bluuebunny/crossref_metadata_2025 huggingface dataset:
Biofiltration for the Treatment of Complex Mixtures of VOC – Influence of the Packing Material
Authors: Aizpuru A. , Khammar N. , Malhautier L. , Fanlo J. L.
Published: August 2003

Currently air biofiltration is largely considered for the removal of Volatile Organic Compounds (VOC) from polluted airstreams. In order to select a suitable packing material for the treatment of VOC polluted air and better understand the influence of the packing material properties upon the removal efficiency, a mixture of eleven VOC was treated in two down‐flow biofilter units packed with either peat or Granular Activated Carbon (GAC) and functioned under similar operating conditions for 92 days. Using the peat biofilter under steady‐state conditions achieved a removal efficiency of 90% greater than the 80% achieved using the GAC filter. Moreover, in both cases, a stratification of the abatement along the column was observed but it differed according to the type of the packing material used. For the peat biofilter, elimination of oxygenated compounds occurred in the first 50 cm of the column, whereas aromatic and halogenated compounds were treated in the segments closer to the outlet. In contrast, with GAC, the removal of oxygenated and aromatic compounds took place along the height of the column. For the removal of microorganisms fixed on peat and activated carbon particles, the crushing with an ultra‐turrax was the most efficient dispersing method, compared to agitation with a vortex and ultrasound. The counting of microorganisms using three culture media [Luria Bertoni (LB); Plate Count Agar (PCA); Tryptic Soy Agar, tenfold diluted (TSA 1/10)] demonstrated that the TSA 1/10 was likely most suitable for the recovery of the peat biofilter microflora (TSA 1/10: 5.6 × 109 CFU/g of dry peat, PCA: 1.5 × 109 CFU/g of dry peat, LB: 0.3 × 109 CFU/g of dry peat) probably due to the dominance of oligotrophic bacteria, whereas for the activated carbon biofilter there was no significant difference (PCA: 4.4 × 109; LB: 4.2 × 109; TSA 1/10: 4.5 × 109 CFU/g of dry activated carbon) between these media suggesting that oligotrophic and zymogeneous bacteria are likely in the same proportion.

The results illustrated that even the removal efficiency is associated with the pollutant properties; it was assumed that the sorptive properties of GAC could modify the VOC degradation mechanisms and then entail a real reduction of the removal efficiency.
A Soluble Flavoprotein Contributes to Chromate Reduction and Tolerance by Pseudomonas putida
Authors: Gonzalez C. F. , Ackerley D. F. , Park C. H. , Matin A.
Published: August 2003

As a consequence of its toxicity, the accumulation of chromate [Cr(VI)] in drinking water poses a serious risk to human health. Conventional approaches to groundwater remediation and the regeneration of potable water supplies are expensive and have, to date, been limited in their effect. From a biological perspective, chromium(III) compounds, the end products of bacterial chromate reduction, are less dangerous; not only are they less toxic than chromate, they also have very low solubility, restricting their spread and their biological availability. Thus, reduction of chromate by bacteria is an attractive strategy for its remediation. Through biomolecular engineering, it should be possible to improve the chromate‐reducing activities of wild type bacterial enzymes, and to produce bacteria capable of expressing such activities at a high level under nutrient‐poor and stressful field conditions. With this goal in mind, we have identified, purified and characterised a chromate‐reducing flavoenzyme from Pseudomonas putida. The results presented here indicate that this enzyme is an efficient reducer of Cr(VI) in vitro, and also plays an important role in chromate detoxification in vivo. Our ongoing studies have also identified areas where improvement in these enzymes would enhance chromate bioremediation.
Assimilation of Nitrogen Dioxide in Selected Plant Taxa
Authors: Takahashi M. , Kondo K. , Morikawa H.
Published: August 2003

The production of a novel “nitrogen‐dioxide‐philic plant” that can grow with NO2 as the sole nitrogen source was investigated as a possible solution to pollution. 217 plant taxa were screened for the assimilation of NO2, among them 50 wild herbaceous plants collected from roadsides, 60 cultivated herbaceous plants and 107 cultivated woody plants. It was discovered that the NO2‐derived reduced nitrogen [μg N/mg dry weight] differed by a factor of 657 between the highest (Eucalyptus viminalis, 6.57) and lowest (Tillandsia ionantha and T. caputmedusae, 0.01) level in the 217 taxa. The capability of plants to assimilate NO2 was also found to change in a family‐dependent manner. Compositae, Myrtaceae, Salicaceae and Solanaceae had taxa with high NO2 assimilation capability, while none of the Gramineae, Theaceae and Rosaceae plants examined showed high NO2 assimilation capability. The 217 taxa included two species of the Solanaceae family (tobacco and petunia), both of which showed a high NO2 assimilation and their reduced nitrogen derived from NO2 was the third and twenty‐sixth highest. This suggested that the Solanaceae family includes plants of high NO2 assimilation.

Therefore, in this study eight taxa of the Solanaceae family and four taxa of other families were investigated for NO2 assimilation in the same manner as reported previously by the fumigation of plants with 15N‐labelled NO2 followed by the mass spectroscopic analysis based upon the reduced nitrogen derived from NO2. The eight taxa Solanaceae included tobacco (Nicotiana tabacum) and petunia (Petunia X hybrida), ground cherry (Physalis alkekengi var. franchetii), tomato (Lycopersicon esculentum), datura (Datura innoxia), potato vine (Solanum jasminoides), red pepper (Capsicum annuum) and green pepper (Capsicum annuum var. grossum SENDTN.). The four taxa included two ivy cultivars (Hedera helix “Pittsburgh” and Hedera helix “Wonder”), an evergreen creeper (Ficus thunbergii) and kenaf (Hibiscus cannabinus).

