bluuebunny/crossref_metadata_2025 huggingface dataset:
Electrochemistry of Dopamine β-Hydroxylase in Adsorbed State at a Gold Electrode
Authors: Ion Ana , Ljones Torbjørn , Banica Florinel G.
Published: April 2004

Dopamine β-hydroxylase (DBH) adsorbed on gold electrode was investigated by electrochemical and quartz crystal microbalance methods. It was found that DBH can adsorb irreversibly on a gold electrode under open circuit conditions. In a neutral phosphate buffer, the adsorbed layer is stable to desorption within the potential range of 0.6 to -0.7 V vs Ag|AgCl (1 M KCl) electrode. At potentials positive than 0.8 V, adsorbed DBH undergoes an electrochemical oxidation involving probably tyrosine, tryptophan and histidine residues. This process is accompanied by DBH desorption and gold oxidation. In the cathodic potential region, from -0.2 to -0.7 V, DBH exhibits two reductions assigned to disulfide groups. No charge transfer reactions involving the copper centres in DBH have been noticed. However, DBH can bind reversibly copper(II) ions, which are not involved in the enzymatic activity and their presence was proved by voltammetry. The compactness of the adsorbed film was checked by cyclic voltammetry of selected redox probes at the DBH-coated electrode.
A Linear Synthesis of 1-(β-D-Glucopyranosyl)brassinin, -brassenin A, -brassenin B and 9-(β-D-Glucopyranosyl)cyclobrassinin
Authors: Kutschy Peter , Sabol Marian , Marušková Renata , Čurillová Zuzana , Dzurilla Milan , Géci Imrich , Alföldi Juraj , Kováčik Vladimír
Published: April 2004

The first synthesis of 1-(β-D-glucopyranosyl)brassinin, 1-(β-D-glucopyranosyl)brassenin A, 1-(β-D-glucopyranosyl)brassenin B and 9-(β-D-glucopyranosyl)cyclobrassinin, nucleoside analogs derived from indole phytoalexins, was achieved by linear approach, using the 1-(2,3,4,6-tetra-O-acetyl-β-D-glucopyranosyl)indole-3-carbaldehyde as a starting compound. Antiproliferative and antimicrobial activity of synthesized compounds against murine leukaemia tumor cell line L1210 and selected bacteria and fungi was examined and compared with the corresponding phytoalexin aglycons.
A NONTHERMAL MODEL FOR CATALYTIC SURFACE REACTION OF THE TYPE A2+B2→2AB: A MONTE CARLO SIMULATION STUDY
Authors: KHAN K. M. , AHMAD W. , IQBAL K.
Published: April 2004

The kinetics of irreversible dimer–dimer reaction of the type A2+B2→2AB has already been studied through Monte Carlo simulation via a model based on Langmuir–Hinshelwood (thermal) mechanism. The results of this study are well known. There is single transition point (yC) at yB=0.5 (where yBis partial pressure of B2dimer in gas phase), which separates the two poisoned states from each other. Here, we have studied this reaction on the basis of a nonthermal model, which involves the precursor motion of B2molecule. The most interesting feature of this model is that it yields a steady reactive window. The phase diagram is similar to the ZGB model. The reactive window is separated by continuous and discontinuous irreversible phase transitions. The width of the reactive window depends upon the mobility of the precursors. The dependence of production rate on partial pressure of B2is shown by simple mathematical equations in our model. Some interesting results are observed when reaction between precursors and chemisorbed B atoms is considered.
CALCULATION FOR A Cu(001) SURFACE WITH AN IMPURITY ATOM
Authors: YANG CHIH-KAI
Published: April 2004

I use a self-consistent electronic structure calculation to study the system of Cu(001) that has an impurity atom replacing one of the surface Cu atoms. The calculation makes use of the tight-binding linear muffin-tin orbitals (TB-LMTO) and is carried out in real space. I am able to derive the spin-polarized local densities of states for the impurity Cr and Fe respectively, which have peaks below the Fermi level. Charge transfers between the impurities and their neighbors also result in different distributions of magnetic moments for the two impurity systems, with the Cr having approximately 0.5μ B and the Fe atom having a negligible magnetic moment.
SUPPRESSING OR INDUCING CHAOS BY WEAK RESONANT EXCITATIONS IN AN EXTERNALLY-FORCED FROUDE PENDULUM
Authors: CAO HONGJUN , CHI XUEBIN , CHEN GUANRONG
Published: April 2004

Based on analytic and numerical investigations of chaotic vibrations and quasiperiodic rotations of the Froude pendulum, we present a sufficient condition for controlling chaos by means of a weak resonant excitation as the initial phase difference Ψ varies. It is shown via the Melnikov function method that the initial phase difference Ψ plays a vital role in suppressing or inducing chaotic motions or quasiperiodic rotations.
A COMPARATIVE STUDY OF MODEL SELECTION METHODS FOR NONLINEAR TIME SERIES
Authors: NAKAMURA TOMOMICHI , KILMINSTER DEVIN , JUDD KEVIN , MEES ALISTAIR
Published: April 2004

