bluuebunny/crossref_metadata_2025 huggingface dataset:
A Survey of Bio‐Inspired and Other Alternative Architectures
Authors: Hammerstrom Dan
Published: June 2010

Since the earliest days of the electronic computer, a small group of people has always seen the computer as an extension of biology, and endeavored to build computing models and even hardware which are inspired by, and in some cases direct copies of, biological systems. This chapter presents a brief survey of the specialized hardware developed over the past 20 years to support neurobiological models of computation. It includes a brief examination of current efforts and speculates on how such hardware, especially when implemented in nanoscale electronics, might offer unprecedented computing density, possibly leading to new capabilities in computational intelligence. The mix of continued Moore's law scaling, models from computational neuroscience, and molecular‐scale technology portends a potential paradigm shift in how computing is carried out. Among other things, the future of computing is most likely not about discrete logic, but rather about encoding, learning, and performing inference over stochastic variables. There may be a wide range of applications for such devices in robotics, and in the reduction and compression of widely distributed sensor data and power management.
Introduction
Authors: Vogel Viola
Published: June 2010

While fascinating medical applications of engineered nanoparticles are at the forefront of the public perception of how nanotechnologies will change the detection and treatment of disease – as comprehensively reviewed in this volume – even more long‐range medical impact is expected to come from the application of nanotechnology tools to quantify biological processes at the nanoscale. Today, not only can images be taken with steadily improved spatial and temporal resolution; combined with unprecedented abilities to conduct quantitative measurements on biological nanosystems and living cells, we are entering a new era in biomedical sciences. Biologists, physical scientists and engineers have begun to analyze biological nanosystems in action, as well as the factors that cause their malfunction. Never before was it possible to elucidate how the molecular components in cells work together when integrated into complex systems. As enabled by nanotechnologies, the major focus of this introductory chapter – and of the book in its entirety – is to describe selected examples from the forefront of scientific discovery. In this context, it is discussed how this plethora of new tools can be used to distil underpinning mechanisms and engineering design principles that Nature has evolved and uses to build and operate its nanoscale machineries. Most importantly, this finally leads into an exploration as to how these novel insights into the biological nanoworld might provide new solutions for the diagnosis and treatment of diseases.
FromIn VivoUltrasound andMRIImaging to Therapy: Contrast Agents Based on Target‐Specific Nanoparticles
Authors: Wallace Kirk D. , Hughes Michael S. , Marsh Jon N. , Caruthers Shelton D. , Lanza Gregory M. , Wickline Samuel A.
Published: June 2010

Molecular imaging utilizes a novel toolset to enable and expand the role of noninvasive diagnostic imaging from the realm of gross anatomical description to the identification of specific tissue epitopes and observation of biological processes at the cellular level. Until recently, this approach was confined to the field of nuclear imaging; however, advances in nanotechnology have extended this research to include imaging modalities such as ultrasound and magnetic resonance imaging. The application of nanotechnology to magnetic resonance and ultrasound molecular imaging has generated several candidate contrast agents. One multimodality platform – targeted perfluorocarbon nanoparticles – is useful for noninvasive detection with all three imaging modalities, and may additionally be used for local drug delivery.
Harnessing Biological Motors to Engineer Systems for Nanoscale Transport and Assembly*
Authors: Goel Anita , Vogel Viola
Published: June 2010

Living systems use biological nanomotors to build life's essential molecules – such as DNA and proteins–as well as to transport cargo inside cells with both spatial and temporal precision. Each motor is highly specialized and carries out a distinct function within the cell. Some have even evolved sophisticated mechanisms to ensure quality control during nanomanufacturing processes, whether to correct errors in biosynthesis or to detect and permit the repair of damaged transport highways. In general, these nanomotors consume chemical energy in order to undergo a series of shape changes that let them interact sequentially with other molecules. Here we review some of the many tasks that biomotors perform and analyze their underlying design principles from an engineering perspective. We also discuss experiments and strategies to integrate biomotors into synthetic environments for applications such as sensing, transport and assembly.
The Micro‐ and Nanoscale Architecture of the Immunological Synapse
Authors: Dunlop Iain E. , Dustin Michael L. , Spatz Joachim P.
Published: June 2010

In this chapter we discuss the importance of micrometer‐ and nanometer‐scale spatial structuring to cellular signaling in the immunological synapse – the contact region between an antigen‐presenting cell (APC) and a T cell – focusing on the use of artificial biomimetic substrates. Immunological synapses cause the activation of T cells, which is a crucial stage in the adaptive immune response. Recent studies have investigated immunological synapse formation by bringing T cells into contact with surfaces that have been functionalized with peptide‐MHC (p‐MHC) and ICAM‐1, which induce T cell activation and adhesion, respectively. Studies using p‐MHC and ICAM‐1‐functionalized supported lipid bilayers have revealed important structures within the synapse at micrometer and nanometer length scales. Lithographically patterned substrates have been used to induce and control structure formation, providing controlled, realistic models ofin vivoT cell activation. For example, lithographic walls have been used to confine laterally mobile protein molecules to micrometer‐scale areas, mimicking possible effects of the APC cytoskeleton, and cells on lithographically patterned substrates have shown realistic segregation between p‐MHC‐ and ICAM‐1‐binding membrane proteins. Similar investigations will soon be performed on the nanometer scale, most likely using block copolymer nanolithography, which enables surfaces to be patterned with precisely positioned single‐protein molecules. Substrates patterned with single p‐MHC molecules should enable investigation of the effect of p‐MHC clustering on T cell activation. In addition to advancing our understanding of the immunological synapse, micro‐ and nanopatterned T cell‐activating substrates could be used to provide improved T‐cell phenotype control for adoptive T‐cell therapies against cancer.
Scanning Ion Conductance Microscopy of Cellular and Artificial Membranes
Authors: Böcker Matthias , Fuchs Harald , Schäffer Tilman E.
Published: June 2010

