bluuebunny/crossref_metadata_2025_split huggingface dataset:
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene
Authors: Leroy Jules G. , Nuytinck Lieve , Lambert Jo , Naeyaert Jean‐Marie , Mortier Geert R. 
Published: November 2007

AbstractA girl with a mild sporadic osteochondrodysplasia (OCD) similar to hypochondroplasia but with significant short stature is reported. She has been followed clinically between the ages of 9 months and 14 years. Growth remained normal throughout childhood with stature evolving about 3.5 SDs under the mean for age. By 8 years of age gradually appearing acanthosis nigricans (AN) in the neck and flanks was histopathologically confirmed. It provided the new incentive to search for specific FGFR3 mutations associated with this dermatologic abnormality. This resulted in the identification of the 1948A > C transversion predicting the K650Q missense substitution in the FGFR3 protein. Besides the expansion of the phenotypic spectrum of FGFR3‐related OCDs to HCH with AN, this observation underscores the continuing adverse effect of this specific mutation upon the normal inhibitory signaling of the receptor at least in epidermal cells. © 2007 Wiley‐Liss, Inc.
Cyclopia, aprosencephaly, and acardiac twinning: Is hypoxia‐ischemia a unifying mechanism?
Authors: Siebert Joseph R. 
Published: November 2007

AbstractIn a recent case of monochorionic diamniotic twinning we observed one twin with acardia, cyclopia, and aprosencephaly, an association not reported previously. In most cases of acardia, the development of tissues in superior regions of the body is disrupted severely, while inferior structures develop more normally. A common explanation for this disruption is hypoxia‐ischemia due to twin reversed arterial perfusion (TRAP). In this condition, arterial–arterial and venous–venous anastomoses in the placenta permit twin–twin transfusion and reversal of blood flow in the umbilical vessels and aorta of the recipient twin. The heart is absent or severely deficient, either by secondary atrophy or possibly a more primary, though currently unknown, mechanism. As a result, cranial tissues are less likely to be perfused with oxygenated blood than caudal tissues. A host of craniocerebral anomalies are observed in acardia, including total absence of the head and brain, rudimentary brain, anencephaly, holoprosencephaly, neuronal migration defects, and near‐normal brain. Hypoxia‐ischemia could be an important factor in the disruption of tissues in the present case, although a more generalized process affecting heart, head, and brain cannot be excluded. The findings suggest that hypoxia‐ischemia may play a role in the pathogenesis of some cases of holoprosencephaly and aprosencephaly. This mechanism has been underreported and requires additional investigation. © 2007 Wiley‐Liss, Inc.
Severe presentation of Beckwith–Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15
Authors: Smith Adam C. , Shuman Cheryl , Chitayat David , Steele Leslie , Ray Peter N. , Bourgeois Jaqueline , Weksberg Rosanna 
Published: November 2007

AbstractBeckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by macrosomia, macroglossia, omphalocele, hemihyperplasia, and increased tumor risk. BWS can be associated with genetic and/or epigenetic alterations that modify imprinted gene expression on chromosome 11p15.5. Somatic mosaicism for paternal uniparental disomy (UPD) of chromosome 11p15, found in 20% of BWS patients, is associated with specific features of BWS including hemihyperplasia, Wilms tumor, and hepatoblastoma. The highly variable phenotypic spectrum of BWS associated with UPD may well reflect the level of UPD 11 cells in specific organs and tissues such that very high levels of UPD might produce a more severe phenotypic expression of BWS. In this regard we report on two patients with severe presentations of BWS and extremely high levels of UPD in DNA from lymphocytes. Clinically, both patients demonstrated extreme macroglossia, persistent hypoglycemia, cardiomyopathy, hemihyperplasia, renal abnormalities, abdominal organomegaly, hepatoblastoma and died in the first 6 months of life. These two patients support the hypothesis that high levels of UPD define high expressivity in BWS. © 2007 Wiley‐Liss, Inc.
The morphogenesis of wormian bones: A study of craniosynostosis and purposeful cranial deformation
Authors: Sanchez‐Lara Pedro A. , Graham John M. , Hing Anne V. , Lee John , Cunningham Michael 
Published: November 2007

