bluuebunny/crossref_metadata_2025 huggingface dataset:
Back to the St. Petersburg Paradox?
Authors: Blavatskyy Pavlo R.
Published: May 2005

The conventional parameterizations of cumulative prospect theory do not explain the St. Petersburg paradox. To do so, the power coefficient of an individual’s utility function must be lower than the power coefficient of an individual’s probability weighting function.
Risk transfer and the UK Private Finance Initiative: a theoretical analysis
Authors: Lonsdale Chris
Published: May 2005

English

The UK's Private Finance Initiative (PFI) closely resembles the bilateral contracting mechanism advanced by transaction cost economics (TCE). However, the principles informing both the PFI and TCE generally are seriously flawed. In particular, TCE does not accommodate the concept of power, makes incorrect assumptions about the capabilities of organisational buying functions and lacks an appreciation of the political nature of organisational decision making. The impact of these flaws can be recognised in many PFI projects and can help explain why on so many occasions risk has not been transferred to private sector suppliers.
The Evidence of ‘Unavailable’ Witnesses under the Criminal Justice Act 2003
Authors: Durston Gregory
Published: May 2005

Section 116 of the Criminal Justice Act 2003 extends the circumstances in which statements made by witnesses who are unavailable to give evidence at court can be received. Such statements are no longer limited to those made in writing, and now also encompass those that constitute multiple hearsay. Additionally, for most first-hand hearsay statements, there is no longer a general discretion to prevent adduction, unlike the equivalent provision in s. 23 of the Criminal Justice Act 1988. Although some safeguards have been put in place—such as a need to identify the maker of such statements before they can be admitted—there is uncertainty as to how these will operate and how effectively they will prevent the fabrication of evidence as well as excessive delay in the trial process.
Expressed genome molecular signatures of heart failure
Authors: Liew Choong Chin
Published: May 2005

Traditional gene expression studies typically focus on one or a few genes of interest. An important limitation of single-gene studies is that they present a portrait of disease that is essentially static. However, disease is a dynamic process, driven by a combination of genetic, epigenetic and environmental factors. Recently, genomic technologies have permitted better characterization of the dynamic aspect of disease progression. Genome-wide expression profiles of cardiovascular diseases, heart failure in particular, using microarrays have been published and are providing new insights into this complex disease. Tissue biopsies required for traditional microarray studies, however, are often invasive and not readily available. By contrast, blood samples are relatively non-invasive and are readily available. In a number of recent studies, blood cells appear to be a viable substitute for tissue biopsy. Blood cells have the ability to mirror the body's tissues and organs in health and disease; thus, we hypothesize that blood cells can indicate at the molecular level the presence of disease. Here we review microarray gene expression profiling of blood RNA for a number of different diseases. Sieving through gene expression molecular signatures has identified groups of genes characteristic of each and has identified biomarkers associated with specific diseases.
Understanding hyperlipidemia and atherosclerosis: lessons from genetically modified apoe and ldlr mice
Authors: Wouters Kristiaan , Shiri-Sverdlov Ronit , van Gorp Patrick J. , van Bilsen Marc , Hofker Marten H.
Published: May 2005

Hyperlipidemia is the most important risk factor for atherosclerosis, which is the major cause of cardiovascular disease. The etiology of hyperlipidemia and atherosclerosis is complex and governed by multiple interacting genes. However, mutations in two genes have been shown to be directly involved, i.e., the low-density lipoprotein receptor (LDLR) and apolipoprotein E (ApoE). Genetically modified mouse models have been instrumental in elucidating the underlying molecular mechanisms in lipid metabolism. In this review, we focus on the use of two of the most widely used mouse models, ApoE- and LDLR-deficient mice. After almost a decade of applications, it is clear that each model has unique strengths and drawbacks when carrying out studies of the role of additional genes and environmental factors such as nutrition and lipid-lowering drugs. Importantly, we elaborate on mice expressing mutant forms of APOE, including the
β-Carotene stimulates chemotaxis of human endothelial progenitor cells
Authors: Kieć-Wilk Beata , Polus Anna , Grzybowska Joanna , Mikołajczyk Magdalena , Hartwich Jadwiga , Pryjma Juliusz , Skrzeczyńska Joanna , Dembińska-Kieć Aldona
Published: May 2005

Angiogenesis is a crucial process in tissue remodeling during growth, both in the embryo and the adult. In our study we concentrated on the direct effect of β-carotene on human umbilical cord originating from endothelial progenitor cells (EPCs). β-Carotene uptake by EPCs was measured using a HPLC method. The determination of cell surface antigens was performed by flow cytometry. The effect on cell proliferation was estimated by measuring bromo-deoxyuridine incorporation. The influence on the formation of a tubular-like structure was investigated in a 3D assay in matrigel. Quantitative gene expression was estimated using real-time PCR. We demonstrated that β-carotene in the physiological range of concentrations found in human blood is a potent activator of EPC chemotaxis, which is accompanied by a change in the expression of genes mediating cell adhesion and homing, but does not activate the final markers of endothelial differentiation. This study points to the prochemotactic and homing activity of β-carotene in undifferentiated endothelial cell progenitors for the first time, which may suggest a potential role of this carotenoid in progenitor cell therapy aimed at angiogenesis and tissue repair.
Effect of interferon-γ, interleukin-10, lipopolysaccharide and tumor necrosis factor-α on chitotriosidase synthesis in human macrophages
Authors: Di Rosa Michelino , Musumeci Maria , Scuto Anna , Musumeci Salvatore , Malaguarnera Lucia
Published: May 2005

