bluuebunny/crossref_metadata_2025 huggingface dataset:
To Use or Not to Use: The Prenatal Genetic Technology/Worry Conundrum
Authors: Kenen Regina , Smith Ann C. M. , Watkins Carolee , Zuber‐Pittore Carol
Published: December 2002

We conducted an exploratory, qualitative study investigating the factors influencing the use of genetic counseling and prenatal genetic testing for two groups: pregnant women 35 years of age and over (AMA) at the time of delivery and pregnant women with an abnormal maternal serum triple screen (MSAFP3). The convenience sample consisted of 25 semistructured interviews of women/couples and 50 observations of genetic counseling sessions. Worry turned out to be the most important variable influencing decision making about prenatal genetic testing and was greater in the MSAFP3 group than in the AMA group. The women in the AMA group appeared to assign the risk of having a child with Down syndrome to their age category rather than to themselves individually, whereas, the risk perception for women with an abnormal MSAFP3 appeared to have shifted from a general population risk for pregnant women to an individual, personal risk. There was a general lack of understanding and also more misinformation about the MSAFP3 screen compared to amniocentesis. Women in both groups were torn between fear of an invasive test and worry about the health of their fetus for the rest of their pregnancy if they did not undergo amniocentesis.
Psychological Model for Presymptomatic Test Interviews: Lessons Learned from Huntington Disease
Authors: Soldan Jo , Street Eddy , Gray Jonathon , Binedell Julia , Harper Peter S.
Published: December 2002

This paper reflects on experience gained from presymptomatic testing for Huntington disease. An approach is presented which considers the role of the clinician and aims of the interview. Irrespective of the disease being tested for, it is suggested that the psychological aim of presymptomatic testing is to foster emotional insight and understanding that will help clients in their decision‐making process about testing and their subsequent adjustment to the result. Based on these aims the process of presymptomatic testing, counseling is considered in terms of clarification, consideration, education, and reflection, followed by decision making. Practical approaches are discussed and illustrated with clinical examples.
To Use or Not to Use: Male Partners' Perspectives on Decision Making About Prenatal Diagnosis
Authors: Kenen Regina , Smith Ann C. M. , Watkins Carolee , Zuber‐Pittore Carol
Published: December 2002

We conducted an exploratory, qualitative pilot study investigating the use of genetic counseling and prenatal genetic technologies between women and their male partners for two referral groups: pregnant women 35 years of age and over (AMA) at the time of delivery and pregnant women with an abnormal maternal serum triple screen (MSAFP3). The convenience sample consisted of 25 semistructured interviews and 50 observations of genetic counseling sessions. Male partners' styles of decision making and the way they viewed prenatal diagnosis decision making were examined. We defined three decision‐making styles based on our interpretation of the data: (1) domain, (2) joint‐delegated, and (3) saliency. The male partners also seemed to view prenatal diagnosis as either an information decision or an action decision and appeared to take a more active role in decision making when the decision was viewed as an action decision.
Factors Influencing Patients' Decisions to Decline Cancer Genetic Counseling Services
Authors: Geer Katherine P. , Ropka Mary E. , Cohn Wendy F. , Jones Susan M. , Miesfeldt Susan
Published: December 2002

Little is known about the factors influencing patients' decisions about whether to utilize cancer genetic counseling services. The purpose of this study is to identify potential barriers to broad utilization of such services. Of a total of 136 decliners of cancer genetic counseling services at our institution, 117 were deemed eligible to participate. Of these, 73 were randomly selected for study. A total of 37/73 (51%) agreed to participate in a semistructured telephone survey designed to assess the factors that impacted their decisions to decline cancer genetic counseling. An interview script, composed of both closed‐ and open‐ended questions, was used to direct the survey. Interviews were audiotaped. Responses to open‐ended questions were content analyzed. Of the participants, 34 were female and 36 were Caucasian. Seventy‐two percent of the participants were between ages 36 and 55 years. Participants cited the following reasons for choosing not to proceed with cancer genetic counseling: concern over health insurability for self or family (n = 15); cost (n = 12); emotional impact on self or family (n = 11); no perceived benefit (n = 11); and time commitment (n = 9). These data provide an understanding of patient's attitudes and concerns impacting their decisions to decline cancer genetic counseling. This information provides guidance for the development of interventions designed to limit barriers among patients referred for such services.
Verbal overshadowing in a multiple face presentation paradigm: effects of description instruction
Authors: Brown Charity , Lloyd‐Jones Toby J.
Published: December 2002

