bluuebunny/crossref_metadata_2025 huggingface dataset:
A SYNTHETIC CONTROL CHART FOR MONITORING THE PROCESS MEAN OF SKEWED POPULATIONS BASED ON THE WEIGHTED VARIANCE METHOD
Authors: KHOO MICHAEL B. C. , WU ZHANG , ATTA ABDU M. A.
Published: September 2008

A synthetic control chart for detecting shifts in the process mean integrates the Shewhart [Formula: see text] chart and the conforming run length chart. It is known to outperform the Shewhart [Formula: see text] chart for all magnitudes of shifts and is also superior to the exponentially weighted moving average chart and the joint [Formula: see text]-exponentially weighted moving average charts for shifts of greater than 0.8σ in the mean. A synthetic chart for the mean assumes that the underlying process follows a normal distribution. In many real situations, the normality assumption may not hold. This paper proposes a synthetic control chart to monitor the process mean of skewed populations. The proposed synthetic chart uses a method based on a weighted variance approach of setting up the control limits of the [Formula: see text] sub-chart for skewed populations when process parameters are known and unknown. For symmetric populations, however, the limits of the new [Formula: see text] sub-chart are equivalent to that of the existing [Formula: see text] sub-chart which assumes a normal underlying distribution. The proposed synthetic chart based on the weighted variance method is compared by Monte Carlo simulation with many existing control charts for skewed populations when the underlying populations are Weibull, lognormal, gamma and normal and it is generally shown to give the most favourable results in terms of false alarm and mean shift detection rates.
EXTREMAL CAYLEY GRAPHS OF FINITE CYCLIC GROUPS
Authors: LEE JOSEPH J. , SHEU ELYSIA J. , JIA XINGDE
Published: September 2008

Let Γ be a finite group with a nonempty subset A. The Cayley graph Cay (Γ, A) of Γ generated by A is defined as the digraph with vertex set Γ and edge set {(x,y) | x-1 y ∈ A}. Cay (Γ, A) can be regarded as an undirected graph if x-1 ∈ A for all x ∈ A. Let [Formula: see text] denote the largest integer M so that there exists a set of integers A = {±1, ±a2;…, ±ak} such that the average distance between all pairs of vertices of Cay (ℤM,A) is at most r, where ℤM is the additive group of residue classes modulo M. It is proved in this paper that [Formula: see text] It is also proved that [Formula: see text]
CONDITIONAL DIAGNOSABILITY OF CAYLEY GRAPHS GENERATED BY TRANSPOSITION TREES UNDER THE COMPARISON DIAGNOSIS MODEL
Authors: LIN CHENG-KUAN , TAN JIMMY J. M. , HSU LIH-HSING , CHENG EDDIE , LIPTÁK LÁSZLÓ
Published: September 2008

The diagnosis of faulty processors plays an important role in multiprocessor systems for reliable computing, and the diagnosability of many well-known networks has been explored. Zheng et al. showed that the diagnosability of the n-dimensional star graph Sn is n - 1. Lai et al. introduced a restricted diagnosability of multiprocessor systems called conditional diagnosability. They consider the situation when no faulty set can contain all the neighbors of any vertex in the system. In this paper, we study the conditional diagnosability of Cayley graphs generated by transposition trees (which include the star graphs) under the comparison model, and show that it is 3n - 8 for n ≥ 4, except for the n-dimensional star graph, for which it is 3n - 7. Hence the conditional diagnosability of these graphs is about three times larger than their classical diagnosability.
CONNECTIVITY OF GENERALIZED HIERARCHICAL COMPLETELY-CONNECTED NETWORKS
Authors: TAKABATAKE TOSHINORI , NAKAMIGAWA TOMOKI , ITO HIDEO
Published: September 2008

As a network topology for a massively parallel computer system, Generalized Hierarchical Completely-Connected Networks (for short, HCC), which include conventional hierarchical networks, have been proposed. To apply the HCC to a parallel computer system effectively and to execute data processings on the HCC efficiently, the inherent fault-tolerant properties in HCC must be revealed. However, these properties have not been clarified enough. In this paper, node-connectivity is verified for HCC. Furthermore, the concept of block-connectivity related to node-connectivity of HCC is introduced, and fault-tolerance of HCC is discussed.
COST-PERFORMANCE ANALYSIS OF SERVICE-ADDRESS-ROUTED LEAST-COMMON-ANCESTOR NETWORKS
Authors: VALENCIA DANIEL S. , SCHERSON ISAAC D.
Published: September 2008

A novel Interconnection Network Architecture is proposed for integrating tightly coupled Distributed Systems. It allows the implementation of Service Address Routing(SAR): network communications between components are based on the "name" of requested services. It is a client-server communications model, and optionally includes the traditional physical addressing schemes. This enhanced network architecture registers the capabilities of the components attached to its ports and directs service requests to appropriate server nodes. The Network can perform Resource Allocation by placing services in nodes that can support them. Load Distribution is achieved by binding requests to adequate servers with enough free resources. Furthermore, SAR effects a simple, yet efficient and transparent resource discovery mechanism by means of a distributed content-addressable search at each network port. A scalable implementation for computer clusters is proposed which uses the Least-Common-Ancestor Networks (LCANs) as the model for the hierarchical interconnect. At the end of this work, an analysis based on theoretical examination and experimental testing is carried out; scalability and cost-effectiveness of the proposed Service-Address-Routed Least-Common-Ancestor Networks are thus examined.
ACTIN-BINDING PROTEINS: HOW TO REVEAL THE CONFORMATIONAL CHANGES
Authors: SINITSINA NATALIA , ORSHANSKY IGOR , SOKOLOVA OLGA
Published: September 2008

