bluuebunny/crossref_metadata_2025 huggingface dataset:
Regionalisation for lake level simulation – the case of Lake Tana in the Upper Blue Nile, Ethiopia
Authors: Rientjes T. H. M. , Perera B. U. J. , Haile A. T. , Reggiani P. , Muthuwatta L. P.
Published: April 2011

Abstract. In this study lake levels of Lake Tana are simulated at daily time step by solving the water balance for all inflow and outflow processes. Since nearly 62% of the Lake Tana basin area is ungauged a regionalisation procedure is applied to estimate lake inflows from ungauged catchments. The procedure combines automated multi-objective calibration of a simple conceptual model and multiple regression analyses to establish relations between model parameters and catchment characteristics. A relatively small number of studies are presented on Lake Tana's water balance. In most studies the water balance is solved at monthly time step and the water balance is simply closed by runoff contributions from ungauged catchments. Studies partly relied on simple ad-hoc procedures of area comparison to estimate runoff from ungauged catchments. In this study a regional model is developed that relies on principles of similarity of catchments characteristics. For runoff modelling the HBV-96 model is selected while multi-objective model calibration is by a Monte Carlo procedure. We aim to assess the closure term of Lake Tana's water balance, to assess model parameter uncertainty and to evaluate effectiveness of a multi-objective model calibration approach to make hydrological modeling results more plausible. For the gauged catchments, model performance is assessed by the Nash-Sutcliffe coefficient and Relative Volumetric Error and resulted in satisfactory to good performance for six, large catchments. The regional model is validated and indicated satisfactory to good performance in most cases. Results show that runoff from ungauged catchments is as large as 527 mm per year for the simulation period and amounts to approximately 30% of Lake Tana stream inflow. Results of daily lake level simulation over the simulation period 1994–2003 show a water balance closure term of 85 mm per year that accounts to 2.7% of the total lake inflow. Lake level simulations are assessed by Nash Sutcliffe (0.91) and Relative Volume Error (2.71%) performance measures.
Rainfall-runoff modelling and palaeoflood hydrology applied to reconstruct centennial scale records of flooding and aquifer recharge in ungauged ephemeral rivers
Authors: Benito G. , Botero B. A. , Thorndycraft V. R. , Rico M. , Sánchez-Moya Y. , Sopeña A. , Machado M. J. , Dahan O.
Published: April 2011

Abstract. In this study we propose a multi-source data approach for quantifying long-term flooding and aquifer recharge in ungauged ephemeral rivers. The methodology is applied to the Buffels River, at 9000 km2 the largest ephemeral river in Namaqualand (NW South Africa), a region with scarce stream flow records limiting research investigating hydrological response to global change. Daily discharge and annual flood series (1965–2006) were estimated from a distributed rainfall-runoff hydrological model (TETIS) using rainfall gauge records located within the catchment. The model was calibrated and validated with data collected during a two year monitoring programme (2005–2006) at two stream flow stations, one each in the upper and lower reaches of the catchment. In addition to the modelled flow records, non-systematic flood data were reconstructed using both sedimentary and documentary evidence. The palaeoflood record identified at least 25 large floods during the last 700 yr; with the largest floods reaching a minimum discharge of 255 m3 s−1 (450 yr return period) in the upper basin, and 510 m3 s−1 (100 yr return period) in the lower catchment. Since AD 1925, the flood hydrology of the Buffels River has been characterised by a decrease in the magnitude and frequency of extreme floods, with palaeoflood discharges (period 1500–1921) five times greater than the largest modelled floods during the period 1965–2006. Large floods generated the highest hydrograph volumes, however their contribution to aquifer recharge is limited as this depends on other factors such as flood duration and storage capacity of the unsaturated zone prior to the flood. Floods having average return intervals of 5–10 yr (120–140 m3 s−1) and flowing for 12 days are able to fully saturate the Spektakel aquifer in the lower Buffels River basin. Alluvial aquifer storage capacity limiting potential recharge by the largest floods is a common problem in arid environments, with the largest infiltration volumes favoured by increasing depth to groundwater levels.
Modern comprehensive approach to monitor the morphodynamic evolution of a restored river corridor
Authors: Pasquale N. , Perona P. , Schneider P. , Shrestha J. , Wombacher A. , Burlando P.
Published: April 2011

Abstract. River restoration has become a common measure to repair anthropogenically-induced alteration of fluvial ecosystems. The inherent complexity of ecohydrologic systems leads to limitations in understanding the response of such systems to restoration over time. Therefore, a significant effort has been dedicated in the recent years worldwide to document the efficiency of restoration actions and to produce new effective guidelines that may help overcoming existing deficiencies. At the same time little attention was paid to illustrate the reasons and the use of certain monitoring and experimental techniques in spite of others, or in relation to the specific ecohydrologic process being investigated. The purpose of this paper is to enrich efforts in this direction by presenting the framework of experimental activities and the related experimental setup that we designed and installed in order to accomplish some of the research tasks of the multidisciplinary scientific project RECORD (Restored Corridor Dynamics). Therein, we studied the morphodynamic evolution of the restored reach of the River Thur near Niederneunforn (Switzerland), also in relation to the role of pioneer vegetation roots in stabilizing the alluvial sediment. In this work we describe the methodology chosen for monitoring the river morphodynamics, the dynamics of riparian and of in-bed vegetation and their mutual interactions, as well as the need of complementing such observations with experiments and with the hydraulic modeling of the site. We also discuss how the designed installation and the experiments integrate with the needs of other research groups within the project, in particular providing data for a number of investigations thereby including surface water and groundwater interactions, soil moisture and vegetation dynamics.
The Corail® stem for the treatment of displaced femoral neck fractures - a viable alternative?
Authors: Cawley Derek T. , Curtin Paul D. , Lohan Derek , O'Sullivan Michael , Curtin William
Published: April 2011

Cementless hemiarthroplasty in hip fracture surgery has been associated with poorer outcomes and more pain than cemented hemiarthroplasty. The aim was to investigate clinical and radiographic outcomes for a cementless tapered titanium fully hydroyxapatite-coated (Corail® System) stem in this consecutive cohort of hip fracture patients.

