bluuebunny/crossref_metadata_2025_split huggingface dataset:
FH clinical phenotype in Greek patients with LDL‐R defective vs. negative mutations
Authors: Dedoussis G. V. Z. , Skoumas J. , Pitsavos C. , Choumerianou D. M. , Genschel J. , Schmidt H. , Stefanadis C. 
Published: December 2004

AbstractBackground  Familial hypercholesterolaemia (FH) is caused by mutations in the low‐density lipoprotein receptor gene and the gene encoding apolipoprotein B‐100, affecting one in 500 individuals.Methods  One hundred and eighty‐three Greek FH patients were screened for mutations on the LDLR and ApoB genes.Results  We identified mutations in 67 probands and 11 relatives. Sixteen mutations located in eight different exons and the promoter of the LDLR were discovered. Among them 10 were missense mutations (C6W, S265R, A370T, Q363P, D365E, V408M, A410T, A517T, G528D, G571E), two were nonsense mutations (Q363X and C660X), three were splice defects (2140 + 5G→A and 2140 + 9C→T, 1706 – 10G→A), and one was a nucleotide substitution (− 45delT) on the promoter. None of the subjects carried any apoB mutation. The detection rate of mutations in this study was 43%. From the above mutations, A410T, A519T and the splice site defects 2140 + 9C→T were detected for the first time in the Greek population. Among them V408M, G528D, C6W and S265R account for 73% of heterozygous FH probands. V408M mutation is more common in Central West, while C6W is more common in Central East. Separating the patients into two groups (receptor defective and receptor negative) we found that the receptor negative group had higher levels of total cholesterol, low‐density lipoprotein cholesterol and higher prevalence of tendon xanthomas compared with the receptor‐defective group.Discussion  The homogenous molecular basis of familial hypercholesterolaemia in Greece facilitates the application of a DNA diagnostic strategy based on the origin of the patient. The early mutation analysis would add valuable information on the severity of the disease.
Enhanced external counterpulsation improves skin oxygenation and perfusion
Authors: Hilz M. J. , Werner D. , Marthol H. , Flachskampf F. A. , Daniel W. G. 
Published: December 2004

AbstractBackground Enhanced external counterpulsation (EECP) augments diastolic and reduces systolic blood pressures. Enhanced external counterpulsation has been shown to improve blood flow in various organ systems. Beneficial effects on skin perfusion might allow EECP to be used in patients with skin malperfusion problems. This study was performed to assess acute effects of EECP on superficial skin blood flow, transdermal oxygen and carbon dioxide pressures.Materials and methods We monitored heart rate, blood pressure, transdermal blood flow as well as oxygen and carbon dioxide pressures in 23 young, healthy persons (28 ± 4 years) and 15 older patients (64 ± 7 years) with coronary artery disease before, during and 3 min after 5 min EECP. Friedman test was used to compare the results of 90‐s epochs before, during and after EECP. Significance was set atP < 0·05.Results Enhanced external counterpulsation increased heart rate and mean blood pressure. During EECP, transdermal oxygen pressure and concentration of moving blood cells increased while transdermal carbon dioxide pressure and velocity of moving blood cells decreased significantly in both groups. After EECP, transdermal carbon dioxide pressure was still reduced while the other parameters returned to baseline values.Conclusions Improved skin oxygenation and carbon dioxide clearance during EECP seem to result from the increased concentration and reduced flow velocity, i.e. prolonged contact time, of erythrocytes. The increased concentration of moving blood cells and the decreased velocity of moving blood cells at both tested skin sites indicate peripheral vasodilatation.
Methylene blue attenuates lung injury after mesenteric artery clamping/unclamping
Authors: Weinbroum A. A. 
Published: December 2004