Actin is the most abundant protein in eukaryotes. Under physiological conditions, it can polymerize into polarized filaments. At the heart of these processes are actin-binding proteins that stimulate actin assembly. Most of them are composed of multiple domains that perform both regulatory and signaling functions. Many actin-binding proteins, including WASP and formin family proteins, are auto-inhibited through intramolecular interactions that mask the actin-regulating sites of these proteins. The large flexible molecules of formins have so far eluded crystallization, and have been crystallized only partially. The information from the available crystal structures is valuable, but somewhat difficult to interpret without a larger framework on which to pose the actin-binding mechanism. Single-particle electron microscopy and electron tomography could provide such a large framework with the full-length structures of protein complexes. The recent advances in determining the molecular interactions in protein complexes predict that the molecular modeling and molecular dynamics methods could be employed to study conformational changes in molecules.
A NOVEL ATTACK STRATEGY ON ENTANGLEMENT SWAPPING QKD PROTOCOLS
Authors: SCHAUER STEFAN , SUDA MARTIN
Published: September 2008

Li et al. presented a protocol [International Journal of Quantum Information4(6) (2006) 899–906] for quantum key distribution based on entanglement swapping. In this protocol, they use random and certain bits to construct a classical key, and they claim that this key is secure. In our article, we show that the protocol by Li et al. is insecure, presenting a new type of attack strategy which gives an adversary full information about the key without being detected. This strategy is based on entanglement swapping, too, and manages to preserve the correlation between the measurement results of the legitimate parties. Further, we present a modified version of the protocol and show that it is secure against this new attack strategy.
SCHEME FOR TELECLONING AN IONIC STATE WITHOUT JOINT MEASUREMENT VIA LINEAR OPTICS
Authors: YAN FEI , YANG MING , CAO ZHUO-LIANG
Published: September 2008

We present a protocol for telecloning an ionic state to M distant users by using linear optical elements. The quantum channel used here is a (M + 1)-particle W state. The most distinct advantage of the current scheme is that it does not need a joint measurement required by the previous telecloning schemes.
SECOND QUANTIZED KOLMOGOROV COMPLEXITY
Authors: ROGERS CAROLINE , VEDRAL VLATKO , NAGARAJAN RAJAGOPAL
Published: September 2008

The Kolmogorov complexity of a string is the length of its shortest description. We define a second quantized Kolmogorov complexity where the length of a description is defined to be the average length of its superposition. We discuss this complexity's basic properties. We define the corresponding prefix complexity and show that the inequalities obeyed by this prefix complexity are also obeyed by von Neumann entropy.
VIOLATION OF CLASSICAL INEQUALITIES AND EPR CORRELATIONS IN A TWO-MODE THREE-LEVEL ATOMIC SYSTEM
Authors: SETE EYOB A.
Published: September 2008

We investigate violation of Cauchy–Schwarz and Bell inequalities in two-mode three-level cascade system with injected atomic coherence in the framework of quantum theory of multiwave mixing. We show that Cauchy–Schwarz inequality is strongly violated when there is strong entanglement in the system. It also appears that Bell inequality is violated in the region where there is weak entanglement and well-preserved where there is strong entanglement in the system. We thus note that there are states which are entangled but do not violate Bell inequality. We also show that this system can be used to prepare states that exhibit EPR correlations.
THERMAL ENTANGLEMENT IN A TWO-QUTRIT SYSTEM WITH NONLINEAR COUPLING UNDER NONUNIFORM EXTERNAL MAGNETIC FIELD
Authors: SARGOLZAHI IMAN , MIRAFZALI SAYYED YAHYA , SARBISHAEI MOHSEN
Published: September 2008

We study the thermal entanglement of a 2-qutrit spin chain with nonlinear coupling in the presence of nonuniform magnetic field. Thermal entanglement of an arbitrary (finite-dimensional) m-partite system vanishes at some finite threshold temperature Ts. We investigate the dependence of Ts on the system's parameters, i.e. the nonlinear coupling and the magnetic field, for this 2-qutrit system. In addition, we compare two lower bounds of I-concurrence for this system and also study its dense coding capacity as a function of system's parameters.
QUANTUM ALGORITHMS FOR OPTIMIZATION USING ASYMPTOTIC QUANTUM SEARCH
Authors: RAMOS RUBENS V. , SOUSA PAULO B. M.
Published: September 2008

Problems of optimization are very common in several areas like engineering, physics, economics and mathematics and usually, they are very difficult to solve. Basically, one has to find the minimum or maximum of an objective function. In this work, we chose two optimization problems and we present quantum algorithms to solve them. The problems are: (1) to find the best decomposition of a unitary operation achievable by a programmable quantum circuit; (2) to find the minimal distance of a linear code. The quantum algorithms used are asymptotic quantum search and their main property is the fact that only one measurement is required.
QUANTUM AUCTIONS USING ADIABATIC EVOLUTION: THE CORRUPT AUCTIONEER AND CIRCUIT IMPLEMENTATIONS
Authors: GUHA SAIKAT , HOGG TAD , FATTAL DAVID , SPILLER TIMOTHY , BEAUSOLEIL RAYMOND G.
Published: September 2008

