bluuebunny/crossref_metadata_2025 huggingface dataset:
Gaining more from doing less? The effects of a one-week deload period during supervised resistance training on muscular adaptations
Authors: Coleman Max , Burke Ryan , Augustin Francesca , Piñero Alec , Maldonado Jaime , Fisher James P. , Israetel Michael , Androulakis Korakakis Patroklos , Swinton Paul , Oberlin Douglas , Schoenfeld Brad J.
Published: January 2024

Background

Based on emerging evidence that brief periods of cessation from resistance training (RT) may re-sensitize muscle to anabolic stimuli, we aimed to investigate the effects of a 1-week deload interval at the midpoint of a 9-week RT program on muscular adaptations in resistance-trained individuals.

Methods

Thirty-nine young men (n = 29) and women (n = 10) were randomly assigned to 1 of 2 experimental, parallel groups: An experimental group that abstained from RT for 1 week at the midpoint of a 9-week, high-volume RT program (DELOAD) or a traditional training group that performed the same RT program continuously over the study period (TRAD). The lower body routines were directly supervised by the research staff while upper body training was carried out in an unsupervised fashion. Muscle growth outcomes included assessments of muscle thickness along proximal, mid and distal regions of the middle and lateral quadriceps femoris as well as the mid-region of the triceps surae. Adaptions in lower body isometric and dynamic strength, local muscular endurance of the quadriceps, and lower body muscle power were also assessed.

Results

Results indicated no appreciable differences in increases of lower body muscle size, local endurance, and power between groups. Alternatively, TRAD showed greater improvements in both isometric and dynamic lower body strength compared to DELOAD. Additionally, TRAD showed some slight psychological benefits as assessed by the readiness to train questionnaire over DELOAD.

Conclusion

In conclusion, our findings suggest that a 1-week deload period at the midpoint of a 9-week RT program appears to negatively influence measures of lower body muscle strength but has no effect on lower body hypertrophy, power or local muscular endurance.
The Mental Well-Being of Canadian Young Adults Versus Older Adults Before, During, and After Covid-19’s First Wave: Do Sociodemographic Characteristics Matter?
Authors: Descary Guillaume , Olivier Elizabeth , Thouin Éliane , Arim Rubab , Dupéré Véronique , Archambault Isabelle , Tardif-Grenier Kristel
Published: January 2024

Using a series of nationally representative cross-sectional surveys, this study shows that younger Canadian adults (aged 18–34) rated their own mental health positively (as “very good” or “excellent”) less often than older adults (i.e., 35+), both before and during the pandemic. Also, younger adults’ positive mental health ratings declined particularly sharply following the onset of the pandemic, with declines of more than 25 percent between the pre-pandemic (60.9% [95% CI 59.3-62.4]), and the pandemic (e.g., 43.8% [95% CI 38.7-49.0]) periods. Young adult women appeared particularly vulnerable, but immigrant youth showed signs of resilience.
The Study of the Effect of Surfactants on Copper Codeposition with SiC Nano Particulate from Deep Eutectic Solvent Ionic Liquids (Ethaline)
Authors: Ttaib K. El , Benhmid A.
Published: January 2024

Here we investigate the electrolytic deposition of copper and copper nano composites in the absence and the presence of two types of surfactants: cationic which is sodium dodecyl sulphate (SDS)  and the other type is cetyl  trimethyl ammonium bromide (CTAB) from a solution of the metal chloride salt in ethylene glycol–choline chloride based eutectics. The SEM images and EDAX analysis allow in situ quantification or particulate inclusion. It is quite interesting to perceive that the composition of composite material was strongly dependent on the amount of species suspended in solution. Again the data here has revealed that the majority of material was dragged onto the surface rather than settling on to it. The distribution of the composite material was found to be even throughout the coating. This technology is important because it facilitates deposition of bright copper coatings without co-ligands such as cyanide which is not friendly environment.
Analysing Decadal Land Use Land Cover Dynamics in the Sub-Upper Krishna Basin of Maharashtra, India Using Remote Sensing and GIS
Authors: Karale Omkar Sunil , Gavit B. K. , Bhat Adarsha Gopalakrishna , Paradkar Vinayak , Mukherjee Sweety , Gupta Anand
Published: January 2024

Aims: This study was conducted to examine Land Use Land Cover (LULC) dynamics in Maharashtra’s sub-upper Krishna basin from 2009 to 2019 using remote sensing and geographical information system (GIS), focusing on water bodies, vegetation, soil, settlements, and their changes.

Study Design: Employing remote sensing and GIS for LULC mapping (2009-2019) the study used a maximum likelihood classifier in supervised classification, identifying six land use categories: water bodies, open shrubs, forests, agricultural land, settlements, and fallow land.

Place and Duration of Study: It was conducted in the sub-upper Krishna basin, Maharashtra, over ten years’ data (2009-2019).

Methodology: The study utilised satellite remote sensing and GIS tools for LULC mapping. A supervised classification was applied with a maximum likelihood classifier to categorize land. The changes in water bodies, open shrubs, forests, agricultural land, settlements, and fallow land were analysed using GIS approach.

Results: It was seen that, over the decade, fallow land decreased by 3.03%, while agricultural land and settlements grew by 7.32% and 4.3%, respectively. Tree cover increased by 9.85%, water bodies by 0.93%, and open scrubland decreased by 1.77%. Institutional factors, easier water access, and technological and economic factors drove these changes.

