bluuebunny/crossref_metadata_2025_split huggingface dataset:
Coupling between homogeneous rate processes and fluid deformation rate: Brownian particle coagulation in a rapidly dilating solvent
Authors: Rosner Daniel E. , Arias‐Zugasti Manuel 
Published: April 2010

AbstractP. Curie's principle applied to an isotropic medium of arbitrary EOS does not preclude coupling between homogeneous (chemical,…) rate processes and local fluid dilation rate. Yet, practical examples of this coupling have largely remained unexplored. Using recently studied supercritical “antisolvent” (SAS) examples for precipitating high‐value particles (e.g., pharmaceuticals), we suggest that the characteristic dilation time tV of the swelling solvent can be small enough to noticeably reduce the operative coagulation rate “constant,” β. Moreover, we expect that this coupling can occur under conditions in which postnucleation Brownian coagulation must be accounted for in predicting the efficacy of such micron‐sized powder production methods. Accordingly, a rational approximate theory for this rate constant “correction factor,” β/β(0), is proposed here, emphasizing the applicable limit of continuum Brownian diffusion control. We also present a preliminary assessment of the particle size distribution (PSD) consequences of these “corrections,” implying strategies to reduce both mean particle size and PSD spread. Possible generalizations are indicated. © 2010 American Institute of Chemical Engineers AIChE J, 2011
Bortezomib plus intermediate‐dose dexamethasone and thalidomide in elderly untreated patients with multiple myeloma: A Chinese experience
Authors: Guo Hongfeng , Zhou Xin , Jiang Yuanqiang , Yang Guohua , Sun Chao , Zhuang Yun , Sun Hongli , Lu Mize , Qian Xifeng , Chen Feng , Mao Jingjue , Chen Heng , Xia Jun , Shen Yunfeng 
Published: April 2010

AbstractBortezomib has proven to be active in patients with multiple myeloma (MM), including elderly patients. The aim of this study was to evaluate the efficacy and toxicity of bortezomib in combination with intermediate‐dose dexamethasone (Dex) and thalidomide in untreated MM patients aged ≥65 years in a Chinese single center. In this study, 18 patients were treated with bortezomib at 1.3 mg/m2 IV on Days 1, 4, 8, and 11 and Dex at 20 mg/day IV on Days 1–4 and 8–11 simultaneously. Thalidomide at dose of 100 mg/day was given everyday. The mean number of cycles of bortezomib treatment was 2.06. Three patients (17%) achieved a complete response (CR), four (22%) a very good partial response (VGPR), and nine (50%) a PR, resulting in an overall response rate of 89%. The median time to response was 22 days (range 14–50 days). The duration of response was significantly longer in patients achieving a CR/VGPR with respect to those achieving only a PR (8.5 vs. 4.2 months, P = 0.03). Grade 3–4 toxicities occurring in patients comprised weakness, thrombocytopenia, diarrhea, infection, and neuropathy. Only one patient suffered from deep vein thrombosis. This preliminary experience in Chinese patients indicated that bortezomib‐Dex‐thalidomide is highly effective in elderly untreated patients with MM, even in patients with poor prognostic features. Am. J. Hematol. 2010. © 2010 Wiley‐Liss, Inc.
Genetic characterization of uniparental lineages in populations from Southwest Iberia with past malaria endemicity
Authors: Pereira Vânia , Gomes Verónica , Amorim António , Gusmão Leonor , João Prata Maria 
Published: April 2010

AbstractMalaria endemicity in Southwest Iberia afforded conditions for an increase of sickle cell disease (SCD), which in the region follows a clinal pattern toward the south, where foci of high prevalence were found. SCD distribution is associated with specific geographical areas, and therefore, its introduction into Iberia may be related to the migration of different populations. We have analyzed the variation of uniparental markers in Portuguese populations with high frequency of SCD—Coruche, Pias, and Alcacer do Sal—to evaluate if their present‐day pattern of neutral diversity could provide evidence about people inhabiting the area over different time periods. Two hundred and eighty‐five individuals were sampled in Coruche, Pias, and Alcacer do Sal. All were analyzed for the control region of mitochondrial DNA (mtDNA); males were additionally examined for Y‐chromosome markers. Results were then compared with data from other Portuguese and non‐Portuguese populations. In Coruche, the genetic profile was similar to the profile usually found in Portugal. In Alcacer do Sal, the frequency of sub‐Saharan mtDNA L lineages was the highest ever reported (22%) in Europe. In Pias, mtDNA diversity revealed higher frequencies of Mediterranean haplogroups I, J, and T than usually found in surrounding populations. The presence of Sub‐Saharan maternal lineages in Alcacer do Sal is likely associated with the influx of African slaves between the 15th and 19th centuries, whereas in Pias, the Mediterranean influence might be traced to ancient contacts with Greeks, Phoenicians, and Carthaginians, who established important trading networks in southern Iberia. Am. J. Hum. Biol. 22:588–595, 2010. © 2010 Wiley‐Liss, Inc.
Relationships between adiponectin, leptin, and blood lipids in physically active postmenopausal females
Authors: Jürimäe Toivo , Jürimäe Jaak , Leppik Aire , Tafeit Erwin , Kums Tatjana 
Published: April 2010

