bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Case Study of a Chaco Low-Level Jet Event
Authors: Saulo A. Celeste , Seluchi Marcelo E. , Nicolini Matilde 
Published: November 2004

Abstract
This paper concentrates on the analysis of the life cycle of the low-level jet (LLJ) during a summer Chaco jet event. This is accomplished through the use of the Eta/Centro de Previsão del Tempo e Estudos Climáticos (CPTEC) regional model, in order to obtain high temporal and spatial detail of the main processes taking place. Both the low-level circulation and the geopotential height evolution at different latitudes are analyzed to provide a more detailed description of the effects of topography and differential warming on the evolution of this current.
This study shows that the life cycle of the particular event analyzed is not the same at the different latitudes swept by this well-organized northerly current, expanding from 15° to 32°S during two consecutive days. A common feature to all the examined latitudes is the presence of a diurnal cycle linked to local effects, which is more evident during the first day and a half of the simulation. This cycle was identified not only by a nocturnal maximum of the wind, but also by the oscillations of the geostrophic wind close to the surface in response to differential warming over sloping terrain. However, during the second day, the diurnal oscillation is superseded by synoptic-scale forcing. The meridional growth of this northerly current reacts basically to a deepening of the northwestern Argentinean low, consequently becoming a geostrophic response to a synoptic perturbance. However, during the final stages of this event, a northerly wind area located over the southern tip of the current, which notably increases the northerlies' penetration toward higher latitudes, develops. This last extension is mainly due to a component of ageostrophic origin. Evidence is provided in support of the hypothesis that this secondary development is a feedback between the LLJ and the precipitation at the exit region.
Blockade of α6 integrin inhibits IL-1β- but not TNF-α-induced neutrophil transmigration in vivo
Authors: Dangerfield John P , Wang Shijun , Nourshargh Sussan 
Published: November 2004

Abstract
In vitro and in vivo evidence supports a functional role for the integrin α6β1 in neutrophil migration through the perivascular basement membrane, a response that in vivo appears to be associated with platelet/endothelial cell adhesion molecule-1 (PECAM-1)-mediated up-regulation of α6β1 on the cell surface of transmigrating leukocytes. As the involvement of PECAM-1 in leukocyte migration is cytokine-specific, the aim of the present study was to investigate whether α6β1 exhibited a similar profile of stimulus specificity in this context. The cytokines interleukin-1β (IL-1β) and tumor necrosis factor α (TNF-α) were used to elicit neutrophil migration in two murine models of inflammation, migration through cremasteric venules, as observed by intravital microscopy, and migration into the peritoneal cavity. The role of α6β1 was investigated using an α6 integrin-blocking monoclonal antibody GoH3. In both models, GoH3 significantly inhibited neutrophil transmigration induced by IL-1β but not TNF-α. This cytokine-specific role of α6 integrin was associated with enhanced cell-surface expression of α6β1 on transmigrated neutrophils (as compared with blood cells) in response to IL-1β but not TNF-α. Using lipopolysaccharide as an inflammatory stimulus in the cremaster muscle model, the study also provides evidence for the involvement of α6 integrin in leukocyte transmigration as mediated by endogenously generated IL-1β. Collectively, the findings demonstrate that α6β1 blockade inhibits neutrophil migration induced by exogenous and endogenous IL-1β but not TNF-α, observations that are associated with increased expression of the integrin on transmigrated leukocytes.
Risk-Adapted, Combined-Modality Therapy With VAMP/COP and Response-Based, Involved-Field Radiation for Unfavorable Pediatric Hodgkin's Disease
Authors: Hudson Melissa M. , Krasin Matthew , Link Michael P. , Donaldson Sarah S. , Billups Catherine , Merchant Thomas E. , Kun Larry , Billet Amy L. , Kaste Sue , Tarbell Nancy J. , Howard Scott , Friedmann Alison M. , Hurwitz Craig A. , Young Jeffrey A. , Marcus Karen C. , Rai Shesh , Cowan Traci , Weinstein Howard J. 
Published: November 2004