‘Verbal overshadowing’, the phenomenon whereby the verbal reporting of a visual memory of a face interferes with subsequent recognition of that face, arises for the presentation of multiple faces following a single face description (Brown and Lloyd‐Jones, 2002). We examine the influence of description instructions on verbal overshadowing using the new multiple presentation paradigm. Participants were exposed to 12 to‐be‐remembered faces and then described (or not, in the control condition) another face. Half the participants received ‘piecemeal’ description instructions, encouraging veridical recall of particular features of the face, and half received ‘elaborative’ instructions which did not explicitly focus on particular facial features, and encouraged erroneous recall of the face. Subsequently, participants discriminated the original 12 faces from 12 distracters in a ‘yes/no’ recognition decision. Verbal overshadowing was evident for piecemeal, but not elaborative recall instructions. We interpret these findings within a ‘transfer‐inappropriate retrieval’ framework (Schooler et al., 1997). Copyright © 2002 John Wiley & Sons, Ltd.
Verbal overshadowing in voice recognition
Authors: Perfect Timothy J. , Hunt Laura J. , Harris Christopher M.
Published: December 2002

An experiment examined the influence of three factors on the accuracy and confidence in voice identifications from a voice‐lineup. In a factorial design, participants either encoded the original voice deliberately or were exposed incidentally, either heard a normal voice, or a voice recorded through a telephone, and either described a target voice prior to the lineup or they did not. The method of encoding had no impact on performance, whilst hearing a telephone voice reduced confidence without impairing accuracy. Providing a verbal description impaired subsequent identification accuracy (a verbal overshadowing effect), without reducing confidence. Thus, these data demonstrate that verbal overshadowing can occur in voice recognition, and also provide another dissociation between confidence and performance. Copyright © 2002 John Wiley & Sons, Ltd.
Mazes and music: using perceptual processing to release verbal overshadowing
Authors: Finger Kimberly
Published: December 2002

Verbal overshadowing occurs when participants describe a previously viewed non‐verbal stimulus such as a face prior to a recognition memory test. The results of numerous studies indicate that recognition accuracy is lower when participants describe the face or other non‐verbal stimulus as compared to a no‐description control condition. In the present two‐experiment study, verbal overshadowing was alleviated when participants engaged in a non‐verbal task that emphasized perceptual processing subsequent to describing the face but prior to the recognition memory test. In Experiments 1 and 2, participants viewed a face and then either described the face or completed a distractor task. Next, participants in Experiment 1 engaged in a perceptual task in the form of a series of mazes or a verbal task. Participants who described the face and completed the mazes experienced a release from verbal overshadowing as compared to participants who described the face and completed the verbal task. In Experiment 2, verbal overshadowing was alleviated when participants listened to instrumental music after describing the face, thus demonstrating that an auditory perceptual task can also release verbal overshadowing. The results of these two experiments provide support for a processing shift interpretation of verbal overshadowing. Furthermore, the results indicate this shift can be alleviated, and perceptual processing reinstated, by engaging in an unrelated perceptually oriented task such as completing a maze or listening to music. Copyright © 2002 John Wiley & Sons, Ltd.
The effects of exemplar and prototype descriptors on verbal overshadowing
Authors: MacLin M. Kimberly
Published: December 2002

Previous research has found that providing a verbal description for a face impedes later recognition of that face. The current experiment evaluates how the type of information participants are asked to provide about the face affects later recognition. Participants provided attribute, exemplar or prototype information about a person they saw commit a videotaped crime. The verbal overshadowing effect was replicated for participants in the attribute condition. Exemplar participants reproduced this effect, while prototype participants performed nearly as well as controls. Theoretical and practical implications of the type of information witnesses are asked to provide are discussed. Copyright © 2002 John Wiley & Sons, Ltd.
Towards a procedure for eliciting verbal expression of non‐verbal experience without reactivity: interpreting the verbal overshadowing effect within the theoretical framework for protocol analysis
Authors: Ericsson K. Anders
Published: December 2002