Among the twelve taxa, kenaf, tobacco and ground cherry showed the highest, second and third highest values, respectively, of reduced nitrogen derived from NO2 in plants, which reflects the capability to assimilate NO2‐nitrogen. The quantitative significance of these findings is discussed in relation to the reduction of nitrogenous pollution by the atmospheric NO2 pollution.
Conversion of the Nitrate Nitrogen and Nitrogen Dioxide to Nitrous Oxides in Plants
Authors: Hakata M. , Takahashi M. , Zumft W. , Sakamoto A. , Morikawa H.
Published: August 2003

Tobacco and wheat are known to emit nitrous oxide (N2O). Provided that N2O is a greenhouse gas about 300 times worse than carbon dioxide in its potential for global warming, it is an intriguing and important subject, whether this activity is commonly present in other plants. In this study, 17 plant taxa that had been cultured aseptically were fed with15N‐labelled nitrate for one week (feeding period). The plant taxa were then transferred to a medium with non‐labelled nitrate in gas‐sealed pots and cultured for another week (emission period). The amount of labelled N2O emitted from the plants during the emission period was determined. This value reflects only a part of the capability of plants to convert nitrate to N2O, because the amount of N2O determined here does not correspond to the total N2O emission from plants, but to only an15N‐labelled N2O fraction emitted during the emission period from nitrate taken up into the plants during the feeding period. It was discovered that all of the 17 plant taxa analysed, except forEucalyptus viminalis,showed emission of15N2O. The emission ranged from 0.45 ± 0.20 ng N2O/g fresh weight (kenaf) to − 0.012 ± 0.12 ng N2O/g fresh weight (Eucalyptus viminalis). This activity of converting nitrate to N2O is obviously common in plants with some exceptions. There was more than a 58‐fold variation between the highest (Hibiscus cannabinus) and the second lowest (Nicotiana tabacum) capability to convert nitrate to N2O among the 17 plant taxa. The present result indicates that the potential of plants to convert nitrate to N2O highly varies among the plant species as in the case of the assimilation of nitrogen dioxide (N2O) where more than a 600‐fold variation was observed among 217 plant taxa. A negative correlation was obtained for N2O emission and NO2assimilation (r= 0.72).

This is the first report where there was a competitive interaction between the assimilation and dissimilation activities in plants. It was also found that wild type and transgenic tobacco are able to convert NO2to N2O when they were fumigated with15N‐labelled NO2. However since the N2O emission values observed in this study were approximately three orders of magnitude smaller than those observed with wheat leaves, the evaluation of the environmental significance of the N2O emission by plants must await quantitative analysis using the present system to figure out the full N2O emission capability of plants.
Productivity, Protein Content and Nutrient Removal from Anaerobic Effluents of Coffee Wastewater in Salvinia minima Ponds, under Subtropical Conditions
Authors: Olguín E. J. , Rodríguez D. , Sánchez G. , Hernández E. , Ramírez M. E.
Published: August 2003

Salvinia minima is an aquatic fern which presents several advantages for the phytoremediation of wastewater. However, there is no information available for the operation of Salvinia‐based systems (SBS) for nutrient removal from organic matter enriched wastewater. The objective of this work was to establish the optimum range of some key parameters for the operation of Salvinia minima ponds treating anaerobic effluents of coffee wastewater (AECWW). Batch cultures were performed outdoors, under subtropical conditions (Xalapa, Veracruz, Mexico). At the first stage, various pH levels were tested. After choosing the optimum pH, two pond depths were evaluated (0.10 m and 0.27 m). It was found that the productivity in AECWW was strongly affected by the pH, as it decreased with the increase in the pH. In fact, growth was completely inhibited at pH 8.0. In contrast, productivity at a pH of 6.0 and a pond depth of 0.27 m during the summer was equivalent to 27.92 ton/ha × year. The percentage of TKN removal increased with the pH value: 51 ± 2.28% at pH 5.0; 78 ± 1.47% at pH 6.0 and. 97 ± 0.80% at pH 8.0. A similar situation was found for the case of NH4‐N removal: (55 ± 0.44%, 80 ± 1.1%, 99 ± 0.02%). The depth of the culture had influence on the productivity, protein content and nutrient removal. It was concluded that Salvinia minima is an adequate choice for the treatment and recovery of nutrients from AECWW. The pH for optimal operation of this type of pond was 6.0. The depth of the water column should be adjusted to 0.10 m for attaining a maximum relative removal efficiency (in terms of g NH4‐nitrogen/l × d), although the productivity would not be at its maximum under these conditions. On the contrary, depth should be adjusted to 0.27 m for reaching the maximum absolute removal efficiency (considering the total volume of the reactor) and the maximum productivity. During the late autumn and winter period, the AECWW should be diluted 1:2 in order to enhance ammonia nitrogen removal.
A Differential Availability Enhancement Factor for the Evaluation of Pollutant Availability in Soil Treatments
Authors: Poggi‐Varaldo H.M. , Rinderknecht‐Seijas N.
Published: August 2003

