculated.ResultsThe SMR of lung cancer among workers exposed to bitumen fume (1.08, 95% CI 0.99–1.18) was comparable to that of non‐exposed workers (SMR 1.05, 95% CI 0.92–1.19). In a sub‐cohort of bitumen‐exposed workers without exposure to coal tar, the SMR of lung cancer was 1.23 (95% CI 1.02–1.48). The analysis based on the semi‐quantitative, matrix‐based exposures in the whole cohort did not suggest an increased lung cancer risk following exposure to bitumen fume. However, in an analysis restricted to road pavers, based on quantitative estimate of bitumen fume exposure, a dose‐response was suggested for average level of exposure, applying a 15‐year lag, which was marginally reduced after adjustment for co‐exposure to coal tar. The results for cancer of the head and neck were similar to those of lung cancer, although they were based on a smaller number of deaths. There was no clear suggestion of an association with bitumen fume for any other neoplasm.ConclusionsThe results of the analysis by bitumen fume exposure do not allow us to conclude on the presence or absence of a causal link between exposure to bitumen fume and risk of cancer of the lung and the head and neck. Am. J. Ind. Med. 43:28–39, 2003. © 2003 Wiley‐Liss, Inc.
Donepezil for the treatment of language deficits in adults with Down syndrome: A preliminary 24‐week open trial
Authors: Heller James H. , Spiridigliozzi Gail A. , Sullivan Jennifer A. , Doraiswamy P. Murali , Krishnan Ranga R. , Kishnani Priya S. 
Published: December 2002

AbstractAt present, there is no proven pharmacologic treatment for cognitive or language impairments in Down syndrome (DS). Cholinergic deficits have been documented in DS and linked to cognitive deficits. This study is a 24‐week open‐label clinical trial of donepezil hydrochloride for the treatment of language deficits in adults with DS. To our knowledge, this is the first prospective study to evaluate systematically the effects of donepezil, a cholinesterase inhibitor, on specific language domains in DS. The main finding that emerged was an improvement in expressive language performance following donepezil therapy. Despite the multiple methodological limitations, the results raise important questions regarding the role of the cholinergic system in language function and the specific effect of cholinergic therapy in the treatment of language impairment in DS. The results support the need for large‐scale controlled studies of the effects of donepezil treatment on language and on other cognitive domains in DS. © 2002 Wiley‐Liss, Inc.
Mosaicism in a patient with Down syndrome reveals post‐fertilization formation of a robertsonian translocation and isochromosome
Authors: Bandyopadhyay Ruma , McCaskill Christopher , Knox‐Du Bois Cami , Zhou Yaolin , Berend Sue Ann , Bijlsma Emilia , Shaffer Lisa G. 
Published: December 2002

AbstractIt has been estimated that a few hundred children are born each year in the United States with translocation Down syndrome. About 5% of the cases with Down syndrome carry a Robertsonian translocation involving chromosome 21. The case described here is a patient with Down syndrome who showed mosaicism for two cell lines. Each cell line contains a different, de novo acrocentric rearrangement. We constructed somatic cell hybrids from the patient's cells and determined the parental origins of the rearrangements by molecular and fluorescence in situ hybridization (FISH) analyses. The analysis showed that the rob(14q21q) formed between a paternally inherited chromosome 21 and a maternally inherited chromosome 14, indicating that this rearrangement formed post‐zygotically. Further molecular analysis also determined that the rea(21q21q) is an isochromosome of paternal origin. The cell line containing the isochromosome is unbalanced, resulting in trisomy 21. Because the same paternal chromosome 21 was involved in both the isochromosome and the Robertsonian translocation, we speculate that an unstable chromosome 21 was stabilized either through formation of a rob(14q21q) or through formation of an isochromosome. The mechanism proposed for the formation of the rob(14q21q) in this case is different from that for most de novo rob(14q21q), but similar to a previously reported mosaic case of Down syndrome. © 2002 Wiley‐Liss, Inc.
Scimitar vein anomaly with multiple cardiac malformations, craniofacial, and central nervous system abnormalities in a brother and sister: Familial scimitar anomaly or new syndrome?
Authors: Ruggieri Martino , Abbate Mauro , Parano Enrico , Distefano Angela , Guarnera Salvatore , Pavone Lorenzo 
Published: December 2002