Constructing models of nonlinear time series is typically NP-hard. One of the difficulties is the local minima, and it is difficult to find a global best model. Some methods have already been proposed that attempt to find good models with reasonable computation time. In this paper we propose new methods that can compensate for a drawback of a method previously proposed by Judd and Mees. A standard approach to NP-hard problems is simulated annealing. We apply these methods to build models of annual sunspot numbers and a laser time series, and compare the results. The results indicate that the performance of the proposed method is comparable to that of simulated annealing in both time series. The performance of Judd and Mees method is almost the same as that of the other methods for the annual sunspot data, but not as good for laser time series. The Judd and Mees method is computationally the fastest of all the methods, and the proposed method is faster than simulated annealing.
THE FLUX CREEP AUTOMATON
Authors: LINDNER JOHN F. , HUGHES SCOTT B. , MILLER DAVID J. , THOMAS BRADLEY C. , WIESENFELD KURT
Published: April 2004

We study a cellular automaton derived from the phenomenon of magnetic flux creep in two-dimensional granular superconductors. We model the superconductor as an array of Josephson junctions evolving according to a set of coupled ordinary differential equations. In the limit of slowly increasing magnetic field, we reduce these equations to a simple cellular automaton. The resulting discrete dynamics, a stylized version of the continuous dynamics of the differential equations, is equivalent to the dynamics of a gradient sand pile automaton. We study the dynamics as we vary the symmetry of the underlying lattice and the shape of its boundary. We find that the "simplest" realization of the automaton, on a square lattice with commensurate boundaries, results in especially simple dynamics, while "generic" realizations exhibit more complicated dynamics characterized by statistics with broad distributions, even in the absence of noise or disorder.
Regulation of Ion Channel Expression
Authors: Rosati Barbara , McKinnon David
Published: April 2004

A potentially important mechanism controlling ion channel expression is homeostatic regulation, which can act to maintain a stable electrophysiological phenotype in cardiac myocytes as well as to provide plasticity in response to genetic, pathological, or pharmacological insults. The capabilities and limitations of the homeostatic regulatory mechanisms that contribute to the control of cardiac ion channel expression are the primary topic of this review.
A new species of elongate seps from Udzungwa grasslands, southern Tanzania (Reptilia, Gerrhosauridae, Tetradactylus Merrem, 1820)
Authors: Menegon Michele , Moyer David , Salvidio Sebastiano , Sindaco Roberto
Published: April 2004

A new Tetradactylus from Udzungwa Mountains is described on the basis of one adult male and one adult female. The species has tridactyle forelimbs with the longest toes bearing four scales, didactyle hind limbs, 14 dorsal longitudinal row scales, four femoral pores and frontoparietals in broad contact. This combination of morphological characters distinguishes the species from the similar T. eastwoodae, a South African endemic. The new species has smooth head scales, six ventral rows, and the male possess on either side of the vent a prominent claw-like scale lacking in the female. The species has been found in swampy montane grasslands at about 1880 m. It is syntopic with three other specialised grass lizards: Ellenberger's long-tailed Seps (Tetradactylus ellenbergeri), Zambian grass lizard (Cordylus macrolepis), and the Grass-top skink (Mabuya megalura).
Morphology of premetamorphic larvae of Lysapsus limellus (Anura: Pseudinae)
Authors: Candioti M .F. Vera
Published: April 2004

The chondrocranium, visceral skeleton, mandibular, hyoid and hyobranchial musculature, buccal apparatus and buccopharyngeal cavity of premetamorphic larvae of Lysapsus limellus from Santa Fe, Argentina are described. The cartilaginous skeleton corresponds in general terms to that of a typical pond type tadpole. Some characteristic features are the flat triangular projection of the arcus subocularis quadrati, the scarce development of the cartilagines orbitales, the presence of the processus pseudopterygoideus and quadratoethmoidalis, the open fenestra basicranialis, and the presence of a reticulating cartilaginous connection between the spicula III, IV and the plana hypobranchialia. Regarding muscles, the most salient characters are the configuration of the m. levator mandibulae lateralis, with nasal insertion, and the presence of a discontinuous m. subarcualis rectus II-IV. The oral disc and buccal cavity show features that indicate a generalist-mesophagous diet, for example the presence of jaw sheaths, rows of keratodonts, filter structures on the buccal floor and roof, and a glandular epithelium in the ventral velum.
Herpes simplex virus type 1 and normal protein permeability in the lungs of critically ill patients: a case for low pathogenicity?
Authors: Verheij Joanne , Groeneveld AB Johan , Beishuizen Albertus , Lingen Arthur van , Simoons-Smit Alberdina M , Strack van Schijndel Rob JM
Published: April 2004

Introduction

The pathogenicity of late respiratory infections with herpes simplex virus type 1 (HSV-1) in the critically ill is unclear.

Methods

In four critically ill patients with persistent pulmonary infiltrates of unknown origin and isolation of HSV-1 from tracheal aspirate or bronchoalveolar lavage fluid, at 7 (1–11) days after start of mechanical ventilatory support, a pulmonary leak index (PLI) for 67Gallium (67Ga)-transferrin (upper limit of normal 14.1 × 10-3/min) was measured.

Results

The PLI ranged between 7.5 and 14.0 × 10-3/min in the study patients. Two patients received a course of acyclovir and all survived.

Conclusions

The normal capillary permeability observed in the lungs argues against pathogenicity of HSV-1 in the critically ill, and favors that isolation of the virus reflects reactivation in the course of serious illness and immunodepresssion, rather than primary or superimposed infection in the lungs.
Outcome of Childhood Acute Promyelocytic Leukemia With All-Trans-Retinoic Acid and Chemotherapy
Authors: de Botton S. , Coiteux V. , Chevret S. , Rayon C. , Vilmer E. , Sanz M. , de La Serna J. , Philippe N. , Baruchel A. , Leverger G. , Robert A. , San Miguel J. , Conde E. , Sotto J.J. , Bordessoule D. , Fegueux N. , Fey M. , Parry A. , Chomienne C. , Degos L. , Fenaux P.
Published: April 2004

Purpose

To determine the results of treatment combining all-trans-retinoic acid (ATRA) and chemotherapy (CT) in childhood acute promyelocytic leukemia (APL).

