bluuebunny/crossref_metadata_2025_split huggingface dataset:
Denitrification and Pesticide Elimination in Drinking Water Treatment with the Biodegradable Polymer Poly(ϵ‐caprolactone) (PCL)
Authors: Boley Angela , Mergaert Joris , Muller Claude , Lebrenz Henning , Cnockaert Margo C. , Müller Wolf‐Rüdiger , Swings Jean 
Published: December 2003

AbstractA combination of denitrification and pesticide sorption with the biodegradable polymer poly(ϵ‐caprolactone) (PCL) was examined. The function of PCL is to act as carbon source and carrier for the bacteria and simultaneously as sorbent for the pesticide endosulfan.In a short‐term examination (1 month) the addition of the pesticide endosulfan to a continuous‐flow fixed‐bed reactor resulted in an inhibition of biomass production without reduction of the denitrification performance. However in a long‐term semi‐batch reactor test (6 months) biomass production and partly denitrification rates were affected.No significant differences in microbial composition between the reactors were observed. Regardless of the type of reactor or presence of endosulfan, Acidovorax facilis was the main constituent.
Anomalous Gadolinium, Cerium, and Yttrium Contents in the Adige and Isarco River Waters and in the Water of Their Tributaries (Provinces Trento and Bolzano/Bozen, NE Italy)
Authors: Möller Peter , Morteani Giulio , Dulski Peter 
Published: December 2003

AbstractRare earth patterns of surface and groundwaters near big cities often show anthropogenic Gd (Gdant) anomalies in addition to geogenic Ce and Y anomalies. The Gdant anomaly is caused by very stable organic complexes, one of which is gadopentetic acid, Gd‐DTPA. Derivatives of this and similar compounds are used as contrast agents in magnetic resonance imaging (MRI) of the human blood system. The organic Gd complexes are stable enough to pass nearly unaffected through sewage treatment plants and are, thereafter, discharged into surface water systems. Water of the rapidly flowing Isarco/Eisack and Adige/Etsch rivers (Provinces of Trento and Bolzano/Bozen, NE Italy) and their tributaries show remarkable variations in anthropogenic Gd contents (Gdant). Low Gdant values are found on Monday and Tuesday, whereas high values are observed during the remaining weekdays. Reliable Gdant balances are calculated for the river system at the confluence of the Adige and its tributaries. At two places local decrease of Gdant indicates exfiltration of groundwater. It is demonstrated that Gdant can be used as a reliably conservative tracer to study the water budget in rapidly flowing alpine river systems. The studied different river waters show considerable negative Ce and positive Y anomalies. Negative Ce anomalies are caused by scavenging of Ce(III) by FeO(OH) precipitates and subsequent oxidation to CeO2. Y anomalies are attributed to less sorption of Y than REE onto particulate matter. Thus, Y moves faster than REE. Both, Ce and Y anomalies, are of geogenic origin.
Pendred syndrome and DFNB4‐mutation screening of SLC26A4 by denaturing high‐performance liquid chromatography and the identification of eleven novel mutations
Authors: Prasad Sai , Kölln Karen A. , Cucci Robert A. , Trembath Richard C. , Camp Guy Van , Smith Richard J.H. 
Published: December 2003

AbstractMutations in SLC26A4 cause Pendred syndrome, an autosomal‐recessive disorder characterized by sensorineural deafness and goiter, and DFNB4, a type of autosomal recessive nonsyndromic deafness in which, by definition, affected persons do not have thyromegaly. The clinical diagnosis of these two conditions is difficult, making mutation screening of SLC26A4 a valuable test. Although screening can be accomplished in a variety of ways, all techniques are not equally accurate, timely or cost effective. We found single‐strand conformational polymorphism analysis (SSCP) to be 63% effective in detecting mutations a panel of different SLC26A4 allele variants when compared to data from direct sequencing. Because direct sequencing can be time consuming and expensive, especially for a gene with 21 exons, we studied DHPLC as an alternative screening method. We found DHPLC as accurate and reliable as direct sequencing but to be more rapid and cost effective. In addition, we report 11 novel disease‐causing allele variants of SLC26A4. © 2003 Wiley‐Liss, Inc.
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI): Report on 23 patients and review of the literature
Authors: Al‐Hussain Hailah , Zeisberger Steffen M. , Huber Peter R. , Giunta Cecilia , Steinmann Beat 
Published: December 2003