Purpose To evaluate the efficacy of vinblastine, doxorubicin, methotrexate, and prednisone (VAMP) and cyclophosphamide, vincristine, and procarbazine (COP) chemotherapy and response-based, involved-field radiation, a combined-modality regimen that limits doses of alkylating agents, anthracyclines, and radiation, in children with advanced and unfavorable Hodgkin's disease. Patients and Methods From 1993 to 2000, 159 children and adolescents with unfavorable Hodgkin's disease received three alternating cycles (total of six cycles) of VAMP/COP chemotherapy followed by response-based, involved-field radiation therapy: 15 Gy was administered to patients achieving a complete response, and 25.5 Gy was administered to those achieving a partial response after the first two cycles of chemotherapy and to all sites of bulky lymphadenopathy. Unfavorable disease was defined as clinical stage I and II with bulky peripheral nodal disease greater than 6 cm, initial bulky mediastinal mass 33% or more of the intrathoracic diameter, and/or “B” symptoms and all stage III and IV. Results Study enrollment was closed after an interim analysis estimated a 5-year event-free survival (EFS) rate below a predefined level. Disease presentation was localized (stage I/II) in 77 patients (48.4%) and advanced (stage III/IV) in 82 patients (51.6%). At a median follow-up of 5.8 years (range, 1.3 to 10.0 years), 38 patients had events, including relapse/progression (n = 35), second malignancy (n = 2), and accidental death (n = 1); nine relapses (25.7%) occurred greater than 4 years from diagnosis. Five-year survival and EFS estimates are 92.7% ± 2.5% and 75.6% ± 4.1%, respectively. Conclusion Risk-adapted combined-modality therapy with VAMP/COP and response-based, involved-field radiation therapy results in an unsatisfactory outcome for pediatric patients with unfavorable presentations of Hodgkin's disease.
The Zinc Finger-Containing Transcription Factor Gata-4 Is Expressed in the Developing Endocrine Pancreas and Activates Glucagon Gene Expression
Authors: Ritz-Laser Beate , Mamin Aline , Brun Thierry , Avril Isabelle , Schwitzgebel Valérie M. , Philippe Jacques 
Published: November 2004

AbstractGene inactivation studies have shown that members of the Gata family of transcription factors are critical for endoderm development throughout evolution. We show here that Gata-4 and/or Gata-6 are not only expressed in the adult exocrine pancreas but also in glucagonoma and insulinoma cell lines, whereas Gata-5 is restricted to the exocrine pancreas. During pancreas development, Gata-4 is expressed already at embryonic d 10.5 and colocalizes with early glucagon+ cells at embryonic d 12.5. Gata-4 was able to transactivate the glucagon gene both in heterologous BHK-21 (nonislet Syrian baby hamster kidney) and in glucagon-producing InR1G9 cells. Using gel-mobility shift assays, we identified a complex formed with nuclear extracts from InR1G9 cells on the G5 control element (−140 to −169) of the glucagon gene promoter as Gata-4. Mutation of the GATA binding site on G5 abrogated the transcriptional activation mediated by Gata-4 and reduced basal glucagon gene promoter activity in glucagon-producing cells by 55%. Furthermore, Gata-4 acted more than additively with Forkhead box A (hepatic nuclear factor-3) to trans-activate the glucagon gene promoter. We conclude that, besides its role in endoderm differentiation, Gata-4 might be implicated in the regulation of glucagon gene expression in the fetal pancreas and that Gata activity itself may be modulated by interactions with different cofactors.
Quantitative Analysis of Circulating Plasma DNA as a Tumor Marker in Thoracic Malignancies
Authors: Herrera Luis J , Raja Siva , Gooding William E , El-Hefnawy Talal , Kelly Lori , Luketich James D , Godfrey Tony E 
Published: November 2004

Abstract
Background: Increased plasma DNA has been found in cancer patients and may have potential as a tumor marker. The objectives of this study were to develop a controlled, quantitative PCR (QPCR) assay to measure plasma DNA and then evaluate plasma DNA concentrations as a tumor marker in patients with thoracic malignancies.
Methods: We developed a QPCR assay for DNA, using the human β-actin gene. Plasma samples were analyzed from 58 patients with esophageal cancer (EC; 20 banked samples and 38 prospectively collected samples) and 25 patients with lung cancer (LC; all prospectively collected). Control groups consisting of 51 patients with gastroesophageal reflux disease (GERD; 23 banked samples and 28 prospectively collected) and 11 healthy volunteers were also analyzed.
Results: The assay had an experimental variability &lt;4%. In our banked samples, the mean concentration of plasma DNA in EC was 819.0 μg/L (range, 46.2–4738.0 μg/L) vs 432.0 μg/L (6.0–2888.0 μg/L) in GERD (P = 0.02). However, the prospectively collected samples had lower DNA concentrations, and there was no difference between cancer patients and controls. The mean DNA concentration was 10.6 μg/L (range, 7.0–14.0 μg/L) in healthy volunteers and 10.5 μg/L (range, 4.0–23.5 μg/L) in GERD controls vs 13.0 μg/L (range, 4.5–46.5 μg/L) in EC and 14.6 μg/L (range, 3.0–30.0 μg/L) in LC.
Conclusions: Our data indicate that plasma DNA concentrations are of limited diagnostic value when samples are prospectively collected and uniformly handled. This is in contrast to previously published results. Qualitative analysis of DNA may be needed if plasma nucleic acids are to be used as a diagnostic tool in cancer screening.
Behavioural coherence in violent group activity: An interpersonal model of sexually violent gang behaviour
Authors: Porter Louise E. , Alison Laurence J. 
Published: November 2004