An availability enhancement factor (AEF) is proposed and its usefulness for determining the effectiveness of desorption treatments of pollutants from soils is discussed. In addition, its relationship to a new Coefficient of Hysteresis (CH) is derived. The AEF was defined as the ratio of the slope of the desorption curve of a given pollutant with a surfactant or solvent treatment to the slope of the corresponding desorption curve of a reference treatment. This factor is shown to be useful for the quantification of the effect of a given soil treatment (with surfactants, biosurfactants, solvents) on the eventual improvement of the pollutant desorption and availability for biodegradation or further physicochemical removal. Several easy algebraic equations are developed for finding the values of the AEF in the most common desorption cases (linear, Freundlich, and Langmuir isotherms). Data from the refereed literature were used to show how the AEF concept works when a biosurfactant is applied to increase the desorption of polynuclear aromatic hydrocarbons from soils. The AEF concept allows for more objective decisions regarding the selection of desorption treatments of pollutants from soils and sediments to be made.
Biotechnological Approaches for Enhancing Phytoremediation of Heavy Metals and Metalloids
Authors: Terry N. , Sambukumar S. V. , LeDuc D. L.
Published: August 2003

Phytoremediation, the use of plants and their associated microbes to accumulate, detoxify and/or stabilise contaminants, is an environment‐friendly and sustainable means of remediating contaminated soil and water. Phytoremediation has been an important aspect of constructed wetlands, which have been used successfully to detoxify large volumes of wastewater with dilute concentrations of contaminants. The usefulness of phytoremediation appears to extend to a wide variety of contaminants, and a recent study demonstrated its possible application for selenocyanate. Genetic engineering approaches are currently being used to optimise the metabolic and physiological processes that enable plants to phytoremediate sites contaminated with heavy metals and metalloids. Over‐expressing enzymes catalysing rate‐limiting steps in the sulphate assimilation and phytochelatin synthesis pathways has been shown to confer increased tolerance to and the ability to accumulate higher concentrations of selenium and cadmium, respectively. Recent research in our laboratory is aimed at determining the regulatory genes involved in heavy metal accumulation and detoxification in hyperaccumulating plants that could then be transferred to fast‐growing, high biomass plant species for phytoremediation. Microbes isolated from highly contaminated environments represent another potentially huge reservoir of new genes and unique metabolic capabilities that could be transferred to plants to enhance their phytoremediation potential.
Phytoremediation of Solid Oil Shale Waste from the Chemical Industry
Authors: Truu J. , Kärme L. , Talpsep E. , Heinaru E. , Vedler E. , Heinaru A.
Published: August 2003

The processed oil shale (semi‐coke) contains several organic and inorganic compounds (oil fractions, sulphides, phenolic compounds, polycyclic aromatic hydrocarbons) and is highly toxic. The solid waste deposit is a source of toxic phenolic leachate, which is discharged into nearby bodies of water without any treatment. Field experiments were carried out in order to test the effect of phytoremediation to enhance in‐situ microbial biodegradation of pollutants in semi‐coke. Four pilot test plots (50 m2) were established at a semi‐coke deposit in July 2001. The growth rate of plants was approximately twice higher in the case of soil amendment. The phytoremediation increased the number of biodegradative bacteria and diversity of microbial community in semi‐coke. The presence and diversity of multi‐component phenol hydroxylase (mPH) genes in the environment were assessed using the microbial DNA directly extracted from semi‐coke. The changes in the genotypes of mPHs indicated shifts in the microbial community structure towards the more efficient degradation of pollutants due to plant treatment. Within a four‐month period starting from the establishment of test plots in July, the concentration of phenolic compounds decreased three times in average and the concentration of oil products up to ten times, compared to the control plot.
Tailored Synthesis of Poly([R]‐3‐hydroxybutyrate‐co‐3‐hydroxyvalerate) (PHB/HV) inRalstonia eutrophaDSM 428
Authors: Zinn M. , Weilenmann H.‐U. , Hany R. , Schmid M. , Egli Th.
Published: August 2003

Ralstonia eutrophawas grown in a chemostat at a dilution rate ofD= 0.1 ± 0.01 h−1under the conditions of simultaneous limitation by carbon (butyric and/or valeric acid) and nitrogen (ammonium). In order to achieve a physiological state with a high cellular polyhydroxyalkanoate (PHA) content, the ratio of total carbon to nitrogen of the feed medium was kept constant at 17 mol C/molN and only the ratio of butyric to valeric acid was varied in the carbon feed. When only butyric acid was fed, poly([R]‐3‐hydroxybutyrate) (PHB) was isolated. For substrate mixtures consisting of butyric and valeric acid, and valeric acid alone, theco‐polymer poly([R]‐3‐hydroxybutyrate‐co‐3‐hydroxyvalerate) (PHB/HV) was incorporated with a maximum content of (R)‐3‐hydroxyvalerate of 62 mol%. The melting temperature of PHA decreased from 178 °C for PHB to about 80 °C for PHA with the highest HV content. The molecular weight (Mw) of the polymer was between 0.9 and 1.2 × 106with a polydispersity of 3 ± 0.3. The polymer composition in the cells was a non‐linear function of the substrate mixture. It was concluded that dual (C, N) limited growth conditions in chemostat cultures could be used to tailor the composition of PHB/HV in an accurate way, which is not possible when using N limited batch cultures.
Cardiovascular abnormalities associated with the Stuve–Wiedemann syndrome
Authors: Raas‐Rothschild Annick , Ergaz‐Schaltiel Zivanit , Bar‐Ziv Jakob , Rein Azaria J.J.T.
Published: August 2003