AbstractWormian bones are accessory bones that occur within cranial suture and fontanelles, most commonly within the posterior sutures. They occur more frequently in disorders that have reduced cranial ossification, hypotonia or decreased movement, thereby resulting in deformational brachycephaly. The frequency and location of wormian bones varies with the type and severity of cranial deformation practiced by ancient cultures. We considered the hypothesis that the pathogenesis of wormian bones may be due to environmental variations in dural strain within open sutures and fontanelles. In order to explore this further, we measured the cephalic index (CI) in 20 purposefully deformed pre‐Columbian skulls: 10 from Chichen Itza, Mexico, and 10 from Ancon, Peru, as well as 20 anatomically normal skulls used for medical school anatomy classes. We tested for a direct correlation between the CI and the number of wormian bones in skulls with varying degrees of brachycephalic cranial deformation and found no significant correlation. When the CI was grouped into three categories (normal (CI < 81), brachycephalic (CI 81‐93), and severely brachycephalic (CI > 93)) there was a trend toward increasing number of wormian bones as the skull became more brachycephalic (P = 0.039). A second part or our study tabulated the frequency and location of large wormian bones (greater than 1 cm) in 3‐dimentional computerized tomography (3D‐CT) scans from 207 cases of craniosynostosis and compared these data with published data on 485 normal dry skulls from a manuscript on wormian bones by Parker in 1905. Among cases of craniosynostosis, large wormian bones were significantly more frequent (117 out of 207 3D‐CT scans) than in dry skulls (131 out of 485). There was a 3.5 greater odds of developing a wormian bone with premature suture closure (P < 0.001). Midline synostosis, specifically metopic or sagittal synostosis, has more wormian bones in the midline, whereas unilateral lambdoidal or coronal synostosis more often had wormian bones on the contralateral side. Taken together, these data suggest that wormian bones may arise as a consequence of mechanical factors that spread sutures apart and affect dural strain within sutures and fontanelles. © 2007 Wiley‐Liss, Inc.
Brain anomalies in encephalocraniocutaneous lipomatosis
Authors: Moog Ute , Jones Marilyn C. , Viskochil David H. , Verloes Alain , Van Allen Margot I. , Dobyns William B. 
Published: November 2007

AbstractEncephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, skin lesions, and CNS anomalies. We report on four new patients with this syndrome. Additionally, we reviewed (i) the brain imaging studies and clinical data of these new cases of ECCL and six other previously published ECCL patients, and (ii) the literature on 42 other patients who had undergone some form of neuroimaging, including three cases with probable or uncertain ECCL diagnoses. Thirty‐three of 52 patients showed intracranial lipomas, frequently of cerebello‐pontine location, and/or spinal lipomatosis. The latter has been found in 12/13 patients who had imaging studies of the spine. Other frequent findings included congenital anomalies of the meninges, in particular arachnoid cysts, and remarkably asymmetric anomalies caused by putative focal vascular defects, such as (partial) atrophy of one hemisphere or thin cerebral mantle, porencephalic cysts and calcifications. Vessel anomalies were found in nine patients. No correlation between the brain anomalies and the degree of retardation or epilepsy could be established. These data provide evidence that the brain anomalies in ECCL are not primary brain malformations but arise secondary to a mesenchymal defect affecting mostly neural crest derivatives. © 2007 Wiley‐Liss, Inc.
Emerging infections and pregnancy: Assessing the impact on the embryo or fetus
Authors: Rasmussen Sonja A. , Hayes Edward B. , Jamieson Denise J. , O'Leary Daniel R. 
Published: November 2007

AbstractThe teratogenicity of several infections when acquired during pregnancy is well documented. However, for emerging infections (defined as those for which the incidence has risen in the past two decades or threatens to rise in the near future), the prenatal effects are often unknown, raising concern among women and their health care providers. Investigation of these effects is essential to ensure that pregnant women are appropriately assessed, advised, and treated, but such investigation is often challenging. The impact of emerging infections on the embryo or fetus is difficult to predict and varies depending on the agent and gestational timing of infection. Some women might be asymptomatic or have only mild or nonspecific symptoms, and thus, not be identified as infected, even when the embryo or fetus is severely affected. In addition, diagnosing congenital infection is often complicated. This article will discuss challenges to studying the teratogenicity of emerging infections, advantages, and disadvantages of different study designs, and examples of previous studies of the effects of emerging infections on the embryo or fetus. Published 2007 Wiley‐Liss, Inc.
Development: Clinical and evolutionary considerations
Authors: Opitz John M. 
Published: November 2007