Scanning ion conductance microscopy (SICM) is based on an electrolyte‐filled nanopipette that acts as probe for scanning a sample surface in an electrolyte environment. By applying a voltage between the inside and outside of the pipette, an ion current at the nanoampere level through the pipette opening is induced. The dependence of the ion current on the pipette–sample distance allows the recording of sample topography, without mechanical interaction between probe and sample. SICM is therefore well suited to the investigation of ‘soft’ samples, such as cells in a physiological environment. This is demonstrated by imaging living MDCK‐II and rat Schwann cells. Furthermore, nonintrusive imaging of pore‐suspending artificial membranes is demonstrated. Finally, a combination of SICM with other scanning probe techniques allows the recording of local ion conductance independently of the surface topography.
Nanoanalysis by Atom Probe Tomography
Authors: Schmitz Guido
Published: June 2010

Atom probe tomography is a most advanced microscopic analysis technique based on the principle of field ion microscopy. Atoms are individually desorbed from the specimen, identified and localized. From the measured data, the three‐dimensional atomic structure of nanometer‐sized specimens is reconstructed numerically. Significant improvements in the total volume of analysis, in the range of materials that can be investigated, and in specimen preparation have recently broadened the range of possible applications of this method decisively. In this chapter, the physical basis of this exciting nanoanalytical tool is presented in some detail, in order that the reader can appreciate the advantages and limitations of the method. The design of actual instruments is described, and the physics of field desorption and volume reconstruction algorithms are discussed. Application of the method to relevant problems of material physics in nanotechnology is illustrated with case studies.
Time‐Resolved Two‐Photon Photoemission on Surfaces and Nanoparticles
Authors: Aeschlimann Martin , Zacharias Helmut
Published: June 2010

Time‐resolved two‐photon photoemission spectroscopy allows an insight to be gained into ultrafast dynamic surface processes. In this chapter, we first discuss the relaxation dynamics of excited electrons and holes for metals, and also describe the behavior of excitonic states on bandgap materials which show lifetimes well into the microsecond regime. Electron transfer processes to adsorbates are discussed for typical examples. New approaches for photoelectron imaging with time resolution are presented which extend time‐resolved investigations to localized dynamics on nanoparticles. Lifetime maps allow to study exciting prospects of propagation dynamics of surface plasmon polaritons with subfemtosecond resolution. Phase‐ and polarization‐ controlled optical fields also open a new area of nanoscopic dynamic studies with subwavelength spatial and femtosecond time resolution.
Atom Economy – Principles and Some Examples
Authors: Moores Audrey
Published: June 2010

The concept of atom economy was introduced in the early 1990s by Trost and Sheldon to emphasize the importance of minimizing the waste created by chemical reactions. Atom economy can be defined as the reduction, if not the elimination, of all the atoms introduced in the process that do not end up in the desired product. This idea came together with a desire to be able to measure rationally the created waste and several criteria of atom economy were thus grafted. Since then, many new chemical reactions that can be called atom economical have been developed. In this chapter, the context, the principle, the criteria and the tool box of atom economy will be presented. A mini‐review on atom economical processes involving CH activation follows.
Microwave‐Accelerated Homogeneous Catalysis in Water
Authors: Odell Luke R. , Larhed Mats
Published: June 2010

The science of green chemistry was developed to meet the increasing demand for environmentally benign chemical processes. This chapter attempts to give an overview of microwave‐assisted metal‐catalyzed homogeneous transformations in neat water, providing a personal selection of both pioneering and recently published examples. Applications include cross‐couplings, Heck reactions, carbonylations, Sonogashira reactions, nucleophilic substitutions and some additional transformations. We believe that the use of water as a non‐toxic reaction medium, in combination with metal catalysis and microwave heating, will be of importance in the search for green laboratory‐scale synthesis.
Ionic Liquids and Catalysis: theIFPBiphasic Difasol Process
Authors: Olivier‐Bourbigou Hélène , Favre Frédéric , Forestière Alain , Hugues François
Published: June 2010