AbstractThe aim of this study was to investigate the possible relationships between adiponectin and leptin with blood lipids (CHOL, HDL‐C, LDL‐C, and TG) in physically active postmenopausal women. One hundred and thirty‐four physically active practicing gymnastics (2–3 times per week) women between the ages of 51 to 85 years participated in this cross‐sectional study. Body height, body mass, waist‐to‐hip circumference ratio (WHR), and BMI were used as anthropometrical parameters. Body composition parameters (fat%, fat mass, fat free mass) were measured by DXA. The fasting adiponectin, leptin, CHOL, HDL‐C, LDL‐C, and TG were measured. From the anthropometrical and body composition parameters, only WHR correlated significantly with adiponectin (r = −0.306). In addition, adiponectin correlated with TG (r = −0.277) and leptin (r = −0.381). Leptin was positively related to body mass (r = 0.261), and BMI (r = 0.274) from anthropometrical parameters and body fat% (r = 0.288) and fat mass (r = 0.298) from body composition variables. No relationships emerged between leptin and blood lipids. We found that there are some significant relationships between adiponectin, leptin and anthropometrical and body composition parameters in physically active postmenopausal females. From blood lipids, only TG correlated significantly with adiponectin. Am. J. Hum. Biol. 22:609–612, 2010. © 2010 Wiley‐Liss, Inc.
Polygenic inheritance of adolescent idiopathic scoliosis: A study of extended families in Utah
Authors: Ward Kenneth , Ogilvie James , Argyle VeeAnn , Nelson Lesa , Meade Mary , Braun John , Chettier Rakesh 
Published: April 2010

AbstractA heritability study of 69 extended Utah families with a history of adolescent idiopathic scoliosis (AIS) indicates that AIS is a polygenic, multifactorial condition. Each family reported a history of AIS within four generations; a total of 247 individuals were confirmed via X‐rays and medical records to have AIS. Coefficient of kinship was more than 25 standard deviations higher for these 69 families than for the general population. Excluding all probands and assuming autosomal dominant inheritance, 1,260 individuals over the age of 16 were determined to be at risk for AIS because they have a parent with AIS. Assuming 50% of these individuals carry the allele, estimated penetrance in at‐risk males is approximately 9%, and estimated penetrance in at‐risk females is approximately 29%. Recurrence risk in relatives decreases as the degree of relationship to the affected individual becomes more distant; however, the lowest recurrence risk calculated, for third‐degree relatives, is still an average of 9%, well above the general population's risk. Onset of AIS appears to be inherited separate from curve pattern and severity. In a study of phenotypes in 36 of the families, the affected individuals were consistent in either curve severity or curve pattern, but not both. It is unclear whether severity or pattern is more heritable, but it is possible that the location of the curve on the spine is the most heritable trait of the phenotype. The study demonstrates the genetic complexity of AIS, including the low penetrance of its cumulative alleles and variable expression. © 2010 Wiley‐Liss, Inc.
Immunohistochemistry in non‐immune hydrops fetalis: A single center experience in 79 fetuses
Authors: Bellini Carlo , Fulcheri Ezio , Rutigliani Mariangela , Calevo Maria Grazia , Boccardo Francesco , Campisi Corradino , Bonioli Eugenio , Bellini Tommaso , Hennekam Raoul C.M. 
Published: April 2010