The Stuve–Wiedemann syndrome (SWS) is a congenital bone dysplasia characterized by camptodactyly with ulnar deviation and congenital bowing of the long bones. Affected patients present with respiratory difficulties in the neonatal period or later and recurrent episodes of hyperthermia. The typical radiological findings are bowing of the long bones of the lower limbs, wide metaphyses with decreased density, and abnormal trabecular pattern. Generally, respiratory insufficiency and hyperthermia are reported to be the cause of death. We report on two sibs with SWS, who died from severe pulmonary hypertension with pulmonary artery wall abnormality. We suggest a common pathophysiological process, which could explain the cardiovascular findings that we observed immediately after birth in the two affected sibs. We hypothesize that the severe pulmonary hypertension due to the arterial wall abnormality could explain the neonatal death of these two children. © 2003 Wiley‐Liss, Inc.
Prostate cancer is part of the hereditary non‐polyposis colorectal cancer (HNPCC) tumor spectrum
Authors: Soravia Claudio , van der Klift Heleen , Bründler Marie‐Anne , Blouin Jean‐Louis , Wijnen Juul , Hutter Pierre , Fodde Riccardo , Delozier‐Blanchet Célia
Published: August 2003

The recognized urologic tumor spectrum in hereditary non‐polyposis colon cancer includes ureteral and renal pelvis malignancies. Here, we report a family in which the proband, who had three metachronous adenocarcinomas of the colon and rectum (at ages 54, 57, and 60), presented with an adenocarcinoma of the prostate at age 61. Immunohistochemical (IHC) staining of colonic, rectal, and prostatic tumor tissues demonstrated lack of expression of both MSH2 and MSH6. Accordingly, microsatellite instability (MSI) was found in the rectal, colonic, and prostatic tumors. The kindred complies with the Amsterdam criteria for HNPCC, as five members over three generations had colorectal cancer. Molecular investigations were initiated when the proband's son presented with an adenocarcinoma of the colon at age 35. Southern blotting analysis of genomic DNA led to identification of a novel genomic deletion encompassing exon 5 of the MSH2 gene. Although prostate cancer has occasionally been described in HNPCC families, to the best of our knowledge, this is the first report where the MSI and IHC analysis of the prostatic adenomcarcinoma clearly link its aetiology to the germline mismatch repair mutation. Hence, prostate cancer should be included in the HNPCC tumor spectrum. © 2003 Wiley‐Liss, Inc.
Do multivitamin or folic acid supplements reduce the risk for congenital heart defects? Evidence and gaps
Authors: Botto Lorenzo D. , Mulinare Joseph , Erickson J. David
Published: August 2003

Congenital heart defects are among the most common congenital anomalies and are the leading cause of infant death due to congenital anomalies. Except for a few known measures, effective primary prevention is not yet feasible for most heart anomalies. Recent reports have associated the use of multivitamin supplements around the time of conception and during early pregnancy with a reduced risk for heart defects in the offspring. We review and discuss the evidence and suggest a framework for further investigation in this area. Published 2003 Wiley‐Liss, Inc.
Under‐ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomes
Authors: Kovaleva Natalia V. , Shaffer Lisa G.
Published: August 2003

Acrocentric rearrangements are the most common chromosome abnormalities in humans. Carriers of homologous acrocentric rearrangements (Robertsonian translocations (ROBs) between homologous chromosomes and isochromosomes) are at very high risk of having multiple spontaneous abortions and chromosomally abnormal offspring. Parents of fetuses and children with unbalanced homologous acrocentric rearrangements are rarely found to be carriers or mosaic for the same rearrangement. Even though recurrent miscarriages may indicate a carrier parent, carriers are rarely identified. Comparison of non‐chromosome 21 homologous rearrangements to rea(21q21q) culled from the literature revealed a 7‐fold decrease in the number of mosaic cases among the parents of non‐rea(21q21q) offspring. This under‐ascertainment in parents may be due to low level mosaicism confined to the gonads, a true biological difference between chromosome 21 rearrangements and other homologous acrocentric rearrangements, or simply to the lack of rigorous clinical investigation of the parental karyotypes to uncover mosaicism. We recommend that polymorphic marker analysis be applied to apparently de novo acrocentric rearrangements to distinguish those resulting from biparental postzygotic formation from those resulting from meiotic formation; the latter of which may indicate a potential carrier parent. Parental chromosomal constitutions could then be screened in a large number of cells and in more than one tissue type to identify mosaicism. Identification of mosaicism allows for accurate genetic counseling and discussion of reproductive options. However, given that mosaicism may be restricted to the gonads, prenatal testing is likely to be desired by the family whether or not mosaicism is found. © 2003 Wiley‐Liss, Inc.
Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring
Authors: Galjaard Robert‐Jan H. , van der Linde Herma C. , Eussen Bert H. J. , de Vries Bert B. A. , Wouters Cokkie H. , Oostra Ben A. , Graaff Esther de , Heutink Peter
Published: August 2003

Postaxial polydactyly (PAP) is characterized by the presence of one or more extra ulnar or fibular digits or parts of it. PAP type B presents frequently as a skin tag on the hand(s). It is usually an isolated malformation, but in 6.6% it is associated with other congenital abnormalities, mostly well recognizable syndromes. We present a male with PAP‐B only and his daughter with an extended phenotype including mental retardation and minor dysmorphisms. Both share a cytogenetically balanced t(4;7)(p15.2;q35), present in mosaicism in the father. We found microdeletions associated with the breakpoints. The chromosomal regions described here have not been previously associated with the PAP‐B phenotype. We present the first case of an individual with isolated PAP‐B and a submicroscopic chromosome abnormality. © 2003 Wiley‐Liss, Inc.
Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)
Authors: Bergmann Carsten , Zerres Klaus , Peschgens Thomas , Senderek Jan , Hörnchen Helmut , Rudnik‐Schöneborn Sabine
Published: August 2003