AbstractBackground  This controlled, experimental study was designed to assess the effects of intratracheal and intravenous methylene blue on reperfusion lung injury following superior mesenteric artery clamping/unclamping.Materials and methods  Superior mesenteric arteries of 144 anaesthetized adult male Wistar rats (n = 12/group) were clamped for 1 h. Ten minutes before unclamping, methylene blue or its vehicle was administered intratracheally or intravenously, followed by a 3 h‐respiratory assessment and postexperimental assessment of survival.Results  Intravenous 3 and 9 mg kg−1 but not higher methylene blue doses, and intratracheal 6‐mg kg−1 but not lower doses, significantly (P < 0·05) reduced the 100% increase in plateau pressure, 30% reduction in PO2/FiO2, fourfold augmented bronchoalveolar lavage‐retrieved volume and the increased polymorphonuclear leukocytes/bronchoalveolar cells’ ratio associated with unclamping of the superior mesenteric artery. Lung tissue polymorphonuclear leukocytes count, total xanthine oxidase activity and wet‐to‐dry‐weight ratio were also normal in these dose‐treated groups. These effective regimens were also associated with longer animal survival.Conclusions  Intratracheal methylene blue mitigates lung reperfusion injury following superior mesenteric artery clamping/unclamping at a similar magnitude as an intravenous regimen. This finding is a novel potential use of methylene blue in vivo.
Gene flow between populations of two invertebrates in springs
Authors: Brändle Martin , Westermann Ilka , Brandl Roland 
Published: December 2004

Summary1. Using allozymes, we analysed genetic structure of the freshwater gastropodBythinella dunkeriand the freshwater flatwormCrenobia alpina. The two species are habitat specialists, living almost exclusively in springs. The sampled area in Hesse (Germany) covers a spatial scale of 20 km and includes two river drainages. From the biology of the two species we expected little dispersal along rivers. However, the possibility exists that groundwater provide suitable pathways for dispersal.2. InB. dunkeriheterozygosity decreased from west to east. For some alleles we found clines in this geographic direction. These clines generated a positive correlation between geographic distance and genetic differentiation. Furthermore patterns of genetic variation within populations suggested that populations may have been faced with bottlenecks and founder effects. If populations are not in population genetic equilibrium, such founder effects would also explain the rather high amount of genetic differentiation between populations (10%).3. ForC. alpinathe mean number of alleles decreased with increasing isolation of populations. Genetic differentiation between populations contributed 19% to the total genetic variation. Genetic differentiation was not correlated to geographic distance, but compared withB. dunkerivariability of pairwise differentiation between pairs of populations was higher inC. alpina.4. OverallB. dunkeriappears to be a fairly good disperser, which may use groundwater as dispersal pathway. Furthermore populations seem to be not in equilibrium. In contrastC. alpinaforms rather isolated populations with little dispersal between springs and groundwater seems to play no important role for dispersal.
Are alien fish a reliable indicator of river health?
Authors: Kennard M. J. , Arthington A. H. , Pusey B. J. , Harch B. D. 
Published: December 2004

Summary1. The ability of many introduced fish species to thrive in degraded aquatic habitats and their potential to impact on aquatic ecosystem structure and function suggest that introduced fish may represent both a symptom and a cause of decline in river health and the integrity of native aquatic communities.2. The varying sensitivities of many commonly introduced fish species to degraded stream conditions, the mechanism and reason for their introduction and the differential susceptibility of local stream habitats to invasion because of the environmental and biological characteristics of the receiving water body, are all confounding factors that may obscure the interpretation of patterns of introduced fish species distribution and abundance and therefore their reliability as indicators of river health.3. In the present study, we address the question of whether alien fish (i.e. those species introduced from other countries) are a reliable indicator of the health of streams and rivers in south‐eastern Queensland, Australia. We examine the relationships of alien fish species distributions and indices of abundance and biomass with the natural environmental features, the biotic characteristics of the local native fish assemblages and indicators of anthropogenic disturbance at a large number of sites subject to varying sources and intensities of human impact.4. Alien fish species were found to be widespread and often abundant in south‐eastern Queensland rivers and streams, and the five species collected were considered to be relatively tolerant to river degradation, making them good candidate indicators of river health. Variation in alien species indices was unrelated to the size of the study sites, the sampling effort expended or natural environmental gradients. The biological resistance of the native fish fauna was not concluded to be an important factor mediating invasion success by alien species. Variation in alien fish indices was, however, strongly related to indicators of disturbance intensity describing local in‐stream habitat and riparian degradation, water quality and surrounding land use, particularly the amount of urban development in the catchment.5. Potential confounding factors that may influence the likelihood of introduction and successful establishment of an alien species and the implications of these factors for river bioassessment are discussed. We conclude that the potentially strong impact that many alien fish species can have on the biological integrity of natural aquatic ecosystems, together with their potential to be used as an initial basis to find out other forms of human disturbance impacts, suggest that some alien species (particularly species from the family Poeciliidae) can represent a reliable ‘first cut’ indicator of river health.
Aquatic plants are open flexible structures – a reply to Sukhodolov
Authors: Sand‐Jensen Kaj 
Published: December 2004