AbstractThis study provides an analysis of offender‐victim interactions in 223 cases of sexual violence committed in gangs. Cases were derived from archival sources such as law reports. A multivariate analysis revealed four interpersonal themes (dominance, submission, co‐operation, and hostility) previously identified in studies of lone sexual assault [Alison and Stein, Vicious Circles: Accounts of stranger sexual assault reflect abusive variants of conventional interactions. J Forensic Psychiatry 12:515–538, 2001]. These themes have also been identified in many other forms of human relating [Wiggins, An informal history of the interpersonal circumplex tradition. J Pers Assess 66:217–233, 1996] and conform to a structure known as the interpersonal circumplex. The circumplex has previously been used to conceptualise the relationships between individuals in terms of dynamic interactions that are mutually influencing. Thus, dominance elicits submission and submission elicits dominance. Each interpersonal style could be further subdivided according to the use of either verbally or physically abusive strategies. Point‐Biserial correlations with other aspects of the offence (e.g., mobility of the group, post‐offence treatment of the victim) provided additional support for these conceptually different themes and demonstrated that gang rape represents a distorted and violent form of interpersonal relating. Further, this dynamic interaction emerges not just at an individual level, but at a group level, suggesting that the thematic concepts underpinning the interpersonal circumplex can be extended to group activity and sexually aggressive behaviour. Aggr. Behav. 30:449–468, 2004. © 2004 Wiley‐Liss, Inc.
Adaptive output feedback actuator failure compensation for a class of non‐linear systems
Authors: Tang Xidong , Tao Gang , Joshi Suresh M. 
Published: November 2004

AbstractAn adaptive compensation control scheme using output feedback is designed and analysed for a class of non‐linear systems with state‐dependent non‐linearities in the presence of unknown actuator failures. For a linearly parameterized model of actuator failures with unknown failure values, time instants and pattern, a robust backstepping‐based adaptive non‐linear controller is employed to handle the system failure, parameter and dynamics uncertainties. Robust adaptive parameter update laws are derived to ensure closed‐loop signal boundedness and small tracking errors, in general, and asymptotic regulation, in particular. An application to controlling the angle of attack of a non‐linear hypersonic aircraft dynamic model in the presence of elevator segment failures is studied and simulation results show that the developed adaptive control scheme has desired actuator failure compensation performance. Copyright © 2004 John Wiley & Sons, Ltd.
Rejection of periodic disturbances of unknown and time‐varying frequency
Authors: Bodson Marc 
Published: November 2004

AbstractThe paper reviews available methods for the rejection of periodic disturbances. Such disturbances are often encountered in active noise and vibration control, due to rotating machinery. The emphasis of the paper is on feedback control problems where reference sensors are not available. The case where the frequency of the disturbance is known is considered first. Two sets of algorithms are discussed: one based on the internal model principle of feedback control theory, and the second based on adaptive feedforward cancellation. An interesting observation is that algorithms originating from both approaches can be shown to be equivalent under certain conditions. When the frequency of the disturbance is unknown, an intuitive approach consists in combining a method for the rejection of disturbances of known frequency with a frequency estimator. Alternatively, one may seek to develop a stable adaptation mechanism so that the disturbance is cancelled asymptotically. While algorithms can be designed to adapt to plant and disturbance parameters, the most successful approaches use some limited plant information to adapt the magnitude, frequency, and phase parameters of the control signal. Applications are discussed throughout the paper. Copyright © 2004 John Wiley & Sons, Ltd.
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
Authors: Ha‐Vinh Russia , Alanay Yasemin , Bank Ruud A. , Campos‐Xavier Ana Belinda , Zankl Andreas , Superti‐Furga Andrea , Bonafé Luisa 
Published: November 2004

