bluuebunny/crossref_metadata_2025 huggingface dataset:
Journalistic practices and science reporting in the British press
Authors: Hansen Anders
Published: August 2002

Newspaper coverage of science is governed and shaped by both macro-level factors such as ownership and cultural resonances, and by the more micro-level factors of journalistic practices, professional values, and organizational arrangements. This study examines the characteristics and professional practices of specialist journalists involved in the coverage of science, medicine and related subjects in the British national press. It shows that they share many of their characteristics with specialist journalists in other areas: they value journalistic professionalism and skill more highly than formal training in their particular field of specialist reporting; they deploy conventional news-value criteria, but emphasize in particular the importance of a `relevance to the reader' criterion in the selection of science news; they deploy elaborate routines for securing the credibility of their reporting, including the active cultivation of a relationship of mutual trust with their sources, and a source-orientation which is distinctly institutionally- and authority-focused. Popular and quality press journalists hold clearly different images of their target audiences, although for both categories of journalists the image of the readers owes more to journalistic judgement and casual feedback than to systematic readership data. The overriding key to understanding the work of these specialists is to recognize that they are, in their practices and professional beliefs, journalists first and specialists second.
Medical journalists and expert sources on medicines
Authors: van Trigt Anke M. , de Jong-van den Berg Lolkje T. W. , Haaijer-Ruskamp Flora M. , Willems Jaap , Tromp T. (Dirk) F. J.
Published: August 2002

We describe here how medical journalists writing for Dutch daily newspapers use experts when dealing with medicines. Two approaches, interviews and content analysis, were used to answer the research questions. Both methods show that journalists can find relevant experts to give them information about various medicines. The pharmacist, however, is not one of them. Furthermore, the content analysis shows that two types of experts can be distinguished: the objective and independent experts who were often cited alone in an article, and the subjective experts who frequently were cited in combination with other experts.
A comparison of public and professionals' attitudes towards genetic developments
Authors: Michie Susan , Drake Harriet , Marteau Theresa , Bobrow Martin
Published: August 2002

This study assesses the attitudes of the general public and of three professional groups to: genetic developments: the desired scope and availability of genetic testing in pregnancy; and decision-making about availability. Questionnaires were sent to 163 professionals and given directly to 973 members of the public by Gallup. Genetic developments were found to evoke both positive and negative feelings in all groups, but with the public being less positive overall than the professional groups. All groups endorsed the use of prenatal genetic screening and the offer of termination for serious conditions, but not for minor physical problems nor for non-disease characteristics. 54% of the general public did not want experts involved in decisions about the availability of new genetic tests, although 78% of professionals thought regulation should be by an advisory group including experts and members of the public. We need to develop ways of integrating public and professional views if the best decisions are to be made.
Science journalism in Australia
Authors: Metcalfe Jenni , Gascoigne Toss
Published: August 2002

This paper considers the trends and current realities of science journalism in Australia. It also examines the role that science journalism is playing in setting the agenda for media coverage of science and technology in Australia, and the influence of that coverage in developing an informed public willing to be involved in science debates. Surveys show that media attention to science and technology has increased considerably over the past decade. Yet coverage seems shallow and technology-based, and does not appear to have succeeded in making a real impact on people or in changing the ways they think about science and technology and its impact on their lives. The challenges currently facing science journalism in Australia include: the need for more in-depth and critical analysis of science and technology; overcoming the negative or trivial perceptions of editors, chiefs of staff, news directors and other gatekeepers about the importance of science and technology stories; and integrating science and technology with social, economic and political issues.
Interactions between the formal UK school science curriculum and the public understanding of science
Authors: Hutton Neil
Published: August 2002

The debate about the public understanding of science has taken place at a time when science education in UK schools has undergone significant change. This paper examines some of the features pertinent to the two areas. The aims of school science education are shown to be generally consistent with those cited for increasing the public understanding of science. A comparison is made between the science occurring in the public domain of newspapers with that included in the formal curriculum. A large degree of complementarity is noted leading to the conclusion that schoolchildren's exposure to newspaper science can be beneficial to their formal education. The rationale of journalists in writing about science is considered and the issue of relevance is shown to be consistent with the perceived needs of schoolchildren.
Improving girls' attitudes towards science
Authors: Schmidt Bonnie M. , Nixon Richard Mark
Published: August 2002

This study evaluated the effect of an outreach project, called the `Scientist Badge for Brownies and Girl Guides', on science attitudes and achievement of girls aged 6-12. The programme reached nearly 1500 girls and consisted of ninety minutes of hands-on activities led by university science student volunteers. Participation appeared to improve the image of scientists held by all girls, but especially in the case of the older Girl Guides. Responses to specific statements designed to assess science attitudes appeared to be age-related: compared to older girls, fewer young participants believed that they will be hurt doing science and more believed that they should participate in regular science activities during their meetings. Although all participants enjoyed the programme, there was a steady decline in confidence in their own scientific ability, with obvious drops at ages 8 and 10. It appears that a small effort by volunteers can have a significant impact on both science achievement and attitude of young girls; however, more effort is required to improve the confidence of a group which is at serious risk of avoiding science.
The popularization of science through citizen volunteers
Authors: Hartman John
Published: August 2002