We retrospectively evaluated the results of 68 consecutive elderly patients with displaced intracapsular hip fractures, treated with this implant. Mean clinical follow-up was 4.3 years (2–6 years). One-year mortality was 24%. 95% of patients had no/occasional/mild mid-thigh pain, with moderate pain in 5%. 39% achieved independent or walking-stick mobility. 36 patients had follow-up radiography. Osseointegration was noted in 34, with a mixed bony/fibrous in-growth in 2. One patient had revision for subsidence of an undersized implant, with no conversions to total hip arthroplasty. The Corail® stem can be used effectively for the treatment of femoral neck fractures in the elderly.
A Girl with Cutaneous Lesions, Polyarthritis, and Antinuclear Antibodies Positivity
Authors: Musuruana Jorge L. , Cavallasca Javier A.
Published: April 2011

On October 1996, a 14-year-old girl was admitted to the hospital because cutaneous lesions, asthenia, and arthralgias. On examination, there was nonscarring hair thinning with a widened part over the frontal hairline, polymorphic papulosquamous rash on her face, neck, arms, and trunk, and livedo reticularis in her legs. Multiple aphtous ulcers were present on the buccal and nasal mucosa. There was polyarthritis involving the wrist, metacarpophalangeal joints, proximal interphalangeal joints, and metatarsophalangeal joints of both hands and feet. Skin biopsy of the face was compatible with subacute cutaneous lupus erythematosus. She started on prednisone 60 mg/d without improvement, and later hdroxhchloroquine (HCQ) 6 mg/kg/d was added for one year. Cutaneous lesions were almost healed, with just a hypopigmented macules left. Over the last 14 years, she has not shown any cutaneous or systemic manifestations.
Hybrid Colloidal Heterostructures of Anisotropic Semiconductor Nanocrystals Decorated with Noble Metals: Synthesis and Function
Authors: Vaneski Aleksandar , Susha Andrei S. , Rodríguez‐Fernández Jessica , Berr Maximilian , Jäckel Frank , Feldmann Jochen , Rogach Andrey L.
Published: April 2011

This Feature Article offers an overview of hybrid colloidal heterostructures of anisotropic semiconductor nanocrystals decorated with metals; primarily gold and platinum. The nonspherical shapes of the semiconductor components create a great variety of metal‐decorated hybrid nanostructures, whose synthesis and morphology are considered here. Due to the current interest in photocatalytic systems able to utilize solar energy for water‐splitting, the use of Pt‐decorated CdS‐based nanorods for hydrogen generation is specifically addressed. Great flexibility of the colloidal synthesis leading to well‐defined hybrid semiconductor–metal nanostructures drastically increases the possibility of their integration into functional nanosystems with novel synergetic properties, making them promising candidates for a variety of photovoltaic, catalytic, and sensing applications.
Well‐Ordered Large‐Pore Mesoporous Anatase TiO2 with Remarkably High Thermal Stability and Improved Crystallinity: Preparation, Characterization, and Photocatalytic Performance
Authors: Zhou Wei , Sun Fanfei , Pan Kai , Tian Guohui , Jiang Baojiang , Ren Zhiyu , Tian Chungui , Fu Honggang
Published: April 2011

Thermally‐stable, ordered mesoporous anatase TiO2 with large pore size and high crystallinity has been successfully synthesized through an evaporation‐induced self‐assembly technique, combined with encircling ethylenediamine (EN) protectors to maintain the liquid crystal mesophase structure of TiO2 primary particles, followed by calcination at higher temperature. The structures of the prepared mesoporous TiO2 are characterized in detail by small‐angle and wide‐angle X‐ray diffraction, Raman spectra, N2 adsorption/desorption isotherms, and transmission electron microscopy. Experimental results indicate that the well‐ordered mesoporous structure could be maintained up to 700 °C (M700) and also possesses large pore size (10 nm), high specific BET surface area (122 m2 g−1), and high total pore volumes (0.20 cm3 g−1), which is attributed to encircling EN protectors for maintaining the mesoporous framework against collapsing, inhibiting undesirable grain growth and phase transformation during the calcination process. A possible formation mechanism for the highly stable large‐pore mesoporous anatase TiO2 is also proposed here, which could be further confirmed by TG/FT‐IR in site analysis and X‐ray photoelectron spectroscopy. The obtained mesoporous TiO2 of M700 exhibit better photocatalytic activity than that of Degussa P25 TiO2 for degradation of highly toxic 2,4‐dichlorophenol under UV irradiation. This enhancement is attributed to the well‐ordered large‐pore mesoporous structure, which facilitates mass transport, the large surface area offering more active sites, and high crystallinity that favors the separation of photogenerated electron‐hole pairs, confirmed by surface photovoltage spectra.
Ultrathin SWNT Films with Tunable, Anisotropic Transport Properties
Authors: Li Bo , Jung Hyun Young , Wang Hailong , Kim Young Lae , Kim Taehoon , Hahm Myung Gwan , Busnaina Ahmed , Upmanyu Moneesh , Jung Yung Joon
Published: April 2011

