bluuebunny/crossref_metadata_2025_split huggingface dataset:
Obstructive sleep apnea in Costello syndrome
Authors: Marca Giacomo Della , Vasta Isabella , Scarano Emanuele , Rigante Mario , De Feo Emma , Mariotti Paolo , Rubino Marco , Vollono Catello , Mennuni Gioacchino Francesco , Tonali Pietro , Zampino Giuseppe 
Published: January 2006

AbstractCostello syndrome (CS) was initially described by Costello in 1971; it is caused by a germline mutation in HRAS proto‐oncogene. The aim of the present study was to evaluate the respiratory activity during sleep in a group of subjects with CS. We studied 10 consecutive patients, 4 males and 6 females, aged 3–29 years, affected by CS. All patients underwent clinical, neurological, otholaryngologic and radiologic evaluation, and a full‐night polysomnography in the sleep laboratory. Polysomnography showed that seven patients presented a relevant number of respiratory events of obstructive type during sleep. The apnea‐hypopnea index (AHI) ranged from 0 to 19.2 events per hour (mean index = 7.5 ± 6.9 events/hr). In one patient AHI was not evaluable because of tracheostomy. Apnea induced mild or moderate hemoglobin desaturations (mean of lowest SpO2 values = 85.4 ± 5.5%). Only sporadic respiratory pauses of central type were observed (mean number of central apnea per study: 7.2 ± 6.8 events/hr). Sleep structure was fragmented, with a high number of awakenings (mean number of awakenings was 13.2 ± 8.1; of these, 4.8 ± 2.5 lasted longer than 2 min). In all patients, otolaryngologic and radiologic observations revealed one or more sites of narrowing in the upper airways. Our results suggest that Costello patients have a high prevalence of obstructive sleep‐related respiratory disorders, which need to be assessed by means of polysomnography. © 2006 Wiley‐Liss, Inc.
BAC array CGH reveals genomic aberrations in idiopathic mental retardation
Authors: Miyake Noriko , Shimokawa Osamu , Harada Naoki , Sosonkina Nadia , Okubo Aiko , Kawara Hiroki , Okamoto Nobuhiko , Kurosawa Kenji , Kawame Hiroshi , Iwakoshi Mie , Kosho Tomoki , Fukushima Yoshimitsu , Makita Yoshio , Yokoyama Yuji , Yamagata Takanori , Kato Mitsuhiro , Hiraki Yoko , Nomura Masayo , Yoshiura Ko‐ichiro , Kishino Tatsuya , Ohta Tohru , Mizuguchi Takeshi , Niikawa Norio , Matsumoto Naomichi 
Published: January 2006

AbstractArray using 2,173 BAC clones covering the whole human genome has been constructed. All clones spotted were confirmed to show a unique signal at the predicted chromosomal location by FISH analysis in our laboratory. A total of 30 individuals with idiopathic mental retardation (MR) were analyzed by comparative genomic hybridization using this array. Three deletions, one duplication, and one unbalanced translocation could be detected in five patients, which are likely to contribute to MR. The constructed array was shown to be an efficient tool for the detection of pathogenic genomic rearrangements in MR patients as well as copy number polymorphisms (CPNs). © 2006 Wiley‐Liss, Inc.
Autism spectrum disorders: Molecular genetic advances
Authors: Bacchelli Elena , Maestrini Elena 
Published: January 2006

AbstractDespite the strong genetic basis of autism spectrum disorders (ASD), research efforts in the last decade have not been successful in the identification of confirmed susceptibility genes. We review the present status of genetic linkage, candidate gene, and association studies, pointing out the limitations of these approaches and the challenge of dealing with the clinical and genetic complexity of autism. Finally, we outline how recent technological and bioinformatic advances, together with an increasing understanding of the structure of the human genome, have set the stage to perform more comprehensive and well powered studies, possibly leading to a turning point in the understanding of the genetic basis of this devastating disorder. © 2006 Wiley‐Liss, Inc.
Genetic counseling and ethical issues for autism
Authors: McMahon William M. , Baty Bonnie Jeanne , Botkin Jeffrey 
Published: January 2006