Human chitotriosidase is a chitinolytic enzyme and mainly produced by activated macrophages. Recently, we observed that prolactin, which is structurally related to several cytokines and is involved in regulating monocyte/macrophage functions, upregulates chitotriosidase gene expression in human macrophages, suggesting that chitotriosidase is not only a biochemical marker of macrophage activation in lysosomal diseases and hematological disorders, but also may reflect induction of an immunological response. To confirm this hypothesis we evaluated by quantitative real-time PCR the mRNA chitotriosidase levels in human monocytes/macrophages following treatment with pro-inflammatory stimuli such as interferon-γ, tumor necrosis factor-α, lipopolysaccharide, and interleukin-10, an anti-inflammatory cytokine. Stimulation of macrophages with interferon-γ, tumor necrosis factor-α and lipopolysaccharide resulted in increased levels of chitotriosidase mRNA, as well as chitotriosidase activity, whereas interleukin-10 decreased chitotriosidase synthesis. This finding is consistent with the hypothesis that the production of chitotriosidase by macrophages could have biological relevance in the immune response.
Two immunochemical assays to measure advanced glycation end-products in serum from dialysis patients
Authors: Zhang Xiaohong , Frischmann Matthias , Kientsch-Engel Rose , Steinmann Katharina , Stopper Helga , Niwa Toshimitsu , Pischetsrieder Monika
Published: May 2005

Advanced glycation end-products are uremic toxins that accumulate in the serum and tissues of patients with chronic renal failure. Here, we established two enzyme-linked immunosorbent assays (ELISAs) for N
Apolipoprotein E haplotyping by denaturing high-performance liquid chromatography
Authors: Poli Maura , Gatta Luisa Benerini , Dominici Roberto , Lovati Carlo , Mariani Claudio , Albertini Alberto , Finazzi Dario
Published: May 2005

The apolipoprotein E (
Both core and terminal glycosylation alter epitope expression in thyrotropin and introduce discordances in hormone measurements
Authors: Donadio Sandrine , Morelle Willy , Pascual Aurélie , Romi-Lebrun Régine , Michalski Jean-Claude , Ronin Catherine
Published: May 2005

Thyroid-stimulating hormone (TSH) is routinely measured in blood to diagnose thyroid disorders using immunoassays. This study used recombinant TSH (recTSH) as a source of hormonal compound exhibiting a serum-type glycosylation and putatively reflecting physiopathological alterations in TSH polymorphism. Mass spectrometry revealed that in recTSH, both subunits display high-molecular-size glycoforms compared to the pituitary hormone (pitTSH), indicating more complex glycosylation. To determine how changes in TSH glycosylation may affect epitope expression, comparative epitope mapping of rec- and pitTSH was carried out using a panel of ten hormone-specific monoclonal antibodies. Three common epitopes, I, II and III, were identified as common to both preparations and allowed the design of six assays as I/II, II/I, I/III, III/I, II/III, and III/II. Highly sialylated recTSHs were produced by enzymatic remodeling to mimic the hormone circulating in blood and revealed limited expression of epitope I, but enhanced recognition of epitope II. Fractionation on a lentil lectin-Sepharose column allowed selection of non-fucosylated recTSH, thought to be associated with primary hypothyroidism. Recognition of epitope I was not modified by TSH core fucosylation, while epitope III expression was increased in non-fucosylated glycoforms. Taken together, our findings demonstrate that changes in both core and terminal glycosylation alter epitope expression in TSH and thereby induce highly variable antibody recognition, resulting in significant discordances among hormone measurements.
Do we measure bilirubin correctly anno 2005?
Authors: Apperloo Joke J. , van der Graaf Fedde , Scharnhorst Volkher , Vader Huib L.
Published: May 2005

We observed 30% discrepancy between liquid chemistry and dry chemistry analysers for the determination of total bilirubin in human adult serum samples, which were consistent with a 20% overestimation and 10% underestimation relative to a Jendrassik-Grof reference method, respectively. In contrast, standard reference material SRM916, which was recently recommended as being the most suitable material for attaining interlaboratory agreement, shows very good agreement on both types of analysers, as well as close to 100% recovery with respect to the reference method. We show that the liquid vs. dry bilirubin discrepancies seem to originate in the presence of either conjugated or δ-bilirubin. Our observations make it clear that good interlaboratory (or inter-analyser) agreement between bilirubin reference materials does not guarantee the same for bilirubin concentrations in human serum samples.
Differences in mortality on the basis of laboratory parameters in an unselected population at the Emergency Department
Authors: Vroonhof Karen , van Solinge Wouter W. , Rovers Maroeska M. , Huisman Albert
Published: May 2005

The objective of this study was to relate multiple laboratory results of initial blood gas analysis in patients visiting the emergency department to mortality. A total of 1806 adult patients visiting the emergency department for any reason, who underwent blood gas analysis, were included in this study. The results of nine laboratory parameters (ionised calcium, potassium, sodium, glucose, lactate, pH, pCO
An Italian program of external quality control for quantitative assays based on real-time PCR with Taq-Man™ probes
Authors: Raggi Claudia Casini , Verderio Paolo , Pazzagli Mario , Marubini Ettore , Simi Lisa , Pinzani Pamela , Paradiso Angelo , Orlando Claudio
Published: May 2005

