bluuebunny/crossref_metadata_2025_split huggingface dataset:
Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression
Authors: Munoz‐Rojas Maria‐Veronica , Vieira Taiane , Costa Ronaldo , Fagondes Simone , John Angela , Jardim Laura Bannach , Vedolin Leonardo M. , Raymundo Marcia , Dickson Patricia I. , Kakkis Emil , Giugliani Roberto 
Published: September 2008

AbstractIn mucopolysaccharidosis I, deficiency of α‐L‐iduronidase can cause spinal cord compression (SCC) due to storage of glycosaminoglycans (GAGs) within the cervical meninges. As intravenous enzyme replacement therapy (ERT) is not likely to provide enzyme across the blood–brain barrier, standard treatment for this complication is usually surgical, which has a high morbidity and mortality risk. We report on the use of intrathecal (IT) laronidase in a MPS I patient with SCC who refused the surgical treatment. Assessments were performed at baseline, with clinical and biochemical evaluations, 4‐extremity somatosensory evoked potentials, 12 min walk test and MRI studies of the CNS. Changes on these parameters were evaluated after 4 IT infusions of laronidase administered monthly via lumbar puncture. To our knowledge, this was the first MPS patient who received IT ERT. No major adverse events were observed. There were no clinically significant changes in serum chemistries. CSF GAG results revealed pretreatment values slightly above normal standards: 13.3 mg/L (NV < 12 mg/L) which after IT laronidase infusions were within normal levels (10.3 mg/L). 12MWT presented a 14% improvement, with better performance on stability and gait control. Maximum voluntary ventilation showed 55.6% improvement considering the percentage of predicted (26.7% at baseline compared to 41.9%); Maximum Inspiration Pressure improved 36.6% of predicted (26.8% at baseline to 36.7%); Pulmonary diffusion improved 17.6% of predicted %. In conclusion, although the improvement observed in this case with IT laronidase should be confirmed in further patients, this procedure seems to be a safe treatment for SCC in MPS I. © 2008 Wiley‐Liss, Inc.
Laurin–Sandrow syndrome: Review and redefinition
Authors: Mariño‐Enríquez Adrián , Lapunzina Pablo , Omeñaca Félix , Morales Carmen , Rodríguez José I. 
Published: September 2008

AbstractWe report on a newborn infant with characteristics of Laurin–Sandrow syndrome (LSS). She had hypertelorism, flat nose with grooved collumella, “V” shaped mouth with thin lips, 7 well‐recognized and fused digits and 1 additional postaxial bilateral appendix on each hand. The right and left feet had 12 and 11 toes, respectively, the 4 external ones were recognizable, and the rest were fused in a uniform mass but with independent nails. There was also a 2.3 cm‐long digitiform appendix in the internal part of both feet. Radiographs showed seven metacarpals and seven metatarsals with similar morphology; both hands lacking thumbs. The four lateral‐most toes had regular shaped phalanges and the rest were irregular. The left digitiform appendix had three bones and the right only two. Tibiae were shorter than fibulae. Central Nervous System examination showed an abnormally shaped olivary nucleus, cerebellar cortical heterotopias, gray matter ectopias in both spinal cord and hemispheric white matter, marked ventricular dilatation, and moderate diffuse white matter gliosis. Karyotype was 46XX. A complete necropsy study is presented and all reported cases are reviewed focusing on their phenotypic differences and their nosologic classification. We propose the entity LSS only in cases with symmetric tetramelic polysyndactyly, especially cup‐shaped hands and mirror feet, in association with nasal anomalies. © 2008 Wiley‐Liss, Inc.
Genotype–phenotype correlations in Rubinstein–Taybi syndrome
Authors: Schorry E.K. , Keddache M. , Lanphear N. , Rubinstein J.H. , Srodulski S. , Fletcher D. , Blough‐Pfau R.I. , Grabowski G.A. 
Published: September 2008