Directional transport properties at the nanoscale remain a challenge, primarily due to issues pertaining to control over the underlying anisotropy and scalability to macroscopic scales. Here, we develop a facile approach based on template‐guided fluidic assembly of high mobility building blocks – single walled carbon nanotubes (SWNTs) – to fabricate ultrathin and anisotropic SWNTs films. A major advancement is the complete control over the anisotropy in the assembled nanostructure, realized by three‐dimensional engineering of the dip‐coated SWNTs ultrathin film into alternating hydrophilic and hydrophobic microline patterns with prescribed intra/inter‐line widths and line thicknesses. Variations in the contact line profile results in an evaporation‐controlled assembly mechanism that leads to alternating, and more importantly, contiguous SWNTs networks. Evidently, the nanoscopic thickness modulations are direct reflections of the substrate geometry and chemistry. The nanostructured film exhibits significant anisotropy in electrical and thermal transport properties as well as an optically transparent nature, as revealed by characterization studies. The direct interplay between the anisotropy and the 3D microline patterns of the substrate combined with the wafer‐level scalability of the fluidic assembly allows us to tune the transport properties for a host of nanoelectronic applications.
Nanoscale Characterization of Energy Generation from Piezoelectric Thin Films
Authors: Bhaskaran Madhu , Sriram Sharath , Ruffell Simon , Mitchell Arnan
Published: April 2011

We report on the use of nanoindentation to characterize in situ the voltage and current generation of piezoelectric thin films. This work presents the controlled observation of nanoscale piezoelectric voltage and current generation, allowing accurate quantification and mapping of force function variations. We characterize both continuous thin films and lithographically patterned nano­islands with constrained interaction area. The influence of size on energy generation parameters is reported, demonstrating that nanoislands can exhibit more effective current generation than continuous films. This quantitative finding suggests that further research into the impact of nanoscale patterning of piezoelectric thin films may yield an improved materials platform for integrated microscale energy scavenging systems.
Bulk Heterojunction Organic Photovoltaics Based on Carboxylated Polythiophenes and PCBM on Glass and Plastic Substrates
Authors: Worfolk Brian J. , Rider David A. , Elias Anastasia L. , Thomas Michael , Harris Kenneth D. , Buriak Jillian M.
Published: April 2011

The optoelectronic and photophysical properties of four regioregular poly[3‐(carboxyalkyl)thiophene‐2,5‐diyl] (P3CAT) with different carboxyalkyl chain lengths (propyl to hexyl) are reported. Each P3CAT is combined with [6,6]‐phenyl‐C61‐butyric acid methyl ester to form the photoactive bulk heterojunction layer for organic photovoltaic devices. The extent of hydrogen bonding and polymer crystallinity in the films has been determined through infrared spectroscopy and X‐ray diffraction. The mechanical properties of films are analyzed with nanoindentation, and the measurements suggest that P3CATs are suitable for use in flexible devices. Power conversion efficiencies of up to 2.6% and 1.6% are obtained for devices fabricated in air, and supported on glass and flexible poly(ethylene terephthalate) substrates, respectively.
Organic Electronics: Non‐conventional Processing and Post‐processing Methods for the Nanostructuring of Conjugated Materials for Organic Electronics (Adv. Funct. Mater. 7/2011)
Authors: De Luca Giovanna , Pisula Wojciech , Credgington Dan , Treossi Emanuele , Fenwick Oliver , Lazzerini Giovanni Mattia , Dabirian Reza , Orgiu Emanuele , Liscio Andrea , Palermo Vincenzo , Müllen Klaus , Cacialli Franco , Samorì Paolo
Published: April 2011

In the search for new ways to combine the appealing simplicity of solution processing methods and the need for a high performance of the active layer of organic (opto)electronic devices, the possibilities given by the joint use of well‐established casting techniques and post‐treatment procedures are explored, as well as new and unconventional deposition protocols to tailor self‐assembled architectures with a high degree of order at different length scales, from the subnanometer up to the macroscopic scale. In fact, even the same organic molecule can give rise to different molecular architectures which, in turn, may offer the possibility to exploit a large variety of new functionalities of the deposited materials, paving the way towards the fabrication multifunctional organic‐based devices.
Rigorous modeling of the kinetics of calcium carbonate deposit formation
Authors: Segev Raviv , Hasson David , Semiat Raphael
Published: April 2011

The complexity of CaCO3 deposit formation on a flow surface arises from the need to take into account the multicomponent transport of all ionic species involved in the carbonic system. Several semitheoretical and empirical models are available. This article presents a rigorous kinetic model that takes into account the diffusional transport of all species involved in CaCO3 wall deposition under turbulent flow as well as the kinetics of the CaCO3 crystallization reaction. Conditions under which high‐ and low‐pH simplified expressions may be used are evaluated. It is shown that the simplified precipitation rate equations provide results within 10% of the rigorous solution when the high‐pH expression is applied for solutions at pH levels above 9.5, and the low‐pH expression is applied for solutions at pH levels below 7.6. © 2011 American Institute of Chemical Engineers AIChE J, 2012
CFD simulation of gas and solids mixing in FCC strippers
Authors: Liu Yingjie , Lan Xingying , Xu Chunming , Wang Gang , Gao Jinsen
Published: April 2011