The reactive effects of verbal overshadowing are discussed within Ericsson and Simon's (1980, 1984/1993) theoretical framework, which guided the design of procedures that elicit valid and non‐reactive verbal reports. These procedures encourage participants to give free verbal expression to their thoughts. In contrast, the procedures in the verbal overshadowing paradigm require participants to produce prescribed types of verbalizations. Participants are explicitly told how to verbally describe the face, namely ‘to describe each facial feature in as much detail as possible’ and to continue doing so for the full 5 minutes. The reactive effects of ‘verbal overshadowing’ can be linked to the requirement of producing prescribed types of verbalizations and are thus not caused merely by spontaneous verbal expression of one's thoughts. Copyright © 2002 John Wiley & Sons, Ltd.
The role of visual, spatial, and temporal cues in attenuating verbal overshadowing
Authors: Pelizzon Lara , Brandimonte Maria A. , Luccio Riccardo
Published: December 2002

In three experiments, we investigated the effects of visual, spatial, and temporal cues in attenuating verbal overshadowing derived from the verbal recoding of visual stimuli. Participants studied a set of visual forms and were asked to form an image of each figure, rotate it and try to discover the two capital letters compounding each figure. Before performing the imagery task, participants were re‐presented with a cue that was part of the original stimulus. In Experiment 1, verbal overshadowing effects were shown and attenuated through the re‐presentation of a visual cue. In Experiments 2 and 3, encoding and retrieval conditions were manipulated according to their temporal and spatial characteristics. In Experiment 2, the cue could be either visual (the cardboard shape), spatial–temporal (the number corresponding to serial learning position), or both. Presentation order of the cue at retrieval could be either congruent or incongruent with stimuli presentation order at encoding. In Experiment 3, the temporal and spatial components of the task were separated, by having participants encode the stimuli according to either their temporal or their spatial presentation order. At retrieval, participants received one of three types of cues (visual, order, or visual+order). The results suggest that order information acts as a link between the two separate representations of figure and background, hence preventing verbal overshadowing at encoding (temporal component) or attenuating its influence at retrieval (spatial component). Copyright © 2002 John Wiley & Sons, Ltd.
Lung cancer mortality in a Dutch cohort of asphalt workers: Evaluation of possible confounding by smoking
Authors: Hooiveld Mariëtte , Spee Ton , Burstyn Igor , Kromhout Hans , Heederik Dick
Published: December 2002

Background

Using data from a Dutch cohort of workers in road construction and asphalt mixing companies, this article describes possible confounding of the association between exposure to bitumen fume and lung cancer mortality by smoking.

Methods

A retrospective cohort of 3,714 workers with at least one season of employment was identified. Semi‐quantitative exposure to bitumen fume was assessed by a job‐exposure matrix. Information on smoking habits was available for a sub‐cohort of 1,138 workers, who underwent medical examinations by the occupational health services in the past.

Results

Smoking habits differed between occupational title groups and there was a positive association between cumulative exposure and smoking. Internal analyses using the non‐exposed subjects as reference category, showed a positive association between semi‐quantitative bitumen fume exposure and lung cancer risk. After adjusting for differences in smoking habits, all relative risks were reduced, but a weak positive association could still be observed.

Conclusion

Confounding by smoking on the association between exposure to bitumen fume and lung cancer mortality is possible, although the positive trend (not statistically significant) for lung cancer mortality remained. Only a nested case‐control study may allow proper treatment of potential (residual) confounding by smoking in this population. Am. J. Ind. Med. 43:79–87, 2003. © 2003 Wiley‐Liss, Inc.
Cancer morbidity in Swedish asphalt workers
Authors: Bergdahl Ingvar A. , Järvholm Bengt
Published: December 2002

Background

Some studies have indicated an increased risk of lung cancer among asphalt workers. This study investigates the risk of lung cancer in Swedish asphalt workers.

Methods

A cohort of 6,150 asphalt workers, mainly employed in road construction, was compared to the general population, and to a reference group of construction workers not exposed to asphalt fumes. The exposure to polyaromatic hydrocarbons (PAH) at paving in Sweden during the 1980s and 1990s were estimated to be in the order of one or a few micrograms per cubic meter, but must have been higher in earlier years.

Results

Thirty‐two lung cancer cases were observed among asphalt workers. The relative risk (SIR) and 95% confidence intervals were 0.98 (0.67–1.39). The corresponding relative risk, as compared to a group of construction workers and adjusted for smoking habits, was 1.03 (0.70–1.45). We found no increased risk for other cancers investigated or death in other lung diseases.

