bluuebunny/crossref_metadata_2025 huggingface dataset:
Molecular characterization of a new patient with a non‐recurrent inv dup del 2q and review of the mechanisms for this rearrangement
Authors: Vera‐Carbonell Ascensión , López‐Expósito Isabel , Bafalliu Juan Antonio , Ballesta‐Martínez María , Glóver Guillermo , Llópis Carina , Moya‐Quiles Rosa , Suela Javier , Fernández Asunción , Guillén‐Navarro Encarna
Published: August 2010

We report on newborn baby with microcephaly, facial anomalies, congenital heart defects, hypotonia, wrist contractures, long fingers, adducted thumbs, and club feet. Cytogenetic studies revealed an inverted duplication with terminal deletion (inv dup del) of 2q in the patient and a paternal 2qter deletion polymorphism. Microsatellite markers demonstrated that the inv dup del was maternal in origin and intrachromosomal. Intra or interchromosomal rearrangements may cause this aberration either by a U‐type exchange (end‐to‐end fusion), an unequal crossover between inverted repeats (non‐allelic homologous recombination: NAHR), or through breakage‐fusion‐bridge (BFB) cycles leading to a sister chromatid fusion by non‐homologous end joining (NHEJ). A high‐resolution oligo array‐CGH (244 K) defined the breakpoints and did not detect a single copy region with a size exceeding 12.93 Kb in the fusion site. The size of the duplicated segment was 38.75 Mb, extending from 2q33.1 to 2q37.3 and the size of the terminal deletion was 2.85 Mb in 2q37.3. Our results indicate that the inv dup del (2q) is likely a non‐recurrent chromosomal rearrangement generated by a NHEJ mechanism. The major clinical characteristics associated with this 2q rearrangement overlap with those commonly found in patients with 2q duplication reported in the literature. © 2010 Wiley‐Liss, Inc.
Introductory comments on special section—New developments in craniofacial biology: Putting on a happy face
Authors: Shanske Alan L.
Published: August 2010

Approximately three quarters of children with birth defects have anomalies that affect the craniofacial structures. Defects in this area of the body result in lifelong disability, major challenges to families and society and often a serious effect on life expectancy. Surgery has been the primary intervention for these disorders, with frequently less than optimal outcomes and risk for additional morbidity and mortality. The challenge for clinicians caring for these children is to develop new methods for the treatment and prevention of these disorders. An understanding of the evolution of the head and the finely tuned temporospatial signaling pathways involved is critical to understanding the origins of the vertebrates as well as of human craniofacial malformations. In the future, these new approaches will be based upon our enhanced understanding of the developmental tool kit fashioned by evolution and the application of this knowledge toward the development of new diagnostic, pharmacologic, and genetic interventions for these disorders. © 2010 Wiley‐Liss, Inc.
Mutations in the G6PC3 gene cause Dursun syndrome
Authors: Banka Siddharth , Newman William G. , Özgül R. Koksal , Dursun Ali
Published: August 2010

Dursun syndrome is a triad of familial primary pulmonary hypertension, leucopenia, and atrial septal defect. Here we demonstrate that mutations in G6PC3 cause Dursun syndrome. Mutations in G6PC3 are known to also cause severe congenital neutropenia type 4. Identification of the genetic basis of Dursun syndrome expands the pre‐existing knowledge about the phenotypic effects of mutations in G6PC3. We propose that Dursun syndrome should now be considered as a subset of severe congenital neutropenia type 4 with pulmonary hypertension as an important clinical feature. © 2010 Wiley‐Liss, Inc.
The ancient Egyptian dwarfs of the Walters Art Museum
Authors: Kozma Chahira
Published: August 2010

The ancient Egyptians left an impressive artistic legacy documenting many aspects of their society including the existence of dwarfs as highly valued members. In previous publications in theJournal, I discussed dwarfs and skeletal dysplasia in ancient Egypt. In this study, I examined the ancient Egyptian representations of dwarfs of the Walters Art Museum in Baltimore, Maryland. One of the highlights of the collection is a group of five ivory figurines from Predynastic Times (pre 3500–3100 BCE) depicting a couple, a man with a child, and two females. Representations from other periods include ordinary as well as dwarf deities. The dwarf gods, Bes and Ptah, are frequently depicted holding or biting snakes or standing on crocodiles symbolizing their ability to ward off dangers. A couple of statuettes from the Greco‐Roman Period that, in contrast to earlier Egyptian Periods, depict harsh physical anomalies, twisted bodies, and facial pain. The artistic impression can be interpreted as either tragic or humorous. The grotesque depiction of dwarfs during the Greco‐Roman Period in ancient Egypt is believed to be due to a greater infusion of Hellenistic influence. This study provides a microcosm of the legacy of dwarfs in ancient Egypt and supports the premise that dwarfs were accepted and integrated in the ancient Egyptian society, and with a few exceptions, their disorder was not depicted as a physical handicap. © 2010 Wiley‐Liss, Inc.
Communication of biobanks' research results: What do (potential) participants want?
Authors: Meulenkamp Tineke M. , Gevers Sjef K. , Bovenberg Jasper A. , Koppelman Gerard H. , Vlieg Astrid van Hylckama , Smets Ellen M.A.
Published: August 2010