We examine a proposed auction algorithm using quantum states to represent bids and distributed adiabatic search to find the winner.1 When the auctioneer follows the protocol, the final measurement giving the outcome of the auction also destroys the bid states, thereby preserving the privacy of losing bidders. We describe how a dishonest auctioneer could alter the protocol to violate this privacy guarantee, and present methods by which bidders can counter such attacks. We also suggest possible quantum circuit implementations of the auction protocol, and quantum circuits to perpetrate and to counter attacks by a dishonest auctioneer.
CONTROLLED QUANTUM SECURE DIRECT COMMUNICATION WITH W STATE
Authors: CHEN XIU-BO , WEN QIAO-YAN , GUO FEN-ZHUO , SUN YING , XU GANG , ZHU FU-CHEN
Published: September 2008

Utilizing W state, which is much more robust than GHZ state, we propose a protocol for three-party controlled quantum secure direct communication (QSDC). The feature of this protocol is that the sender encodes the secret message directly on a sequence of particle states and faithfully transmits them to an arbitrary one of two receivers without revealing any information to a potential eavesdropper. On the other hand, we construct the efficient quantum circuit to implement the QSDC by means of primitive operations in quantum computation.
ANALYSIS OF CORRELATION FUNCTION AND POLARIZATION ENTANGLEMENT OF PHOTON PAIRS GENERATED FROM ANISOTROPIC SEMICONDUCTOR QUANTUM DOT
Authors: LIU SHAO-DING , CHENG MU-TIAN , WANG XIA , WANG QU-QUAN
Published: September 2008

The dynamics of the population density matrix and polarization density matrix of the biexciton system of single semiconductor quantum dots with pulse excitation were analyzed by using master equations and quantum regression theorem. A model based on the spectral distributions of the cascade photon emissions was proposed to calculate the polarization entanglement of the photon pairs emitted from the non-degenerate biexciton system with spectral filters. The influences of the spectral filter width and the exciton energy splitting between the two orthogonally polarized eigenstates on the entanglement were theoretically analyzed. The dependence of the polarization entanglement on the input pulse area was also discussed.
Ring chromosomes in human neoplasias
Authors: Gebhart E.
Published: September 2008

Though reported from a wide variety of human neoplasias, ring chromosomes, in general, are a rare finding in these diseases. The majority were detected by chance when tumors were screened for chromosomal aberrations. In most cases they are a part of highly complex karyotypic alterations and therefore part of unfavourable prognostic factors. However, in some tumor entities (e.g. tumors of mesenchymal origin) they are of such high prevalence (up to 70% of these tumors) and of such extraordinary specificity that they can even serve as cytogenetic hallmarks for differential diagnosis and for prognostic purposes. The well-known technical problems in malignant cells of achieving high banding quality to define all single chromosomal alterations have severely hampered clear identification of the chromosomes involved in rings until recently. Substantial progress of ring identification could only be achieved when molecular cytogenetic techniques became available. By these techniques it could not only be shown that certain breakpoint regions nonrandomly contribute to ring rearrangements which – at least in certain malignancies – are of basic importance, but also the molecular consequences of these changes could be defined in some cases. The present review summarizes a great number of reports on a total of 760 ring chromosomes in human neoplasias at different sites, but includes only cases with clearly identified rings. In addition, the molecular consequences of ring formation are addressed wherever pertinent information has recently been presented in the literature.
Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema
Authors: Göβwein T. , Kocot A. , Emmert G. , Kreuz W. , Martinez-Saguer I. , Aygören-Pürsün E. , Rusicke E. , Bork K. , Oldenburg J. , Müller C.R.
Published: September 2008

Hereditary angioedema (HAE) is an autosomal dominant disease that manifests as intermittent acute swellings of the skin and mucosal surfaces, which, in the gastrointestinal tract and larynx, may even be fatal. HAE results from functional deficiency of the C1 inhibitor (C1INH) protein, which plays a key role in the classical pathway of complement activation. C1INH is the sole inhibitor of the activated proteases C1r and C1s, and is the major regulator of activated coagulation Factor XII and plasma kallikrein, which limits the generation of the vasoactive peptide bradykinin. In this paper, we report on the genetic analysis of 173 families (including 326 members) with a clinical diagnosis of HAE. Direct sequencing, Southern blotting and quantitative PCR by the MLPA method were used to screen for mutations in C1INH (SERPING1). In 142 families (82.1%), a causative C1INH gene mutation could be identified. A total of 80 novel point mutations of C1INH not published previously were detected in 96 pedigrees (including 172 members). Our results corroborate C1INH (SERPING1) deficiency as a disease of extreme allelic heterogeneity with almost each individual family carrying their own mutation. Routine molecular genetic analysis is an effective way of confirming the clinical diagnosis and identifying mutation carriers early on before any clinical manifestation becomes apparent. It is, therefore, a valuable tool in prevention and adequate treatment of acute and life-threatening oedema.
HOXD13 may play a role in idiopathic congenital clubfoot by regulating the expression of FHL1
Authors: Wang L.-L. , Fu W.-N. , Li-Ling J. , Li Z.-G. , Li L.-Y. , Sun K.-L.
Published: September 2008

Idiopathic congenital clubfoot (CCF) is a type of congenital foot malformation, and previous studiesusing the extended transmission disequilibrium testing (ETDT) analysis have confirmed the HOXD13 gene as the susceptible gene of CCF. This study aimed to verify whether Hoxd13 directly regulates skeletal muscle LIM protein 1 (Fhl1) expression during limb development in rat embryo, which will serve as a basis for comprehending etiological research of idiopathic CCF. Immunofluorescence staining was utilized to detect Hoxd13 and Fhl1 expression in 12.5d rat embryo, while luciferase assay, electrophoretic mobility shift assay (EMSA), and chromatin immunoprecipitation (ChIP) assay were used to confirm the interaction between the two genes. Both Hoxd13 and Fhl1 were expressed in the interdigital tissues of E12.5 rat embryo. Luciferase assay and EMSA identified a novel promoter region of Fhl1 that directly interacts with Hoxd13. ChIP of the Hoxd13-Fhl1 promoter complex from the developing limb confirmed that endogenous Hoxd13 interacts with this region. Thus, Hoxd13 directly regulates Fhl1 expression in rat embryo. These findings suggest that HOXD13 may regulate the expression of FHL1 in the development of idiopathic CCF.
Replication timing of two human common fragile sites: FRA1H and FRA2G
Authors: Pelliccia F. , Bosco N. , Curatolo A. , Rocchi A.
Published: September 2008

