bluuebunny/crossref_metadata_2025_split huggingface dataset:
Adams–Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: Refining the features of a severe autosomal recessive variant
Authors: McGoey Robin R. , Lacassie Yves 
Published: January 2008

AbstractAdams–Oliver syndrome (AOS) is a well‐known rare syndrome of cutis aplasia in combination with limb defects. Recent reports have been published discussing the clinical variability and apparent genetic heterogeneity seen in some affected individuals and families with particular attention made to the possible existence of an autosomal recessive variant of AOS. We report on sisters as the ninth report of such an autosomal recessive‐variant and review previously published similar sibships for observed comparisons relative to clinical features. Review of these cases is initially suggestive of an increased frequency of both central nervous system involvement as well as epilepsy in the autosomal recessive variant of AOS. Full case reports and a review of neurological involvement in the autosomal recessive AOS cases are presented. © 2008 Wiley‐Liss, Inc.
Phacomatosis cesioflammea with unilateral lipohypoplasia
Authors: Castori Marco , Rinaldi Rosanna , Angelo Corrado , Zambruno Giovanna , Grammatico Paola , Happle Rudolf 
Published: January 2008

AbstractPhacomatosis cesioflammea is characterized by the co‐existence of a large nevus cesius (i.e., aberrant Mongolian spot, or nevus fuscocoeruleus) and an extensive nevus flammeus (i.e., port‐wine stain). This sporadic genetic skin disorder represents a particular type of phacomatosis pigmentovascularis, a group of disorders that may reflect twin spotting. We report on a 28‐year‐old woman with aberrant Mongolian spots, bilateral melanosis bulbi, and systematized nevus flammeus partly intermingled with nevus anemicus. Moreover, pronounced lipohypoplasia of the right buttock and thigh as well as hypoplasia of the right breast are present. This anomaly of fatty tissue has not previously been reported in phacomatosis cesioflammea and further expands the clinical spectrum of this mosaic disorder. The patchy distribution of lipohypoplasia and its spatial relationship with vascular lesions strongly support the hypothesis of a postzygotic recombination event. © 2008 Wiley‐Liss, Inc.
Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature
Authors: van Bever Yolande , van Hest Liselotte , Wolfs Roger , Tibboel Dick , van den Hoonaard Thelma L. , Gischler Saskia J. 
Published: January 2008

AbstractWe describe another patient with the combination of apple peel intestinal atresia, microcephaly, microphthalmia, and anterior eye chamber anomalies. Development so far seems to be normal, although there is major visual impairment due to the corneal clouding. Mutation analysis of the PAX6, FOX1, PITX2, and MYNC genes was normal as was MLPA for these genes. Autosomal recessive inheritance is possible as recurrence in sibs was described, although germ line mosaicism or a microdeletion due to a very small parental translocation cannot be ruled out. © 2008 Wiley‐Liss, Inc.
Three‐dimensional morphometric analysis of craniofacial shape in the unaffected relatives of individuals with nonsyndromic orofacial clefts: A possible marker for genetic susceptibility
Authors: Weinberg Seth M. , Neiswanger Katherine , Richtsmeier Joan T. , Maher Brion S. , Mooney Mark P. , Siegel Michael I. , Marazita Mary L. 
Published: January 2008

AbstractNumerous studies have described altered patterns of craniofacial form in the unaffected relatives of individuals with nonsyndromic clefts. Unfortunately, results from such studies have been highly variable and have failed to provide a reliable method for differentiating “at‐risk” relatives from controls. In the present study, we compared craniofacial shape between a sample of unaffected relatives (33 females; 14 males) from cleft multiplex families and an equal number of age/sex/ethnicity‐matched controls. Sixteenx,y,zfacial landmark coordinates derived from 3D photogrammetry were analyzed via Euclidean Distance Matrix Analysis, while 14 additional linear distances were analyzed viattests. A subset of variables was then entered into a discriminant function analysis (DFA). Compared to controls, female unaffected relatives demonstrated increased upper facial width, midface reduction and lateral displacement of the alar cartilage. DFA correctly classified 70% of female unaffected relatives and 73% of female controls. Male unaffected relatives demonstrated increased upper facial and cranial base width, increased lower facial height and decreased upper facial height compared with controls. DFA correctly classified 86% of male unaffected relatives and 93% of male controls. In both sexes, upper facial width contributed most to group discrimination. Following DFA, unaffected relatives were assigned to risk/liability classes based on the degree of phenotypic divergence from controls. Results indicate that craniofacial shape differences characterizing unaffected relatives are partly sex‐specific and are in broad agreement with previous reports. These findings further suggest that a quantitative assessment of the craniofacial phenotype may allow for the identification of susceptible individuals within nonsyndromic cleft families. © 2008 Wiley‐Liss, Inc.
Clinical and radiologic findings in an adult male with dysosteosclerosis
Authors: Lemire Edmond G. , Wiebe Sheldon 
Published: January 2008