The gas and solid mixing in fluid catalytic cracking strippers with and without internals were investigated using computational fluid dynamics simulations. The Eulerian–Eulerian two‐fluid model coupled with the modified Gidaspow drag model was used to simulate the gas‐solid flow behavior. The grid independency study and the comparison of 2D and 3D simulations were carried out first. The residence time distribution model and axial dispersion model were utilized to obtain the parameters indicating the back‐mixing degree, such as mean residence time, dimensionless variance and Peclet number of gas and solids. Moreover, the influence of bubble size and gas/solid flow distribution on the mass transfer between the bubble and emulsion phase were also analyzed. The results show that the baffles in the V‐baffle stripper can efficiently enhance the gas and solids mixing, reduce the back‐mixing degree of gas and solids, strengthen the mass transfer between the bubble and emulsion phase, and hence improve the stripping efficiency. © 2011 American Institute of Chemical Engineers AIChE J, 2012
Obtaining protein solvent accessible surface area when structural data is unavailable using osmotic pressure
Authors: Mc Bride Devin W. , Rodgers V. G. J.
Published: April 2011

Here, we provide an algorithm that predicts solvent accessible surface area (SASA) using concentrated solution osmotic pressure data. Sheep hemoglobin monomer and β‐lactoglobulin are used for verification. Additionally, SASA for structurally unknown calf lens α‐crystallin aggregate is predicted. Using osmotic pressure data, the predicted SASA value for sheep hemoglobin, 22,398 ± 1,244 Å2, was in excellent agreement with computational model predictions (24,304 Å2‐26,100 Å2). Similarly, predicted SASA values for bovine β‐lactoglobulin in pH solutions of pH 5.1, 6.0, and 8.0, were 5,765 ± 1,031 Å2, 6,656 ± 1,082 Å2, and 9,141 ± 1,060 Å2, respectively, were in good agreement with the computationally determined SASA value (7,500 Å2–8,628 Å2). Predicted SASA for the aggregate of calf lens α‐crystallin (800 kDa) was found to be 417,691 ± 16,790 Å2. These results illustrate that this novel method can provide an important experimental alternative in estimating SASA for proteins and, possibly, their complexes in solution. © 2011 American Institute of Chemical Engineers AIChE J, 2012
The role of 18F‐FDG PET/CT imaging in Waldenstrom macroglobulinemia
Authors: Banwait Ranjit , O'Regan Kevin , Campigotto Federico , Harris Brianna , Yarar Dilek , Bagshaw Meghan , Leleu Xavier , Leduc Renee , Ramaiya Nikhil , Weller Edie , Ghobrial Irene M.
Published: April 2011

Disease assessment in WM is dependent on the quantification of the IgM monoclonal protein and percent involvement of the bone marrow. There is a need for imaging studies that objectively measure tumor load in these patients. In this study, we sought to examine the role of combined FDG‐PET/CT imaging in the detection of tumor load and in the assessment of response to therapy. Thirty‐five patients were enrolled on a prospective study using bortezomib and rituximab therapy and were included in this study because they completed a pre‐ and post‐treatment FDG‐PET/CT imaging at one facility (12 newly diagnosed and 23 relapsed/refractory). The use of combined FDG‐PET/CT imaging showed positive findings in 83% of patients with WM, unlike prior studies using conventional imaging that indicate that only 20% of patients have lymphadenopathy or hepatosplenomegaly. Moreover, 43% of patients had abnormal bone marrow uptake on FDG‐PET imaging that can potentially help in the assessment of their tumor load, especially with heterogenous sampling of the bone marrow. There was no statistical correlation between EORTC response criteria for FDG‐PET/CT and response by monoclonal protein. This is the first study to examine the role of FDG‐PET/CT imaging in WM. Future studies should examine the role of FDG‐PET/CT in conjunction with monoclonal protein response in the assessment of progression‐free survival in patients with WM. Am. J. Hematol., 2011. © 2011 Wiley‐Liss, Inc.
Biomarkers for early detection of sickle nephropathy
Authors: Sundaram Nambirajan , Bennett Michael , Wilhelm Jamie , Kim Mi‐Ok , Atweh George , Devarajan Prasad , Malik Punam
Published: April 2011

Renal complications affect nearly 30–50% of adults with sickle cell anemia (SCA), causing significant morbidity and mortality. Standard renal function tests like serum creatinine and glomerular filtration rate become abnormal in this disease only when renal damage has become extensive and largely irreversible. Moreover, not all patients develop sickle nephropathy (SN). Therefore, noninvasive biomarkers that predict early onset of SN are necessary. We performed a cross‐sectional analysis for nephropathy in 116 patients with sickle cell disease, analyzing urinary kidney injury molecule‐1 (KIM‐1), liver‐type fatty acid binding protein (L‐FABP), N‐acetyl‐b‐D‐glucosaminidase (NAG), neutrophil gelatinase‐associated lipocalin (NGAL) and transforming growth factor‐β1 (TGF‐β), together with conventional renal biomarkers (urine albumin and osmolality, and serum creatinine and cystatin C estimated GFR) during routine clinic visits when patients were at steady‐state/baseline. We observed a distinct biomarker pattern: KIM‐1 and NAG emerged as biomarkers with a strong association with albuminuria. Surprisingly, and in contrast to other acute/chronic renal disorders, NGAL, L‐FABP, and TGF‐β levels did not show any relationship with albuminuria in patients with SCA. Our study identifies potential biomarkers for SN, and suggests longitudinal validation of these biomarkers for early detection of SN, so that therapeutic interventions can be applied before renal damage becomes irreversible. Am. J. Hematol. 2011. © 2011 Wiley‐Liss, Inc.
The effects of time and intensity of exercise on novel and established markers of CVD in adolescent youth
Authors: Buchan Duncan S. , Ollis Stewart , Young John D. , Thomas Non E. , Cooper Stephen‐Mark , Tong Tom K. , Nie Jinlei , Malina Robert M. , Baker Julien S
Published: April 2011

Objectives:

This article examines the effects of brief, intense exercise in comparison with traditional endurance exercise on both novel and traditional markers of cardiovascular disease (CVD) in youth.