The mammalian chromosomes present specific sites of gaps or breaks, the common fragile sites (CFSs), when the cells are exposed to DNA replication stress or to some DNA binding compounds. CFSs span hundreds or thousands of kilobases. The analysis of these sequences has not definitively clarified the causes of their fragility. There is considerable evidence that CFSs are regions of late or slowed replication in the presence of sequence elements that have the propensity to form secondary structures, and that the cytogenetic expression of CFSs may be due to unreplicated DNA. In order to analyse the relationship between DNA replication time and fragility, in this work we have investigated the timing of replication of sequences mapping within two CFSs (FRA1H and FRA2G), of syntenic non-fragile sequences and of early and late replicating control sequences by using fluorescent in situ hybridization on interphase nuclei, conventional fluorescence microscopy and confocal microscopy. Our results indicate that the fragile sequences are slow replicating and that they enter G2 phase unreplicated with very high frequency. Thus these regions could sometimes reach mitosis unreplicated or undercondensed and be expressed as chromosome gaps/breakages.
Intracranial germ cell tumors: association with Klinefelter syndrome and sex chromosome aneuploidies
Authors: Queipo G. , Aguirre D. , Nieto K. , Peña Y.R. , Palma I. , Olvera J. , Chavez L. , Nájera N. , Kofman-Alfaro S.
Published: September 2008

Intracranial germ cell tumors (ICGCTs) occur mainly in male children and adolescents. Polyploidy of the X chromosome and X hypomethylation have been suggested as mechanisms of malignant transformation independently of the histological tumor type. On the other hand, several reports associate these tumors with Klinefelter’s syndrome (KS). Recent reports indicate that KS patients have an increased relative risk for development of malignant mediastinal germ cell tumors and also around 8% of male patients with primary mediastinal tumors have KS. In an attempt to explore the frequency of KS amongst patients with ICGCTs and to confirm the presence of X chromosome polyploidies in these tumors, we studied 13 young male patients with ICGCTs. Paraffin-embedded tumoral and normal tissues were studied by FISH. KS was found in 15% of the cases, demonstrating that this constitutive aneuploidy may be related to carcinogenesis. When tumor and non-tumor tissues were compared, statistically significant X and Y chromosome polyploidies in tumors were revealed. These results emphasize that aneuploidies are involved in ICGCT tumorigenesis.
Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormality
Authors: Surace C. , Digilio M.C. , Lombardo A. , Sirleto P. , Tomaiuolo A.C. , Roberti M.C. , Capolino R. , Angioni A.
Published: September 2008

Cytogenetic analyses of constitutional diseases have disclosed several chromosomal rearrangements. At the molecular level, these rearrangements often result in the breakage of genes or alteration of genome architecture. Fluorescence in situ hybridization (FISH) and molecular investigations of a patient showing hypotonia and dysmorphic traits revealed a masked complex chromosome abnormality previously detected by G-banding as a simple 8qter deletion. To characterize the genetic rearrangements panels of bacterial artificial chromosomes (BACs) covering 8q24.22→qter were constructed, and short tandem repeats (STRs) were used to refine the localization of the breakpoints and to assess the parental origin of the defect. Chromosome 8 displayed the breakpoint at 8q24.22 and an unexpected distal breakpoint at 8q24.23 resulting in unbalanced translocation of a small 8q genomic region on the chromosome 16qter. The study of the 16qter region revealed that the 16q subtelomere was retained and the translocated material of distal 8q was juxtaposed. Moreover, molecular analyses showed that part of the translocated 8qter segment on der(16) was partially duplicated, inverted and that the rearrangement arose in the paternal meiosis. These findings emphasize the complexity of some only apparently simple chromosomal rearrangements and suggest a subtelomeric FISH approach to enhance diagnostic care when a cytogenetic terminal deletion is found.
Comparative cytogenetics of moles (Eulipotyphla, Talpidae): chromosomal differences in Talpa romana and T. europaea
Authors: Gornung E. , Volleth M. , Capanna E. , Castiglia R.
Published: September 2008

The genus Talpa is the most specious and widespread one in the family Talpidae. The existing karyological records are predominantly basic morphological descriptions. To further investigate the case in point, we performed a comparative cytogenetic study in the genus by comparing G- and C-chromosome banding and NOR patterns of the two European species, T. romana and T. europaea, along with available data regarding several other mole species. Chromosomal hybridization patterns for telomeric repeats and major and 5S ribosomal RNA genes were obtained in T. romana and T. europaea for the first time. The comparison of these patterns revealed differences in distribution of interstitial telomeric repeats and 5S ribosomal RNA genes in the two species with apparently identical karyotypes but different evolutionary histories.
Differences in ribosomal DNA distribution on A and B chromosomes between eastern and western populations of the grasshopper Eyprepocnemis plorans plorans
Authors: López-León M.D. , Cabrero J. , Dzyubenko V.V. , Bugrov A.G. , Karamysheva T.V. , Rubtsov N.B. , Camacho J.P.M.
Published: September 2008

