bluuebunny/crossref_metadata_2025_split huggingface dataset:
Lyapunov‐based training algorithm applied to a continually on line‐trained ANN used in the current‐loop control of a single‐phase switched rectifier
Authors: Viola J. C. , Restrepo J. A. 
Published: October 2007

AbstractThis paper presents an implementation of a PWM single‐phase switched rectifier controlled by a continually online‐trained artificial neural network (COT‐ANN). The stability of the COT‐ANN training is ensured by using a suitable description of the switched rectifier and a Lyapunov‐based training algorithm. The stability of the neural network is verified using a norm metric of the ANN matrix weights. The proposed switched rectifier can reverse the power flow direction while attaining power factor regulation. Simulations are used to test the validity of the proposed algorithm and the results are finally verified by a practical implementation of this system. Copyright © 2007 John Wiley & Sons, Ltd.
A computational model for temperature and sterility distributions in a pilot‐scale high‐pressure high‐temperature process
Authors: Knoerzer Kai , Juliano Pablo , Gladman Simon , Versteeg Cornelis , Fryer Peter J. 
Published: October 2007

AbstractHigh pressure high temperature processing is a candidate food sterilization process in which heat is generated volumetrically within the food as a result of rapid pressurization to 600 MPa or higher. For commercial viability the temperature profile in the process should be as uniform as possible. A model has been developed to predict the flow and temperature fields inside a pilot scale (35 L) vessel during the pressure heating, holding and cooling stages of the process. Simulations on the empty vessel show that thermal conduction causes excessive cooling. The model agrees well with experimental results in which thermocouples are used to measure temperature throughout a metallic composite carrier inserted into the vessel. The model is used to design a Polytetrafluoroethylene (PTFE) carrier which produces thermal uniformity within the carrier. Predicted variations of sterility resulting from a process are produced using the F0‐value distribution. No significant reduction of spores was seen in the empty vessel, while more than 94.6% of the PTFE carrier volume achieved a reduction greater than 1012. © 2007 American Institute of Chemical Engineers AIChE J, 2007
M34T and V37I mutations in GJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance
Authors: Pollak Agnieszka , Skórka Agata , Mueller‐Malesińska Małgorzata , Kostrzewa Grażyna , Kisiel Bartłomiej , Waligóra Jarosław , Krajewski Paweł , Ołdak Monika , Korniszewski Lech , Skarżyński Henryk , Ploski Rafal 
Published: October 2007

AbstractDespite research the role of the M34T and V37I variants of GJB2 in causing hearing impairment (HI) remains controversial. Our purpose was to test a hypothesis that M34T and V37I are pathogenic but have distinct features resulting in a reduced penetrance. We screened for known GJB2/GJB6 mutations 233 Polish consecutive unrelated subjects with non‐syndromic, sensorineural HI who were previously found to carry 35delG mutation on one chromosome. The most frequent mutations were also analyzed in ∼1,000 controls. We found that M34T and V37I were significantly (P ≪ 10−6) overrepresented among patients, but their penetrance was estimated as 1/10 relative to mutations of undisputed pathogenicity. This finding apparently could not be explained by low degree of HI associated with M34T and V37I since another mutation causing comparably mild HI (L90P) did not have reduced penetrance. Subsequent analyses showed that the patients with M34T/35delG and V37I/35delG had significantly later onset of HI than patients with other genotypes (P < 10−6) including the L90P/35delG (P = 0.006). Also, among these patients (but not others) a strong correlation between the degree of HI and its duration was found (r = 0.79, P < 10−5). We tentatively suggest that M34T and V37I might cause mild HI characterized by relatively late onset and progression. © 2007 Wiley‐Liss, Inc.
Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes
Authors: Kosho Tomoki , Takahashi Jun , Momose Takashige , Nakamura Akinori , Sakurai Akihiro , Wada Takahito , Yoshida Kunihiro , Wakui Keiko , Suzuki Takefumi , Kasuga Kazuo , Nishimura Gen , Kato Hiroyuki , Fukushima Yoshimitsu 
Published: October 2007