AbstractThe scimitar vein “syndrome” is an anomaly of lobar aplasia or hypoplasia and total or partial anomalous venous drainage of one lung. We report a brother and sister born to nonconsanguineous Italian parents with a fatal infantile form of scimitar vein anomaly associated to multiple cardiac anomalies. The infants had major craniofacial anomalies. In addition, the boy had iris coloboma and enlarged cisterna magna; both sibs showed poor brain myelination at neuroimaging confirmed by histopathology in the girl. The cardiovascular system in the family members was fully investigated and all results were completely normal. The association of the above craniofacial anomalies has been occasionally mentioned in syndromes with anomalous venous return. The familial occurrence of isolated total anomalous pulmonary venous return has been documented in sibs, first cousins, and through consecutive generations. Familial pulmonary hypoplasia, as an isolated finding, has been observed in siblings and twins. To the best of our knowledge, even though five familial cases of scimitar “syndrome” have been described thus far, the constellation of anomalies shown by these two sibs has not been reported previously. It appears that scimitar vein “syndrome” is not a “syndrome” per se: it is most likely an anomaly of heterogeneous etiology. This family may represent its own novel syndrome of multiple congenital anomalies of which scimitar vein is a component. © 2002 Wiley‐Liss, Inc.
Further delineation of the Toriello‐Carey syndrome: A report of two siblings
Authors: Barisic Ingeborg , Peter Branimir , Mikecin Lili 
Published: December 2002

AbstractToriello‐Carey is a rare multiple malformation/mental retardation syndrome characterized by dysmorphic features, including telecanthus/hypertelorism, short palpebral fissures, a small nose with anteverted nares, malformed ears, and a Pierre Robin sequence. Affected patients also show several other important signs of midline field disruption: agenesis of the corpus callosum, laryngeal anomalies, and congenital heart defects. Hypotonia and developmental delay are present in most reported cases. Autosomal recessive inheritance was proposed, but an X‐linked or sex‐influenced gene disorder was also suspected. We report on two siblings, a brother and sister, supporting further an autosomal recessive type of inheritance. Both patients had severe clinical presentation with death in early infancy. Besides clinical findings typical for this condition, they showed additional traits, expanding further the phenotypic spectrum. A specific malformation pattern observed in the patients presented and, in the previously reported cases, suggests an early midline developmental field disruption, presumably caused by a developmental regulatory gene mutation. © 2002 Wiley‐Liss, Inc.
Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation
Authors: Wessels M.W. , Los F.J. , Frohn‐Mulder I.M.E. , Niermeijer M.F. , Willems P.J. , Wladimiroff J.W. 
Published: December 2002

AbstractThe outcome of Down syndrome fetuses presenting with sonographic abnormalities in the second or third trimester is unclear. Therefore, we studied 55 pregnancies referred because of sonographically suspected fetal structural anomalies or growth retardation due to trisomy 21. A detailed ultrasound scan was performed in all cases to delineate the structural anomalies. Congenital heart malformations (CHMs) were diagnosed pre‐ and postnatally in 29 out of 55 Down fetuses (53%), with complete or incomplete atrioventricular septal defects (AVSDs) and ventricular septal defects (VSDs) being the most frequent anomalies. The most frequent noncardiac findings were a short femur (45%) and a small‐for‐gestational age (SGA) fetus (27%). Termination of pregnancy was carried out in 25 out of 55 pregnancies (45%). Of the 30 continued pregnancies, 10 ended with intrauterine death. The remaining 20 pregnancies resulted in the delivery of a live‐born infant whose prognosis was poor, with a 1‐year survival of only 60%. Combining intrauterine death and death in the first year indicated that the overall survival rate was only 40%. Fatal outcome was noted in 68% (13/19) in the presence of CHM, in 83% (10/12) in SGA fetuses, in 86% (6/7) in combined CHM and SGA, but only in 17% (1/6) in the absence of CHM and SGA. This study indictes that second‐ and third‐trimester in utero diagnosis of Down syndrome has a poor outcome when associated with CHM and/or SGA. This is important in the genetic counseling of the parents. © 2002 Wiley‐Liss, Inc.
Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects
Authors: Derbent Murat , Yılmaz Zerrin , Baltacı Volkan , Saygılı Arda , Varan Birgül , Tokel Kürşat 
Published: December 2002