AbstractThe objective of our study was to evaluate the usefulness of immunohistochemical (IHC) staining techniques in the etiological diagnosis of non‐immune hydrops fetalis (NIHF). The records of all 1,098 autopsies performed between January 1987 and May 2008, by the Division of Fetal Pathology of the University of Genoa, were reviewed and all 79 fetuses diagnosed with NIHF were re‐evaluated. Additional IHC staining using antibodies that specifically stain blood and lymph vessels (CD31, CD34, smooth muscle actin antibody, D2‐40) were performed. Results were compared to results from the literature. Our results showed that in 67/79 cases, evaluation by standard autopsy protocol led to an etiologic diagnosis. Furthermore, we were able to identify the pathogenetic mechanisms that eventually caused NIHF in 42/79 cases. Adding IHC staining to all evaluations identified the pathogenetic mechanism in a further 17 cases (total 59/79 cases). Lymphatic dysplasia was diagnosed by standard autopsy protocol in 1/79 (1.3%), while adding IHC staining resulted in 18/79 (22.8%) cases being diagnosed (P = 0.0001). The present rate of 22.8% of lymphatic dysplasia in non‐immune hydrops fetalis is significantly higher than reported in the literature (36/818 or 4.4%; P = 0.01). In conclusion, specific IHC staining techniques aimed at detecting lymphatic dysplasia are needed and should be mandatory in autopsies of fetuses with non‐immune hydrops fetalis. © 2010 Wiley‐Liss, Inc.
A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features
Authors: Koifman Arie , Feigenbaum Annette , Bi Weimin , Shaffer Lisa G. , Rosenfeld Jill , Blaser Susan , Chitayat David 
Published: April 2010

AbstractWe have identified by microarray‐based comparative genomic hybridization analysis (aCGH), a homozygous deletion of 8q24.3 [arr cgh 8q24.3(140,879,937 → 141,021,392)x0 mat pat] in a patient with dysmorphic facial features, dysgenesis of the corpus callosum, and severe mental retardation. The deletion was inherited from asymptomatic, consanguineous parents, each of them being heterozygous for the same deletion. The only gene known to map to this segment is the NIBP gene, and so far no clinical manifestations have been found in association with this gene mutation in homozygous or heterozygous state in humans. Our findings suggest that a homozygous deletion in the NIBP gene results in an autosomal recessive condition with multiple abnormalities and severe delay. In addition, the child inherited a 781‐kb deletion on 4q32.2 from the mother that contains the SPOCK3 gene. We suggest that this heterozygous deletion is likely to be non‐contributory to the phenotype. © 2010 Wiley‐Liss, Inc.
Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy
Authors: Ottesen Anne Marie , Aksglaede Lise , Garn Inger , Tartaglia Nicole , Tassone Flora , Gravholt Claus H. , Bojesen Anders , Sørensen Kaspar , Jørgensen Niels , Rajpert‐De Meyts Ewa , Gerdes Tommy , Lind Anne‐Marie , Kjaergaard Susanne , Juul Anders 
Published: April 2010

AbstractTall stature and eunuchoid body proportions characterize patients with 47,XXY Klinefelter syndrome, whereas patients with 45,X Turner syndrome are characterized by impaired growth. Growth is relatively well characterized in these two syndromes, while few studies describe the growth of patients with higher grade sex chromosome aneuploidies. It has been proposed that tall stature in sex chromosome aneuploidy is related to an overexpression of SHOX, although the copy number of SHOX has not been evaluated in previous studies. Our aims were therefore: (1) to assess stature in 305 patients with sex chromosome aneuploidy and (2) to determine the number of SHOX copies in a subgroup of these patients (n = 255) these patients and 74 healthy controls. Median height standard deviation scores in 46,XX males (n = 6) were −1.2 (−2.8 to 0.3), +0.9 (−2.2 to +4.6) in 47,XXY (n = 129), +1.3 (−1.8 to +4.9) in 47,XYY (n = 44), +1.1 (−1.9 to +3.4) in 48,XXYY (n = 45), +1.8 (−2.0 to +3.2) in 48,XXXY (n = 9), and −1.8 (−4.2 to −0.1) in 49,XXXXY (n = 10). Median height standard deviation scores in patients with 45,X (n = 6) were −2.6 (−4.1 to −1.6), +0.7 (−0.9 to +3.2) in 47,XXX (n = 40), −0.6 (−1.9 to +2.1) in 48,XXXX (n = 13), and −1.0 (−3.5 to −0.8) in 49,XXXXX (n = 3). Height increased with an increasing number of extra X or Y chromosomes, except in males with five, and in females with four or five sex chromosomes, consistent with a nonlinear effect on height. © 2010 Wiley‐Liss, Inc.
Hereditary multiple exostoses with spine involvement in a 4‐year‐old boy
Authors: Ezra Navid , Tetteh Beatrice , Diament Michael , Jonas Adam J. , Dickson Patricia 
Published: April 2010