This naturalistic inquiry examines the epistemological role of textual and conversational rhetoric between specialized scientists and citizen volunteers who work interdependently conducting research in the environmental sciences. Specifically, the everyday actions of Earthwatch Principal Investigators (PIs) are explored to identify rhetorical forms and functions of popularization employed during daily communication with citizen volunteers. In this unique opportunity to examine scientists communicating directly with the public during the actual process of research, insights are gained in relation to science production and representation. Interviews and materials of eight PIs reflect three alternative rhetorics: Inviting/Egalitarian, Social/Adventure and Technical/Normative. These rhetorics are examined from socialepistemological perspectives1 in order to consider their democratic implications.
The public—expert interface in local waste management decisions: expertise, credibility and process
Authors: Petts Judith
Published: August 2002

Decision-making strategies which favour the top-down model do not recognize expertise as a communication and learning process, and have been seen to fail in many risk management contexts, in particular in local waste management decision-making. Examination of a novel public involvement programme in the development of a local waste strategy provides an opportunity to understand expertise as a process: in particular, (i) how expert knowledge is selected at the technical-democratic interface, (ii) how information is shaped and balanced, and (iii) whether knowledge shifts during processes of exposure to expertise. It provides evidence that counters expert views that the public are irrational, lack interest, and are concerned only about zero-risk options. Most importantly, it provides evidence that expertise is inextricably linked to its source, and that perceptions that expertise is not independent have a significant impact on public responses. Means to optimize the process of expertise are discussed.
The Human Genome Project and public policy
Authors: Evans Glen A.
Published: August 2002

The Human Genome Project is a massive government and privately funded undertaking to sequence the entire human genome and discover all 80,000 human genes in less than 15 years. As the project nears completion in the first decade of the 21st century, the ramifications of public availability of this vast amount of biological information are likely to pervade society. The legal, ethical and social issues raised by the genome project and associated biological research are expected to have a profound and long lasting impact on daily life. How society deals with the many emerging issues involving genetic privacy, designer babies, and the transformation of medical care among others will be a major focus of public and governmental discussion in the next decade.
The use of genetic information and public accountability
Authors: Zimmerman Burke K.
Published: August 2002

With the explosion in new technologies that heralded the end of the 20th century, enabling the rapid gathering and analysis of genetic information from humans and the multitude of other organisms with which they interact on this planet, we are now in a position not only to understand the details of everyone's genetically determined features, but to manipulate them to our own design. The implications of the power of such knowledge are indeed profound, demanding that the developers and users of the technology spawned by this revolution apply it according to the terms of a new social contract to be negotiated with the public at large. The means by which industries and medical practitioners educate the public consumers, and the mechanisms by which the public, through the institutions of democratic government and other modes of communication, makes its concerns and desires a functional part of the equation, are being determined. To establish processes for both, with the flexibility to accommodate individual and collective values that are highly time-dependent, is a major challenge of the 21st century. Applications of genetic data are examined with respect to professional responsibility, the possibility of deliberate misuse, the principle of autonomy, and distributive justice.
And man descended from the sheep: the public debate on cloning in the Italian press
Authors: Neresini Federico
Published: August 2002

Investigating the development in the Italian press of the public debate on cloning after the announcement of the Dolly's birth allows one to trace and analyze the growing acceptance of mammal cloning as a scientific fact, at least at the media level. This analysis is focused mainly on the increasingly expanding network of issues interlinked with cloning within the “public space” created by the media and on the interaction among the various social actors who, motivated by the most divergent yet incredibly convergent interests, support these issues. Our analysis allows us to show not only the actors' different positions about cloning, but even how they contribute to establishing mammal cloning as a scientific fact. For this analysis, the perspective adopted refers mainly to the actor-network theory (ANT). The nearly 100 articles published in the two most widely read Italian newspapers over the period in which cloning remained front-page news in 1997 have been analyzed to assess the extent of their coverage and then subjected to a content analysis to determine their coverage of the network of issues and social actors involved in the debate.
Science centers are thriving and going strong!
Authors: Persson Per-Edvin
Published: August 2002

In a critique of the science center movement, J. M. Bradburne (in Public Understanding of Science 7, no. 3 [July 1998]: 237-253) maintained that science centers were unwilling to adapt, and were therefore doomed. In this response, the author shows that science centers are adapting and changing. Science center attendance is growing worldwide, both in old and new institutions. Science centers typically operate from buildings, while providing services outside the site. There is a wide range of inventiveness in selecting sites, and, as a result, determining capital expenditure. Science centers are comparatively cost effective and viable. They typically depend on several sources of revenue. Through several examples, evidence of change in science centers is presented. Science centers likewise tend to have an individual flavor in different parts of the world. Science centers are attractive and competitive, and they cater to local audiences. Present day science centers should be considered third generation museums. The emphasis on hands-on exhibits in science centers may have limited the way in which science is depicted in science centers. Taken as a whole, science centers seem to be both sustainable and to provide value for money.
Coordination chemistry of metal tetrapyrrole complexes — unusual geometries and stoichiometries
Authors: BUCHLER JOHANN W.
Published: August 2002