AbstractDysosteosclerosis is a rare autosomal recessive skeletal dysplasia characterized by osteosclerosis and platyspondyly. A case of dysosteosclerosis in a 17‐year‐old male from our institution was first published by Houston et al. 1978. This patient has survived into adulthood and to our knowledge, is the only reported adult with dysosteosclerosis. We will review the clinical and radiographic features in our patient. © 2008 Wiley‐Liss, Inc.
Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome
Authors: Marchisio Paola , Selicorni Angelo , Pignataro Lorenzo , Milani Donatella , Baggi Elena , Lambertini Lara , Dusi Elisa , Villa Laura , Capaccio Pasquale , Cerutti Marta , Esposito Susanna , Principi Nicola 
Published: January 2008

AbstractThe development of children who have syndromes with mental retardation and/or language delay can be worsened by sensorineural or conductive hearing loss (HL). Given the existing scarcity of data, we investigated the prevalence of otitis media with effusion and/or HL in 50 children with Cornelia de Lange syndrome (CdLS) aged 1–18 years, and its impact on the children's performance. The children underwent otological and audiological examinations in order to ascertain the relative frequencies of otitis media with effusion and/or hearing impairment; their demographic and clinical data were obtained by questionnaires and from information in their medical charts. Otitis media with effusion was diagnosed in 94%, and its prevalence was similar in all age groups; HL was detected in 40 children (80%). Conductive HL due to middle ear effusion was the main cause of hearing impairment alone (60%) or in combination with sensorineural deficit (20%). HL had a negative impact on performance regardless of the type. A history of routine audiological and/or otological assessments was reported by a minority of parents. Our findings indicate that otitis media with effusion and/or HL is an important feature of children with CdLS and may negatively affect their performance. Careful follow‐up throughout childhood is necessary to detect and treat any hearing loss in children with CdLS in order to minimize its impact on performance. © 2008 Wiley‐Liss, Inc.
Hematological and plasma biochemical values for captive tufted capuchin monkeys (Cebus apella)
Authors: Wirz Annarita , Truppa Valentina , Riviello M. Cristina 
Published: January 2008

AbstractHematological and blood biochemical parameters are of great importance in medical and veterinary practice. Unfortunately, normal reference range intervals for hematological and serum biochemical values in the tufted capuchin monkey (Cebus apella) have seldom been reported. The study reported here is based on data from blood samples collected from 44 monkeys over an 8‐year period. Male and female data are displayed separately within two age categories: juveniles and adults, and effects for sex and age are examined. Significant differences between males and females are found for erythrocytes, hemoglobin, hematocrit, and α1 globulin. Significant differences between juveniles and adults are found for neutrophils, calcium, aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase, inorganic phosphorus, glucose, total protein, serum iron, and some serum protein parameters and albumin/globulin ratio. These values are compared with values we previously reported, and their importance in care and well‐being of captive tufted capuchin monkeys is discussed. Am. J. Primatol. 70:463–472, 2008. © 2008 Wiley‐Liss, Inc.
Short‐ and long‐term flow forecasting in the Rio Grande watershed (Brazil)
Authors: Tucci Carlos E. M. , Collischonn Walter , Clarke Robin T. , Paz Adriano R. , Allasia Daniel 
Published: January 2008