We describe a male infant born to consanguineous healthy parents with multiple congenital anomalies of the skeleton and internal organs. His phenotype displays an overlap between VACTERL and hemifacial microsomia (oculo‐auriculo‐vertebral spectrum/OAV). In addition, striking asymmetry of the malformations further supports the classification as part of the “axial mesodermal dysplasia complex” (AMDC) which is supposed to arise from disturbed mesodermal cell migration during early blastogenesis. The present case was instructive to review the continuous spectrum of AMDC related anomalies. © 2003 Wiley‐Liss, Inc.
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene
Authors: De Meirleir Linda , Seneca Sara , Damis Eliane , Sepulchre Brigitte , Hoorens Anne , Gerlo Erik , García Silva M. Teres , Hernandez Elena Martín , Lissens Willy , Van Coster Rudy
Published: August 2003

We investigated two siblings of a Spanish family presenting with congenital lactic acidosis. They had severe failure to thrive, liver dysfunction, and renal tubulopathy. An isolated biochemical complex III deficiency was detected in liver. A search for mutations in the human bc1 synthesis like (BCS1L) gene was undertaken. Direct sequencing revealed a missense mutation R45C and a nonsense mutation R56X, both located in exon 1 of BCS1L. The missense mutation in combination with a loss of function of the second allele is responsible for the isolated complex III deficiency in this family. © 2003 Wiley‐Liss, Inc.
Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: Intra‐familial association study in an eight‐generation hyperlipidemic kindred
Authors: Takada Daisuke , Ezura Yoichi , Ono Shuji , Iino Yasuhiko , Katayama Yasuo , Xin Yuanpei , Wu Lily L. , Larringa‐Shum Stacey , Stephenson Susan H. , Hunt Steven C. , Hopkins Paul N. , Emi Mitsuru
Published: August 2003

Defect of growth hormone receptor (GHR) is classically known to cause Laron syndrome, characterized by short stature, specific facial appearance, elevated serum growth hormone levels, and decreased insulin‐like growth factor I levels. In addition, an increased cardiovascular risk due to elevated plasma total and LDL cholesterol levels marks another feature of the disease. Growth hormone (GH) plays an important role in the regulation of lipoprotein metabolism. GH status was found to be an independent determinant of plasma total cholesterol and triglyceride levels in humans. We studied a total of 207 members of eight‐generation extended family of familial hypercholesterolemia (FH) in which affected members presented with various lipoprotein phenotypes. Intra‐familial correlation analysis of a modifier effect of a Leu526Ile substitution in GHR gene was carried out among 95 carriers for LDL receptor gene (LDLR) mutation and 112 non‐carriers. When plasma high‐density lipoprotein cholesterol (HDL‐c) levels in the LDLR‐mutation carriers were compared, a significant lowering effect of HDL‐c was observed with the Leu allele; the values were lowest among Leu/Leu homozygotes (mean ± SD = 37 ± 2 mg/dl), highest in Ile/Ile homozygotes (50 ± 4 mg/dl), and intermediate among Leu/Ile heterozygotes (41 ± 2 mg/dl) (P = 0.0021). The results indicate a significant modification of the phenotype of FH with the defective LDLR allele, by GHR Leu variation in the kindred studied. © 2003 Wiley‐Liss, Inc.
Talo‐patello‐scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: A new syndrome?
Authors: Singh Jasvinder A. , Williams Calvin B. , McAlister William H.
Published: August 2003

Osteolysis syndromes are characterized by resorption of affected bones with associated swelling and pain. Various forms of multicentric osteolysis syndromes including autosomal dominant and recessive carpal‐tarsal osteolysis, Torg, François, Whyte‐Hemingway, Hajdu‐Cheney, Winchester, and other forms have been described. Most present in pre‐school years with extensive involvement and destruction of multiple bones. We present a sister‐pair, both of whom presented in early teenage, i.e., 13 and 15.5 years, respectively, with bilateral ankle, knee, and later, wrist pain. Radiological examination revealed bilateral osteolysis of tali, scaphoids, and patellae, and short fourth metacarpals in both sisters. Further investigation revealed absence of renal involvement, a normal excretion of amino acids, mucopolysaccharides and oligosaccharides, and presence of chronic synovitis in both sisters. Both parents and a younger brother were without radiographic or clinical evidence of the disease and there was no history of consanguinity. Thus, our sister‐pair presented with the same carpal and tarsal bone involvement at a much later age, with evidence of chronic synovitis, along with short fourth metacarpals (brachydactyly type E changes) and without renal disease, suggesting a new syndrome with probable autosomal recessive inheritance. © 2003 Wiley‐Liss, Inc.
Segmental neurofibromatosis in childhood
Authors: Listernick Robert , Mancini Anthony J. , Charrow Joel
Published: August 2003

