bluuebunny/crossref_metadata_2025_split huggingface dataset:
New case of thyroid dysgenesis and clinical signs of hypothyroidism in Williams syndrome
Authors: Bini Rita , Pela Ivana 
Published: April 2004

AbstractThe authors report a female presenting with congenital heart defects, liver hemangiomas, and facial dysmorphisms admitted to hospital at 3 months of age because of feeding difficulties and poor growth. She had hypotonia and large tongue, “coarse” face, and umbilical hernia in presence of complex congenital cardiovascular malformations. In spite of normal neonatal screening we performed serum levels of thyroid hormones. Thyrotropin level was very high (>50 μU/ml; normal value 0.2–4 μU/ml), while serum free T3 (FT3) and free T4 (FT4) levels were normal (FT3 3.6 pg/ml, normal value 2.8–5.6 pg/ml; FT4 11.6 pg/ml, normal value 6.6–14 pg/ml); antithyroid autoantibodies were absent. Thyroid scintigraphy with sodium 99m Tc pertechnetate showed a small ectopic thyroid located in sublingual position, so treatment with L‐thyroxine 37.5 μg/24 hr was started with rapid improvement of the clinical picture. At 17 months of age the patient developed the complete characteristic phenotype of Williams syndrome (WS); the clinical diagnosis was proven by fluorescent in situ hybridization (FISH) analysis which showed hemizygous deletion of the elastin gene on chromosome 7. Recently a case of thyroid hemiagenesis in a child with WS has been reported; our patient underscores the association of hypothyroidism and WS. Moreover, our case shows that clinical manifestations of hypothyroidism may be present and the treatment may be necessary as it is in isolated congenital hypothyroidism. © 2004 Wiley‐Liss, Inc.
Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships
Authors: Schram Aaltje , Kroes Hester Y. , Sollie Krystyna , Timmer Bert , Barth Peter , van Essen Ton 
Published: April 2004

AbstractWe present two families with sib recurrence of a phenotype which was originally diagnosed as fetal brain disruption sequence (FBDS). In the first family from the Hindu population of Surinam, two brothers were affected. In the second family of Dutch descent a brother and sister were affected. Periodic ultrasonic sound examinations of brain development of the girl in the second family appeared normal until 26 weeks of gestation after which progressive destruction of her brain was seen. Recurrence of the FBDS in a family is noteworthy as it is usually considered a sporadic disorder. Suggested causes in the literature are viral infections or early vascular interruption of the fetal brain with subsequent massive destruction of cerebral neurons. In 1995 the first familial case of FBDS was described, indicating a genetic cause. Recently Kavaslar et al. [2000: Am J Hum Genet 66:1705–1709.] found a locus on chromosome 16 in a large inbred Anatolian family with a phenotype resembling FBDS. Our experience and the literature show that the cause of the phenotype “FBDS” is heterogeneous. In case of sib recurrence the term FBDS should be avoided since a disruption sequence indicates an exogenous and sporadic cause of the disorder. © 2004 Wiley‐Liss, Inc.
Family‐based association study of schizophrenia with 444 markers and analysis of a new susceptibility locus mapped to 11q13.3
Authors: Yamada K. , Iwayama‐Shigeno Y. , Yoshida Y. , Toyota T. , Itokawa M. , Hattori E. , Shimizu H. , Yoshikawa T. 
Published: April 2004

AbstractFamily‐based linkage disequilibrium (LD) mapping has been suggested as a powerful and practical alternative to linkage analysis. We have performed a genome‐wide LD survey of susceptibility loci for schizophrenia in a Japanese population. We first typed 119 schizophrenic pedigrees (357 individuals) using 444 microsatellite markers, and analyzed the data using the pedigree disequilibrium test. This analysis revealed 14 markers demonstrating significant transmission distortion. To corroborate these findings, the statistical methods were changed to the extended transmission disequilibrium test (ETDT), using 80 independent complete trios (schizophrenic proband and both parents), with 68 derived from initial pedigrees and 12 newly recruited trios. ETDT supported two markers for continued association, D11S987 on 11q13.3 (P = 0.00009) and D16S423 on 16p13.3 (P = 0.002). We scrutinized the most significant genomic locus on 11q11‐13 by adding 26 new markers for analysis. Results of three‐marker haplotype analysis in the region showed evidence of association with schizophrenia (most significant haplotype P = 0.0005, global P = 0.022). Although the present study may have missed other potential genomic intervals because of the sparse mapping density, we hope that it has identified promising anchor points for further studies to identify risk‐conferring genes for schizophrenia in the Japanese population. In addition, we provide useful information on genomic LD structures in Japanese populations, which can be used for LD mapping of complex diseases. © 2004 Wiley‐Liss, Inc.
Adrenergic alpha 2C receptor genomic organization: Association study in adult ADHD
Authors: De Luca Vincenzo , Muglia Pierandrea , Vincent John B. , Lanktree Matthew , Jain Umesh , Kennedy James L. 
Published: April 2004