The aim of this study was to investigate (potential) research participants' (a) information preferences with regard to receiving biobanks' genetic research results, and (b) attitudes towards the duties of researchers to communicate research results. A total group of 1,678 was analyzed, consisting of a sample of the general Dutch population (N = 1,163) and patients with asthma, rhinitis, and thrombosis (N = 515) who completed a survey including six fictitious genetic research results each presented as aggregate and individual result, varied for treatability and kind of disease. Five questions assessed attitudes towards researchers' duties to communicate research results. Additionally, background characteristics were measured. A majority of the respondents wanted to receive aggregate results as well as individual results. A small majority (59%) held the view that researchers should communicate individual results with no health consequences. One third agreed with an information duty only when treatment is available. A preference for individual results and an attitude in favor of communicating results were both associated with belonging to the general Dutch population rather than being a patient, wanting to learn about own health as the reason for biobank‐participation, a monitoring coping style, a general desire for health information, perceived meaningfulness of genetic information and no anticipated anxiousness. A sizable majority of respondents showed a high information preference for individual results, even when it is unclear that treatment is available. Fewer were of the opinion that researchers should make this possible. For their communication policy biobanks should take notice of (potential) participants' high information preferences and expectations. © 2010 Wiley‐Liss, Inc.
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH
Authors: Kantarci Sibel , Ackerman Kate G. , Russell Meaghan K. , Longoni Mauro , Sougnez Carrie , Noonan Kristin M. , Hatchwell Eli , Zhang Xiaoyun , Vanmarcke Rafael Pieretti , Anyane‐Yeboa Kwame , Dickman Paul , Wilson Jay , Donahoe Patricia K. , Pober Barbara R.
Published: August 2010

Cytogenetic and molecular cytogenetic studies demonstrate association between congenital diaphragmatic hernia (CDH) and chromosome 1q41q42 deletions. In this study, we screened a large CDH cohort (N = 179) for microdeletions in this interval by the multiplex ligation‐dependent probe amplification (MLPA) technique, and also sequenced two candidate genes located therein, dispatched 1 (DISP1) and homo sapiens H2.0‐like homeobox (HLX). MLPA analysis verified deletions of this region in two cases, an unreported patient with a 46,XY,del(1)(q41q42.13) karyotype and a previously reported patient with a Fryns syndrome phenotype [Kantarci et al., 2006]. HLX sequencing showed a novel but maternally inherited single nucleotide variant (c.27C>G) in a patient with isolated CDH, while DISP1 sequencing revealed a mosaic de novo heterozygous substitution (c.4412C>G; p.Ala1471Gly) in a male with a left‐sided Bochdalek hernia plus multiple other anomalies. Pyrosequencing demonstrated the mutant allele was present in 43%, 12%, and 4.5% of the patient's lymphoblastoid, peripheral blood lymphocytes, and saliva cells, respectively. We examined Disp1 expression at day E11.5 of mouse diaphragm formation and confirmed its presence in the pleuroperitoneal fold, as well as the nearby lung which also expresses Sonic hedgehog (Shh). Our report describes the first de novo DISP1 point mutation in a patient with complex CDH. Combining this finding with Disp1 embryonic mouse diaphragm and lung tissue expression, as well as previously reported human chromosome 1q41q42 aberrations in patients with CDH, suggests that DISP1 may warrant further consideration as a CDH candidate gene. © 2010 Wiley‐Liss, Inc.
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
Authors: Mahajan Vinit B. , Olney Ann Haskins , Garrett Penny , Chary Ajit , Dragan Ecaterina , Lerner Gary , Murray Jeffrey , Bassuk Alexander G.
Published: August 2010

Knobloch syndrome (KNO) is caused by mutations in the collagen XVIII gene (COL18A1) and patients develop encephalocele and vitreoretinal degeneration. Here, we report an El Salvadorian family where two sisters showed features of KNO. One of the siblings also developed acute lymphoblastic leukemia. DNA sequencing of COL18A1 revealed a homozygous, 2‐bp deletion (c3514‐3515delCT) in exon 41, which leads to abnormal collagen XVIII and deficiency of its proteolytic cleavage product endostatin. KNO patients with mutations in COL18A1 may be at risk for endostatin‐related conditions including malignancy. © 2010 Wiley‐Liss, Inc.
Barber–Say syndrome in a father and daughter
Authors: Roche Nathalie , Houtmeyers Philippe , Janssens Sandra , Blondeel Philllip
Published: August 2010

We report on a father to daughter transmission of Barber–Say syndrome (BSS), a rare, congenital disorder characterized by severe generalized hypertrichosis, macrostomia, ocular telecanthus, bulbous nose and atrophic skin. These two cases further support the autosomal dominant inheritance. Both presented with the typical BSS symptoms but the phenotypic expression in the father was milder. Treatment is challenging for both patients and doctors, requiring a multidisciplinary approach. © 2010 Wiley‐Liss, Inc.
IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population
Authors: Pan Yongchu , Ma Junqing , Zhang Weibin , Du Yifei , Niu Yuming , Wang Meilin , Zhang Zhengdong , Wang Lin
Published: August 2010

