bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal origin of chromosomal translocations in acute childhood leukemia: Implications and future directions
Authors: McHale Cliona M. , Smith Martyn T. 
Published: March 2004

AbstractWe, and others, have demonstrated an in utero origin for translocations associated with childhood leukemia, with latency periods in some cases exceeding 10 years. The mechanism of generation of most of the translocations is thought to be aberrant repair following abortive apoptosis, rather than V(D)J recombination or exposure to topoisomerase II inhibitors. Folate supplementation may prevent some of the chromosome breakage leading to translocation formation. Translocations t(8;21) and t(12;21) have been shown to occur in the normal population (before birth) at a frequency that is 100‐fold greater than the risk of developing the corresponding leukemia. In most instances, additional genetic changes are required for progression to leukemia. Tyrosine kinase receptor (RTK) mutations, which give cells a survival/proliferative advantage, are proposed to act cooperatively with fusion genes, leading to transformation. However, translocations and cooperating RTK mutations have not been identified for all leukemia subtypes, particularly in acute myeloid leukemia. The core binding transcriptional pathway is frequently targeted by translocation in utero. We propose that this pathway is highly sensitive during fetal hematopoiesis and may be targeted by mechanisms other than translocation. For each leukemia subtype it is important to characterize the corresponding leukemic stem cell, which is thought to be the initial target for translocation. This would help to elucidate the molecular pathways involved in the progression from preleukemic clone harboring a translocation to fully disseminated leukemia. Am. J. Hematol. 75:254–257, 2004. © 2004 Wiley‐Liss, Inc.
Prompt response to rituximab of severe hemolytic anemia with both cold and warm autoantibodies
Authors: Webster Duncan , Ritchie Bruce , Mant Michael J. 
Published: March 2004

AbstractA 71‐year‐old male with severe autoimmune hemolysis with both cold agglutinins and warm antibodies was intolerant of prednisone and cyclophosphamide. Rituximab was given during a 60‐day period when he required 41 units of packed cells to maintain hemoglobin above 75 g/l. Two weeks later hemoglobin stabilized at 95 g/l, and further transfusions were not required. A second course of rituximab was given 4 months later for continued hemolysis. A satisfactory hemoglobin was maintained for 9 months from initial treatment, when hemoglobin again fell to 65 g/L. A prompt response to a third course of rituximab was obtained. This is the second patient with both cold agglutinins and warm antibodies with severe hemolytic anemia who has had a prompt response to rituximab. This treatment should be considered when a rapid response is needed or when a patient has failed to respond to more standard therapies. Am. J. Hematol. 75:258–259, 2004. © 2004 Wiley‐Liss, Inc.
Psychotic disorders in Prader–Willi syndrome
Authors: Vogels A. , Hert M. De , Descheemaeker M.J. , Govers V. , Devriendt K. , Legius E. , Prinzie P. , Fryns J.P. 
Published: March 2004

AbstractThe Prader–Willi syndrome (PWS) is a genetically determined developmental disorder caused by abnormalities of the proximal region of chromosome 15q11‐13. In a previous study, we reported that psychotic episodes, occurring in 16% of persons with PWS, had an onset in adolescence, never occurred in persons with paternal deletion, and were exclusively associated with maternal uniparental disomy (UPD) or imprinting abnormalities (IM). In order to gain a better understanding of the psychopathology and to further refine the psychiatric diagnosis, we describe in more detail the psychopathological manifestations of six adults with a history of psychotic episodes. All these individuals had a detailed psychiatric examination, including the use of the operational criteria (OPCRIT) checklist. An identifiable subtype of psychotic disorder was associated with PWS. Characteristics include early age of onset, acute onset, polymorphous, and shifting symptomatology and a need for psychiatric hospitalization. The presence of precipitating stress factors and a prodromal phase with physiological symptoms was reported in all patients. Current diagnostic categories do not allow an unequivocal psychiatric diagnosis. © 2004 Wiley‐Liss, Inc.
Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (LACH) in two brothers: A novel syndrome?
Authors: Bonkowsky Joshua L. , Bohnsack John F. , Pennington Mary J. , Viskochil David , Thompson Joel A. 
Published: March 2004