AbstractThe Linnean tercentenary is a most welcome opportunity to celebrate the complimentary contributions of the molecular taxonomists and the morphologists in establishing a “natural order” of living organisms depending on degree of relatedness and the 70th anniversary of birth of our friend and colleague, M. Michael Cohen Jr. These events lead one to reflect on the relationship between evolution and normal, respectively abnormal development. In part due to Mike Cohen's efforts, such reflections will at last also creep into the clinic given that more and more malformations are understood ontogenetically and phylogenetically on the basis of homology in structure, development and genetic basis in more or less closely related organisms. It is inconceivable how such an understanding can allow anyone to deny the reality of evolution and its implications for the antiquity of the earth, and its biosphere and the vulnerability of all species, humans included, for extinction. © 2007 Wiley‐Liss, Inc.
Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification
Authors: Stachon Andrea C. , Baskin Berivan , Smith Adam C. , Shugar Andrea , Cytrynbaum Cheryl , Fishman Leona , Mendoza‐Londono Roberto , Klatt Regan , Teebi Ahmed , Ray Peter N. , Weksberg Rosanna 
Published: November 2007

Abstract22q11 Deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans, occurring with an incidence of 1 in 4,000. In most cases the submicroscopic deletion spans 3 Mb, but there are a number of other overlapping and non‐overlapping deletions that generate a similar phenotype. The majority of the 22q11.2 microdeletions can be ascertained using a standard fluorescence in situ hybridization (FISH) assay probing for TUPLE1 or N25 on 22q11.2. However, this test fails to detect deletions that are either proximal or distal to the FISH probes, and does not provide any information about the length of the deletion. In order to increase the detection rate of 22q11.2 deletion and to better characterize the size and position of such deletions we undertook a study of 22q11.2 cases using multiplex ligation dependent probe amplification (MLPA). We used MLPA to estimate the size of the 22q11.2 deletions in 51 patients positive for TUPLE1 or N25 (FISH) testing, and to investigate 12 patients with clinical features suggestive of 22q11DS and negative FISH results. MLPA analysis confirmed a microdeletion in all 51 FISH‐positive samples as well as microduplications in three samples. Further, it allowed us to delineate deletions not previously detected using standard clinical FISH probes in 2 of 12 subjects with clinical features suggestive of 22q11DS. We conclude that MLPA is a cost‐effective and accurate diagnostic tool for 22q11DS with a higher sensitivity than FISH alone. Additional advantages of MLPA testing in our study included determination of deletion length and detection of 22q11.2 duplications. © 2007 Wiley‐Liss, Inc.
Brief communication: Two and three‐dimensional analysis of bone mass and microstructure in a bog body from the Iron Age
Authors: Schilling Arndt F. , Kummer Tobias , Marshall Robert P. , Bauerochse Andreas , Jopp Eilin , Pueschel Klaus , Amling Michael 
Published: November 2007

AbstractHuman remains from peat bogs, called “bog bodies,” have yielded valuable insights into human history because of their excellent preservation of soft tissue. On the other hand, the acidic environment of the peat leads to an extensive demineralization of skeletal elements, complicating their analysis. We studied the skeleton of the bog body “Moora” dated to ∼650 B.C. Nondestructive evaluation of the bone was made using contact X‐rays, peripheral quantitative computed tomography (pQCT) analysis, multislice computed tomography (CT) and high resolution micro computed tomography (μCT) imaging. Two thousand seven hundred years in the acidic environment of the bog led to a loss of 92.7% of bone mineral density. Despite this demineralization and in contrast to other bog bodies, the spatial structure of the bones of “Moora” is exceptionally well preserved. We found Harris lines and were able to obtain the first three‐dimensional data on the trabecular microstructure of the bone of a young woman from the early Iron Age. Am J Phys Anthropol, 2008. © 2007 Wiley‐Liss, Inc.
Effects of quasi‐nanogel particles on the rheological and mechanical properties of natural rubber: A new insight
Authors: Mitra Suman , Chattopadhyay Santanu , Bhowmick Anil K. 
Published: November 2007