AbstractAttention deficit hyperactivity disorder (ADHD) is a chronic psychiatric condition in children and follow up studies have indicated that one to two thirds of patients continue to suffer from ADHD during late adolescence and adulthood. Pharmacological interventions, such as the new selective noradrenergic reuptake inhibitor, atomoxetine, suggest the adrenergic system as candidate in ADHD. We examined for the presence of linkage disequilibrium between the alpha 2C adrenergic receptor (ADRA2C) microsatellite polymorphism upstream of the ADRA2C gene and adult ADHD in a sample of nuclear families. We also present new information on the genomic organization of the ADRA2C locus. The microsatellite polymorphism was typed in 128 small families and analyzed using the Transmission Disequilibrium Test (TDT). There was no preferential transmission of any allele. These findings exclude a strong effect of this ADRA2C marker on risk for ADHD in our sample of adult proband families. © 2004 Wiley‐Liss, Inc.
The effects of chemical structure on the shear rheology of aliphatic polycarbonates
Authors: Thorat Sudhir D. , Phillips P. J. , Semenov Viktor , Gakh Andre 
Published: April 2004

AbstractAliphatic polycarbonates are a relatively new class of polymer, which are characterized by an instability at the functional group, which makes them easily degraded and capable of biodegradation; as such, they constitute a potentially powerful group of polymers for exploitation in green technology. Rheological properties in shear flow are presented for the seven following different aliphatic polycarbonate samples: polyethylene carbonate, polypropylene carbonate, linear pentene polycarbonate, linear hexene polycarbonate, linear octene polycarbonate, cyclohexene polycarbonate, copolymer of propylene oxide (20%), and cyclohexene oxide (80%), using parallel plate rheometry. No studies of the rheological properties of aliphatic polycarbonates have been reported in the literature to date. The steady‐state and the dynamic properties of these new polymers are investigated, and the resulting flow curves and the dynamic relaxation spectra of the aliphatic polycarbonate melts are presented. One of the major problems encountered in trying to characterize the melt rheology and relate behavior to the underlying molecular structure is the instability of the polymers. Because of this, a narrow processing window is present for each polymer, and it makes it impossible to compare all polymers at a constant temperature or range of temperatures in the melt. Nevertheless, some progress can be made. In all cases, the rheological response is discussed in terms of molecular characteristics, in particular, the length of the side chain and the molecular weight distribution. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 93: 534–544, 2004
Synthesis and properties of thermoplastic expandable microspheres: The relation between crosslinking density and expandable property
Authors: Kawaguchi Yasuhiro , Oishi Tsutomu 
Published: April 2004

AbstractA set of thermoplastic expandable microspheres was investigated with respect to their crosslinking density and expandable property. The crosslinking efficiencies of dipentaerythritol hexaacrylate in a set of thermoplastic expandable microspheres were measured. As expandable properties, expansion curves were measured by using a thermomechanical analyzer, and they also were shown by measuring the change of thickness of the coated compound consisting of ethylene–vinyl acetate copolymer resin emulsion and CaCO3 with thermoplastic microspheres on paper. In view of the expansion ratio and heat resistance, as crosslinking density, a swelling ratio of about 20–25 is needed to achieve optimum expansion without collapse and rupture of microspheres. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 93: 505–512, 2004
Solubilization of phthalocyanines into methanol with fluoroalkyl end‐capped N‐(1,1‐dimethyl‐3‐oxobutyl)‐ and N,N‐dimethyl‐acrylamide oligomers
Authors: Sasazawa Kazuo , Okitsu Isao , Aburatani Azusa , Kawase Tokuzo , Sawada Hideo 
Published: April 2004