Methods:

Forty seven boys and ten girls (16.4 ± 0.7 years of age) were divided into a moderate (MOD), high intensity (HIT), or a control group. The MOD group (12 boys, 4 girls) and HIT group (15 boys, 2 girls) performed three weekly exercise sessions over 7 weeks. Each session consisted of either four to six repeats of maximal sprint running within a 20 m area with 20–30 s recovery (HIT) or 20 min continuous running within a 20 m area at ∼70% maximal oxygen uptake (VO2max).

Results:

Total exercise time commitment over the intervention was 420 min (MOD) and 63 min (HIT). Training volume was 85% lower for the HIT group. Total estimated energy expenditure was ∼907.2 kcal (HIT) and ∼4410 kcal (MOD). Significant improvements (P ≤ 0.05) were found in systolic blood pressure, aerobic fitness, and body mass index (BMI) postintervention (HIT). In the MOD group, significant (P ≤ 0.05) improvements were noted in aerobic fitness, percentage body fat (%BF), BMI, fibrinogen (Fg), plasminogen activator inhibitor‐1, and insulin concentrations.

Conclusions:

These findings demonstrate that brief, intense exercise is a time efficient means for improving CVD risk factors in adolescents. Am. J. Hum. Biol., 2011. © 2011 Wiley‐Liss, Inc.
Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21‐22.1 locus
Authors: Prontera Paolo , Rogaia Daniela , Sobacchi Cristina , Tavares Vanessa Luiza Romanelli , Mazzotta Giovanni , Passos‐Bueno Maria Rita , Donti Emilio
Published: April 2011

Craniotubular dysplasias (CTD) are a heterogeneous group of genetic disorders of skeletal development, whose clinical and etiological classification is still much debated. One of the most common form is the autosomal dominant craniometaphyseal dysplasia (CMD) which is associated with mutation in the ANKH gene. In the literature a few families are reported with CMD phenotype that suggest an autosomal recessive (AR) pattern of inheritance. A candidate locus at 6q21‐22 has been mapped in a large inbred Brazilian family, but the gene of the recessive form is still unknown. Our data on a female patient with CMD phenotype, born from healthy first degree cousins and displaying homozygosity for polymorphic markers at the 6q21‐22 locus, further support the existence of an AR CMD, expanding its clinical spectrum to a more severe phenotype. © 2011 Wiley‐Liss, Inc.
Vestibular dysfunction in DFNB1 deafness
Authors: Dodson Kelley M. , Blanton Susan H , Welch Katherine O , Norris Virginia W , Nuzzo Regina L , Wegelin Jacob A. , Marin Ruth S , Nance Walter E , Pandya Arti , Arnos Kathleen S
Published: April 2011

Mutations of GJB2 and GJB6 (connexin‐26 and 30) at the DFNB1 locus are the most common cause of autosomal recessive, nonsyndromic deafness. Despite their widespread expression throughout the vestibular system, vestibular dysfunction has not been widely recognized as a commonly associated clinical feature. The observations of vertigo accompanying DFNB1 deafness in several large families prompted our hypothesis that vestibular dysfunction may be an integral, but often overlooked, component of DFNB1 deafness. Our aim was to define the prevalence of vestibular dysfunction in Cases of DFNB1 deafness and Controls with other forms of deafness. We developed and used a survey to assess symptoms of vestibular dysfunction, medical, and family history was distributed to Cases with deafness due to pathogenic GJB2 and/or GJB6 mutations and deaf Controls without DFNB1 deafness. Our results showed: Surveys were returned by 235/515 Cases (46%) with DFNB1 mutations and 121/321 Controls (38%) without these mutations. The mean age of Cases (41) was younger than Controls (51; P < 0.001). Vestibular dysfunction was reported by 127 (54%) of Cases and was present at significantly higher rates in Cases than in deaf Controls without DFNB1 deafness (P < 0.03). Most (63%) had to lie down in order for vertigo to subside, and 48% reported that vertigo interfered with activities of daily living. Vertigo was reported by significantly more Cases with truncating than non‐truncating mutations and was also associated with a family history of dizziness. We conclude that vestibular dysfunction appears to be more common in DFNB1 deafness than previously recognized and affects activities of daily living in many patients. © 2011 Wiley‐Liss, Inc.
From VACTERL‐H to heterotaxy: Variable expressivity of ZIC3—related disorders
Authors: Chung Brian , Shaffer Lisa G. , Keating Sarah , Johnson Joan , Casey Bret , Chitayat David
Published: April 2011

The ZIC3 gene encodes a zinc finger protein which functions as a transcription factor in early stages of left‐right body axis formation. Mutations in this X‐linked gene cause a variety of clinical manifestations including heterotaxy, complex or isolated heart defect as well as other midline urogenital and hindgut malformations. We report a four generation family with X‐linked heterotaxy associated with a deletion of the ZIC3 gene at Xq26.3. The index fetus of our proband showed classical features of heterotaxy while her maternal uncle and one brother had imperforate anus and her other brother had features suggestive of VACTERL‐H without heterotaxy. A 1.4 Mb deletion in Xq26.3 including the ZIC3 gene was found in the fetus. Six females in the family were found to be asymptomatic carriers. Our report indicates that some of the cases with VACTERL‐H syndrome may be caused by a mutation or deletion of the ZIC3 gene. © 2011 Wiley‐Liss, Inc.
PTPN11 gene mutation associated with abnormal gonadal determination
Authors: Jain Ghai Shailly , Keating Sarah , Chitayat David
Published: April 2011