Distribution of ribosomal DNA (rDNA) on standard (A) and supernumerary (B) chromosomes of the grasshopper Eyprepocnemis plorans was analysed in specimens collected in Turkey and Armenia, belonging to the E. p. plorans subspecies, and in South Africa, belonging to the E. p. meridionalis subspecies. The latter individuals showed rDNA loci in chromosomes 9 and 11 only, whereas those from Armenia carried it in chromosomes 9 and 11 or else in chromosomes 9–11, depending on the population. The specimens from Turkey carried it in chromosomes 1, 9–11 and X. A comparison of this pattern with those previously observed in populations from Spain, Morocco, and Greece (belonging to E. p. plorans) suggests the existence of two evolutionary patterns in rDNA chromosome location in A chromosomes of this subspecies: eastern populations showing rDNA restricted to the small (9–11) chromosomes (as in E. p. meridionalis and other closely related taxa within the Eyprepocneminae subfamily) and western populations carrying rDNA in most A chromosomes (Spain) or all of them (Morocco). The intermediate pattern discerned in geographically intermediate populations (in Greece and Turkey), with rDNA also being located on the X chromosome, suggests a possible east–west cline. Additional support for east–west differentiation in the rDNA location pattern comes from the analysis of B chromosomes. In eastern populations, including Daghestan, Armenia, Turkey, and Greece, B chromosomes are composed mostly of rDNA, whereas in western populations (Spain and Morocco) they contain roughly similar amounts of rDNA and a 180-bp tandem repeat (satDNA), the latter being scarce in eastern Bs.
Mapping the chromosomes of Poncirus trifoliata Raf. by BAC-FISH
Authors: Moraes A.P. , Mirkov T.E. , Guerra M.
Published: September 2008

In spite of the importance of Citrus in agriculture and recent progress in genetic mapping and cytogenetics of this group, chromosome mapping of Citrus species is still limited to rDNA probes. In order to obtain a better chromosome characterization of one species from this group, CMA/DAPI double staining followed by in situ hybridization using 45S rDNA and 24 BACs (BAC-FISH) were used on Poncirus trifoliata. The BACs used were obtained from a genomic library of this species and were selected by membrane hybridization using genomic DNA. Four of them were isolated from the Citrus tristeza virus (Ctv) resistance gene region. The P. trifoliata karyotype is composed of two chromosome pairs with one terminal and one proximal CMA+ band (B type chromosomes), four chromosome pairs with a single CMA+ band (D type) and three chromosome pairs without bands (F type). In situ hybridization with 13 of the BACs gave single copy signals on seven chromosome pairs. At least one BAC was mapped on each arm of the two B chromosome pairs. Among the four D chromosome pairs, two were identified by BACs mapped on the long arms, one has a 45S rDNA site and the other had no signal. Six BACs allowed identification of the three F chromosome pairs, with one pair hybridizing with four BACs from the Ctv resistance gene region. In summary, all nine chromosome pairs could be differentiated, seven of them by BAC-FISH, while the other two chromosomes could be recognized by the CMA+ band pattern and 45S rDNA sites. This first BAC-FISH map gives a general framework for comparative genome structure and evolutionary studies in Citrus and Poncirus, allowing the integration of genetic and physical maps when these BACs are included.
A new unbalanced chromosomal abnormality in 1q31.1 to 1q32 without phenotypic consequences
Authors: Mrasek K. , Krüger G. , Bauer I. , Müller-Navia J. , Liehr T. , Weise A.
Published: September 2008

A familial duplication in the long arm of one chromosome 1 was detected due to recurrent abortions in a couple. The duplication was present in the male partner of the couple and in his mother, both clinically healthy. By reverse FISH, the duplication was determined to be located in 1q31. Multicolor banding (MCB) and application of locus-specific probes narrowed down the breakpoints to 1q31.1 and 1q32. The duplication spans a region of 13.9 Mb. None of the two breakpoints was colocalized with a known fragile site in 1q31.2, which, however, was duplicated. To the best of our knowledge, this is the first report of an unbalanced chromosome abnormality in this region that is not correlated with any clinical consequences.
Peromyscus maniculatus – Mus musculus chromosome homology map derived from reciprocal cross species chromosome painting
Authors: Mlynarski E.E. , Obergfell C.J. , Rens W. , O’Brien P.C.M. , Ramsdell C.M. , Dewey M.J. , O’Neill M.J. , O’Neill R.J.
Published: September 2008

The Mus musculus and Rattus norvegicus genomes have been extensively studied, yet despite the emergence of Peromyscus maniculatus as an NIH model for genome sequencing and biomedical research much remains unknown about the genome organization of Peromyscines. Contrary to their phylogenetic relationship, the genomes of Rattus and Peromyscus appear more similar at the gross karyotypic level than either does to Mus. We set out to define the chromosome homologies between Peromyscus, Mus and Rattus. Reciprocal cross-species chromosome painting and G-band homology assignments were used to delineate the conserved chromosome homology map between P. maniculatus and M. musculus. These data show that each species has undergone extensive chromosome rearrangements since they last shared a common ancestor 25 million years ago (mya). This analysis coupled with an inferred homology map with Rattus revealed a high level of chromosome conservation between Rattus and Peromyscus and indicated that the chromosomes of Mus are highly derived.
First prenatally detected small supernumerary neocentromeric derivative chromosome 13 resulting in a non-mosaic partial tetrasomy 13q
Authors: Mascarenhas A. , Matoso E. , Saraiva J. , Tönnies H. , Gerlach A. , Julião M.J. , Melo J.B. , Carreira I.M.
Published: September 2008