AbstractSelf‐assembled molecular aggregates of fluoroalkyl end‐capped N‐(1,1‐dimethyl‐3‐oxobutyl)‐ and N,N‐dimethyl‐acrylamide oligomers in methanol were found to interact with phthalocyanines as guest molecules to exhibit good solubility. On the other hand, the corresponding nonfluorinated oligomers were not effective in solubilizing phthalocyanines under similar conditions. In these oligomers, fluorinated N‐(1,1‐dimethyl‐3‐oxobutyl)acrylamide oligomers were more effective in solubilizing phthalocyanines in methanol. Self‐assemblies formed by fluorinated oligomer‐phthalocyanine complexes are applied to the surface modifications of polystyrene (PS), and the modified PS surface exhibited not only a strong oleophobicity imparted by fluorine but also good hydrophilicity. Thus, these fluorinated molecular aggregate‐phthalocyanine systems are suggested to have high potential for new fluorinated functional materials through their excellent properties imparted by fluorine and phthalocyanines. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 93: 521–525, 2004
Effects of four supplemental instruction programs on students' learning of gross anatomy
Authors: Forester Joseph P. , Thomas Pamela P. , McWhorter David L. 
Published: April 2004

AbstractMany researchers have reported that supplemental instruction programs improve medical students' performance in various basic sciences. This study was conducted to evaluate the summative effects of four supplemental instruction programs (i.e., second‐year medical student teaching assistant program; directed study program; weekly instructor laboratory reviews; and a web‐based anatomy program) on medical students' gross anatomy laboratory practical performance. First‐year medical students from the graduating class of 2006 (n = 223) received the four supplemental instruction programs (Experimental Group). The Control Group consisted of first‐year medical students from the graduating class of 2005 (n = 254) who did not receive the four supplemental learning methods. Mann‐Whitney rank sum tests were used to compare the two groups' median percentages for the back‐upper limb (B‐UL) and the lower limb (LL) parts of a gross anatomy laboratory practical. The Experimental Group's median percentages for both the B‐UL (77.78%) and LL (83.33%) were significantly greater than that of the Control Group (B‐UL = 69.00%; LL = 81.00%; P < 0.05). Results from a post‐hoc student survey showed that more students both rated and ranked the weekly instructor laboratory reviews as extremely useful and most beneficial, respectively. A greater number of students rated and ranked the web‐based anatomy program as not useful and least beneficial, respectively. The results from this study suggest that the four supplemental instruction programs improved students' learning of gross anatomy as measured by laboratory practical performance. In addition, students most valued the additional time in the gross anatomy laboratory with the instructors. Clin. Anat. 17:322–327, 2004. © 2004 Wiley‐Liss, Inc.
Phase II study of temozolomide without radiotherapy in newly diagnosed glioblastoma multiforme in an elderly populations
Authors: Chinot Olivier‐L. , Barrie Maryline , Frauger Elisabeth , Dufour Henry , Figarella‐Branger Dominique , Palmari Jacky , Braguer D. , Hoang‐Xuan Khe , Moktari Karima , Peragut Jean‐Claude C. , Martin Pierre‐Marie M. , Grisoli François 
Published: April 2004

AbstractBACKGROUNDCurrently, the survival of patients age > 70 years with glioblastoma multiforme (GBM) ranges from 4 months to 6 months, although radiotherapy and/or chemotherapy may prolong survival in certain subgroups. Temozolomide is an oral chemotherapeutic agent with efficacy against malignant gliomas and a favorable safety profile. This open‐label, single‐center, Phase II study was designed to evaluate the efficacy and safety of temozolomide as first‐line chemotherapy and exclusive treatment in elderly patients with newly diagnosed GBM.METHODSChemotherapy‐naïve patients (age > 70 years) were treated with temozolomide at a dose of 150–200 mg/m2 per day for 5 consecutive days of a 28‐day cycle until they developed disease progression. No radiation therapy was administered. The primary endpoint was median overall survival (OS); secondary endpoints included progression‐free survival (PFS) and toxicity.RESULTSThirty‐two patients (median age, 75 years; median Karnofsky performance status, 70) experienced a median OS of 6.4 months and a median PFS of 5.0 months. Of 29 patients who were assessed for response, 9 patients (31%) achieved a partial response, 12 patients (41%) maintained stable disease, and 8 patients (28%) developed progressive disease. Adverse events primarily were mild, with NCI CTC Grade 3–4 thrombocytopenia and neutropenia reported to occur in 6% and 9% of patients, respectively. No neurotoxicity was observed. Treatment delays and dose reductions occurred in 13% and 14% of cycles, respectively.CONCLUSIONSTemozolomide represents a safe, easily administered, and effective therapeutic approach for elderly patients with newly diagnosed GBM. Cancer 2004. © 2004 American Cancer Society.
Gemcitabine and oxaliplatin in the treatment of patients with immunotherapy‐resistant advanced renal cell carcinoma
Authors: Porta Camillo , Zimatore Matteo , Imarisio Ilaria , Natalizi Anna , Sartore‐Bianchi Andrea , Danova Marco , Riccardi Alberto 
Published: April 2004