AbstractRubinstein–Taybi syndrome (RTS) is a rare multiple congenital anomaly/intellectual impairment syndrome. Loss of function in CREBBP or EP300 genes has been found in about 50% of patients with RTS. Genotype–phenotype correlations were investigated in 93 patients meeting diagnostic criteria for RTS during 2 international RTS family conferences. Mutation analysis of CREBBP was performed on all 31 coding exons and exon–intron junctions; a subset of patients had FISH analysis for large deletions. A total of 64 different variations were observed in the DNA sequence, and determined to be definitive mutations in 52 patients (56%). Mutations detected included: 10 missense mutations; 36 truncating or splice‐site mutations; and 6 large deletions detectable by FISH. Fourteen patients had synonymous changes of unknown significance. The majority of mutations affected the HAT domain of CREBBP or predicted termination of the protein before the HAT region. Extensive phenotypic data were collected on each patient and analyzed to determine correlations with mutation types, that is, truncating, large deletions, single amino acid substitutions, or no CREBBP mutation. All four groups displayed the characteristic facial and thumb dysmorphology. Growth retardation in height and weight was seen more frequently in patients with no CREBBP mutation; seizure disorder was more frequent in those with CREBBP mutations. Degree of mental retardation was similar in all groups, although there was a trend toward lower IQ and autistic features in patients with large deletions. Similarity in phenotype between the groups implies that the several genes involved in causing RTS likely have effects through the same pathway. © 2008 Wiley‐Liss, Inc.
BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia
Authors: Rigelsky Christina M. , Jennings Constance , Lehtonen Rainer , Minai Omar A. , Eng Charis , Aldred Micheala A. 
Published: September 2008

AbstractPulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT) are distinct clinical entities caused by germline mutations in genes encoding members of the TGFβ/BMP superfamily: BMPR2 in PAH and ACVRL1, ENG, or SMAD4 in HHT. When PAH and HHT occasionally co‐exist within the same family, ACVRL1 mutations predominate. We report a 36‐year‐old woman initially diagnosed with PAH at age 24. At 35, following massive hemoptysis, multiple pulmonary arteriovenous malformations were discovered, prompting evaluation for HHT. She met the Curaçao diagnostic criteria for suspected HHT based on additional findings of nasal telangiectases and epistaxis. Mutation analysis of ACVRL1, ENG, and SMAD4 was normal, but a germline nonsense mutation in BMPR2 was identified. This is the first known report of HHT features, particularly pulmonary AVMs, associated with a BMPR2 mutation. It adds further weight to a common molecular pathogenesis in PAH and HHT, and highlights that BMPR2 gene analysis is indicated in patients affected with both HHT and PAH. © 2008 Wiley‐Liss, Inc.
High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenita
Authors: Hinek Aleksander , Jain Shailly , Taylor Glenn , Nykanen David , Chitayat David 
Published: September 2008

AbstractCutis marmorata telangiectatica congenita (CMTC) is a rare cutaneous vascular disease presenting at birth with levido reticularis, phlebectasia, and telangiectasia, often accompanied by skin ulcerations. Extra‐dermal vascular anomalies can be also detected in 30–70% of described cases. The pathomechanism responsible for development of these phenotypic changes is not well understood. Here, we report on a 16‐month‐old boy with CMTC, generalized vascular abnormalities and severe, nitric oxide sensitive, pulmonary hypertension associating with markedly elevated level of blood copper. Results of laboratory investigations indicated that primary cultures (passage one) of dermal fibroblasts derived from this patient were capable of normal synthesis of tropoelastin, but their net deposition of mature elastic fibers was significantly diminished as compared with cultures of normal fibroblasts. Because the low net deposition of elastin was reversed when 1 mg/ml of α1‐antitrypsin was added to the media, we conclude that heightened elastolysis by endogenous serine proteinase's is responsible for the low net elastogenesis by CMTC fibroblasts. Since simultaneous addition of 30 µM CuSO4 and 1 mg/ml α1‐antitrypsin abolished the beneficial effect of this serine proteinase's inhibitor, we concluded that this may be due to copper‐dependent inactivation of α1‐antitrypsin. Our data suggest that a high level of free copper may constitute a major triggering factor contributing to the development of the CMTC phenotype. © 2008 Wiley‐Liss, Inc.
Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients
Authors: Schell‐Apacik Chayim Can , Wagner Kristina , Bihler Moritz , Ertl‐Wagner Birgit , Heinrich Uwe , Klopocki Eva , Kalscheuer Vera M. , Muenke Maximilian , von Voss Hubertus 
Published: September 2008