AbstractThis report describes the dysmorphic features and frequency of 22q11.2 deletion (del22q11) in 30 Turkish patients with conotruncal heart defects (CTHDs). Fluorescence in situ hybridization (FISH) analysis revealed deletions in the 22q11.2 region in nine (30%) individuals. The CTHDs in this group were tetralogy of Fallot (four cases), double‐outlet right ventricle (DORV) (two cases), transposition of great arteries (two cases), and ventricular septal defect (VSD) associated with other CTHDs (one case). The frequency of del22q11 in the study group was relatively high because many of the patients with dysmorphic findings also had cardiac anomalies involving the pulmonary artery, ductus arteriosus, or the aortic arch and its main branches. Twenty of the 30 patients exhibited several dysmorphic findings. Two of the nine patients with del22q11 exhibited no apparent dysmorphic features other than sacral dimple. Interestingly, one of the patients with del22q11 had a phenotypic appearance similar to that seen in oculo‐auriculo‐vertebral spectrum (OAVS). This individual had left microtia, atresia of the external meatus, mandibular asymmetry, and peripheral facial nerve paralysis. His mental development was normal and there were no abnormalities on ophthalmological examination. The CTHDs in this patient were situs inversus dextrocardia, DORV, pulmonary stenosis, and VSD. Radiographs of this patient showed platybasia, complete fusion of C2–C3, and posterior fusion of the T1‐T2 vertebrae. This particular case indicates that the phenotypic features of del22q11 and OAVS may overlap. © 2002 Wiley‐Liss, Inc.
Genetic testing for hereditary colorectal cancer in children: Long‐term psychological effects
Authors: Codori Ann‐Marie , Zawacki Kristin L. , Petersen Gloria M. , Miglioretti Diana L. , Bacon Judith A. , Trimbath Jill D. , Booker Susan V. , Picarello Kimberly , Giardiello Francis M. 
Published: December 2002

AbstractChildren who carry a gene mutation for familial adenomatous polyposis are virtually certain to develop colorectal cancer without annual endoscopic screening and a colectomy when polyps appear. Predictive genetic testing can identify children who need regular surveillance. While the medical benefits of genetic testing are clear, the psychological effects have not been well studied. We evaluated the long‐term psychological effects of genetic testing in 48 children and their parents. In each family, one parent was a known APC gene mutation carrier. Before genetic testing, and three times afterward, participants completed measures of psychological functioning, which, for children, included depression and anxiety symptoms, and behavior problems and competencies. Parents completed a measure of depression symptoms. Data were collected at 3‐, 12‐, and 23–55 months after disclosure. Twenty‐two children tested positive; 26 children tested negative. Mean length of follow‐up was 38 months. There were no clinically significant changes in mean psychological test scores in children or parents, regardless of the children's test results or the sex of the affected parent. However, the group of children who tested positive and had a mutation‐positive sibling showed significant, but subclinical, increases in depression symptoms. Furthermore, several individual mutation‐negative children with a positive sibling had clinical elevations in anxiety symptoms at one or more follow‐up. Behavior problems declined for all groups, and behavior competence scores remained unchanged. We conclude that most children do not suffer clinically significant psychological distress after testing. However, because some children showed clinically significant anxiety symptoms, long‐term psychological support should be available to those families with both mutation‐positive and mutation‐negative children, and with multiple mutation‐positive children. Our findings should call for a multidisciplinary approach to genetic testing for children. © 2002 Wiley‐Liss, Inc.
Cover Picture: Angew. Chem. Int. Ed. 24/2002
Authors: Marlin Dana S. , Bill Eckhard , Weyhermüller Thomas , Rentschler Eva , Wieghardt Karl 
Published: December 2002