AbstractHereditary multiple exostosis (HME) is an autosomal dominant disorder characterized by multiple osteochondromas. We describe a case of acute cervical spinal cord compression arising from an exostosis at the lamina of C7 and T1 in a 4‐year‐old Mexican‐American boy with HME. His affected sibling also displayed spinal cord compression because of a bony exostosis. Acute cervical spinal cord compression resulting from osteochondroma is a serious complication of HME. © 2010 Wiley‐Liss, Inc.
FMR1 gene expansion, large deletion of Xp, and skewed X‐inactivation in a girl with mental retardation and autism
Authors: Vazna Alzbeta , Musova Zuzana , Vlckova Marketa , Novotna Dhahuse , Dvorakova Lenka , Hrdlicka Michal , Havlovicova Marketa , Sedlacek Zdenek 
Published: April 2010

AbstractWe describe a girl with mild facial anomalies, mild mental retardation, and atypical autism with a remarkable behavioral phenotype of persistent anger, aggression, and dysphoria. The occurrence of late‐onset tremor and premature ovarian failure in the maternal branch of the family pointed to a possible defect in the FMR1 gene. Indeed, the patient carried a full FMR1 mutation. Unexpectedly, both alleles of the gene were almost completely methylated. Cytogenetic examination of the patient revealed in addition a large de novo deletion in band Xp22 on one of her X chromosomes. The deletion was fine mapped using oligonucleotide array CGH, and its breakpoints were localized using sequencing. The size of the deletion was about 17.4 Mb, and it contained more than 90 protein‐coding genes. Microsatellite analysis indicated paternal origin of the aberrant chromosome. The large rearrangement was the most probable cause of the X‐inactivation skewing, thus explaining the methylation of not only the expanded (maternal) but also the normal (paternal) FMR1 alleles. This pattern of skewed X‐inactivation was confirmed using the analysis of methylation at the AR locus. The relatively mild phenotype of the patient resulted most likely from unmasking of the FMR1 defect. Although the deleted region contained many important genes, the phenotypic contribution of the rearranged X chromosome was probably limited by its almost complete inactivation. However, reduced dose of several genes escaping X‐inactivation might also play a role in the phenotype of the patient. © 2010 Wiley‐Liss, Inc.
Left ventricular non‐compaction on MRI in a patient with 22q11.2 distal deletion
Authors: Madan Shobhit , Madan‐Khetarpal Suneeta , Park Sang C. , Surti Urvashi , Bailey Ariel L. , McConnell Juliann , Tadros Sameh S. 
Published: April 2010

AbstractWe report on a 22‐year‐old male carrying a presumptive clinical diagnosis of Dubowitz‐like phenotype who has been followed‐up by cardiology for bicuspid aortic valve with ascending aorta and aortic root dilatation. Cardiac magnetic resonance imaging (CMRI) confirmed these findings, along with an incidental finding of left ventricular non‐compaction (LVNC). Genetic workup revealed the diagnosis of 22q11.2 distal deletion encompassing the BCR gene. This is the first time LVNC has been reported in a patient with 22q11.2 distal deletion. © 2010 Wiley‐Liss, Inc.
Premature ovarian failure, absence of pubic and axillary hair with de novo 46,X,t(X;15)(q24;q26.3)
Authors: Giacomozzi Claudio , Gullotta Francesca , Federico Giovanni , Colapietro Isabella , Nardone Anna Maria , Cianfarani Stefano 
Published: April 2010

AbstractWe report on an adolescent girl with premature ovarian failure (POF), de novo unbalanced translocation X;15(q24;q26.3) with partial Xq24 duplication, and absence of pubic and axillary hair. Endocrine assessment showed normal adrenal and ovarian function. Chromosomal abnormality was identified by standard cytogenetic methods, array‐CGH, and FISH analysis. Mutation analysis showed normal androgen receptor genes. Pubic and axillary hair began developing during estrogen + progesterone therapy. Our patient demonstrates that a distal X‐breakpoint involving POF1 locus is able to cause POF without virilization during adolescence. © 2010 Wiley‐Liss, Inc.
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease
Authors: Yu Shihui , Shao Lei , Kilbride Howard , Zwick David L. 
Published: April 2010