Sets of metal tetrapyrrole complexes are presented in which unusual geometries and/or stoichiometries occur as compared with the usual distorted octahedral structures and molar 1:1 ratio of metal and tetrapyrrole ligand normally found in metal complexes of porphyrins, phthalocyanines or other tetrapyrrole ligands (hydroporphyrins, corroles, etc.).
The relationship between social problem‐solving and bullying behaviour among male and female adult prisoners
Authors: Ireland Jane L.
Published: August 2002

The association between social problem solving and bullying behaviour among adult male and female prisoners is presented. A total of 210 male and 196 female prisoners were categorised into four groups: pure bullies, pure victims, bully/victims, and those not involved in bullying or victimisation. Prisoners completed a questionnaire that presented them with different bullying scenarios and were asked to suggest ways of dealing with each. Female bully/victims produced significantly more solutions in response to theft‐related bullying than male bully/victims. There were no further significant group or gender differences in the number of solutions generated. The bully group favoured aggressive responses for all scenarios. Males reported more aggressive responses than females. The results are discussed with reference to the environment in which the social problem solving is taking place and highlights the importance of distinguishing between the different groups involved in bullying. Aggr. Behav. 27:297–312, 2001. © 2001 Wiley‐Liss, Inc.
Thinking politically: A framework for adult and continuing education
Authors: Sissel Peggy A.
Published: August 2002

An analysis of the political aspects of adult education reveals multiple ways of examining the policies, programs, and practices that shape the roles of adult educators. This chapter presents a framework designed to encourage critical reflection about how the political landscape affects adult educators' work and lives, as well as ways that adult educators can affect change in that terrain.
Pre‐school children remembering unpleasant events: complying with the unwritten rules of an invisible game
Authors: Sjöberg Rickard L.
Published: August 2002

Forty‐eight children between the ages 5 and 7 were as part of a standardized interview asked whether they had ever had the impression that they had met a ghost. Twenty‐six children were explicitly told to separate fantasy and reality when answering, whereas the remaining children were not. This instruction significantly reduced the number of alleged encounters with ghosts. It is concluded that children who are asked whether they have been part of events which they regard as fantastical might perceive the rules by which fantasy and reality should be separated as temporarily altered by the interviewer. Copyright © 2001 John Wiley & Sons, Ltd.
Pulmonary leukostasis: Role of perfusion lung scan in diagnosis and follow up
Authors: Szyper‐Kravitz M. , Strahilevitz J. , Oren V. , Lahav M.
Published: August 2002

A patient with hyperleukocytic myelomonocytic leukemia who presented to the emergency room with sudden pleuritic chest pain and dyspnea is reported. Clinical manifestations included dyspnea tachypnea and hyperventilation. Blood gas analysis revealed hypoxemia, hypocarbia, and respiratory alkalosis. Chest X ray was normal, and perfusion lung scan revealed a diffuse vascular occlusive pattern compatible with pulmonary leukostasis. The patient underwent immediate leukapheresis with subsequent mitigation of symptoms. A second perfusion lung scan showed evidence of significant improvement. To our knowledge this is the first published case of hyperleukocytosis presenting with pulmonary leukostasis that was successfully diagnosed and followed by serial perfusion lung scan. Am. J. Hematol. 67:136–138, 2001. © 2001 Wiley‐Liss, Inc.
Thiotepa, busulfan, and cyclophosphamide as a preparative regimen for allogeneic transplantation for advanced myelodysplastic syndrome and acute myelogenous leukemia
Authors: Bibawi Samer , Abi‐Said Dima , Fayad Luis , Anderlini Paolo , Ueno Naoto T. , Mehra Rakesh , Khouri Issa , Giralt Sergio , Gajewski James , Donato Michelle , Claxton David , Braunschweig Ira , van Besien Koen , Andreeff Michael , Andersson Borje S. , Estey Elihu H. , Champlin Richard , Przepiorka Donna
Published: August 2002

Sixty‐two adults underwent marrow or blood stem cell transplantation from an HLA‐matched related donor using high‐dose thiotepa, busulfan, and cyclophosphamide (TBC) as the preparative regimen for treatment of advanced myelodysplastic syndrome (MDS) (refractory anemia with excess blasts with or without transformation) or acute myelogenous leukemia (AML) past first remission. All evaluable patients engrafted and had complete donor chimerism. A grade 3–4 regimen‐related toxicity occurred in eight (13%) patients, and a diagnosis of MDS was the only independent risk factor for grade 3–4 regimen‐related toxicity (hazard ratio 9.25,P= 0.01). Day‐100 treatment‐related mortality (TRM) was 19%. Poor‐prognosis cytogenetics increased the risk of day‐100 TRM (hazard ratio 11.4,P= 0.003), and use of tacrolimus for graft‐versus‐host disease prophylaxis reduced the risk of day‐100 TRM (hazard ratio 0.13,P= 0.027). For all patients, the three‐year relapse rate was 43% (95% CI, 28%–58%). Refractoriness to conventional induction chemotherapy prior to transplantation was an independent risk factor for relapse (hazard ratio 10.8,P= 0.02). Three‐year survival was 26% (95% CI, 14%–37%); survival rates were 29% for those transplanted for AML in second remission, 31% transplanted for AML in relapse, and 17% with MDS, and there were no independent risk factors for survival. TBC is an active preparative regimen for advanced AML. Patients with advanced MDS appeared to have a higher risk of toxicity and early mortality, and alternative preparative regimens should be considered for these patients. Am. J. Hematol. 67:227–233, 2001. © 2001 Wiley‐Liss, Inc.
Massive plasmocytosis due to methimazole‐induced bone marrow toxicity
Authors: Breier D.V. , Rendo P. , Gonzalez J. , Shilton G. , Stivel M. , Goldztein S.
Published: August 2002