AbstractExciting progress is being made in the journey toward discovery of genes conferring risk for autism and autism spectrum disorders. Currently, genetic counseling for idiopathic autism rests on clinical diagnosis and empiric risk estimates. While no genetic test for risk of autism currently exists, it is possible that such a test may emerge in the near future, and that commercial availability may precede adequate understanding of test characteristics. The complexity of multifactorial conditions like autism raises a host of ethical and counseling challenges. For families to benefit from new genetic knowledge about autism, it will be important for their practitioners to be knowledgeable about the issues, utilize appropriate educational interventions and emerging management options, and help families across the cultural spectrum cope with these challenges. © 2006 Wiley‐Liss, Inc.
CPR, on members' behalf, responds to European commission mediation queries
Authors: Bleemer Russ 
Published: January 2006

AbstractOn behalf of seven members, the CPR Institute files a response to nine questions posed by a member of the European Commission's parliament on whether the EC should push for more commercial mediation, and how it should do so if it decides to proceed with a proposed directive. Also, the fourth volume in CPR's new Master Guides series is set for release
Evaluating the information quality of Web sites: A methodology based on fuzzy computing with words
Authors: Herrera‐Viedma Enrique , Pasi Gabriella , Lopez‐Herrera Antonio G. , Porcel Carlos 
Published: January 2006

AbstractAn evaluation methodology based on fuzzy computing with words aimed at measuring the information quality of Web sites containing documents is presented. This methodology is qualitative and user oriented because it generates linguistic recommendations on the information quality of the content‐based Web sites based on users' perceptions. It is composed of two main components, an evaluation scheme to analyze the information quality of Web sites and a measurement method to generate the linguistic recommendations. The evaluation scheme is based on both technical criteria related to the Web site structure and criteria related to the content of information on the Web sites. It is user driven because the chosen criteria are easily understandable by the users, in such a way that Web visitors can assess them by means of linguistic evaluation judgments. The measurement method is user centered because it generates linguistic recommendations of the Web sites based on the visitors' linguistic evaluation judgments. To combine the linguistic evaluation judgments we introduce two new majority guided linguistic aggregation operators, the Majority guided Linguistic Induced Ordered Weighted Averaging (MLIOWA) and weighted MLIOWA operators, which generate the linguistic recommendations according to the majority of the evaluation judgments provided by different visitors. The use of this methodology could improve tasks such as information filtering and evaluation on the World Wide Web.
Characterization of bacterial growth and the influence of antibiotics by means of UV resonance Raman spectroscopy
Authors: Neugebauer U. , Schmid U. , Baumann K. , Holzgrabe U. , Ziebuhr W. , Kozitskaya S. , Kiefer W. , Schmitt M. , Popp J. 
Published: January 2006

AbstractIn this work we monitor the bacterial growth of a Bacillus pumilus batch culture by means of UV resonance Raman spectroscopy. Excitation with a wavelength of 244 nm especially enhances the Raman scattering of the aromatic amino acids and the nucleic acid bases and therefore is a good method to track the metabolic changes that occur during bacterial growth. Furthermore, a drug from the fluoroquinolone group is added to the bacterial suspension at the beginning of the exponential growth phase. With the help of chemometrical methods such as hierarchical cluster analysis (HCA) and principal component analysis (PCA) it is possible to visualize the small changes that occur in the UV resonance Raman spectra due to the interaction of the drug with its biological targets DNA and the enzyme gyrase within the bacterial cell. © 2006 Wiley Periodicals, Inc. Biopolymers 82: 306–311, 2006This article was originally published online as an accepted preprint. The “Published Online” date corresponds to the preprint version. You can request a copy of the preprint by emailing the Biopolymers editorial office at biopolymers@wiley.com
Surface‐enhanced Raman scattering study of the interaction of red dye alizarin with ovalbumin
Authors: Cañamares M. V. , Sevilla P. , Sanchez‐Cortes S. , Garcia‐Ramos J. V. 
Published: January 2006