Conclusions

Asphalt workers do not have any increased lung cancer risk from exposure to fumes and gases from asphalt at the exposure levels that occurred in Sweden during the 1960s and 1970s. Am. J. Ind. Med. 43:104–108, 2003. © 2003 Wiley‐Liss, Inc.
Mortality and cancer incidence of workers in Finnish road paving companies
Authors: Kauppinen Timo , Heikkilä Pirjo , Partanen Timo , Virtanen Simo V. , Pukkala Eero , Ylöstalo Pekka , Burstyn Igor , Ferro Gilles , Boffetta Paolo
Published: December 2002

Background

This study, a component of the International Agency for Research on Cancer (IARC) Multicentric Study on Cancer Risk Among European Asphalt Workers, aimed at identifying major mortality risks among workers in Finnish road paving companies.

Methods

The Finnish cohort was comprised of 9,643 men and women from six road paving companies. The mortality of men employed during at least one season (5,676) was followed up from 1964 until end of 1994; an average of 17 years. Standardized mortality ratios (SMR) and relative risks (RR), the latter based on multivariate Poisson regression models were estimated by occupational group and by various metrics of occupational exposures.

Results

All‐cause mortality was elevated (SMR 1.11, 95% confidence interval, CI 1.03–1.20), mainly due to excesses in accidents, poisonings, and violence (1.29; CI 1.12–1.49), and lung cancer (1.38; 1.03–1.81). Workers exposed to bitumen fumes had a slightly elevated mortality from lung cancer (1.16; 0.69–1.83). Multivariate Poisson regression models with 15‐year lag period suggested trends by cumulative exposure to coal tar, organic vapors, silica dust, diesel exhaust, and bitumen fume.

Conclusions

The elevated mortality from external causes among Finnish building/ground construction workers was probably due to living conditions and related lifestyles. Some evidence was found for a risk of lung cancer due to occupational exposure, but the confirmation of these findings would require a longer follow‐up and improved control for confounding. Am. J. Ind. Med. 43:49–57, 2003. © 2003 Wiley‐Liss, Inc.
Performance of different exposure assessment approaches in a study of bitumen fume exposure and lung cancer mortality
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 Mariette , Brunekreef Bert , Langård Sverre , Randem Britt G. , Järvholm Bengt , Bergdahl Ingvar A. , Shaham Judith , Ferro Gilles , Kromhout Hans
Published: December 2002

Background

We compared performance of different exposure assessment approaches in a cohort study of cancer risk among European asphalt workers.

Methods

Three bitumen fume exposure indices (duration of exposure (years), average exposure (mg/m3) and cumulative exposure (mg/m3*years)) and two latency models (with and without a 15 year lag) were considered for an association between lung cancer mortality and bitumen fume.

Results

There was no association between lung cancer risk and either duration or cumulative exposure. However, there was the suggestion of an increase in lung cancer risk accompanying rise in average exposure. Only models with average bitumen fume exposure (with or without lag) improved model fit, albeit to the same extent.

Conclusions

Constructing quantitative indices of exposure intensity was justified because they produced the greatest improvement in fit of models that explored possible relationship between bitumen fume exposure and lung cancer risk. The identified associations require further investigation. Am. J. Ind. Med. 43:40–48, 2003. © 2003 Wiley‐Liss, Inc.
Cancer incidence among male Norwegian asphalt workers
Authors: Randem Britt Grethe , Langård Sverre , Dale Inge , Kongerud Johny , Martinsen Jan Ivar , Andersen Aage
Published: December 2002

Background

The main objective of the present study was to investigate whether exposure to bitumen fumes could enhance the risk of cancer in asphalt workers.

Methods

A historical prospective cohort study was performed including 8,763 male asphalt workers from all main asphalt companies in Norway. Name, date of birth, and unique personal identification number, address, job type, and start and stop of employment in specific jobs was obtained for the workers. Information was complied from payroll and personnel records in the companies. The cohort was then linked to the Cancer Registry of Norway, which has complete records of individual cases of cancer in the Norwegian population since 1953. Follow‐up was from 1 January 1970 to 31 December 1997. The 5‐year age and period adjusted general male population in Norway served as reference population.

