bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Molecular Genetics of Schwannomatosis
Authors: Hulsebos Theo JM 
Published: March 2009

Abstract

Schwannomatosis is characterized by the development of multiple schwannomas, but without the involvement of vestibular schwannomas. Presence of the latter is the hallmark of neurofibromatosis type 2 (NF2). Recent studies in families with schwannomatosis have excluded the

NF2

gene on chromosome 22 as the germline‐transmissible schwannomatosis gene. However, this gene was found to be somatically inactivated in schwannomas of the patients. In 2007, the

INI1/SMARCB1

gene on chromosome 22 was identified as a strong candidate for the schwannomatosis‐predisposing gene. Subsequent studies have confirmed the involvement of this tumour suppressor gene in 40–50% of familial and about 10% of sporadic cases.

INI1/SMARCB1

had earlier been found to be implicated in the development of malignant rhabdoid tumours, which are aggressive tumours of early childhood. It remains to be explained how

INI1/SMARCB1

can be involved in the development of benign schwannomas and of malignant rhabdoid tumours as well.

Key concepts

Schwannomatosis is characterized by the development of multiple schwannomas but no vestibular schwannomas, which are diagnostic of neurofibromatosis type 2 (NF2).

INI1/SMARCB1

on chromosome 22 is a schwannomatosis‐predisposing gene. Constitutional mutations in this gene are found in 40–50% of familial cases and about 10% of sporadic cases.

INI1/SMARCB1

is a tumour suppressor gene of which the second wild‐type copy is found to be inactivated in the schwannomas of these patients.

Inactivating mutations in the

NF2

gene are also found in the schwannomas of schwannomatosis patients, but these are only somatically acquired.

The INI1/SMARCB1 protein is a core subunit of the SWI/SNF complex. The SWI/SNF complex is involved in chromatin‐remodelling and in cancer development.

INI1/SMARCB1

is also implicated in the development of malignant rhabdoid tumours, which are aggressive tumours of early childhood. Patients with rhabdoid tumour predisposition syndrome (RTPS) carry a constitutionally mutated

INI1/SMARCB1

gene and may develop more than one rhabdoid tumour.

It remains to be clarified how

INI1/SMARCB1

can be involved in the development of two tumour types, schwannomas and rhabdoid tumours, with very different histologies and malignancy grades.
Smith–Magenis Syndrome
Authors: Elsea Sarah H , Finucane Brenda 
Published: March 2009

AbstractSmith–Magenis syndrome (SMS) is a complex neurobehavioural disorder caused by haploinsufficiency of theRAI1gene on chromosome 17p11.2. Key clinical features include intellectual disability, self‐injurious behaviours, sleep disturbance and craniofacial and skeletal anomalies. Diagnostic strategies are focused towards identification of a 17p11.2 microdeletion encompassingRAI1or a mutation ofRAI1. G‐banding and fluorescentin situhybridization are classical methods used to detect the SMS deletions, whereas multiplex ligation‐dependent probe amplification, comparative genomic hybridization and real‐time quantitative PCR (polymerase chain reaction) are the newer technologies. Most SMS features are due toRAI1haploinsufficiency, whereas variability and severity are modified by other genes in the 17p11.2 region. The functional role forRAI1is not completely understood, but it is likely involved in transcription and functions in several different biological pathways. Management of SMS is a multidisciplinary approach and involves treatment for sleep disturbance, speech and occupational therapies, minor medical interventions and management of behaviours.Synonyms: SMS, del(17)(p11.2), del(17)(p11.2p11.2),RAI1mutationKey conceptsSmith–Magenis syndrome (SMS) is a multiple congenital anomalies disorder caused by an interstitial deletion of chromosome 17p11.2 containing theretinoic acid induced 1(RAI1) gene or by mutation ofRAI1.Typically a sporadic genomic disorder with an estimated prevalence of 1:15 000–25 000.Individuals with SMS have intellectual disability, distinctive behavioural features, craniofacial and skeletal anomalies, speech and developmental delay and sleep disturbance.Hypotonia, hearing loss and chronic ear infections, eye abnormalities, cardiac and renal defects, and occasionally, cleft lip and/or palates are also observed.Approximately 90% of SMS cases have a FISH detectable 17p11.2 microdeletion (ranging from 650 kb to 9 Mb), whereas the remaining 10% have a mutation inRAI1.Haploinsufficiency ofRAI1results in most features of SMS, but variabliity and severity are modified by other genes in the 17p11.2 deletion region.RAI1 is a putative transcription factor functioning in multiple biological pathways resulting in the pleiotropic effects seen in SMS.Management includes therapy for sleep disturbance, early childhood intervention programmes, special education and vocational training, and multidisciplinary evaluation for behavioural and systemic manifestations.Recurrence risk for sibs of the proband, if the parental chromosome/gene analyses are normal, is less than 1%. Risk increases if a parent of the proband carries a balanced chromosomal rearrangement or if mosaicism for either a deletion orRAI1mutation is present in either parent. Mosaicism in a parent of an affected child is estimated at 3–5%.
Delay‐dependent non‐synchronized robust ℋ∞state estimation for discrete‐time piecewise linear delay systems
Authors: Qiu Jianbin , Feng Gang , Yang Jie 
Published: March 2009