IRF6 plays an important role in orofacial development. In the present study, we genotyped two polymorphisms (rs642961 and rs2235371) within the IRF6 locus and estimated their associations with risk of nonsyndromic orofacial clefts (NSOC), including the subgroups, in a hospital‐based case–control study in a Chinese Han population. In the single locus analyses, we found rs642961 AG and AG/AA genotypes were associated with increased risk of NSOC, especially cleft lip with or without cleft palate (CL/P) and cleft lip with cleft palate (CLP), while significantly decreased risks were associated with rs2235371 CT and CT/TT genotypes. When examining the combined effects of these two polymorphisms and using the rs642961 A and rs2235371 C alleles as the risk alleles, we found genotypes containing 2–4 risk alleles conferred high risk to NSOC, CL/P, and CLP. Furthermore, to test whether rs642961 could modulate IRF6 expression in vivo, we surgically collected lip skin tissues within the adjacent region of lip cleft site and found rs642961 genotypes were associated with differential levels of IRF6 mRNA and protein expression in an allele‐dosage manner, providing the first evidence that rs642961 affected IRF6 expression in vivo. Taken together, these findings confirm the contribution of IRF6 genetic variants in the etiology of NSOC in a Chinese Han population. © 2010 Wiley‐Liss, Inc.
Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males
Authors: Collins Stephen C. , Bray Steven M. , Suhl Joshua A. , Cutler David J. , Coffee Bradford , Zwick Michael E. , Warren Stephen T.
Published: August 2010

Fragile X syndrome (FXS), the most common inherited form of developmental delay, is typically caused by CGG‐repeat expansion in FMR1. However, little attention has been paid to sequence variants in FMR1. Through the use of pooled‐template massively parallel sequencing, we identified 130 novel FMR1 sequence variants in a population of 963 developmentally delayed males without CGG‐repeat expansion mutations. Among these, we identified a novel missense change, p.R138Q, which alters a conserved residue in the nuclear localization signal of FMRP. We have also identified three promoter mutations in this population, all of which significantly reduce in vitro levels of FMR1 transcription. Additionally, we identified 10 noncoding variants of possible functional significance in the introns and 3′‐untranslated region of FMR1, including two predicted splice site mutations. These findings greatly expand the catalog of known FMR1 sequence variants and suggest that FMR1 sequence variants may represent an important cause of developmental delay. © 2010 Wiley‐Liss, Inc.
Somatic mosaicism in Menkes disease suggests choroid plexus‐mediated copper transport to the developing brain
Authors: Donsante Anthony , Johnson Paul , Jansen Laura A. , Kaler Stephen G.
Published: August 2010

The primary mechanism of copper transport to the brain is unknown, although this process is drastically impaired in Menkes disease, an X‐linked neurodevelopmental disorder caused by mutations in an evolutionarily conserved copper transporter, ATP7A. Potential central nervous system entry routes for copper include brain capillary endothelial cells that originate from mesodermal angioblasts and form the blood–brain barrier, and the choroid plexuses, which derive from embryonic ectoderm, and form the blood–cerebrospinal fluid barrier. We exploited a rare (and first reported) example of somatic mosaicism for an ATP7A mutation to shed light on questions about copper transport into the developing brain. In a 20‐month‐old Menkes disease patient evaluated before copper treatment, blood copper, and catecholamine concentrations were normal, whereas levels in cerebrospinal fluid were abnormal and consistent with his neurologically severe phenotype. We documented disparate levels of mosaicism for an ATP7A missense mutation, P1001L, in tissues derived from different embryonic origins; allele quantitation showed P1001L in approximately 27% of DNA samples from blood cells (mesoderm‐derived) and 88% from cultured fibroblasts (ectoderm‐derived). These findings imply that the P1001L mutation in the patient preceded formation of the three primary embryonic lineages at gastrulation, with the ectoderm layer ultimately harboring a higher percentage of mutation‐bearing cells than mesoderm or endoderm. Since choroid plexus epithelia are derived from neuroectoderm, and brain capillary endothelial cells from mesodermal angioblasts, the clinical and biochemical findings in this infant support a critical role for the blood–CSF barrier (choroid plexus epithelia) in copper entry to the developing brain. © 2010 Wiley‐Liss, Inc.
Synthesis of Zn/Mg oxide nanoparticles and its influence on sulfur vulcanization
Authors: Guzmán Manuel , Reyes Guillermo , Agulló Núria , Borrós Salvador
Published: August 2010