Summary1. Aquatic plant stands are flexible, mesh‐like open structures that undergo modification in shape and experience a cascade of declining flow velocities and micro‐scale Reynolds numbers with increasing distance into the stands. It is not possible to define or measure the frontal area of this open flexible plant structure. Total wetted area was used as a reference area for drag because it can be measured with high accuracy and it was the most suitable measure of plant size impeding the flow and absorbing light for photosynthetic production. What is important is that it is made absolutely clear which type of reference area that is used.2. Numerous important relationships in biology are open to discussion because of differences in dimensions between variables. Relating dimensionless drag coefficients to dimensionless Reynolds numbers resolve such discussions, but defining Reynolds numbers cause other problems. Relating drag coefficients to macro‐scale Reynolds numbers would result in exactly the same form of relationship as to water velocity because macro‐scale Reynolds numbers changed in direct proportion to water velocity in the experiments, while kinematic viscosity and characteristic length within species remained constant.
Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children
Authors: Descheemaeker M.‐J. , Ghesquière P. , Symons H. , Fryns J. P. , Legius E. 
Published: December 2004

AbstractIn the present study the neuropsychological, academic and social‐emotional profiles were examined in Neurofibromatosis type 1 (NF1) childrenSubjects  17 NF1 children (ages 7–11) with NF1 without serious medical problems and with a full scale IQ (FSIQ) above 70.Methods  Wechsler Intelligence Scale for Children‐Revised (WISC‐R), academic tests and an exhaustive neuropsychological test battery were administered in all children. Parents and teachers filled out the Child Behavioural Checklist (CBCL) and Teacher Report Form (TRF), respectively, the NF1 children the Experienced Competence Scale for Children (ECSC).Results and discussion  Nearly 50% (8/17) of the children showed learning disabilities, when corrected for IQ in the academic evaluations. Isolated impaired literacy skills, particularly spelling problems, were most frequent (4/8), whereas a pure arithmetic learning disability was rare (1/8). Three children presented both learning disabilities. Results on academic and neuropsychological tests did not fit the well‐known types of learning disabilities – nonverbal learning disability (NLD) and dyslexia. Nearly all NF1 children showed visual perceptual and executive dysfunctions. In this study, teachers more frequently reported behavioural problems in NF1 children than parents, as opposed to literature data in a general population. The correspondence of the perception of internalizing problems between the children and teachers was greater than between children and their parents. No correlation was found between the performances on the WISC‐R, specific neuropsychological results, academic performances and behavioural problems. The Deficiency in Attention, Motor and Perception (DAMP) concept seems most appropriate in order to describe the neuropsychological deficits and their repercussions on behavioural and academic performances seen in NF1 children.
Catatonia in autism: a distinct subtype?
Authors: Ghaziuddin M. , Quinlan P. , Ghaziuddin N. 
Published: December 2004

AbstractCatatonia is a life‐threatening disorder characterized by motor abnormalities, mutism, and disturbances of behaviour, which is increasingly being diagnosed in persons with autism. In this report, we describe the presentation and course of catatonia in an adolescent with autism who responded to electroconvulsive therapy (ECT). The illness started with depressive symptoms, but the predominant feature was one of extreme obsessive slowing and immobility. We propose that catatonia should be ruled out as a cause of regression sometimes seen in adolescents with autism, and that catatonia of autism may index a distinct subtype with a particularly poor outcome.
A detailed look at 7 million years of genome evolution in a 439 kb contiguous sequence at the barley Hv‐eIF4E locus: recombination, rearrangements and repeats
Authors: Wicker Thomas , Zimmermann Wolfgang , Perovic Dragan , Paterson Andrew H. , Ganal Martin , Graner Andreas , Stein Nils 
Published: December 2004

