bluuebunny/crossref_metadata_2025_split huggingface dataset:
Supervisory field‐oriented control of induction motors with uncertain rotor resistance
Authors: Chang G. W. , Hespanha J. P. , Morse A. S. , Netto M. S. , Ortega R. 
Published: January 2005

AbstractIt is well known that the performance of the (industry standard) field‐oriented control (FOC) for induction motors is highly sensitive to uncertainties in the rotor resistance. In this paper we describe how to use supervisory control to obtain an adaptive implementation of FOC for current‐fed machines. The unknown rotor resistance is assumed to belong to a discrete set, while the uncertain load torque ranges in a given compact set. Even though no restrictions area prioriimposed on the size of these sets, their definitions reflect the prior knowledge of the designer, which is effectively incorporated in the supervisory control algorithm. The supervisor selects from these sets values for the parameters to be applied to the FOC, a choice that is made by continuously comparing suitably defined performance signals. We prove that the proposed supervisor achievesglobal stabilizationof the system when the load torque is known to belong to a given finite set of values. Apparently, this is the first globally convergent adaptive algorithm for current‐fed machines which simply adds adaptation to the widely popular FOC and is not a radically new complicated controller, hence it is more likely to be adopted by practitioners. Some simulation results illustrate the properties of the algorithm. Copyright © 2001 John Wiley & Sons, Ltd.
Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki–Shaffer syndrome
Authors: Chuang Louise , Wakui Keiko , Sue Whey‐Chen , Su Mei‐Hsu , Shaffer Lisa G. , Kuo Pao‐Lin 
Published: January 2005

AbstractWe report a family with inherited Potocki–Shaffer syndrome. The phenotypically normal mother has an interstitial deletion of 11(p11.12p11.2) with neocentric marker chromosome formation. The marker chromosome contains the deleted material on 11p11.2 and is likely a ring. The patient inherited a maternal deleted chromosome 11 but not the marker chromosome, thus resulting in an unbalanced karyotype along with the phenotype of Potocki–Shaffer syndrome. The deleted region in our case—11p11.12p11.2—is a newly reported site of constitutional neocentromere formation. This is also the first report describing deletion of 11p11.12‐p11.2 and neocentromere formation resulting in inherited Potocki–Shaffer syndrome. © 2005 Wiley‐Liss, Inc.
Trisomy 15q25.2‐qter in an autistic child: Genotype–phenotype correlations
Authors: Bonati Maria Teresa , Finelli Palma , Giardino Daniela , Gottardi Giulietta , Roberts Wendy , Larizza Lidia 
Published: January 2005

AbstractWe report on the case of a male child with autistic disorder, postnatal overgrowth, and a minor brain malformation. Karyotyping and fluorescent in situ hybridization (FISH) analysis showed the presence of an extra copy of the distal portion of chromosome 15q (15q25.2‐qter) transposed to chromosome 15p leading to 15q25.2‐qter pure trisomy. This karyotype–phenotype study further supports the evidence for a specific phenotype related to trisomy 15q25 or 26‐qter and suggests that distal chromosome 15q may be implicated in specific behavioral phenotypes. © 2005 Wiley‐Liss, Inc.
Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: An extremely mild form of CFTR dysfunction
Authors: Salvatore Donatello , Tomaiuolo Rossella , Vanacore Borghina , Elce Ausilia , Castaldo Giuseppe , Salvatore Francesco 
Published: January 2005

AbstractMutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been shown to cause typical cystic fibrosis (CF) and several milder phenotypes. We report on two asymptomatic sisters who had isolated increased sweat chloride concentrations, and in whom systematic scanning of the whole coding region of the CFTR gene revealed the F508del/S1455X genotype. © 2005 Wiley‐Liss, Inc.
DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism
Authors: Dong Juan , Amor David , Aldred Michael J. , Gu TingTing , Escamilla Michael , MacDougall Mary 
Published: January 2005

AbstractAmelogenesis imperfecta hypoplastic‐hypomaturation with taurodontism (AIHHT) is an autosomal dominant (AD) trait associated with enamel defects and enlarged pulp chambers. In this study, we mapped an AIHHT family to human chromosome 17 q21‐q22 (lod score 3.3) and identify a two basepair deletion (CT) at nucleotide 560 in DLX3 associated with the disease. This mutation causes a frameshift altering the last two amino acids of the DNA‐binding homeodomain introducing a premature stop codon truncating the protein by 88 amino acids. This is the first report of a mutation within the homeodomain of DLX3. Previous studies have shown a DLX3 mutation outside the homeodomain associated with tricho‐dento‐osseous syndrome (TDO) suggesting TDO and some forms of AIHHT are allelic. copy; 2005 Wiley‐Liss, Inc.
Craniofacial features in osteogenesis imperfecta: A cephalometric study
Authors: Waltimo‐Sirén Janna , Kolkka Marina , Pynnönen Seppo , Kuurila Kaija , Kaitila Ilkka , Kovero Outi 
Published: January 2005