Germline mutations in thePTPN11gene have been associated with Noonan syndrome (NS) and LEOPARD syndrome. Both germline and somatic mutations in this gene have been reported in association with malignancies. However, theT507Kmutation in thePTPN11gene, has only been reported in malignancies and in a fetus with hydrops fetalis but not in a live patient with NS. We report the autopsy findings in a fetus with theT507Kmutation who presented prenatally with hydrops fetalis, cystic hygroma and 46, XX karyotype. On autopsy, the patient was found to have testes, male external genitalia, but absent Wolffian ducts. © 2011 Wiley‐Liss, Inc.
Epidemiology of Ebstein anomaly: Prevalence and patterns in Texas, 1999–2005
Authors: Lupo Philip J. , Langlois Peter H. , Mitchell Laura E.
Published: April 2011

Ebstein anomaly is a rare but serious cardiac defect, however, little is known about the etiology of this condition. The goal of this study was to expand our limited understanding of the epidemiology of Ebstein anomaly. Data for cases with Ebstein anomaly, as well as all live births, were obtained from the Texas Birth Defects Registry (TBDR) and Center for Health Statistics for the period 1999–2005. Descriptive analyses and estimates of birth prevalence and crude prevalence ratios were used to characterize this defect in Texas during the study period. There were 188 definite cases of Ebstein anomaly identified in the TBDR. The overall prevalence was 0.72 per 10,000 live births. Variables associated with an increased prevalence of non‐syndromic Ebstein anomaly included: maternal age >39 years (compared to those 20–24 years), maternal residence along the Texas–Mexico border (compared to non‐border residence), and conception in fall or winter (compared to summer). In addition, infants with Ebstein anomaly were at a greater risk of preterm birth and being small for gestational age. These findings help to define subgroups of women at increased risk of having offspring affected by Ebstein anomaly. Furthermore, our findings add to the limited body of literature on this rare but serious malformation. © 2011 Wiley‐Liss, Inc.
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome
Authors: Mégarbané André , Chouery Eliane , Mignon‐Ravix Cécile , El Sabbagh Sandra , Corbani Sandra , Ghoch Joelle Abou , Jalkh Nadine , Mehawej Cybel , Lévy Nicolas , Villard Laurent
Published: April 2011

We report on two siblings with hypotonia, ambiguous genitalia, microcephaly, ptosis, microretrognathia, thin lips, seizures, absent ossification of pubic rami, and brain abnormalities at the MRI. The two siblings died at 5 and 8 months, respectively. Molecular analysis indicated that SOX9, ARX, and DHCR7 genes were normal. Comparative genomic hybridization (CGH)‐array analysis performed on the younger boy indicated two notable deletions, one on paternally inherited chromosome 4, and one on maternally inherited chromosome 5. The same deletions were found in a normal sister. Differential diagnoses and the possibility of a hitherto unreported syndrome are discussed. © 2011 Wiley‐Liss, Inc.
der(4)t(Y;4): Three‐generation transmission and sperm meiotic segregation analysis
Authors: Vozdova Miluse , Horinova Vera , Wernerova Vendula , Skalikova Romana , Rybar Roman , Prinosilova Petra , Oracova Eva , Rubes Jiri
Published: April 2011

We present a family where five members (three males and two females) are carriers of der(4)t(Y;4)(q11.23;p16.3). The adult carriers are phenotypicaly normal and fertile; the boy shows macrocephaly, psychomotor retardation, and atypical autism. The FISH on cultured lymphocytes confirmed that the redundant Yq heterochromatin was attached to the 4p‐subtelomeric region maintained on the der(4). Sperm FISH analysis performed in a normospermic der(4) carrier showed a significant distortion of the expected 1:1 ratio of the X‐ and Y‐bearing spermatozoa in favor of the X chromosome and significant lack of Y,der(4)spermatozoa. The overall lack of Y spermatozoa was not balanced even by a relative excess of Y,4 sperm. The analysis of X, Y, 7, 8, 18, and 21 sperm disomy and diploidy did not indicate any interchromosomal effect. The chromosome 4 disomy was significantly increased but still very low to be of considerable reproductive significance. The neurodevelomental phenotype of the boy was probably caused by a gene mutation. The coincidental occurrence of such chromosomal aberration and boy's phenotype might lead to misinterpretation of the causal relationship between these findings. It is necessary to consider the results of chromosomal analysis and clinical records of relatives for provide genetic counseling in such families. © 2011 Wiley‐Liss, Inc.
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction
Authors: Andrabi Sara , Bekheirnia Mir Reza , Robbins‐Furman Patricia , Lewis Richard Alan , Prior Thomas W. , Potocki Lorraine
Published: April 2011

Juvenile polyposis syndrome (JPS) is caused by heterozygous mutations in either SMAD4 or BMPR1A. Individuals with JPS due to mutations in SMAD4 are at greater risk to manifest signs of hereditary hemorrhagic telangiectasia (HHT). HHT is caused by either mutations in SMAD4 or other genes that modulate transforming growth factor‐beta (TGFβ) signaling. Additional genes in the TGFβ network include FBN1, TGFBR1, and TGFBR2, mutations of which cause either Marfan syndrome (MFS) or Loeys–Dietz syndrome (LDS), respectively. As SMAD4, FBN1, and TGFBR1/2 map to different regions of the genome, disorders associated with mutations in these genes are not expected to co‐segregate in a family. We report an individual whose family history was positive for aortopathy, mitral valve dysfunction, and JPS. Mutation analysis of SMAD4 implicates this gene for these phenotypes in this family. Although SMAD4 is among several genes in the TGFβ network, and although prior single case reports have described large vessel aneurysms in HHT, this is the first description of aortic and mitral disease presenting with JPS. This observation suggests that, in addition to HHT, individuals with SMAD4 mutations may be at risk for aortic dilation and mitral valve dysfunction. We emphasize the importance of comprehensive review of the medical history prior to molecular testing, especially in an asymptomatic patient. © 2011 Wiley‐Liss, Inc.
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews
Authors: Edvardson S. , Jalas C. , Shaag A. , Zenvirt S. , Landau C. , Lerer I. , Elpeleg O.
Published: April 2011