AbstractWe report a pair of brothers who have leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia. Both presented initially with seizures in the early postnatal period. They have significant developmental delay, and brain MRIs demonstrate leukoencephalopathy, characterized by profound hypomyelination. They have developed arthritis, which in one brother has required chronic treatment; and persistent intermittent diarrhea, necessitating treatment for inflammatory bowel disease. Finally, they have had multiple hospitalizations, including several for sepsis; an immunological analysis revealed that they have IgG1‐subclass hypogammaglobulinemia and low B cell levels. There is no family history of similar problems, and these brothers have an unaffected brother. We believe this constellation of symptoms represents a novel syndrome: LACH syndrome (leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia). The etiology of this syndrome remains unknown despite extensive investigations. © 2004 Wiley‐Liss, Inc.
Unusual features in a patient with neurofibromatosis type 1: Multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney
Authors: Oktenli Cagatay , Gul Davut , Deveci M. Salih , Saglam Mutlu , Upadhyaya Meena , Thompson Peter , Consoli Claudia , Kocar Ismail H. , Pilarski Robert , Zhou Xiao‐Ping , Eng Charis 
Published: March 2004

AbstractWe report a case that draws attention to a hitherto undescribed association of neurofibromatosis type 1 (NF1) with juvenile polyp, congenital intrahepatic portosystemic venous shunt, multiple subcutaneous lipomas, and horseshoe kidney. Our patient has fulfilled the National Institutes of Health consensus conference criteria for NF1 by having neurofibromas, axillary freckling, Lisch nodules, and café‐au‐lait spots. There is no family history of NF1 and his 7‐year‐old son has no stigmata of NF1. On the other hand, the patient's family had a presumably dominant inheritance of horseshoe kidney: the father, proband, sister, and son of the other sister had a horseshoe kidney. The patient was investigated for mutations in the NF1 gene and PTEN, but no germline mutations were detected. The differential diagnosis for such a collection of hamartomatous, cutaneous, and vascular disorders includes the Proteus, Bannayan–Riley–Ruvalcaba, and Cowden syndromes. None of these diagnoses was convincingly confirmed in this patient. © 2004 Wiley‐Liss, Inc.
DNA studies of mono‐ and pseudodicentric isochromosomes 18q
Authors: Bugge Merete , Brandt Carsten A. , Petersen Michael B. 
Published: March 2004

AbstractThe description of isochromosomes 18 has so far mainly been by cytogenetic studies and based on identical banding pattern of the two arms. However, only molecular techniques are capable to distinguish an isochromosome from a translocation, whole arm or reciprocal, between two chromosomes 18. We have used 23 PCR‐based DNA polymorphisms to determine the parental origin and mechanisms of formation in four patients with isochromosomes 18q and to demonstrate that they were consistent with true isochromosomes. Three of the probands were liveborn children with clinical features characteristic of Edwards syndrome, one proband was a fetus diagnosed at prenatal diagnosis. In one case the isochromosome was monocentric with two identical q arms of maternal origin, formed by misdivision of the centromere and loss of p arm material. Another monocentric case had 47 chromosomes with isochromosomes i(18p) and i(18q) formed by maternal postzygotic centromeric misdivision and segregation of both isochromosomes, or by meiosis II centromeric misdivision and nondisjunction (without recombination in meiosis I). In two cases, the isochromosomes were dicentric with genetically identical arms composed of a part of the short and the whole long arm of chromosome 18 of paternal origin. The formation of the fused chromosomes can be explained by postzygotic exchange of sister chromatids on the short arm of chromosome 18, followed by breakage and U‐shape reunion of sister chromatids. © 2004 Wiley‐Liss, Inc.
Prostanoids, not reactive oxygen species, mediate COX‐2–dependent neurotoxicity
Authors: Manabe Yasuhiro , Anrather Josef , Kawano Takayuki , Niwa Kiyoshi , Zhou Ping , Ross M. Elizabeth , Iadecola Costantino 
Published: March 2004

