bluuebunny/crossref_metadata_2025_split huggingface dataset:
Two sisters with Silver–Russell phenotype
Authors: Õunap Katrin , Reimand Tiia , Mägi Marja‐Liis , Bartsch Oliver 
Published: November 2004

AbstractSilver–Russell syndrome (SRS) is a well recognizable syndrome, but the etiology of SRS seems to be heterogeneous. SRS is listed in Mendelian Inheritance in Man as an autosomal dominant disorder because most described cases have been of sporadic occurrence, and most likely were caused by de novo autosomal dominant mutation, and because families with apparent dominant transmission of a SRS phenotype have been described. Still, in a few families, autosomal recessive inheritance has been suggested. We describe two sisters who meet the criteria for SRS proposed by Price et al. [1999]. The parents had normal facial features, normal height, and normal post‐natal growth. This is the second well‐documented case of familial recurrence of SRS that resembles an autosomal recessive inheritance pattern. Since sib recurrence is so rare in SRS, other modes of inheritance should be considered. The finding of maternal uniparental disomy 7 (mUPD7) in 10% of SRS cases suggests that lack of paternally expressed imprinted gene(s) or overexpression of maternal imprinted gene(s) on chromosome 7 cause SRS. The recurrence in sibs could be caused by a mutation in the imprinted gene or imprinting center carried by one parent. Alternatively, recurrence in sibs could represent germ line mosaicism for a dominant mutation in one of the parents. © 2004 Wiley‐Liss, Inc.
A founder effect in three large Newfoundland families with a novel clinically variable spastic ataxia and supranuclear gaze palsy
Authors: Grewal K.K. , Stefanelli M.G. , Meijer I.A. , Hand C.K. , Rouleau G.A. , Ives E.J. 
Published: November 2004

AbstractA distinctive slowly progressive neurodegenerative disorder, which falls under a new category of neurological diseases, the hereditary spastic ataxias (HSA), is described in three independently ascertained Newfoundland kindreds. HSA is a heterogeneous group of disorders in which pyramidal tract features overlap cerebellar characteristics. The families are assumed to have the same condition as, although apparently unrelated, all originate in a historically isolated cluster of rural communities and link to the same locus at 12p13, SAX1. Clinically the phenotype is very variable but lower limb hypertonicity and hyperreflexia are early and prominent generally preceded by eye movement abnormality, an impaired vertical downward saccade and a typical involuntary head jerk. These are followed by variable levels of ataxia, dysarthria, and dysphagia. Onset occurs in the first two decades and can be detected in most by early adulthood. Significant mobility problems are present by the fourth decade with a broad based ataxic and spastic gait. MRI scans of brain and spinal cord were normal. Neuropathology showed degeneration of corticospinal tracts and posterior columns and midbrain neuronal loss. The phenotype is striking in its diversity among and within families and the variability of expression can be observed within the same sibship. Pedigree analysis shows no evidence of anticipation or any sex differences in severity. The condition is unusually prevalent in the province of Newfoundland, which is characteristic of a founder effect followed by isolation and large family size. Fine mapping efforts have reduced the critical interval of the SAX1 locus to 1.9Mb. Identification of the SAX1 gene will help to clarify the pathogenesis of this type of HSA. © 2004 Wiley‐Liss, Inc.
Late‐onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation
Authors: Barthélémy Cyrille , Ogier De Baulny Hélène , Diaz Jorge , Armelle Cheval Marie , Frachon Paule , Romero Norma , Goutieres Françoise , Fardeau Michel , Lombès Anne 
Published: November 2004

AbstractThrough a report of 4 late‐onset cases with mitochondrial DNA (mtDNA) depletion, we address the specificity of the clinical entities associated with a very low residual amount of mtDNA. Three of the patients met the diagnostic criteria of Kearns Sayre syndrome, which has never been associated with mtDNA depletion. The fourth patient had an isolated skeletal myopathy. Deleted mtDNA molecules were found by long‐range polymerase chain reaction (PCR) only in the Kearns Sayre syndromes, which strengthens the clinical differences between the two types of patients. All patients had extremely low residual amounts of mtDNA as shown by Southern blot analysis. Using an original method based on competitive PCR, we were able to measure the number of mtDNA copies per diploid genome. These results demonstrated the severity of the depletion in the patients by comparison not only to normal controls but also to patients with mtDNA disorders. Despite the severity of the depletion, in situ hybridization using two mtDNA transcripts revealed a normal steady‐state level of transcription. Such compensation provides clues to the striking contrast between the severity of mtDNA depletion and the late onset and slowly progressive disease.
Cellular and humoral immune response in progressive multifocal leukoencephalopathy
Authors: Weber Frank , Goldmann Claudia , Krämer Marcus , Kaup Franz Josef , Pickhardt Marcus , Young Peter , Petry Harald , Weber Thomas , Lüke Wolfgang 
Published: November 2004