Segmental neurofibromatosis refers to individuals who have manifestations of neurofibromatosis type 1 (NF‐1) limited to one area of the body. It results from a post‐conceptional mutation in the NF‐1 gene leading to somatic mosaicism. Although it is generally considered a rare condition, this report of 39 children with segmental NF‐1 demonstrates that it is commonly seen in a pediatric NF‐1 referral center. The mean age at diagnosis was 7.8 years (range: 2–25 years). Twenty‐nine patients had only pigmentary manifestations of segmental NF‐1, including seven who had only café‐au‐lait macules and 22 who had café‐au‐lait macules and freckling. Two patients had isolated plexiform neurofibromas; a third patient had a plexiform neurofibroma of the eyelid in addition to ipsilateral dysplasia of the sphenoid wing and Lisch nodules. A 12‐year‐old girl had an isolated tibial pseudarthrosis. An 8‐year‐old boy had an isolated optic pathway tumor, which behaved both biologically and radiographically as an NF1‐associated tumor. While most children with segmental NF‐1 have only localized pigmentary changes, some children will have isolated plexiform neurofibromas, pseudarthroses, or optic pathway tumors. Accurate diagnosis of segmental NF‐1 is crucial for both management and genetic counseling. © 2003 Wiley‐Liss, Inc.
Molecular characterization of an inherited ring (19) demonstrating ring opening
Authors: Speevak Marsha D. , Smart Carolin , Unwin Lianne , Bell Morag , Farrell Sandra A.
Published: August 2003

Ring chromosomes arise following breakage in both chromosome arms and rejoining of the centric segment at the broken ends or by end‐to‐end fusion of the telomeres. The phenotype of ring carriers is unpredictable, and developmental abnormalities may occur even when the ring appears to be structurally balanced. This is believed to be due to mitotic instability from abnormal segregation and sister chromatid exchange in somatic cells. Although ring chromosomes usually arise as de novo events, transmittal from mosaic carriers to offspring sometimes occurs. In such cases, offspring with ring mosaicism in combination with a normal cell line remain unexplained. In this report, we used detailed molecular and cytogenetic analyses of a prenatally detected, inherited ring (19) to observe the behavior of the ring chromosome in culture, and to investigate the mechanism of inherited ring chromosome mosaicism. © 2003 Wiley‐Liss, Inc.
ABase—A tool for the rapid assessment of anthropometric measurements on handheld computers
Authors: Zankl Andreas , Molinari Luciano
Published: August 2003

Anthropometry is widely recognized as an important method in the evaluation of dysmorphic children. Nevertheless, it has never gained widespread clinical use. We believe that this has mainly practical reasons: appropriate growth charts are not readily available at the bedside or in clinic and taking multiple measurements and plotting them into corresponding growth charts is a time‐consuming task. Here we describe a computer program that overcomes both problems: ABase compares entered anthropometric measurements to a database of age‐ and sex‐matched reference values, calculates the centile rank and displays the result either as text or as a digitized growth chart. The program runs on small handheld computers that can easily be carried around in a shirt pocket. © 2003 Wiley‐Liss, Inc.
MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia
Authors: Nguyen Karine , Sigaudy Sabine , Philip Nicole
Published: August 2003

Recent reports have emphasized the role of cholesterol in vertebrate embryonic development. The RSH or so‐called Smith–Lemli–Opitz syndrome (SLOS) was the first multiple congenital anomalies/mental retardation syndrome related to a cholesterol synthesis disturbance. Familial hypobetalipoproteinemia is a well‐known dominantly inherited entity in which affected individuals usually are free of symptoms. We report on the unusual association of a malformation syndrome with mental retardation resembling SLOS and profound hypocholesterolemia related to familial hypobetalipoproteinemia. We discuss the possible causal relationship between the two conditions and the current understanding of the role of cholesterol in normal embryogenesis. © 2003 Wiley‐Liss, Inc.
Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature
Authors: Tönnies Holger , Neumann Luitgard M. , Grüneberg Berthild , Neitzel Heidemarie
Published: August 2003

We report on a 4‐year‐old boy with developmental delay and microcephaly with an additional small marker chromosome derived from chromosome 1 and detected in 14% of T‐lymphocytes by conventional cytogenetics and in 9% of buccal smear cells by interphase FISH. Using molecular cytogenetic techniques, the marker chromosome was characterized as an extra ring chromosome consisting of euchromatic material from the proximal short arm of chromosome 1. We compare the cytogenetic data and the phenotype of our patient to those previously described cases with marker chromosome 1 mosaicism. We conclude that in addition to the straightforward molecular cytogenetic characterization of the euchromatic content of the ring chromosome, the investigation of a second cell system gives additional information about the tissue specific distribution of the supernumerary marker chromosome (SMC) and provides more reliable data for further karyotype/phenotype correlations and the prediction of the phenotypic outcome in prenatal cases. © 2003 Wiley‐Liss, Inc.
Congenital deficiency of alpha‐fetoprotein and associated chromosomal abnormality in the placenta
Authors: Sharony Reuven , Amiel Aliza , Bouaron Nitsan , Kidron Debora , Itzhaky Dganit , Fejgin Moshe
Published: August 2003

In this study we describe two patients with congenital absence of alpha‐fetoprotein (AFP). The pathological examination results, including an immunohistochemical stain, which define qualitatively the levels of AFP detected by the biochemical studies and the comparative genomic hybridization (CGH) are enclosed. A description of the suggested functions of AFP and the means of its production are set forth. An explanation is suggested for the lack of symptoms in a newborn with undetectable levels of AFP and the mechanism by which this condition might occur. © 2003 Wiley‐Liss, Inc.
Leaf‐pile pulling: An unusual play pattern in wild chimpanzees
Authors: Nishida Toshisada , Wallauer William
Published: August 2003