AbstractBACKGROUNDCurrently, there is no standard treatment for patients with advanced renal cell carcinoma (RCC) who do not experience a response to first‐line immunotherapy. In the current Phase II study, the authors explored the antitumor activity of a combination of gemcitabine and oxaliplatin (L‐OHP) in this setting.METHODSForty‐two patients with RCC who had progressive disease following immunotherapy received gemcitabine (1000 mg/m2 intravenously on Days 1 and 8 every 21 days) and L‐OHP (90 mg/m2 intravenously on Day 1 every 21 days) for a minimum of 2 cycles before responses were evaluated. Responses to treatment and toxicity were recorded according to the Response Evaluation Criteria in Solid Tumors and the National Cancer Institute Common Toxicity Criteria, respectively.RESULTSNo complete responses were recorded; however, 6 patients experienced a partial response (14.28%; 95% confidence interval, 5.43–28.5%), 11 patients (26.19%) had temporary stable disease as a best response, and the remaining 25 patients (59.52%) experienced progression despite receiving treatment. The median time to disease progression was 2.5 months (mean, 3.86 months; range, 1.5–11.0 months), whereas the median overall survival was 9.5 months (mean, 10.46 months; range, 4.0–22.5 months). With regard to toxicity, treatment generally was well tolerated, with only one episode of Grade 4 toxicity and expected episodes of Grade 3 toxicity, including myelosuppression and neuropathy.CONCLUSIONSThe current results suggest that the combination of gemcitabine and L‐OHP possesses a certain level of activity and an acceptable toxicity profile in patients with immunotherapy‐resistant advanced RCC. Cancer 2004. © 2004 American Cancer Society.
Increased NF‐κB activity in B cells and bone marrow‐derived dendritic cells from NOD mice
Authors: Wheat William , Kupfer Rene , Gutches Diane G. , Rayat Gina R. , Beilke Joshua , Scheinman Robert I. , Wegmann Dale R. 
Published: April 2004

AbstractType 1 diabetes results from the breakdown of peripheral tolerance. As regulators of T cell activation, antigen‐presenting cells (APC) modulate peripheral tolerance and hence contribute to theimmune dysregulation characteristic of insulin‐dependent diabetes mellitus (IDDM). We initially observed an increased importance of NOD B cell APC function in a T cell priming assay as compared to non‐autoimmune strains. Consistent with this increased APC function, we found that NF‐κB nuclear translocation is increased in unmanipulated NOD and NOD.B10Sn‐H2b B cells and that, inaddition, NOD B cells are more sensitive to NF‐κB‐activating stimuli. We obtained similar results using NOD bone marrow‐derived dendritic cell (BMDC) cultures. As costimulatory molecules havebeen shown to be NF‐κB responsive, we examined the expression of these markers on NOD APC. Both B cells and BMDC expressed elevated levels of CD80 and CD40. Finally, NOD B cells provided better allostimulation than B cells from non‐autoimmune strains. Therefore, hyperactivation of NF‐κB and increased expression of CD80 and CD40 by NOD B cells and BMDC may be a contributing factor in the selection of effector T cells observed in IDDM.
Second Order Optical Nonlinearities of Copper(II) and Palladium(II) Complexes with N‐Salicylidene‐N′‐aroylhydrazine Tridentate Ligands
Authors: Borbone Fabio , Caruso Ugo , Centore Roberto , De Maria Antonella , Fort Alain , Fusco Michela , Panunzi Barbara , Roviello Antonio , Tuzi Angela 
Published: April 2004