AbstractA 56‐year‐old Japanese woman with mandibuloacral dysplasia and type A lipodystrophy is described. Mutation analysis identified a homozygous missense mutation (1585G > A) in exon 9 of the LMNA gene that replaces well‐conserved residue alanine at position 529 to threonine (A529T). The woman showed, in addition to the usual clinical manifestations of the disorder, severe progressive skeletal changes: osteoporotic changes with multiple fractures; osteolysis of the right radius; and destructive changes of the vertebrae, leading to compression of the cervical spinal cord and paraplegia. Laboratory findings included markedly reduced bone mineral density; significantly increased urine N‐telopeptide of collagen type I, an osteoclast marker; and normal serum bone specific alkaline phosphatase, an osteoblast marker. Regular follow up of adult patients with the disorder is desirable, including skeletal radiography, estimates of bone mineral density, and biochemical markers of bone turnover. Treatment with bisphosphonates to inhibit osteoclast activity is likely to be beneficial. © 2007 Wiley‐Liss, Inc.
Aortic dilatation in Cockayne syndrome
Authors: Ovaert Caroline , Cano Aline , Chabrol Brigitte 
Published: October 2007

AbstractCockayne syndrome is a rare growth failure and premature aging disorder featuring abnormal ultraviolet sensitivity and impaired transcription‐coupled DNA repair. Cardiac involvement has not been described in Cockayne patients except for one recently described case of dilated cardiomyopathy. We describe one patient in whom marked ascending aorta dilatation was observed together with mild aortic regurgitation. Ascending aorta dilatation might be another feature of premature aging in Cockayne syndrome and may require cardiovascular investigation and monitoring. © 2007 Wiley‐Liss, Inc.
Syndrome of congenital cataracts, sensorineural deafness, Down syndrome‐like facial appearance, short stature, and mental retardation: Two additional cases
Authors: Keppler‐Noreuil Kim , Welch Judy , Baker‐Lange Katherine 
Published: October 2007

AbstractAn apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome‐like facial appearance, short stature, and mental retardation was described by Gripp et al.1996. The authors reported on two unrelated patients with congenital cataracts, sensorineural deafness, distinctive facial appearance, mental retardation, postnatal short stature, and skeletal changes. We report on two additional patients with findings most similar to the reported patients by Gripp et al.1996, including bilateral congenital cataracts, hearing loss, craniofacial abnormalities, short stature, skeletal abnormalities, and developmental delay. Both of the patients reported herein had chromosome microarray analysis, which showed normal results in Patient 2 but abnormal results in Patient 1 and his mother who both had a chromosome 11q25 subtelomere deletion. Patient 1 and his mother's findings are atypical for the common findings reported in Jacobsen syndrome (11q terminal deletion syndrome), and consistent with the patients reported by Gripp et al.1996. The etiology for these cases has been unknown. The microarray results on Patient 1 suggest that the other patients with findings of developmental delay, short stature, congenital cataracts, sensorineural hearing loss, and similar craniofacial features may have either a microdeletion of chromosome 11q terminal region or haploinsufficiency of a gene localized to this region. © 2007 Wiley‐Liss, Inc.
LEOPARD syndrome with partly normal skin and sex chromosome mosaicism
Authors: Writzl Karin , Hoovers Jan , Sistermans Erik A. , Hennekam Raoul C.M. 
Published: October 2007

AbstractWe report on a family with LEOPARD syndrome which was molecularly proven (p.Thr468Met in PTPN11) in a father and his adult son. The father had multiple lentigines dispersed equally over his body; the son was similarly affected except for the left part of thorax, back and left arm, which were completely devoid of lentigines and only showed a few nevi. In addition, the son was found to have a mosaic karyotype, 47,XYY/46,XY, in lymphocytes. Skin biopsies from the pigmented and unpigmented forearm showed that mainly a 47,XYY karyotype was present in the pigmented skin and mainly a 46,XY karyotype in the unpigmented skin. In both fibroblast cultures the PTPN11 mutation was present, and no additional mutation could be detected. We discuss the various possible explanations for this phenotype, which include the possibility of coincidence; revertant mosaicism; silencing of a second PTPN11 mutation; gene(s) located on a sex chromosome influencing the phenotype; and epigenetic influences. We favor that the co‐occurrence of a sex chromosome mosaicism and mosaicism for skin symptoms in a single patient with LEOPARD syndrome is coincidence, but that mosaicism for LEOPARD skin symptoms in itself may well be more frequent and needs additional studies. Each of the above‐hypothesized mechanisms may then remain possible. © 2007 Wiley‐Liss, Inc.
Molecular characterization of a novel X‐linked syndrome involving developmental delay and deafness
Authors: Hildebrand Michael S. , de Silva Michelle G. , Tan Tiong Yang , Rose Elizabeth , Nishimura Carla , Tolmachova Tanya , Hulett Joanne M. , White Susan M. , Silver Jeremy , Bahlo Melanie , Smith Richard J.H. , Dahl Hans‐Henrik M. 
Published: October 2007