AbstractThe cover picture shows the structure of a paramagnetic dimanganese complex tethered to a distant organic radical. The long‐distance magnetic interaction between the two S=1/2 centers in this complex models a similar situation detected in the S2Yz. state of photosystem II (PSII). In their article on page 4775, D. S. Marlin, E. Bill, and K. Wieghardt et al. shed light on the nature of this interaction through the use of SQUID magnetic measurements as well as dual‐mode X‐band EPR spectroscopy. One of the most remarkable features observed from such dual‐mode EPR measurements is the identification of well‐resolved “forbidden” half‐field multiline signals at g=4 that arise from the dipolar coupling. This latter feature may also be noteworthy in the context of a poorly understood signal at g=4.1 that has been observed in various EPR spectra of PSII.
How Important is Parity Violation for Molecular and Biomolecular Chirality?
Authors: Quack Martin 
Published: December 2002

AbstractParity violation leads to energy differences ΔpvH$\rm{_{0}^{\ominus }}$=NAΔpvE of enantiomers in the femtojoule to picojoule per mole range. Recently introduced methods of electroweak quantum chemistry predict such energy differences to be one to two orders of magnitude larger than previously accepted—but still very small. How can such small energies be measured and what are the consequences for our understanding of molecular chirality, biomolecular homochirality, and perhaps fundamental physics? The review gives some tentative answers to these questions. We discuss the current status of theory and some of the current experimental approaches.
Actin‐Binding Marine Macrolides: Total Synthesis and Biological Importance
Authors: Yeung Kap‐Sun , Paterson Ian 
Published: December 2002

AbstractMarine organisms produce a fascinating range of structurally diverse secondary metabolites, which often possess unusual and sometimes unexpected biological activities. This structural diversity makes these marine natural products excellent molecular probes for the investigation of biochemical pathways. Recently, a number of novel and stereochemically complex macrolides, having a large macrolactone (22‐ to 44‐membered) ring, that interact with the actin cycloskeleton have been isolated from different marine sources. Actin, like tubulin, is a major component of the cytoskeleton and has important cellular functions. Although the details of these interactions are still under investigation, these marine macrolides are becoming increasingly important as novel molecular probes to help elucidate the cellular functions of actin. Owing to their potent antitumor activities, these compounds, for example the aplyronines, also have potential for preclinical development in cancer chemotherapy. Their appealing molecular structures, with an abundance of stereochemistry, and biological significance, coupled with the extremely limited availability from the marine sources, have stimulated enormous interest in the synthesis of these compounds. This review summarizes the biological properties of these unusual marine natural products and features the recently completed total syntheses of swinholide A, scytophycin C, aplyronine A, mycalolide A—all of these being potent cytotoxic agents that target actin—and a diastereoisomer of ulapualide A. Rather than detailing each individual step of these multistep total syntheses, the different synthetic strategies, key reactions, and methods adopted for controlling the stereochemistry are compared.
Functional morphology and physiological properties of bronchopulmonary C‐fiber afferents
Authors: Lee Lu‐Yuan , Shuei Lin You , Gu Qihai , Chung Eleanor , Ho Chin‐Yin 
Published: December 2002