Pancytopenia is a rare complication of the thionamide therapy reported secondary to aplastic anemia, the bone marrow being invariably hypocellular. We present a case of a 16‐year‐old female with Graves' disease who presented with massive bone marrow plasmocytosis mimicking multiple myeloma. The patient had already been on methimazole for a month when she was admitted to the Pediatric Unit with the diagnosis of sepsis. CBC revealed pancytopenia. Bone marrow aspirations showed hypocellular–normocellular bone marrow, 98% of plasma cells. At that time, MMI was discontinued and the patient was started on broad‐spectrum antibiotics, dexamethasone, and G‐CSF. Bone marrow aspiration day +4 still showed hypo‐normocellular marrow, with remaining 6% plasma cells. Myeloma screen was negative; ANC >1,000 at day +7, platelets >50,000 at day +24. Twenty‐four months after patient's discharge, her clinical condition, CBC, and bone marrow remained normal. To our knowledge this is the first report of pancytopenia due to MMI, where the usual hypoplasia found is replaced by massive plasmocytosis. Am. J. Hematol. 67:259–261, 2001. © 2001 Wiley‐Liss, Inc.
Modulation of MEK activity during G‐CSF signaling alters proliferative versus differentiative balancing
Authors: Baumann Michael A. , Paul Cassandra C. , Lemley‐Gillespie Susan , Oyster Marlo , Gomez‐Cambronero Julian
Published: August 2002

Previous studies of the granulocyte colony stimulating factor (G‐CSF) receptor have demonstrated that discrete signals direct proliferative and maturation signaling. Receptor deletion/mutant studies have shown that although activation of the ras‐mitogen activated protein (MAP) kinase pathway is necessary for G‐CSF directed proliferation, it is not necessary for maturation induced by this cytokine. We have assessed the effects of selective inhibition or overexpression of MAP kinase kinase (MEK) in a cell line model of G‐CSF‐induced neutrophil progenitor growth. Using the human G‐CSF responsive MPD cell line, we specifically inhibited MEK using PD 98059 and also transfected MPD cells with a constitutively active MEK construct. We then exposed the cells to G‐CSF and assessed the effects of MEK inhibition and forced expression on proliferation and differentiation. Inhibition of MEK followed by G‐CSF stimulation consistently resulted in an early 2.5‐fold increase in morphologically differentiated neutrophils expressing CD11b and CD16 and containing lactoferrin over that produced by G‐CSF alone. MEK inhibition alone had little effect on the differentiation stage of these cells, although proliferation was impaired. Forced expression of activated MEK resulted in a three‐ to five‐fold decrease in differentiated, lactoferrin containing neutrophilic cells resultant from G‐CSF induction, and a commensurate increase in cell proliferation. These observations suggest that modulation of MAPK activation may be a control point for altering the balance between proliferation and differentiation in response to G‐CSF. Physiologically, this control is likely exerted by costimulatory cytokines. Am. J. Hematol. 68:99–105, 2001. Published 2001 Wiley‐Liss, Inc.
Treatment of hepatitis C related thrombocytopenia with interferon alpha
Authors: Rajan Sandeep , Liebman Howard A.
Published: August 2002

Thrombocytopenia is a common extrahepatic manifestation of hepatitis C (HCV) infection. Treatment with steroids may be effective, but can exacerbate the viral infection. Interferon alpha (INF) has documented efficacy in the treatment of HCV, but its use in the treatment of HCV thrombocytopenia is controversial. We treated eight patients with HCV‐related thrombocytopenia, who had platelet counts of fewer than 50 × 109/l (range: 16 to 46 × 109/L) with INF 3 MU SQ three times a week. Planned duration of treatment was 24 weeks. Five patients had no evidence of hepatic cirrhosis, three had cirrhosis, and two had palpable splenomegaly. Only three patients tolerated the full course of treatment, and all three had improvement in their platelet counts to greater than 50 × 109/l. Two other patients had improvement in platelet counts to more than 50 × 109/l with shorter duration of treatment (six and 16 weeks, respectively). The mean increase in platelet count in the five responders was 44 × 109/lL (range: 28 to 90 × 109/l). The average peak platelet count in the responders was 81 × 109/l (range: 62 to 136 × 109/l). Duration of response ranged from four to 18+ months, with the shortest responses observed in the two patients treated with a shorter course of INF. Response was independent of the presence of cirrhosis. Responding patients had improvement in hepatic transaminases, reduction in cryoglobulin and anticardiolipin antibodies, and HCV plasma RNA when tested. Relapse was associated with an increase in these laboratory markers of HCV infection. We conclude that INF can be an effective treatment in patients with HCV‐related thrombocytopenia. Am. J. Hematol. 68:202–209, 2001. © 2001 Wiley‐Liss, Inc.
Fat distribution in venezuelan children and adolescents estimated by the conicity index and waist/hip ratio
Authors: Pérez Betty , Landaeta‐Jiménez Maritza , Vásquez Maura
Published: August 2002