AbstractProgressive multifocal leukoencephalopathy (PML) is a fatal, demyelinating disease caused by JC virus (JCV) in patients with severe immunosuppression. We studied the JCV‐specific cellular and humoral immune response in 7 healthy donors (HD), 6 human immunodeficiency virus‐1 (HIV‐1)‐infected patients without PML (HIV), 4 HIV‐1‐negative patients with PML (PML), and 8 HIV‐1‐positive patients with PML (HIV/PML). As antigens, recombinant virus‐like particles of the major structural protein VP1 (VP1‐VLP) of JCV, tetanus toxoid (TT), or the mitogen phytohemagglutinin (PHA) were used. Proliferation of peripheral blood mononuclear cells (PBMC) after stimulation with the VP1‐VLP was significantly suppressed in PML and HIV/PML patients compared to HD. After antigen stimulation the production of interferon‐γ (IFN‐γ) was reduced in PML, in HIV/PML, and in HIV patients. The production of interleukin‐10 (IL‐10), however, was elevated in HIV/PML patients. Neither proliferation nor cytokine production correlated with the presence of JCV DNA in PBMC. The immunoglobulin G serum antibody titer to the VP1‐VLP was slightly elevated in HIV, elevated in PML, and highly elevated in HIV/PML patients compared to HD. The development of PML appears to coincide with a general impairment of the Th1‐type T‐helper cell function of cell‐mediated immunity.
Presence of Chlamydia pneumoniae DNA in the cerebral spinal fluid is a common phenomenon in a variety of neurological diseases and not restricted to multiple sclerosis
Authors: Gieffers Jens , Pohl Daniela , Treib Johannes , Dittmann Rike , Stephan Christoph , Klotz Karl , Hanefeld Folker , Solbach Werner , Haass Anton , Maass Matthias 
Published: November 2004

AbstractChlamydial DNA and viable organisms have been reported in the cerebrospinal fluid (CSF) of multiple sclerosis (MS) patients. We investigated whether this phenomenon is specific for MS and not occurring in patients with other neurological diseases (OND) or in healthy controls and whether it is caused by infected blood monocytes having crossed the blood–brain barrier. Twelve (21%) of fifty‐eight MS patients and 20 (43%) of 47 OND patients had Chlamydia pneumoniae DNA in the CSF as determined by nested polymerase chain reaction. Viable organisms were cultured from one OND patient. We failed to detect C. pneumoniae in the CSF of 67 neurologically healthy persons. C. pneumoniae was detected in parallel in the blood monocytes of 2 of 6 CSF‐positive MS patients and in 8 of 10 CSF‐positive OND patients. Thus, chlamydial presence cannot exclusively be explained as being caused by contaminating infected monocytes that have crossed the blood–brain barrier. In peripheral blood mononuclear cell‐negative patients, chlamydia have been cleared from the circulation but persist in the central nervous system (CNS), indicating the establishment of a chronic process. In summary, the presence of C. pneumoniae in patients with neurological diseases is a common phenomenon and is not restricted to MS patients. The pathogenetic relevance of a chronic chlamydial CNS infection for neurological diseases remains unclear, but the hypothesis that susceptible patients may be impaired in their ability to clear chlamydiae from the CNS requires further examination.
Exercise intolerance in mitochondrial myopathy is not related to lactic acidosis
Authors: Vissing John , Gansted Uffe , Quistorff Bjørn 
Published: November 2004

AbstractIn a double‐blinded, placebo‐controlled, crossover study in seven mitochondrial myopathy patients (MM), we investigated whether lowering of lactate with dichloroacetate (DCA) can improve exercise tolerance and oxidative capacity in MM. DCA lowered plasma lactate at rest and during exercise (from 10.5 ± 2.0 to 5.0 ± 1.6 mM; p = 0.005) but did not improve maximal work load or VO2 in cycle exercise or phosphorous magnetic resonance spectroscopy (31P‐MRS)‐assessed indices of muscle oxidative metabolism. This indicates that lactate acidosis is not the primary cause of exercise intolerance in MM.
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy
Authors: Valentino Maria Lucia , Barboni Piero , Ghelli Anna , Bucchi Laura , Rengo Chiara , Achilli Alessandro , Torroni Antonio , Lugaresi Alessandra , Lodi Raffaele , Barbiroli Bruno , Dotti MariaTeresa , Federico Antonio , Baruzzi Agostino , Carelli Valerio 
Published: November 2004