Patients and Methods

Children (< 18 years) with newly diagnosed APL were included in the APL93 trial, treated by ATRA followed or combined with daunorubicin-cytarabine, and then randomly assigned between no maintenance, intermittent ATRA, continuous CT, or both.

Results

Of the 576 patients included in APL93 trial, 31 (5%) were children, including 22 girls (71%) and nine boys (29%). Thirty of the children (97%) obtained complete remission (CR). ATRA syndrome occurred in four children (13%), who all achieved CR, and headaches occurred in 12 children (39%), with signs of pseudotumor cerebri in five children (16%). Seven patients (23%) relapsed. None of the eight patients who received both ATRA and CT for maintenance relapsed. All relapsing patients achieved a second CR. Twenty-two patients remained in first CR after 43+ to 96+ months, six remained in second CR after 17+ to 66+ months, and three patients had died. The 5-year event-free survival (EFS), relapse, and overall survival rates were 71%, 27%, and 90%, respectively. No difference between adults and children included in the APL93 trial was seen for CR rate, 5-year relapse rate, EFS, and overall survival, but significantly better survival was seen in children after adjustment on WBC counts (P = .02) and incidence of microgranular M3 variant (P = .04).

Conclusion

ATRA combined with CT for induction and also probably for maintenance provides as favorable results in children with APL as in adults and currently constitutes the reference first-line treatment in both age groups.
Optimization method for the design of axial hydraulic turbines
Authors: Lipej A
Published: April 2004

Computational fluid dynamics (CFD) is becoming an increasingly reliable tool for the design of water turbines. Using different CFD codes, it is possible to find out and compare criteria for classifying runner blade geometry regarding the strengths of their characteristics. The final decision of runner geometry, with demanding energetic and cavitation characteristics, always remains for the design engineer. To reach the final result, the engineer has to compare the flow analysis results of a great number of different geometries. To replace a part of this work, an optimization algorithm has been developed. This optimization procedure helps to check many more geometries with less human work. In this paper, a multiobjective genetic algorithm for the design of axial runners is presented. For the flow analysis, the CFX-TASC flow code, with a standard k-ɛ turbulence model, has been used, because the code enables calculation within a rotating frame of reference. For design of the initial geometry, within the optimization procedure, a special program has been developed, which makes it possible to start the optimization procedure with a relatively high level of efficiency and transforms prescribed genetic parameters to the runner geometry.
An investigation into the flow within inclined rotating orifices and the influence of incidence angle on the discharge coefficient
Authors: Indris A , Pullen K , Barnes D
Published: April 2004

In many engineering machines, it is necessary to pass fluid, usually air, through rotating surfaces, such as a disc or drum. This is achieved by perforating the disc with a series of holes arranged on a pitch circle. It is vital for the machine designer to know the pressure ratio required to pass a desired mass flow rate. This characteristic is defined by determination of the discharge coefficient as a function of various parameters. Until recently, the literature describing this problem was small and covered a few particular cases. More articles are appearing and this present study seeks to add to the current level of knowledge by addressing the effect of the inclinations of the holes to the tangential direction. A rig was designed and built to perform the experiments and the data were compared with the numerical analysis performed by proprietary software STAR-CD. The results indicate that the discharge coefficient is highly affected by the rotational speed and that orientating the orifices at an appropriate angle of inclination enables the discharge coefficient to be maximized. Most of the studies in the past used the ratio of tangential speed and the ideal axial velocity to represent the discharge coefficient, but it has been revealed in this paper that incidence angle is more appropriate in correlating the effect of orifice inclination and rotation on the discharge coefficient. Both the experimental and numerical results confirm that the incidence angle plays a major role in dictating the discharge coefficient of the rotating orifices.
Motoneuron Resistance to Apoptotic Cell DeathIn VivoCorrelates with the Ratio between X-Linked Inhibitor of Apoptosis Proteins (XIAPs) and Its Inhibitor, XIAP-Associated Factor 1
Authors: Perrelet Daniel , Perrin Florence E. , Liston Peter , Korneluk Robert G. , MacKenzie Alex , Ferrer-Alcon Marcel , Kato Ann C.
Published: April 2004

Apoptotic cell death occurs in motoneurons in the neonate but not in the adult after a lesion of a peripheral nerve. To investigate the molecular basis for this difference, we have analyzed the expression and localization of inhibitors of apoptosis proteins (IAPs) and their inhibitors X-linked IAP (XIAP)-associated factor 1 (XAF1), Smac/DIABLO, and Omi/HtrA2 in motoneurons at both ages. Quantitative immunohistochemical and immunoblotting analysis of these proteins in motoneurons revealed an increase in IAP expression [XIAP, neuronal apoptosis inhibitory protein, human IAP1 (HIAP1), and HIAP2] during postnatal development as opposed to XAF1, which decreased during the same period; there was no significant alteration in either Smac/DIABO or Omi/HtrA2. The regulation of IAPs and XAF1 varied after axotomy of the sciatic nerve; in the neonate, there was a significant loss of IAP in the injured motoneurons as opposed to the adult, in which there was only a moderate decrease. By overexpressing exogenous IAPs in neonatal axotomized motoneurons, it was possible to delay motoneuron cell death (Perrelet et al., 2000, 2002). In opposition, the overexpression of exogenous XAF1 in adult motoneurons totally abrogated the natural resistance of these cells to axotomy. The degradation in the adult, induced by XAF1, could be overcome by simultaneously expressing high levels of exogenous XIAP in adult motoneurons. These experiments suggest that it may be the ratio between XAF1 and XIAP that confers the resistance of adult motoneurons to axotomy. In addition, the regulation in the levels of IAPs and XAF1 may be essential in the cell death mechanism of injured motoneurons.
Dysmyelinated Lower Motor Neurons Retract and Regenerate Dysfunctional Synaptic Terminals
Authors: Yin Xinghua , Kidd Grahame J. , Pioro Erik P. , McDonough Jennifer , Dutta Ranjan , Feltri M. Laura , Wrabetz Lawrence , Messing Albee , Wyatt Ryan M. , Balice-Gordon Rita J. , Trapp Bruce D.
Published: April 2004

