bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic counseling and “molecular” prenatal diagnosis of holoprosencephaly (HPE)
Authors: Mercier Sandra , Dubourg Christèle , Belleguic Marion , Pasquier Laurent , Loget Philippe , Lucas Josette , Bendavid Claude , Odent Sylvie 
Published: January 2010

AbstractHoloprosencephaly (HPE) is a structural anomaly of the developing brain in which the forebrain fails to divide into two separate hemispheres and ventricles. The poor prognosis in the most severe forms justifies the importance of genetic counseling in affected families. The genetic counseling requires a thorough clinical approach given the extreme variability of phenotype and etiology. The karyotype is an essential diagnostic tool. Since mutations in the four major genes (SHH, ZIC2, SIX3, and TGIF) have been identified in HPE patients, molecular study is performed routinely in nonsyndromic HPE. New molecular tools, such as array‐CGH analysis, are now part of the diagnostic process. Prenatal diagnosis is based primarily on fetal imaging, but “molecular” prenatal diagnosis can be performed if a mutation has been previously identified in a proband. Interpretations of molecular diagnosis must be given with caution, given the lack of strict genotype–phenotype correlation, and should be offered in addition to fetal imaging, using ultrasound followed by fetal MRI. We report on our experience of 15 molecular prenatal diagnoses from chorionic villi or amniotic fluid sampling. In eight instances, we were able to reassure the parents after taking into account the absence of the mutation in the fetus, previously identified before in a parent and/or a proband. Fetal RMI was normal later in pregnancy, and no child had medical problems after birth. The mutation was found in the seven other cases: four children were born, either without brain malformation and asymptomatic, or had a less severe form than the index case. © 2010 Wiley‐Liss, Inc.
Holoprosencephaly: An update on cytogenetic abnormalities
Authors: Bendavid Claude , Dupé Valérie , Rochard Lucie , Gicquel Isabelle , Dubourg Christèle , David Véronique 
Published: January 2010

AbstractHoloprosencephaly (HPE), the most common developmental defect of the forebrain and midface, is caused by a failure of midline cleavage early in gestation. Isolated HPE, which is highly genetically heterogeneous, can be due to major chromosomal abnormalities. Initially, karyotype approach led to the identification of several recurrent chromosomal anomalies predicting different HPE loci. Subsequently, several genes were isolated from these critical HPE regions, but point mutations and deletions in these genes were found only in 25% of the genetic cases. In order to identify other HPE genes, a more accurate investigation of the genome in HPE patients was necessary. To date, high‐resolution cytogenetic techniques such as subtelomeric multiplex ligation‐dependent probe amplification (MLPA) and microarray‐based comparative genomic hybridization (array CGH) have enhanced chromosomal aberration analysis. In this article, we have updated the cytogenetic anomalies associated with HPE in a map listing all the subtelomeric and interstitial deletions that have been characterized either by karyotype, MLPA, or array CGH. The accumulation of recurrent genomic imbalances will lead to the further delineation of minimal critical HPE loci, which is the first step to the identification of new HPE genes. © 2010 Wiley‐Liss, Inc.
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients
Authors: Pineda‐Alvarez Daniel E. , Dubourg Christèle , David Véronique , Roessler Erich , Muenke Maximilian 
Published: January 2010

AbstractHoloprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans and is typically characterized by different degrees of hemispheric separation that are often accompanied by similarly variable degrees of craniofacial and midline anomalies. HPE is a classic example of a complex genetic trait with “pseudo”‐autosomal dominant transmission showing incomplete penetrance and variable expressivity. Clinical suspicion of HPE is typically based upon compatible craniofacial findings, the presence of developmental delay or seizures, or specific endocrinological abnormalities, and is then followed up by confirmation with brain imaging. Once a clinical diagnosis is made, a thorough genetic evaluation is necessary. This usually includes analysis of chromosomes by high‐resolution karyotyping, clinical assessment to rule‐out well recognized syndromes that are associated with HPE (e.g., Pallister‐Hall syndrome, Smith‐Lemli‐Opitz syndrome and others), and molecular studies of the most common HPE associated genes (e.g., SHH, ZIC2 and SIX3). In this review, we provide current step‐by‐step recommendations that are medically indicated for the genetic evaluation of patients with newly diagnosed HPE. Moreover, we provide a brief review of several available methods used in molecular diagnostics of HPE and describe the advantages and limitations of both currently available and future tests as they relate to high throughput screening, cost, and the results that they may provide. Published 2010 Wiley‐Liss, Inc.
Scatter matters: Regularities and implications for the scatter of healthcare information on the Web
Authors: Bhavnani Suresh K. , Peck Frederick A. 
Published: January 2010