AbstractA novel mitochondrial DNA (mtDNA) transition (3733G→A) inducing the E143 K amino acid change at a very conserved site of the NADH dehydrogenase subunit 1 (ND1) was identified in a family with six maternally related individuals with Leber's hereditary optic neuropathy (LHON) and in an unrelated sporadic case, all negative for known mutations and presenting with the canonical phenotype. The transition was not detected in 1,082 control mtDNAs and was heteroplasmic in several individuals from both pedigrees. In addition, the mtDNAs of the two families were found to belong to different haplogroups (H and X), thus confirming that the 3733G→A mutation occurred twice independently. Phosphorus magnetic resonance spectroscopy disclosed an in vivo brain and skeletal muscle energy metabolism deficit in the four examined patients. Muscle biopsy from two patients showed slight mitochondrial proliferation with abnormal mitochondria. Biochemical investigations in platelets showed partially insensitive complex I to rotenone inhibition. We conclude that the 3733G→A transition is a novel cause of LHON and, after those at positions 3460 and 4171, is the third ND1 mutation to be identified in multiple unrelated families. This finding shows that, in addition to ND6, the ND1 subunit gene is also a mutational hot spot for LHON. Ann Neurol 2004;56:631–641
Serum lipids and hippocampal volume: The link to Alzheimer's disease?
Authors: Wolf Henrike , Hensel Anke , Arendt Thomas , Kivipelto Miia , Winblad Bengt , Gertz Hermann‐Josef 
Published: November 2004

AbstractThe association between hippocampal volume (as a presumed index of Alzheimer's disease pathology) with serum total cholesterol, high‐density lipoprotein cholesterol, and low‐density lipoprotein cholesterol was studied in 86 elderly subjects with a range of cognitive functions. High‐density lipoprotein cholesterol, but not low‐density lipoprotein cholesterol or total cholesterol, was associated with hippocampal volume and dementia. This is compatible with protective effects of high‐density lipoprotein cholesterol on hippocampal atrophy and Alzheimer's disease. Ann Neurol 2004;56:745–749
Diphenylarsinic acid poisoning from chemical weapons in Kamisu, Japan
Authors: Ishii Kazuhiro , Tamaoka Akira , Otsuka Fujio , Iwasaki Nobuaki , Shin Kenji , Matsui Akira , Endo Ginji , Kumagai Yoshito , Ishii Tetsuro , Shoji Shin'ichi , Ogata Tsuyoshi , Ishizaki Mutsuo , Doi Mikio , Shimojo Nobuhiro 
Published: November 2004

AbstractWe noted a new clinical syndrome with prominent cerebellar symptoms in apartment building residents in Kamisu, Japan. The well that provided drinking water contained diphenylarsinic acid, a degradation product of diphenylcyanoarsine or diphenylchloroarsine, which were developed for use as chemical weapons, inducing severe vomiting and sneezing. Characteristics of diphenylarsinic acid poisoning include brainstem–cerebellar and cerebral symptoms. Mental retardation associated with brain atrophy in magnetic resonance images was evident in some infants. We must be vigilant to prevent or minimize the effects of further diphenylarsinic acid poisoning in Japan or elsewhere. Ann Neurol 2004;56:741–745
Photoinduced birefringence properties of poly‐Schiff bases containing triphenylamine
Authors: Niu Haijun , Huang Yudong , Bai Xuduo , Li Xin , Yang Qingxin 
Published: November 2004

AbstractAnisotropy was induced in poly‐Schiff bases containing triphenylamine with linearly polarized light at 488 nm. Both writing and relaxation processes were described with a biexponential function. The alignment process involved two response modes: a fast response mode and a slow one. The fast response mode was associated with angular‐dependent trans–cis photoisomerization, whereas the slow one was attributed to the position adjustment of the rigid main chains used to obtain well‐aligned monodomains. The writing rate increased with an increase in the light intensity at a low intensity of the irradiation light. Structural factors such as main‐chain rigidity seemed to play important roles in the remaining stored information. The two polymers had large photoinduced birefringence values (0.01 and 0.0015, respectively). © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 94: 2274–2279, 2004
Competitive removal of Pb2+, Cd2+, and Zn2+ by poly(acrylamide‐co‐maleic acid) hydrogels/differential pulse polarographic determination
Authors: İnam Recai , Gümüş Yeliz , Çaykara Tuncer 
Published: November 2004