AbstractThe prostaglandin synthesizing enzyme cyclooxygenase‐2 (COX‐2) has emerged as a critical pathogenic factor in brain diseases associated with activation of N‐methyl‐D‐aspartate (NMDA) receptors, including stroke and neurodegenerative diseases. However, the COX‐2 reaction products responsible for these deleterious effects have not been identified. In particular, the relative contribution to the neurotoxicity of COX‐2–derived prostanoids and reactive oxygen species has not been defined. We found that the brain damage produced by direct injection of NMDA into the somatosensory cortex is attenuated by the COX‐2 inhibitor NS‐398 or in COX‐2–null mice, but that the associated production of free radicals is not. Furthermore, COX‐2 inhibition reduces the lesions even if the deleterious effects of free radicals are eliminated by the scavenger superoxide dismutase. The protection exerted by NS‐398 is counteracted by a stable analog of prostaglandin E2. The findings directly implicate COX‐2–derived prostanoids, rather then radicals, in the COX‐2–dependent component of the damage mediated by NMDA receptors and strengthen the rationale for using COX‐2 inhibitors in the treatment of neurological diseases associated with glutamate neurotoxicity. Ann Neurol 2004
Analysis of failure of crosslinked polyethylene cables because of electrical treeing: A physicochemical approach
Authors: Sarathi R. , Das Supriyo , Anil Kumar C. R. , Velmurugan R. 
Published: March 2004

AbstractThe present work investigated the breakdown characteristics of high‐voltage crosslinked polyethylene (XLPE) cable by electrical trees under ac and composite voltages. The electrical trees resemble either a tree or a bushy structure. The importance of the Weibull parameters for the present study was emphasized. The failure zone of the XLPE cables was characterized by experimental techniques such as wide‐angle X‐ray diffraction, differential scanning calorimetry, and thermogravimetric–differential thermal analysis, to understand the phase constituents affected by electrical trees. The impact test and flexural test results indicate that material with high stiffness/toughness allows tree formation and causes early failure of the material. The characteristic variation of the aged XLPE cables was investigated by a dynamic mechanical analyzer (DMA). The activation energy values were calculated from the DMA data. The rate of tree propagation was found to be less for materials (XLPE) with high activation energy. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 2169–2178, 2004
Preparation and properties of elastic polyimide‐silica composites using silanol sol from water glass
Authors: Inoue Shin‐Ichi , Morita Kazuhisa , Asai Kiyotsugu , Okamoto Hiroshi 
Published: March 2004

AbstractA new approach for obtaining elastic polyimide‐silica composites using a silanol sol prepared from water glass and the imide‐containing elastic polymers (IEPs) with polytetramethyleneoxide (PTMO) soft‐segment was investigated. Methods of increasing the degree of compatibility between the silica phase prepared from a silanol sol and IEPs obtained via elastic polyureas were examined. Elastic polyimide‐silica composites were obtained by the thermal treatment at 200°C for 4 h in vacuo after N‐methyl‐2‐pyrrolidone was evaporated from the IEP precursor solutions to which the silanol tetrahydrofuran solution and Bis(trimethoxysilylpropyl)amine (BisA) were added. The use of BisA possessing a reaction site with a carboxylic acid group on the IEP precursors improved the degree of compatibility between the IEPs and silica. Transparent composites were obtained when the concentration of SiO2 was below 22 wt %. FT‐IR analyses confirmed that the composite was a segmented hybrid material composed of the PTMO segment, the imide segment, and SiO2. The silica matrix obtained via silanol sol from water glass and the silica matrix obtained by the conventional sol‐gel process with an alkoxysilane were essentially the same, and there was no significant loss of silicon due to incomplete hydrolysis of the alkoxides when preparing composites via the water glass route, in contrast to the situation that can occur in the case of the sol‐gel route. Dynamic mechanical and thermal analyses suggested that microphase separation between the imide segment and the PTMO segment occurred in the composites and that there was a substantial amount of phase mixing at the same time. The formation of the silica composite had a great influence on the mobility of the segmnets in the phase‐mixing domain. TGA analyses indicated that the formation of the 10 wt % silica hybrid gave a composite with a 50°C higher degradation temperature. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 2211–2219, 2004
Spatiotemporal analysis of programmed cell death during mouse cardiac septation
Authors: Sharma Pundrique R. , Anderson Robert H. , Copp Andrew J. , Henderson Deborah J. 
Published: March 2004