AbstractAgenesis of the corpus callosum (ACC) is among the most frequent human brain malformations with an incidence of 0.5–70 in 10,000. It is a heterogeneous condition, for which several different genetic causes are known, for example, ACC as part of monogenic syndromes or complex chromosomal rearrangements. We systematically evaluated the data of 172 patients with documented corpus callosum abnormalities in the records, and 23 patients with chromosomal rearrangements known to be associated with corpus callosum changes. All available neuroimaging data, including CT and MRI, were re‐evaluated following a standardized protocol. Whenever feasible chromosome and subtelomere analyses as well as molecular genetic testing were performed in patients with disorders of the corpus callosum in order to identify a genetic diagnosis. Our results showed that 41 patients with complete absence (agenesis of the corpus callosum—ACC) or partial absence (dysgenesis of the corpus callosum—DCC) were identified. Out of these 28 had ACC, 13 had DCC. In 11 of the 28 patients with ACC, the following diagnoses could be established: Mowat–Wilson syndrome (n = 2), Walker–Warburg syndrome (n = 1), oro‐facial‐digital syndrome type 1 (n = 1), and chromosomal rearrangements (n = 7), including a patient with an apparently balanced reciprocal translocation, which led to the disruption and a predicted loss of function in the FOXG1B gene. The cause of the ACC in 17 patients remained unclear. In 2 of the 13 patients with DCC, unbalanced chromosomal rearrangements could be detected (n = 2), while the cause of DCC in 11 patients remained unclear. In our series of cases a variety of genetic causes of disorders of the corpus callosum were identified with cytogenetic anomalies representing the most common underlying etiology. © 2008 Wiley‐Liss, Inc.
Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly
Authors: Ala‐Mello Sirpa , Siggberg Linda , Knuutila Sakari , von Koskull Harriet , Taskinen Mervi , Peippo Maarit 
Published: September 2008

AbstractThe oculoauriculovertebral anomaly (OAV) or Goldenhar syndrome is a malformation complex that has been described in several chromosomal rearrangements. Among them a deletion of the terminal 5p has recurred in seven previous patients. We wish to report on an additional such patient in order to reinforce the significance of this genomic region in the cause of at least a subgroup of OAV cases. Future studies, particularly in the OAV patients with a lateral facial cleft, might define one genetic background of the disorder. Our patient had a complex translocation chromosome 45,XX, inv(2) (q32q37)mat, dic(5;21) (p15.3;q22.3)dn, resulting in a terminal 5p deletion, a terminal deletion of 21q demonstrated by FISH studies, and a duplication of 21q22.11–q22.12 documented by molecular karyotyping. In addition to OAV she developed myelodysplasia treated with bone marrow transplantation. We discuss her clinical findings with reference to her karyotype findings and review the patients with OAV and a terminal deletion of 5p. © 2008 Wiley‐Liss, Inc.
Seizure frequency in adults with Wolf–Hirschhorn syndrome
Authors: Worthington Jeanie C. , Rigby Alan S. , Quarrell Oliver W. 
Published: September 2008

AbstractEpilepsy is a characteristic feature of Wolf–Hirschhorn syndrome (WHS) with onset usually in the first 2 years of life. There have been several reports of epilepsy ceasing as children get older. We have inspected a register of WHS cases from the UK and identified 27 adults with the condition; their mean age was 24.8 years (range 17–40 years). We conducted a telephone survey and asked parents to comment on their experience of seizures in WHS. In 18 patients (66%) a seizure had not occurred within 3 years. The mean age of those who have been seizure free for over 3 years was 23.7 years (range 17–33 years) whereas for those who had a recent seizure their mean age was 27.1 years (range 17–40 years). The mean age of the last seizure for those who were seizure free for 3 years was 11.3 years (range 2–28 years); in the majority of patients, seizures ceased within childhood years. Many parents commented that seizures were precipitated by fever. Individuals with WHS who had a deletion were more likely to be seizure free than those with a translocation. This reached statistical significance:χ2 = 4.6,P = 0.03, odds ratio = 6.5 (95% CI 1.1–38.6). Data from this survey may be helpful when counseling families with a very young child with WHS. © 2008 Wiley‐Liss, Inc.
Clinical and molecular‐cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an ∼5 Mb deletion del(11)(q24.3)
Authors: Bernaciak Joanna , Szczałuba Krzysztof , Derwińska Katarzyna , Wiśniowiecka‐Kowalnik Barbara , Bocian Ewa , Sąsiadek Maria Małgorzata , Makowska Izabela , Stankiewicz Paweł , Śmigiel Robert 
Published: September 2008