AbstractThree new N‐salicylidene‐N′‐aroylhydrazines tridentate ligands have been prepared: N‐4‐diethylaminosalicylidene‐N′‐(4‐nitrocinnamoylhydrazine (L1), N‐4‐diethylaminosalicylidene‐N′‐4‐(2,4‐dinitrophenylethylidene)benzoylhydrazine (L2), N‐4‐diethylaminosalicylidene‐N′‐4‐(6‐nitro‐2‐benzoxazolyl)benzoylhydrazine (L3). From these ligands, mononuclear acentric complexes of Copper(II) and Palladium(II), with pyridine as further ligand, have been prepared and characterized, also by single‐crystal X‐ray analysis. These complexes show high second order nonlinear optical activity (EFISH, |µβ| up to 3000·10−48 esu, incident wavelength 1.907 μm). The properties of metallorganic polymers obtained by grafting commercial poly(4‐vinylpyridine) with ML1 fragment (M = CuII or PdII) are also reported. (© Wiley‐VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2004)
Accident history database: An opportunity
Authors: Mannan M. Sam , O'Connor T. Michael , West Harry H. 
Published: April 2004

AbstractThe Clean Air Act Amendments of 1990 mandated the development of regulations for the protection of workers, the public, and the environment from catastrophic releases and chemical plant accidents. As a result, the US Environmental Protection Agency (EPA) promulgated the Risk Management Program rule in June 1996. Approximately 66,000 regulated facilities are required to comply with all the requirements by June 1999 and submit a risk management plan to the EPA. Each risk management plan will contain amongst other things, a 5‐year accident history for the facility.The 5‐year accident history database scheduled to become available to the public sometime in 1999 is potentially a very large and useful database. This presents an opportunity for determining macroscopic as well as microscopic causal factors for chemical plant accidents and then implementing these determinations for solving the underlying problems. However, there are various issues and potential pitfalls that must be kept in mind. For example, data integrity, taxonomy of the database, and the wide differences in the 66,000facilities are issues that represent challenges that require some novel approaches. The authors present their experience in analyzing EPA's accidental release information program database. The experience will guide the analysis of the 5‐year accident history database, attempting to identify the situations that commonly result in accidental chemical releases.
Pulse‐energized wet tubular electrostatic precipitator for NOx emission control
Authors: Yang Chen‐Lu 
Published: April 2004

AbstractA tubular plasma reactor was used to evaluate the feasibility of oxidizing nitric oxide (NO) by corona discharge. The DC corona completely oxidized 115 ppm of NO to nitrogen dioxide (NO2) in an air stream at a voltage of 11 kV. The NO2 was further oxidized to nitrate at a voltage of 13 kV. In some cases, the residual NO2 in the effluents of the plasma reactor was removed quantitatively by absorption in aqueous causticsodium sulfite. The outlet concentrations of both NO and NO2 from the combined corona discharge and aqueous absorption system were beyond the detection limit of a chemiluminescent NOx analyzer. Both NO oxidation and NO2 absorption were confirmed in a pilot‐scale wet tubular electrostatic precipitator (WESP) that has a 4‐foot high corona discharge section and a 5‐foot high gas absorption section. The flue gas from the sewage sludge incinerator, containing 8 ppm NO and 78 ppm NO2, was tested in the system. The WESP was energized with a pulsed power supply to avoid premature spark‐over. In the plasma discharge section, 79% of the NO2 was reduced while virtually 100% of the NO was oxidized at a pulse voltage of 55 kV. The outlet concentration of NO2 from the absorption section was 2 ppm.
Metal leaching from MSW fly ash before and after chemical and thermal treatments
Authors: Iretskaya S. , Nzihou A. , Zahraoui C. , Sharrock P. 
Published: April 2004

AbstractMunicipal Solid Waste (MSW) incineration fly ash was collected in the industrial facilities in the city of Toulouse, equipped with recent gas scrubbing equipment which collects daily 15 t of lime treated fly ash. The fly ash contains a large proportion of water soluble chlorides, besides trace elements such as iron, zinc, titanium and copper. Presently, the fly ash is landfilled after a cement solidification process. Matrix stability and leaching behavior of heavy metals (Cd, Cu) from samples of doped MSW fly ash were examined before and after chemical and thermal treatments. A new phosphate process leading to hydroxylapatite formation is described. To evaluate it's performance as a stabilization process, cupric and cadmium ions were added as typical pollutant tracers and their distribution was studied as a function of different treatment parameters. The hydroxylapatite process used effectively removes chloride ions in the water extract and retains most of the added metal ions in the solid residues. Evaluation of this procedure as a cold process shows 50% reduction in leachable metal ions. Calcination of the solid residues at 900°C results in agglomerated particles with increased resistance to metal ion dissolution. This is attributed to heavy metal incorporation in the hydroxylapatite matrix formed during the thermal treatment. Thus, combined chemical and thermal treatments are efficient for heavy metal stabilization in MSW fly ash.