AbstractCell death is thought to play an important role in mammalian cardiogenesis, although a precise map of its distribution during the crucial period of cardiac septation has so far been lacking. In this study, the spatiotemporal distribution of programmed cell death (PCD) during mouse cardiac septation is described between embryonic days 10.5 and 13.5. Two types of foci of cell death can be demonstrated in the developing heart. Those with high‐intensity, with a PCD index greater than 1%, are clearly visible on individual TUNEL‐assayed sections. Low‐intensity foci, with a PCD index of less than 1%, become visible only following summation of data. High‐intensity foci occur exclusively within the endocardial cushions of the outflow tract and atrioventricular region, appearing at the 52–54 somite stage (late E11.5), concomitant with the formation of the central mesenchymal mass. Low‐intensity foci are present throughout the period of cardiac development from E10.5 to E13.5 and are frequently localized to regions of septation, such as the muscular ventricular septum and the mesenchymal cap of the primary atrial septum. Expression of Fas and FasL corresponds to these low‐intensity foci, but not those with high‐intensity, suggesting that activation of this death receptor may be specifically involved in molecular control of the low‐intensity foci. Anat Rec Part A 277A:355–369, 2004. © 2004 Wiley‐Liss, Inc.
Occurence of lipid bodies in canine type II pneumocytes during hypothermic lung ischemia
Authors: Ochs Matthias , Fehrenbach Heinz , Richter Joachim 
Published: March 2004

AbstractType II pneumocytes defend the pulmonary alveolus by synthesis and secretion of surfactant and by contributing to alveolar epithelial regeneration. Lipid bodies are regarded as intracellular domains for the synthesis of eicosanoid mediators that can be induced by inflammatory stimuli. The aim of the present study was to establish whether hypothermic ischemic lung storage without further preservation measures leads to an induction of lipid body formation in canine type II pneumocytes. The lungs of 18 dogs were fixed for transmission electron microscopy (TEM) immediately after cardiac arrest (six double lungs) and after ischemic storage in Tutofusin solution at 4°C for 20 min, 4 hr, 8 hr, and 12 hr (six single lungs, respectively). Type II pneumocytes were analyzed qualitatively by conventional TEM (CTEM) and quantitatively by stereology. The relative phosphorus content of surfactant containing lamellar bodies, lipid bodies, and intermediate forms was investigated by energy‐filtering TEM (EFTEM). By CTEM, lipid bodies as well as forms intermediate between lipid bodies and lamellar bodies were already noted in the control group but were more pronounced in the ischemia groups. Beginning at 20 min of ischemic storage, a significant increase in the volume density of lipid bodies was noted in the ischemic groups as compared to the control group. By EFTEM, the highest intracellular phosphorus signals were recorded over lamellar bodies and lamellar areas of intermediate forms in all experimental groups, while lipid bodies and homogeneous areas of intermediate forms did not show a clear phosphorus signal. These results indicate that the formation of lipid bodies in canine type II pneumocytes is induced early during ischemic lung storage. Anat Rec Part A 277A:287–297, 2004. © 2004 Wiley‐Liss, Inc.
Immunohistochemical distribution of growth‐associated protein 43 (GAP‐43) in developing rat nasoincisor papilla
Authors: El‐Sharaby Ashraf , Ueda Katsura , Wakisaka Satoshi 
Published: March 2004