AbstractSurface‐enhanced Raman spectroscopy and UV–vis absorption spectroscopy were employed to study the interaction between the red dye alizarin and ovalbumin (OA), to check the effect of binding media usually employed when applying this pigment in painting practices based on egg tempera. The protein/alizarin interaction is rather weak and takes place through the alizarin neutral form, which interacts with exposed hydrophobic moieties of OA. This effect is of great interest from an artistic point of view because the dye color can be modified. Furthermore, the interaction with alizarin could induce a change in the protein structure, leading to a denaturation and subsequent aggregation. © 2006 Wiley Periodicals, Inc. Biopolymers 82: 405–409, 2006This article was originally published online as an accepted preprint. The “Published Online” date corresponds to the preprint version. You can request a copy of the preprint by emailing the Biopolymers editorial office at biopolymers@wiley.com
Bis(calixcrown)tetrathiafulvalene Receptors
Authors: Blesa María‐Jesús , Zhao Bang‐Tun , Allain Magali , Le Derf Franck , Sallé Marc 
Published: January 2006

AbstractA new class of electroactive receptors has been synthesized, built by covalent association of five subunits: two calixarene platforms for spatial organization, two polyether 3D cavities for cation binding, and one electroactive TTF unit to probe the complexation event. Sodium complexation induces rigidification of the molecular assembly, as shown by 1H NMR titration and single‐crystal X‐ray crystallographic studies on free receptor 14 and a corresponding complex with two bound sodium atoms per receptor (15‐(NaPF6)2). The calixarene units in these receptors change from a pinched cone conformation in the free ligand to a symmetrical cone in the complex. Cyclovoltammetric studies validated the electrochemical recognition concept of these five‐member assemblies.
New Cyanine–Oligonucleotide Conjugates: Relationships between Chemical Structures and Properties
Authors: Lartia Rémy , Asseline Ulysse 
Published: January 2006

AbstractBecause the influence of the chemical structure of monomethine cyanine–oligo‐2′‐deoxyribonucleotide (ODN) conjugates on their binding and fluorescence properties has remained largely undetermined, we synthesized and studied a wide range of conjugates with various structural patterns. Different cyanine dyes such as thiocyanine, quinocyanine, and thiazole orange isomers were obtained. In the case of unsymmetrical cyanines, the linker was attached to either the quinoline or the benzothiazole nucleus. The influence of the ODN counterpart was evaluated by linking the cyanines to the 5′‐end or to an internucleotidic phosphate. In the first case, the influence of neighboring nucleic bases was studied, whereas in the second, the stereochemical configuration at the phosphorus atom bearing the cyanine was investigated. We report here on relationships between the structures of the dyes and conjugates and some of their properties, such as the stability and fluorescence changes observed on their hybridization with the target sequence. This study provides useful information towards the design of ODN–cyanine conjugates.
Self‐organized and highly ordered domain structures within swarms of Myxococcus xanthus
Authors: Pelling Andrew E. , Li Yinuo , Cross Sarah E. , Castaneda Schryl , Shi Wenyuan , Gimzewski James K. 
Published: January 2006

AbstractCoordinated group movement (swarming) is a key aspect of Myxococcus xanthus' social behavior. Here we report observation of domain structures formed by multiple cells within large three‐dimensional swarming groups grown on amorphous glass substrates, using the atomic force microscope (AFM). Novel analyses revealed that ˜90% of the wild type swarms displayed some form of preferential cell alignment. In contrast, cells with mutations in the social and adventurous motility systems displayed a distinct lack of cell alignment. Video microscopy observations of domain features of in vivo swarming M. xanthus cells were also consistent with the AFM data. The results presented here reveal that unique domain formation within swarms of wild type cells is a biologically driven process requiring the social and adventurous motility systems and is not a statistical phenomenon or thermodynamic process arising from liquid crystal behavior. Cell Motil. Cytoskeleton 63, 2006. © 2006 Wiley‐Liss, Inc.
A critical role for the type V myosin, Myo52, in septum deposition and cell fission during cytokinesis in Schizosaccharomyces pombe
Authors: Mulvihill Daniel P. , Edwards Suzanne R. , Hyams Jeremy S. 
Published: January 2006