AbstractThis paper investigates the problem of delay‐dependent robust ℋ∞filtering design for a class of uncertain discrete‐time piecewise linear state‐delayed systems where state space instead of measurable output space partitions are assumed so that filter implementation may not be synchronized with plant state trajectory transitions. The state delay is assumed to be time‐varying and of an interval‐like type. The uncertainties are assumed to have a structured linear fractional form. The objective is to design a piecewise linear state estimator guaranteeing the asymptotic stability of the resulting filtering error system with robust ℋ∞performance γ. Based on a new delay‐dependent piecewise Lyapunov‐Krasovskii functional combined with Finsler's Lemma, a novel delay‐dependent robust ℋ∞performance analysis result is first presented and the filter synthesis is then developed. It is shown that the filter gains can be obtained by solving a set of linear matrix inequalities, which are numerically efficient with commercially available software. Finally, a numerical example is provided to illustrate the effectiveness and less conservatism of the proposed approach. Copyright © 2009 John Wiley & Sons, Ltd.
Robust detection of a weak signal with redescending M‐estimators: A comparative study
Authors: Shevlyakov Georgy , Lee Jae Won , Lee Kyung Min , Shin Vladimir , Kim Kiseon 
Published: March 2009

AbstractOn finite samples redescending M‐estimators outperform linear bounded Huber's M‐estimators. To provide stable detection of a weak signal of arbitrary shape, robust Neyman–Pearson detection rules based on redescending M‐estimators of location are introduced and studied. It is shown that, on the whole, robust detectors based on redescending M‐estimators outperform conventional Huber's linear bounded detectors rules under light‐ and heavy‐tailed noise distributions both on large and small samples. Copyright © 2009 John Wiley & Sons, Ltd.
Open‐ and closed‐loop algebraic identification method for adaptive control of DC motors
Authors: Mamani G. , Becedas J. , Feliu‐Batlle V. , Sira‐Ramírez H. 
Published: March 2009

AbstractIn this article an adaptive position control scheme for a DC motor based on an on‐line closed‐loop continuous‐time identification method is proposed. A fast, non‐asymptotic, algebraic identification method is used to estimate the unknown system parameters and to update the controller. The method is suitable for simultaneously identifying both the viscous friction coefficient and the inertia of the motor. The adaptive controller and the identification algorithm have been verified by simulation and experiments. Copyright © 2009 John Wiley & Sons, Ltd.
Accurate numerical prediction of acoustic wave propagation
Authors: Tsuru Hideo , Iwatsu Reima 
Published: March 2009

AbstractIn the marine engineering field, a sound wave is often utilized to visualize objects. In such a sensing method, an accurate numerical prediction of sound propagation is an important issue for theoretical considerations. Recently, a finite difference method in time domain (FDTD) is often applied to wave propagation. However, an existing FDTD sometimes fails to match the accuracy to be required. In the present paper, strategies to improve conventional methods are presented: the application of the compact finite difference on staggered grid with adjusted coefficients and the usage of optimized multistep time integration. It is shown that through these tactics, a highly accurate simulation is attainable. Copyright © 2009 John Wiley & Sons, Ltd.
An Optically Active Polythiophene Exhibiting Electrochemically Driven Light‐Interference Modulation
Authors: Goto Hiromasa 
Published: March 2009