Axonal degeneration is the major cause of permanent neurological disability in individuals with inherited diseases of myelin. Axonal and neuronal changes that precede axonal degeneration, however, are not well characterized. We show here that dysmyelinated lower motor neurons retract and regenerate dysfunctional presynaptic terminals, leading to severe neurological disability before axonal degeneration. In addition, dysmyelination led to a decreased synaptic quantal content, an indicator of synaptic dysfunction. The amplitude and rise time of miniature endplate potentials were also increased, but these changes were primarily consistent with an increase in the passive membrane properties of the transgenic muscle fibers. Maintenance of synaptic connections should be considered as a therapeutic target for slowing progression of neurological disability in primary diseases of myelin.
The Repulsive Guidance Molecule RGMa Is Involved in the Formation of Afferent Connections in the Dentate Gyrus
Authors: Brinks Henriette , Conrad Sabine , Vogt Johannes , Oldekamp Judit , Sierra Ana , Deitinghoff Lutz , Bechmann Ingo , Alvarez-Bolado Gonzalo , Heimrich Bernd , Monnier Philippe P. , Mueller Bernhard K. , Skutella Thomas
Published: April 2004

In the developing dentate gyrus, afferent fiber projections terminate in distinct laminas. This relies on an accurately regulated spatiotemporal network of guidance molecules. Here, we have analyzed the functional role of the glycosylphosphatidylinositol (GPI)-anchored repulsive guidance molecule RGMa.In situhybridization in embryonic and postnatal brain showed expression of RGMa in the cornu ammonis and hilus of the hippocampus. In the dentate gyrus, RGM immunostaining was confined to the inner molecular layer, whereas the outer molecular layers targeted by entorhinal fibers remained free. To test the repulsive capacity of RGMa, different setups were used: the stripe and explant outgrowth assays with recombinant RGMa, and entorhino–hippocampal cocultures incubated either with a neutralizing RGMa antibody (Ab) or with the GPI anchor-digesting drug phosphatidylinositol-specific phospholipase C. Entorhinal axons were clearly repelled by RGMa in the stripe and outgrowth assays. After disrupting the RGMa function, the specific laminar termination pattern in entorhino–hippocampal cocultures was lost, and entorhinal axons entered inappropriate hippocampal areas. Our data indicate an important role of RGMa for the layer-specific termination of the perforant pathway as a repulsive signal that compels entorhinal fibers to stay in their correct target zone.
Polymorphic Alu insertions in six Brazilian African‐derived populations
Authors: Cotrim Nelson Henderson , Auricchio Maria Teresa B.M. , Vicente João Pedro , Otto Paulo A. , Mingroni‐Netto Regina Célia
Published: April 2004

At least 25 African‐derived populations (quilombo remnants) are believed to exist in the Ribeira River Valley, located in the southern part of São Paulo State, Brazil. We studied four Alu polymorphic loci (APO, ACE, TPA25, and FXIIIB) in individuals belonging to six quilombo remnants in addition to individuals sampled from the city of São Paulo. The allelic frequencies observed in the quilombo remnants were similar to those previously observed in African‐derived populations from Central and North America. Genetic variability indexes (Fst and Gst values) in our quilombos were higher than the reported values for the majority of other populations analyzed for the same kind of markers, but lower than the variability usually observed in Amerindian groups. The observed high degree of genetic differentiation may be due to genetic drift, especially the founder effect. Our results suggest that these populations behave genetically as semi‐isolates. The degree of genetic variability within populations was larger than among them, a finding described in other studies. In the neighbor‐joining tree, some of the Brazilian quilombos clustered with the African and African‐derived populations (São Pedro and Galvão), others with the Europeans (Pilões, Maria Rosa, and Abobral). Pedro Cubas was placed in an isolated branch. Principal component analysis was also performed and confirmed the trends observed in the neighbor‐joining tree. Overall, the quilombos showed a higher degree of gene flow than average when compared to other worldwide populations, but similar to other African‐derived populations. Am. J. Hum. Biol. 16:264–277, 2004. © 2004 Wiley‐Liss, Inc.
Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies
Authors: Asamoah Alexnder , Nwankwo Martin , Kumar Savitri P. , Ezhuthachan Sudhakar G. , Van Dyke Daniel L.
Published: April 2004

