bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutation analysis impact on the genetic counseling of sporadic hemophilia B families
Authors: Bicocchi Maria Patrizia , Pasino Mirella , Bottini Federico , Lanza Tiziana , Mori Pier Giorgio , Acquila Maura 
Published: April 2003

AbstractPrevious studies have shown that hemophilia B (HB) is the result of several different mutations, mostly single nucleotide substitutions, in the factor IX (FIX) gene. In order to evaluate the impact of mutation analysis on genetic counseling in sporadic and uninformative HB familial pedigrees, we re‐analyzed by the conformation sensitive gel electrophoresis (CSGE) technique 14 patients, previously studied by restriction fragment length polymorphisms (RFLPs). A single mutation was present within the FIX gene of each patient: 12 mutations were single base substitutions, 1 was a base insertion, and 1 was a four nucleotide deletion; 4/12 mutations have not been described so far. By identifying the detrimental mutations in affected males, carrier status was correctly diagnosed in all the women we studied; 3/12 de novo events were found in maternal meioses with a 25% mutation rate. Identification of the genetic defect was also successfully applied to three prenatal diagnoses. © 2003 Wiley‐Liss, Inc.
Brachmann–de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: A result of mosaicism for a putative bdls gene mutation?
Authors: Zankl Andreas , Rampa Antonio , Schinzel Albert 
Published: April 2003

AbstractBrachmann–de Lange syndrome (BDLS, OMIM 122470) is a rare malformation syndrome characterized by mental retardation, short stature, limb abnormalities, and a distinctive craniofacial appearance. There is wide clinical variability and mildly affected patients are common. The genetic basis of BDLS and the reasons for its phenotypical variability are still unknown. We report on a patient with mild BDLS and the unusual findings of asymmetric growth of one body half and irregularly shaped pigmentary anomalies of the skin. These two traits have not been previously described in BDLS but have been associated with phenomena of genetic mosaicism in other conditions. We suggest that this patient's phenotype could be the result of mosaicism for a mutation or submicroscopic deletion affecting one or several genes responsible for BDLS. © 2003 Wiley‐Liss, Inc.
Crystallographic report: Diiodo[tris(2‐pyridyl)amine]zinc(II), [(C5H4N)3N]ZnI2
Authors: Ni Jia , Xie Yongshu , Liu Xueting , Liu Qingliang 
Published: April 2003

AbstractThe zinc(II) atom in the molecule of [(C5H4N)3N]ZnI2 is tetrahedrally coordinated to two nitrogen atoms of the tris(2‐pyridyl)amine ligand and two iodides. The coordination moieties are connected to give a linear structure by intermolecular π–π interactions between the pyridyl rings. Copyright © 2003 John Wiley & Sons, Ltd.
Curing kinetics of epoxy resin–imidazole–organic montmorillonite nanocomposites determined by differential scanning calorimetry
Authors: Xu Wei‐Bing , Bao Su‐Ping , Shen Shi‐Jun , Hang Guo‐Pei , He Ping‐Sheng 
Published: April 2003

AbstractThe curing kinetics of epoxy resin–imidazole–organic montmorillonite nanocomposites were investigated by differential scanning calorimetry (DSC) in the isothermal mode. X‐ray diffraction (XRD) analysis indicated the formation of a layered silicate–epoxy nanocomposite. The cure rates for the epoxy resin–imidazole–organic montmorillonite nanocomposite were lower than the values for the neat system at higher temperature (120 and 130°C), as indicated by the relation between the cure conversion and time. These results revealed that the autocatalytic model and the modified Avrami equation are both valid for describing the cure behaviors of epoxy resin–imidazole–organic montmorillonite systems. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 88: 2932–2941, 2003
Nuclear magnetic resonance studies of N‐vinylcarbazole/methyl methacrylate copolymers
Authors: Brar A. S. , Kaur Manpreet 
Published: April 2003

AbstractCopolymers of N‐vinylcarbazole and methyl methacrylate of different compositions were prepared by solution polymerization with azobisisobutyronitrile as an initiator, and their compositions were determined from quantitative 13C{1H}‐NMR spectroscopy. The reactivity ratios for the comonomers were calculated with the Kelen–Tudos and nonlinear error‐in‐variable methods. The complete spectral assignment of the overlapping 1H and 13C{1H} spectra of the copolymers was made with the help of distortionless enhancement by polarization transfer, two‐dimensional heteronuclear single‐quantum correlation, and total correlation spectroscopy. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 88: 3005–3012, 2003
Changes in bone mineral density following discontinuation or continuation of alendronate therapy in glucocorticoid‐treated patients: A retrospective, observational study
Authors: Emkey Ronald , Delmas Pierre D. , Goemaere Stefan , Liberman Uri A. , Poubelle Patrice E. , Daifotis Anastasia G. , Verbruggen Nadia , Lombardi Antonio , Czachur Michelle 
Published: April 2003