Conclusion: The study advocates the effective use of satellite remote sensing to monitor LULC changes, identifying key drivers, including institutional and technological factors, contributes to sustainable development planning. The findings aid predictions for future land use changes, supporting effective land management and conservation strategies in the region.
Evidence about playing in the hospital from the perspective of the child's family: integrative review / Evidências acerca do brincar no hospital na perspectiva do familiar da criança: revisão integrativa
Authors: Depianti Jéssica Renata Bastos , Valadares Bezerra Juli , Menezes de Paula Larissa , Nunes Ferreira Mayara Cristina , Melo de Castro Flávia , Faria da Silva Liliane
Published: January 2024

Objetivo: identificar estudos na literatura nacional e internacional acerca do brincar no hospital na perspectiva do familiar da criança. Método: revisão Integrativa realizada no período de março a maio de 2022, nas fontes de informações: Scielo; LILACS e BDENF via BVS; MEDLINE via PUBMED; Scopus e o Google Scholar como estratégia adicional. Foram incluídos artigos originais, nos idiomas inglês, português e espanhol; sem recorte temporal; e que tivessem como participantes familiares e/ou acompanhantes de crianças hospitalizadas. Resultados: as famílias reconhecem o brincar como promotor na redução da ansiedade das crianças frente aos procedimentos invasivos, além de auxiliar no enfrentamento da hospitalização e na melhora do humor e comportamento delas. Também destacaram a brinquedoteca hospitalar como um importante espaço que promove distração e continuidade do desenvolvimento. Conclusão: a partir da perspectiva dos familiares acerca do brincar, a equipe de enfermagem deve incentiva-las serem coparticipante dessa atividade durante a hospitalização da criança.
Professional Development in Higher Education
Authors: Brancato Vera C.
Published: June 2003

This chapter looks at the challenges that higher education faculty are facing and explains how development activities that recognize faculty as adult learners in a learning organization can provide a more successful educational experience for both them and their students.
Professional Development in Corporate Training
Authors: Meyer Susan R. , Marsick Victoria J.
Published: June 2003

This chapter looks at the new demands on trainers in corporate settings and provides examples that illustrate the skills and abilities that should become part of their professional development. It concludes with recommendations based on principles of adult learning and organization development.
Teachers as Adult Learners: A New Perspective
Authors: Lawler Patricia A.
Published: June 2003

As professional developers, it is imperative that we view the teacher of adults as an adult learner and the professional development activity as adult learning. This chapter presents the Adult Learning Model for Faculty Development for implementation with teachers of adults.
Transformative Learning as a Professional Development Goal
Authors: Cranton Patricia , King Kathleen P.
Published: June 2003

From the framework of transformative learning, this chapter explores how professional development can lead educators to be authentic, individuated, critically reflective practitioners. Practical strategies are provided.
Enzymatic Discrimination of 2‐Acetamido‐2‐deoxy‐D‐mannopyranose‐Containing Disaccharides Using β‐N‐Acetylhexosaminidases
Authors: Hušáková Lucie , Herkommerová‐Rajnochová Eva , Semeňuk Tomáš , Kuzma Marek , Rauvolfová Jana , Přikrylová Věra , Ettrich Rüdiger , Plíhal Ondřej , Bezouška Karel , Křen Vladimír
Published: June 2003

Abstract: β‐N‐Acetylhexosaminidase from Aspergillus oryzae selectively discriminates mixture of the disaccharides GlcNAcβ(1→4)GlcNAc (1) and GlcNAcβ(1→4)ManNAc (2). N,N′‐Diacetylchitobiose (1) was selectively hydrolyzed by β‐N‐acetylhexosaminidase, whereas its C‐2 epimer (2) was completely resistant to the enzyme hydrolysis. Analogous discrimination was observed also with GalNAcβ(1→4)GlcNAc (3) and GalNAcβ(1→4)ManNAc (4). β‐N‐Acetylhexosaminidases from A. terreus, A. flavus, bovine kidney and bovine epididymis displayed the same selectivity, whereas the enzymes from A. sojae, A. tamarii, Penicillium brasilianum, P. oxalicum, P. funiculosum, P. multicolor, Talaromyces flavus and jack beans hydrolyzed both types of disaccharides. Molecular modelling of β‐N‐acetylhexosaminidase from A. oryzae CCF 1066 and docking experiments with both types of disaccharides revealed that the ManNAc residue causes distortion of disaccharide molecule resulting in a steric conflict with a Trp482 that causes diminished stabilization of the oxazolinium transition state by extending the distance of Asp345 in the active site. Both ManNAc‐containing disaccharides 2 and 4 dock with similar steric energies into the active site but without cleaving and also without notable inhibition. This novel phenomenon enables also the preparative production of both disaccharides 2 and 4 starting from N, N'‐diacetylchitobiose (1) or GalNAcβ(1→4)GlcNAc (3) followed by Lobry de Bruyn–Albreda van Ekenstein C‐2 epimerization catalyzed by Ca(OH)2. The resultant mixture of the respective epimers 1, 2 or 3, 4 that is hardly separable by, e.g., analytical HPLC can be treated with the β‐N‐acetylhexosaminidase from A. oryzae and the mixture of monosaccharides and target disaccharide can be easily separated using gel filtration.
Enantiomerically Pure Octahydronaphthalenone and Octahydroindenone: Elaboration of the Substrate Overcame the Specificity of Yeast‐Mediated Reduction
Authors: Fuhshuku Ken‐ichi , Tomita Mina , Sugai Takeshi
Published: June 2003