Play in nonhuman animals has generally been viewed as being uniform among study sites. No studies have examined whether there are local variations in play. In this work we report an apparently locality‐specific form of play that is basically solo locomotor play, but also has aspects of object play and social play. We describe this unusual “leaf‐pile pulling” (LPL) pattern based on video footage of the chimpanzees of Mahale, Tanzania. Typically, when a party of chimpanzees moves in a procession down a slope in the dry season, a youngster will turn around and walk backward while raking many dry leaves with both hands. This activity accumulates many dry leaves while producing a lot of sound. After the player walks 1–15 m, he/she either turns around and walks forward or moves in a somersaulting fashion. The performer usually faces an individual that is immediately following him/her in the procession. The age of the performers ranges from 2 to 22 years, but 3–10 years are most typical. Compared to younger (<8 years) individuals, older (≥8 years) individuals tend to cover longer distances during play, and to be more likely to play only on sloped surfaces and during travel. One of the authors (W.W.) has only seen the behavior exhibited by five different individuals on 10–15 occasions at Gombe. The behavior is exhibited less often at Gombe than at Mahale. To date, LPL has not been reported elsewhere. The absence of LPL at other sites may or may not be explained by environmental differences, such as differences in the availability of dead leaves and sloped terrain. Although the possibility that LPL is acquired by individual learning cannot be completely ruled out, the hypothesis that it is a tradition of the Mahale study group is more likely. This suggests that play may warrant more careful consideration in studies of nonhuman primate culture. Am. J. Primatol. 60:167–173, 2003. © 2003 Wiley‐Liss, Inc.
Experimental field study of the relative costs and benefits to wild tamarins (saguinus imperatorandS. fuscicollis) of exploiting contestable food patches as single‐ and mixed‐species troops
Authors: Bicca‐Marques Júlio César , Garber Paul A.
Published: August 2003

Several species of tamarins form stable mixed‐species troops in which groups of each species feed, forage, rest, and travel together during much of the year. Although the precise set of factors that facilitate this ecological relationship remains unclear, predator detection and foraging benefits are presumed to play a critical role in maintaining troop stability. In this work we present data from an experimental field study designed to examine how factors such as social dominance and within‐patch foraging decisions affect the costs and benefits to tamarins of visiting feeding sites as single‐ and mixed‐species troops. Our data indicate that when they exploited contestable food patches (sets of eight feeding platforms, two of which contained a 100‐g banana), each tamarin species experienced foraging costs when they arrived as part of a mixed‐species troop. These costs were found to be less severe for emperor tamarins because they were socially dominant to saddle‐back tamarins and could displace them at feeding sites. We conclude that the foraging benefits to tamarins residing in mixed‐species troops are asymmetrical, and that at feeding sites in which the amount of food in a patch is insufficient to satiate all troop members, even minor differences in the timing of return to food patches and changes in troop cohesion have a measurable effect on the costs and benefits to participating tamarin species. Am. J. Primatol. 60:139–153, 2003. © 2003 Wiley‐Liss, Inc.
Possible audience effect in thomas langurs (primates; presbytis thomasi): An experimental study on male loud calls in response to a tiger model
Authors: Wich S.A. , Sterck E.H.M.
Published: August 2003

Recent research indicates that animal vocalizations can refer to objects in the outside world, and that call production may be controlled by the sender depending on the type of audience involved. Our research on wild male Thomas langurs (Primates: Presbytis thomasi) shows that these males call as a response to a tiger model when they are in a group, but do not call when they are solitary. This is the first experimental study on wild primates to demonstrate that the presence or absence of an audience influences calling behavior. Our results indicate that males in mixed‐sex groups give more loud calls than solitary males when exposed to a predator model. This suggests that giving loud calls in response to predators is not purely a reflex and may be controlled in some way by the sender. Am. J. Primatol. 60:155–159, 2003. © 2003 Wiley‐Liss, Inc.
Diurnal patterns of urinary steroid excretion in wild chimpanzees
Authors: Muller Martin N. , Lipson Susan F.
Published: August 2003

Urinary testosterone and cortisol concentrations were quantified in a large number of samples (>500) collected from wild male chimpanzees (n=11) over the course of 1 year. For both steroids, urinary concentrations were higher and more variable in the morning than in the afternoon. Urinary creatinine levels showed no such diurnal pattern. These patterns are consistent with studies of steroid excretion in humans and gorillas. This study emphasizes the importance of considering time of day as a confounding variable in field studies of primate endocrine function. It also suggests that if a small number of samples are to be used to characterize an individual's basal steroid levels, afternoon samples may be preferable because they show less intra‐individual variability. Am. J. Primatol. 60:161–166, 2003 © 2003 Wiley‐Liss, Inc.
Crystallographic report: Tribenzyltin(IV) azide
Authors: Burke Anthony C. , Mahon Mary F. , Molloy Kieran C.
Published: August 2003

Tribenzyltin azide adopts a polymeric structure with 1,3‐bridging azide groups; the tin exhibits an almost regular trigonal bipyramidal trans‐N2SnC3 environment. Copyright © 2003 John Wiley & Sons, Ltd.
Life‐cycle toxicity of dibutyltin to the sheepshead minnow (Cyprinodon variegatus) and implications of the ubiquitous tributyltin impurity in test material
Authors: Lytle Thomas F. , Manning Charles S. , Walker William W. , Lytle Julia S. , Page David S.
Published: August 2003