AbstractAs part of a research project to improve flow forecasts for the operation and planning of Brazilian hydroelectric reservoirs, a large‐scale distributed hydrological model has been used with quantitative precipitation forecasts and an empirical data assimilation procedure. This article summarizes some results obtained for the Rio Grande watershed (145 000 km2), one of the Hydrologic Ensemble Prediction Experiment (HEPEX) test beds. For the short‐term horizon (up to 12 days), results show that this methodology can clearly improve real‐time operation of reservoirs. However, longer‐term flow forecasts (time horizon up to 6 months) still require improvement in forecasts from climate models. Copyright © 2008 Royal Meteorological Society
My biomass, your biomass, our solution
Authors: Wilhelm W.W. 
Published: January 2008

AbstractThe USA is pursuing an array of renewable energy sources to reduce reliance on imported fossil fuels and to reduce greenhouse gas emissions. Biomass energy and biomass ethanol are key components in this pursuit. Vast amounts of biomass feedstock will be needed to produce sufficient ethanol to meet any of the numerous target production goals. The Billion Ton Vision suggests one billion tons of biomass is needed annually to meet the ‘30x30’ goal (to replace 30% of 2004 levels of fossil transportation fuel use with ethanol by the year 2030). Great advances in technology will be required to produce this enormous quantity of biomasssustainably. These advances will not come about through ill–coordinated, competitive efforts. On the contrary, the problem of sustainably meeting the biofuel feedstock demand while continuing to meet traditional demands for agricultural output is so great that we need to focus all our energies on establishing complementary public energy policy based on facts and candid analysis; on crafting cooperative, coordinated energy goals across agencies; and on creating enthusiastic, dedicated teams of researchers and educators to develop and deploy existing and new technologies.© 2008 Society of Chemical Industry and John Wiley & Sons, Ltd
Evaluation of embryo‐fetal development in rats housed in concrete or hwangto cages during pregnancy
Authors: Lee J. C. , Ahn T. H. , Yang Y. S. , Moon C. J. , Kim S. H. , Kim Y. B. , Park S. C. , Kim J. C. 
Published: January 2008

AbstractBACKGROUND: Recently, it was reported that the 4‐week exposure of rats to a concrete building environment under cool temperatures (11.7–12.1°C) had adverse effects on the general health parameters. This study examined the potential effects of concrete and hwangto building environments on pregnant dams and embryo‐fetal development in Sprague‐Dawley rats. METHODS: Groups of 10 mated females were exposed to polycarbonate (control), concrete, or hwangto cages from gestational days (GD) 0 to 20 under cool temperatures (11.9–12.5°C). All the females underwent a caesarean section on GD 20, and their fetuses were examined for any morphological abnormalities. RESULTS: The temperatures in the cages were similar in all groups but the relative humidity in the concrete and hwangto groups were higher than in the control group. The concentration of volatile organic compounds in the hwangto group during the study period was lower than in the control group. In the concrete group, maternal effects manifested as an increase in the incidence of clinical signs, a lower body weight, and a decrease in the thymus and ovary weights. Developmental effects included increased post‐implantation loss and decreased litter size. In contrast, in the hwangto group, there were no exposure‐related adverse effects on the maternal and developmental parameters. CONCLUSIONS: Overall, the exposure of pregnant rats to a concrete building environment under cool temperatures has adverse effects on the clinical signs, body weight, organ weight, and embryo‐fetal development. On the other hand, exposure to a hwangto building environment does not have any adverse effects on pregnant dams or on embryo‐fetal development in rats. Birth Defects Res (Part B), 2008. © 2008 Wiley‐Liss, Inc.
Feedback for improving staff training and performance in behavioral treatment programs
Authors: Arco Lucius 
Published: January 2008

AbstractThis paper reviewed observational studies that examined feedback for changing staff performance in behavioral treatment programs for clients with cognitive, developmental, or psychiatric disorders. The research findings were integrated into the main stages of staff training and management: pretraining, training, and posttraining. Specific recommendations for using feedback are made including defining process and outcome form and content before training, providing on‐the‐job supervisory feedback while staff practice self‐generated outcome feedback until competency is demonstrated, and after training, maintaining self‐generated feedback with emphasis on evaluating staff and client interactions with social validity measures. Copyright © 2008 John Wiley & Sons, Ltd.
Dendrimers destabilize proteins in a generation‐dependent manner involving electrostatic interactions
Authors: Giehm Lise , Christensen Casper , Boas Ulrik , Heegaard Peter M. H. , Otzen Daniel E. 
Published: January 2008