AbstractObjectiveTo evaluate the effects of discontinuing or continuing alendronate (ALN) therapy on bone mineral density (BMD) after patients on a long‐term regimen of glucocorticoids (GCs) completed a 1‐year treatment period with ALN.MethodsEligible patients were individuals with GC‐induced osteoporosis who had received ALN (5 or 10 mg) for 1 year in a prior clinical trial and, at the end of the year, were still taking GCs at an average daily dose of ≥7.5 mg of prednisone or equivalent. Patients were contacted 3–5 years after completion of the prior ALN trial for followup measurements of the lumbar spine BMD and hip BMD, and retrospective information was collected about serious or drug‐related adverse experiences and concomitant medication use. Some patients remained on GCs, and some remained on ALN, either alone or in combination with other drugs. The primary response parameter was the percentage change in lumbar spine BMD from the end of year 1 to the followup visit. Change in BMD at the hip was a secondary response parameter.ResultsNinety (49.2%) of the eligible 183 patients participated in the retrospective study. The followup period, which began at the end of year 1 of the original clinical trial, ranged from 3.3 years to 4.6 years. The mean number of days of treatment with ALN was 507. Fifty patients were included in the analysis because they had received supraphysiologic doses of GCs (doses above the lowest tertile of GC use for the study population; that is, higher than ∼6 mg/day), and they had not taken (defined as <6 months of use) other bone‐affecting agents except ALN. Eleven of the 50 patients discontinued taking ALN (duration of use <90 days), 8 took ALN between 90 days and 300 days, and 31 continued to take ALN for >300 days after year 1 of the clinical trial. GC users who discontinued treatment with ALN (<90 days of therapy) had numerically greater decreases in BMD at the lumbar spine, femoral neck, and total hip from the end of year 1 (mean change −5.1%, −9.2%, and −6.6%, respectively), compared with patients who continued to take ALN for >300 days (mean change 0.1%, −0.9%, and 1.8%, respectively).ConclusionSubstantial loss of BMD in the lumbar spine and hip was seen in patients who discontinued treatment with ALN but who continued to take >6 mg/day of GCs. However, patients receiving GCs who remained on the ALN regimen appeared to benefit from continued ALN treatment, since BMD was maintained in this latter group.
Treatment of systemic lupus erythematosus–associated type B insulin resistance syndrome with cyclophosphamide and mycophenolate mofetil
Authors: Gehi Anil , Webb Allison , Nolte Martha , Davis John 
Published: April 2003

AbstractSystemic lupus erythematosus (SLE) is an autoimmune disease characterized by loss of immunologic self‐tolerance and the subsequent development of autoantibodies. These antibodies are thought to be important in relation to the clinical manifestations of the disease. One example is the development of multiple cytopenias secondary to cytolytic or cytotoxic antibodies directed toward red blood cells, platelets, and white blood cells. Other antibodies may mediate abnormal cellular mechanisms such as those seen with neuropsychiatric manifestations of SLE. We report the occurrence of autoantibodies directed toward insulin receptors and the subsequent development of type B insulin resistance syndrome in a woman with SLE. This syndrome was treated successfully with cyclophosphamide and mycophenolate mofetil.
Validation of a novel satisfaction questionnaire for patients with rheumatoid arthritis receiving outpatient clinical nurse specialist care, inpatient care, or day patient team care
Authors: Tijhuis Gerhardus J. , Kooiman Kees G. , Zwinderman Aeilko H. , Hazes J. M. W. , Breedveld F. C. , Vliet Vlieland T. P. M. 
Published: April 2003