AbstractOptically active polythiophene (PT*) is successfully prepared by electrochemical polymerization using a cholesteric liquid crystal (CLC) electrolyte solution. Polarizing optical microscopy observations of the polymer reveal a well‐resolved fingerprint texture similar to the optical texture of the CLC. Circular dichroism measurements indicate a Cotton effect. The PT* film produced by the asymmetric polymerization in CLC exhibits a variable diffraction function, electrochemically driven refractive index modulation, and electrochromism originating from the periodic dielectric structure, representing a form of structural electrochromism.
Magnetic‐Field Effects in Organic Semiconducting Materials and Devices
Authors: Hu Bin , Yan Liang , Shao Ming 
Published: March 2009

AbstractIt has been experimentally discovered that a low magnetic field (less than 500 mT) can substantially change the electroluminescence, photoluminescence, photocurrent, and electrical‐injection current in nonmagnetic organic semiconducting materials, leading to magnetic‐field effects (MFEs). Recently, there has been significant driving force in understanding the fundamental mechanisms of magnetic responses from nonmagnetic organic materials because of two potential impacts. First, MFEs can be powerful experimental tools in revealing and elucidating useful and non‐useful excited processes occurring in organic electronic, optical, and optoelectronic devices. Second, MFEs can lead to the development of new multifunctional organic devices with integrated electronic, optical, and magnetic properties for energy conversion, optical communication, and sensing technologies. This progress report discusses magnetically sensitive excited states and charge‐transport processes involved in MFEs. The discussions focus on both fundamental theories and tuning mechanisms of MFEs in nonmagnetic organic semiconducting materials.
Radical Polymers for Organic Electronic Devices: A Radical Departure from Conjugated Polymers?
Authors: Oyaizu Kenichi , Nishide Hiroyuki 
Published: March 2009

AbstractRadical polymers are aliphatic or nonconjugated polymers bearing organic robust radicals as pendant groups per repeating unit. A large population of the radical redox sites allows the efficient redox gradient‐driven electron transport through the polymer layer by outer‐sphere self‐exchange reactions in electrolyte solutions. The radical polymers are emerging as a new class of electroactive materials useful for various kinds of wet‐type energy storage, transport, and conversion devices. Electric‐field‐driven charge transport by hopping between the densely populated radical sites is also a remarkable aspect of the radical polymers in the solid state, which leads to many dry‐type devices such as organic memories, diodes, and switches.
Childhood, adolescence, and longevity: A multilevel model of the evolution of reserve capacity in human life history
Authors: Bogin Barry 
Published: March 2009

AbstractThe grandmother hypothesis (GH) of Hawkes et al. ([1998]: Proc Natl Acad Sci USA 95: 1336–1339) finds that selection for lower adult mortality and greater longevity allow for the evolution of prolonged growth in human beings. In contrast, other researchers propose that the evolution of the human childhood and adolescent stages of life history prolonged the growth period and allowed for greater biological resilience and longevity compared with apes. In this article, the GH model is reanalyzed using new values for some of its key variables. The original GH set the age at human feeding independence at 2.8 years of age (weaning) and used demographic data from living foragers to estimate average adult lifespan after first birth at 32.9 years. The reanalysis of the GH uses age 7.0 years (end of the childhood stage) as the minimum for human feeding independence and uses data from healthier populations, rather than foragers, to derive an estimate of 48.9 years for average adult life span. Doing so finds that selection operated to first shorten the infancy stage (wean early compared with apes), then prolong the growth period, and finally result in greater longevity. The reanalysis provides a test of the reserve capacity hypothesis as part of a multilevel model of human life history evolution. Am. J. Hum. Biol. 2009. © 2009 Wiley‐Liss, Inc.
Activation of metabotropic glutamate receptor 5 improves recovery after spinal cord injury in rodents
Authors: Byrnes Kimberly R. , Stoica Bogdan , Riccio Angela , Pajoohesh‐Ganji Ahdeah , Loane David J. , Faden Alan I. 
Published: March 2009