AbstractThe brittle cornea syndrome (BCS) is a generalized connective tissue disorder characterized by corneal rupture following only minor trauma, keratoconus or keratoglobus, blue sclerae, hyperelasticity of the skin without excessive fragility, and hypermobility of the joints. It is inherited as an autosomal recessive trait but the underlying genetic defect remains undetermined. We present 23 patients (11 male) from 13 nuclear families followed at the King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia, aged 3–28 years at last follow‐up. A total of 28 events of corneal rupture were noted in 17 patients (eight male), among whom nine had had bilateral ruptures, and eight had had unilateral ruptures (four of the right cornea), while two had experienced re‐rupture 2 and 4 years, respectively, after surgery; six patients (aged 3–21 years) had had no ruptures. We describe the natural history of our cases and discuss them together with those others reported in the literature. Because of similarities between the BCS and the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VI), both disorders tend to have been confounded. Here, we show that all of our BCS patients tested in this regard had biochemical findings reflective of normal activity of lysyl hydroxylase, characteristically deficient in EDS VI, such as normal urinary total pyridinoline ratios and/or normal electrophoretic migration of collagen chains produced by dermal fibroblasts. The BCS is, therefore, an entity distinct from the kyphoscoliotic type of EDS, which has a much poorer prognosis. © 2003 Wiley‐Liss, Inc.
Molecular cytogenetic characterization of a recombinant chromosome rec(22)dup(22q)inv(22)(p13q12.2)
Authors: Tonk Vijay S. , Jesurun C.A. , Morgan David L. , Lockhart Lillian H. , Velagaleti Gopalrao V.N. 
Published: December 2003

AbstractPericentric inversions occur at a frequency of 0.12–0.7% in humans. However, pericentric inversions of chromosome 22 appear to be common, especially in patients originating from the Guadalajara region of Mexico. Here, we report a seventh case of a pericentric inversion of chromosome 22, the resulting recombinant chromosome, and describe the phenotypic features associated with such a recombinant chromosome. It is interesting that five of the seven patients with inv(22) come from Mexico, and four of the five patients from the Guadalajara region. © 2003 Wiley‐Liss, Inc.
Prenatal diagnosis of fetal trisomy 6 mosaicism and phenotype of the affected newborn
Authors: Wegner Rolf‐Dieter , Entezami Michael , Knoll Ute , Horn Denise , Sohl Susanne , Becker Rolf 
Published: December 2003

AbstractThe first case of a fetal trisomy 6 mosaicism proven at 25 weeks of gestation by analysis of fetal urine cells is described. Chromosomal analysis was indicated by an ultrasonographically diagnosed heart defect at 21 weeks of gestation. The chromosomal aberration was detected in amniotic fluid cells while fetal blood cells showed a normal chromosome set. At term a boy with normal growth parameter was born. In addition to the expected heart defect, malformations of hands and feet were present. © 2003 Wiley‐Liss, Inc.
Desbuquois dysplasia, a reevaluation with abnormal and “normal” hands: Radiographic manifestations
Authors: Faivre Laurence , Cormier‐Daire Valérie , Eliott Alison M. , Field Fiona , Munnich Arnold , Maroteaux Pierre , Merrer Martine Le , Lachman Ralph 
Published: December 2003

AbstractRadiological features of 35 patients with the diagnosis of Desbuquois dysplasia were analyzed. The diagnosis of Desbuquois dysplasia was based on the association of specific facial alterations, markedly short stature of prenatal onset, joint laxity, ‘Swedish key’ appearance of the proximal femur, and advanced carpal and tarsal bone age. Patients were divided into two groups, depending on whether or not typical hands with an extra ossification center distal to the second metacarpal and/or a delta phalanx of the thumb were present (group 1, 46%) or absent (group 2, 54%). In this study, beside the ‘Swedish key’ appearance of the proximal femur and advanced carpal and tarsal ossification, we were able to define three additional major radiographic criteria for the diagnosis of Desbuquois dysplasia, including flat acetabular roof, elevated greater trochanter, and proximal fibular overgrowth. Other manifestations included wide metaphyses, flat epiphyses, coxa valga, coronal and saggital clefts of the vertebrae, wide anterior rib portions, medial deviation of the foot, and enlarged first metatarsal. We conclude that characteristic hand abnormalities are not mandatory for the diagnosis of Desbuquois dysplasia. © 2003 Wiley‐Liss, Inc.
Long‐term outcome in desbuquois dysplasia: A follow‐up in four adult patients
Authors: Faivre Laurence , Cormier‐Daire Valérie , Young Ian , Bracq Henri , Finidori Georges , Padovani Jean Paul , Odent Sylvie , Lachman Ralph , Munnich Arnold , Maroteaux Pierre , Merrer Martine Le 
Published: December 2003