AbstractThe influence of sulfur‐crosslinked, quasi‐nanosized gels on the rheological and mechanical properties of raw natural rubber (NR) was investigated. Latex gels with different crosslink densities were prepared through the variation of the sulfur‐to‐accelerator ratio. These gels were characterized by dynamic light scattering, solvent swelling, and mechanical properties. The gels were mixed with raw NR latex at concentrations of 2, 4, 8, and 16 phr, and their effect on the rheological properties of NR was studied by Monsanto processability tester. The presence of gel in raw NR reduced the apparent shear viscosity and die swell considerably. Initially, the viscosity decreased up to a 8 phr gel loading and then increased with an increase in the gel loading. However, the change in the viscosity was related to the crosslink density of the gels. A new empirical equation relating the viscosity, volume fraction of the gels, and crosslink density was proposed. The die swell of gel‐filled raw NR was at least 10% lower than that of unfilled raw NR and decreased with an increase in the gel loading. The effect of the gels on the die swell properties was explained through the calculation of the principal normal stress difference of gel‐filled NR systems. Scanning electron photomicrographs of the extrudates revealed much better surface smoothness for the gel‐filled virgin rubber systems than for the unfilled rubber. The addition of the gels to raw NR increased the modulus and tensile strength, whereas the elongation at break decreased. The effect of the gels on the dynamic mechanical properties of NR was also investigated. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
The surface modification of nanosilica, preparation of nanosilica/acrylic core‐shell composite latex, and its application in toughening PVC matrix
Authors: Guo Yakun , Wang Meiying , Zhang Hongqi , Liu Guodong , Zhang Liqun , Qu Xiongwei 
Published: November 2007

AbstractThe properties and morphology of nanosilica modified with silane coupling agent, methacryloxypropyltrimethoxysilane (MPS), were characterized by fourier transform infrared, zeta potentials, thermogravimetric analysis, and transmission electron microscopy. The results showed that the grafting ratio of MPS on the surface of nanosilica increased with the MPS content. MPS‐silica/PBA/PMMA core‐shell latexes (MPS‐Si/ACR) were prepared by seeded emulsion polymerization. Then they were used to mix with PVC resin. The outer layer (PMMA) enhanced the dispersibility of MPS‐Si/ACR in the PVC matrix by increasing the interfacial interaction of these composite particles with PVC. The notched impact strengths of the blends were influenced by the weight ratio of MPS to silica, the concentration of emulsifier (SDS), and the MPS‐Si/ACR content. The relationships between the mechanical properties and the core‐shell composite structures were elaborated. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci 2008
Sub‐gridscale parametrization from the perspective of a computer games animator
Authors: Shutts Glenn , Allen Thomas 
Published: November 2007

AbstractInspired by the techniques used by animators, it is argued that sub‐gridscale parametrizations (such as those representing deep convection and mountain drag) could be computed on a finer grid than the Numerical Weather Prediction (NWP) model and use the same dynamical equations but with reduced‐complexity physics and reduced‐accuracy numerical techniques. This fine‐scale parametrization grid would correctly capture the spatial and temporal correlation scales of the modelled processes as well as non‐equilibrium aspects which are usually absent from conventional parametrization schemes (e.g. diurnal cycle in convection). Reducing the accuracy requirement at the fine scale, as well as the algorithmic complexity of multiple interacting physical processes, could bring forward in time some of the benefits of global convective‐scale resolution that are beyond current computational resources. © Crown Copyright 2007. Reproduced with the permission of Her Majesty's Stationery Office. Published by John Wiley & Sons, Ltd.
Computer‐based teaching of word construction and reading in two students with developmental disabilities
Authors: Sugasawara Hiroshi , Yamamoto Jun‐ichi 
Published: November 2007