This study compares the conicity index (C) with the waist/hip ratio (WHR) in a cross‐sectional sample of Venezuelan children (n = 784 boys and n = 735 girls), 3 to 16 years of age. Distributions of C and WHR were compared in Box‐plot diagrams. Regression analysis was used to examine the relationship between indices by age and sex. Conicity captured more outliers in the distribution than WHR and explained 33% to 62% of the variability in WHR in three age groups. The influence was stronger in females during adolescence (R2 = 0.60, P < 0.05). According to the principle of C, most children presented a bi‐conical shape, which was more pronounced in boys than girls and which was indicative of a more central distribution of adiposity. These results are related, in part, to age and sex differences in body composition and to the earlier onset of the adolescent growth spurt in Venezuelan children. Am. J. Hum. Biol. 14:15–20, 2002. © 2002 Wiley‐Liss, Inc.
Estimation of height in elderly Japanese using region‐specific knee height equations
Authors: Knous Barbara Lohse , Arisawa Masako
Published: August 2002

Two knee height equations to predict standing height of Japanese elderly were cross‐validated with Joetsu City elders. One equation was derived with Hawaiian residents of Japanese ancestry and the other with elders from the Kumamoto Prefecture in Japan. Subjects included 40 men and 39 women free‐dwelling, healthy elders with mean ages of 68.0 ± 2.2 years and 68.0 ± 2.7 years, respectively. Heights of the subjects were representative of Japanese elderly. Experienced nurses, trained to measure knee height, also measured standing height with an automatic stadiometer. A pilot study refined measurement skills. Differences between actual and predicted heights for both equations were significant. Multiple linear regression was used to derive knee height equations specific for elderly males and females living in Joetsu City: women, 63.06 + (2.38 × knee height in cm) −(0.34 × age in years); men, 71.16 + (2.61 × knee height in cm) ‐ (0.56 × age in years). Geographic‐specific knee height equations for Japanese elderly and cross‐validation with other locations are suggested to facilitate the accurate use of knee height in nutritional assessment of Japanese elders. Am. J. Hum. Biol. 14:300–307, 2002. © 2002 Wiley‐Liss, Inc.
Demographic consequences of unpredictability in fertility outcomes
Authors: Leslie Paul , Winterhalder Bruce
Published: August 2002

Child survival is probabilistic, but the unpredictability in family formation and completed family size has been neglected in the fertility literature. In many societies, ending the family cycle with too few or too many surviving offspring entails serious social, economic, or fitness consequences. A model of risk‐ (or variance‐) sensitive adaptive behavior that addresses long‐term fertility outcomes is presented. The model shows that under conditions likely to be common, optimal, risk‐sensitive reproductive strategies deviate systematically from the completed family size that would be expected if reproductive outcome is were predictable. This is termed the “variance compensation hypothesis.” Variance compensation may be either positive or negative, resulting in augmented or diminished fertility. Which outcome obtained is a function of identifiable social, economic, and environmental factors. Through its effect on fertility behavior, variance compensation has a direct bearing on birth spacing and completed fertility, and thereby on problems in demography and human population biology ranging from demographic transitions to maternal depletion and child health. Risk‐sensitive models will be a necessary component of a general theory of fertility. Am. J. Hum. Biol. 14:168–183, 2002. © 2002 Wiley‐Liss, Inc.
Specific immune response to occupational antigens in asymptomatic egg processing workers
Authors: Zanoni Giovanna , Martini Silvia , Zedde Antonio , Pagani Mauro , Guarnieri Annalisa , Tridente Giuseppe , Romeo Luciano
Published: August 2002

Background

Hen's egg proteins are known sensitizers and may cause occupational respiratory diseases in exposed workers. The study was conducted in order to ascertain the prevalence of sensitization to work‐related antigens in asymptomatic egg processing factory workers.

Methods

Clinical history, respiratory function, atopy and the presence of specific antibodies to environmental and occupational antigens were evaluated in 77 workers. A total of 116 unexposed and non‐professionally exposed controls were also studied. The antigen concentration of the factory environment was measured.

Results

Specific IgE and precipitin positivity to egg components was more frequently present in workers than in the two control groups. The egg white protein concentration was higher in the egg breaking area.