AbstractDesbuquois dysplasia is a rare chondrodysplasia characterized by short stature, joint laxity, and specific radiographic findings. We report the natural history of four patients (three boys and one girl) with Desbuquois dysplasia ages 16–22 years. The mean height in adulthood was 114 cm (−8.5 SD) with progressive deceleration of the growth curve from birth (−4 SD) to adulthood. Obesity was noted consistently and facial abnormalities were still present but less obvious than in childhood. Three of four patients had mental retardation of varying degree. Hyperlaxity was persistent but limited motion of various joints was also noted. Orthopedic complications included coxa vara or valga (3/4), scoliosis (3/4), marked lordosis (3/4), and ambulatory difficulties (3/4). Surgical treatment was necessary for all four patients, involving large joints, spine and hands. Other complications included acute open‐angle glaucoma secondary to a congenital malformation of the angle in one case. In addition to consistent radiological findings, elevated greater trochanter, generalized osteoporosis especially of the spine, scoliosis and/or lordosis, wide metaphyses, flat epiphyses, and coxa vara or valga were part of the natural history of the disorder. Our study emphasizes the care of older patients with Desbuquois dysplasia. © 2003 Wiley‐Liss, Inc.
Magnetic resonance imaging shows delayed ischemic striatal neurodegeneration
Authors: Fujioka Masayuki , Taoka Toshiaki , Matsuo Yoshiyuki , Mishima Kenichi , Ogoshi Kumiko , Kondo Yoichi , Tsuda Masakazu , Fujiwara Michihiro , Asano Takao , Sakaki Toshisuke , Miyasaki Akihiro , Park Darren , Siesjö Bo K. 
Published: December 2003

AbstractBrief focal ischemia leading to temporary neurological deficits induces delayed hyperintensity on T1‐weighted magnetic resonance imaging (MRI) in the striatum of humans and rats. The T1 hyperintensity may stem from biochemical alterations including manganese (Mn) accumulation after ischemia. To clarify the significance of this MRI modification, we investigated the changes in the dorsolateral striatum of rats from 4 hours through 16 weeks after a 15‐minute period of middle cerebral artery occlusion (MCAO), for MRI changes, Mn concentration, neuronal number, reactivities of astrocytes and microglia/macrophages, mitochondrial Mn‐superoxide dismutase (Mn‐SOD), glutamine synthetase (GS), and amyloid precursor protein. The cognitive and behavioral studies were performed in patients and rats and compared with striatal T1 hyperintensity to show whether alteration in brain function correlated with MRI and histological changes. The T1‐weighted MRI signal intensity of the dorsolateral striatum increased from 5 days to 4 weeks after 15‐minute MCAO, and subsequently decreased until 16 weeks. The Mn concentration of the dorsolateral striatum increased after ischemia in concert with induction of Mn‐SOD and GS in reactive astrocytes. The neuronal survival ratio in the dorsolateral striatum decreased significantly from 4 hours through 16 weeks, accompanied by extracellular amyloid precursor protein accumulation and chronic glial/inflammatory responses. The patients and rats with neuroradiological striatal degeneration had late‐onset cognitive and/or behavioral declines after brief focal ischemia. This study suggests that (1) the hyperintensity on T1‐weighted MRI after mild ischemia may involve tissue Mn accumulation accompanied by Mn‐SOD and GS induction in reactive astrocytes, (2) the MRI changes correspond to striatal neurodegeneration with a chronic inflammatory response and signs of oxidative stress, and (3) the subjects with these MRI changes are at risk for showing a late impairment of brain function even though the transient ischemia is followed by total neurological recovery. Ann Neurol 2003;54:732–747
The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene
Authors: Rossmanith Walter , Raffelsberger Thomas , Roka Julia , Kornek Barbara , Feucht Martha , Bittner Reginald E. 
Published: December 2003