Substrate specificity on the reduction of bicyclic diketones with a yeast strain, Torulaspora delbrueckii IFO10921, was investigated. Although this yeast efficiently reduces the isolated carbonyl group involved in the (S)‐enantiomer of Wieland–Miescher ketone with high enantioselectivity (E=126), the introduction of a substituent on the octahydronaphthalene skeleton as well as the structural change into an octahydroindene skeleton retarded the enzymatic reduction and the enantioselectivity fell to E=5–16. Further structural variation into a bicyclo[3.3.0] skeleton led to an exclusive 1,4‐conjugate reduction of the α,β‐unsaturated carbonyl group, and the above results suggested the participation of plural oxidoreductive enzymes in the whole cell. In turn, among the 2,2‐disubstituted cycloalkanediones there were found good substrates to give the corresponding hydroxy ketone equivalents by yeast‐mediated reduction. The products were isolated as cyclic hemiacetals, such as (1S,6S)‐3‐ethyl‐3‐hydroxy‐6‐methyl‐2‐oxabicyclo[4.4.0]decan‐7‐one and (1S,6S)‐3‐hydroxy‐3,6‐dimethyl‐2‐oxabicyclo[4.3.0]nonan‐7‐one. In addition, the reduction worked well with use of an air‐dried, long‐term preservable cell preparation. The subsequent chemical transformation warranted the stereochemistry and the stereochemical purity of the products, which are related to octahydronaphthalenone and octahydroindenone systems that, in turn, are of considerable value as starting materials for terpenoid synthesis.
Fluorogenic Cyanohydrin Esters as Chiral Probes for Esterase and Lipase Activity
Authors: Leroy Emmanuel , Bensel Nicolas , Reymond Jean‐Louis
Published: June 2003

Fluorogenic cyanohydrin esters were prepared that release the fluorescent product umbelliferone by secondary decomposition of the primary cyanohydrin reaction product by cyanide elimination to the aldehyde and subsequent β‐elimination. Whereas butyrate 1b and octanoate 1d show the highest reaction rates with enzymes, the highest relative rates above the non‐catalyzed background reaction are achieved with pivalate 1c and benzoate 1e. Enantioselective reactions are detected when the conversion stabilizes at 50% of the maximum fluorescence release, and enantioselectivity is confirmed by chiral‐phase HPLC analysis of the unreacted cyanohydrin ester substrate.
New Routes to Chiral Evans Auxiliaries by Enzymatic Desymmetrisation and Resolution Strategies
Authors: Neri Claudia , Williams Jonathan M. J.
Published: June 2003

This paper describes how enantiomerically enriched Evans auxiliaries can be successfully prepared by either an enzymatic desymmetrisation strategy or an asymmetric synthesis using racemic auxiliaries and an enzymatic resolution. Desymmetrisation of N‐Boc‐protected serinol has been achieved in good yield and high enantiomeric excess using porcine pancreas lipase. This has been exploited in different ways to prepare enantiomerically enriched (4R)‐ and (4S)‐substituted 2‐oxazolidinones. In another approach to asymmetric synthesis, starting from a racemic Evans auxiliary, by means of a diastereoselective aldol reaction coupled with a lipase‐catalysed resolution, we achieved the preparation of enantiomerically enriched β‐hydroxy acids and enantiomerically enriched 2‐oxazolidinones.
Biocatalytic Hydrolysis of 3‐Hydroxyalkanenitriles to 3‐Hydroxyalkanoic Acids
Authors: Hann Eugenia C. , Sigmund Amy E. , Fager Susan K. , Cooling Frederick B. , Gavagan John E. , Ben‐Bassat Arie , Chauhan Sarita , Payne Mark S. , Hennessey Susan M. , DiCosimo Robert
Published: June 2003

Microbial catalysts having a combination of nitrile hydratase and amidase activities had a significantly‐higher specific activity for hydrolysis of 3‐hydroxyalkanenitriles than microbial nitrilase catalysts. Comamonas testosteroni 22–1, Dietzia sp. ADL1 and Comamonas testosteroni 5‐MGAM‐4D nitrile hydratase/amidase biocatalysts each hydrolyzed 3‐hydroxyvaleronitrile to 3‐hydroxyvaleric acid (as the ammonium salt) in 99–100% yields, but in consecutive batch reactions with catalyst recycle, alginate‐immobilized C. testosteroni 5‐MGAM‐4D had superior enzyme stability and volumetric productivity. In a series of 85 consecutive batch reactions with biocatalyst recycle for the production of 1.0 M 3‐hydroxyvaleric acid, the recovered nitrile hydratase and amidase activities in the final reaction were 29% and 40%, respectively, of the initial activities. The catalyst productivity for this series of reactions was 670 g 3‐hydroxyvaleric acid/g dry cell weight (50 g 3‐hydroxyvaleric acid/g biocatalyst bead), and the volumetric productivity of the initial reaction in the series was 44 g 3‐HVA/L/h. Similar results were obtained with alginate‐immobilized C. testosteroni 5‐MGAM‐4D for the hydrolysis of 3‐hydroxybutryonitrile and 3‐hydroxypropionitrile to the corresponding 3‐hydroxyalkanoic acid ammonium salts.
Vanadium Chloroperoxidase as a Catalyst for Hydrogen Peroxide Disproportionation to Singlet Oxygen in Mildly Acidic Aqueous Environment
Authors: Renirie Rokus , Pierlot Christel , Aubry Jean‐Marie , Hartog Aloysius F. , Schoemaker Hans E. , Alsters Paul L. , Wever Ron
Published: June 2003

Chemiluminescence studies show that the enzyme vanadium chloroperoxidase from the fungus Curvularia inaequalis is a highly efficient catalyst for the production of singlet oxygen from hydrogen peroxide in a mildly acidic aqueous environment, with a maximum turnover frequency of 100 s−1 with respect to H2O2 consumption. The enzyme studied here can be regarded as a supplementary catalyst to inorganic molybdate, which operates in basic aqueous media. The enzyme system is 103 – 104 times faster than the molybdate system when compared at their optimal pH. The enzyme is very stable against singlet oxygen, in contrast to heme‐containing peroxidases which, due to inactivation by singlet oxygen, only produce a short burst, presumably by oxidation of the labile cofactor. The vanadium chloroperoxidase was compared with vanadium bromoperoxidase from the seaweed Ascophyllum nodosum and was found to be even more stable; it is stable towards a continuous flow of singlet oxygen for at least 1 hour and also it is not inactivated by 500 mM H2O2. An important difference with vanadium bromoperoxidase is that the vanadium chloroperoxidase is able to effectively use chloride as a cocatalyst (20 s−1) instead of bromide. This offers an important advantage from an application point of view; using chloride, no side products are observed when the chemical trap anthracene‐9,10‐bis(ethanesulphonate) is fully converted by singlet oxygen into its corresponding endoperoxide. By contrast, when bromide is used, 20% side product is formed. During the conversion the enzyme remains fully stable for 25,000 turnovers.
Enzymatic Racemisation and its Application to Synthetic Biotransformations
Authors: Schnell Barbara , Faber Kurt , Kroutil Wolfgang
Published: June 2003