Conclusions

The avian proteins inhaled induced immune responses to occupational antigens in asymptomatic, professionally exposed subjects. Measures to decrease environmental antigen concentrations and thorough clinical monitoring of sensitized workers are advocated. Am. J. Ind. Med. 41:490–497, 2002. © 2002 Wiley‐Liss, Inc.
Association between a polymorphism in the pseudoautosomal X‐linked gene SYBL1 and bipolar affective disorder
Authors: Müller Daniel J. , Schulze Thomas G. , Jahnes Esther , Cichon Sven , Krauss Harald , Kesper Kristina , Held Tilo , Maier Wolfgang , Propping Peter , Nöthen Markus M. , Rietschel Marcella
Published: August 2002

In the past decade, several chromosomal regions have been analyzed for linkage with bipolar affective disorder (BPAD). There have been conflicting results regarding the involvement of X‐chromosomal regions in harboring susceptibility genes for BPAD. Recently, a new candidate gene (SYBL1) for BPAD has been described on Xq28. SYBL1, which maps to the Xq pseudoautosomal region (PAR), encodes a member of the synaptobrevin family of proteins involved in synaptic vesicle docking, exocytosis, and membrane transport. A subsequent case‐control association study, including 110 US‐American patients with BPAD and 119 unrelated controls, investigated a potential etiological role of a novel polymorphism (G→C transversion) in a regulatory region of the SYBL1 gene. In this analysis, the C allele showed a statistical trend to be more frequent in males with BPAD than in respective controls (P = 0.06). This finding prompted us to verify whether a similar effect was also present in a larger German sample of 164 unrelated patients with BPAD (148 patients with BP I disorder, 16 patients with BP II disorder) and 267 controls. We observed a significantly increased frequency of genotypes homozygous for the C allele in females with BPAD in comparison with controls (P = 0.017). Thus, our data strengthen the role of the SYBL1 gene as a candidate gene for BPAD. © 2001 Wiley‐Liss, Inc.
Craniosynostosis, ectopia lentis, and congenital heart defects: Further delineation of an autosomal dominant syndrome with incomplete penetrance
Authors: Quercia Nada L. , Teebi Ahmad S.
Published: August 2002

The association of craniosynostosis with ectopia lentis is extremely rare. This was recently reported in monozygotic twin sisters, supporting a genetic etiology for this syndromic association. We report on female first cousins once removed who were born with unilateral coronal synostosis. One cousin also had peripheral pulmonic branch stenosis at birth and was later found to have ectopia lentis and severe myopia. The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence is normal. The inheritance is likely autosomal dominant with variable expression and incomplete penetrance and further defines this syndrome to include congenital heart defects. These findings will have important implications for genetic counseling. © 2001 Wiley‐Liss, Inc.
Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation
Authors: Velinov Milen , Gu Hong , Yeboa Keame , Warburton Dorothy , Tubo Taknida , Dhuper Sarita , Lanter Stuart , Delprino Doreen , Kupchik Gabriel , Jenkins Edmund C.
Published: August 2002

We present a female infant with mild dysmorphic features and congenital heart defect: hypoplastic left heart with aortic atresia and hypoplastic aortic arch, ventricular septal defect, and a nonrestrictive atrial communication. Chromosome analysis showed an unbalanced translocation that contained additional material from 4q translocated onto 21q. This resulted in partial trisomy 4 and monosomy for the 21q telomeric region. The derivative chromosome was characterized using G‐banding, M‐FISH, and whole chromosome painting. The karyotype was described as 46,XX,der(21)t(4;21)(q25;q22.3).ish(wcp4+;wcp21+). Additional analyses with FISH probes specific for 21q 22.3, 21q22.2, 21q21.1, and 21q11.2 did not indicate any chromosome 21 duplication within the derivative chromosome 21. Monosomy for the telomeric portion of 21q was demonstrated using a tel 21q probe (Oncor). The patient underwent stage 1 Norwood procedure to manage her heart defect. Poor feeding and failure to thrive complicated the postsurgical period. The child subsequently underwent funduplication and feeding tube placement, and at 4.5 months of age presented with microcephaly and developmental delay. Hypoplastic left heart was previously reported with increased frequency in relatively common numeric chromosomal aberrations, such as monosomy X, trisomies 21, 18, and 13, and in various structural chromosomal defects. Our report presents new evidence for the co‐occurrence of hypoplastic left heart with a duplicated portion of chromosome 4 distal to 4q25. In addition, monosomy for the telomeric region of chromosome 21 may have implications in the phenotype. © 2001 Wiley‐Liss, Inc.
Detection of Y‐specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method
Authors: Nishi Mirian Y. , Domenice Sorahia , Medeiros Maria Aparecida , Mendonca Berenice B. , Billerbeck Ana Elisa C.
Published: August 2002

The incidence of Y chromosome sequences in patients with Turner syndrome has been evaluated in several studies, and its frequency varied from 0% to 61%, depending on the molecular methodology used. The aim of our study was to screen for Y chromosome sequences in 122 patients with Turner syndrome without cytogenetic evidence of this chromosome. DNA of 100 normal women was also screened and it was used as a negative control. To identify cryptic Y mosaicism, eight regions of Y chromosome were amplified by PCR. In order to increase the sensitivity of Y sequence detection, a nested PCR of the SRY and TSPY genes was also performed. All patients had several stigmata of Turner syndrome and none of them presented with signs of virilization. The most frequent karyotype was 45,X (54.1%), followed by mosaicism involving structural aberration of the X chromosome. There were 12 patients who carried a marker or ring chromosome. First‐round PCR identified Y chromosome sequences in only four patients (3%), and all of them had a chromosome mosaicism with at least one cell lineage with a marker chromosome. After nested PCR, 25% of the patients and 14% of the normal women were positive for the presence of Y sequences. Contamination with extraneous genomic DNA was ruled out by microsatellite studies, but we cannot eliminate the possibility of contamination with PCR products, despite careful handling. We conclude that nested PCR overestimated the frequency of Y sequences in patients with Turner syndrome and should be avoided to prevent false positive results, which lead to unnecessary surgical treatment of these patients. © 2001 Wiley‐Liss, Inc.
Mutational analysis of the luteinizing hormone receptor gene in two individuals with Leydig cell tumors
Authors: Canto Patricia , Söderlund Daniela , Ramón Guillermo , Nishimura Elisa , Méndez Juan Pablo
Published: August 2002