AbstractIn a case of childhood‐onset myoclonus epilepsy with “ragged‐red fibers” (MERRF), a hitherto unreported mutation within the mitochondrial tRNALys gene was identified as the cause of the disease. Substitution G8361A was maternally inherited, heteroplasmic in all tissues tested, and correlated with mitochondrial dysfunction in individual muscle fibers. The growing number of MERRF‐associated mutations within the tRNALys gene affirms the specific role of this mitochondrial tRNA in the pathogenesis of the disease.
Chlamydia pneumoniae and the risk for exacerbation in multiple sclerosis patients
Authors: Buljevac Dragan , Verkooyen Roel P. , Jacobs Bart C. , Hop Wim , van der Zwaan Liesbeth A. , van Doorn Pieter A. , Hintzen Rogier Q. 
Published: December 2003

AbstractIn this prospective study of 73 relapsing remitting multiple sclerosis patients followed up for a mean of 1.7 years, the relation was tested between serologically defined Chlamydia pneumoniae (CP) infection periods and exacerbation rate. Episodes of serologically defined CP infections were observed in a subgroup, and these episodes were associated with increased risk for exacerbation. CP polymerase chain reaction was positive in most of the CP seropositive patients. No correlation was found between the anti–CP antibody increase and titers of control antibodies.
Insertion of mutant proteolipid protein results in missorting of myelin proteins
Authors: Vaurs‐Barriere Catherine , Wong Kondi , Weibel Thais D. , Abu‐Asab Mones , Weiss Michael D. , Kaneski Christine R. , Mixon Tong‐Hui , Bonavita Simona , Creveaux Isabelle , Heiss John D. , Tsokos Maria , Goldin Ehud , Quarles Richard H. , Boespflug‐Tanguy Odile , Schiffmann Raphael 
Published: December 2003

AbstractTwo brothers with a leukodystrophy, progressive spastic diplegia, and peripheral neuropathy were found to have proteinaceous aggregates in the peripheral nerve myelin sheath. The patients' mother had only subclinical peripheral neuropathy, but the maternal grandmother had adult‐onset leukodystrophy. Sequencing of the proteolipid protein (PLP) gene showed a point mutation IVS4 + 1 G→A within the donor splice site of intron 4. We identified one transcript with a deletion of exon 4 (Δex4, 169bp) encoding for PLP and DM20 proteins and lacking two transmembrane domains, and a second transcript with exon 4 + 10bp encoding three transmembrane domains. Immunohistochemistry showed abnormal aggregation in the myelin sheath of MBP and P0. Myelin‐associated glycoprotein was present in the Schmidt–Lanterman clefts but significantly reduced in the periaxonal region. Using immunogold electron microscopy, we demonstrated the presence of mutated PLP/DM20 and the absence of the intact protein in the patient peripheral myelin sheath. We conclude that insertion of mutant PLP/DM20 with resulting aberrant distribution of other myelin proteins in peripheral nerve may constitute an important mechanism of dysmyelination in disorders associated with PLP mutations. Ann Neurol 2003;54:769–780
Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2
Authors: Mankodi Ami , Teng‐Umnuay Patana , Krym Matt , Henderson Don , Swanson Maurice , Thornton Charles A. 
Published: December 2003

AbstractMyotonic dystrophy type 1 (DM1) and type 2 (DM2) are caused by genomic expansions of CTG or CCTG repeats. When transcribed, these mutations give rise to repeat expansion RNAs that form nuclear inclusions and compromise the function of myonuclei. Here, we have used in situ hybridization and immunofluorescence to compare DM1 and DM2 and search for proteins that associate with the RNA nuclear (ribonuclear) inclusions. Although muscle disease is generally more severe in DM1, the ribonuclear inclusions were 8‐ to 13‐fold more intense in DM2, implying greater amounts of repeat expansion RNA. Expression of repeat expansion RNA in myoblasts has been implicated in the pathogenesis of congenital DM1. However, we found that repeat expansion RNA is also expressed in myoblasts in DM2, a disorder that has not been associated with a congenital phenotype. Of 10 putative CUG binding proteins tested for colocalization with mutant RNA, only proteins in the muscleblind family were recruited into ribonuclear inclusions. Previous studies have shown activation of the protein kinase, PKR, by expanded CUG repeats in vitro. However, breeding experiments utilizing PKR knockout mice indicate that this kinase is not required for disease pathogenesis in a transgenic mouse model of DM1. We conclude that ribonuclear inclusions are a key feature of the muscle pathology in DM and that sequestration of muscleblind proteins may have a direct role in the disease process. Ann Neurol 2003;54:760–768
Myofibrillar myopathy caused by novel dominant negative αB‐crystallin mutations
Authors: Selcen Duygu , Engel Andrew G. 
Published: December 2003