AbstractWe employed immunohistochemistry of growth‐associated protein 43 (GAP‐43) to trace the early development of gustatory nerves and α‐gustducin to demonstrate mature taste buds in the rat nasoincisor papilla (NP). The sequential changes of gustatory structures revealed eight characteristic stages. One, at embryonic day 16 (E16), GAP‐43‐immunoreactive (IR) nerve fibers were observed in close relation with presumptive taste buds in the lateral apical epithelium on each side of NP; meanwhile, no immunoreactivity could be observed in the papillary epithelium. Two, at E17, fine GAP‐43‐IR nerve fibers first invaded the apical epithelium of the papilla. Three, at E19, GAP‐43‐IR nerve fibers were extensive in apical epithelium and colonized in immature taste buds. Four, at E20, GAP‐43‐IR nerve fibers were first observed in ductal epithelium (lining the medial wall of nasoincisor ducts). Five, at postnatal day 1 (P1), immunoreactive nerve fibers first coincided with immature taste buds in the ductal epithelium. Six, at P3, α‐gustducin‐IR cells identical for mature taste buds were simultaneously demonstrated in both apical and ductal epithelium. Seven, at P14, progressive taste bud proliferation and maturation as well as neural invasion were demonstrated in all regions of the epithelium. Eight, during advanced stage in adult animals, extensive innervation was traced especially in close relation with taste buds. The sequential topographic patterns of NP gustatory structures seem very specific as compared to those in other locations of mammalian gustatory system. The present study reveals that gustatory nerves preceded the development of taste buds. However, further investigations are required to examine such a characteristic model for the neurogenic theory of taste induction. Anat Rec Part A 277A:370–383, 2004. © 2004 Wiley‐Liss, Inc.
Morphometric analysis of embryonic rat trigeminal neurons treated with different neurotrophins
Authors: Ulupinar Emel , Ünal Nedim , Erzurumlu Reha S. 
Published: March 2004

AbstractIn whole‐mount explant cultures of the trigeminal ganglion (TG) with intact peripheral and brainstem targets, exogenous application of nerve growth factor (NGF) and neurotrophin‐3 (NT‐3) leads to elongation and precocious arborization of embryonic trigeminal axons, respectively. In addition, neurotrophins play a major role in survival and differentiation of distinct classes of TG neurons. In the present study, we conducted morphometric analyses of trigeminal neurons exposed to exogenous NGF or NT‐3 in whole‐mount explant cultures. Explants dissected from embryonic day (E) 13 and E15 rats were cultured in the presence of serum‐free medium (SFM) or in SFM supplemented with NGF or NT‐3 for 3 days. TG neurons were then retrogradely labeled with lipophilic tracer DiI and their soma size distributions were compared following different treatments. The mean diameters of E13 and E15 trigeminal neurons grown in the presence of NT‐3 were similar to those grown in SFM. On the other hand, in cultures supplemented with NGF, the mean diameters of neurons were larger at E13, but smaller at E15. Double immunolabeling with TrkA and TrkC antibodies confirmed the presence of large‐diameter TrkA‐positive neurons in E13 TG, but not in E15 TG. At both ages, other large‐diameter neurons expressed only TrkC. These results show that exposure to NGF leads to phenotypic changes in TrkA‐expressing trigeminal neurons at early embryonic development, but selective survival of small diameter neurons at later ages. Anat Rec Part A 277A:396–407, 2004. © 2004 Wiley‐Liss, Inc.
Functional neural anatomy of talent
Authors: Kalbfleisch M. Layne 
Published: March 2004

AbstractThe terms gifted, talented, and intelligent all have meanings that suggest an individual's highly proficient or exceptional performance in one or more specific areas of strength. Other than Spearman's g, which theorizes about a general elevated level of potential or ability, more contemporary theories of intelligence are based on theoretical models that define ability or intelligence according to a priori categories of specific performance. Recent studies in cognitive neuroscience report on the neural basis of g from various perspectives such as the neural speed theory and the efficiency of prefrontal function. Exceptional talent is the result of interactions between goal‐directed behavior and nonvolitional perceptual processes in the brain that have yet to be fully characterized and understood by the fields of psychology and cognitive neuroscience. Some developmental studies report differences in region‐specific neural activation, recruitment patterns, and reaction times in subjects who are identified with high IQ scores according to traditional scales of assessment such as the WISC‐III or Stanford‐Binet. Although as cases of savants and prodigies illustrate, talent is not synonymous with high IQ. This review synthesizes information from the fields of psychometrics and gifted education, with findings from the neurosciences on the neural basis of intelligence, creativity, profiles of expert performers, cognitive function, and plasticity to suggest a paradigm for investigating talent as the maximal and productive use of either or both of one's high level of general intelligence or domain‐specific ability. Anat Rec (Part B: New Anat) 277B:21–36, 2004. © 2004 Wiley‐Liss, Inc.