AbstractDespite the development of huge healthcare Web sites and powerful search engines, many searchers end their searches prematurely with incomplete information. Recent studies suggest that users often retrieve incomplete information because of the complex scatter of relevant facts about a topic across Web pages. However, little is understood about regularities underlying such information scatter. To probe regularities within the scatter of facts across Web pages, this article presents the results of two analyses: (a) a cluster analysis of Web pages that reveals the existence of three page clusters that vary in information density and (b) a content analysis that suggests the role each of the above‐mentioned page clusters play in providing comprehensive information. These results provide implications for the design of Web sites, search tools, and training to help users find comprehensive information about a topic and for a hypothesis describing the underlying mechanisms causing the scatter. We conclude by briefly discussing how the analysis of information scatter, at the granularity of facts, complements existing theories of information‐seeking behavior.
The consumption and disposition behaviour of voluntary simplifiers
Authors: Ballantine Paul W. , Creery Sam 
Published: January 2010

Abstract

Voluntary simplicity is a lifestyle choice that has received increasing media attention over time. A defining characteristic of voluntary simplicity is reduced material consumption and the removal of clutter from one's life, thus suggesting the topic of disposition may inform our understanding of voluntary simplifier lifestyle behaviour. This paper explores the disposition activities of voluntary simplifiers in the context of their overall consumption behaviour using a series of in‐depth interviews with 12 current voluntary simplifiers. The findings show that disposition plays an important role in voluntary simplifier behaviour, especially during the initial stages of adopting the lifestyle. The consideration of future disposition activities was also found to influence the day‐to‐day consumption behaviour of participants.
Copyright © 2010 John Wiley & Sons, Ltd.
Mothers' experiences related to the disposal of children's clothing and gear: keeping Mister Clatters but tossing broken Barbie
Authors: Sego Trina 
Published: January 2010

Abstract
Drawing upon depth interviews with mothers, this study explores meanings attached to children's items disposed of through various channels. Items with little value (rubbish) such as broken toys were typically thrown away. Items that had deep personal meaning for the mothers but that lacked clear value to others (mementos) are kept in storage without plans for the future transfer of ownership to anyone else. Some mementos are extensions of the children's identities; they are often contaminated from use by the children and/or indexed to specific memories held by the mothers. Items that have less personal meaning for the mothers but that might be useful to other families (wares) were redistributed through giving, selling or donating. Baby wares were typically given to other mothers, while wares for older children were donated to charity. Interviewees described keeping some items on display or in storage with the intention of passing them on to children or grandchildren at a later time (intended heirlooms). Intended heirlooms have mythologized stories of origin, they affirm family identity, and some demonstrate properties of sacredness. Suggested directions for future research include further exploration of mothers' giving to other mothers and identity issues related to disposal.
Copyright © 2010 John Wiley & Sons, Ltd.
Regulation of cardiovascular cell function by hydrogen sulfide (H2S)
Authors: Elsey David J , Fowkes Robert C , Baxter Gary F 
Published: January 2010

AbstractSince the discovery of endogenously‐produced hydrogen sulfide (H2S) in various tissues, there has been an explosion of interest in H2S as a biological mediator alongside other gaseous mediators, nitric oxide and carbon monoxide. The identification of enzyme‐regulated H2S synthetic pathways in the cardiovascular system has led to a number of studies examining specific regulatory actions of H2S. We review evidence showing that endogenously‐generated and exogenously‐administered H2S exerts a wide range of actions in vascular and myocardial cells including vasodilator/vasoconstrictor effects via modification of the smooth muscle tone, induction of apoptosis and anti‐proliferative responses in the smooth muscle cells, angiogenic actions, effects relevant to inflammation and shock, and cytoprotection in models of myocardial ischemia‐reperfusion injury. Several molecular mechanisms of action of H2S have been described. These include interactions of H2S with NO, redox regulation of multiple signaling proteins and regulation of KATP channel opening. The gaps in our current understanding of precise mechanisms, the absence of selective pharmacological tools and the limited availability of H2S measurement techniques for living tissues, leave many questions about physiological and pathophysiological roles of H2S unanswered at present. Nevertheless, this area of investigation is advancing rapidly. We believe H2S holds promise as an endogenous mediator controlling a wide range of cardiovascular cell functions and integrated responses under both physiological and pathological conditions and may be amenable to therapeutic manipulation. Copyright © 2010 John Wiley & Sons, Ltd.
Prison health‐care wings: Psychiatry's forgotten frontier?
Authors: Forrester Andrew , Chiu Katrina , Dove Samantha , Parrott Janet 
Published: January 2010