Quantitative real-time PCR techniques are increasingly being used for the measurement of nucleic acids in research applications as well as in the clinical laboratory. It is therefore important that external quality control programs (EQA) are implemented for the evaluation of the analytical aspects common to molecular tests based on quantitative PCR. The aim of this study was the development of an Italian program of external quality control for quantitative assays based on real-time PCR with Taq-Man™ probes to compare the analytical performance of 42 laboratories. Participants were provided with a set of reagents (cDNA for reference curve preparation, primers-probe mix and three unknown samples) and requested to perform a conventional assay using the master mix employed in their laboratories. The quantitative results in unknown samples were analyzed. The results of our study showed clear heterogeneity in performance. Two of the 42 laboratories provided results indicating contamination during the experiment, whereas six did not provide values for at least one of the six standard points. Only 12 laboratories gave results that were both precise and accurate for all the samples tested. Regarding imprecision, 17 laboratories appeared to deviate in at least one result, whereas inaccuracy showed an inverse dose-dependent trend. Finally, 12 laboratories were not able to measure the sample with the lowest concentration. Ten of these laboratories were equipped with the same instruments. The results of this first round of analytical EQA of real-time PCR-based methods seem to indicate high variability among laboratories carrying out the same experimental protocol. These findings could have implications for any assay based on this type of technique. This survey demonstrates the importance of experimental EQAs of methodological proficiency testing. Our approach has proved useful for comparing the analytical aspects shared by all diagnostic laboratories applying quantitative assays for the measurement of nucleic acids based on the use of Taq-Man™ probes and real-time platforms.
A reference material for traceability of aspartate aminotransferase (AST) results
Authors: Férard Georges , Imbert-Bismut Françoise , Messous Djamila , Piton Annie , Ueda Shigeru , Poynard Thierry , Lessinger Jean-Marc
Published: May 2005

Standardization of aspartate aminotransferase (AST) determination is highly desirable for inter-laboratory comparison. Serum AST mean values for 20 patients suffering from viral hepatitis showed an inter-laboratory (n=13) variation of 9.4%. Part of this variation was due to two laboratories using procedures without pyridoxal-5′-phosphate. A traceable AST value was assigned to an enzyme calibrator (EC) through the appropriate International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) primary reference procedure. The EC was commutable for seven routine methods. Common calibration using the EC reduced the inter-laboratory coefficient of variation (CV=5.9%
Harmonization of the Bayer ADVIA Centaur and Abbott AxSYM automated B-type natriuretic peptide assay in patients on hemodialysis
Authors: Barak Mira , Weinberger Ronit , Marcusohn Jerom , Froom Paul
Published: May 2005

There are two fully automated high-throughput clinical instruments for brain natriuretic peptide (BNP) assays, the Bayer ADVIA Centaur assay, and the Abbott AxSYM assay. Although both recommend a cut-off value of 100pg/mL, we are unaware of previous studies that have compared the unadjusted results of the two methods, required for proper evaluation of patients undergoing this test on different platforms. From 43 hemodialysis patients, 80 paired samples were collected by venipuncture into plastic evacuated tubes containing EDTA. The Bayer assay yielded lower values than the Abbott assay, with linear regression of 0.53×Abbott assay (95% confidence interval, 0.50–0.56) being forced through 0, demonstrating an r
Multicenter evaluation of the analytical and clinical performance of the Elecsys ® S100 immunoassay in patients with malignant melanoma
Authors: Alber Bettina , Hein Rüdiger , Garbe Claus , Caroli Ulrich , Luppa Peter B.
Published: May 2005

The aim of this multicenter study was to evaluate the technical and clinical performance of the Elecsys
Guidelines for sampling, measuring and reporting ionized magnesium in undiluted serum, plasma or blood: International Federation of Clinical Chemistry and Laboratory Medicine (IFCC): IFCC Scientific Division, Committee on Point of Care Testing
Authors: Ben Rayana Mohammed C. , Burnett Robert W. , Covington Arthur K. , D'Orazio Paul , Fogh-Andersen Niels , Jacobs Ellis , Külpmann Wolf R. , Kuwa Katsuhiko , Larsson Lasse , Lewenstam Andrzej , Maas Anton H. J. , Mager Gerhard , Naskalski Jerzy H. J. , Okorodudu Anthony O. , Ritter Christoph , St John Andrew
Published: May 2005

All analyzers with ion-selective electrodes for ionized magnesium (iMg) should yield comparable and unbiased results. The prerequisite to achieve this goal is to reach consensus on sampling, measurement and reporting. The recommended guidelines for sampling, measurement and reporting iMg in plasma (“plasma” refers to circulating plasma and the forms in which it is sampled: the plasma phase of anticoagulated whole blood, plasma separated from blood cells, or serum) or blood, referring to the substance concentration of iMg in the calibrants, will provide results for iMg that are approximately 3% greater than its true concentration, and 4% less than its true molality. Binding of magnesium to proteins and ligands in plasma and blood is pH-dependent. Therefore, pH should be simultaneously measured to allow adjustment of iMg concentration to pH7.4. The substance concentration of iMg may be physiologically and consequently clinically more relevant than the substance concentration of total magnesium.
Smoking during pregnancy and bulimia nervosa in offspring
Authors: Montgomery Scott M , Ehlin Anna , Ekbom Anders
Published: May 2005