We describe a male infant with intra‐uterine growth retardation and multiple congenital anomalies including prominent forehead, broad nasal bridge, hypertelorism, small upturned nose, flat philtrum, micrognathia, cleft hard palate, low‐set and posteriorly rotated ears, short neck, micropenis, hypoplastic scrotum with prominent raphe and undescended testes, malformed lower extremities with contractures, bony protruberance of left thigh, bilateral absence of the fibula, bilateral equinovarus deformity with missing 4th toe on the right foot and short second fingers, congenital heart defect, renal anomalies, brain malformation, and bilateral choanal atresia. He was born at term by cesarean section because of breech presentation to a 19‐year‐old gravida 2 para 1 African‐American female who had no prenatal care. He was admitted to the NICU because of low birth weight, respiratory distress, rule out sepsis and multiple congenital anomalies. Birth weight was 1,475 g, birth length was 33.8 cm, and head circumference was 30 cm. He expired at 5.5 weeks of age. The parents declined a request for autopsy. Chromosome analysis on blood showed that his karyotype was 46,XY,del(8)(q11.23q13.3). FISH studies for 22q deletion were normal. Parental karyotypes were normal. There is a paucity of reported patients with this specific chromosome disorder and this boy appears to be severely affected compared with the few published cases. A gene on chromosome 8q may be involved in limb development. © 2003 Wiley‐Liss, Inc.
Association between 7q31 markers and tourette syndrome
Authors: Díaz‐Anzaldúa Adriana , Joober Ridha , Rivière Jean‐Baptiste , Dion Yves , Lespérance Paul , Chouinard Sylvain , Richer Francois , Rouleau Guy Armand ,   the Montreal Tourette Syndrome Study Group
Published: April 2004

Tourette syndrome (TS) is a complex neuropychiatric disorder with a strong genetic basis. Although no specific susceptibility genes have been identified for TS, cytogenetic studies in selected cases suggest the existence of a predisposing gene located in the 7q31 chromosomal region. In order to test the hypothesis of a possible relationship between this region and TS at the population level, we undertook a family based association study in a sample of French Canadian patients from Quebec. For this purpose, markers D7S522, D7S523, and D7S1516 were tested using the extended transmission disequilibrium test (e‐TDT). Marker D7S522 showed a biased transmission of alleles from heterozygote parents to their TS offsprings (allele‐wise TDT χ2 = 12.61, 4 df,P = 0.013, genotype‐wise TDT χ2 = 15.49, 7 df,P = 0.030). When the analysis was restricted to patients without ADHD or OCD comorbidity, similar results were observed both allele and genotype‐wise (χ2 = 10.68, 4 df,P = 0.03 and χ2 = 12.55, 5 df,P = 0.028, respectively). In addition, marker D7S523 was also associated (allele‐wise TDT χ2 = 18.37, 7 df,P = 0.01 and genotype‐wise TDT χ2 = 46.26, 17 df,P = 0.00016), and showed a tendency for association in the comorbidity‐free subgroup (genotype‐wise TDT χ2 = 18.7, 10 df,P = 0.044). Finally, marker D7S1516, contained in the inner mitochondrial membrane peptidase 2 like (IMMP2L) gene, also showed a tendency for association (genotype‐wise TDT χ2 = 32.87, 21 df,P = 0.048). These results may reflect the proximity of markers D7S522, D7S523, and possibly D7S1516 to a gene or regulatory region relevant to TS predisposition. © 2003 Wiley‐Liss, Inc.
Relation between oculo‐auriculo‐vertebral (OAV) dysplasia and three other non‐random associations of malformations (VATER, CHARGE, and OEIS)
Authors: Källén Karin , Robert Elisabeth , Castilla Eduardo E. , Mastroiacovo Pierpaolo , Källén Bengt
Published: April 2004

Using a statistical methodology, we aimed to identify a group of probable cases of oculo‐auriculo‐vertebral (OAV) dysplasia and to investigate possible relationships between different patterns of congenital malformations. Among 5,260 infants with multiple malformations collected from 4 large registers of congenital malformations, we identified 312 probable OAV cases. With the same technique, we have earlier defined epidemiological delineations of three other well‐known non‐random associations of congenital malformations (CHARGE, VATER, and OEIS). We found convincing relationships between OAV and VATER or CHARGE but none between OAV and OEIS or between the three malformation complexes CHARGE, VATER, and OEIS. An association between two conditions indicates similarities in pathogenesis or in etiology. We suggest that the connection between OAV and CHARGE could be related to a common pathogenetic mechanism: disturbed neural crest development. © 2003 Wiley‐Liss, Inc.
Ablepharon‐macrostomia syndrome in a 46‐year‐old woman
Authors: Brancati Francesco , Mingarelli Rita , Sarkozy Anna , Dallapiccola Bruno
Published: April 2004

Ablepharon‐macrostomia syndrome (AMS) is a rare condition reported to date in 13 patients worldwide. AMS is characterized by absent or short eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. Additional features include alopecia or sparse hair, hypoplastic malar region, redundant skin, rudimentary nipples, abnormal genitalia. While the AMS phenotype is well delineated in infants and children, clinical manifestations are rather poorly characterized in adulthood. Here, we report on an Italian woman who received a diagnosis of AMS at the age of 46 years after several surgical treatments. A clinical comparison between our patient and previously reported AMS cases aids in delineating the adult phenotype of AMS and further broadens the clinical spectrum of this condition. © 2004 Wiley‐Liss, Inc.
A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy
Authors: Kato Rumiko , Kawamura Jun , Sugawara Hirobumi , Niikawa Norio , Matsumoto Naomichi
Published: April 2004