Optimal exploitation of raw materials, energy saving, and environmental friendliness take nowadays a major place in the development of catalytic processes. This implies better use of raw materials, lower formation of side products and, if possible, simplified separation workup steps. In this economical and environmental context, one most successful approach to bridge the gap between homogeneous and heterogeneous catalysis is multiphasic catalysis. In its simplest version, the catalyst is dissolved in one phase (generally a polar phase) while the products and the substrates mainly remain in the second one. The catalyst can be separated by simple settling and recycled under mild conditions. Ionic liquids have recently emerged as a new class of solvents, offering large opportunities of developments for biphasic (multiphasic) catalysis. In this chapter, the Ni‐catalyzed olefin oligomerization is described. Starting from the original industrial homogeneous Dimersol process, the emergence of the biphasic Difasol system using ionic liquids as the catalyst solvent will be detailed. This biphasic process was designed and developed with the aim of reducing catalyst consumption, waste and chemicals, all in an economical feasible manner.
Organocatalysis
Authors: McCort‐Tranchepain Isabelle , Petit Morgane , Dalko Peter I.
Published: June 2010

Asymmetric organocatalytic reactions are continuing to provide more and more efficient and environmentally friendly synthetic alternatives to metal complex‐mediated reactions. Although substrate dependence remains an important issue, there are increasing numbers of transformations that have reached the standards of current asymmetric reactions.
Single‐Site Heterogeneous Catalysts via Surface‐Bound Organometallic and Inorganic Complexes
Authors: Copéret Christophe
Published: June 2010

This chapter describes the preparation of single‐site catalysts prepared via a molecular approach and their use in various applications such as hydrogenolysis, hydrogenation, hydrosilylation, metathesis (alkane, alkene, alkyne) and oxidation.
High‐pressure Methods and Equipment
Authors: Theyssen Nils , Scovell Katherine , Poliakoff Martyn
Published: June 2010

The sections in this article are

Introduction

Infrastructure for High‐pressure Experiments

Location

Gas Supply, Compression, and Purification

High‐pressure Reactors

Materials of Construction for High‐pressure Reactors

Metal Components

Sealing Materials

Reactor Design

General Considerations

Pressure Vessels for Batch Processing

Continuous Flow Reactors

Auxiliary Equipment and Handling

Tubes and Fittings

Valves

Pressure Transmitter and Manometer

Reactor Heating and Temperature Control

Stirrer Types

Optical Windows

Pressure Safety Valves and Bursting Discs

Online Sampling

Inline Spectroscopic Measurements

Reactor Cleaning

Cleaning with Organic Solvents

Cleaning with Heated Solvents

Cleaning with Acids

Cleaning with a Combination of Organic Solvent and
sc
CO

2

Dosage Under a High‐pressure Regime

Dosage of Gases

Safety Warnings

Dosing in Batch Processes

Dosage for Continuous Flow Processes

Dosage of Liquids

Dosage of Solids

Further Regulations and Control in Flow Systems

Supply Pressure

Reactor Pressure

Flow and Total Volume Measurement of Depressurized Gas Streams

Evaporation and Condensation

Evaporation

Condensation

Complete Reactor Systems for Synthesis with SCFs

Standard Batch Reactor System

Essential equipment

Brief Description of Work Steps

Fully Automated System for Continuous Flow Operation

Conclusion
Coupling Reactions and Separation in Tunable Fluids: Phase Transfer‐Catalysis and Acid‐catalyzed Reactions
Authors: Pollet Pamela , Hallett Jason P. , Eckert Charles A. , Liotta Charles L.
Published: June 2010

The sections in this article are

Introduction

Phase Transfer Catalysis

Background

Phase Transfer Catalysis Quaternary Ammonium Salt‐catalyzed Reactions

PTC
Separation and Recycling Using
CO

2

Near‐critical Water

Definition

Properties

Friedel–Crafts Chemistry in
NCW

Alkylcarbonic Acids

Probing Alkylcarbonic Acids – Alkylcarbonic Acids with Diazodiphenylmethane (
DDM
)

Reactions Using Alkylcarbonic Acids

Ketal Formation

Formation of Diazonium Salts

Conclusion
Green Oxidation in Water
Authors: Sheldon Roger A.
Published: June 2010

Green catalytic oxidations in water are reviewed. Emphasis is placed on the use of the green, readily available oxidants, molecular oxygen, and hydrogen peroxide, although other oxidants receive a cursory mention. Two different strategies for the oxidation of sparingly soluble substrates in an aqueous biphasic medium are delineated. The first involves the use of a phase‐transfer agent to transfer the catalyst and/or the oxidant to the organic phase where the oxidation takes place. Many reactions with water‐soluble oxidants, such as hydrogen peroxide and hypochlorite, are performed in this way. The second strategy employs a water‐soluble catalyst and the oxidation takes place in the water phase. The product is separated as the organic phase and the catalyst, contained in the water phase, is readily recovered and recycled. Many oxidations with molecular oxygen are performed in this mode. These principles are illustrated using epoxidation and dihydroxylation of olefins with hydrogen peroxide, oxidations of alcohols, aldehydes and ketones and sulfoxidations as examples. With regard to catalysts, there is a definite trend towards the use of the inexpensive, environmentally attractive first‐row transition elements, iron, copper, and manganese and organocatalysts, such as the stableN‐oxy radicals. In addition, the use of noble metal nanoclusters, on a support or immobilized in polymer matrices, as catalysts for green oxidations in water is receiving increasing attention. The current trend towards the exploitation of renewable resources, such as carbohydrate feedstocks, will also generate a need for green oxidations in water.
Coupling Reactions in Water
Authors: Leseurre Lucie , Genêt Jean‐Pierre , Michelet Véronique
Published: June 2010