AbstractDendrimers are well‐defined chemical polymers with a characteristic branching pattern that gives rise to attractive features such as antibacterial and antitumor activities as well as drug delivery properties. In addition, dendrimers can solubilize prion protein aggregates at very low concentrations, but their mode of action is unclear. We show that poly(propylene imine) dendrimers based on di‐aminobutane (DAB) and modified with guanidinium surface groups reduce insulin thermostability and solubility considerably at microgram per microliter concentrations, while urea‐modified groups have hardly any effect. Destabilization is markedly generation‐dependent and is most pronounced for generation 3, which is also the most efficient at precipitating insulin. This suggests that proteins can interact with both dendrimer surface and interior. The pH‐dependence reveals that interactions are mainly mediated by electrostatics, confirmed by studies on four other proteins. Ability to precipitate and destabilize are positively correlated, in contrast to conventional small‐molecule denaturants and stabilizers, indicating that surface immobilization of denaturing groups profoundly affects its interactions with proteins. © 2008 Wiley Periodicals, Inc. Biopolymers 89: 522–529, 2008.This 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
Creation of Hierarchical Carbon Nanotube Assemblies through Alternative Packing of Complementary Semi‐Artificial β‐1,3‐Glucan/Carbon Nanotube Composites
Authors: Numata Munenori , Sugikawa Kouta , Kaneko Kenji , Shinkai Seiji 
Published: January 2008

AbstractMuch attention has been focused on exploiting novel strategies for the creation of hierarchical polymer assemblies by the control of the assembling number or the relative location among neighboring polymers. We here propose a novel strategy toward the creation of “hierarchical” single‐walled carbon nanotube (SWNT) architectures by utilizing SWNT composites with cationic or anionic complementary semi‐artificial β‐1,3‐glucans as “building blocks”. These β‐1,3‐glucans are known to wrap SWNTs helically, to create one‐dimensional superstructural composites. If the cationic composite is neutralized by an anionic composite, a well ordered SWNT‐based sheet structure was created. Transmission electron microscopy (TEM) observation revealed that this sheet structure is composed of highly‐ordered fibrous assemblies of SWNTs. This suggests that the cationic and anionic composites are tightly packed through electrostatic interactions. Moreover, both of the final assembly structures are readily tunable by adjusting the cation/anion ratio. The self‐assembling modulation of functional polymers is associated with the progress in ultimate nanotechnologies, thus enabling us to create numerous functional nanomaterials. We believe, therefore, that the present system will extend the frontier of SWNT research to assembly chemistry including “hierarchical” superstructures.
Module Assembly for Protein‐Surface Recognition: Geranylgeranyltransferase I Bivalent Inhibitors for Simultaneous Targeting of Interior and Exterior Protein Surfaces
Authors: Machida Shinnosuke , Usuba Kakeru , Blaskovich Michelle A. , Yano Akiko , Harada Kazuo , Sebti Saïd M. , Kato Nobuo , Ohkanda Junko 
Published: January 2008