Fukuyama‐type congenital muscular dystrophy (FCMD) is characterized by congenital muscular dystrophy in combination with central nervous system (CNS) abnormalities. Differential diagnosis of FCMD from Duchenne and Becker muscular dystrophies (DMD/BMD) or other types of congenital muscular dystrophy is occasionally difficult, because of their phenotypic similarity. The gene (FCMD) responsible for FCMD at 9q31 was isolated in 1998. In Japan, most FCMD‐bearing chromosomes (87%) have a 3‐kb retrotransposal insertion into the 3′‐untranslated region (UTR) of the gene that could be derived from a single ancestral founder. Nine non‐founder mutations have been identified in Japanese FCMD patients. Severe phenotype was significantly more frequent in patients who were compound heterozygotes for a point mutation and the founder mutation, than in homozygotes for the founder mutation. We developed a PCR‐based diagnostic method for a rapid detection of the retrotransposal insertion mutation. Using this system, we screened 18 FCMD patients, and found 16 homozygotes and two heterozygotes for the insertion. We also evaluated the carrier frequency in the normal Japanese population. Six of 676 persons were recognized as a heterozygous carrier. Furthermore, we found three homozygotes for the FCMD founder mutation among 97 patients who had been said to have probable DMD/BMD without any DMD mutations. On the other hand, there were no FCMD homozygotes but four heterozygous carriers among 335 patients with DMD mutations. The diagnostic method we developed will provide a rapid and reliable diagnosis of FCMD, which can bring important information in genetic counseling, such as the accurate mode of inheritance, recurrence risk and a life expectancy. © 2004 Wiley‐Liss, Inc.
A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type
Authors: Faiyaz‐Ul‐Haque Muhammad , Zaidi Syed Hassan Ejaz , Al‐Ali Mariam , Al‐Mureikhi Mariam S. , Kennedy Shelley , Al‐Thani Ghalia , Tsui Lap‐Chee , Teebi Ahmad Said
Published: April 2004

The Ehlers–Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. Several genes have been implicated to result in EDS phenotypes. The progeroid type of EDS is characterized by wrinkled, loose skin on the face, curly fine hair, scanty eyebrows and eyelashes, in addition to the classical features of EDS. Here we describe two similarly affected individuals in two sibships of a large consanguineous family from Qatar. DNA samples from affected and unaffected members of the family were analyzed for homozygosity of polymorphic markers associated with genes that have been implicated in EDS. Among 28 markers analyzed, homozygosity was only observed for D5S469 and D5S2111, which were markers for galactosyltransferase‐I (B4GALT7) located on chromosome 5q35.2, where the previously reported progeroid‐like variant of EDS has been mapped. Exons harboring the coding regions and exon–intron junctions of B4GALT7 were amplified by PCR and examined for mutations. A homozygous misssense C to T substitution at nucleotide 808 in the coding region was discovered in both affected individuals. The carrier parents were heterozygous for this mutation, which was not found among 76 DNA samples from control individuals of the same ethnicity. Segregation of this novel mutation in the family further confirmed the allelic variant and its recessive mode of inheritance in this type of EDS. The C to T substitution results in an arginine to cysteine change at amino acid residue 270 that is located in the catalytically active extracellular C‐terminal domain. This change could result in abnormal protein folding and/or aberrant interactions of mutated galactosyltransferase‐I with other extracellular matrix proteins leading to the development of a progeroid‐like phenotype in affected individuals. © 2004 Wiley‐Liss, Inc.
A 3‐bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia
Authors: Yoshida Rie , Miyata Masafumi , Nagai Toshiro , Yamazaki Toshio , Ogata Tsutomu
Published: April 2004

A de novo 3‐bp deletion (179–181delGTG) was identified at exon 3 of the PTPN11 gene in a female infant with severe Noonan phenotype including hydrops fetalis and juvenile myelomonocytic leukemia. Since the 3‐bp deletion is predicted to result in loss of the 60th glycine in the N‐SH2 domain that is directly involved in the intramolecular interaction between the N‐SH2 and the PTP domains of the PTPN11 protein, this mutation would disrupt the N‐SH2/PTP binding in the absence of a phosphopeptide, leading to an excessive phosphatase activity. The results expand the spectrum of PTPN11 mutations in Noonan syndrome (NS), and suggest that a PTPN11 mutation leads to a wide range of clinical features of Noonan syndrome. © 2004 Wiley‐Liss, Inc.
New onset focal weakness in children with Down syndrome
Authors: Worley Gordon , Shbarou Rolla , Heffner Amy N. , Belsito Karin M. , Capone George T. , Kishnani Priya S.
Published: April 2004

New onset focal weakness is relatively common in patients with Down syndrome (DS), and has broad differential diagnosis. Ten cases of new onset focal weakness in patients with DS were encountered or are currently being followed in two DS clinics, with a combined population of patients of approximately 850, for a clinic population prevalence of 1.2%. The median age at presentation was 4 years old (range 1 month–44 years). The causes of new onset focal weakness were: stroke from Moyamoya disease (two patients); stroke from vaso occlusive disease (one patient); stroke from venus sinus thrombosis (one patient); traumatic subdural hematoma (one patient); brain abscess (one patient); spinal cord injury (SCI) from cervical spinal stenosis (two patients); SCI from atlantoaxial instability (AAI) (one patient); and brachial plexus injury (one patient). Of the 10 patients with focal weakness, 8 had potentially treatable conditions, and 5 had surgery. The differential diagnosis of new onset focal weakness in DS is broad, with diseases reported involving all levels of the nervous system from brain to muscle. For some diagnoses, expeditious diagnosis may improve outcome. © 2004 Wiley‐Liss, Inc.
Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]
Authors: Yatsenko Svetlana A. , Sahoo Trilochan , Rosenkranz Melinda , Mendoza‐Londono Roberto , Naeem Rizwan , Scaglia Fernando
Published: April 2004