This chapter summarizes recent developments in the field of coupling reactions in organoaqueous media with a focus on representative and historical examples. The first part is dedicated to Grignard‐type reactions including 1,2‐additions to carbonyl derivatives and pinacol couplings. The second part places the stress on selected reactivity of alkenes and alkynes, such as the hydroformylation reaction, Mizoroki–Heck coupling and some cyclization reactions. The final part focuses on more classic coupling reactions, including Tsuji–Trost, Suzuki–Miyaura, Sonogashira, Stille, Hartwig–Buchwald and Hiyama reactions. Special attention is devoted to recyclable organometallic systems, asymmetric catalysis, and the synthetic applications of such reactions
Water as a Green Solvent for Pharmaceutical Applications
Authors: Dunn Peter
Published: June 2010

This chapter reviews the use of water as a green solvent in the manufacture of synthetic drug molecules. The review is separated into four categories:

enzymatic processes;

processes in which the product is isolated by pH adjustment to the isoelectric point;

carbon–carbon bond‐forming cross‐coupling reactions in water; and

pharmaceutical processes using mixed aqueous solvents.

The manufacturing processes of several major pharmaceuticals are discussed, including Crestor, Lipitor, Lyrica, Tamiflu, and Viagra.
Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
Authors: O'Driscoll Mary C. , Jenny Kim , Saitta Sulagna , Dobyns William B. , Gripp Karen W.
Published: June 2010

We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance. © 2010 Wiley‐Liss, Inc.
Amish microcephaly: Long‐term survival and biochemical characterization
Authors: Siu Victoria Mok , Ratko Suzanne , Prasad Asuri N. , Prasad Chitra , Rupar C. Anthony
Published: June 2010

Amish microcephaly (MCPHA, OMIM #607196) is a metabolic disorder that has been previously characterized by severe infantile lethal congenital microcephaly and alpha‐ketoglutaric aciduria. All reported patients have been from the Pennsylvania Amish community and homozygous for a p.Gly177Ala mutation in SLC25A19. We present a further male patient with MCPHA born to distantly consanguineous parents in Ontario, Canada with Amish ancestors. Microcephaly was evident at 21 weeks gestation on ultrasound. At birth, the facial appearance and brain MRI scan were characteristic of MCPHA, with the additional features of partial agenesis of the corpus callosum and a closed spinal dysraphic state. Urine levels of alpha‐ketoglutaric acid were normal at birth and during metabolic crisis, but were markedly elevated during a time of metabolic stability. A severe lactic acidosis was present during metabolic crises and responded to treatment with a high fat diet. At age 7 years, the child is healthy but has severe microcephaly and profound developmental delay. SLC25A19 has been described as a mitochondria inner membrane transporter for both deoxynucleotides and thiamine pyrophosphate (TPP). The biochemical phenotype of MCPHA may be attributable to decreased activity of the three mitochondrial enzymes that require TPP as a cofactor: pyruvate dehydrogenase, alpha‐ketoglutarate dehydrogenase, and branched chain amino acid dehydrogenase. We confirm that alpha‐ketoglutaric aciduria is not a constant finding in MCPHA and suggest that a persistent lactic acidemia may be more common. The diagnosis should be considered in patients with severe congenital microcephaly, especially in association with lissencephaly, dysgenesis of the corpus callosum, or a spinal dysraphic state. © 2010 Wiley‐Liss, Inc.
Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico‐pathological studies
Authors: Carella Massimo , Spreafico Filippo , Palumbo Orazio , Storlazzi Clelia Tiziana , Tabano Silvia , Miozzo Monica , Miglionico Lucia , Calvano Savino , Sindici Giulia , Gamba Beatrice , Impera Luciana , Collini Paola , Zelante Leopoldo , Radice Paolo , Perotti Daniela
Published: June 2010

We report on a boy with three cell lines: 46,XY, r(11)(p15.5,q25)[90]/45,XY,‐11 [8]/47,XY, r(11)(p15.5,q25)x2[2], with minor anomalies and mental retardation who developed asynchronous bilateral Wilms tumors (WTs). Array comparative genomic hybridization (CGH) performed on peripheral blood leukocytes of the patient led to the identification of a constitutional duplication of 4.8 Mb at 11p15.5–11p15.4. This duplication was found to involve the chromosome of paternal origin, and occurred in tandem on the ring chromosome 11. Despite the constitutive duplication of the paternal 11p15 chromosome region, the patient showed no sign of Beckwith‐Wiedemann syndrome. However, the molecular characterization of the two neoplasias was consistent with their independent origin and showed that they arose from the two distinct cellular clones with the ring chromosome, indicating that this anomaly is likely to have caused the patient's susceptibility to WT development. © 2010 Wiley‐Liss, Inc.
A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect
Authors: Bateman Mark S. , Mehta Sarju G. , Willatt Lionel , Selkirk Elizabeth , Bedwell Clare , Zwolinski Simon , Sparnon Leeanne , Simonic Ingrid , Abbott Kristin , Barber John CK
Published: June 2010