To reduce the ZnO levels in rubber compounds, mixed metal oxide nanoparticles of zinc and magnesium (Zn1−xMgxO) have been synthesized and used as activator. The aim is to obtain better curing properties due to its nanosize and to take advantage of the behavior of both ZnO and MgO in sulfur vulcanization. The model compound vulcanization approach with squalene as a model molecule for NR and CBS as accelerator has been used to study the role of the mixed metal oxide along the reaction. The results found show that with Zn1–xMgxO nanoparticles the reaction of CBS becomes faster, higher amounts of MBT are formed at shorter reaction times, and the consumption of sulfur occurs faster in comparison with standard ZnO. Furthermore and more important, an increased crosslink degree calculated as the total amount of crosslinked squalene is obtained. All these findings indicate that Zn1−xMgxO is a promising candidate to reduce the ZnO levels in rubber compounds. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Crystallization of amorphous poly(lactic acid) induced by organic solvents
Authors: Naga Naofumi , Yoshida Yuji , Inui Masaya , Noguchi Keiichi , Murase Shigemitsu
Published: August 2010

Crystallization of amorphous poly(lactic acid) (PLA) was investigated in various organic solvents, such as acetone, ethylacetate, diethylether, tetrahydrofurane, methanol, hexane, toluene, xylene, and o‐dichlorobenene. Most of the solvents, except hexane, induced crystallization of amorphous PLA. Acetone was the most effective solvent to accelerate the crystallization among the solvents used. The crystallization was induced by permeation of acetone into the amorphous phase of PLA, and the permeation obeyed Fick type diffusion. The crystallization rate increased with increasing of conducting temperature. Crystallized PLA formed α crystalline structure. The permeated acetone in the crystallized PLA gradually evaporated as time passes, and the elimination of acetone affected thermal and mechanical properties of the crystallized PLA. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Evaluation of interfacial layer properties in the polystyrene/silica nanocomposite
Authors: Mortezaei Mehrzad , Farzi Gholamali , Kalaee Mohammad Reza , Zabihpoor Mahmood
Published: August 2010

Processing conditions and final mechanical properties of polymer nanocomposites are affected by their interfacial layers behavior. However, it is impossible to determine directly the properties of these layers by dynamic rheometry tests. In this work, the interfacial layers properties are evaluated for polystyrene containing silica nanoparticles by the concept of glass‐transition temperature shift. The samples were prepared via solution‐mixing method and dynamic rheometry was used to determine the viscoelastic behavior of filled polymers in the melt state. This initial step showed that addition of silica particles increased the glass‐transition temperature. By preference, decrease in the filler particle size lead to a drastic increase in the glass‐transition temperature and interfacial layer volume fraction due to relatively high surface area of the small filler particles. Then, in the next step, the viscoelastic properties of interfacial layer have been evaluated on the basis of the properties of neat polystyrene using temperature‐frequency superposition law. For this purpose, the shift factor was calculated from the glass‐transition temperature of the sample with maximum filler content. Finally, the effect of immobilized interfacial layer on the viscoelastic properties of the polymer nanocomposite samples has been estimated. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
The adsorption of sulphonated azo‐dyes methyl orange and xylenol orange by coagulation on hollow chitosan microsphere
Authors: Wang Shan , Yu Demei , Huang Yi , Guo Jinchan
Published: August 2010

Chitosan (CS) can be used as adsorbent in the treatment of effluents from the textile industry, especially for negatively charged dyes, due to its cationic polyelectrolyte nature. In this work, the adsorption of a model dye, methyl orange, xylenol orange on hollow CS microsphere is analyzed. Adsorption of methyl orange, xylenol orange onto cross‐linked CS is realized by means of analysis of pH influence, agitation time, and initial concentration of the dye. The results obtained from the experiment shows that the adsorption capacities of the two dye‐hollow CS microsphere systems are higher than those stated in other literature using CS particles. The difference in the degree of adsorption may also be attributed to the size and chemical structure of the dye molecule. The results have demonstrated that monovalent and smaller dye molecular sizes have superior capacities due to the increase in dye/CS surface ratio in the system and deeper penetration of dye molecules into the internal pore structure of hollow CS microsphere. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Numerical approach to modeling fiber motion during melt blowing
Authors: Zeng Y. C. , Sun Y. F. , Wang X. H.
Published: August 2010

Melt blowing involves applying a jet of hot air to an extruding polymer melt and drawing the polymer stream into microfibers. This study deals with the dynamic modeling of the instabilities and related processes during melt blowing. A bead‐viscoelastic element model for fiber formation simulation in the melt blowing process was proposed. Mixed Euler‐Lagrange approach was adopted to derive the governing equations for modeling the fiber motion as it is being formed below a melt‐blowing die. The three‐dimensional paths of the fiber whipping in the melt blowing process were calculated. Predicted parameters include fiber diameter, fiber temperature, fiber stress, fiber velocity, and the amplitude of fiber whipping. The mathematical model provides a clear understanding on the mechanism of the formation of microfibers during melt blowing. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Influence of crosslinkers and crosslinking method on the properties of gelatin films extracted from leather solid waste
Authors: Catalina M. , Attenburrow G. E. , Cot J. , Covington A. D. , Antunes A. P. M.
Published: August 2010