SummarySix overlapping BAC clones covering the Hv‐eIF4E gene region in barley were sequenced in their entire length, resulting in a 439.7 kb contiguous sequence. The contig contains only two genes, Hv‐eIF4E and Hv‐MLL, which are located in a small gene island and more than 88% of the sequence is composed of transposable elements. A detailed analysis of the repetitive component revealed that this chromosomal region was affected by multiple major duplication and deletion events as well as the insertion of numerous transposable elements, resulting in a complete reshuffling of genomic DNA. Resolving this highly complex pattern resulted in a model unraveling evolutionary events that shaped this region over an estimated 7 million years. Duplications and deletions caused by illegitimate recombination and unequal crossing over were major driving forces in the evolution of the Hv‐eIF4E region, equaling or exceeding the effects of transposable element activities. In addition to a dramatic reshuffling of the repetitive portion of the sequence, we also found evidence for important contributions of illegitimate recombination and transposable elements to the sequence organization of the gene island containing Hv‐eIF4E and Hv‐MLL.
Immunomodulation of function of small heat shock proteins prevents their assembly into heat stress granules and results in cell death at sublethal temperatures
Authors: Miroshnichenko Sergey , Tripp Joanna , Nieden Uta zur , Neumann Dieter , Conrad Udo , Manteuffel Renate 
Published: December 2004

SummaryThe conformational dynamism and aggregate state of small heat shock proteins (sHSPs) may be crucial for their functions in thermoprotection of plant cells from the detrimental effects of heat stress. Ectopic expression of single chain fragment variable (scFv) antibodies against cytosolic sHSPs was used as new tool to generate sHSP loss‐of‐function mutants by antibody‐mediated prevention of the sHSP assembly in vivo. Anti‐sHSP scFv antibodies transiently expressed in heat‐stressed tobacco protoplasts were not only able to recognize the endogenous sHSPs but also prevented their assembly into heat stress granula (HSGs). Constitutive expression of the same scFv antibodies in transgenic plants did not alter their phenotype at normal growth temperatures, but their leaves turned yellow and died after prolonged stress at sublethal temperatures. Structural analysis revealed a regular cytosolic distribution of stress‐induced sHSPs in mesophyll cells of stress‐treated transgenic plants, whereas extensive formation of HSGs was observed in control cells. After prolonged stress at sublethal temperatures, mesophyll cells of transgenic plants suffered destruction of all cellular membranes and finally underwent cell death. In contrast, mesophyll cells of the stressed controls showed HSG disintegration accompanied by appearance of polysomes, dictyosomes and rough endoplasmic reticulum indicating normalization of cell functions. Apparently, the ability of sHSPs to assemble into HSGs as well as the HSG disintegration is a prerequisite for survival of plant cells under continuous stress conditions at sublethal temperatures.
Genome‐wide analysis of glucose‐6‐phosphate dehydrogenases in Arabidopsis
Authors: Wakao Setsuko , Benning Christoph 
Published: December 2004

SummaryIn green tissues of plants under illumination, photosynthesis is the primary source of reduced nicotinamide adenine dinucleotide phosphate (NADPH), which is utilized in reductive reactions such as carbon fixation and nitrogen assimilation. In non‐photosynthetic tissues or under non‐photosynthetic conditions, the oxidative pentose phosphate pathway contributes to basic metabolism as one of the major sources of NADPH. The first and committed reaction is catalyzed by glucose‐6‐phosphate dehydrogenase (G6PDH). We characterized the six members of the G6PDH gene family in Arabidopsis. Transit peptide analysis predicted two cytosolic and four plastidic isoforms. Five of the six genes encode active G6PDHs. The recombinant isoforms showed differences in substrate requirements and sensitivities to feedback inhibition. Plastidic isoforms were redox sensitive. One cytosolic isoform was insensitive to redox changes, while the other was inactivated by oxidation. The respective genes had distinct expression patterns that did not correlate with the activity of the proteins, implying a regulatory mechanism beyond the control of mRNA abundance. Two cytosolic and one plastidic isoform were detected in vivo using zymograms, and the respective genes were identified using T‐DNA insertion lines. The activity of a plastidic isoform was detected in all tissues including photosynthetic tissues despite its sensitivity to reduction observed in vitro. Genomic data, gene expression, and in vivo enzyme activity data were integrated with in vitro biochemical data to propose in vivo roles for individual G6PDH isoforms in Arabidopsis.
Identification and characterization of a new conserved motif within the presequence of proteins targeted into complex diatom plastids
Authors: Kilian Oliver , Kroth Peter G. 
Published: December 2004