AbstractBackground There is worldwide evidence of high rates of mental disorder among prisoners, with significant co‐morbidity. In England and Wales, mental health services have been introduced from the National Health Service to meet the need, but prison health‐care wings have hardly been evaluated.Aims/hypotheses To conduct a service evaluation of the health‐care wing of a busy London remand (pre‐trial) prison and examine the prevalence and range of mental health problems, including previously unrecognised psychosis.Methods Service‐use data were collected from prison medical records over a 20‐week period in 2006–2007, and basic descriptive statistics were generated.Results Eighty‐eight prisoners were admitted (4.4 per week). Most suffered from psychosis, a third of whom were not previously known to services. Eleven men were so ill that they required emergency compulsory treatment in the prison under Common Law before hospital tranfer could take place. Over a quarter of the men required hospital transfer. Problem behaviours while on the prison health‐care wing were common.Conclusions and implications Prison health‐care wings operate front‐line mental illness triaging and recognition functions and also provide care for complex individuals who display behavioural disturbance. Services are not equivalent to those in hospitals, nor the community, but instead reflect the needs of the prison in which they are situated. There is a recognised failure to divert at earlier points in the criminal justice pathway, which may be a consequence of national failure to fund services properly. Hosptial treatment is often delayed. Copyright © 2010 John Wiley & Sons, Ltd.
Cytotoxic Titanium Salan Complexes: Surprising Interaction of Salan and Alkoxy Ligands
Authors: Immel Timo A. , Groth Ulrich , Huhn Thomas 
Published: January 2010

AbstractThe synthesis, biochemical evaluation, and hydrolysis studies of a wide selection of alkyl‐ and halogen‐substituted titanium salan alkoxides are presented herein. A systematic change in the employed alkoxides revealed that both the bulk of the salan ligands and the steric demand of the labile ligands are of great importance for the obtained biological activity. Surprisingly, these two factors are not independent from each other; lowering the steric demand of the alkoxide of a hitherto nontoxic complex renders it cytotoxic. Therefore, our data suggest that the overall size of the complex exerts a strong influence on its biological activity. To decide whether the correlation between the cytotoxicity and the steric demand of the whole complex is merely based on an altered hydrolysis or on the interaction with biomolecules, the behavior of selected complexes under hydrolytic conditions and the influence of transferrin were investigated. Complexes differing only in their labile alkoxy ligands gave the same hydrolysis products with similar hydrolysis rates but displayed cytotoxicities that differed in the range of one order of magnitude. Thus, it seems that the hydrolysis product is not the active species but rather that the unhydrolysed complex is important for the first interaction with a biomolecule. This promoted the idea of hydrolysis being a detoxification pathway. In accordance with the above conclusion, chloro‐substituted complex [Ti(PhClNMe)2(OiPr)2] displayed a high cytotoxicity (IC50≈5 μM) and surprisingly high hydrolytic stability (t1/2=108 h). These findings, together with the observed cytotoxicity in a cisplatin‐resistant cell line, make halo‐substituted salan complexes an interesting target for further studies.
Dihydronaphthalene‐Fused Boron–Dipyrromethene (BODIPY) Dyes: Insight into the Electronic and Conformational Tuning Modes of BODIPY Fluorophores
Authors: Wang Yan‐Wei , Descalzo Ana B. , Shen Zhen , You Xiao‐Zeng , Rurack Knut 
Published: January 2010