AbstractClinical manifestations of Jacobsen syndrome (JBS) depend on the size of the 11qter deletion, which usually varies between ∼7 and 20 Mb. Typical JBS features include developmental delay/mental retardation, short stature, congenital heart defects, thrombocytopenia, and characteristic dysmorphic facial features. We report on a family in which a 4‐year‐old girl as well as her mother and maternal uncle present with subtle features of JBS. Notably, neither thrombocytopenia nor congenital anomalies were detected in this family. Cytogenetic analyses revealed normal karyotypes. Using fluorescence in situ hybridization (FISH) and whole‐genome oligonucleotide array CGH analyses, we identified an ∼5 Mb deletion of the terminal part of chromosome 11q in all the three affected family members. The deletion breakpoint was mapped between 129,511,419 and 129,519,794 bp. This is the smallest deletion reported in a JBS patient. Interestingly, the FLI1 (friend leukemia virus integration 1) hematopoiesis factor gene located ∼6.5 Mb from 11qter and usually deleted in patients with JBS, is intact. Our data support previous hypotheses that FLI1 haploinsufficiency is responsible for thrombocytopenia in patients with JBS. © 2008 Wiley‐Liss, Inc.
Behavioural dynamics in the biological control of pests: role of silicon complexes
Authors: Belwal Savita , Fahmi Nighat , Singh R. V. 
Published: September 2008

AbstractThe complexes of silicon (IV) with Schiff base ligands (L1H and L2H of isatin derivatives) having a sulfur and oxygen donor system were prepared by the reactions in methanol environment. These were isolated and characterized by elemental analysis, molecular weight determinations and conductance measurements. On the basis of electronic, infrared, 1H, 13C and 29Si NMR spectral studies, trigonal bipyramidal geometry was suggested for the resulting complexes. These data support preferential binding of sulfur and oxygen atom to the silicon atom. The disease resistance activities of the ligands and their corresponding complexes were examined successfully in in vitro and in vivo experiments, against pathogenic fungi and bacteria. Results were quite encouraging and these were compared with the standard pesticides Bavistin and Streptomycin. Copyright © 2008 John Wiley & Sons, Ltd.
Pressure drop in three‐phase oil–water–gas horizontal co‐current flow: experimental data and development of prediction models
Authors: Spedding P. L. , Murphy Adrian , Donnelly G. F. , Benard E. , Doherty A. P. 
Published: September 2008

AbstractPressure‐loss data are reported for three‐phase oil–water–gas flow in horizontal pipes of 0.0259 and 0.0501 m i.d. The pressure profiles exhibited a maximum value above a critical gas rate, which progressively moved to higher oil ratios as the gas rate was increased due to increased turbulence within the system. The actual pressure‐drop profiles obtained depended mainly on the flow regimes present within the system. As the pipe diameter was reduced, the pressure drop was observed to increase for the same flow conditions. Above a critical gas rate the magnitude of the pressure drop was higher if approached for the oil‐dominated (OD) region compared to the opposite direction.A momentum‐balance model was proposed for prediction of the pressure drop, which gave improved performance over other existing methods. Copyright © 2008 Curtin University of Technology and John Wiley & Sons, Ltd.
State estimation for time‐delay systems with probabilistic sensor gain reductions
Authors: He Xiao , Wang Zidong , Zhou D. H. 
Published: September 2008

AbstractThis paper presents a new state estimation problem for a class of time‐delay systems with probabilistic sensor gain faults. The sensor gain reductions are described by a stochastic variable that obeys the uniform distribution in a known interval [α, β], which is a natural reflection of the probabilistic performance deterioration of sensors when gain reduction faults occur. Attention is focused on the design of a state estimator such that for all possible sensor faults and all external disturbances, the filtering error dynamic is asymptotically mean‐square stable as well as fulfils a prescribed disturbance attenuation level. The existence of desired filters is proved to depend on the feasibility of a certain linear matrix inequality (LMI), and a numerical example is given to illustrate the effectiveness of the proposed design approach. Copyright © 2008 Curtin University of Technology and John Wiley & Sons, Ltd.
Synthesis and characterization of polyaniline films using Fenton reagent
Authors: Ayad M. M. , Zaki E. A. 
Published: September 2008