Gelatin was extracted from chrome tanned leather waste with the aim to produce a durable coating or film. Crosslinking has shown to improve the physical performance of a film/coating. The effect of the method of crosslinking and the use of different crosslinking agents were studied. The extracted gelatin was crosslinked either by immersion of preformed films into a crosslinker solution (Method A) or by the addition of the crosslinking reagent to the gelatin solution prior to film formation (Method B). The different results obtained between both methods may be due to: the relative concentration of crosslinking reagent, the introduction of crosslinks within different regions of gelatin (triple helical regions and random coil regions), and the reaction rate. Method A of crosslinking is more likely to form crosslinks outside but close to the triple helical regions, disrupting the order and stability of the helical structure. Crosslinks may form preferentially within the random coil regions when Method B of crosslinking is used. Both methods led to the formation of chemical crosslinks in the extracted gelatin films, as demonstrated by the reduction of the degree of aqueous swelling and the proportion of low molecular weight fractions. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Predicting cohesive failure in thermosets
Authors: Adolf Douglas B. , Chambers Robert S. , Elisberg Brenton , Stavig Mark , Ruff Mary
Published: August 2010

Modeling of stresses in epoxies used as adhesives, coatings, or encapsulants in electronic packaging can guide an engineer to more robust designs and material selections. However, stresses by themselves allow evaluation of qualitative trends only. Quantitative assessment of design margins requires some knowledge of when stresses become excessive and failure is imminent. In this study, stresses were predicted accurately in a wide variety of tests, and the state of stress and strain was examined at the point of experimental failure to extract a single scalar metric that design engineers could use to correlate with the observed initiation of cracking. A value of the maximum principal strain of roughly 40% satisfactorily matched data encompassing different geometries, modes of deformation, and test temperature and is apparently linked to a physical mechanism of failure arising from “run‐away” nonlinear viscoelasticity. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Use of solid residue from olive kernel pyrolysis for polymer matrix composite manufacturing: Physical and mechanical characterization
Authors: Papanicolaou G. C. , Xepapadaki A. G. , Angelakopoulos G. C. , Zabaniotou A. , Ioannidou O.
Published: August 2010

This study is aiming at the production of carbon material from agricultural residues by pyrolysis and their further use for the production of green polymeric composites. The development of an agricultural‐based polymer matrix compatible with olive pits and consequently a fully biodegradable composite system is the future and ultimate goal of the undertaken research. In this study, pyrolysis of olive kernels was conducted at 800°C for 1 h. Furthermore, elemental, proximate, and metal analyses were performed for to the raw material and the produced char. The analyses showed that the pyrolytic char from olive kernel is a carbon rich material with significant concentration in metals, which can be further studied as additive for the production of green materials. For that purpose, samples made out of epoxy matrix, reinforced with pyrolytic char from olive kernel at different concentrations, were manufactured and mechanically characterized at three point bending conditions. A maximum increase of 60% in bending modulus in comparison to the net matrix modulus was achieved. The new material developed in the present investigation is a green composite with an elastic modulus 60% higher than that of the pure matrix. Results were also compared with predictions derived by the application of a theoretical model previously developed by the first author for the evaluation of the elastic modulus in particulate composites taking into account not only the effect of filler‐matrix adhesion but also the degree of dispersion of fillers into the matrix. It was found that predicted values as derived from the application of the model were in very good agreement with experimental findings. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Inter‐annual variability in amphibian assemblages: implications for diversity assessment and conservation
Authors: Gómez‐Rodríguez Carola , Díaz‐Paniagua Carmen , Bustamante Javier , Portheault Alexandre , Florencio Margarita
Published: August 2010

Diversity assessments and conservation management should take into account the dynamic nature of populations and communities, particularly when they are subject to highly variable and unpredictable environmental conditions.

This study evaluates the inter‐annual variability in the assemblage composition (temporal turnover) of an amphibian community breeding in a highly dynamic habitat, a Mediterranean temporary pond system, during a 4‐year period.

A comprehensive framework is provided to evaluate temporal turnover from data of a differing nature (species richness, presence/absence and relative abundance) and, especially, to discern variation in richness (species loss) from changes in the identity or abundance of species (species replacement).

Results show that the pond amphibian assemblages in Doñana National Park exhibited high inter‐annual variability during the study period, both in the number of species, species identity and their relative abundance. This result provides evidence for the inadequacy of surveys conducted only in one breeding season to characterize the species assemblage associated with a given pond. Besides, it suggests that a given pond offers different breeding opportunities over time, being suitable for different species depending on the year. This alternation will contribute to the medium‐term preservation of all species in the assemblage.

It is highly relevant to preserve the natural dynamism and spatial variability of temporary pond systems, which will favour the conservation of populations through their intrinsic variability. Copyright © 2010 John Wiley & Sons, Ltd.
Identifying the origins of fishing gear ingested by seabirds: a novel multivariate approach
Authors: Ridley Cindy , Harrison Nancy M. , Phillips R. A. , Pugh P. J. A.
Published: August 2010

The global decline of albatrosses (Diomedidae: Procellariiformes) is thought to have occurred largely as a direct result of fishery‐related mortality. Albatrosses and other large petrels interact with fisheries in several ways, including scavenging used bait and discarded offal, which may contain hooks.