Because smoking during pregnancy is implicated in influencing appetite and impulse control in offspring, the aim of this study was to establish if it is associated with bulimia nervosa in offspring. Bulimia was identified at age 30 years among 4046 females, born 5–11 April, 1970. After adjustment for potential confounding factors including body mass index (BMI) and maternal psychiatric morbidity, smoking during pregnancy was associated with bulimia in offspring by age 30 years. Compared with non-smoking mothers, the adjusted odds ratios (95% confidence intervals) for bulimia in offspring were 0.74 (0.25–2.21) for those who gave up before pregnancy, 3.04 (1.16–7.95) for giving up during pregnancy and 2.64 (1.47–4.74) for smoking throughout pregnancy. Smoking during pregnancy was not associated with anorexia nervosa in offspring. Neither BMI nor variation between childhood and adult BMI explain the association. If the association of smoking during pregnancy with bulimia in offspring is causal, then it may operate through compromised central nervous system development and its influence on impulse or appetite control. The increased risk associated with mothers who gave up smoking during pregnancy emphasizes the importance of smoking cessation prior to conception.
Liquid Extraction Using Prefabricated Vertical Wells (PVWs) Under Vacuum in Clay
Authors: Warren KA , Gabr MA
Published: May 2005

A large-scale clay specimen was prepared in the laboratory using select soil to simulate WIDE technology using a geosynthetic wick drain. While a full-scale field test is necessary to quantify system flow and contaminant removal rates using WIDE technology, laboratory work is necessary to investigate flow phenomenon local to each PVW. Two methods were developed to measure the consistency of the water content and unit weight distribution for quality control purposes. Specimen preparation techniques, flow rates, settlement, piezometer, and tracer test concentration data were measured. The radius of influence, maximum extraction depth, and potential effects of long term PVW performance were discussed. The radius of influence ranged from 0.3 to 0.4 m. Due to the band shape of the PVW, the radius of influence and extraction depth were maximized near the center of the 100-mm-wide dimension, and flow efficiency was reduced near the corners of the PVW due to the decrease in PVW surface area near the 4-mm dimension. Subsequent to laboratory testing, portions of the geotextile filter jacket were utilized to determine the decrease, if any, in permeability. While there appeared to be a 14 % reduction in geotextile permeability during the test interval, soil particles also existed within the flow channels of the PVW core, indicating that long-term PVW efficiency may be a concern and needs further consideration.
Absorbed Energy and Compacted Cohesive Soil Performance
Authors: Zhang Z , Tao M , Tumay MT
Published: May 2005

This technical note proposes a new concept of absorbed energy that is related to the soil structural formation for unsaturated cohesive soils. Results from limited preliminary laboratory tests indicate that such energy correlates reasonably well with unconfined compressive strength of soils, and it can be predicted by moisture content and dry unit weight of soils. The relationship between energy and engineering properties of soils can provide a basis to correlate different geotechnical engineering behaviors that have customarily been individually studied. Consequently, a new approach to interpret some traditional processes in geotechnical engineering, such as fill compaction and strength deterioration due to seasonal variation of moisture content, is suggested from the perspective of energy concept.
The Effect of Gypsum Cementation on the Mechanical Behavior of Gravely Sands
Authors: Haeri SM , Hamidi A , Tabatabaee N
Published: May 2005

The behavior of a cemented gravely sand is studied using triaxial tests. Drained and undrained tests were performed on dry and saturated specimens, and stress-strain characteristics of the soil, along with volumetric and pore pressure changes, were identified. The gypsum plaster was used as the cement agent and was mixed with the soil in different percentages. The tests were done in the usual range of confining pressures, from 25 to 500 kPa. Test results show that dilation occurs even at the highest confining stress and the least cement content. The behavior of the cemented soil is found to be more brittle in drained condition than the undrained one. However, the brittleness of soil decreases with increase in confining stress. The ratio of cemented soil shear strength to the uncemented one decreases as the confining stress increases. The failure envelopes are curved and the drained failure envelopes are above the undrained ones. The friction angle of soil increases slightly with cement content, but the cohesion intercept increase is more noticeable. The principal stress ratio at failure decreases with increase in confining stress.
S-Wave Velocity Tomography: Small-Scale Laboratory Application
Authors: Lee J-S , Fernandez AL , Santamarina JC
Published: May 2005

Arrays of bender elements are combined with simple, yet robust inversion algorithms to develop a device for S-wave tomography. A fixed frame configuration complemented with a new versatile bender element installation permits reducing measurement errors. System design involves optimal selection of transducer separation, a frame design that prevents wave transmission, and an adequate calibration procedure. Reliable tomographic images are obtained by combining data preprocessing and the regularized least squares solution. Given the small size of the data sets, inversion techniques based on a parametric representation of the medium are implemented as well. The tomographic system is tested at low confinement and within a true triaxial cell. Results show the potential of tomographic imaging in the characterization of geotechnical systems and in the monitoring of subsurface processes. In particular, shear wave velocity tomography permits monitoring changes in the velocity field, which is related to the average effective stress in freshly-remolded uncemented soils. A minimum anomaly size and velocity contrast are required for detection. Diffraction healing hinders the detection of low velocity anomalies.
A Free-Standing Laboratory Pressure System
Authors: Pender MJ
Published: May 2005