We report a case of an X;1 translocation in a 9‐month‐old female infant with mild dysmorphic features and developmental delay. High‐resolution chromosome analysis revealed a de novo, unbalanced translocation between chromosomes X and 1 [46,X,der(X),t(X;1)(q28;q32.1)]. Breakpoints on the derivative X and the size of the translocated segment have been defined by fluorescence in situ hybridization (FISH) with Xq and 1q specific probes. The rearrangement in this patient results in monosomy for Xq28‐qter and trisomy for 1q32.1‐qter. Replication studies demonstrated late replication of the derivative X in 80% of the observed cells, with the exception of 20% of the cells where X inactivation failed to spread into the translocated 1q segment. Patients with pure trisomy for the distal segment of 1q present a considerably more severe phenotype compared to that seen in our patient, including facial dysmorphisms, urogenital and cardiac anomalies. We suggest that the absence of many of the characteristic features for trisomy 1q in our patient, may reflect a mosaic pattern of inactivation of the translocated autosomal segment on the derivative X chromosome. © 2004 Wiley‐Liss, Inc.
DRD2 −141C insertion/deletion polymorphism is not associated with schizophrenia: Results of a meta‐analysis
Authors: Glatt Stephen J. , Faraone Stephen V. , Tsuang Ming T.
Published: April 2004

The gene DRD2, which codes for dopamine receptor D2, has been considered a prime candidate for allelic association testing with schizophrenia based on the strong evidence for involvement of this protein in disease pathophysiology. Recent meta‐analyses confirmed a small but reliable association between schizophrenia and the cysteine‐coding allele of the Cys311Ser polymorphism of DRD2. In the present study, we sought to determine if another polymorphism (the −141C insertion/deletion) in the same gene, which has been reported to be associated with schizophrenia in several individual studies, would show a similar pattern of association with the disease in a pooled dataset. The pooled odds ratio for the insertion allele obtained from 10 case‐control studies was 1.1, which was not significant (P = 0.580); however, there was marked heterogeneity among the findings of individual studies, suggesting that some underlying factor influenced the size of their observed effects. Yet, neither ethnicity, the age of the control group, nor the gender composition of the samples reliably influenced effect size. Because linkage disequilibrium patterns between various DRD2 polymorphisms are not yet known, it remains possible that divergent meta‐analytic findings at both commonly examined mutation sites within DRD2 are accurate. Haplotype analysis within this gene would be useful for definitively specifying the role of this gene in the etiology of schizophrenia. © 2004 Wiley‐Liss, Inc.
An association study of a polymorphism in the heparan sulfate proteoglycan gene (perlecan, HSPG2) and Alzheimer's disease
Authors: Rosenmann Hanna , Meiner Zeev , Kahana Esther , Aladjem Zoja , Friedman Gideon , Ben‐Yehuda Arie , Grenader Tal , Wertman Eli , Abramsky Oded
Published: April 2004

Accumulating evidence indicates that the heparan‐sulfate‐proteoglycan (perlecan, HSPG2), as well as other specific proteoglycans, are involved in amyloidogenesis and tau aggregation in Alzheimer's disease (AD). Moreover, the HSPG2 is located on chromosome 1p36, a region of linkage to late‐onset AD (LOAD). These two criteria, pathological and positional, make the HSPG2 an interesting candidate for an association with AD. We performed a case‐control association study between the common intron 6 BamHI polymorphism at a region of putative heparan‐sulfate (HS) attachment sites in the HSPG2 gene and sporadic AD in Jews. No association was detected with AD, neither as a risk factor nor as a modifier gene affecting the age at disease onset and disease progression. In addition, no interactive effect was found with the known risk factor for AD, the apolipoprotein E (APOE) ε4. These findings show no evidence for association between HSPG2 intron 6 BamHI polymorphism and AD in our population. © 2004 Wiley‐Liss, Inc.
Polymorphisms in the MAOA, MAOB, and COMT genes and aggressive behavior in schizophrenia
Authors: Zammit Stanley , Jones Gaynor , Jones Susan J. , Norton Nadine , Sanders Robert D. , Milham Charis , McCarthy Geraldine M. , Jones Lisa A. , Cardno Alastair G. , Gray Marion , Murphy Kieran C. , O'Donovan Michael C. , Owen Michael J.
Published: April 2004

Some studies have reported associations between COMT and MAO genotypes and aggression, though results have been inconsistent. We examined the relationship between Overt aggression scale (OAS) scores, and both MAOA and MAOB polymorphisms in a well‐powered sample of 346 subjects with schizophrenia. We also examined COMT in a Stage II replication sample of 150 individuals, and combined these results with our previously reported (Stage I) findings for COMT. We found no evidence of any associations between OAS ratings and any of the polymorphisms investigated under different genetic models. There was no evidence of epistatic interaction between MAOA and COMT on OAS scores. These results fail to support the theory that functional polymorphisms within the MAOA, MAOB, or COMT genes, as determinants of catecholamine enzymatic activity, are risk factors for aggressive behavior. © 2004 Wiley‐Liss, Inc.
Circular dichroism of prophenol oxidase in relation to the structural stability in Drosophila melanogaster
Authors: Asada Nobuhiko , Namba Masayoshi , Kodama Takashi , Kyogoku Yoshimasa
Published: April 2004