Dibutyltin (DBT) is used in the plastics polymerization process as a catalyst in polyvinyl chloride (PVC) products and is the primary degradation product of tributyltin (TBT), an antifoulant in marine paint. DBT and other organotin compounds make their way into the environment through antifoulants, PVC processing plants, and PVC products maintained in water and water‐handling systems. A flow‐through saltwater life‐cycle toxicity test was conducted to determine the chronic effect of DBT to the sheepshead minnow (Cyprinodon variegatusLacepede), an estuarine species. Embryos were monitored through hatch, maturation, growth, and reproduction in DBT concentrations of 158, 286, 453, 887, and 1510 µg l−1. Progeny were monitored for survival as embryos and fry/juveniles, and growth for 30 days post‐isolation. Mean length of parental generation fish was significantly reduced on day 30 at DBT concentrations ≥887 µg l−1, setting the lowest observable effect concentration (LOEC) at 887 µg l−1and the no observable effect concentration (NOEC) at 453 µg l−1. Fecundity, as egg viability, was significantly reduced at the LOEC. Survival of parental and progeny generation embryos and mean length, wet weight and dry weight of progeny generation juveniles were not significantly affected at concentrations ≤LOEC. TBT, a toxic impurity in DBT reversibly produced in DBT by the process of comproportionation, was also monitored throughout this study. Comparing measured levels of TBT in this study with levels exerting toxic effects in an earlier TBT life‐cycle study withC. variegatussuggests biological responses in this study were likely due to the TBT impurity and not to DBT alone. Results indicate that TBT impurity as low as 0.1% may have a significant influence on the perceived toxicity of DBT and that spontaneous production of TBT in DBT may be the major source of biological toxicity of DBT. Copyright © 2003 John Wiley & Sons, Ltd.
Chelate polymers: II. Some novel transition metals complexes with azomethine‐containing siloxanes and their polyesters
Authors: Marcu Mihai , Cazacu Maria , Vlad Angelica , Racles Carmen
Published: August 2003

New Schiff bases of 2,4‐dihydroxybenzaldehyde with siloxane‐α,ω‐diamines having different numbers of siloxane units in the chain have been synthesized and characterized by spectroscopy, elemental and thermal analyses. These azomethines were found to form complexes readily with copper(II), nickel(II), cobalt(II), cadmium(II) and zinc(II). From IR and UV–Vis studies, the phenolic oxygen and imine nitrogen of the ligand were found to be the coordination sites. Thermogravimetric analysis (TGA) data indicate the chelates to be more stable than the corresponding ligands. The melting points increase with shortening of the siloxane segment from azomethine, as well as the result of complexation. The chelates obtained were covalently inserted in polymeric linear structures by polycondensation through the OH‐difunctionalized ligand with 1,3‐bis(carboxypropyl)tetramethyldisiloxane. Direct polycondensation, assisted either by acetic anhydride or N,N′‐dicyclohexylcarbodiimide as dehydrating agent and the complex 4‐(dimethylamino)pyridinium 4‐toluenesulfonate as catalyst, was used for the synthesis of these compound types. The structures of the polymers obtained were confirmed by IR, UV and 1H NMR. Characterization was undertaken by TGA, solubility tests and viscosity measurements. Copyright © 2003 John Wiley & Sons, Ltd.
Identification of arsenic species in sheep‐wool extracts by different chromatographic methods
Authors: Raab Andrea , Genney David R. , Meharg Andrew A. , Feldmann Jörg
Published: August 2003

Sheep on the island of North Ronaldsay (Orkney, UK) feed mostly on seaweed, which contains high concentrations of dimethylated arsenoribosides. Wool of these sheep contains dimethylated, monomethylated and inorganic arsenic, in addition to unidentified arsenic species in unbound and complexed form. Chromatographic techniques using different separation mechanisms and detectors enabled us to identify five arsenic species in water extracts of wool. The wool contained 5.2 ± 2.3 µg arsenic per gram wool. About 80% of the arsenic in wool was extracted by boiling the wool with water. The main species is dimethylarsenic, which accounted for about 75 to 85%, monomethylated arsenic at about 5% and the rest is inorganic arsenic. Depending on the separation method and condition, the chromatographic recovery of arsenic species was between 45% for the anion exchange column, 68% for the size exclusion chromatography (SEC) and 82% for the cation exchange column. The SEC revealed the occurrence of two unknown arsenic compounds, of which one was probably a high molecular mass species. Since chromatographic recovery can be improved by either treating the extract with CuCl/HCl (CAT: 90%) or longer storage of the sample (CAT: 105%), in particular for methylated arsenic species, it can be assumed that labile arsenic–protein‐like coordination species occur in the extract, which cannot be speciated with conventional chromatographic methods. It is clear from our study of sheep wool that there can be different kinds of ‘hidden’ arsenic in biological matrices, depending on the extraction, separation and detection methods used. Hidden species can be defined as species that are not recordable by the detection system, not extractable or do not elute from chromatographic columns. Copyright © 2003 John Wiley & Sons, Ltd.
Crystallographic report: Diaquacadmium bis(iminodiacetato)cobaltate, a two‐dimensional heterometallic network
Authors: Long La‐Sheng , Ren Yan‐Ping , Huang Rong‐Bin , Zheng Lan‐Sun , Ng Seik Weng
Published: August 2003

In the title compound, each Cd(H2O)22+ is linked to two carboxyl and two carbonyl oxygen atoms, all belonging to different [(NC4H5O4)2Co]2− moieties, to furnish a two‐dimensional heterometallic network. Both metal atoms display octahedral coordination. The layers are further held together by hydrogen bonding interactions. Copyright © 2003 John Wiley & Sons, Ltd.