AbstractThe chemical oxidation of aniline to form polyaniline (PANI) films and powder samples was made using Fenton reagent as an oxidizing agent in aqueous sulfuric acid medium. The PANI films were monitored by using the quartz crystal microbalance and the electronic absorption techniques. The optimum concentration was determined and the results were justified by measuring the UV–vis absorption spectra for the in situ PANI films. The conductivity for the PANI films and powder samples, prepared in different conditions, was measured. Also, the IR spectra, X‐ray and the thermogravimetric analysis for the PANI powder formed in the bulk were measured and compared with the polymer prepared using ammonium peroxydisulfate. A preliminary investigation to the dielectric properties of the polymer powder was measured and discussed. © 2008 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Effect of the ceramic particle size on the microstructure and dielectric properties of barium titanate/polystyrene composites
Authors: Dang Zhi‐Min , Zheng Yang , Xu Hai‐Ping 
Published: September 2008

AbstractExcellent dielectric properties are a key factor for the technology of capacitors. Some ceramics, such as barium titanate (BaTiO3 or BT), have high dielectric constants, although they are hard to process. Polymers that often display low dielectric permittivities are easy to fabricate into all kinds of shapes. So the preparation of one composite material consisting of polymer and ceramic particles may be an excellent solution for satisfying the processing requirements. In this study, fresh polystyrene (PS) was synthesized and subsequently used to prepare BT/PS composites with a ball‐grinding mixture technology. The microstructure and dielectric properties of the BT/PS composites at different frequencies and different temperatures were studied. The results show that the dielectric permittivities of the composites with BT with a particle diameter of approximately 700 nm (BT‐07) were obviously higher than those of the composites with BT with a particle diameter of approximately 100 nm (BT‐01) at the same concentration of BT. Moreover, the dielectric permittivities of the composites with BT‐01 displayed better stabilization than those made with BT‐07 at the different temperatures. © 2008 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Modification of dextran through the grafting of N‐vinyl‐2‐pyrrolidone and studies of physicochemical phenomena in terms of metal‐ion uptake, swelling capacity, and flocculation
Authors: Mishra Dinesh Kumar , Tripathy Jasaswini , Mishra Madan Mohan , Behari Kunj 
Published: September 2008

AbstractThe optimum conditions for grafting N‐vinyl‐2‐pyrrolidone onto dextran initiated by a peroxydiphosphate/thiourea redox system were determined through the variation of the concentrations of N‐vinyl‐2‐pyrrolidone, hydrogen ion, potassium peroxydiphosphate, thiourea, and dextran along with the time and temperature. The grafting ratio increased as the concentration of N‐vinyl‐2‐pyrrolidone increased and reached the maximum value at 24 × 10−2 mol/dm3. Similarly, when the concentration of hydrogen ion increased, the grafting parameters increased from 3 × 10−3 to 5 × 10−3 mol/dm3 and attained the maximum value at 5 × 10−3 mol/dm3. The grafting ratio, add‐on, and efficiency increased continuously with the concentration of peroxydiphosphate increasing from 0.8 × 10−2 to 2.4 × 10−2 mol/dm3. When the concentration of thiourea increased from 0.4 × 10−2 to 2.0 × 10−2 mol/dm3, the grafting ratio attained the maximum value at 1.2 × 10−2 mol/dm3. The grafting parameters decreased continuously as the concentration of dextran increased from 0.6 to 1.4 g/dm3. An attempt was made to study some physicochemical properties in terms of metal‐ion sorption, swelling, and flocculation. Dextran‐g‐N‐vinyl‐2‐pyrrolidone was characterized with infrared spectroscopy and thermogravimetric analysis. © 2008 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Recovery prediction of thermally aged chloroprene rubber composite using deformation test
Authors: Choi Sung‐Seen , Han Dong‐Hun 
Published: September 2008

AbstractThe recovery prediction of chloroprene rubber (CR) composite from deformation was studied using the conventional compression set test and the circular deformation method to change a linear specimen into a circular shape. The CR composite was thermally aged at 60, 70, 80, 90, and 100°C for 1, 6, 15, and 30 days. The recovery was measured as a function of the measuring time (or releasing time) from the compressed or circular deformation. For the compression set test, because the recovery decreased and then increased as the measuring time elapsed, it was not reasonable to calculate the instantaneous recovery from the curve fitting equation. For the circular deformation method, the recovery was continuously increased by increasing the measuring time. The linear correlation for curve fitting was very high and the instantaneous recovery was obtained from the linear curve fitting equation. The half instantaneous recovery time at room temperature could be predicted from the experimental results of the accelerated thermal aging test. © 2008 Wiley Periodicals, Inc. J Appl Polym Sci, 2008