This technical note describes a laboratory pressure system that is free standing, portable, and may be battery-powered so that it can be used in field locations if required. It has been found to be a satisfactory replacement for a laboratory pressure system based on constant bleed air pressure regulators. It has the facility for manual control of the set pressure from an onboard power supply system or remote control via d-c signal supplied from a signal generator or the digital to analog output from a data acquisition system.
Welfare, Work, and Family Well-Being: A Comparative Analysis of Welfare and Employment Status for Single Female-Headed Families Post-Tanf
Authors: Hennessy Judith
Published: May 2005

Welfare reform's emphasis on employment and declining caseloads diverts attention from the lack of success experienced by formerly welfare reliant families who participate in paid work. Using data from the 1997 and 1999 National Survey of American Families, this article investigates the effects of participation in paid work for low-income single-parent female-headed families on three important aspects of family well-being: (1) the ability to pay for rent and utilities, (2) postponing needed medical care, and (3) food hardship. Results indicate that full-time employment does not “pay off” for families who have been off welfare for two or more years when compared to families who have never relied on welfare. These findings suggest that policy makers should pay greater attention to structural conditions and expand work supports in constructing welfare policies that work for all low-income families.
Efficacy of a Benthic Trawl for Sampling Small-Bodied Fishes in Large River Systems
Authors: Herzog David P. , Barko Valerie A. , Scheibe John S. , Hrabik Robert A. , Ostendorf David E.
Published: May 2005

We conducted a study from 1998 to 2001 to determine the efficacy of a benthic trawl designed to increase species detection and reduce the incidence of zero catches of small-bodied fishes. We modified a standard two-seam slingshot balloon trawl by covering the entire trawl with a small-mesh cover. After completing 281 hauls with the modified (Missouri) trawl, we discovered that most fish passed through the body of the standard trawl and were captured in the cover. Logistic regression indicated no noticeable effect of the cover on the catch entering the standard portion of the modified trawl. However, some fishes (e.g., larval sturgeons Scaphirhynchus spp. and pallid sturgeon S. albus) were exclusively captured in the small-mesh cover, while the catch of small-bodied adult fish (e.g., chubs Macrhybopsis spp.) was significantly improved by use of the small-mesh cover design. The Missouri trawl significantly increased the number and species of small-bodied fishes captured over previously used designs and is a useful method for sampling the benthic fish community in moderate- to large-size river systems.
Toxicity and Sublethal Effects of Methanol on Swimming Performance of Juvenile Florida Pompano
Authors: Baltz D. M. , Chesney E. J. , Tarr M. A. , Kolok A. S. , Bradley M. J.
Published: May 2005

Deepwater petroleum production requires that a number of additives, such as methanol, be transported offshore in large quantities, posing the risk of spills. Although these additives may not be highly toxic per se, it is important to evaluate and understand the risks to marine organisms, especially fishes that are often strongly associated with oil production facilities. We evaluated the toxicity and sublethal effects of methanol on the swimming performance of juvenile Florida pompano Trachinotus carolinus. A 24‐h static exposure test identified the median lethal concentration as 1.28% (volume per volume) at 30 practical salinity units and 25°C. The mean critical swimming speed (Ucrit) of juveniles (20.50 ± 4.59 g; mean ± SE) was evaluated before and after exposure to a 1.07% concentration and showed that Ucrit was significantly reduced (P < 0.0002) from 90.10 ± 1.35 cm/s to 84.20 ± 1.36 cm/s in postexposure trials. After exposure and a 17‐h recovery period in clean seawater, the mean 6.5% decline in performance of the treatment group contrasted sharply with a mean increase of 4.0% in the control group, indicating that conditioning, training effects, or both were significantly surpassed by the negative sublethal effects of methanol exposure.
Essential versus complex autism: Definition of fundamental prognostic subtypes
Authors: Miles J.H. , Takahashi T.N. , Bagby S. , Sahota P.K. , Vaslow D.F. , Wang C.H. , Hillman R.E. , Farmer J.E.
Published: May 2005

Heterogeneity within the autism diagnosis obscures the genetic basis of the disorder and impedes our ability to develop effective treatments. We found that by using two readily available tests, autism can be divided into two subgroups, “essential autism” and “complex autism,” with different outcomes and recurrence risks. Complex autism consists of individuals in whom there is evidence of some abnormality of early morphogenesis, manifested by either significant dysmorphology or microcephaly. The remainder have “essential autism.” From 1995 to 2001, 260 individuals who met DSM‐IV criteria for autistic disorder were examined. Five percent (13/260) were microcephalic and 16% (41/260) had significant physical anomalies. Individually, each trait predicted a poorer outcome. Together they define the “complex autism” subgroup, comprising 20% (46/233) of the total autism population. Individuals with complex autism have lower IQs (P = 0.006), more seizures (P = 0.0008), more abnormal EEGs (46% vs. 30%), more brain abnormalities by MRI (28% vs. 13%). Everyone with an identifiable syndrome was in the complex group. Essential autism defines the more heritable group with higher sib recurrence (4% vs. 0%), more relatives with autism (20% vs. 9%), and higher male to female ratio (6.5:1 vs. 3.2:1). Their outcome was better with higher IQs (P = 0.02) and fewer seizures (P = 0.0008). They were more apt to develop autism with a regressive onset (43% vs. 23%, P = 0.02). Analysis of the features predictive of poor outcome (IQ < 55, functionally non‐verbal) showed that microcephaly was 100% specific but only 14% sensitive; the presence of physical anomalies was 86% specific and 34% sensitive. The two tests combined yielded 87% specificity, 47% sensitivity, and an odds ratio of 4.8:1 for poor outcome. Separating essential from complex autism should be the first diagnostic step for children with autism spectrum disorders as it allows better prognostication and counseling. Definition of more homogeneous populations should increase power of research analyses. © 2005 Wiley‐Liss, Inc.
Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex‐linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome
Authors: Kroes Hester Y. , Nievelstein Rutger‐Jan A.J. , Barth Peter G. , Nikkels Peter G.J. , Bergmann Carsten , Gooskens Rob H.J.M. , Visser Gepke , van Amstel Hans‐Kristian Ploos , Beemer Frits A.
Published: May 2005