Cytogenetically visible imbalances without phenotypic effect are still rare despite the extent of large‐scale copy number variation in the normal population revealed by array CGH. Here we report on a phenotypically normal 30‐year‐old female with a de novo, cytogenetically visible, interstitial deletion of band 4q34. She was referred following three successive miscarriages, one of which was an intra‐uterine death with subendocardial fibroelastosis and dilated cardiomyopathy. There was no other notable medical or family history, she was of normal intelligence and had no dysmorphic features. FISH and Array CGH with a customized 1 Mb BAC array showed that the deletion is a minimum of 9.3 and a maximum of 10.7 Mb in size, between ∼173 Mb in 4q34.1 and ∼182 Mb in 4q34.3. The deletion contains only 23 known coding genes giving a low average gene density of ∼2 genes/Mb. This case further illustrates that (1) sizeable imbalances can be associated with apparent phenotypic normality, (2) gene density is a better guide to possible phenotypic consequences than aberration size, and (3) it is not always safe to assume that de novo imbalances will be causal. © 2010 Wiley‐Liss, Inc.
Steinfeld syndrome: Further delineation
Authors: Stevens Cathy A.
Published: June 2010

Steinfeld syndrome, which was first reported in 1982, is characterized by holoprosencephaly, phocomelia, clefting, congenital heart defects, and other anomalies. There have been two additional reports since then. This report describes a fetus with clinical features consistent with Steinfeld syndrome and it is the first patient with this condition to have extensive genetic evaluation. This appears to be an autosomal dominant syndrome with widely variable expression. The clinical features of this syndrome are reviewed. © 2010 Wiley‐Liss, Inc.
A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification
Authors: Asakura Yumi , Narumi Satoshi , Muroya Koji , Fujita Kazutoshi , Aida Noriko , Hasagawa Tomonobu , Adachi Masanori
Published: June 2010

Biallelic mutations of SLC26A4 (encoding pendrin) cause Pendred syndrome (PS), an autosomal recessive genetic disorder with deafness and goiter. The mechanism underlying the development of the goiter is unknown. Here, we report clinical and molecular findings of a patient with PS. This 27‐year‐old woman was born to nonconsanguineous healthy parents. She was seen at our hospital due to hearing loss at age 3 years, and subsequently developed goiter at age 10 years. From age 15 years, her thyroid gland showed progressive enlargement accompanied by elevation of serum thyroglobulin reaching 10‐fold the normal amount. Thyroidal iodine uptake was also increased during goiter progression (123I uptake at 24 hr: 20.2% at age 17 years; 69.4% at age 24 years; reference, 8–40), while serum thyrotropin (TSH) levels and iodine organification (examined by the perchrolate or thiocyanate discharge test) remained normal. We sequenced SLC26A4 using standard PCR‐based technique, and found one novel (p.T537P) and one recurrent (p.H723R) mutations in a compound heterozygous state. Expression experiments using COS‐7 cells showed that the two mutants were entrapped in the endoplasmic reticulum and were poorly localized at the plasma membrane. In summary, a molecularly confirmed PS patient showed goiter progression accompanied by elevated serum thyroglobulin and increased thyroidal iodine uptake, but normal serum TSH levels and normal iodine organification. This implies that some pendrin mutations may involve direct stimulation of thyroid cell proliferation with no TSH hyperstimulation and no iodine organification defect. © 2010 Wiley‐Liss, Inc.
Sirenomelia and VACTERL association in the offspring of a woman with diabetes
Authors: Castori Marco , Silvestri Evelina , Cappellacci Sandra , Binni Francesco , Sforzolini Giovanna Scassellati , Grammatico Paola
Published: June 2010

Sirenomelia and VACTERL association are defects of blastogenesis of unknown cause. Although they appear clinically distinct, some epidemiological and experimental studies suggest a common pathogenetic mechanism. We report on the reproductive history of a 28‐year‐old obese, diabetic mother who had three pregnancies. The first resulted in the birth of a sirenomelic child, the second in a miscarriage, while the third was terminated for fetal malformations, diagnosed post‐mortem as VACTERL association. This observation supports the relationship between sirenomelia and VACTERL, which probably represent the two ends of the same phenotypic spectrum. Their occurrence in the same sibship also indicates a possible common cause. The coexistence with maternal diabetes seems more than a chance occurrence and the constellation of malformations observed in the present family may be explained as the pleiotropic effect of the same teratogenic agent interacting with genetic predisposition to diabetes and/or obesity. © 2010 Wiley‐Liss, Inc.
Mixed gonadal dysgenesis in a child with isodicentric y chromosome: Does the relative proportion of the 45,X line really matter?
Authors: Shinawi Marwan , Cain Mark P. , VanderBrink Brian A. , Grignon David J. , Mensing Drew , Cooper M. Lance , Bader Patricia , Cheung Sau Wai
Published: June 2010