AbstractSynthetic chemical probes designed to simultaneously targeting multiple sites of protein surfaces are of interest owing to their potential application as site specific modulators of protein–protein interactions. A new approach toward bivalent inhibitors of mammalian type I geranylgeranyltransferase (GGTase I) based on module assembly for simultaneous recognition of both interior and exterior protein surfaces is reported. The inhibitors synthesized in this study consist of two modules linked by an alkyl spacer; one is the tetrapeptide CVIL module for binding to the interior protein surface (active pocket) and the other is a 3,4,5‐alkoxy substituted benzoyl motif that contains three aminoalkyl groups designed to bind to the negatively charged protein exterior surface near the active site. The compounds were screened by two distinct enzyme inhibition assays based on fluorescence spectroscopy and incorporation of a [3H]‐labeled prenyl group onto a protein substrate. The bivalent inhibitors block GGTase I enzymatic activity with Ki values in the submicromolar range and are approximately one order of magnitude and more than 150 times more effective than the tetrapeptide CVIL and the methyl benzoate derivatives, respectively. The bivalent compounds 6 and 8 were shown to be competitive inhibitors, suggesting that the CVIL module anchors the whole molecule to the GGTase I active site and delivers the other module to the targeting protein surface. Thus, our module‐assembly approach resulted in simultaneous multiple‐site recognition, and as a consequence, synergetic inhibition of GGTase I activity, thereby providing a new approach in designing protein‐surface‐directed inhibitors for targeting protein–protein interactions.
Efficient Synthesis of the Structural Core of Tetracyclines by a Palladium‐Catalyzed Domino Tsuji–Trost–Heck–Mizoroki Reaction
Authors: Tietze Lutz F. , Redert Thomas , Bell Hubertus P. , Hellkamp Sascha , Levy Laura M. 
Published: January 2008

AbstractThe Pd‐catalyzed domino Tsuji–Trost–Heck–Mizoroki reactions of compounds 18, 27, and 34, respectively, each containing an allyl acetate and a halogen aryl moiety, lead to the formation of hexahydronaphthacenes 2 and 3 and octahydroanthracene 4 in 62–81 % yield. The octahydroanthracene and hexahydronaphthacene motifs are found in many natural products, for example, the tetracycline antibiotics.
Direct assignment of the absolute configuration of molecules from crystal morphology
Authors: Weissbuch Isabelle , Leiserowitz Leslie , Lahav Meir 
Published: January 2008

AbstractA method for direct assignment of the absolute configuration of molecules and the absolute structures of polar crystals, independent to that of Bijvoet, is described. The method correlates between the two‐dimensional packing arrangement of specific faces, that delineate crystals during their growth and dissolution, with molecules present in the environment. The structural information stored in these faces is transferred to “tailor‐made” molecules added to the solvent by controlled morphological changes induced to the growing crystals and by the creation of etch pits at specific crystal faces during their dissolution. In addition, the “tailor‐made” molecules are occluded enantioselectively as guests within specific sectors of the host crystals. The method is illustrated for a variety of molecules and crystals including the assignment of the absolute configuration of several α‐amino acids as “tailor‐made” additives in centrosymmetric crystals of glycine and serine, for the absolute structure of polar crystals of sugars and α‐amino acids and consequently the absolute configuration of molecules packed in such crystals. Chirality, 2008. © 2008 Wiley‐Liss, Inc.
HPLC enantioseparation and absolute configuration of novel anti‐inflammatory pyrrole derivatives
Authors: Biava Mariangela , Cirilli Roberto , Fares Vincenzo , Ferretti Rosella , Gallinella Bruno , La Torre Francesco , Poce Giovanna , Porretta Giulio Cesare , Supino Sibilla , Villani Claudio 
Published: January 2008

AbstractThe assignment of the absolute configuration of novel anti‐inflammatory pyrrole derivatives has been accomplished by a combined strategy based on independent physical methods. The key step of our stereochemical characterization approach is the production at mg‐scale of enantiomerically pure forms by HPLC on Chiralpak IA stationary phase. Chirality, 2008. © 2008 Wiley‐Liss, Inc.
A consideration of the patentability of enantiomers in the pharmaceutical industry in the United States
Authors: Miller Chris P. , Ullrich John W. 
Published: January 2008

AbstractDuring the last thirty years, concern over stereoselectivity of drug action has drawn a great deal of interest within the pharmaceutical field due to an improved understanding of the pharmacology and pharmacokinetics of enantiomers. Developing single enantiomers versus racemates or introducing a single enantiomer following the development of the racemic mixture appears to be the new trend. The intellectual property status of single enantiomers from racemates may be unclear. Drug discoverers and patent attorneys must examine the examples of the past to establish an appropriate pathway towards the development and intellectual property protection of chiral drugs. The review will focus on the patenting of an enantiomer in view of the prior art disclosure for the racemic mixture. Chirality, 2008. © 2008 Wiley‐Liss, Inc.