Neocentromeres are functional centromeres located in non-centromeric euchromatic regions of chromosomes. The formation of neocentromeres results in conferring mitotic stability to chromosome fragments that do not contain centromeric alpha satellite DNA. We present a report of a prenatal diagnosis referred to cytogenetic studies due to ultrasound malformations such as large cisterna magna, no renal differentiation, hypotelorism and ventriculomegaly. Cytogenetic analysis of GTG-banded chromosomes from amniotic fluid cells and fetal blood cells revealed a de novo small supernumerary marker chromosome. Molecular cytogenetic studies using fluorescence in situ hybridization and comparative genomic hybridization showed this marker to be an inverted duplication of the distal portion of chromosome 13q which did not contain detectable alpha satellite DNA. The neocentromeric constriction was located at band 13q31. The presence of a functional neocentromere on this marker chromosome was confirmed by immunofluorescence with antibodies to centromere protein-C. The anatomopathologic study revealed a female fetus with facial dysmorphisms, low set ears and renal dysplasia. Ten small supernumerary neocentromeric chromosomes originating from the distal region of chromosome 13q have been reported to date. There are only three additional cases described with the location of the neocentromere in band 13q31. This is the first reported case detected prenatally.
Severe psychomotor retardation in a boy with a small supernumerary marker chromosome 19p
Authors: Vraneković J. , Brajenović-Milić B. , Modrušan-Mozetić Z. , Babić I. , Kapović M.
Published: September 2008

We describe the clinical case of a nine-year-old boy with psychomotor retardation and a small supernumerary marker chromosome (sSMC) present in mosaic form. Fluorescence in situ hybridization (FISH) using centromere cross-hybridizing probes D1/5/19Z (pZ5.1), the whole chromosome paint probe 19, pool YACs19p (839B1, 872G3, 728C8), and pool YACs19q (767C4, 761C1, 786G6) demonstrated that the sSMC was derived from chromosome 19p. Based on GTG-banding and FISH analyses, the patient’s karyotype was interpreted as: 47,XY,+mar.ish der(19) (:p13.3→p11:)(839B1+, 872G3+,728C8+, D1/5/19Z+) de novo[52]/46,XY[48]. To our knowledge, only two other similar cases have been reported. This case helps to better delineate karyotype-phenotype correlations between sSMC 19p and associated clinical phenomena.
Dynamic mosaicism manifesting as loss, gain and rearrangement of an isodicentric Y chromosome in a male child with growth retardation and abnormal external genitalia
Authors: Iourov I.Y. , Vorsanova S.G. , Liehr T. , Monakhov V.V. , Soloviev I.V. , Yurov Y.B.
Published: September 2008

Isodicentric chromosomes are considered the most common structural abnormality of the human Y chromosome. Because of their instability during cell division, loss of an isodicentric Y seems mainly to lie at the origin of mosaicism in previously reported patients with a 45,X cell line. Here, we report on a similar case, which, however, turned out to be an example of dynamic mosaicism involving isodicentric chromosome Y and isochromosome Y after FISH with a set of chromosome Y-specific probes and multicolor banding. Cytogenetic analyses (GTG-, C-, and Q-banding) have shown three different cell lines: 45,X/46, X,idic(Y)(q12)/46,X,+mar. The application of molecular cytogenetic techniques established the presence of four cell lines: 45,X (48%), 46,X,idic(Y)(q11.23) (42%), 46,X,i(Y)(p10) (6%) and 47,X,idic(Y)(q11.23),+idic(Y)(q11.23) (4%). According to the available literature, this is the first case of dynamic mosaicism with up to four different cell lines involving loss, gain, and rearrangement of an idic(Y)(q11.23). The present report indicates that cases of mosaicism involving isodicentric and isochromosome Ys can be more dynamic in terms of somatic intercellular variability that probably has an underappreciated effect on the phenotype.
The Role of Epithelial Integrin Receptors in Recognition of Pulmonary Pathogens
Authors: Ulanova Marina , Gravelle Sean , Barnes Rebecca
Published: September 2008

Integrins are a large family of heterodimeric transmembrane cell adhesion receptors. During the last decade, it has become clear that integrins significantly participate in various host-pathogen interactions involving pathogenic bacteria, fungi, and viruses. Many bacteria possess adhesins that can bind either directly or indirectly to integrins. However, there appears to be an emerging role for integrins beyond simply adhesion molecules. Given the conserved nature of integrin structure and function, and the diversity of the pathogens which use integrins, it appears that they may act as pattern recognition receptors important for the innate immune response. Several clinically significant bacterial pathogens target lung epithelial integrins, and this review will focus on exploring various structures and mechanisms involved in these interactions.
Attenuated Activation of Macrophage TLR9 by DNA from Virulent Mycobacteria
Authors: Kiemer Alexandra K. , Senaratne Ryan H. , Hoppstädter Jessica , Diesel Britta , Riley Lee W. , Tabeta Koichi , Bauer Stefan , Beutler Bruce , Zuraw Bruce L.
Published: September 2008