In contrast to kinetic resolution, where only 50% of the racemic starting material can be converted into the desired product and where the remaining ‘wrong' enantiomer has to be considered as waste, so‐called deracemisation processes allow the production of a single stereoisomeric product from racemic starting material. In this context, the use of environmentally benign methods for biocatalytic racemisation holds great potential. The small and largely overlooked group of racemases (EC 5.1.X.X), which are increasingly being used for dynamic kinetic resolution or in auxiliary biocatalytic recycling processes, are reviewed with respect to their properties, their substrate tolerance and their biocatalytic potential.
Remote Effects Modulating the Spin Equilibrium of the Resting State of Cytochrome P450cam –An Investigation Using Active Site Analogues
Authors: Lochner Martin , Mu Linjing , Woggon Wolf‐D.
Published: June 2003

The crystal structure of the resting state of cytochrome P450cam (CYP101), a heme thiolate protein, shows a cluster of six water molecules in the substrate binding pocket, one of which is coordinating to iron(III) as sixth ligand. The resting state is low‐spin and changes to high‐spin when substrate camphor binds and H2O is removed. In contrast to the protein, previously synthesised enzyme models such as H2OFeIII(porph)(ArS−) were shown to be purely high‐spin. Iron(S−)porphyrins with different distal sites mimicking proposed remote effects have been prepared and studied by cw‐EPR. The results indicate that the low‐spin of the resting state of P450cam is due to the fact that the water molecule coordinating to iron has an OH−‐like character because of hydrogen bonding and polarisation of the water cluster, respectively.
The Donor Substrate Spectrum of Recombinant Sucrose Synthase 1 from Potato for the Synthesis of Sucrose Analogues
Authors: Römer Ulrike , Rupprath Carsten , Elling Lothar
Published: June 2003

The donor substrate spectrum of recombinant sucrose synthase 1 (SuSy1) from potato was studied in order to synthesise novel sucrose analogues. With D‐fructose as acceptor substrate SuSy1 accepts a variety of UDP‐activated sugars, e.g., UDP‐N‐acetyl‐α‐D‐glucosamine (UDP‐GlcNAc, 2) (100%), UDP‐α‐D‐glucuronic acid (UDP‐GlcA, 3) (32%), UDP‐α‐D‐xylose (UDP‐Xyl, 4) (39%), UDP‐α‐D‐galactose (UDP‐Gal, 5) (23%), and UDP‐N‐acetyl‐α‐D‐galactosamine (UDP‐GalNAc, 6) (23%). The kinetic analyses revealed that the non‐natural donors 2 (kcat/Km 1.2 s−1 mM−1) and 5 (kcat/Km 0.01 s−1 mM−1) were relative poor substrates compared to UDP‐Glc 1 (kcat/Km 310.4 s−1 mM−1). UDP‐GlcNAc was used in a preparative synthesis to produce 188 mg (0.5 mmol) 2‐acetamido‐2‐deoxy‐D‐glucopyranosyl‐β‐D‐fructofuranoside (9). The sucrose analogue 9 was not hydrolysed by invertase.
Second Generation Sol‐Gel Encapsulated Lipases: Robust Heterogeneous Biocatalysts
Authors: Reetz Manfred T. , Tielmann Patrick , Wiesenhöfer Wolfgang , Könen Werner , Zonta Albin
Published: June 2003

The original procedure for the encapsulation of lipases in sol‐gel materials produced by the fluoride‐catalyzed hydrolysis of mixtures of RSi(OCH3)3 and Si(OCH3)4 has been improved considerably. This involves higher enzyme loading, variation of the alkylsilane precursor, and the use of additives such as isopropyl alcohol, 18‐crown‐6, Tween 80®, methyl‐β‐cyclodextrin and/or KCl. A dramatic increase in enzyme activity is observed. The sol‐gel lipase immobilizates are also excellent catalysts in the kinetic resolution of chiral alcohols and amines, recycling without any substantial loss in enantioselectivity and a residual activity of 70% being possible even after 20 reaction cycles.
Nitrile and Amide Biotransformations for Efficient Synthesis of Enantiopure gem‐Dihalocyclopropane Derivatives
Authors: Wang Mei‐Xiang , Feng Guo‐Qiang , Zheng Qi‐Yu
Published: June 2003

Catalyzed by Rhodococcus sp. AJ270 microbial cells, trans‐2,2‐dihalo‐3‐phenylcyclopropanecarbonitriles and ‐amides underwent enantioselective hydrolysis under very mild conditions. Both the efficiency and enantioselectivity of the nitrile hydratase and amidase involved in the cells were strongly determined by the nature of the halogen substituent. The synthetic utility of the biocatalytic process was illustrated by an efficient and multi‐gram scale biotransformation and synthesis of enantiopure 2,2‐dichloro‐3‐phenylcyclopropanecarboxylic acid and amide in both enantiomeric forms.
Penicillin Acylase Catalysed Synthesis of Ampicillin in Hydrophilic Organic Solvents
Authors: van Langen Luuk M. , Oosthoek Natasja H. P. , van Rantwijk Fred , Sheldon Roger A.
Published: June 2003