AbstractX‐linked syndromes associated with developmental delay and sensorineural hearing loss (SNHL) have been characterized at the molecular level, including Mohr‐Tranebjaerg syndrome and Norrie disease. In this study we report on a novel X‐linked recessive, congenital syndrome in a family with developmental delay and SNHL that maps to a locus associated with mental retardation (MR) for which no causative gene has been identified. The X‐linked recessive inheritance and congenital nature of the syndrome was confirmed by detailed clinical investigation and the family history. Linkage mapping of the X‐chromosome was conducted to ascertain the disease locus and candidate genes were screened by direct sequencing and STRP analysis. The recessive syndrome was mapped to Xp11.3–q21.32 and a deletion was identified in a regulatory region upstream of the POU3F4 gene in affected family members. Since mutations in POU3F4 cause deafness at the DFN3 locus, the deletion is the likely cause of the SNHL in this family. The choroideremia (CHM) gene was also screened and a novel missense change was identified. The alteration changes the serine residue at position 89 in the Rab escort 1 protein (REP‐1) to a cysteine (S89C). Prenylation of Rab proteins was investigated in patients and the location of REP‐1 expression in the brain determined. However, subsequent analysis revealed that this change in CHM was polymorphic having no effect on REP‐1 function. Although the causative gene at the MR locus in this family has not been identified, there are a number of genes involved in syndromic and nonsyndromic forms of MR that are potential candidates. © 2007 Wiley‐Liss, Inc.
Complete sex reversal in a WAGR syndrome patient
Authors: Le Caignec Cedric , Delnatte Capucine , Vermeesch Joris R. , Boceno Michelle , Joubert Madeleine , Lavenant Francoise , David Albert , Rival Jean‐Marie 
Published: October 2007

AbstractThe WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Children with WAGR syndrome invariably have a constitutional chromosomal deletion at 11p13. WT1 haploinsufficiency is associated with a significant risk of Wilms tumor while PAX6 haploinsufficiency lead to aniridia, both genes located in the deleted region. The 46,XY patients with WAGR syndrome are often born with genital abnormalities such as cryptorchidism or hypospadias but more rarely ambiguous genitalia. To our knowledge, complete sex reversal has never been observed in WAGR syndrome patients. Here, we report on the clinical, cytogenetic, and molecular characterization of a child with WAGR syndrome and complete sex reversal. The young girl had female external and internal genitalia with normal uterus and fallopian tubes while the ovaries were not observed. Chromosomal analysis showed a 46,XY,del(11)(p12p14.1) karyotype. A 1‐Mb resolution array CGH experiment estimated the size of the interstitial deletion at ≈10 Mb encompassing WT1 and PAX6. The entire coding regions of WT1 and SRY have been sequenced and no mutation has been identified. Frasier syndrome (FS) and Denys‐Drash syndrome (DDS) are two disorders associated with mutations in the WT1 gene. Complete sex reversal is a feature usually present in FS and sometimes in DDS, but until now never observed in WAGR syndrome. The present report suggests that these conditions may be considered as part of the spectrum of disease due to WT1 gene alterations. © 2007 Wiley‐Liss, Inc.
Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: A new patient presenting with normal growth
Authors: Le Caignec Cedric , Isidor Bertrand , de Pontbriand Ulrika , David Valerie , Audrezet Marie‐Pierre , Ferec Claude , David Albert 
Published: October 2007