AbstractObjectivesTo develop and validate a questionnaire for measuring satisfaction with different forms of complex multidisciplinary care in patients with rheumatoid arthritis (RA).MethodsThe satisfaction questionnaire (score range 0–100) comprised 28 items covering 11 domains. Together with a visual analog scale (VAS, range 0–100) on overall satisfaction, the questionnaire was applied in 210 RA patients who participated in a randomized trial comparing 3 types of multidisciplinary care.ResultsThe questionnaire was returned by 174 patients (83%). The questionnaire and VAS scores in the total group were 75 (SD 12) and 83 (SD 20), respectively. Reliability analysis showed Cronbach's α of the questionnaire was 0.91. Spearman's correlation coefficient between the satisfaction questionnaire score and VAS score was 0.58 (P < 0.01). Mean total satisfaction questionnaire scores were 72 (SD 9), 76 (SD 14), and 78 (SD 11), in the nurse specialist, inpatient and day patient groups, respectively (nurse specialist versus day patient, P = 0.004). Significant differences between nurse specialist and day patients were seen in the following domains: waiting time during the treatment, autonomy, coordination, non‐financial access, and quality of general information (all P < 0.05).ConclusionOverall, patients were highly satisfied with the multidisciplinary care they received. Major differences regarding the organization of care were reflected in the results of the questionnaire scores. The satisfaction questionnaire appears to be a useful instrument for measuring satisfaction with complex multidisciplinary care in RA patients.
Simple and rapid bioluminescent detection of two verotoxin genes using allele‐specific PCR of E. coli O157: H7
Authors: Imamura O. , Arakawa H. , Maeda M. 
Published: April 2003

AbstractAllele‐specific PCR for E. coli O157 was conducted with primers specific to verotoxin genes, verotoxin 1 (VT1) and verotoxin 2 (VT2). VT is an important cause of haemorrhagic colitis (HC) and haemolytic uraemic syndrome (HUS) worldwide. We developed a simple, rapid bioluminescent detection method for E. coli O157. The method is based on the determination of pyrophosphoric acid (PPi) released during allele‐specific PCR. Thus, released PPi is converted to ATP by ATP sulphurylase and the concentration of ATP is determined using the firefly luciferase reaction. As a result, VT1, VT2 and DNA with VT1/VT2 were clearly identified by this method. This protocol, which does not require expensive equipment, can be utilized to monitor the PCR product rapidly. Additionally, this methodology can be used as a high‐throughput approach for measuring PCR products. Copyright © 2003 John Wiley & Sons, Ltd.
Effects of long‐distance running on serum opsonic activity measured by chemiluminescence
Authors: Saito Daisuke , Nakaji Shigeyuki , Umeda Takashi , Kurakake Shigeyoshi , Danjo Kazuma , Shimoyama Tadashi , Sugawara Kazuo 
Published: April 2003

AbstractExhaustive exercise such as long‐distance running has been shown to increase susceptibility to infection. In order to investigate whether serum opsonic activity plays a role in such conditions, we utilized luminol‐dependent and lucigenin‐dependent chemiluminescence (LmCL and LgCL). We took serum samples from 24 male marathon runners before and after running 30 km. Neutrophils were isolated from the peripheral blood of healthy volunteers. Serum opsonic activity was examined by measuring neutrophil ROS stimulated with zymosan particles opsonized by the serum samples. Immunoglobulin and complement levels in the serum were also measured. After a 30 km run, the maximum light emission was increased and the time to reach the maximum light emission was shortened significantly (p < 0.05) in LmCL. However, there were no significant changes in the immunoglobulin and complement levels. The increase of ROS production may suggest that serum opsonic activity is accelerated after running 30 km. Thus, serum opsonic activity might not play a significant role in the susceptibility to infection after long‐distance running. Copyright © 2003 John Wiley & Sons, Ltd.
Flow injection chemiluminescent assays for glycerol and triglycerides using a co‐immobilized enzyme reactor
Authors: Yaqoob M. , Nabi A. 
Published: April 2003

AbstractA flow injection method for the determination of glycerol using a co‐immobilized enzyme reactor containing glycerokinase and glycerol‐3‐phosphate oxidase is described. The hydrogen peroxide produced is monitored by using a luminol chemiluminescence reaction in the presence of catalyst such as Co(II). The detection limit (2.5 × blank noise) for glycerol is 7 × 10−3 mmol/L with a sample throughput of 40/h. The calibration graph is linear over the range studied (0.2–1.0 mmol/L) with relative standard deviation 1.2–2.4%. The method is applied to the determination of glycerol in blood serum produced off‐line from triglycerides using lipase isolated from bovine pancreas. Copyright © 2003 John Wiley & Sons, Ltd.
Chemiluminescence of pulmonary macrophages from patients with inactive sarcoidosis, in different radiological stages
Authors: Czuba Zenon P. , Zydowicz Grzegorz , Ziora Dariusz , Cieslicki Jan , Oklek Kazimierz , Beck Brygida , Shani Jashovam , Krol Wojciech 
Published: April 2003