Penicillin acylase (EC 3.5.1.11) from Alcaligenes faecalis, immobilised as a cross‐linked enzyme aggregate (CLEA), catalysed the synthesis of ampicillin in water‐miscible organic solvents at low water concentrations. Below 4% water (v/v) no reaction was observed, showing the crucial role of water in maintaining the activity of penicillin acylase. The initial value of S/H was strongly affected by the nature of the solvent, but the effect of the water content was slight in the studied range of 4 to 15%. A reaction in acetonitrile containing 8% water afforded ampicillin in up to 86% yield.
Novel Hydrolases from Thermophilic Filamentous Fungi for Enantiomerically and Enantiotopically Selective Biotransformations
Authors: Bódai Viktória , Peredi Réka , Bálint József , Egri Gabriella , Novák Lajos , Szakacs György , Poppe László
Published: June 2003

Fourteen thermophilic filamentous fungi were cultivated on two shake flask media and the supernatants were assayed for lipase/carboxylesterase activities using olive‐oil, p‐nitrophenyl palmitate and p‐nitrophenyl butyrate as substrates. The crude enzyme powders (acetone precipitated supernatants) were tested as biocatalysts in organic solvents. Kinetic resolution of racemic 1‐phenylethanol (rac‐1) and desymmetrisation of 2‐acyloxypropan‐1,3‐diols (3a, b) by acetylation with vinyl acetate were chosen for testing the biocatalytic abilities of these preparations. The tested biocatalysts proved to be comparable to the commercially available enzymes with respect to the degree of enantiomer selectivity, whereas they exhibited a wider range of enantiotopic selectivity than the most common commercial enzymes.
Chemo‐Enzymatic Approach to Statin Side‐Chain Building Blocks
Authors: Öhrlein R. , Baisch Gabriele
Published: June 2003

A versatile statin side‐chain building block is obtained by an enzymatic desymmetrisation of the symmetrical glutaric acid diethyl ester. The monoacid is produced in almost quantitative yield in the desired high optical purity. The monoacid is easily converted to the corresponding acid chloride, which is a key compound to be elaborated to some statin side‐chain derivatives. The optically active C‐5 chain is subsequently elongated by two carbon atoms and syn‐reduced to the final diol fragment.
Membrane Aerated Hydrogenation: Enzymatic and Chemical Homogeneous Catalysis
Authors: Greiner Lasse , Müller Daniela H. , van den Ban Eyke C. D. , Wöltinger Jens , Wandrey Christian , Liese Andreas
Published: June 2003

Among the most successful systems for homogeneous catalysis, hydrogenation catalysts capable of activating molecular hydrogen, take outstanding roles in research laboratories and in industry. To open up the field of continuous catalytic hydrogenations a novel membrane reactor concept was developed and successfully applied for hydrogenations with dihydrogen both for chemical and for enzymatic catalysis. The hydrogenase I of the archaeon Pyrococcus furiosus was utilized for the continuous hydrogenation of NADP+ to NADPH with recycling of the enzyme by means of ultrafiltration. The well known PyrPhos‐Rh system was used for the enantioselective synthesis of an amino acid derivative by hydrogenation.
Biocatalytic Preparation of N‐Glycolylneuraminic Acid, Deaminoneuraminic Acid (KDN) and 9‐Azido‐9‐deoxysialic Acid Oligosaccharides
Authors: Blixt Ola , Paulson James C.
Published: June 2003

A facile approach for preparative synthesis of sialyloligosaccharides containing N‐glycolylneuraminic acid, deaminoneuraminic acid, and two 9‐azido derivatives is described. Synthesis is accomplished by use of 6‐carbon mannose/mannosamine precursors employing an aldolase, CMP‐sialic acid synthetase, and sialyltransferase. Using a combination of five different sialyltransferases and various acceptor substrates, 16 sialosides representing sequences found in glycoproteins and glycolipids were synthesized with typical yields of 60–80%.
Mixed Aromatic Acyloin Condensations with Recombinant Benzaldehyde Lyase: Synthesis of α‐Hydroxydihydrochalcones and Related α‐Hydroxy Ketones
Authors: Sanchez‐Gonzalez Monica , Rosazza John P. N.
Published: June 2003

Recombinant benzaldehyde lyase (BAL), expressed and purified from E. coli strain JM‐109, was used to catalyze the condensation of a series of methoxybenzaldehydes and phenylacetaldehyde in the synthesis of α‐(R)‐hydroxydihydrochalcones. Enantiomerically pure 1‐hydroxy‐1,3‐diphenylpropan‐2‐ones and o‐anisoin were also obtained as products of the BAL reaction. The R absolute configurations of chiral centers were determined by CD spectroscopy. α‐(R)‐Hydroxydihydrochalcones and 1‐hydroxy‐1,3‐diphenylpropan‐2‐ones are valuable synthons for chemoenzymatic syntheses of flavonoids. This is the first synthesis of α‐(R)‐hydroxydihydrochalcones by a microbial enzyme.
Preparative Enzymatic Synthesis of the Acylglucuronide of Mycophenolic Acid
Authors: Kittelmann Matthias , Rheinegger Urs , Espigat Aude , Oberer Lukas , Aichholz Reiner , Francotte Eric , Ghisalba Oreste
Published: June 2003