Alveolar macrophages are the first line of host defence against mycobacteria, but an insufficient host response allows survival of bacteria within macrophages. We aimed to investigate the role of Toll-like receptor 9 (TLR9) activation in macrophage defence against mycobacteria. Human in vitrodifferentiated macrophages as well as human and mouse alveolar macrophages showed TLR9 mRNA and protein expression. The cells were markedly activated by DNA isolated from attenuated mycobacterial strains (H37Ra and Mycobacterium bovis BCG) as assessed by measuring cytokine expression by real-time PCR, whereas synthetic phosphorothioate-modified oligonucleotides had a much lower potency to activate human macrophages. Intracellular replication of H37Ra was higher in macrophages isolated from TLR9-deficient mice than in macrophages from wild-type mice, whereas H37Rv showed equal survival in cells from wild-type or mutant mice. Increased bacterial survival in mouse macrophages was accompanied by altered cytokine production as determined by Luminex bead assays. In vivo infection experiments also showed differential cytokine production in TLR9-deficient mice compared to wild-type animals. Both human monocyte-derived macrophages as well as human alveolar macrophages showed reduced activation upon treatment with DNA isolated from bacteria from virulent (M. bovis and H37Rv) compared to attenuated mycobacteria. We suggest attenuated TLR9 activation contributes to the insufficient host response against virulent mycobacteria.
Assessment of Change of Quality of Life in Terminally Ill Patients under Cancer Pain Management Using the EORTC Core Quality of Life Questionnaire (QLQ-C30) in a Korean Sample
Authors: Park Keon Uk
Published: September 2008

Objective: The European Organization for Research and Treatment of Cancer Core Quality of Life Questionnaire (EORTC QLQ-C30) is composed of 5 multi-item function scales and 9 symptom scales. The Korean EORTC QLQ-C30 was drawn up by the EORTC itself. However, its validity and reliability in the palliative care has not been reported. The aim of this study was to evaluate the practicality, reliability, and validity of the Korean EORTC QLQ-C30 in terminally ill patients under cancer pain management. Methods: The study was conducted from March 2003 to February 2004. The main sample consisted of 159 patients with cancer-related pain during the past week. To assess the severity and impact of pain, the patients completed the Korean version of the Brief Pain Inventory. We enrolled the patients with substantial pain who rated their worst pain as 5 or higher. The participants reported their worst pain of the previous week using the Brief Pain Inventory and were given the EORTC QLQ-C30 to fill out. Two weeks later, the patients were asked to complete the questionnaire a second time while they were on cancer pain management. Results: The questionnaire was well accepted among terminally ill cancer patients. The scale reliability was very good [Cronbach’s alpha: 0.80–0.91 (before treatment), 0.81–0.92 (on treatment)], except for cognitive function. In the initial measure of the QLQ-C30 for each patient, clinical validity was found for all the functional scales using the Eastern Cooperative Oncology Group Performance Status Scale. Ninety-eight patients had improved cancer pain severity, 17 patients had deteriorated cancer pain, and 29 patients had unchanged pain. The differences in QLQ-C30 scores were compared between the improved and nonimproved cancer pain group. Statistically significant between-group differences over time were observed for the scales of global quality of life, fatigue, pain, nausea, and sleep disturbance. Conclusions: Cronbach’s alpha coefficient to judge internal consistency was very good except for cognitive functioning. The Korean QLQ-C30 has a strong validity in functional scales. Global quality of life, pain, fatigue, nausea, and sleep disturbance were improved after cancer pain management. These results support that the QLQ-C30 is a reliable and valid measure of quality of life in Korean cancer patients receiving cancer pain management. We consider that the QLQ-C30 can be used effectively in the palliative care settings in order to assess the effects of cancer pain management on quality of life of advanced-stage cancer patients.
Improving Cancer Pain Management in Malaysia
Authors: Lim Richard
Published: September 2008

Within Malaysia’s otherwise highly accessible public healthcare system, palliative medicine is still an underdeveloped discipline. Government surveys have shown that opioid consumption in Malaysia is dramatically lower than the global average, indicating a failure to meet the need for adequate pain control in terminally ill patients. Indeed, based on daily defined doses, only 24% of patients suffering from cancer pain receive regular opioid analgesia. The main barriers to effective pain control in Malaysia relate to physicians’ and patients’ attitudes towards the use of opioids. In one survey of physicians, 46% felt they lacked knowledge to manage patients with severe cancer pain, and 64% feared effects such as respiratory depression. Fear of addiction is common amongst patients, as is confusion regarding the legality of opioids. Additional barriers include the fact that no training in palliative care is given to medical students, and that smaller clinics often lack facilities to prepare and stock cheap oral morphine. A number of initiatives aim to improve the situation, including the establishment of palliative care departments in hospitals and implementation of post-graduate training programmes. Campaigns to raise public awareness are expected to increase patient demand for adequate cancer pain relief as part of good care.
Documenting Pain as the Fifth Vital Sign: A Feasibility Study in an Oncology Ward in Sarawak, Malaysia
Authors: Devi B.C.R. , Tang T.S.
Published: September 2008

Background: Monitoring acute postoperative pain as the fifth vital sign is currently practiced in many developed countries. In Sarawak, pain is an important symptom as 70% of cancer patients present with advanced disease. As the existing validated pain assessment tools were found to be difficult to use, we studied the feasibility of modifying the use of a pain assessment tool, consisting of the short form of the Brief Pain Inventory and the Wong-Baker Faces Scale. Method: This tool was used to document pain in all 169 patients who were admitted for pain control to the oncology ward between July 2000 and June 2001. Nurses were trained in the use of the modified scale before the start of the study. Results: The method was easy to use, and the mean number of days to reduce pain was found to be 3.1 days (SD: 2.9; median: 2 days; range: 1–31 days). At discharge, none in the group with initially mild pain had pain, and the severity of pain for 98% of patients with moderate pain and 61% with severe pain was downgraded to mild pain. Conclusion: The staff found that the tool allowed continuous pain assessment in an objective manner.
Pattern of Pain Management Practices of Filipino Surgeons
Authors: de Leon Jose Rhoel C. , Espinosa Erwin
Published: September 2008