AbstractA new series of boron–dipyrromethene (BDP, BODIPY) dyes with dihydronaphthalene units fused to the β‐pyrrole positions (1 a–d, 2) has been synthesised and spectroscopically investigated. All the dyes, except pH‐responsive 1 d in polar solvents, display intense emission between 550–700 nm. Compounds 1 a and 1 b with a hydrogen atom and a methyl group in the meso position of the BODIPY core show spectroscopic properties that are similar to those of rhodamine 101, thus rendering them potent alternatives to the positively charged rhodamine dyes as stains and labels for less polar environments or for the dyeing of latex beads. Compound 1 d, which carries an electron‐donating 4‐(dimethylamino)phenyl group in the meso position, shows dual fluorescence in solvents more polar than dibutyl ether and can act as a pH‐responsive “light‐up” probe for acidic pH. Correlation of the pKa data of 1 d and several other meso‐(4‐dimethylanilino)‐substituted BODIPY derivatives allowed us to draw conclusions on the influence of steric crowding at the meso position on the acidity of the aniline nitrogen atom. Preparation and investigation of 2, which carries a nitrogen instead of a carbon as the meso‐bridgehead atom, suggests that the rules of colour tuning of BODIPYs as established so far have to be reassessed; for all the reported couples of meso‐C‐ and meso‐N‐substituted BODIPYs, the exchange leads to pronounced redshifts of the spectra and reduced fluorescence quantum yields. For 2, when compared with 1 a, the opposite is found: negligible spectral shifts and enhanced fluorescence. Additional X‐ray crystallographic analysis of 1 a and quantum chemical modelling of the title and related compounds employing density functional theory granted further insight into the features of such sterically crowded chromophores.
Redox Reaction of the Pd0 Complex Bearing the Trost Ligand with meso‐Cycloalkene‐1,4‐biscarbonates Leading to a Diamidato PdII Complex and 1,3‐Cycloalkadienes: Enantioselective Desymmetrization Versus Catalyst Deactivation
Authors: Tsarev Vasily N. , Wolters Dennis , Gais Hans‐Joachim 
Published: January 2010

AbstractThe Pd0 complex 1 that bears the Trost ligand 2 undergoes a facile redox reaction with 1,4‐biscarbonates 5 b–d and rac‐22 under formation of the diamidato–PdII complex 7 and the corresponding 1,3‐cycloalkadienes 8 b–d. The redox deactivation of complex 1 was the dominating pathway in the reaction of 5 b–d with HCO3− at room temperature. However, at 0 °C the six‐membered biscarbonate 5 b, catalytic amounts of complex 1, and HCO3− mainly reacted in an allylic alkylation, which led to a highly selective desymmetrization of the substrate and gave alcohol 6 b with ≥99 % ee in 66 % yield. An increase of the catalyst loading in the reaction of 5 b with 1 and HCO3− afforded the bicyclic carbonate 12 b (96 % ee, 92 %). Formation of carbonate 12 b involves two consecutive inter‐ and intramolecular substitution reactions of the π‐allyl–PdII complexes 16 b and 18 b, respectively, with O‐nucleophiles and presumably proceeds through the hydrogen carbonate 17 b as key intermediate. The intermediate formation of 17 b is also indicated by the conversion of alcohol rac‐6 b to carbonate 12 b upon treatment with HCO3− and 1. The Pd0‐catalyzed desymmetrization of 5 b with formation of 12 b and its hydrolysis allow an efficient enantioselective synthesis of diol 13 b. The reaction of the seven‐membered biscarbonate 5 c with ent‐1 and HCO3− afforded carbonate ent‐12 c (99 % ee, 39 %). The Pd0 complex 1 is stable in solution and suffers no intramolecular redox reaction with formation of complex 7 and dihydrogen as recently claimed for the similar Pd0 complex 9. Instead, complex 1 is rapidly oxidized by dioxygen to give the stable PdII complex 7. Thus, formation of the PdII complex 10 from 9 was most likely due to an oxidation by dioxygen. Oxidative workup (air) of the reaction mixture stemming from the desymmetrization of 5 c catalyzed by 1 gave the PdII complex 7 in high yield besides carbonate 12 c.
Hydrodynamic characteristics of gas–solid fluidization at high temperature
Authors: Sanaei Shabnam , Mostoufi Navid , Radmanesh Ramin , Sotudeh‐Gharebagh Rahmat , Guy Christophe , Chaouki Jamal 
Published: January 2010