Hooks that are ingested by breeding birds are often fed to chicks which subsequently regurgitate them shortly before fledging.

In this study a series of mathematical (cladistic, cluster and principal components) analyses are applied to a sample of 241 items of fishing gear (hook, snood and hook/snood unit) collected from seabird nest sites on Bird Island, South Georgia, and 44 reference gear items provided by four South Atlantic regional fisheries.

The five separate analyses failed to assign most gear to a particular fishery or to identify any consistent annual trends. The homogeneous nature of the material, which was largely derived from the same manufacturers, meant that gear origin could not be determined. This suggests that hooks found at seabird colonies in this, and potentially other regions, will be of limited use in identifying offending fisheries, unless operators are obliged to deploy gear with unique marks in the future.

Nevertheless, it is suggested that this approach should work effectively where birds interact with a range of fisheries targeting different species using variable gear. This study therefore represents an innovative approach to the characterization of lost fishing gear with potentially widespread application. Copyright © 2010 John Wiley & Sons, Ltd.
Guaranteed cost PID control for uncertain discrete‐time stochastic systems with additive gain perturbations
Authors: Mukaidani Hiroaki
Published: August 2010

This paper investigates a novel design method for robust nonfragile proportional‐integral‐derivative (PID) control that is based on the guaranteed cost control (GCC) problem for a class of uncertain discrete‐time stochastic systems with additive gain perturbations. On the basis of linear matrix inequality (LMI), a class of fixed PID controller parameters is obtained, and some sufficient conditions for the existence of the GCC are derived. Although the additive gain perturbations are included in the feedback systems, both the stability of closed‐loop systems and adequate cost bound are attained. As a sequel, decentralized GCC PID for a class of discrete‐time uncertain large‐scale stochastic systems is also considered. Finally, the numerical results demonstrate the efficiency of the proposed controller synthesis.

Copyright © 2010 John Wiley and Sons Asia Pte Ltd and Chinese Automatic Control Society
A new paradigm in cell therapy for diabetes: Turning pancreatic α‐cells into β‐cells
Authors: Sangan Caroline B. , Tosh David
Published: August 2010

Cell therapy means treating diseases with the body's own cells. One of the cell types most in demand for therapeutic purposes is the pancreatic β‐cell. This is because diabetes is one of the major healthcare problems in the world. Diabetes can be treated by islet transplantation but the major limitation is the shortage of organ donors. To overcome the shortfall in donors, alternative sources of pancreatic β‐cells must be found. Potential sources include embryonic or adult stem cells or, from existing β‐cells. There is now a startling new addition to this list of therapies: the pancreatic α‐cell. Thorel and colleagues recently showed that under circumstances of extreme pancreatic β‐cell loss, α‐cells may serve to replenish the insulin‐producing compartment. This conversion of α‐cells to β‐cells represents an example of transdifferentiation. Understanding the molecular basis for transdifferentiation may help to enhance the generation of β‐cells for the treatment of diabetes.
Multivariate one‐sided multiple comparison procedure with a control based on the approximate likelihood ratio test
Authors: Imada Tsunehisa , Yamamoto Yoshiro
Published: August 2010

In this study, we discuss a multiple comparison procedure with a control for multivariate one‐sided test in each pairwise comparison. For pairwise comparisons, we use the approximate likelihood ratio test statistics derived by Tang et al. (An approximate likelihood ratio test for a normal mean vector with nonnegative components with application to clinical trials. Biometrika 1989, 76, 577–583). We derive a formula to determine the critical value for pairwise comparisons satisfying a specified significance level. Furthermore, we formulate the power of the test for our multiple comparison procedure. Finally, we give some numerical examples regarding the critical values and the power of the test.
Enzymatic production of β‐D‐glucose‐1‐phosphate from trehalose
Authors: Van der Borght Jef , Desmet Tom , Soetaert Wim
Published: August 2010

β‐D‐Glucose‐1‐phosphate (βGlc1P) is an efficient glucosyl donor for both enzymatic and chemical glycosylation reactions but is currently very costly and not available in large amounts. This article provides an efficient production method of βGlc1P from trehalose and phosphate using the thermostable trehalose phosphorylase from Thermoanaerobacter brockii. At the process temperature of 60°C, Escherichia coli expression host cells are lysed and cell treatment prior to the reaction is, therefore, not required. In this way, the theoretical maximum yield of 26% could be easily achieved. Two different purification strategies have been compared, anion exchange chromatography or carbohydrate removal by treatment with trehalase and yeast, followed by chemical phosphate precipitation. In a next step, βGlc1P was precipitated with ethanol but this did not induce crystallization, in contrast to what is observed with other glycosylphosphates. After conversion of the product to its cyclohexylammonium salt, however, crystals could be readily obtained. Although both purification methods were quantitative (>99% recovery), a large amount of product (50%) was lost during crystallization. Nevertheless, a production process for crystalline βGlc1P is now available from the cheap substrates trehalose and inorganic phosphate.
New anatomical classification of the axilla with implications for sentinel node biopsy
Authors: Clough K B , Nasr R , Nos C , Vieira M , Inguenault C , Poulet B
Published: August 2010

Background

The exact anatomical location of the sentinel lymph node (SLN) in the axilla has not ascertained clinically, but could be useful both for teaching purposes and to reduce the morbidity of SLN biopsy. The aim of the study was to determine the position of the SLN in the axilla and to demonstrate that this location is not random.