AbstractObjectiveActivation of metabotropic glutamate receptor 5 (mGluR5) has neuroprotective properties in vitro and has been reported to limit postischemic lesion volume in vivo. Previously, mGluR5 has been identified on microglia in vitro, but the effects of mGluR5 activation on inflammation in vivo or on recovery after spinal cord injury is unknown.MethodsRats received intrathecal infusion of the selective mGluR5 agonist (RS)‐2‐chloro‐5‐hydroxyphenylglycine (CHPG) for 7 days after moderate impact spinal cord injury at T9. Complementary studies examined CHPG effects on activated spinal microglia cultures.ResultsFunctional motor recovery was significantly increased by CHPG treatment up to 28 days after injury, with improvements in weight bearing, step taking, and coordination of stepping behavior. CHPG treatment significantly reduced lesion volume and increased white matter sparing at 28 days after injury. Administration of CHPG attenuated microglial‐associated inflammatory responses in a dose‐dependent fashion, including expression of ED1, Iba‐1, Galectin‐3, NADPH oxidase components, tumor necrosis factor‐α, and inducible nitric oxide synthase. Because mGluR5 is expressed by microglial cells in the rat spinal cord, such effects may be mediated by direct action on microglial cells. mGluR5 stimulation also reduced microglial activation and decreased microglial‐induced neurotoxicity in spinal cord microglia cultures; the latter effects were blocked by the selective mGluR5 antagonist MTEP.InterpretationThese data demonstrate that mGluR5 activation can reduce microglial‐associated inflammation, suggesting that the protective effects of mGluR5 agonists may reflect this action. Ann Neurol 2009;66:63–74
Postischemic treatment of neonatal cerebral ischemia should target autophagy
Authors: Puyal Julien , Vaslin Anne , Mottier Vincent , Clarke Peter G.H. 
Published: March 2009

AbstractObjectiveTo evaluate the contributions of autophagic, necrotic, and apoptotic cell death mechanisms after neonatal cerebral ischemia and hence define the most appropriate neuroprotective approach for postischemic therapy.MethodsRats were exposed to transient focal cerebral ischemia on postnatal day 12. Some rats were treated by postischemic administration of pan‐caspase or autophagy inhibitors. The ischemic brain tissue was studied histologically, biochemically, and ultrastructurally for autophagic, apoptotic, and necrotic markers.ResultsLysosomal and autophagic activities were increased in neurons in the ischemic area from 6 to 24 hours postinjury, as shown by immunohistochemistry against lysosomal‐associated membrane protein 1 and cathepsin D, by acid phosphatase histochemistry, by increased expression of autophagosome‐specific LC3‐II and by punctate LC3 staining. Electron microscopy confirmed the presence of large autolysosomes and putative autophagosomes in neurons. The increases in lysosomal activity and autophagosome formation together demonstrate increased autophagy, which occurred mainly in the border of the lesion, suggesting its involvement in delayed cell death. We also provide evidence for necrosis near the center of the lesion and apoptotic‐like cell death in its border, but in nonautophagic cells. Postischemic intracerebroventricular injections of autophagy inhibitor 3‐methyladenine strongly reduced the lesion volume (by 46%) even when given >4 hours after the beginning of the ischemia, whereas pan‐caspase inhibitors, carbobenzoxy‐valyl‐alanyl‐aspartyl(OMe)‐fluoromethylketone and quinoline‐val‐asp(OMe)‐Ch2‐O‐phenoxy, provided no protection.InterpretationThe prominence of autophagic neuronal death in the ischemic penumbra and the neuroprotective efficacy of postischemic autophagy inhibition indicate that autophagy should be a primary target in the treatment of neonatal cerebral ischemia. Ann Neurol 2009
Dopamine D2receptor knockout mice develop features of Parkinson disease
Authors: Tinsley Rogan B. , Bye Chris R. , Parish Clare L. , Tziotis‐Vais Angela , George Sonia , Culvenor Janetta G. , Li Qiao‐Xin , Masters Colin L. , Finkelstein David I. , Horne Malcolm K. 
Published: March 2009