Isodicentric Y chromosomes [idic(Y)] cause several sex‐linked phenotypes ranging from typical Turner syndrome, to phenotypic males, and to those with ambiguous genitalia. The idic(Y) are unstable during mitosis and therefore result in mosaicism with an additional cell line. The associated phenotypic heterogeneity was attributed to variable location of the breakpoints and to the proportion of idic(Y)‐containing cells in gonads and other tissues. We report on a phenotypic and cytogenetic characterization of an apparently male patient with ambiguous genitalia and mixed gonadal dysgenesis who was found to be mosaic 45,X/46,X,idic(Y). Unexpectedly, the histologically male gonad showed a predominant proportion of 45,X cells suggesting that additional factors, other than the proportion of the 45,X cell line and the location of the breakpoint, may play a role in gonadal determination and differentiation. Our observation suggests that the timing of the mitotic loss of idic(Y) during gonadal ontogenesis and the proportion of SRY positive pre‐Sertoli cells in the gonad are probably more relevant than the postnatal proportion of the different mosaic clones. We discuss the dynamic nature of mitotic instability of isodicentric Y chromosomes and the fundamental role of Sertoli cells in gonadal differentiation and their contribution to the phenotypic variability. © 2010 Wiley‐Liss, Inc.
Metopic craniosynostosis due to mutations inGLI3: A novel association
Authors: McDonald‐McGinn Donna M. , Feret Holly , Nah Hyun‐Duck , Bartlett Scott P. , Whitaker Linton A. , Zackai Elaine H.
Published: June 2010

We report on the novel association of trigonocephaly and polysyndactyly in two unrelated patients due to mutations within the last third (exon 14) and first third (exon 6) of theGLI3gene, respectively.GLI3acts as a downstream mediator of the Sonic hedgehog signal‐transduction pathway which is essential for early development; and plays a role in cell growth, specialization, and patterning of structures such as the brain and limbs.GLI3mutations have been identified in patients with Pallister–Hall, Grieg cephalopolysyndactyly syndrome (GCPS), postaxial polydactyly type A1, preaxial polydactyly type IV, and in one patient with acrocallosal syndrome (ACLS). Furthermore, deletions including theGLI3gene have been reported in patients with features of GCPS and ACLS. To date, trigonocephaly has not been associated with abnormalities ofGLI3and craniosynostosis is not a feature of GCPS. However, Hootnick and Holmes reported on a father with polysyndactyly and son with trigonocephaly, polysyndactyly, and agenesis of the corpus callosum, considered GCPS thereafter. Guzzetta et al. subsequently described a patient with trigonocephaly, polysyndactyly, and agenesis of the corpus callosum postulating a diagnosis of GCPS, later considered ACLS. In retrospect, these two patients, evaluated prior to mutational analysis, and our patients, with confirmed mutations, likely fall within theGLI3morphopathy spectrum and may provide a bridge to better understanding those patients with overlapping features of GCPS and ACLS. Based on this observation, we suggestGLI3studies in patients presenting with this constellation of findings, specifically metopic craniosynostosis with polysyndactyly, in order to provide appropriate medical management and genetic counseling. © 2010 Wiley‐Liss, Inc.
Highly efficient and selective transport of Hg2+ ions through a bulk liquid membrane containing Cyanex 301 as carrier
Authors: Madaeni S. S. , Islami N. , Rofouei M. K. , Ghader M.
Published: June 2010

Mercury is present in various forms in many industrial wastewaters, and in some natural water sources. In this work, a novel bulk liquid membrane (BLM) system containing bis(2,4,4‐trimethyl(pentyl)dithiophosphinic acid (Cyanex 301) as carrier was evaluated for mercury transport and recovery of the ions from acidic nitrate solutions. Cyanex 301 acts as an efficient and selective carrier for the uphill transport of Hg(II) through a chloroform bulk liquid membrane. The selectivity and efficiency of Hg(II) transport from aqueous solutions containing different mixtures of cations were investigated. The fundamental parameters influencing the transport of mercury ion such as concentration of nitric acid in the feed solution, carrier concentrations in the membrane, type of organic solvent, nature and composition of the receiving phase, stirring speed and transport time were determined. Most of the Hg(II) ions (89%) penetrated through the bulk liquid membrane after 120 min using 0.04 M Cyanex 301 in the membrane phase and 5 M HNO3 in the receiving phase. However, the maximum transport (93%) occurred after 140 min at a stirring speed of 200 rpm in the feed and stripping solutions. The present study demonstrates the effectiveness of the bulk liquid membrane system for separating Hg(II) ions in amalgam solutions by combining extraction and stripping operations in a single process. Copyright © 2010 Curtin University of Technology and John Wiley & Sons, Ltd.
Wall properties and slip effects on the magnetohydrodynamic peristaltic motion of a viscous fluid with heat transfer and porous space
Authors: Hayat T. , Javed Maryiam
Published: June 2010

Peristaltic flows are important for understanding the transport of fluids, especially blood flow, in physiological systems and in biomedical instruments. Several studies have considered the peristaltic flows of Newtonian and non‐Newtonian fluids with one or more simplifying assumptions, and for peristaltic flows in biomechanics applications such as magnetohydrodynamic (MHD) pumps and blood flow. This paper presents a theoretical study of the effects of slip conditions and wall properties on the MHD peristaltic flow of a viscous fluid filling the porous space in a channel. The heat transfer analysis is also presented. The analytical solutions of the stream function, velocity and temperature distributions are constructed in closed form under long wavelength and low Reynolds number approximations. The effects of various influential key parameters and groups are reported and discussed. Copyright © 2010 Curtin University of Technology and John Wiley & Sons, Ltd.
A comparative study of two high cell density methanogenic bioreactors
Authors: Ahammad Sk. Z. , Gomes J. , Sreekrishnan T. R.
Published: June 2010