Methods

A consecutive series of 242 patients with stage I breast cancer (T1/T2 N0) or ductal carcinoma in situ who underwent SLN localization by peritumoral injection were included in a prospective study to map the location of the SLN in the axilla. A new anatomical classification of the lower part of the axilla based on the intersection of two anatomical landmarks, the lateral thoracic vein (LTV) and the second intercostobrachial nerve (ICBN), is described. These two constant elements form the basis of four axillary zones (A, B, C and D).

Results

In 98·2 per cent of patients the axillary SLN was located medially, alongside the LTV, either below the second ICBN (zone A, 86·8 per cent) or above it (zone B, 11·5 per cent). In only four patients (1·8 per cent) was the SLN located laterally in the axilla.

Conclusion

Regardless of the site of the tumour in the breast, 98·2 per cent of SLNs were found in the medial part of the axilla, alongside the LTV. This information should help to avoid unnecessary lateral dissections.
Percutaneous transhepatic biliary drainage catheter tract recurrence in cholangiocarcinoma
Authors: Takahashi Y , Nagino M , Nishio H , Ebata T , Igami T , Nimura Y
Published: August 2010

Background

The aim of the study was to clarify the incidence, risk factors and treatment of percutaneous transhepatic biliary drainage (PTBD) catheter tract recurrence in patients with resected cholangiocarcinoma.

Methods

The medical records of 445 patients with perihilar and distal cholangiocarcinoma who underwent resection following PTBD were reviewed retrospectively.

Results

PTBD catheter tract recurrence was detected in 23 patients (5·2 per cent). The mean(s.d.) interval between surgery and onset of the recurrence was 14·4(13·8) months. On multivariable analysis, duration of PTBD (60 days or more), multiple PTBD catheters and macroscopic papillary tumour type were identified as independent risk factors. In four patients with synchronous metastasis, the PTBD sinus tract was resected simultaneously, at the time of initial surgery. Of 19 patients with metachronous metastasis, 15 underwent surgical resection of the metastasis. Survival of the 23 patients with PTBD catheter tract recurrence was poorer than that of the 422 patients without recurrence (median 22·8 versus 27·3 months; P = 0·095). Even after surgical resection of PTBD catheter tract recurrence, survival was poor.

Conclusion

PTBD catheter tract recurrence is not unusual. The prognosis for these patients is generally poor, even after resection. To prevent this troublesome complication, endoscopic biliary drainage is first recommended when drainage is indicated.
Role of ultrasonography in the diagnosis of temporal arteritis
Authors: Ball E L , Walsh S R , Tang T Y , Gohil R , Clarke J M F
Published: August 2010

Background

Temporal artery (TA) biopsy is the current standard for diagnosing temporal arteritis, but has limited sensitivity. Colour duplex ultrasonography is a newer, non-invasive method of diagnosing temporal arteritis.

Methods

A systematic review was performed of trials comparing TA biopsy with duplex ultrasonography. Duplex results (halo sign, stenosis or vessel occlusion) were compared with either TA biospy findings or the American College of Rheumatology research criteria for diagnosing temporal arteritis. Trials were identified from MEDLINE, Embase and the Cochrane Library trials register. The performance of duplex ultrasonography was assessed with weighted independent sensitivity and specificity values, and summary receiver operating characteristic curve analysis.

Results

There were 17 eligible studies containing 998 patients. When the halo sign on duplex imaging was compared with TA biopsy, the sensitivity was 75 (95 per cent confidence interval 67 to 82) per cent and the specificity was 83 (78 to 88) per cent. There was no heterogeneity across the eligible studies.

Conclusion

Duplex ultrasonography was relatively accurate for diagnosing temporal arteritis. It should become the first-line investigation, with biopsy reserved for patients with a negative scan.
Where are they now? tracking the longitudinal evolution of environmental businesses from the 1990s
Authors: Holt Diane
Published: August 2010

In 1991 Steven Bennett published one of the first major publications on the concept of ecopreneurship, business opportunities resulting from the emerging environmental agenda of the late 1980s and early 1990s (Ecopreneuring: the Complete Guide to Small Business Opportunities From the Environmental Revolution. Wiley: New York). Since then a body of literature has developed that explores the idea of the intersection of entrepreneurship with environmentally and socially responsible behaviour. Many of the business cases presented by Bennett represent early adopters of green products, services and emerging eco‐markets. Given the current emphasis on the transformation of business practices towards a more sustainable paradigm it is timely to review these 94 early ecopreneurial examples and consider their status two decades on from the original publication. This paper explores the definitions of environmental and social enterprise, and considers the longitudinal survival of these companies and the emerging trends in consolidation and failure of the sampled companies. Copyright © 2010 John Wiley & Sons, Ltd and ERP Environment.
The safety of children and the parent‐worker relationship in cases of child abuse and neglect
Authors: Howe David
Published: August 2010