Background: Among all the fields of specialization in medicine, the surgeons probably encounter the highest number of pain patients, aside from ‘causing’ many painful conditions due to surgical procedures. It was widely presumed that surgeons in general do not pay much attention to pain management of their patients, often passing on the responsibility to other specialists. Methods: A survey was conducted among general surgeons from all the regions in the Philippines. There were 167 respondents of 200 questionnaires sent. An 18-item, multiple-choice questionnaire was developed to assess their prevailing pain management practices preoperatively, postoperatively and when the patients are recovering, as well as their preferences in medications. Results: The majority of the respondents (58%) claim that they personally manage their patients’ postoperative pain. Almost half use a combination of a nonsteroidal anti-inflammatory drug (NSAID) and a weak opioid, and only 13% use a combination of a strong opioid and an NSAID. Only 17% of the respondents start oral medications in the recovery room. The majority (90%) claim that they personally attend to their patients’ pain in the wards. Almost all the respondents (98.8%) started oral medications as soon as possible. Only 20% of the respondents always use the Visual Analog Scale in pain assessment. The majority of the respondents (55%) have no narcotic license (S2). Conclusions: Although the majority of the respondents claim to be involved in the management of perioperative pain of their patients, an objective assessment of the patients’ pain is not usually done. The use of opioids alone or in combination is still low among Filipino surgeons; the main reason could be the regulatory provisions of the government on opioid use.
Postmarketing Surveillance Study of OxyContin® Tablets for Relieving Moderate to Severe Cancer Pain
Authors: Yu Shi Ying
Published: September 2008

Objective: To evaluatethe efficacy and safety of OxyContin® tablets (controlled-release oxycodone hydrochloride: 5, 10, 20, and 40 mg) in relieving moderate to severe cancer pain. Method: A multicenter, open-label, prospective, self-controlled clinical trial was used. Results: Pain was relieved in 89.1% of patients within 1 h after drug administration. OxyContin® tablets showed good clinical efficacy in relieving both moderate and severe cancer pain. Compared with baseline average pain scores of 6.9 ± 1.4, subjects had lower average pain scores after administration of OxyContin® tablets: 2.7 ± 1.8 after 1 week and 2.1 ± 1.5 after 2 weeks. Response rate reached 75.0% at the end of the 1st week and was maintained at approximately 90% from the 3rd to the 8th week. The most common adverse drug reactions (ADRs) caused by OxyContin®tablets were, in descending order of incidence rate: constipation (25.5%), nausea (13.3%), vomiting (6.2%), lethargy (3.7%), and dysuria (2.1%). All these ADRs could be decreased by preventive medications. Conclusion: OxyContin® tablets demonstrated fast onset of cancer pain control, superior efficacy in relieving both moderate and severe cancer pain and a good safety profile.
Opioids for Metastatic Bone Pain
Authors: Hara Satoshi
Published: September 2008

Metastatic bone pain is characteristic of cancer pain. Satisfactory analgesic effects are achieved in more than 70% of patients with cancer pain who receive a combination of nonsteroidal anti-inflammatory drugs and opioids, according to the WHO therapeutic guidelines. Morphine, oxycodone, and fentanyl are commonly administered opioids. We found that the mean dose of oxycodone to achieve analgesic effects was 55 mg, and at doses of ≤80 mg satisfactory analgesia was achieved in 80% of our patients. Palliative radiation was performed in 6 patients, resulting in pain relief in 4 and therefore the dose of opioids could be reduced. Bone metastasis should not be considered as the terminal stage, and decisions on the administration of drugs, in combination with radiation or orthopedic therapy, should be made at an early stage. Alleviation of pain and allowing a better quality of patient survival time, even if not for long, should be attempted.
Oxycodone-Induced Analgesic Effects in a Bone Cancer Pain Model in Mice
Authors: Kato Akira , Minami Kazuhisa , Ito Hisanori , Tomii Takako , Matsumoto Mitsunobu , Orita Satoshi , Kihara Tsuyoshi , Narita Minoru , Suzuki Tsutomu
Published: September 2008

The femur bone cancer pain model was developed by implanting mouse osteolytic tumor cells (NCTC 2472) into the intramedulla of the femur in C3H/HeN mice. In vivo imaging analysis revealed that the implanted tumor cells grew progressively over 14 days. Associated with the tumor growth, guarding behavior, which was an indication of ongoing pain, time-dependently increased. Limb use abnormality and allodynia, which were indications of ambulatory and neuropathic pain, respectively, also appeared. The analgesic effects of oxycodone and other opioids, such as morphine and fentanyl, were evaluated at 14 days when all pain-related behaviors clearly appeared. Oxycodone (2–20 mg/kg, s.c.), morphine (10–50 mg/kg, s.c.) and fentanyl (0.05–0.2 mg/kg, s.c.) significantly reduced guarding behavior. Oxycodone (5–20 mg/kg, s.c.) and fentanyl (0.1 and 0.2 mg/kg, s.c.) significantly reversed limb use abnormality, but morphine (5–50 mg/kg, s.c.) did not. Moreover, oxycodone (5–20 mg/kg, s.c.) dose-dependently reversed allodynia without affecting the sham-treated mice. Morphine (50 mg/kg, s.c.) and fentanyl (0.075–0.2 mg/kg, s.c.) also reversed allodynia, but morphine (50 mg/kg, s.c.) tended to affect and fentanyl (0.1 and 0.2 mg/kg, s.c.) affected the withdrawal threshold in sham-treated mice. These results suggested that oxycodone relieved not only ongoing pain, but also ambulatory and neuropathic pain, and that the analgesic profile of oxycodone could be different from that of either morphine or fentanyl.