Circular dichroism (CD) of purified Drosophila melanogaster prophenol oxidase has been measured in the range of 195–245 nm. So far, few investigations about the interaction on higher‐order structures have been performed. CD spectra of Drosophila prophenol oxidase with 2‐propanol activator showed fluctuation of α‐helices. At a high temperature of 80°C, prophenol oxidase was partially denatured. However, it showed reversible recovery by renaturation after returning to low temperature at 30°C. The conformational changes and reversible denaturation‐renaturation interaction of the prophenol oxidase protein are discussed. Arch. Insect Biochem. Physiol. 56:1–6, 2004. © 2004 Wiley‐Liss, Inc.
Hyphantria cunea ferritin heavy chain homologue: cDNA sequence and mRNA expression
Authors: Kim Hong Ja , Yun Chi Young , Cheon Hyang Mi , Chae Boa , Lee In Hee , Park Seun Ja , Kang Young Jin , Seo Sook Jae
Published: April 2004

We have sequenced a cDNA clone encoding a 26‐kDa ferritin subunit, which was heavy chain homologue (HCH), in fall webworm, Hyphantria cunea. The HCH cDNA was obtained from the screening of a cDNA library using a PCR product. H. cunea ferritin is composed of 221 amino acid residues and their calculated mass is 26,160 Da. The protein contains the conserved motifs for the ferroxidase center typical for heavy chains of vertebrate ferritin. The iron‐responsive element sequence with a predicted stem‐loop structure is present in the 5′‐untranslated region of ferritin HCH mRNA. The sequence alignment of ferritin HCH shows 68.9 and 68.7% identity with Galleria mellonella HCH (26 kDa ferritin) and Manduca sexta HCH, respectively. While G type insect ferritin vertebrate light chain homologue (LCH) is distantly related to H. cunea ferritin HCH (17.2–20.8%), the Northern blot analysis revealed that H. cunea ferritin HCH was ubiquitously expressed in various tissues and all developmental stages. The ferritin expression of midgut is more responsive to iron‐fed, compared to fat body in H. cunea. Arch. Insect Biochem. Physiol. 56:21–33, 2004. © 2004 Wiley‐Liss, Inc.
Profiling catalase gene expression in Drosophila melanogaster during development and aging
Authors: Klichko Vladimir I. , Radyuk Svetlana N. , Orr William C.
Published: April 2004

Catalase represents one of the key antioxidant enzymes (AOE) in the metabolism of oxygen free radicals. A comprehensive analysis was brought to bear on establishing catalase gene expression profiles during development and aging, with the underlying objective being to identify potential regulatory factors. Expression of the catalase gene exhibits substantial variations during development and aging in a stage‐ and tissue‐specific manner. At the temporal level, previous observations of the coincidence of ecdysteroid pulses with peaks in catalase expression during developmental stages were largely corroborated. In adults, a small but significant decline in catalase expression was noted in adults as a function of age. Spatially, it was ascertained that catalase expression is mostly confined to tissues related to intermediary metabolism, digestive and adipose systems as well as oenocytes. By combining histochemical analysis of reporter gene expression with immunostaining of the endogenous product, it was possible to identify putative positive and negative regulatory elements that control catalase expression. Finally, when adult flies were subjected to various environmental insults, such as heat, paraquat, hyperoxia and H2O2, no significant responses were observed, suggesting that catalase gene expression is largely governed by intrinsic genetic programs. Arch. Insect Biochem. Physiol. 56:34–50, 2004. © 2004 Wiley‐Liss, Inc.
Surface enhanced Raman scattering of a lipid Langmuir monolayer at the air–water interface
Authors: Mangeney C. , Dupres V. , Roche Y. , Felidj N. , Levi G. , Aubard J. , Bernard S.
Published: April 2004

Surface enhanced Raman spectra were recorded from a phospholipid monolayer directly at the air–water interface. We used an organized monolayer of negatively charged tetramyristoyl cardiolipins as a template for the electrochemical generation of silver deposits. This two‐dimensional electrodeposition of silver under potentiostatic control was the substrate for enhancement of Raman spectra. We report the optimized conditions for the Raman enhancement, the microscopic observations of the deposits, and their characterization by atomic force microscopy. Laser excitation at 514.5 nm leads to intense and reproducible surface enhanced Raman scattering spectra recorded in situ from one monolayer of cardiolipin, using 0.5 mol % of 10N nonyl acridine orange or 5 mol % of acridine in the film, and demonstrates the possibility of estimating the pH at the metal/phospholipidic film interface. © 2004 Wiley Periodicals, Inc. Biopolymers, 2004
Combined effect of electrical stimulation and cisplatin in HeLa cell death
Authors: Manabe Masafumi , Mie Masayasu , Yanagida Yasuko , Aizawa Masuo , Kobatake Eiry
Published: April 2004

The combined effect of electrical stimulation and cisplatin administration on HeLa cells was investigated. The combination of electric potentials (−0.5 V to 0.5 V) with 10‐Hz frequency and 1000 ng/mL cisplatin decreased cancer cell viability by 32% and was more effective than either treatment given alone. Combined treatment with cisplatin and electrical stimulation also increased the number of apoptotic cells. It is shown that the efficacy of cisplatin was enhanced in electrically stimulated HeLa cells, and the addition of electrical stimulation amplified the chemotherapeutic effect of cisplatin in cervical cancer cells. © 2004 Wiley Periodicals, Inc.