Inactivating mutations of the luteinizing hormone receptor (LHR) gene in males induce Leydig cell agenesis or hypoplasia, while activating mutations cause testotoxicosis. Recently, it was demonstrated that a somatic heterozygous activating mutation of the LHR gene (Asp578His), limited to the tumor, was the cause of Leydig cell adenomas in three unrelated patients. We describe the molecular study of two unrelated boys with gonadotropin‐independent hypersecretion of testosterone due to Leydig cell adenomas. Genomic DNA was extracted from the tumor, the adjacent normal testis tissue, and blood leukocytes. Both individuals exhibited an heterozygous missense mutation, limited only to the tumor, consisting of a guanine (G) to cytosine (C) substitution at codon 578 (GAT to CAT), turning aspartic acid into histidine. The presence of the same mutation in different ethnic groups demonstrates the existence of a mutational hot spot in the LHR gene. Indeed, this mutation occurs at the conserved aspartic acid residue at amino acid 578, where a substitution by glycine is the most common mutation observed in testotoxicosis and where a substitution by tyrosine has been linked to a more severe clinical phenotype where diffuse Leydig cell hyperplasia is found. Our results confirm the fact that somatic activating mutations of gonadotropin receptors are involved in gonadal tumorigenesis. © 2002 Wiley‐Liss, Inc.
Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: A distinct syndrome?
Authors: Parisi Melissa A. , Kletter Gad B. , Grady Richard , Mitchell Michael , Ramsdell Linda A. , Pagon Roberta A.
Published: August 2002

We report three boys, including two brothers, with micropenis and poor phallic growth in response to both exogenous human chorionic gonadotropin (HCG) and testosterone therapy in the newborn period. They exhibited low neonatal testosterone levels that failed to respond to HCG stimulation. These boys displayed a unique gonadotropin profile with reduced luteinizing hormone levels and elevated follicle‐stimulating hormone levels. They had small, cryptorchid testes with subsequent testicular regression and atrophy. Moreover, all three boys have developed microcephaly and mild learning delays. We review the hormonal profiles and phenotypes of known causes of micropenis, and compare them to the features of our three patients. Although individuals with similar features may have been described in past series of males with micropenis, the data presented previously were insufficient for classification; thus, we propose that our patients may represent a distinct, not previously recognized, syndrome with either X‐linked recessive inheritance or autosomal recessive inheritance with male sex limitation. © 2002 Wiley‐Liss, Inc.
HLA class I distribution in Japanese patients with schizophrenia
Authors: Matsumoto Shunji , Sasaki Tsukasa , Imamura Akira , Matsuo Katsuhisa , Kayashima Tomohiko , Hashida Aoi , Ono Shinji , Tsujita Takahiro , Matsumoto Sumitaka , Nakane Yishibumi , Tokunaga Katsushi , Okazaki Yuji
Published: August 2002

Several Caucasian studies and one Japanese study have observed associations between human leukocyte antigen (HLA) class I specificities, including A24 (9) and A26 (10) and schizophrenia. Most of those studies were conducted in 1970s and early 1980s, when the typing technique of HLA was not adequately reliable. Also, an operational diagnostic system was not employed in many of the studies. The present study investigated frequencies of HLA‐A specificities in schizophrenia patients (ICD‐10 and DSM‐III‐R, n = 98) and sex‐matched healthy controls (n = 392) from population in the southwestern part of Japan. HLA‐B and ‐C specificities were studied in addition. Frequencies of subjects possessing A24 and A26 were not different between the patients and controls (54% and 24% in the patients and 62% and 24% in the controls, respectively). No significant difference was found in frequencies of other class I (A, B, and C) specificities between the patients and the controls. Thus, the present study provided no evidence for an association between the HLA class I specificities, including A24, A26, and others, and schizophrenia in the Japanese population. © 2001 Wiley‐Liss, Inc.
Everything you wanted to know about cercopithecoids and then some
Authors: Swedell Larissa , Sargis Eric J.
Published: August 2002

Review of Old World Monkeys edited by Paul F. Whitehead and Clifford J. Jolly. Cambridge, Cambridge University Press, 2000, xii + 528 p, 79 fig., 40 tab., $115.00.
Testing the reliability of noninvasive genetic sampling by comparing analyses of blood and fecal samples in Barbary macaques (Macaca sylvanus)
Authors: Lathuillière M. , Ménard N. , Gautier‐Hion A. , Crouau‐Roy B.
Published: August 2002