SummarySeveral groups of algae evolved by secondary endocytobiosis, which is defined as the uptake of a eukaryotic alga into a eukaryotic host cell and the subsequent transformation of the endosymbiont into an organelle. Due to this explicit evolutionary history such algae possess plastids that are surrounded by either three or four membranes. Protein targeting into plastids of these organisms depends on N‐terminal bipartite presequences consisting of a signal and a transit peptide domain. This suggests that different protein targeting systems may have been combined during establishment of secondary endocytobiosis to enable the transport of proteins into the plastids. Here we demonstrate the presence of an apparently new type of transport into diatom plastids. We analyzed protein targeting into the plastids of diatoms and identified a conserved amino acid sequence motif within plastid preprotein targeting sequences. We expressed several diatom plastid presequence:GFP fusion proteins with or without modifications within that motif in the diatom Phaeodactylum tricornutum and found that a single conserved phenylalanine is crucial for protein transport into the diatom plastids in vivo, thus indicating the presence of a so far unknown new type of targeting signal. We also provide experimental data about the minimal requirements of a diatom plastid targeting presequence and demonstrate that the signal peptides of plastid preproteins and of endoplasmic reticulum‐targeted preproteins in diatoms are functionally equivalent. Furthermore we show that treatment of the cells with Brefeldin A arrests protein transport into the diatom plastids suggesting that a vesicular transport step within the plastid membranes may occur.
Impact of in vivo complement activation and cryoglobulins on graft outcome of HCV‐infected renal allograft recipients
Authors: Weiner Stefan M , Thiel Jens , Berg Thomas , Weber Sabine , Krumme Bernd , Peter Hans H , Rump Lars C , Grotz Wolfgang H 
Published: December 2004

Abstract:  Background:  Chronic hepatitis C virus (HCV) infection is closely associated with mixed cryoglobulinemia. Cryoglobulins can activate complement leading to vascular damage. We examined whether cryoglobulinemia and complement turnover is associated with HCV infection in renal transplant recipients and whether this has an adverse effect on graft outcome.Methods:  Sera and fresh plasma from 31 HCV‐RNA‐positive patients after renal transplantation (group I) were studied for cryoglobulins, complement hemolytic activity (CH50), and complement split product C3d. In total, 80 HCV‐negative renal transplant recipients (group II) and 72 untreated patients with chronic hepatitis C (group III) without renal transplantation served as controls.Results:  Cryoglobulins were detected in 45, 28, and 26% of the patients in group I, II, and III, respectively. A high cryocrit (>5%) was present only in patients of group III (p < 0.01%). Mean CH50 values were lower and C3d levels higher in HCV‐positive patients (group I and III) compared with HCV‐negative patients (p < 0.0001). Cryoglobulins were not associated with extrahepatic manifestations or graft dysfunction, except in five patients of group III demonstrating cryoglobulinemic vasculitis. HCV‐positive renal transplant recipients with signs of complement activation showed a significantly greater increase of serum creatinine (0.88 ± 1.14 mg/dL) when compared with baseline than patients without complement activation (0.34 ± 0.37 mg/dL; p = 0.035). There was also a tendency toward a higher extent of proteinuria in patients with complement activation (1.38 ± 2.17 g/d vs. 0.50 ± 0.77 g/d; p = 0.25, NS).Conclusions:  Cryoglobulins are common in renal allograft recipients, but do not affect graft function. However, complement activation appears to be involved in chronic allograft dysfunction in HCV‐infected recipients.