AbstractCytokinesis in fission yeast involves the coordination of septum deposition with the contraction of a cytokinetic actomyosin ring. We have examined the role of the type V myosin Myo52 in the coupling of these two events by the construction of a series of deletion mutants of the Myo52 tail and a further mutant within the ATP binding domain of the head. Each mutant protein was ectopically expressed in fission yeast cells. Each truncation was assayed for the ability to localize to the cell poles and septum (the normal cellular locations of Myo52) and to rescue the morphology defects and temperature sensitivity of a myo52Δ strain. A region within the Myo52 tail (amino acids 1320–1503), with a high degree of similarity to the vesicle‐binding domain of the budding yeast type V myosin Myo2p, was essential for Myo52's role in the maintenance of growth polarity and cell division. A separate region (amino acids 1180–1320) was required for Myo52 foci to move throughout the cytoplasm; however, constructs lacking this region, but which retained the ability to dimerize still associated with actin at sites of cell growth. Not all of the Myo52 truncations which localized rescued the morphological defects of myo52Δ, demonstrating that loss of function was not simply brought about by an inability of mutant proteins to target the correct cellular location. By contrast, Myo52 motor activity was required for both localization and cellular function. myo52Δ cells were unable to efficiently localize the β‐1,3‐glucan synthase, Bgs1, either at the cell poles or at the division septum, regions of cell wall deposition. Bgs1 and Myo52 localized to vesicle‐like dots at the poles in interphase and these moved together to the septum at division. These data have led to the formulation of a model in which Myo52 is responsible for the delivery of Bgs1 and associated molecules to polar cell growth regions during interphase. On the commencement of septum formation, Myo52 transports Bgs1 to the cell equator, thus ensuring the accurate deposition of β‐1,3‐glucan at the leading edge of the primary septum. Cell Motil. Cytoskeleton 2006. © 2006 Wiley‐Liss, Inc.
In utero exposure to female hormones and germ cell tumors in children
Authors: Shankar Sadhna , Davies Stella , Giller Roger , Krailo Mark , Davis Mary , Gardner Kathleen , Cai Hui , Robison Leslie , Shu Xiao‐Ou 
Published: January 2006

AbstractBACKGROUNDMaternal exposure to exogenous female hormones during pregnancy has been implicated as a risk factor for malignant germ cell tumors (GCTs) in the offspring in some epidemiologic studies of testicular and ovarian carcinoma in adults.METHODSFrom 1996 to 2002, 278 children younger than 15 years of age with malignant GCTs and 423 healthy controls, frequency‐matched for geographic location, age, and sex were enrolled in a case–control study to investigate whether in utero exposure to female hormones is associated with the risk of malignant GCT in children. Cases were recruited from 84 institutions in the U.S. and controls were enrolled through random digit dialing. Information was obtained through telephone interview with the biological mothers of the subjects and through blinded review of the mothers' medical records.RESULTSNeither self‐reported (odds ratio [OR] = 1.15; 95% confidence interval [CI], 0.63, 2.12) nor medical chart based (OR = 1.14; 95% CI, 0.75, 1.73) maternal exposure to exogenous female hormones was related to malignant GCT risk. Pregnancy‐related conditions that may have altered serum levels of circulating female hormones were also unrelated to the risk of GCT in the offspring.CONCLUSIONThis study failed to provide strong evidence to support the hypothesis that maternal exposure to exogenous female hormones during pregnancy increases the risk of GCT in the offspring. Cancer 2006. © 2006 American Cancer Society.
Are all melanomas the same?
Authors: Lee David A. , Cohen Jason A. , Twaddell William S. , Palacios Gustavo , Gill Melissa , Levit Eyal , Halperin Alan J. , Mones Joan , Busam Klaus J. , Silvers David N. , Celebi Julide Tok 
Published: January 2006

AbstractBACKGROUNDAlthough the majority of melanomas demonstrate high rates of mutations in B‐RAF or N‐RAS that result in constitutive activation of the mitogen‐activated protein kinase‐signaling pathway, emerging data suggest molecular differences among melanoma subtypes. In this study, the authors evaluated the contribution of B‐RAF and N‐RAS mutations to the pathogenesis of Spitzoid melanomas.METHODSIn total, 33 Spitzoid melanomas were analyzed for clinical and pathologic characteristics as well as for hot‐spot mutations in the B‐RAF and N‐RAS genes. In the majority of patients (28 of 33 melanomas), the tumors were confined to the skin with no evidence of metastasis (average follow‐up, 32.5 mos). There were five metastasizing melanomas (5 of 33 tumors) with regional or systemic spread.RESULTSOf 33 Spitzoid melanomas, only 1 showed the V600E mutation in the B‐RAF gene (1 of 33 tumors; 3%). It was noteworthy that none of the metastatic Spitzoid melanomas (0 of 5 tumors; 0%), of which 2 resulted in fatal outcomes, demonstrated mutations in B‐RAF or N‐RAS.CONCLUSIONSIn contrast to the majority of cutaneous melanomas, activating hot‐spot mutations in B‐RAF or N‐RAS were not involved in the pathogenesis of Spitzoid melanoma. These data suggested that Spitzoid melanoma is a distinct form of melanoma with unknown genes and/or signaling pathways involved in its development. Cancer 2006. © 2006 American Cancer Society.
Prognostic factors for osteosarcoma of the extremity treated with neoadjuvant chemotherapy
Authors: Bacci Gaetano , Longhi Alessandra , Versari Michela , Mercuri Mario , Briccoli Antonio , Picci Piero 
Published: January 2006