AbstractEffect of temperature on the hydrodynamics of bubbling gas–solid fluidized beds was investigated in this work. Experiments were carried out at different temperatures ranged of 25–600°C and different superficial gas velocities in the range of 0.17–0.78 m/s with sand particles. The time‐position trajectory of particles was obtained by the radioactive particle tracking technique at elevated temperature. These data were used for determination of some hydrodynamic parameters (mean velocity of upward and downward‐moving particles, jump frequency, cycle frequency, and axial/radial diffusivities) which are representative to solids mixing through the bed. It was shown that solids mixing and diffusivity of particles increases by increasing temperature up to around 300°C. However, these parameters decrease by further increasing the temperature to higher than 300°C. This could be attributed to the properties of bubble and emulsion phases. Results of this study indicated that the bubbles grow up to a maximum diameter by increasing the temperature up to 300°C, after which the bubbles become smaller. The results showed that due to the wall effect, there is no significant change in the mean velocity of downward‐moving clusters. In order to explain these trends, surface tension of emulsion between the rising bubble and the emulsion phase was introduced and evaluated in the bubbling fluidized bed. The results showed that surface tension between bubble and emulsion is increased by increasing temperature up to 300°C, however, after that it acts in oppositely.
Fluidization characteristics of rice husk in a bubbling fluidized bed
Authors: Leon M. A. , Dutta A. 
Published: January 2010

AbstractAn investigation was carried out in a circulating fluidized bed to explore if rice husk could be fluidized without mixing it with any foreign solids. Experimental results indicate that bed cross‐section has an important influence on the fluidization characteristics of rice husk. Larger the cross‐section, easier it is to fluidize the husk without slugging. Particle size, sphericity, bulk density, and transport velocity of husk were measured. The riser was operated under bubbling bed regimes. Efforts were made to measure the minimum fluidization velocity by varying the bed depth and cross‐section.
Solubilities of norfloxacin in ethanol, 1‐propanol, acetone, and chloroform from 294.15 to 318.15 K
Authors: Zhang Cong‐Liang , Li Bao‐Ying , Wang Yan 
Published: January 2010

AbstractThe solubilities of norfloxacin in ethanol, 1‐propanol, acetone, and chloroform have been determined from 294.15 to 318.15 K by a static equilibrium method. The experimental results showed that the solubilities of norfloxacin in ethanol, 1‐propanol, acetone, and chloroform were all small, and increased slightly with the increase of the temperature, respectively. Under the same temperature, the decrease order of solubility of norfloxacin in the different solvents is 1‐propanol, chloroform, ethanol, and acetone. The experimental data were correlated with the modified Apelblat equation.
Crystalline BaTiO3 synthesis by ultrasound and microwave‐assisted sol–gel process
Authors: Pozan Gülin Selda , Boz İsmail 
Published: January 2010

AbstractHighly crystalline BaTiO3 particles were prepared by sol–gel process. Ultrasound and microwave techniques were used to facilitate the synthesis of BaTiO3. BaTiO3 samples were characterized by X‐ray diffraction (XRD), scanning electron microscopy (SEM), particle size analyser, and high temperature differential scanning calorimetry/thermogravimetric analysis (DSC/TGA). The results indicate that both barium and titanium sources and preparation techniques affected BaTiO3 purity and crystallite size. The smallest particle and crystallite sizes were obtained by using BaCl2 and (C4H9O)4Ti and the crystallite size of BaTiO3 was 8 ± 1 nm via MW technique.
Separation of cadmium(II) from spent nickel/cadmium battery by emulsion liquid membrane
Authors: Yanlin Zhang , Peihong Liu , Qiuyun Zhang , Wen Cheng 
Published: January 2010

AbstractExperiments were conducted to investigate the separation of cadmium(II) from spent nickel/cadmium battery by emulsion liquid membrane. Liquid membrane mainly consisted of a diluent (kerosene), a surfactant (Span 80), a carrier (di(2‐ethylhexyl) phosphoric acid, D2EHPA) and an internal phase (sulfuric acid). Main research effort was focused on the identification of optimal parameters affecting the separation process, such as D2EHPA (4.4 vol%), Span 80 (6.6 vol%), pH in the external phase (3.0), treat ratio (0.4), agitation time (10 min), and sulfuric acid concentration (1500 mol/m3). With the selected emulsion liquid membrane to separate cadmium(II) from the leaching solution of spent nickel/cadmium battery, the fraction extracted of cadmium(II) ions (0.963) was much more than that of nickel(II) ions (0.026). The organic membrane phase after demulsification was re‐mulsification and recycled up to eight times.