AbstractMany patients with maternal uniparental disomy of chromosome 7 (UPD7) have been described, mainly with intrauterine and postnatal growth retardation or with Silver–Russell syndrome. In contrast, only three cases of paternal UPD7 have been reported, all associated with recessive disorders. Here, we report on the clinical and molecular data of the third patient with paternal UPD7 and cystic fibrosis. Pre‐ and postnatal growth were normal. These findings support the hypothesis that paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth. © 2007 Wiley‐Liss, Inc.
Variation of the degree of sacral vertebral body fusion in adulthood in two European modern skeletal collections
Authors: Belcastro Maria Giovanna , Rastelli Elisa , Mariotti Valentina 
Published: October 2007

AbstractA new standardized scoring method was used to study age variation of the degree of fusion of the ventral face of the sacral vertebral bodies (SVF) in 904 adult skeletons of both sexes from two identified modern samples (20th c.): Frassetto collections (Museum of Anthropology, University of Bologna, Italy) and Colecção de Esqueletos Identificados (Museum of Anthropology, University of Coimbra, Portugal). SVF was scored for each fusion site (between S1 and S2, etc.) on a four‐stage scale, from nonfusion (Degree 0) to complete fusion (Degree 3). Inter‐observer error of 1.2% suggested good reproducibility. The data were analyzed according to age, sex, and population. There were sex and population differences only in young adults (20–34 years). Sex differences in SVF were present in both collections, with females displaying earlier fusion than males. The differences occurred until 35 years, after which there was a generalized prevalence of completely fused sacra. Population differences were observed for males, with the Sassari men showing later sacral vertebral fusion than the Coimbra men. Our study suggests that incompletely fused sacra can help in distinguishing young adults from old adults regardless of sex and population. Am J Phys Anthropol 135:149–160, 2008. © 2007 Wiley‐Liss, Inc.
Bildung von Peptidfibrillen
Authors: Hamley Ian W. 
Published: October 2007

AbstractDie Bildung von Peptidfibrillen spielt eine bedeutende Rolle bei vielen Krankheiten, die durch Amyloidablagerungen verursacht werden. Intensiv erforscht wird die Bildung von Fibrillen aber auch wegen ihres großen Anwendungspotenzials in der Bionanotechnologie, wo Hydrogele aus Peptidfibrillen als Zellgerüste und als Substrate für funktionelle und responsive Biomaterialien, Biosensoren und Nanodrähte Anwendung finden können. In diesem Aufsatz werden die grundlegenden Aspekte der Selbstorganisation von Peptiden zu Fibrillen behandelt. Sowohl natürliche amyloidbildende Peptide als auch synthetische Verbindungen, z. B. Peptidfragmente, Copolymere und Amphiphile, werden diskutiert.
Organic Transformations on σ‐Aryl Organometallic Complexes
Authors: Gagliardo Marcella , Snelders Dennis J. M. , Chase Preston A. , Klein Gebbink Robertus J. M. , van Klink Gerard P. M. , van Koten Gerard 
Published: October 2007

AbstractThis work reviews recent developments in the field of organic transformations on σ‐aryl organometallic complexes. The general notion that MC σ bonds are kinetically labile, highly reactive, and incompatible with typical reaction conditions met in organic synthesis has limited the use of these synthetic strategies thus far. However, organic transformations on metal‐bound σ‐aryl fragments are being used more and more by chemists in both industry and academia. In this Review, emphasis is put on the synthetic methods applied in this field up to now. The simplicity and generally good yields of these methods are very attractive for the construction of functionalized organometallic building blocks that are potentially useful as photochemical molecular devices, biosensors and ‐conjugates, or molecular switches. Thus, this Review has been tailored for a broader audience with the aim of encouraging the application of these strategies.
Peptide Fibrillization
Authors: Hamley Ian W. 
Published: October 2007