AbstractLuminol‐amplified chemiluminescence was generated by alveolar macrophages, harvested from the bronchoalveolar lavages of 16 patients with different radiological stages of non‐invasive (asymptomatic) sarcoidosis. None of the patients received any steroid therapy during this study. The mean duration of the disease in these patients was 8 months, with a duration time range of 6–14 months. Six patients were in radiological stage 1, five in radiological stage 2 and five in radiological stage 3. Alveolar macrophages from bronchoalveolar lavages of eight healthy non‐smoking volunteers were used as controls. All alveolar macrophages were stimulated by phorbol myristate acetate. A significant decrease was recorded in the intensity of chemiluminescence generated by the phorbol‐ester‐stimulated alveolar macrophages obtained from patients with sarcoidosis of radiological stages 1 and 2, as compared to the cells collected from healthy individuals (controls). No decrease was recorded in the chemiluminescence generated by stimulated alveolar macrophages collected from patients with radiological stage 3, or from unstimulated alveolar macrophages of any patient. These results provide us with an indicative tool, which might enable us to differentiate, on a functional basis, between the activities of alveolar macrophages in non‐active sarcoidosis. Copyright © 2003 John Wiley & Sons, Ltd.
Percutaneous permeation of enantiomers and racemates of chiral drugs and prediction of their flux ratios using thermal data: A pharmaceutical perspective
Authors: Afouna Mohsen I. , Fincher Timothy K. , Khan Mansoor A. , Reddy Indra K. 
Published: April 2003

AbstractAlbeit pharmacological, pharmacokinetic, and toxicological differences between enantiomeric pairs or between the pure enantiomers and racemate of chiral drugs are known to exist for decades, we are just beginning to realize that there are apparent differences between these species with respect to their percutaneous permeation as well. Such differences in permeation are likely to be enhanced when chiral drugs are formulated with chiral excipients, necessitating a careful assessment of the effect of formulation excipients on the permeation as well as the overall therapeutic outcomes. The in vitro transport data from the preclinical investigations, using laboratory animal models and/or in vitro cell culture systems, must be carefully validated in vivo as there are differences between these models and the human skin. Mathematical models such as MTMT that utilize the interdependence of certain physicochemical characteristics and percutaneous permeability have a predictive value in assessing the flux behavior of enantiomers and racemates. Chirality 15:456–465, 2003. © 2003 Wiley‐Liss, Inc.
Algebraic structure of central molecular chirality starting from Fischer projections
Authors: Capozziello Salvatore , Lattanzi Alessandra 
Published: April 2003

AbstractThe construction of algebraic structure of central molecular chirality is provided starting from the empirical Fischer projections for tetrahedrons. A matrix representation is given and the algebra of O(4) orthogonal group for rotations and inversions is identified. The result can be generalized to chains of connected tetrahedrons. Chirality 15:466–471, 2003. © 2003 Wiley‐Liss, Inc.
Architectonic subdivision of the human orbital and medial prefrontal cortex
Authors: Öngür Dost , Ferry Amon T. , Price Joseph L. 
Published: April 2003

AbstractThe structure of the human orbital and medial prefrontal cortex (OMPFC) was investigated using five histological and immunohistochemical stains and was correlated with a previous analysis in macaque monkeys [Carmichael and Price (1994) J. Comp. Neurol. 346:366–402]. A cortical area was recognized if it was distinct with at least two stains and was found in similar locations in different brains. All of the areas recognized in the macaque OMPFC have counterparts in humans. Areas 11, 13, and 14 were subdivided into areas 11m, 11l, 13a, 13b, 13m, 13l, 14r, and 14c. Within area 10, the region corresponding to area 10m in monkeys was divided into 10m and 10r, and area 10o (orbital) was renamed area 10p (polar). Areas 47/12r, 47/12m, 47/12l, and 47/12s occupy the lateral orbital cortex, corresponding to monkey areas 12r, 12m, 12l, and 12o. The agranular insula (areas Iam, Iapm, Iai, and Ial) extends onto the caudal orbital surface and into the horizontal ramus of the lateral sulcus. The growth of the frontal pole in humans has pushed area 25 and area 32pl, which corresponds to the prelimbic area 32 in Brodmann's monkey brain map, caudal and ventral to the genu of the corpus callosum. Anterior cingulate areas 24a and 24b also extend ventral to the genu of the corpus callosum. Area 32ac, corresponding to the dorsal anterior cingulate area 32 in Brodmann's human brain map, is anterior and dorsal to the genu. The parallel organization of the OMPFC in monkeys and humans allows experimental data from monkeys to be applied to studies of the human cortex. J. Comp. Neurol. 460:425–449, 2003. © 2003 Wiley‐Liss, Inc.
Localization of GABAA receptor subunits α1, α3, β1, β2/3, γ1, and γ2 in the salamander retina
Authors: Zhang Jun , De Blas Angel L. , Miralles Celia P. , Yang Chen‐Yu 
Published: April 2003