Child protection work is complex and demanding and presents both parents and workers with a number of emotional and relationship demands. Although it is recognised that a good working alliance between child protection workers and parents is associated with therapeutic success and service user satisfaction, some current developments, including the growth of an audit culture with its attendant emphasis on targets and performance, appear to undermine the worker's ability to establish good relationships and working alliances. To the extent that poor‐quality working relationships and increased emotional distance reduce the worker's capacity to be empathic, levels of stress for both parents and workers are likely to remain high. Heightened stress reduces the capacity of parents and workers to keep at‐risk children in mind and in focus. This reduces their safety. The paper revisits the value of containment as a way of processing and managing difficult feelings which, along with more recent therapeutic concepts such as mentalisation, encourages workers to keep the parents' feelings in mind as well as hold the child in mind for the parent as a psychological, meaningful and mentalising being. Helping parents think about their feelings and understand, indeed celebrate, their children as burgeoning, independent psychological entities increases understanding, reduces stress and plays a part in helping keep children safe. Copyright © 2010 John Wiley & Sons, Ltd.
Child protection: a survey of psychiatrists' knowledge and attitudes
Authors: Lewington Emma R. , Skilling Gordon D. , Treliving Linda R.
Published: August 2010

The aim of the study was to examine psychiatrists' knowledge of the child protection process and their attitudes toward child protection training. An anonymous questionnaire survey was sent out to all psychiatric staff in a large psychiatric hospital.

The response rate was 72 per cent. Fifty‐seven per cent of respondents had never attended child protection training and 16 per cent thought that it was of no relevance to their position. Significant differences in self‐rated knowledge were identified between those who had attended training and those who had not.

Variations in the availability and quality of child protection training may result in psychiatrists not attaining the core knowledge required in order to work effectively as part of the child protection process. Hospital management should work towards prioritising and disseminating local child protection policies and procedures more effectively and consider routine child protection training as part of any new staff induction. The Royal College of Psychiatrists should consider inclusion of child protection in junior staff education programmes and as part of the MRCPsych examination curriculum. Likewise, consideration should be given to enhancing the status of child protection training in continuing professional development programmes for career‐grade psychiatric staff. Copyright © 2010 John Wiley & Sons, Ltd.
Divergent Heparin‐Induced Fibrillation Pathways of a Prion Amyloidogenic Determinant
Authors: Bazar Ehud , Jelinek Raz
Published: August 2010

Polysaccharides and glycosaminoglycans (GAGs), particularly heparin, have been shown to directly affect fibrillation phenomena and the biological activities of amyloid proteins. We present a systematic analysis of the impact of heparin upon fibrillation of the amyloidogenic determinant of the prion protein PrP(106–126). Experimental data, including thioflavin T fluorescence, transmission electron microscopy, and circular dichroism, demonstrate that heparin induced dramatically diverging aggregation pathways of PrP(106–126). Specifically, enhanced β‐sheet formation of the prion fragment leading to fibril assemblies occurred in solutions containing low heparin/prion mole ratios, while mixtures containing a greater abundance of heparin showed almost complete inhibition of PrP(106–126) fibril formation. Based upon the experimental data we have proposed a unified model accounting for the interplay between the roles of heparin as a scaffold for nucleation and fibril growth on the one hand and as a disruptor of fibrillation through electrostatic affinity with the monomeric peptide units on the other. This study clarifies previous conflicting studies, and concludes that GAGs inhibit fibrillation and amyloid toxicity in some cases, and promote amyloidogenesis in others.
DFT‐Based Coverage‐Dependent Model of Pt‐Catalyzed NO Oxidation
Authors: Getman Rachel B. , Schneider William F.
Published: August 2010

A coverage‐dependent, mean‐field microkinetic model of catalytic NO oxidation, NO+0.5 O2⇌NO2, at a Pt(111) surface has been developed, based on large supercell density functional theory (DFT) calculations. DFT is used to determine the overall energetics and activation energies of candidate reaction steps as a function of surface coverage. Surface coverage is found to have a significant but non‐uniform effect on the energetics, pathways, and activation energies of reaction steps involving formation or cleavage of ONO and OO bonds, and inclusion of this coverage dependence is essential for obtaining a qualitatively correct representation of the catalysis. Correlations are used to express all reaction parameters in terms of a single coverage variableθand steady‐state solutions to the resultant mean‐field models are obtained in the method of DeDonder relations. At conditions representative of NO oxidation catalysis, the surface coverage is predicted to be 0.25≤θ<0.4 ML and to be controlled by equilibrium between gas‐phase NO and NO2and chemisorbed O. O2dissociative adsorption (O2(g)→2O*) is rate limiting in the model. The DFT‐based mean‐field model captures many features of the experimentally observed catalysis, and its short‐comings point the way toward more robust models of coverage‐dependent kinetics.