AbstractBruck syndrome (BS) is a recessively‐inherited phenotypic disorder featuring the unusual combination of skeletal changes resembling osteogenesis imperfecta (OI) with congenital contractures of the large joints. Clinical heterogeneity is apparent in cases reported thus far. While the genes coding for collagen 1 chains are unaffected in BS, there is biochemical evidence for a defect in the hydroxylation of lysine residues in collagen 1 telopeptides. One BS locus has been mapped at 17p12, but more recently, two mutations in the lysyl hydroxylase 2 gene (PLOD2, 3q23‐q24) have been identified in BS, showing genetic heterogeneity. The proportion of BS cases linked to 17p22 (BS type 1) or caused by mutations in PLOD2 (BS type 2) is still uncertain, and phenotypic correlations are lacking. We report on a boy who had congenital contractures with pterygia at birth and severe OI‐like osteopenia and multiple fractures. His urine contained high amounts of hydroxyproline but low amounts of collagen crosslinks degradation products; and he was shown to be homozygous for a novel mutation leading to an Arg598His substitution in PLOD2. The mutation is adjacent to the two mutations previously reported (Gly601Val and Thr608Ile), suggesting a functionally important hotspot in PLOD2. The combination of pterygia with bone fragility, as illustrated by this case, is difficult to explain; it suggests that telopeptide lysyl hydroxylation must be involved in prenatal joint formation and morphogenesis. Collagen degradation products in urine and mutation analysis of PLOD2 may be used to diagnose BS and differentiate it from OI. © 2004 Wiley‐Liss, Inc.
Reevaluating confined placental mosaicism
Authors: Stetten Gail , Escallon Cathleen S. , South Sarah T. , McMichael Joseph L. , Saul Daniel O. , Blakemore Karin J. 
Published: November 2004

AbstractChromosomal mosaicism was found in 38 of 4,000 chorionic villus samples examined from 1998 to 2003. A small fraction of these (5/38) were confirmed as true mosaics by analysis of amniotic fluid. Twenty‐nine cases that fit the definition of confined placental mosaicism were followed with clinical and cytogenetic analysis throughout the pregnancy, at birth and in a few cases into infancy. This was done to determine the prognostic interpretation of prenatal cytogenetic results from multiple specimens in a single pregnancy and thus allow for reevaluation of the genetic counseling. In 2 of these 29 cases, low‐level mosaicism was found in the neonate, and in 1 of these the chromosome abnormality is probably the cause of the resulting minor phenotypic abnormalities. Families face unique difficulties when confined placental mosaicism is the prenatal diagnosis, and it is extremely important that the counseling they receive takes into consideration the unlikely possibility of the placental abnormality appearing in fetal tissues. © 2004 Wiley‐Liss, Inc.
Pronounced short stature in a girl with tricho‐rhino‐phalangeal syndrome II (TRPS II, Langer–Giedion syndrome) and growth hormone deficiency
Authors: Riedl S. , Giedion A. , Schweitzer K. , Müllner‐Eidenböck A. , Grill F. , Frisch H. , Lüdecke H.‐J. 
Published: November 2004

AbstractWe report on a 10‐year‐old girl with tricho‐rhino‐phalangeal syndrome type II (TRPS II) and pronounced short stature (−4.8 SD). The patient has an interstitial chromosome 8q24.1 deletion of 12–15 Mb. The deletion spans all genes from CSMD3 to at least ANXA13 including the TRPS1 and EXT1 genes, which are responsible for the TRPS II phenotype. In addition to the features of TRPS II, the patient had growth hormone (GH) deficiency with diminished response in three stimulation tests. Therapy with 0.2 mg GH/kg/week led to an increase of growth velocity from 2.5 to 6.6 cm/year. To our knowledge, such a combination of TRPS II and GH deficiency has not yet been described. © 2004 Wiley‐Liss, Inc.
Symptomatic Chiari I malformation in Kabuki syndrome
Authors: Ciprero Karen L. , Clayton‐Smith Jill , Donnai Dian , Zimmerman Robert A. , Zackai Elaine H. , Ming Jeffrey E. 
Published: November 2004