AbstractElectrophysiological studies have demonstrated that γ‐aminobutyric acid receptors type A (GABAA) mediate important information processing in the retinas of salamander and other vertebrates. The pharmacology and physiology of GABAA receptors depend on their subunit composition. We studied the localization of GABAA receptor subunit isoforms α1, α3, β1, β2/3 (antibody BD‐17 and 62‐3G1), γ1, and γ2 in salamander retina with immunocytochemical methods. All three β‐subunit antibodies labeled similarly in the outer retina, especially the inner segments and synaptic terminals of rod photoreceptors (identified with protein kinase C). Somatic labeling was observed in cell bodies of some horizontal cells, bipolar cells, amacrine cells, and cells in the ganglion cell layer (GCL). Puncta were present throughout the inner plexiform layer (IPL) for β1 and 62‐3G1, but not for BD‐17. α1‐immunoreactivity (IR) stained a population of presumed OFF rod‐dominated bipolar cells, including dendrites, soma, and axon terminals in the distal IPL. A subtype of GABAergic amacrine cell also expressed α1‐IR, with puncta sparsely distributed at the distal and proximal margins of the IPL. Both the OPL and IPL were labeled throughout for α3‐IR, as opposed to the narrow distribution of α1‐IR in the IPL, suggesting that the two α‐subunits are localized at different synaptic sites. Punctate γ1‐IR was observed in the OPL and IPL, whereas γ2 was most prominent in cone photoreceptors (identified with calbindin), including the terminal telodendria, in cell bodies of some horizontal cells, amacrine cells, cells in the GCL, and less intensely in the IPL. In addition, several subunits were present in Müller cells. The differential labeling suggests the existence of GABAA receptor subtypes with different subunit compositions that mediate multiple GABAergic functions in salamander retina. J. Comp. Neurol. 459:440–453, 2003. © 2003 Wiley‐Liss, Inc.
A multisensory zone in rat parietotemporal cortex: Intra‐ and extracellular physiology and thalamocortical connections
Authors: Brett‐Green Barbara , Fifková Eva , Larue David T. , Winer Jeffery A. , Barth Daniel S. 
Published: April 2003

AbstractMultisensory integration is essential for the expression of complex behaviors in humans and animals. However, few studies have investigated the neural sites where multisensory integration may occur. Therefore, we used electrophysiology and retrograde labeling to study a region of the rat parietotemporal cortex that responds uniquely to auditory and somatosensory multisensory stimulation. This multisensory responsiveness suggests a functional organization resembling multisensory association cortex in cats and primates. Extracellular multielectrode surface mapping defined a region between auditory and somatosensory cortex where responses to combined auditory/somatosensory stimulation were larger in amplitude and earlier in latency than responses to either stimulus alone. Moreover, multisensory responses were nonlinear and differed from the summed unimodal responses. Intracellular recording found almost exclusively multisensory cells that responded to both unisensory and multisensory stimulation with excitatory postsynaptic potentials (EPSPs) and/or action potentials, conclusively defining a multisensory zone (MZ). In addition, intracellular responses were similar to extracellular recordings, with larger and earlier EPSPs evoked by multisensory stimulation, and interactions suggesting nonlinear postsynaptic summation to combined stimuli. Thalamic input to MZ from unimodal auditory and somatosensory thalamic relay nuclei and from multisensory thalamic regions support the idea that parallel thalamocortical projections may drive multisensory functions as strongly as corticocortical projections. Whereas the MZ integrates uni‐ and multisensory thalamocortical afferent streams, it may ultimately influence brainstem multisensory structures such as the superior colliculus. J. Comp. Neurol. 460:223–237, 2003. © 2003 Wiley‐Liss, Inc.