Autosomal recessive nonsyndromic sensorineural hearing loss (ARNSHL) in Ashkenazi Jews, is mainly caused by mutations in the GJB2 and GJB6 genes. Here we describe a novel homozygous mutation of the LOXHD1 gene resulting in a premature stop codon (R1572X) in nine patients of Ashkenazi Jewish origin who had severe‐profound congenital non‐progressive ARNSHL and benefited from cochlear implants. Upon screening for the mutation among 719 anonymous Ashkenazi‐Jews we detected four carriers, indicating a carrier rate of 1:180 Ashkenazi Jews. This is the second reported mutation in the LOXHD1 gene, and its homozygous presence in two of 39 Ashkenazi Jewish families with congenital ARNSHL suggest that it could account for some 5% of the familial cases in this community. © 2011 Wiley‐Liss, Inc.
Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome?
Authors: Shkalim Vered , Ben‐Sira Liat , Inbar Dov , Kaadan Walid , Basel‐Vanagaite Lina , Straussberg Rachel
Published: April 2011

Clubfoot is a common birth deformity, and agenesis of the corpus callosum is one of the most prevalent brain malformations. We describe three sibs of Arab origin, who were born with clubfeet, agenesis of corpus callosum, and minor anomalies. Two of them were born with microcephaly. This phenotype may represent a novel autosomal recessive genetic condition. © 2011 Wiley‐Liss, Inc.
Cu(II) bromide catalyzed oxidation of aldehydes and alcohols
Authors: Das Rima , Chakraborty Debashis
Published: April 2011

A variety of aromatic, aliphatic and conjugated aldehydes and alcohols were transformed to the corresponding carboxylic acids and ketones with a quantitative conversion in high yields with 70% t‐BuOOH solution in water in the presence of catalytic (5 mol%) amounts of CuBr2 under room temperature conditions. The conversion of 4‐methoxybenzaldehyde to 4‐methoxybenzoic acid is extremely facile in MeCN at ambient temperature in the presence of 5 mol% CuBr2 and 2 equiv. 70% t‐BuOOH (water) as the oxidant. Oxidation with t‐BuOOH (water) alone in MeCN was found to be negligible. The scope of our catalytic system is applicable for a wide range of aromatic, conjugated and aliphatic substrates. These aldehydes were converted to the corresponding carboxylic acids in good isolated yields in reasonable times. It is pertinent to mention here that mild halogenic oxidants like hypochlorites, chlorites and NBS are not suitable for substrates with electron‐rich aromatic rings, olefinic bonds and secondary hydroxyl groups. Substitutions at different positions on the phenyl ring do not hinder the reaction, although the reaction time is affected. Oxidation of α,β unsaturated derivatives resulted in the formation of the expected acid in good yield. In addition, the transformation of secondary alcohols to ketones is extremely facile. No recemization was observed for menthone. This method possesses a wide range of capabilities since it can be used with other functional groups which may not tolerate oxidative conditions, involves fairly simple method for work‐up, exhibits chemoselectivity and proceeds under ambient conditions. The resulting products are obtained in good yields within reasonable time. Copyright © 2011 John Wiley & Sons, Ltd.
The surface structure and chemical characters of activated carbon fibers modified by plasma
Authors: Zhou Jia‐Yong , Wang Zu‐Wu , Zuo Rong , Zhou Ye , Cao Xiao‐Man , Cheng Kang
Published: April 2011

Viscose‐based activated carbon fibers (VACFs) were treated by a direct‐current (DC) discharge plasma at different conditions. The surface functional groups of VACFs were modified to improve the adsorption and catalysis capacity for SO2 and NOx. The surface properties of the untreated and treated VACFs which were modified in different feed gases (air, O2, N2 and NH3) were performed by scanning electron microscopy, BET, X‐ray photoelectron spectroscopy (XPS) and Fourier transform infrared attenuated total reflection spectroscopy (FTIR‐ATR). The results show that after being treated with plasma, more particles appeared on the external surface of the VACFs and the surface became rougher, the average pore size decreased but the pore volume and the surface area decreased first and then increased. XPS revealed that DC discharge plasma can remarkably change the distribution of functional groups on the surface of VACFs. FTIR‐ATR also indicated that more nitrogen atoms were introduced to the VACFs surface when the feed gas contained nitrogen atoms and N and O atoms were introduced to the surface of VACFs at the same time when the feed gas was air, but it did not happen in the feed gas of N2, or O2, or NH3. Discharge voltage and treatment time were important factors and for our experiment in the feed gas of nitrogen, the optimum modification conditions were 8 kV and 5 min, respectively. © 2011 Curtin University of Technology and John Wiley & Sons, Ltd.
Fuzzy automated targeting for trade‐off analysis in batch water networks
Authors: Nun Sophanna , Foo Dominic Chwan Yee , Tan Raymond R. , Razon Luis F. , Egashira Ryuichi
Published: April 2011