Methanogenesis is usually the rate‐limiting step in the anaerobic digestion process. The slow growth rates of methanogens make the overall treatment processes slow. Use of anaerobic high cell density reactors is a promising option for increasing the overall rate of conversion. Anaerobic fluidized bed reactors (AFBRs) work on the principle of high cell density. Although better mixing is achieved in AFBR, entrainment of bio‐granules and higher pumping cost are some of the major drawbacks of the reactor. A hybrid anaerobic reactor (HAR) incorporates the positive aspects of the AFBR while eliminating most of its shortcomings. The performance of a HAR was studied and compared with the performance of an AFBR for the treatment of the same simulated waste water. The AFBR had equal amount of activated charcoal/pumice stone as the carrier material. After 240 days of operation, 38.1%, 32.3% and 29.6% acetate conversions were obtained in the HAR, AFBR with activated charcoal and AFBR with pumice stone, respectively. The gas was found to have 59.2%, 45.7% and 50.2% methane content in the case of HAR, AFBR with pumice stone and AFBR with activated charcoal, respectively. HAR showed consistently better performance when compared with either of the AFBR. Surface charge difference between methanogens and support material also showed that the methanogens preferred activated charcoal over pumice stone. Scanning electron microscope (SEM) studies showed that the self‐immobilized bio‐granules from the HAR were more compact (and stable). Granules from the AFBR did not have a dense bio‐film like the ones from the HAR. Copyright © 2010 Curtin University of Technology and John Wiley & Sons, Ltd.
Modeling and transport parameters during nanofiltration of degreasing effluent from a tannery
Authors: Prabhavathy C. , De S.
Published: June 2010

Degreasing effluent from a tannery is treated using a single‐step membrane separation (nanofiltration) process in continuous cross‐flow mode. The flow regimes encompass the laminar and turbulent zones, including laminar flows with turbulent promoters. Experimental results are reported in the range of transmembrane pressure drop from 828 to 1242 kPa for all three flow regimes. More than 50% flux enhancement is observed by using turbulent promoters compared to purely laminar flow. The performance criteria of the filtration are evaluated in terms of chemical oxygen demand (COD), total dissolved solids (TDS), total solids (TS), pH and conductivity of the permeate. The proposed scheme successfully reduces COD to well below the permissible limits (250 mg/l). A combination of osmotic pressure and solution‐diffusion model is used for nanofiltration. Three relevant transport coefficients, namely, the effective osmotic coefficient, solute diffusivity and solute permeability through the membrane are estimated by minimising the sum of errors between the experimental and calculated permeate flux and permeate concentrations. Copyright © 2010 Curtin University of Technology and John Wiley & Sons, Ltd.
Is Length an Appropriate Estimator to Characterize Pulmonary Alveolar Capillaries? A Critical Evaluation in the Human Lung
Authors: Mühlfeld Christian , Weibel Ewald R. , Hahn Ute , Kummer Wolfgang , Nyengaard Jens R. , Ochs Matthias
Published: June 2010

Stereological estimations of total capillary length have been used to characterize changes in the alveolar capillary network (ACN) during developmental processes or pathophysiological conditions. Here, we analyzed whether length estimations are appropriate to describe the 3D nature of the ACN. Semi‐thin sections of five human lungs, previously investigated by Gehr et al. (Respir Physiol 1978; 32:121–140), were used to estimate alveolar capillary length using a “design‐based” or a “model‐based” stereological approach. The design‐based approach involves counting of capillary profiles related to a defined area of the reference space. The model‐based approach bases on the assumption that capillaries are round tubes and length was calculated from capillary volume and surface area. The model‐based approach provided a mean of 6,950 km (SD: 3,108 km) for total capillary length, the design‐based approach resulted in a mean of 2,746 km (SD: 722 km). Because of the geometry of the ACN both approaches carry an unpredictable bias. The bias incurred by the design‐based approach is proportional to the ratio between radius and length of the capillary segments in the ACN, the number of branching points and the winding of the capillaries. The model‐based approach is biased because of the real noncylindrical shape of capillaries and the network structure. In conclusion, the estimation of the total length of capillaries in the ACN cannot be recommended as the geometry of the ACN does not fulfill the requirements for stereological length estimation. Until new methods are being developed, the unbiased estimates of capillary volume, and surface area should be preferred. Anat Rec, 293:1270–1275, 2010. © 2010 Wiley‐Liss, Inc.
A technique to perfuse cadavers that extends the useful life of fresh tissues: The Duke experience
Authors: Messmer Caroline , Kellogg Ryan T. , Zhang Yixin , Baiak Andresa , Leiweke Clinton , Marcus Jeffrey R. , Levin L. Scott , Zenn Michael R. , Erdmann Detlev
Published: June 2010