The acylglucuronide (3) of mycophenolic acid (1) was enzymatically synthesised on a preparative scale (450 mg substrate) under optimised reaction conditions with 51% conversion. By screening 9 liver homogenates from 8 vertebrate species, it was shown that only with liver homogenate from horse as the catalyst were the acyl‐ (3) and the O‐glucuronide (2) were formed in a ca. 1 : 1 ratio. With homogenates from other sources, the O‐glucuronide (2) was produced in high excess. By optimising the concentration of the co‐substrate UDP‐glucuronic acid and the reaction temperature, the conversion to the acylglucuronide (3) was increased from initially 34 to 55% and the ratio of acyl‐ (3) to O‐glucuronide (2) from 1.5 : 1 to 3.9 : 1. The reaction was also performed continuously in an enzyme membrane reactor, however, with lower conversion yield and therefore, higher specific UDP‐glucuronic acid consumption.
Chemo‐Enzymatic Method for the Synthesis of Statine, Phenylstatine and Analogues
Authors: Kambourakis Spiros , Rozzell J. David
Published: June 2003

A chemo‐enzymatic method for the synthesis of statine [(3S,4R)‐4‐amino‐3‐hydroxy‐6‐methylheptanoic acid] and statine analogues with natural and unnatural side chains is described. The key step of the synthesis is the diastereoselective reduction of a 2‐alkyl‐substituted 3‐ketoglutarate by an NADPH‐dependent ketoreductase. Two chiral centers are generated in one step, and high yields of a single stereoisomer are obtained (80–90% yield, 90–99% de). Subsequent chemical or enzymatic regio‐selective hydrolysis to the mono‐acid followed by rearrangement under Curtius or Hofmann conditions generates the final statines.
Attitudes and distress levels in women at risk to carry a BRCA1/BRCA2 gene mutation who decline genetic testing
Authors: Lodder Litanja , Frets Petra G. , Trijsburg R. Willem , Klijn Jan G.M. , Seynaeve Caroline , Tilanus Madeleine M.A. , Bartels Carina C.M. , Meijers‐Heijboer E Johanna , Verhoog Leon C. , Niermeijer Martinus F.
Published: May 2003

Genetic testing enables women at risk for hereditary breast and/or ovarian cancer to find out whether they have inherited the gene mutation, and if so, to opt for undergoing frequent surveillance and/or prophylactic surgery. However, the option to know about one's genetic status is not always seen as a benefit by women at risk. Motives for declining genetic testing were explored in 13 women at 25% or 50% risk to be a BRCA1/BRCA2 mutation carrier, who participated in a surveillance program for breast/ovarian cancer (the non‐tested group). We hypothesized that high anxiety might be an important motive to decline testing. In addition, we investigated whether the non‐tested group differed from a reference group of women who did undergo the test (tested group; n = 85) with regard to biographical factors, experience with cancer in relatives, and personality traits. Most non‐tested women (10/13) were satisfied with participating in the surveillance program. Four reported to feel emotionally unprepared to cope with the consequences of testing. Compared with the tested group, the non‐tested women had similar mean distress levels (which were not high), but a higher education level, they were more often childless, showed more reluctance towards prophylactic surgery, were younger when first confronted with a relative affected with breast/ovarian cancer, and were longer aware of the genetic nature of the disease. This study showed that women were more likely to have thoroughly reflected on their decision not to undergo genetic testing, than to deny the whole issue due to high anxiety. Being confronted at a relatively young age with breast/ovarian cancer in a relative, and being aware of the genetic risk for a many years, may have resulted in the risk for cancer becoming an integrated part of their lives. However, generalization of these results to women who neither underwent the test nor participated in a surveillance program should be considered with caution.© 2003 Wiley‐Liss, Inc.
Deletion of chromosome region 18q21.1 → 18q21.3 in a patient without clinical features of the 18q‐ phenotype
Authors: Engelen J.J.M. , Moog U. , Weber J. , Haagen A.A.M. , van Uum C.M.J. , Hamers A.J.H.
Published: May 2003

In a 16‐month‐old boy referred because of developmental delay and asymmetric motor development, chromosome analysis showed an aberrant chromosome 18 in all 25 metaphases examined. The chromosome aberration was initially interpreted either as an interstitial deletion of chromosome region 18q21.1 → 18q21.3 or an unbalanced translocation involving the distal part of the long arm of chromosome 18. Chromosome microdissection in combination with fluorescence in situ hybridization demonstrated that the aberrant chromosome 18 had an interstitial deletion, the karyotype being: 46,XY,del(18)(q21.1q21.3). At age 27 months, his development was moderately retarded. He showed craniofacial asymmetry but no other anomalies. The clinical and cytogenetic findings are compared with previously reported patients with a terminal or interstitial deletion in the long arm of chromosome 18. © 2003 Wiley‐Liss, Inc.
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan–Fryns syndrome
Authors: Stathopulu E. , Ogilvie C. Mackie , Flinter F.A.
Published: May 2003

We report a young man with phenotypical features suggestive of Lujan–Fryns syndrome and behaviour of an autistic spectrum disorder, who has a subtle terminal deletion of the short arm of chromosome 5. Individuals reported previously with a similar chromosomal abnormality have had developmental delay and a ‘breathy, raspy’ voice. It may be appropriate to consider screening patients with a phenotype suggestive of Lujan–Fryns syndrome by fluorescence in situ hybridisation (FISH) using a probe for the subtelomeric region of the short arm of chromosome 5. © 2003 Wiley‐Liss, Inc.
Development of the pharyngeal arches
Authors: Graham Anthony
Published: May 2003

The oro‐pharyngeal apparatus has its origin in a series of bulges that is found on the lateral surface of the embryonic head, the pharyngeal arches. The development of the pharyngeal arches is complex involving a number of disparate embryonic cell types: ectoderm, endoderm, neural crest and mesoderm, whose development must be co‐ordinated to generate the functional adult apparatus. In the past, most studies have emphasised the role played by the neural crest, which generates the skeletal elements of the arches, in directing pharyngeal arch development, but it has also become apparent that the other tissues of the arches, most notably the endoderm, also plays a prominent role in directing arch development. Thus pharyngeal arch development is more complex, and more consensual, than was previously believed. © 2003 Wiley‐Liss, Inc.
Alport syndrome with diffuse leiomyomatosis
Authors: Anker Martina C. , Arnemann Joachim , Neumann Katrin , Ahrens Peter , Schmidt Helga , König Rainer
Published: May 2003

