bluuebunny/crossref_metadata_2025_split huggingface dataset:
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

AbstractDeepwater 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

AbstractHeterogeneity 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

AbstractWe 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

AbstractKabuki 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

AbstractIn 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

AbstractMonosomy 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

AbstractCockayne 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

AbstractTel 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

AbstractAutosomal 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

AbstractThe 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

AbstractContinuing 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

AbstractA 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

AbstractThe 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

AbstractOne 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

AbstractCoronins 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.
Shugoshin: a centromeric guardian senses tension
Authors: Goulding Sarah E. , Earnshaw William C. 
Published: May 2005

AbstractTo ensure accurate chromosome segregation during mitosis, the spindle checkpoint monitors chromosome alignment on the mitotic spindle. Indjeian and colleagues have investigated the precise role of the shugoshin 1 protein (Sgo1p) in this process in budding yeast.1 The Sgo proteins were originally identified as highly conserved proteins that protect cohesion at centromeres during the first meiotic division. Together with other recent findings,2 the study highlighted here has identified Sgo1 as a component that informs the mitotic spindle checkpoint when spindle tension is perturbed. This discovery has provided a molecular link between sister chromatid cohesion and tension‐sensing at the kinetochore–microtubule interface. BioEssays 27:588–591, 2005. © 2005 Wiley Periodicals, Inc.
Phase equilibrium in poly(rA) · poly(rU) complexes with Cd2+ and Mg2+ ions, studied by ultraviolet, infrared, and vibrational circular dichroism spectroscopy
Authors: Blagoi Yurii , Gladchenko Galina , Nafie Laurence A. , Freedman Teresa B. , Sorokin Victor , Valeev Vladimir , He Yanan 
Published: May 2005

AbstractUltraviolet (UV) and infrared (IR) absorption and vibrational circular dichroism (VCD) spectroscopy were used to study conformational transitions in the double‐stranded poly(rA)· poly(rU) and its components—single‐stranded poly(rA) and poly(rU) in buffer solution (pH 6.5) with 0.1M Na+ and different Mg2+ and Cd2+ (10−6 to 10−2M) concentrations. Transitions were induced by elevated temperature that changed from 10 up to 96°C. IR absorption and VCD spectra in the base‐stretching region were obtained for duplex, triplex, and single‐stranded forms of poly(rA) · poly(rU) at [Mg2+],[Cd2+]/[P] = 0.3. For single‐stranded polynucleotides, the kind of conformational transition (ordering → disordering → compaction, aggregation) is conditioned by the dominating type of Me2+–polymer complex that in turn depends on the ion concentration range. The phase diagram obtained for poly(rA) · poly(rU) has a triple point ([Cd2+] ∼ 10−4M) at which the helix–coil (2 → 1) transition is replaced with a disproportion transition 2AU → A2U + poly(rA) (2 → 3) and the subsequent destruction of the triple helix (3 → 1). The 2 → 1 transitions occur in the narrow temperature interval of 2°–5°. Unlike 2 → 1 and 3 → 1 melting, the disproportion 2 → 3 transition is a slightly cooperative one and observed over a wide temperature range. At [Me2+] ∼ 10−3M, the temperature interval of A2U stability is not less than 20°C. In the case of Cd2+, it increases with the rise of ion concentration due to the decrease of T. The T value is practically unchanged up to [Cd2+] ∼10−3M. Differences between diagrams for Mg2+ and Cd2+ result from the various kinds of ion binding to poly(rA) · poly‐(rU) and poly(rA). © 2005 Wiley Periodicals, Inc. Biopolymers 78: 275–286, 2005