AbstractThe fibrillization of peptides is relevant to many diseases based on the deposition of amyloids. The formation of fibrils is being intensively studied, especially in terms of nanotechnology applications, where fibrillar peptide hydrogels are used for cell scaffolds, as supports for functional and responsive biomaterials, biosensors, and nanowires. This Review is concerned with fundamental aspects of the self‐assembly of peptides into fibrils, and discusses both natural amyloid‐forming peptides and synthetic materials, including peptide fragments, copolymers, and amphiphiles.
Influence of post‐treatments on the properties of porous poly(vinyl alcohol) membranes
Authors: Wang Yan‐Li , Yang Hu , Xu Zhen‐Liang 
Published: October 2007

AbstractPorous poly(vinyl alcohol) (PVA) membranes were prepared by a phase‐inversion method. The influence of chemical crosslinking and heat treatments on the swelling degree, resistance to compaction, mechanical strength, and morphology of porous PVA membranes was extensively studied. The crosslinking degree and crystallinity of the membranes, calculated from IR spectra, increased with the treatment time. The porosity, calculated on the basis of swelling experiments, showed a decreasing trend for heat‐treated membranes but remained almost at a constant value for crosslinked membranes. Such a change was further proved with scanning electron microscopy pictures. The behavior was explained by the rearrangement of PVA chains during the heat‐treatment process, which led to morphological changes in the membranes. The mechanical properties of the porous membranes in dry and wet states were measured, and a great difference was observed between crosslinked and heat‐treated membranes in the dry and wet states. The crosslinked membranes showed good mechanical properties in the dry state but became fragile in the wet state. On the contrary, the heat‐treated membranes were more flexible in the wet state than in the dry state. This change was explained by the turnaround of inner stress in the systems during the swelling process. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Development of high‐absorbent light‐weight sanitary napkin
Authors: Das A. , Kothari V. K. , Makhija S. , Avyaya K. 
Published: October 2007

AbstractThis article presents a method of preparing the absorbent core for an ultrathin sanitary napkin using super absorbent fiber (SAF) and viscose fiber blends with varying SAF percentages and mass per unit area (g/m2). The SAF/viscose blended carded webs were sandwiched between two layers of nonwoven fabric to integrate and encapsulate it. The prepared napkin samples showed significantly better rates of absorption for saline solution even though the glass tube wicking (gravimetric) test gave only comparable results. The saturation absorption of the core also follows a definite trend, dependent on two variables, i.e., mass per unit area (g/m2) of the core web and proportion of SAF in the core web. Based on the results, the absorption of the core has been optimized and equations have been developed for prediction of the absorption of the core from mass per unit area and the proportion of SAF in the core web. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Preparation of isotacticity‐rich poly(tert‐butyl vinyl ether) by the cationic polymerization of tert‐butyl vinyl ether with dimethyl[rac‐ethylenebis(indenyl)]zirconium and tri(pentafluorophenyl)borane
Authors: Kwon Oh Wook , Noh Seok Kyun , Lyoo Won Seok 
Published: October 2007

Abstracttert‐Butyl vinyl ether (tBVE) was polymerized with the catalyst dimethyl[rac‐ethylenebis(indenyl)] zirconium (ansa‐zirconocene) with tri(pentafluorophenyl) borane [B(C6F5)3] as a cocatalyst. The effects of various polymerization conditions, such as the polymerization time, type of polymerization solvent, polymerization temperature, and catalyst concentration, on the conversion of tBVE into poly(tBVE), its molecular weight and molecular weight distribution, and its stereoregularity were investigated. The maximum conversion of tBVE into poly(tBVE) was over 90% at a polymerization temperature of −30°C with an ansa‐zirconocene and B(C6F5)3 concentration of 3.0 × 10−7 mol/mol of tBVE, respectively. The number‐average molecular weights of poly(tBVE) ranged from approximately 14,000 to 20,000, with a lower polydispersity index (weight‐average molecular weight/number‐average molecular weight) ranging from 1.48 to 1.77, at all polymerization temperatures. The number‐average molecular weight of poly(tBVE) increased with decreases in the polymerization temperature and catalyst concentration. The mm triad sequence fraction of poly(tBVE) polymerized with ansa‐zirconocene/B(C6F5)3 at −30°C was much higher than that of poly(tBVE) polymerized with the B(C6F5)3 catalyst at −30°C, and this indicated that the ansa‐zirconocene/B(C6F5)3 catalyst system affected the isospecific polymerization of tBVE. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2008