AbstractNonmyelinated (C‐) fibers represent the majority of vagal afferents innervating the airways and lung, and play an important role in regulating the respiratory and cardiovascular functions under both normal and abnormal physiologic conditions. Studies of the relationship between the conduction velocities of the vagal afferents and their sensitivities to capsaicin and other chemical irritants reveal that C‐fibers are the primary type of chemosensitive afferents in the rat lung. Furthermore, a distinct sensitivity to capsaicin and a weak response to lung inflation are the defining characteristics of these afferents. In cultured rat nodose and jugular ganglion neurons, capsaicin‐sensitive cells were identified by measurement of the capsaicin‐evoked calcium transients using the Fura‐2‐based ratiometric imaging technique. The percentage of capsaicin‐sensitive neurons gradually decreases as the cell diameter increases. However, the capsaicin‐sensitive neurons cannot be precisely identified solely on the basis of the cell size. Anandamide, an endogenous cannabinoid released from leukocytes and epithelial cells, consistently evokes a stimulatory effect on pulmonary C‐fiber endings by activating vanilloid receptor type 1 (VR1). The discharge pattern of pulmonary C‐fibers evoked by anandamide closely resembles that produced by a much lower (∼1/600) dose of capsaicin in the same fibers. Whether anandamide acts as a potential endogenous ligand to VR1 at the C‐fiber terminals is unclear, and the physiological role of VR1 in modulating the transduction properties of these afferents also remains to be determined. Anat Rec Part A 270A:17–24, 2003. © 2003 Wiley‐Liss, Inc.
Functional morphology of pulmonary neuroepithelial bodies: Extremely complex airway receptors
Authors: Adriaensen Dirk , Brouns Inge , Van Genechten Jeroen , Timmermans Jean‐Pierre 
Published: December 2002

AbstractInnervated groups of neuroendocrine cells, called neuroepithelial bodies (NEBs), are diffusely spread in the epithelium of intrapulmonary airways in many species. Our present understanding of the morphology of NEBs in mammalian lungs is comprehensive, but none of the proposed functional hypotheses have been proven conclusively. In recent reviews on airway innervation, NEBs have been added to the list of presumed physiological lung receptors. Microscopic data on the innervation of NEBs, however, have given rise to conflicting interpretations. Using neuronal tracing, denervation, and immunostaining, we recently demonstrated that the innervation of NEBs is much more complex than the almost unique vagal nodose sensory innervation suggested by other authors. The aim of the present work is to summarize our present understanding about the origin and chemical coding of the profuse nerve terminals that selectively contact pulmonary NEBs. A thorough knowledge of the complex interactions between the neuroendocrine cells and at least five different nerve fiber populations is essential for defining the position(s) of NEBs among the many pulmonary receptors characterized by lung physiologists. Anat Rec Part A 270A:25–40, 2003. © 2003 Wiley‐Liss, Inc.
Acute oxygen sensing in cellular models: Relevance to the physiology of pulmonary neuroepithelial and carotid bodies
Authors: Kemp Paul J. , Searle Gavin J. , Hartness Matthew E. , Lewis Anthony , Miller Paula , Williams Sandile , Wootton Phillippa , Adriaensen Dirk , Peers Chris 
Published: December 2002

AbstractThe combination of studies in native tissues and immortalised model systems during the last decade has made possible a deeper understanding of the physiology and functional morphology of arterial and airway oxygen sensors. Complementary and overlapping information from these earlier studies has allowed a detailed description of the cellular events that link decreased environmental oxygen to the release of physiologically important vasoactive transmitters. Since these basic pathways have now been defined functionally, what remains to be determined is the molecular identity of the specific proteins involved in the signal transduction pathways, and how these proteins interact to produce a full physiological response. With these goals clearly in sight, we have embarked upon a strategy that is a novel combination of proteomics and functional genomics. It is hoped this strategy will enable us to develop and refine the initial models in order to understand more completely the process of oxygen sensing in health and disease. Anat Rec Part A 270A:41–50, 2003. © 2003 Wiley‐Liss, Inc.