AbstractBACKGROUNDThe evaluation variables influencing systemic and local recurrence and final outcome are extremely important in defining risk‐adapted treatments for patients with nonmetastatic osteosarcoma of the extremity.METHODSA homogeneous group of 789 patients treated at a single institution between March 1983 and March 1999 with different protocols of neoadjuvant chemotherapy, with a minimum followup of 5 years, were retrospectively evaluated in relation to gender, age, serum levels of alkaline phosphatase, tumor site and size of the pathologic fracture, type of surgery, protocol of chemotherapy, surgical margins, and histologic response to preoperative treatment.RESULTSThe 5‐year event‐free survival (EFS) and overall survival rates were 60.1% and 67.5%, respectively. Upon univariate analysis, EFS was significantly related to the age of patients, serum value of alkaline phosphatase, tumor volume, histologic subtype, type of surgery, surgical margins, histologic response to preoperative treatment, and chemotherapy protocol. Local recurrences (4.8%) were significantly correlated with surgical margins. The 5‐year postrecurrence EFS survival was 17% and was significantly lower for patients who had a local recurrence and metastases than for those with metastases only. Patients who had a recurrence only in the lung had a postrecurrence survival rate significantly better than others, correlated with the number of metastatic nodules and the length of the disease‐free interval.CONCLUSIONSUpon multivariate analysis, age ≤ 14 years, high serum levels of alkaline phosphatase, tumor volume > 200 mL, a two‐drug regimen chemotherapy, inadequate surgical margins, and poor histologic response to treatment maintained independent prognostic values on the outcome of nonmetastatic osteosarcoma of the extremities. These factors must be considered when deciding risk‐adapted treatments for osteosarcoma patients. Cancer 2006. © 2006 American Cancer Society.
A developmental fMRI study of self‐regulatory control
Authors: Marsh Rachel , Zhu Hongtu , Schultz Robert T. , Quackenbush Georgette , Royal Jason , Skudlarski Pawel , Peterson Bradley S. 
Published: January 2006

AbstractWe used functional magnetic resonance imaging (fMRI) to investigate the neural correlates of self‐regulatory control across development in healthy individuals performing the Stroop interference task. Proper performance of the task requires the engagement of self‐regulatory control to inhibit an automatized response (reading) in favor of another, less automatic response (color naming). Functional MRI scans were acquired from a sample of 70 healthy individuals ranging in age from 7 to 57 years. We measured task‐related regional signal changes across the entire cerebrum and conducted correlation analyses to assess the associations of signal activation with age and with behavioral performance. The magnitude of fMRI signal change increased with age in the right inferolateral prefrontal cortex (Brodmann area [BA] 44/45) and right lenticular nucleus. Greater activation of the right inferolateral prefrontal cortex also accompanied better performance. Activity in the right frontostriatal systems increased with age and with better response inhibition, consistent with the known functions of frontostriatal circuits in self‐regulatory control. Age‐related deactivations in the mesial prefrontal cortex (BA 10), subgenual anterior cingulate cortex (BA 24), and posterior cingulate cortex (BA 31) likely represented the greater engagement of adults in self‐monitoring and free associative thought processes during the easier baseline task, consistent with the improved performance on this task in adults compared with children. Although we cannot exclude the possibility that age‐related changes in reading ability or in the strategies used to optimize task performance were responsible for our findings, the correlations of brain activation with performance suggest that changes in frontostriatal activity with age underlie the improvement in self‐regulatory control that characterizes normal human development. Hum Brain Mapp, 2006. © 2006 Wiley‐Liss, Inc.