Alport syndrome (AS) is a hereditary nephropathy with hematuria progressing to end‐stage renal failure (ESRF), sensorineural deafness, and specific eye signs (lenticonus, macular flecks, and congenital cataracts). Inheritance is X‐linked in about 85% of the cases, caused by different mutations in the COL4A5 gene. Rarely AS is seen in combination with diffuse leiomyomatosis (DL). DL is a tumorous process involving smooth muscle cells, mostly of the esophagus, but also of the tracheobronchial tree and the female genital tract. Characteristically, the patients have deletions of the 5′‐end of both the COL4A5 and the COL4A6 genes, respectively. We here present a 9‐year‐old boy who was admitted because of a newly diagnosed sensorineural deafness. He was born with cataracts and presented symptoms of dysphagia and bronchial irritation in the first year of life. Macroscopic hematuria was first noticed at 2 years during a febrile infection. Since early childhood the boy suffered from severe constipation. Taking together these symptoms, the diagnosis of Alport syndrome with diffuse leiomyomatosis (AS‐DL) has to be considered. Genetic analysis demonstrated the predicted deletion of the COL4A5/COL4A6 genes. © 2003 Wiley‐Liss, Inc.
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B
Authors: Wilson Meredith , Mowat David , Dastot‐Le Moal Florence , Cacheux Valère , Kääriäinen Helena , Cass Danny , Donnai Dian , Clayton‐Smith Jill , Townshend Sharron , Curry Cynthia , Gattas Michael , Braddock Stephen , Kerr Bronwyn , Aftimos Salim , Zehnwirth Harry , Barrey Catherine , Goossens Michel
Published: May 2003

Mutations or deletions involving ZFHX1B (previously SIP1) have recently been found to cause one form of syndromic Hirschsprung disease (HSCR), associated with microcephaly, mental retardation, and distinctive facial features. Patients with the characteristic facial phenotype and severe mental retardation, but without HSCR, have now also been shown to have mutations in this gene. Mutations of ZFHX1B are frequently associated with other congenital anomalies, including congenital heart disease, hypospadias, renal tract anomalies, and agenesis of the corpus callosum (ACC). We present the clinical data and mutation analysis results from a series of 23 patients with this clinical syndrome, of whom 21 have proven ZFHX1B mutations or deletions (15 previously unpublished). Two patients with the typical features (one with and one without HSCR) did not have detectable abnormalities of ZFHX1B. We emphasize that this syndrome can be recognized by the facial phenotype in the absence of either HSCR or other congenital anomalies, and needs to be considered in the differential diagnosis of dysmorphism with severe mental retardation +/− epilepsy. © 2003 Wiley‐Liss, Inc.
Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: Relationship to SFTPB
Authors: Tredano Mohammed , Griese Matthias , de Blic Jacques , Lorant Tifenn , Houdayer Claude , Schumacher Silja , Cartault François , Capron Frédérique , Boccon‐Gibod Liliane , Lacaze‐Masmonteil Thierry , Renolleau Sylvain , Delaisi Bertrand , Elion Jacques , Couderc Rémy , Bahuau Michel
Published: May 2003

We have analyzed surfactant protein B (SP‐B) and its encoding gene (SFTPB, MIM 178640) in 40 unrelated pediatric patients with unexplained respiratory distress (URD). There was high consanguinity (eight kindreds) and an underlying autosomal recessive trait could be inferred in most cases, with overall high sex ratio (32/17) suggesting proband's gender to impact on penetrance. The clinical/biological presentations fitted into three major nosologic frameworks. I: SP‐B deficiency (nine probands), complete or incomplete, with homozygous/compoundly heterozygous mutations identified (six probands), including one from the population isolate of Réunion Island (496delG). In addition, there was a consanguineous kindred in which incomplete deficiency was unambiguously unlinked to SFTPB. II: pulmonary alveolar proteinosis (PAP, 19 probands), with typical storage of PAS‐positive material within the alveoli with foamy macrophages and variable interstitial reaction, which was diagnosed in most patients from Réunion Island. In contrast to previously published findings, mutation and/or segregation analyses excluded SFTPB as a disease locus, although slight metabolic derangement related to SP‐B and/or mild SFTPB changes could somehow contribute to disease. III: URD without evidence for SP‐B deficiency or PAP (12 probands), equally unlinked to SFTPB, although a single patient had a possibly causal, maternally‐derived, heterozygous genetic change (G4521A). The population frequency of five known and four novel SNPs was studied, providing as many potential markers for pulmonary disease related to SFTPB. Overall, URD was found to be heterogeneous, both phenotypically and genetically, even in population isolates where a founder effect might have been expected. When disease loci are identified, patient genotyping will be crucial as a diagnostic aid, for devising proper treatment, and as a basis for genetic counseling. © 2003 Wiley‐Liss, Inc.
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)
Authors: Tsirikos Athanasios I. , Mason Dan E. , Scott Charles I. , Chang Wei‐Ning
Published: May 2003

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) is a distinctive form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment. We report on a patient with SEMDJL, who presented with all the characteristic orthopedic manifestations of the disorder, required multiple operative procedures, and has the longest reported follow‐up and survival into adulthood with a favorable outcome. We describe all the clinical and radiographic findings that can allow an early diagnosis of this type of skeletal dysplasia, which can lead to profound disability with potentially lethal spinal and pulmonary complications in early childhood. In view of the severe clinical and genetic implications, diagnostic precision is of vital importance, particularly since the disorder is currently believed to be more common than initially reported. © 2003 Wiley‐Liss, Inc.
Short trunk stature, brachydactyly, and platyspondyly in three sibs: A new form of brachyolmia or a new skeletal dysplasia?
Authors: Tüysüz Beyhan , Üngür Savaş
Published: May 2003