AbstractPoly(acrylamide‐co‐maleic acid) [P(AAm/MA)] hydrogels, with various compositions, were prepared from ternary mixtures of acrylamide (AAm)/maleic acid (MA)/water by using 60Co γ‐rays. The effect of composition of these hydrogels, on the competitive removal of Pb2+, Cd2+, and Zn2+ ions from aqueous solution, was investigated. The hydrogel compositions and their adsorption behaviors were determined by use of differential pulse polarography, a very sensitive electroanalytical technique. It was observed that the external stimuli of pH, temperature, and ionic strength have an important role on the adsorption. The increments of MA content in P(AAm/MA) hydrogels caused a significant increase in the adsorption these ions. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 94: 2401–2406, 2004
Superabsorbent polymeric materials. XIV. Preparation and water absorbency of nanocomposite superabsorbents containing intercalated hydrotalcite
Authors: Lee Wen‐Fu , Chen Yung‐Chu 
Published: November 2004

AbstractA series of novel xerogels, based on sodium acrylate (NaA), intercalated hydrotalcite (IHT), and N,N′‐methylene‐bisacrylamide (NMBA), were prepared by inverse suspension polymerization. The influences of the HT intercalated with acrylic acid (AA–IHT) and with 2‐acryloylamido‐2‐methyl propane sulfonic acid (AMPS–IHT), the content of the IHT in the poly(NaA) gel on the water absorbency, and the initial absorption rate in deionized water and various salt solutions were investigated. Results showed that adding a small amount of IHT could effectively increase the water absorbency of the gels, but adding excess IHT could decrease the water absorbency of the gels. In addition, the water absorbency of the gels containing AA–IHT was lower than that containing AMPS–IHT. The initial absorption rate, for the present gels, increased with increasing content of IHT in the copolymeric gels. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 94: 2417–2424, 2004
In situ copolymerization of ethylene to produce linear low‐density polyethylene by Ti(OBu)4/AlEt3‐MAO/SiO2/Et(Ind)2ZrCl2
Authors: Zhu Bochao , Guo Cunyue , Liu Zhongyang , Yin Yuanqi 
Published: November 2004

AbstractLinear low‐density polyethylene (LLDPE) is produced in a reactor from single ethylene feed by combining Ti(OBu)4/AlEt3, capable of forming α‐olefins (predominantly 1‐butene), with SiO2‐supported Et(Ind)2ZrCl2 (denoted MAO/SiO2/Et(Ind)2ZrCl2), which is able to copolymerize ethylene and 1‐butene in situ with little interference in the dual‐functional catalytic system. The two catalysts in the dual‐functional catalytic system match well because of the employment of triethylaluminum (AlEt3) as the single cocatalyst to both Ti(OBu)4 and MAO/SiO2/Et(Ind)2ZrCl2, exhibiting high polymerization activity and improved properties of the obtained polyethylene. There is a noticeable increment in catalytic activity when the amount of Ti(OBu)4 in the reactor increases and 1‐butene can be incorporated by about 6.51 mol % in the backbone of polyethylene chains at the highest Ti(OBu)4 concentration in the feed. The molecular weights (Mw), melting points, and crystallinity of the LLDPE descend as the amount of Ti(OBu)4 decreases, which is attributed mainly to chain termination and high branching degree, while the molecular weight distribution remains within a narrow range as in the case of metallocene catalysts. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 94: 2451–2455, 2004
Preparation of antimicrobial sutures by preirradiation grafting of acrylonitrile onto polypropylene monofilament. III. Hydrolysis of the grafted suture
Authors: Gupta Bhuvanesh , Jain Rachna , Anjum Nishat , Singh Harpal 
Published: November 2004

AbstractPolypropylene‐grafted‐polyacrylonitrile (PP‐g‐PAN) sutures were prepared by graft polymerization of acrylonitrile onto polypropylene (PP) monofilament using a preirradiation method. The grafted PP monofilaments were subsequently hydrolyzed to introduce carboxyl groups for antimicrobial drug immobilization. The maximum conversion of nitrile groups into carboxyl groups was limited to about 62% and produced sutures with carboxyl content ranging from 0.042 to 0.25 mmol/g. The physical characteristics of sutures were evaluated by FTIR, X‐ray diffraction, differential scanning calorimetry, and X‐ray photoelectron spectroscopy. In general, the hydrolysis did not cause any significant variation in crystalline structure. The mechanical strength was affected in all the grafted sutures. The tensile strength of sutures was investigated as a function of the degree of grafting. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 94: 2509–2516, 2004
Stress–strain behavior of blends of bacterial polyhydroxybutyrate
Authors: El‐Taweel S. H. , Stoll B. , Höhne G. W. H. , Mansour A. A. , Seliger H. 
Published: November 2004