Genetic studies of wild animal populations are often hindered by difficulties in obtaining blood samples. Recent advances in molecular biology have allowed the use of noninvasive samples as sources of DNA (e.g., hair or feces), but such samples may provide low‐quality DNA and prevent the determination of true genotypes in subsequent DNA analysis. We present a preliminary study aimed at assessing the reliability of using fecal samples for genotyping in Barbary macaques (Macaca sylvanus). The test was performed on samples of blood and feces from 11 captive animals, using three dinucleotide microsatellites. The CTAB DNA extraction method was found to be the most relevant for Barbary macaque feces, yielding successful amplification at all loci for 70% of PCRs. All the fecal samples tested gave correct genotypes at least once for each locus when referenced against blood‐derived genotypes. An average of 18.3% of PCRs displayed spurious genotypes (false homozygous or false allele). The minimum theoretical probability required to obtain a 100% accurate genotype is 0.74, based on the criterion that a correct genotype is assessed only if it was observed at least twice. The observed probability of obtaining a correct genotype from three PCRs, based on our genotyping results, was greater (0.81 on average) than the minimum threshold. In conclusion, our comparison of blood and fecal samples showed that fecal sampling is a reliable tool for the further study of wild Barbary macaque populations. Am. J. Primatol. 55:151–158, 2001. © 2001 Wiley‐Liss, Inc.
Comparative cognitive science and the Japanese influence in primatology
Authors: Beran Michael J. , Rumbaugh Duane M.
Published: August 2002

Review of Primate Origins of Human Cognition and Behavior by Tetsuro Matsuzawa. Tokyo, Springer‐Verlag, 2001, xxi + 587 pp, 248 fig., 4 in color, $119.00.
An accessible guide to the primates
Authors: Reeder Deeann M.
Published: August 2002

Review of Walker’s Primates of the World by Ronald M. Nowak. Introduction by Russell A. Mittermeier, Anthony B. Rylands, and William Konstant. Baltimore, Johns Hopkins University Press, 1999, 232 pp, 180 fig., 13 tab., $19.95.
Chromosome painting reveals that galagos have highly derived karyotypes†
Authors: Stanyon Roscoe , Koehler U. , Consigliere S.
Published: August 2002

The differences in chromosome number between Otolemur crassicaudatus (2n = 62) and Galago moholi (2n = 38) are dramatic. However, the total number of signals given by hybridizing human chromosome paints to galago metaphases is similar: 42 in O. crassicaudatus and 38 G. moholi. Many human chromosome homologs are found fragmented in each species, and numerous translocations have resulted in chromosomal syntenies or hybridization associations which differ from those found in humans. Only 7 human autosomes showed conserved synteny in O. crassicaudatus, and 9 in G. moholi. Both galago species have numerous associations or syntenies not found in humans: O. crassicaudatus has 11, and G. moholi has 21. The phylogenetic line leading to the last common ancestor of the two galago species accumulated 6 synapomorphic fissions and 5 synapomorphic fusions. Since the divergence of the two galago species, 10 Robertsonian translocations have further transformed the G. moholi karyotype, and 2 fissions have been incorporated into the O. crassicaudatus karyotype. Comparison with other primates, tree shrews, and other mammals shows that both galagos have karyotypes which are a mixture of derived and conserved chromosomes, and neither has a karyotype close to that of the proposed ancestor of all primates. Am J Phys Anthropol 117:319–326, 2002. Published 2002 Wiley‐Liss, Inc.
Double‐energy X‐ray absorptiometry in the diagnosis of osteopenia in ancient skeletal remains
Authors: González‐Reimers E. , Velasco‐Vázquez J. , Arnay‐De‐La‐Rosa M. , Santolaria‐Fernández F. , Gómez‐Rodríguez M.A. , Machado‐Calvo M.
Published: August 2002

Bone mineral density (BMD) assessed by double‐energy X‐ray absorptiometry (DEXA) accurately estimates the bone mass in living individuals, and is thus the method usually employed in the diagnosis and follow‐up of osteopenia. It is preferred, in clinical settings, to the more invasive and destructive histomorphometrical assessment of trabecular bone mass in undecalcified bone samples. This study was performed in order to examine the value of DEXA‐assessed BMD at the proximal end of the right tibia, either alone or in combination with the cortico‐medullary index at the midshaft point of the right tibia (CMI), in the diagnosis of osteopenia in a prehistoric sample composed of 95 pre‐Hispanic individuals from Gran Canaria. Age at death could be estimated in 34 cases. Diagnosis of osteopenia was performed by histomorphometrical assessment of trabecular bone mass (TBM) in an undecalcified bone section of a small portion of the proximal epiphysis of the right tibia. A high prevalence of osteopenia was found among the population of Gran Canaria. Both TBM and BMD were significantly lower in the older individuals than in younger ones, and BMD was also significantly lower in female individuals. BMD was moderately correlated with TBM (r = +0.51); the correlation was higher if CMI was included (multiple r = +0.615). BMD values lower than 0.7 g/cm2showed a high specificity (>93%) at excluding normal TBM values. These methods were prospectively applied in a further sample of 21 right tibiae from Gran Canaria, Tenerife, and El Hierro. The results were similar to those obtained in the larger sample. Thus, DEXA‐assessed BMD combined with CMI (noninvasive procedures) may be useful in detecting osteopenia in ancient populations. Am J Phys Anthropol 118:134–145, 2002. © 2002 Wiley‐Liss, Inc.