AbstractNeonatal deaths account for about 67% of all deaths during the first year of life in the USA. Genetic defects are important factors contributing to neonatal deaths and congenital anomalies. Here we report on the identification of a 1.37 Mb de novo deletion of chromosome 16q24.1‐q24.2 by microarray‐based comparative genomic hybridization (aCGH) technique in a newborn boy with lethal severe alveolar capillary dysplasia and multiple congenital anomalies who died of irreversible pulmonary hypertension, respiratory failure and cor pulmonale at three days of age. The phenotypic findings and causal genes (FOXF1 and FOXC2) involved in producing this unusual syndrome are detailed. Our findings independently confirm the results in a previous publication describing multiple patients with similar clinical and genetic observations, and highlight the importance of scanning human genomes at high resolution for identifications of micro‐imbalances as pathogenic causes in neonates with unexplained congenital anomalies. © 2010 Wiley‐Liss, Inc.
Copper‐catalyzed asymmetric 1,4‐conjugate addition of dialkylzinc to enones
Authors: Gou Shaohua , Ye Zhongbin , Shi Leiting , Qing Dayong , Zhang Wen , Wang Yuliang 
Published: April 2010

AbstractAsymmetric 1,4‐conjugation addition of dialkylzinc (diethylzinc and dimethylzinc) to cyclic enones, chalcone and nitroalkenes was achieved by a 25 mol% (R)‐6,6′‐Br2‐BINOL(1f), 25 mol% CuSPh and 100 mol% dicyclohexylmethylamin(Cy2NMe) catalyst system. The Cu(I) catalyst system enables the cyclic enone, chalcone and nitroalkene generality with high enantioselectivity (up to 84% ee) and isolated yield (up to 94%) under mild reaction conditions. Copyright © 2010 John Wiley & Sons, Ltd.
Optimized surface silylation of chemically amplified epoxidized photoresists for micromachining applications
Authors: Kontziampasis D. , Beltsios K. , Tegou E. , Argitis P. , Gogolides E. 
Published: April 2010

AbstractWe explored the selective wet silylation of noncrosslinked areas of epoxidized photoresists using chlorosilanes. Emphasis was placed on the Si uptake of the epoxy films when controlled low levels of water were incorporated into the silylation solution. Fourier transform infrared measurements and oxygen‐plasma resistance data with in situ laser interferometry and multiwavelength ellipsometry are presented. The fine tuning of the moisture level was found to be crucial for the generation of satisfactory and reproducible structures. The optimized version of the process was shown to be useful for epoxy‐based dry micromachining. Overall, an attractive positive‐tone process is presented as an alternative to the usual negative‐tone process for commercial epoxy resists. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Effect of the shape of dispersed particles on the thermal and mechanical properties of biomass polymer blends composed of poly(L‐lactide) and poly(butylene succinate)
Authors: Yokohara Tadashi , Okamoto Kenzo , Yamaguchi Masayuki 
Published: April 2010

AbstractThe structure and properties of binary blends composed of poly(lactic acid) (PLA) and fibrous poly(butylene succinate) (PBS), which were prepared by an uniaxial stretching operation in the molten state, were studied and compared with those of blends having spherical particles of PBS in a continuous PLA phase. We found from electron microscope observation that PBS nanofibers with a large aspect ratio were generated in the stretched samples. Enlargement of the surface area of the PBS particles, which showed nucleating ability for PLA, led to a high degree of crystallization and enhanced the cold crystallization in the heating process. Moreover, the PBS fibers in the stretched samples had a dominant effect on the mechanical properties in the point range between the glass‐transition temperature of PLA and the melting temperature of PBS. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
A design of experiments (DoE) approach to material properties optimization of electrospun nanofibers
Authors: Coles Stuart R. , Jacobs Daniel K. , Meredith James O. , Barker Guy , Clark Andrew J. , Kirwan Kerry , Stanger Jon , Tucker Nick 
Published: April 2010

AbstractUsing an electrospinning technique, polymer materials have been spun using electrostatic potential to create a fiber mat. To develop the electrospinning opportunities available for practical applications, it is important that a full understanding of process parameters is achieved. These fundamental principles will form the initial framework of future research with the effects on polymer output examined as the primary focus of this article. Poly(vinyl alcohol) (PVOH) and polylactic acid (PLA) polymer solutions were developed and a Design of Experiments (DoE) approach implemented, to determine whether the variation of factors led to significant effects on fiber output. Parameters altered were conductivity, concentration (% w/w), electrostatic potential, and the collection distance at which the fiber was obtained. Results taken considered the fiber diameter, deposition rate of material, current achieved at the point of collection and whether or not the material was actually able to electrospin and visibly produce polymer fiber. The results of this work indicate the presence of interactions between the processing parameters and as such allow a fine tuning process to be used to adapt production of the micro‐ and nanofibers to suit a desired application with specific materials properties. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010