AbstractKabuki (Niikawa–Kuroki) syndrome is associated with a characteristic facial appearance, cleft palate, congenital heart defects, and developmental delay. Structural brain anomalies have only occasionally been described in Kabuki syndrome. Chiari type I malformation, characterized by caudal herniation of the cerebellar tonsils through the foramen magnum, has been described only infrequently in association with defined syndromes and has been reported once in association with Kabuki syndrome. We report three additional children with Kabuki syndrome who have Chiari I malformation. Two children presented with chronic headaches and the third patient presented with gait abnormalities in adolescence. The incidence of Chiari I malformation may be higher than previously reported in Kabuki syndrome since it may not be diagnosed until later in childhood, whereas most reports of Kabuki syndrome are of young children. Further, symptoms of Chiari I anomaly can be somewhat nonspecific. Thus, we suggest that Chiari type I be considered in patients with Kabuki syndrome who present with persistent headache, neck pain, or other symptoms suggestive of Chiari I anomaly. © 2004 Wiley‐Liss, Inc.
A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema‐distichiasis syndrome associated with renal disease and diabetes mellitus
Authors: Yildirim‐Toruner Cagri , Subramanian Kavitha , El Manjra Lamya , Chen Emily , Goldstein Stanley , Vitale Emilia 
Published: November 2004

AbstractLymphedema‐distichiasis (LD) syndrome is a clinically variable autosomal dominant disorder. The disorder is caused by mutations in the forkhead transcription factor FOXC2 gene on chromosome band 16q24.3. Here, we report the sequence of the FOXC2 gene in a German–Irish family with LD in six affected relatives over three generations and identify a single adenine base pair insertion at nt 1006⁁1007. This insertion creates a frameshift mutation that predicts a premature stop at codon 462. In addition to LD, four of the affected family members have renal disease and three have diabetes mellitus (DM), not usually seen in the LD syndrome. Polymorphisms of FOXC2 in diabetics have been studied in different populations. Our sequence analysis of the 5′ untranslated region (UTR) C‐512T shows the homozygous T allele in all family members tested. The sequencing data in this family suggests the possibility of a novel phenotype–haplotype. This novel phenotype, LD/renal disease/type 2 diabetes, might be the result of a combination of the nt 1006⁁1007 insA and the upstream UTR homozygous T polymorphism. © 2004 Wiley‐Liss, Inc.
Deficit of in vivo mitochondrial ATP production in OPA1‐related dominant optic atrophy
Authors: Lodi Raffaele , Tonon Caterina , Valentino Maria Lucia , Iotti Stefano , Clementi Valeria , Malucelli Emil , Barboni Piero , Longanesi Lora , Schimpf Simone , Wissinger Bernd , Baruzzi Agostino , Barbiroli Bruno , Carelli Valerio 
Published: November 2004

AbstractDominant optic atrophy has been associated with mutations in the OPA1 gene, which encodes for a dynamin‐related GTPase, a mitochondrial protein implicated in the formation and maintenance of mitochondrial network and morphology. We used phosphorus magnetic resonance spectroscopy to assess calf muscle oxidative metabolism in six patients from two unrelated families carrying the c.2708‐2711delTTAG deletion in exon 27 of the OPA1 gene. The rate of postexercise phosphocreatine resynthesis, a measure of mitochondrial adenosine triphosphate production rate, was significantly delayed in the patients. Our in vivo results show for the first time to our knowledge a deficit of oxidative phosphorylation in OPA1‐related DOA. Ann Neurol 2004;56:719–723
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation
Authors: Miller Chaya , Saada Ann , Shaul Nava , Shabtai Naama , Ben‐Shalom Efrat , Shaag Avraham , Hershkovitz Eli , Elpeleg Orly 
Published: November 2004

AbstractThe mitochondrial respiratory chain comprises 85 subunits, 13 of which are mitochondrial encoded. The synthesis of these 13 proteins requires many nuclear‐encoded proteins that participate in mitochondrial DNA replication, transcript production, and a distinctive mitochondrial translation apparatus. We report a patient with agenesis of corpus callosum, dysmorphism, and fatal neonatal lactic acidosis with markedly decreased complex I and IV activity in muscle and liver and a generalized mitochondrial translation defect identified in pulse‐label experiments. The defect was associated with marked reduction of the 12S rRNA transcript level likely attributed to a nonsense mutation in the MRPS16 gene. A new group of mitochondrial respiratory chain disorders is proposed, resulting from mutations in nuclear encoded components of the mitochondrial translation apparatus. Ann Neurol 2004;56:734–738