We present a 27‐year‐old girl with short trunk stature, generalized rectangular platyspondyly and strike precocious calcification of costal cartilage. She had also brachydactyly, small nails, strabismus and delay of menarche. Her 16‐year‐old sister had also short trunk stature with severe kyphoscoliosis, hearing loss, brachydactyly, platyspondyly and mild precocious calcification of costal cartilages. Their 12‐year‐old brother had short trunk stature, kyphoscoliosis, brachydactyly, and platyspondyly but did not show precocious calcification of costal cartilage. The patients shared the following features: short trunk stature, brachydactyly, severe rectangular platyspondyly, broad and short femoral necks and hypoplasia of the ileum. In addition, the older sister had strike precocious calcification of costal cartilage while her sister and brother had severe kyphoscoliosis. Although short trunk stature and severe rectangular platyspondyly without significant epiphyseal or metaphyseal changes were in favor of Hobaek type brachyolmia, this diagnosis was not considered, both because, there were no specific radiological findings of this syndrome, such as elongated vertebral bodies extending beyond the pedicles laterally and all of the patients had brachydactyly which was not present in Hobaek type brachyolmia. The parents were healthy and first cousins signifying autosomal recessive inheritance. We considered that the patients could be affected by a new distinct autosomal recessive type brachyolmia or a new skeletal dysplasia. © 2003 Wiley‐Liss, Inc.
Pregnancy outcome and prenatal diagnosis of sex chromosome abnormalities in Hawaii, 1986–1999
Authors: Forrester Mathias B. , Merz Ruth D.
Published: May 2003

Sex chromosome abnormalities such as Turner syndrome, Klinefelter syndrome, triple X syndrome, and 47,XYY can be prenatally diagnosed and electively terminated. This investigation examined the pattern of pregnancy outcome of prenatally and postnatally diagnosed sex chromosome abnormalities in Hawaii during 1986–1999 and calculated prenatal diagnosis and subsequent elective termination rates for various factors. Data were obtained from a statewide population‐based birth defects registry. The study included 205 detected sex chromosome abnormality cases of which 93 (45%) were live births, 18 (9%) late fetal deaths, 37 (18%) early fetal deaths, and 57 (28%) elective terminations. Pregnancy outcome distribution varied by type of sex chromosome abnormality. Prenatal diagnosis was reported for 132 (64%) of the cases, of which 46 (35%) were subsequently electively terminated. Eleven cases were elective terminations where the sex chromosome abnormality was diagnosed after delivery. Elective termination rates subsequent to prenatal diagnosis differed by sex chromosome abnormality, being highest for 45,X (54%), followed by 47,XXY (46%), 47,XYY (29%), and 47,XXX (17%). Although prenatal diagnosis rates increased significantly over the time period (P = 0.006), the subsequent elective termination rate declined slightly, albeit the trend was not statistically significant (P = 0.440). The prenatal diagnosis rate was highest for the 35–39‐year maternal age group, although this age group did not have subsequent elective termination rates higher than other maternal age groups. Pregnancy outcome distribution and prenatal diagnosis and subsequent elective termination of sex chromosome abnormalities appeared to depend on the type of sex chromosome abnormality, year of delivery, and maternal age. © 2003 Wiley‐Liss, Inc.
First‐year mortality rates for selected birth defects, Hawaii, 1986–1999
Authors: Forrester Mathias B. , Merz Ruth D.
Published: May 2003

Birth defects have been the leading cause of infant death in the United States for over the last decade. However, there is little population‐based data on the first‐year mortality rates for many specific birth defects and the factors that may affect these mortality rates. This investigation examined the first‐year mortality rates for 54 selected birth defects of various organ systems in Hawaii during 1986–1999 using data from a population‐based birth defects registry and evaluated the impact of the presence of chromosomal abnormalities and other structural birth defects and the year of delivery on the mortality rates. Mortality rates varied widely by defect, being highest for anencephaly (100%), trisomy 13 (82%), and trisomy 18 (74%), while no first‐year deaths were reported for glaucoma, bladder exstrophy, and persistent cloaca. The majority (36 of 54 or 67%) of the birth defects had a mortality rate of less than 25%. Among the 51 structural birth defects, 38 (75%) had higher first‐year mortality rate for cases with chromosomal abnormalities and 42 (82%) had higher first‐year mortality rates for cases with other major structural birth defects. The mortality rate among 1986–1992 deliveries was higher than the mortality rate among 1993–1999 deliveries for 37 (69%) of the 54 birth defects. This study indicates that first‐year mortality rates vary widely by type of birth defect, although the mortality rate for the majority of birth defects is relatively low. The presence of a chromosomal abnormality or other structural birth defect increases the mortality rate, and mortality rates for the majority of birth defects have declined in Hawaii during the study period. © 2003 Wiley‐Liss, Inc.
Vocal cord abnormalities in Williams syndrome: A further manifestation of elastin deficiency
Authors: Vaux Keith K. , Wojtczak Henry , Benirschke Kurt , Jones Kenneth Lyons
Published: May 2003

Williams syndrome (WS) is due to a deletion in the WS critical region at 7q11.23 which includes the elastin gene (ELN). One of the most characteristic features of this disorder is a harsh, brassy, or hoarse voice but the etiology of the vocal characteristics are unknown. We report two patients with WS who had bilateral vocal cord abnormalities, bringing to four the number of children with WS in whom such defects have been documented. We suggest that vocal cord abnormalities may be a far more common feature of WS than has been previously suspected, and that mild vocal cord dysfunction caused by abnormal vocal cord elastin may be the cause of the hoarse voice in this condition. © 2003 Wiley‐Liss, Inc.