We present a so far unrecognized X‐linked mental retardation syndrome with features overlapping with Joubert syndrome (JBS). Two brothers showed hypotonia, mental retardation, ocular abnormalities with impaired vision and colobomas and a breathing pattern compatible with JBS. Neuroimaging revealed cerebellar vermis hypoplasia and ventriculomegaly. A tentative diagnosis of JBS was made, and autosomal recessive inheritance considered most likely. In a subsequent pregnancy that occurred after artificial donor insemination, ultrasound in the 22nd week revealed a Dandy–Walker malformation and hydrocephaly. At autopsy at 34 weeks of gestation, the male infant showed cerebellar vermis aplasia and abnormalities of the brainstem and cerebral cortex. He was considered to have the same disorder as his two half‐brothers. This renders the pedigree highly suggestive of X‐linked inheritance. The clinical symptoms of this syndrome resemble JBS. However, the absence of the molar tooth sign and the X‐linked inheritance do not support JBS. We propose the name X‐linked cerebral‐cerebellar‐coloboma syndrome to distinguish the two disorders. Differentiation of the two disorders is especially important in genetic counseling, where artificial donor insemination may be considered as a means of reducing the recurrence risk, or when female relatives of the patient are concerned. © 2005 Wiley‐Liss, Inc.
Immune abnormalities are a frequent manifestation of Kabuki syndrome
Authors: Hoffman Jodi D. , Ciprero Karen L. , Sullivan Kathleen E. , Kaplan Paige B. , McDonald‐McGinn Donna M. , Zackai Elaine H. , Ming Jeffrey E.
Published: May 2005

Kabuki syndrome (KS) is associated with multiple organ system involvement. Characteristic features include long palpebral fissures with everted lower lids, prominent ears, skeletal abnormalities, mental retardation, and short stature. An increased incidence of infection has been reported in KS, and a few patients have been noted to have immune defects. However, the frequency and severity of the immune deficiency has not been clearly defined. Immunologic evaluation of 19 consecutive individuals with KS was performed at The Children's Hospital of Philadelphia. Decreased IgA levels were noted in 15/19 individuals (79%), 2 of whom had undetectable levels. Eight patients (42%) also had low total IgG levels. Specific IgG subclass abnormalities were found in 6 of 13 patients evaluated. IgM levels were less frequently decreased. One patient failed to generate anti‐tetanus antibodies despite immunization. This study suggests that hypogammaglobulinemia is a frequent finding in children with KS. The pattern of antibody abnormalities seen in children with KS resembles common variable immune deficiency (CVID). Due to this increased susceptibility to infection, children with KS should have immunologic evaluations at the time of diagnosis in order to reduce preventable morbidity and mortality. © 2005 Wiley‐Liss, Inc.
Omphalocele, advanced maternal age, and fetal morbidity outcomes
Authors: Salihu Hamisu M. , Emusu Donath , Aliyu Zakari Y. , Pierre‐Louis Bosny J. , Druschel Charlotte M. , Kirby Russell S.
Published: May 2005

In this study we wanted to determine if the risk for adverse neonatal outcome among omphalocele‐affected fetuses is increased among older gravidas. This was a retrospective cohort study on live‐born infants with omphalocele delivered in New York State from 1983 through 1999. We compared infants of older (≥35 years) with those of younger (<35 years) mothers with respect to the following fetal morbidity indices: low birth weight and very low birth weight, preterm and very preterm, and small for gestational age. We used adjusted odds ratios to approximate relative risks. Data on a total of 1,010 infants with omphalocele were analyzed. Mean gestational age and birth weight were similar in both maternal age categories: mean ± standard deviation (SD) for infants with omphalocele born to older mothers = 37.4 weeks ± 3.9 versus 38.0 weeks ± 5.1 for those of younger mothers (P = 0.2); mean birth weights ± SD for infants with omphalocele born to older mothers = 2,813 ± 871.1 versus 2,958 ± 809.9 for those of younger mothers (P = 0.08). Also, the two maternal age sub‐groups did not differ with respect to the fetal morbidity outcome: low birth weight (OR = 0.95; 95% CI = 0.60–1.51), very low birth weight (OR = 0.78; 95% CI = 0.36–1.69), preterm (OR = 0.95; 95% CI = 0.58–1.57), very preterm (OR = 0.73; 95% CI = 0.34–1.58), and SGA (OR = 1.00; 95% CI = 0.44–2.27). Thus, advanced maternal age does not appear to be a risk factor for fetal morbidity outcomes among omphalocele‐affected fetuses. This information is potentially useful in counseling affected parents. © 2005 Wiley‐Liss, Inc.
Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl
Authors: Kotzot Dieter , Haberlandt Edda , Fauth Christine , Baumgartner Sara , Scholl‐Bürgi Sabine , Utermann Gerd
Published: May 2005