AbstractWe here report the second and third mutations in αB‐crystallin causing myofibrillar myopathy. Two patients had adult‐onset muscle weakness. Patient 1 had cervical, limb girdle, and respiratory muscle weakness and died of respiratory failure. Patient 2 had proximal and distal leg muscle weakness. Both had myopathic electromyogram with abnormal electrical irritability and muscle biopsy findings of myofibrillar myopathy and mild denervation. Myofibrillar disintegration begins at the Z‐disk and results in abnormal local expression of desmin, αB‐crystallin, dystrophin, neural cell adhesion molecule (NCAM), and CDC2 kinase. Seven to 8% of nuclei display early apoptotic changes. Both patients carry a truncating mutation in the C‐terminal region of αB‐crystallin (464delCT in Patient 1 and Q151X in Patient 2) which is crucial for the solubilization and chaperone functions of the molecule. cDNA analysis shows the same mutations and no alternatively spliced transcripts. Immunoblots of muscle demonstrate increased expression of wild‐type and reduced expression of the mutant protein. Immunoblots under nondenaturing conditions show that the mutant protein forms lower than normal molecular weight multimeric complexes with wild type. We conclude that (1) despite its reduced expression, the mutant protein exerts a dominant negative effect; (2) mutations in αB‐crystallin are an infrequent cause of myofibrillar myopathy; (3) αB‐crystallin–related myopathies display phenotypic heterogeneity. Ann Neurol 2003;54:804–810
Domänen und Rafts in Lipidmembranen
Authors: Binder Wolfgang H. , Barragan Veronique , Menger Fredric M. 
Published: December 2003

Abstract“It takes a membrane to make sense out of disorder in biology. You have to be able to catch energy and hold it, storing precisely the needed amount and releasing it in measured shares.” Die herausragende Rolle von Domänen und “Rafts” für das von Lewis Thomas in The Lives of Cells so treffend beschriebene Verhalten von Lipidmembranen ist Gegenstand dieses Aufsatzes. Erläutert wird der experimentelle Nachweis, der Aufbau und die Bildung von Domänen sowie die Eigenschaften von Rafts – einer speziellen Form von Domäne – und ihr möglicher Einfluss auf menschliche Krankheiten. Lipide, Polymere und Proteine können zu solchen Mikro‐ und Nanostrukturierungen innerhalb einer Membran beitragen, wodurch ein neuer Typ struktureller Ordnung in Doppelschichtmembranen entsteht. Ein Verständnis für diese unterschiedlichen Arten von Ordnungen innerhalb selbstorganisierter Systeme zu vermitteln, ist vorrangiges Ziel dieses Aufsatzes.
Nonequilibrium particle morphology development in seeded emulsion polymerization. III. Effect of initiator end groups
Authors: Stubbs Jeffrey M. , Sundberg Donald C. 
Published: December 2003

AbstractIn previous work (L. Karlsson et al., Journal of Applied Polymer Science, 2002, 2003, Vol. 90, pp. 905–915; J. M. Stubbs et al., Colloids and Surfaces A: Physiochemical and Engineering Aspects, 1999, Vol. 153, pp. 255–270) we have explained the development of composite particle morphologies produced by seeded emulsion polymerization in terms of the ability of second stage polymer radicals to diffuse into, or “penetrate,” the seed particles. This has been quantified (Stubbs et al., ibid) by calculating so‐called “fractional penetration” values for the second‐stage radicals. In this article the effect of the second‐stage initiator type, specifically nonionic vs ionic initiators, on particle morphology is investigated. The question to be answered is whether charged (ionic) end groups (from the initiator) on second stage polymer chains “anchor” to the particle surface, making it more likely to form core–shell morphologies. This is investigated by using a poly(methyl acrylate‐co‐methyl methacrylate) [P(MA‐co‐MMA)] seed latex and polymerizing styrene in the second stage in a semibatch manner using various feed rates of styrene. At each feed rate one reaction was conducted using potassium persulfate as the initiator, which produces charged end groups, and another using VA‐086 initiator, which produces uncharged end groups. The morphologies of the resulting particles were then observed by transmission electron microscopy. It is shown that under some conditions ionic initiators do make it more likely to obtain core‐shell morphologies, but that this effect is not dominant under most conditions. The resulting morphologies agree quite well with the predictions of the fractional penetration calculations. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 91: 1538–1551, 2004