The demand for laboratory‐based teaching and training is increasing worldwide as medical training and education confront the pressures of shorter training time and rising costs. This article presents a cost‐effective perfusion technique that extends the useful life of fresh tissue. Refrigerated cadavers are preserved in their natural state for up to 45 days with a daily working period of ten hours. Tissues maintain their color and natural consistency throughout this period. This new process for preservation of tissue opens the door to improved surgical training and to numerous research opportunities. Anat Sci Educ. © 2010 American Association of Anatomists.
Rational Protein Design of Paenibacillus barcinonensis Esterase EstA for Kinetic Resolution of Tertiary Alcohols
Authors: Bassegoda Arnau , Nguyen Giang‐Son , Schmidt Marlen , Kourist Robert , Diaz Pilar , Bornscheuer Uwe T.
Published: June 2010

Protein engineering is a very powerful tool to optimize enzymes for specific applications and thus provide important chiral building blocks such as tertiary alcohols. By use of structural comparisons, esterase from Paenibacillus barcinonensis (EstA) was engineered to convert tertiary alcohol esters with excellent enantioselectivity. Whereas the wild‐type enzyme converts 1,1,1‐trifluoro‐2‐phenylbut‐3‐yn‐2‐yl acetate with very low activity and enantioselectivity (E=12, at 4 °C), several mutants show a significantly increased enantioselectivity, for example E>100 for mutant EstA–AGA, under the same reaction conditions. Furthermore, the range of tertiary alcohols obtained in enantiopure form was also broadened for EstA mutants.
Biocatalytic Reductions and Chemical Versatility of the Old Yellow Enzyme Family of Flavoprotein Oxidoreductases
Authors: Toogood Helen S. , Gardiner John M. , Scrutton Nigel S.
Published: June 2010

The old yellow enzyme (OYE) family is a large group of flavin‐dependent redox biocatalysts with major applications in the industrial reduction of activated alkenes. These enzymes have broad specificity, are relatively stable, and have been made available in large quantities by using conventional genetic methods. The catalytic cycle comprises two half‐reactions: reduction of flavin mononucleotide by NAD(P)H followed by flavin oxidation through stereospecific reduction of the CC bond of a wide range of activated alkenes. Recent years have witnessed extensive investigation of these reactions, aided by knowledge of atomic resolution structures for selected family members. In turn, this has led to deep understanding of the stereochemical course of substrate reduction and expansion of the biocatalytic versatility of this enzyme family through engineering approaches. We provide an overview of the structures, mechanisms, and chemical specificity of the reactions catalyzed by the OYE members. We provide an overview of the biocatalytic potential of this family of enzymes and illustrate the value of combining mechanistic and structural studies of biocatalysts to guide future exploitation of these enzymes in industrial biocatalysis.
The Mechanism of Water Oxidation: From Electrolysis via Homogeneous to Biological Catalysis
Authors: Dau Holger , Limberg Christian , Reier Tobias , Risch Marcel , Roggan Stefan , Strasser Peter
Published: June 2010

Striving for new solar fuels, the water oxidation reaction currently is considered to be a bottleneck, hampering progress in the development of applicable technologies for the conversion of light into storable fuels. This review compares and unifies viewpoints on water oxidation from various fields of catalysis research. The first part deals with the thermodynamic efficiency and mechanisms of electrochemical water splitting by metal oxides on electrode surfaces, explaining the recent concept of the potential‐determining step. Subsequently, novel cobalt oxide‐based catalysts for heterogeneous (electro)catalysis are discussed. These may share structural and functional properties with surface oxides, multinuclear molecular catalysts and the catalytic manganese–calcium complex of photosynthetic water oxidation. Recent developments in homogeneous water‐oxidation catalysis are outlined with a focus on the discovery of mononuclear ruthenium (and non‐ruthenium) complexes that efficiently mediate O2 evolution from water. Water oxidation in photosynthesis is the subject of a concise presentation of structure and function of the natural paragon—the manganese–calcium complex in photosystem II—for which ideas concerning redox‐potential leveling, proton removal, and OO bond formation mechanisms are discussed. The last part highlights common themes and unifying concepts.
ChemInform Abstract: Crystallographic Data for New Ternary UCo5Si3‐Type LnRh5Si3 (Ln: Sm, Gd—Tm) Compounds.
Authors: MOROZKIN A. V. , SEROPEGIN Y. D. , SVIRIDOV I. A. , BODAK O. I.
Published: June 2010

ChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: The Crystal Structure of AuMnSn.
Authors: NEUMANN A. , OFFERNES L. , KJEKSHUS A. , KLEWE B.
Published: June 2010

ChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Crystal Structure and Properties of Ba5Fe4Ti10O31.
Authors: SIEGRIST T. , VANDERAHB T. A. , RAMIREZ A. P. , GEYER R. G. , ROTH R. S.
Published: June 2010

ChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Crystal Structure of Nd4Fe1.3Ge7.5
Authors: ZENG L. , FRANZEN H. F.
Published: June 2010

ChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Mg(H2PO4)2×4H2O.
Authors: MIYAKE M. , MATSUDA N. , SATO S. , MATSUDA M. , NAKAGAWA S. , OCHIAI J.
Published: June 2010

ChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: New Compounds Containing the Complex Anion [Ta2S11]4‐; A4Ta2S11 (A: Rb, Cs).
Authors: DUERICHEN P. , BENSCH W.
Published: June 2010

ChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Hexamolybdenum Octatelluride, Mo6Te8.
Authors: MILLER G. J. , SMITH M.
Published: June 2010

ChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.