Monosomy of 18q12.3 has been reported in only 16 cases, in one as a mosaic with a normal cell line. Abnormal behaviour, developmental delay, normal measurements, and minor facial anomalies including ptosis, bilateral epicanthus, strabismus, short and slightly down‐slanting palpebral fissures, and full cheeks are characteristic manifestations. We report on a 26‐month‐old girl with del(18)(q12.2q21.1) and typical phenotype. Microsatellite mediated haplotype analysis showed approximately 12 Mb deletion and demonstrated that the deletion was most likely formed during paternal meiosis by a rearrangement between the grandpaternal sister chromatids. © 2005 Wiley‐Liss, Inc.
Cockayne syndrome: The developing phenotype
Authors: Tan Wen‐Hann , Baris Hagit , Robson Caroline D. , Kimonis Virginia E.
Published: May 2005

Cockayne syndrome is a rare autosomal recessive condition comprising microcephaly, “cachectic dwarfism” and progressive neurological degeneration. We present a 21‐year‐old woman who was not diagnosed with Cockayne syndrome type I until she was 21 years old. Family photographs demonstrated that the phenotype of Cockayne syndrome did not become evident until she was 8 years old. She had severe microcephaly, micrognathia, protruding ears, dental overcrowding with caries, progressive spastic quadriparesis, and severe developmental regression. Her head computed tomography (CT) showed bilateral calcification of the globus pallidus and global atrophy. The purpose of this clinical report is to alert clinicians to the fact that the phenotypic features of Cockayne syndrome may be very subtle early in the course of the disease. © 2005 Wiley‐Liss, Inc.
Tel Hashomer camptodactyly syndrome: 12‐year follow‐up of a Hungarian patient and review
Authors: Melegh Béla , Hollódy Katalin , Aszmann Mária , Méhes Károly
Published: May 2005

Tel Hashomer camptodactyly syndrome (THCS) was diagnosed in a 4‐month‐old boy whom we have followed for 12 years. In addition to the characteristic clinical findings, he had preductal coarctation of the aorta, persistent ductus arteriosus, and multiple ventricular septal defects. The electron‐microscopic evaluation of his muscle biopsy showed anomalies of the sarcoplasmic reticulum and mitochondria; the organization of the myofibrils was normal. The morphological findings suggested primary or secondary involvement of neuromuscular signal transduction and involvement of mitochondria in the development of the myopathy in this child. © 2005 Wiley‐Liss, Inc.
Autosomal recessive omodysplasia: Early prenatal diagnosis and a possible clue to the gene location
Authors: Tan Tiong Yang , McGillivray George , Kornman Louise , Fink A. Michelle , Superti‐Furga Andrea , Bonafé Luisa , Francis David I. , Savarirayan Ravi
Published: May 2005

Autosomal recessive omodysplasia (ARO, OMIM#258315), a rare congenital skeletal dysplasia, is characterized by micromelia and craniofacial anomalies. Upper and lower limbs are affected in contrast to the dominant form in which the lower limbs are normal. Radiographic features include shortening and distal tapering of the humerus and femur, proximal radioulnar diastasis, and anterolateral radial head dislocation. We present a recurrence of ARO in a family, detected on prenatal ultrasound at 13 weeks of gestation. Chromosome analysis of the products of conception and the affected sibling showed a paternally‐inherited paracentric inversion of 15q13 to q21.3. Due to similarities in the clinical phenotype between diastrophic dysplasia and this condition, testing for DTDST mutation was performed with no mutation detected. © 2005 Wiley‐Liss, Inc.
Thresholds for 60 Hz magnetic field stimulation of peripheral nerves in human subjects
Authors: Bailey William H. , Nyenhuis John A.
Published: May 2005

The goal of the research reported here is to narrow the range of uncertainty about peripheral nerve stimulation (PNS) thresholds associated with whole body magnetic field exposures at 50/60 Hz. This involved combining PNS thresholds measured in human subjects exposed to pulsed magnetic gradient fields with calculations of electric fields induced in detailed anatomical models of the body by that same exposure system. PNS thresholds at power frequencies (50/60 Hz) can be predicted from these data due to the wide range of pulse durations (70 μs to 1 ms), the length of the pulse trains (several tens of ms), and the exposure of a large part of the body to the magnetic field. These data together with the calculations of the rheobase electric field exceeded in 1% (E1%) of two anatomical body models, lead to a median PNS detection threshold of 47.9 ± 4.4 mT for a uniform 60 Hz magnetic field exposure coronal to the body. The threshold for the most sensitive 1% of the population is about 27.8 mT. These values are lower than PNS thresholds produced by magnetic fields with sagittal and vertical orientations or nonuniform exposures. Bioelectromagnetics 26:462–468, 2005. © 2005 Wiley‐Liss, Inc.
Resting EEG effects during exposure to a pulsed ELF magnetic field
Authors: Cook Charles M. , Thomas Alex W. , Keenliside Lynn , Prato Frank S.
Published: May 2005