AbstractObjectiveThis study questions whether increased dopamine (DA) turnover in nigral neurons leads to formation of Lewy bodies (LBs), the characteristic α‐synuclein–containing cytoplasmic inclusion of Parkinson disease (PD).MethodsMice with targeted deletion of the dopamine D2receptor gene (D2R[−/−]) have higher striatal and nigral dopamine turnover and elevated oxidative stress. These mice were examined for evidence of histological, biochemical, and gene expression changes consistent with a synucleinopathy.ResultsLB‐like cytoplasmic inclusions containing α‐synuclein and ubiquitin were present in substantia nigra pars compacta (SNpc) neurons of older D2R(−/−) mice, and were also occasionally seen in aged wild‐type mice. These inclusions displaced the nucleus of affected cells and were eosinophilic. Diffuse cytosolic α‐synuclein immunoreactivity in SNpc neurons increased with age in both wild‐type and D2R(−/−) mice, most likely because of redistribution of α‐synuclein from striatal terminals to SNpc cell bodies. Gene and protein expression studies indicated endoplasmic reticulum (ER) stress and changes in trafficking and autophagic pathways in D2R(−/−) SNpc. These changes were accompanied by a loss of DA terminals in the dorsal striatum, although there was no evidence of progressive cell death in the SNpc.InterpretationIncreased sprouting and DA turnover, as observed in PD and D2R(−/−) mice, augments LB‐like inclusions and axonal degeneration of dopaminergic neurons. These changes are associated with ER stress and autophagy. Ann Neurol 2009;66:472–484
Reformer and membrane modules plant to optimize natural gas conversion to hydrogen
Authors: De Falco M. , Barba D. , Cosenza S. , Iaquaniello G. , Farace A. , Giacobbe F. G. 
Published: March 2009

AbstractMembrane technology may play a crucial role in the efficient production of hydrogen from natural gas and heavy hydrocarbons. The present work assesses the performance of a hydrogen production plant utilizing by reformer and membrane modules (RMM), by which the hydrogen produced in reaction units is separated by Pd‐based membranes. A major advantage of RMM architecture is the shift of chemical equilibria favoring hydrogen production due to the removal of hydrogen through membranes at each reaction step, thus improving hydrogen yield while simultaneously allowing methane conversion at temperatures below 650 °C. Lower operating temperatures allow location of the modules downstream of a gas turbine, achieving an efficient hybrid system producing electric power and hydrogen with a significant reduction in energy consumption of approximately 10% relative to conventional systems.Fundamental concepts are analyzed and integrated into a process scheme. Effects of variables including reactor temperature outlet, steam‐to‐carbon ratio and recycle ratio throughout pinch and sensitivity analysis are described. Copyright © 2009 Curtin University of Technology and John Wiley & Sons, Ltd.
Growth and reproduction of threatened native crucian carp Carassius carassius in small ponds of Epping Forest, south‐east England
Authors: Tarkan Ali Serhan , Copp Gordon H. , Zięba Grzegorz , Godard Michael J. , Cucherousset Julien 
Published: March 2009

Abstract
The crucian carp Carassius carassius is a species of cyprinid fish native to south‐east England, but few studies exist on its growth and reproduction in England, and the species is threatened by introductions of its Asiatic congener, goldfish Carassius auratus. To increase knowledge of the crucian carp as a means of aiding its conservation, the present study assesses the growth (back‐calculated length at age, body condition) and reproduction (fecundity, egg size, length and age at maturity) of crucian carp in small ponds of Epping Forest (north‐east London, England).
Evaluation of growth and reproduction data with published data for populations from northern Europe (i.e. latitude ⩾50°) suggest that growth is very variable, even within the same area, and that data on reproductive indices, in particular length and age at maturity, are scarce. In England, the length at age trajectory of crucian carp living in sympatry with feral goldfish Carassius auratus did not differ significantly from allopatric crucian carp populations, but crucian carp body condition and relative fecundity (eggs per body weight) were highest, and mean age and standard length at maturity were lowest in sympatry with goldfish.
These data suggest that somatic growth and reproductive output may be maximized in crucian carp when confronted by coexistence with feral goldfish. However, the potential impact of goldfish introductions on crucian carp growth and reproduction requires further study, involving a much larger number of crucian carp populations, both in allopatry and sympatry with feral goldfish populations.
© Crown copyright 2009. Reproduced with the permission of Her Majesty's stationery Office. Published by John Wiley & Sons, Ltd.