Automated targeting technique has recently been developed for various resource conservation network problems in continuous and batch processes. The technique is built on the targeting concept of insight‐based pinch analysis technique, and implemented on mathematical optimization framework. For batch water networks, the water sinks and sources are located within the respective time intervals before flow targeting is carried out. In this work, automated targeting is further extended by including fuzzy constraints to analyze the trade‐off between water conservation potential and the requirement for storage and/or regeneration systems. Case study from literature is used to demonstrate the newly developed fuzzy automated targeting technique. Copyright © 2011 Curtin University of Technology and John Wiley & Sons, Ltd.
The time evolution analysis of methane reburn process at high temperature
Authors: Wang Enlu , Xu Xuchang , Zhang Mingchuan
Published: April 2011

The time evolution of the methane reburn process at high temperature was investigated by the simulation method. The simulated results show that the time evolutions of each component are different with the stoichiometric ratio (SR) of the reburn zone and the reaction time. In the simulation conditions, CH4, C2H2, and H appear as SR is from 0.66 to 0.96; CH3 appears as SR is from 0.66 to 0.76; HCN, NH3, and HNCO appear as SR is from 0.66 to 0.86; OH appears as SR is from 0.82 to 0.96. In the case with SR of 0.76, C2H2 and CH3 only appear in the initial 0.2 s, NH3 and HNCO appear in the whole 2.0 s; In the case with SR of 0.82, C2H2 also appears in the initial 0.2 s, NH3 and HNCO only appear in initial 0.5 s, CH3 does not appear in the whole reaction time of 2.0 s. The reaction between CH3 and NO mainly occurs in the strong reducing atmosphere, and contributes significantly to remove NO to HCN, NH3, and HNCO. The interactions of NO with H and OH radicals mainly occur in the weak reducing atmosphere, and contribute to remove a small part of NO to N2. Through comparing the time evolutions of total fixed nitrogen (TFN) with different SR, it is suggested that the optimum SR for reducing TFN in the methane reburn process is about 0.82. © 2011 Curtin University of Technology and John Wiley & Sons, Ltd.
Effect of microwave irradiation on chemical profile of extracts during the extraction of organic compounds from Astragalus slices
Authors: Yang Junhong , Di Qianqian , Zhao Jun
Published: April 2011

The objective of this paper was to study the relationship between the chemical profile of extracts and the extraction behavior of plant porous materials using Astragalus water extraction as an example. The results will assist in the determination of optimal processing conditions and maintaining or improving the quality of natural products. Conventional reflux extraction (RE) and microwave‐assisted extraction (MAE) were considered and compared. The molecular cutoff of ultrafiltration membranes was used to analyze the molecular weight distribution of extracts. Result shows that the yield of extracts by MAE (10 min) is significantly higher than that by RE (120 min), especially for those extracts with relative small molecular weight. Conventional hot air drying and microwave drying were also compared for further discussion on the effect of microwave irradiation on extracts. Atomic force micrograph (AFM) shows that the size of extracts (as particle height) are approximately 3.850–4.364, 6–10, and 100–300 nm for MAE‐hot air drying, RE‐microwave drying, and RE‐hot air drying, respectively. Therefore, the results presented confirm that microwave irradiation can be used to prepare samples with uniform small size. This provides a better understanding of mass transfer behavior inside matrix during the extraction of plant materials. © 2011 Curtin University of Technology and John Wiley & Sons, Ltd.
A simulation‐based approach to stochastic dynamic programming
Authors: Polson Nicholas G. , Sorensen Morten
Published: April 2011

In this paper we develop a simulation‐based approach to stochastic dynamic programming. To solve the Bellman equation we construct Monte Carlo estimates of Q‐values. Our method is scalable to high dimensions and works in both continuous and discrete state and decision spaces while avoiding discretization errors that plague traditional methods. We provide a geometric convergence rate. We illustrate our methodology with a dynamic stochastic investment problem. Copyright © 2011 John Wiley & Sons, Ltd.
Expression, purification, and improved antigenic specificity of a truncated recombinant bp26 protein of Brucella melitensis M5‐90: a potential antigen for differential serodiagnosis of brucellosis in sheep and goats
Authors: Wen‐xing Liu , Sen Hu , Zu‐jian Qiao , Wei‐ye Chen , Lin‐tao Liu , Fang‐kun Wang , Rong‐hong Hua , ZHi‐gao Bu , Xiang‐rui Li
Published: April 2011

Antibodies produced in animals vaccinated using live attenuated vaccines against Brucella spp. are indistinguishable using current conventional serological tests from those produced in infected animals. One potential approach is to develop marker vaccines in which specific genes have been deleted from parental vaccine strains that show good immunogenicity and vaccine efficacy. Corresponding methods of detection for antibodies raised by the marker vaccine should also be developed. A specific fragment of the bp26 gene of Brucella melitensis M5–90 was cloned into vector pQE32 to construct the recombinant plasmid (pQE32‐rΔbp26). It was used to transform Escherichia coli M15 (pREP4) host cells, which expressed the rΔbp26 protein. Subsequently, the recombinant protein was purified by immobilized metal affinity chromatography and size‐exclusion chromatography. The results of sodium dodecyl sulfate‐polyacrylamide gel electrophoresis showed that the purified rΔbp26 protein was represented by only one band, with a molecular weight of 14 kDa, and it showed good antigenic specificity on western blot and enzyme‐linked immunosorbent assay (ELISA). The purified rΔbp26 protein was intended to be used as an antigen to develop a novel ELISA to differentiate animals vaccinated with bp26 mutants of Brucella spp. from those infected naturally and those vaccinated with the parental vaccine strains.