Continuing evidence suggests that extremely low frequency magnetic fields (ELF MFs) can affect animal and human behavior. We have previously demonstrated that after a 15 min exposure to a pulsed ELF MF, with most power at frequencies between 0 and 500 Hz, human brain electrical activity is affected as measured by electroencephalography (EEG), specifically within the alpha frequency (8–13 Hz). Here, we report that a pulsed ELF MF affects the human EEG during the exposure period. Twenty subjects (10 males; 10 females) received both a magnetic field and a sham session of 15 min in a counterbalanced design. Analysis of variance (ANOVA) revealed that alpha activity was significantly lower over the occipital electrodes (O1, Oz, O2) [F1,16 = 5.376, P < .01, η2 = 0.418] after the first 5 min of magnetic field exposure and was found to be related to the order of exposure (MF‐sham vs. sham‐MF). This decrease in alpha activity was no longer significant in the 1st min post‐exposure, compared to sham (P > .05). This study is among the first to assess EEG frequency changes during a weak (±200 μTpk), pulsed ELF MF exposure. Bioelectromagnetics 26:367–376, 2005. © 2005 Wiley‐Liss, Inc.
Localized effects of microwave radiation on the intact eye lens in culture conditions
Authors: Dovrat A. , Berenson R. , Bormusov E. , Lahav A. , Lustman T. , Sharon N. , Schächter L.
Published: May 2005

A novel experimental system was used to investigate the localized effects of microwave radiation on bovine eye lenses in culture for over 2 weeks. Using this setup, we found clear evidence that this radiation has a significant impact on the eye lens. At the macroscopic level, it is demonstrated that exposure to a few mW at 1 GHz for over 36 h affects the optical function of the lens. Most importantly, self‐recovery occurs if the exposure is interrupted. At the microscopic level, close examination of the lens indicates that the interaction mechanism is completely different from the mechanism‐causing cataract via temperature increase. Contrary to the latter's effect, that is particularly pronounced in the vicinity of the sutures and it is assumed to be a result of local friction between the edges of the fibers consisting the lens. Even if macroscopically the lens has recovered from the irradiation, microscopically the indicators of radiation impact remain. Bioelectromagnetics 26:398–405, 2005. © 2005 Wiley‐Liss, Inc.
Discontinuous or semi‐discontinuous DNA replication in Escherichia coli?
Authors: Wang Tzu‐Chien V.
Published: May 2005

The postulate that a stalled/collapsed replication fork will be generated when the replication complex encounters a UV‐induced lesion in the template for leading‐strand DNA synthesis is based on the model of semi‐discontinuous DNA replication. A review of existing data indicates that the semi‐discontinuous DNA replication model is supported by data from in vitro studies, while the discontinuous DNA replication model is supported by in vivo studies in Escherichia coli. Until the question of whether DNA replicates discontinuously in one or both strands is clearly resolved, any model building based on either one of the two DNA replication models should be treated with caution. BioEssays 27:633–636, 2005. © 2005 Wiley Periodicals, Inc.
The centipede Strigamia maritima: what it can tell us about the development and evolution of segmentation
Authors: Arthur Wallace , Chipman Ariel D.
Published: May 2005

One of the most fundamental features of the body plan of arthropods is its segmental design. There is considerable variation in segment number among arthropod groups (about 20‐fold); yet, paradoxically, the vast majority of arthropod species have a fixed number of segments, thus providing no variation in this character for natural selection to act upon. However, the 1000‐species‐strong centipede order Geophilomorpha provides an exception to the general rule of intraspecific invariance in segment number. Members of this group, and especially our favourite animal Strigamia maritima, may thus help us to understand the evolution of segment number in arthropods. Evolution must act by modifying the formation of segments during embryogenesis. So, how this developmental process operates, in a variable‐segment‐number species, is of considerable interest. Strigamia maritima turns out to be a tractable system both at the ecological level of investigating differences in mean segment number between populations and at the molecular level of studying the expression patterns of developmental genes. Here we report the current state of play in our work on this fascinating animal, including our recent finding of a double‐segment periodicity in the expression of two Strigamia segmentation genes, and its possible implications for our understanding of arthropod segmentation mechanisms in general. BioEssays 27:653–660, 2005. © 2005 Wiley Periodicals, Inc.
Coronin proteins as multifunctional regulators of the cytoskeleton and membrane trafficking
Authors: Rybakin Vasily , Clemen Christoph S.
Published: May 2005

Coronins constitute an evolutionarily conserved family of WD‐repeat actin‐binding proteins, which can be clearly classified into two distinct groups based on their structural features. All coronins possess a conserved basic N‐terminal motif and three to ten WD repeats clustered in one or two core domains. Dictyostelium and mammalian coronins are important regulators of the actin cytoskeleton, while the fly Dpod1 and the yeast coronin proteins crosslink both actin and microtubules. Apart from that, several coronins have been shown to be involved in vesicular transport. C. elegans POD‐1 and Drosophila coro regulate the actin cytoskeleton, but also govern vesicular trafficking as indicated by mutant phenotypes. In both organisms, defects in cytoskeleton and trafficking lead to severe developmental defects ranging from abnormal cell division to aberrant formation of morphogen gradients. Finally, mammalian coronin 7 appears not to execute any cytoskeleton‐related functions, but rather participates in regulating Golgi trafficking. Here, we review recent data providing more insight into molecular mechanisms underlying the regulation of F‐actin structures, cytoskeletal rearrangements and intracellular membrane transport by coronin proteins and the way that they might link cytoskeleton with trafficking in development and disease. BioEssays 27:625–632, 2005. © 2005 Wiley Periodicals, Inc.