Results

Lung cancer was found elevated with standardized incidence ratio (SIR) = 1.3 (95% confidence intervals (CI) = 1.1, 1.7) in the overall analysis. Lung cancer was found more elevated in workers first exposed in the 1950s and 1960s and in mastic asphalt workers (SIR = 4.2, 95% CI = 1.2, 10, based on four cases) and pavers (SIR = 1.4, 95% CI = 1.0, 1.9). There was a deficiency in the incidence of malignant melanoma with 13 cases versus 26 expected.

Conclusions

Risk of lung cancer was found enhanced among the asphalt workers. Some of the enhanced risk could probably be explained by the smoking habits of the workers. Exposure to coal tar may also have contributed to the enhanced risk. Am. J. Ind. Med. 43:88–95, 2003. © 2003 Wiley‐Liss, Inc.
Cancer mortality among European asphalt workers: An international epidemiological study. I. Results of the analysis based on job titles
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

Background

Inhalation of bitumen fumes is potentially carcinogenic to humans.

Methods

We conducted a study of 29,820 male workers exposed to bitumen in road paving, asphalt mixing and roofing, 32,245 ground and building construction workers unexposed to bitumen, and 17,757 workers not classifiable as bitumen workers, from Denmark, Finland, France, Germany, Israel, the Netherlands, Norway, and Sweden, with mortality follow‐up during 1953–2000. We calculated standardized mortality ratios (SMRs) and 95% confidence intervals (CIs) based on national mortality rates. Poisson regression analyses compared mortality of bitumen workers to that of building or ground construction workers.

Results

The overall mortality was below expectation in the total cohort (SMR 0.92, 95% CI 0.90–0.94) and in each group of workers. The SMR of lung cancer was higher among bitumen workers (1.17, 95% CI 1.04–1.30) than among workers in ground and building construction (SMR 1.01, 95% CI 0.89–1.15). In the internal comparison, the relative risk (RR) of lung cancer mortality among bitumen workers was 1.09 (95% CI 0.89–1.34). The results of cancer of the head and neck were similar to those of lung cancer, based on a smaller number of deaths. There was no suggestion of an association between employment in bitumen jobs and other cancers.

Conclusions

European workers employed in road paving, asphalt mixing and other jobs entailing exposure to bitumen fume might have experienced a small increase in lung cancer mortality risk, compared to workers in ground and building construction. However, exposure assessment was limited and confounding from exposure to carcinogens in other industries, tobacco smoking, and other lifestyle factors cannot be ruled out. Am. J. Ind. Med. 43:18–27, 2003. © 2003 Wiley‐Liss, Inc.
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

Background

An increased risk of lung cancers among asphalt workers has been suggested in epidemiological studies based on large scale statistical analyses.

Methods

In 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.

Results

The 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.

Conclusions

The 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

At 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

It 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

The 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

Toriello‐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

The 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

This 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

Children 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

The 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

Parity 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.
Long‐Distance Magnetic Interaction between a MnIIIMnIV (S=1/2) Core and an Organic Radical: A Spectroscopic Model for the S2Yz. State of Photosystem II
Authors: Marlin Dana S. , Bill Eckhard , Weyhermüller Thomas , Rentschler Eva , Wieghardt Karl
Published: December 2002

An excellent tool for gaining a better understanding of long‐distance exchange interactions in complicated systems, such as the S2YZ. state of photosystem II, is provided by a relatively simple model for similar interactions between a dimanganese core and an organic radical in the complex [(Me4dtne)MnIIIMnIV(μ‐O)2(μ‐O2CPhNIT)](ClO4)2. Dual‐mode EPR spectroscopy serves as an additional tool for determining the extent of these long‐distance dipolar coupling interactions. Me4dtne=1,2‐bis(4,7‐dimethyl‐1,4,7‐triazacyclonon‐1‐yl)ethane; HO2CPhNIT=2‐(4‐carboxyphenyl)‐4,4,5,5‐tetramethyl‐3‐oxyimidazolidin‐1‐oxide.
Actin‐Binding Marine Macrolides: Total Synthesis and Biological Importance
Authors: Yeung Kap‐Sun , Paterson Ian
Published: December 2002

Marine 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

Nonmyelinated (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

Innervated 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

The 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.