AbstractStudents with developmental disabilities often have difficulty in learning the systematic relations between syllables (auditory stimuli) and characters (visual stimuli) required for reading. Two students with developmental disabilities participated in the present study which used computer‐based teaching applied in the home. We examined whether the students could read individual Japanese Hiragana characters after training with a constructional MTS procedure with differential outcome (DO) that was designed to teach word‐construction for pictured sample stimuli. The DO procedure provided the differential stimulus (in this case spoken syllables) after response selection. The results showed that the students not only acquired appropriate word‐construction responses through this task, they also learned to read Hiragana characters without direct training of this skill. The results are discussed in terms of the effect of the constructional MTS procedure with DO on the acquisition and transfer of reading characters and the applicability of computer‐based home teaching. Copyright © 2007 John Wiley & Sons, Ltd.
Liquid chromatographic fluorescence determination of amino acids in plasma and urine after derivatization with phanquinone
Authors: Gatti Rita , Gioia Maria Grazia 
Published: November 2007

AbstractPhanquinone (4,7‐phenanthroline‐5,6‐dione) has been investigated as a pre‐column derivatization fluorogenic reagent for liquid chromatographic determination of primary amino acids in biological samples. The derivatization reaction was carried out at 68°C both in the presence of aqueous phosphate buffer (pH 8) for 30 min and without buffer for 60 min to allow the determination of basic amino acids (Orn, Lys, Arg). The resulting derivatives were separated under reversed‐phase HPLC and detected at λem = 460 nm with λex = 400 nm. The proposed method was validated and applied to the determination of a variety of amino acids directly in urine and after deproteinization with 5‐sulfosalicylic acid in plasma samples. The detection and quantitation limits were found in the range 10–450 and 35–1400 fmol, respectively. Copyright © 2007 John Wiley & Sons, Ltd.
A simple and cost effective method for the quantification of 8‐hydroxy‐2′‐deoxyguanosine from urine using liquid chromatography tandem mass spectrometry
Authors: Crow Brian , Bishop Michael , Kovalcik Kasey , Norton Dean , George Joe , Bralley J. Alexander 
Published: November 2007

AbstractA rapid and high‐throughput method for the determination of urinary levels of the oxidative stress biomarker, 8‐hydroxy‐2′‐deoxyguanosine (8‐OH‐dG), has been developed and validated using liquid chromatography combined with electrospray ionization tandem mass spectrometry (LC‐MS/MS). The assay features a cheap and readily available non‐isotopic internal standard, a single‐step filtration sample preparation, and a total analysis time of 6 min including column re‐equilibration. The method was validated based on linearity, accuracy (100–106%), precision (CV < 7%), sample preparation stability (≤5%, 72 h). Intra‐laboratory patient ranges were established comparing children and adults (n = 345). Copyright © 2007 John Wiley & Sons, Ltd.
Development and validation of a liquid chromatography/tandem mass spectrometry assay for the quantification of methyl protodioscin in rat plasma: application to a pharmacokinetic study
Authors: Cao Xiuzhen , Yao Zhihong , Chen Haifeng , Dai Yi , Sun Pinghua , Ye Wencai , Yao Xinsheng 
Published: November 2007

AbstractA high performance liquid chromatography/tandem mass spectrometry assay was first developed and validated for the quantification of methyl protodioscin (MPD), a natural furostanol saponin with distinct antitumor activity, in rat plasma with 17α‐ethinylestradiol as internal standard (IS). Methanol‐mediated protein precipitation was employed for plasma sample pretreatment. The separation was achieved on a C18 column (150 × 4.6 mm, i.d., 5 µm) by isocratic elution with methanol–water (72:28, v/v) as mobile phase at a flow rate of 1.0 mL/min. Ion acquisition was performed in selective reaction monitoring positive mode by monitoring the transition of m/z 1085.7 → 1053.7 for MPD, and in selective ion monitoring negative mode by monitoring the deprotonated ion m/z 295.5 for IS. The assay was linear over the concentration range of 2.024–270.0 µg/mL with 2.024 µg/mL as the lower limit of quantification. It was specific, accurate, precise and reproducible with intra‐ and inter‐run RSD <8.3% and RE between −11.5 and 12.8%. The assay was successfully applied to a preclinical pharmacokinetic study after an intravenous dose of 40 mg/kg MPD to rats. Copyright © 2007 John Wiley & Sons, Ltd.