AbstractA series of blends of bacterial poly(R‐hydroxybutyrate) (PHB), with different miscible amorphous components, were prepared. The molecular mass of the amorphous components was varied from Mn ≈ 600 to 200,000 g/mol. Several factors were found to influence the stress–strain behavior of PHB blends: the glass‐transition temperature, the average molecular mass of amorphous phase, the content of PHB in the blend, the crystallinity, and the drawing temperature. It was found that a high extension ratio at rupture λR > 3 is obtained only if the PHB content is less than 60% (crystallinity Xc < 0.4), although this holds only for blends of bacterial PHB with a high molecular mass (Mn > 30,000) amorphous component. The lowering of glass‐transition temperature by the addition of low molecular mass additives (plasticizers) deteriorates the tensile properties. Measurements at elevated temperatures of ductile blends yielded a marked decrease of both stress at rupture σR and extension ratio at rupture λR. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 94: 2528–2537, 2004
Polyamide 6/ethylene‐butylene elastomer blends generated via anionic polymerization of ε‐caprolactam: Phase morphology and dynamic mechanical behavior
Authors: Omonov T. S. , Harrats C. , Moussaif N. , Groeninckx G. , Sadykov Sh. G. , Ashurov N. R. 
Published: November 2004

AbstractThis paper reports about the polymerization of ε‐caprolactam monomer in the presence of low molecular weight hydroxyl or isocyanate end‐capped ethylene‐butylene elastomer (EB) elastomers as a new concept for the development of a submicron phase morphology in polyamide 6 (PA6)/EB blends. The phase morphology, viscoelastic behavior, and impact strength of the polymerization‐designed blends are compared to those of similar blends prepared via melt‐extrusion of PA6 homopolymer and EB elastomer. Polyamide 6 and EB elastomer were compatibilized using a premade triblock copolymer PA6‐b‐EB‐b‐PA6 or a pure EB‐b‐PA6 diblock reactively generated during melt‐blending (extrusion‐prepared blends) or built‐up via anionic polymerization of ε‐caprolactam on initiating NCO groups attached to EB chain ends (polymerization‐prepared blends). Two compatibilization approaches were considered for the polymerization‐prepared blends: (i) the addition of a premade PA6‐b‐EB‐b‐PA6 triblock copolymer to the ε‐caprolactam monomer containing nonreactive EBOH elastomer and (ii) generation in situ of a PA6‐b‐EB diblock using EBNCO precursor on which polyamide 6 blocks are built‐up via anionic polymerization of ε‐caprolactam. The noncompatibilized blends exhibit a coarse phase morphology, either in the extruded or the polymerization prepared blends. Addition of premade triblock copolymer (PA6‐b‐EB‐b‐PA6) to a EBOH /ε‐caprolactam dispersion led to a fine EB phase (0.14 μm) in the PA6 matrix after ε‐caprolactam polymerization. The average particle size of the in situ reactively compatibilized polymerization‐prepared blend is about 1 μm. The notched Izod impact strength of the blend compatibilized with premade triblock copolymer was much higher than that of the neat PA6, the noncompatibilized, and the in situ reactively compatibilized polymerization blends. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 94: 2538–2544, 2004
Electrical and magnetic response of archaeological features at the early neolithic site of Movila lui Deciov, western Romania
Authors: Maillol J. M. , Ciobotaru D. L. , Moravetz I. 
Published: November 2004

AbstractAn archaeological geophysics survey was conducted on the early neolithic site of Movila lui Deciov, in the Province of Banat, Romania. Magnetometry and electromagnetic terrain conductivity were used for the main prospection effort, and a test of electrical resistivity imaging was conducted on a selected profile. In addition, magnetic susceptibility measurements were obtained from excavation pit samples.The magnetic survey was successful in determining the extent of the site, in delimiting zones rich in structures and artefacts, and in confirming the presence of a ditched enclosure that could be the earliest known in the region. The electromagnetic survey was limited by a lack of resolution of electrical property contrast. Detailed joint modelling of the magnetic and electrical response of the subsurface was used to confirm that electrical resistivity imaging can provide depth information to complement magnetic mapping.One of very few reported in Romania, this survey paves the way for an increased use of geophysical techniques in the cultural heritage management of this country. From a methodological viewpoint, this work further demonstrates the potential of electrical resistivity imaging in archaeology Copyright © 2004 John Wiley & Sons, Ltd.