AbstractOsteogenesis imperfecta (OI) is a heterogeneous group of connective tissue diseases that mainly manifest as bone fragility and skeletal deformity. In most families it segregates as a dominant trait and results from mutations in type I collagen genes. In this study we analyzed the size and form of the bony structures in heads of 59 consecutive patients with OI types I, III, or IV (Sillence classification), using lateral radiographs. Paired controls were matched for gender and age. The purpose was to obtain baseline information of craniofacial development in OI patients that have not received bisphosphonate treatment. In OI type I we found smaller than normal linear measurements, indicating a general growth deficiency, but no remarkable craniofacial deformity. In OI types III and IV, the growth impairment was pronounced, and the craniofacial form was altered as a result of differential growth deficiency and bending of the skeletal head structures. We found strong support both for an abnormally ventral position of the sella region due to bending of the cranial base, and for a closing mandibular growth rotation. Vertical underdevelopment of the dentoalveolar structures and the condylar process were identified as the main reasons for the relative mandibular prognathism in OI. Despite of the widespread intervention with bisphosphonates, the facial growth impairment will probably remain characteristic for many OI patients, and their orthodontic treatment should be further developed. © 2005 Wiley‐Liss, Inc.
Lateral meningocele syndrome: Vertical transmission and expansion of the phenotype
Authors: Chen Kelly M. , Bird Lynne , Barnes Pat , Barth Richard , Hudgins Louanne 
Published: January 2005

AbstractLateral meningoceles were first described by Lehman et al. [(1977); J Pediatr 90: 49–54] in a patient with other skeletal findings and distinctive craniofacial features. Subsequently, six more patients with the so‐called lateral meningocele syndrome (LMS) have been reported. We describe the findings in three new cases and expand the phenotype. The existence of an affected mother and daughter supports the hypothesis that LMS is a dominant disorder affecting primarily the connective tissue. © 2005 Wiley‐Liss, Inc.
Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1‐13q32.3
Authors: Amor David J. , Voullaire Lucille , Bentley Karen , Savarirayan Ravi , Choo K.H. Andy 
Published: January 2005

AbstractWe describe a boy with moderate intellectual disability associated with distinctive hand malformations (hypoplastic and angel‐shaped middle phalanges) and partial growth hormone (GH) deficiency associated with mosaic deletion of 13q31.1‐13q32.3. The deleted segment was mapped to a 20‐Mb region bounded by BACs RP11‐1143C2 and RP11‐139C1, narrowing the previously described locus for hand malformations at this region and suggesting that a locus for GH deficiency is also present at this location. The deleted segment contains at least three candidate genes, glypican‐5, FARP1 and SOX21, that may be contributing to the phenotype in this boy. In a significant proportion (approximately 50%) of cells, the deleted region is present as a supernumerary ring chromosome stabilized by the formation of a neocentromere at 13q31‐q32, within a region with a known propensity for neocentromere formation. The ring chromosome appears to be prone to low‐level misdivision and loss in vitro which, in vivo, must be countered by selection for the balanced karyotype because the level of mosaicism has remained stable over 13 years. © 2005 Wiley‐Liss, Inc.
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA)
Authors: Giunta Cecilia , Randolph Ann , Al‐Gazali Lihadh I. , Brunner Han G. , Kraenzlin Marius E. , Steinmann Beat 
Published: January 2005

AbstractWe report on seven patients affected with Nevo syndrome, a rare, autosomal recessive disorder characterized by increased perinatal length, kyphosis, muscular hypotonia, and joint laxity. Since its first description by Nevo et al. [1974], only a few cases have been reported. Because some of these patients present clinical features similar to those of the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VIA), an inherited connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in PLOD1, we studied seven patients with Nevo syndrome, three of whom have previously been reported, and four of whom are new. In the five patients from whom urine was available, the ratio of total urinary lysyl pyridinoline (LP) to hydroxylysyl pyridinoline (HP) was elevated (8.2, 7.8, 8.6, 3.5, and 4.8, respectively) compared with that in controls (0.20 ± 0.05, range 0.10–0.38), and similar to that observed in patients with EDS VIA (5.97 ± 0.99, range 4.3–8.1). Six patients were homozygous for a point mutation in exon 9 of PLOD1 causing a p.R319X nonsense mutation, while one patient was homozygous for a large deletion comprising exon 17 of PLOD1. We conclude that the Nevo syndrome is allelic to and clinically indistinguishable from EDS VIA, and present evidence that increased length at birth and wristdrop, in addition to muscular hypotonia and kyphoscoliosis, should prompt the physician to consider EDS VIA earlier than heretofore. © 2005 Wiley‐Liss, Inc.
Supernumerary ring chromosome 20 in a mother and her child
Authors: Pinto M.R. , Fonseca e Silva M.L. , Aguiar J. , Quelhas I. , Lima M.R. 
Published: January 2005

AbstractThe authors report a familial case of mosaicism for an extra ring 20, identified by fluorescence in situ hybridization (FISH), in a mother and her child. In spite of the fact that both patients had clinical abnormalities, the more severe phenotype present in the child was probably due to the higher percentage of abnormal cells. To our knowledge, this is the first report of a familial extra ring 20 mosaicism. © 2005 Wiley‐Liss, Inc.
A dominantly inherited spondylometaphyseal dysplasia with “corner fractures” and congenital scoliosis
Authors: Sutton V. Reid , Hyland James C. , Phillips William A. , Schlesinger Alan E. , Brill Paula W. 
Published: January 2005

AbstractSpondylometaphyseal dysplasia (SMD) is a term applied to a varied group of skeletal dysplasias that principally involve the spine and the metaphyses of long bones. SMD Sutcliffe or “Corner Fracture” type is characterized by short stature, developmental coxa vara, fragmented appearance of the metaphyses (“corner fractures”), abnormally shaped vertebrae, odontoid hypoplasia, and dominant inheritance. We report a family with a dominantly inherited SMD with “corner fractures” and severe, congenital scoliosis but neither coxa vara nor odontoid abnormalities. This could either represent phenotypic variability in SMD‐“Corner Fracture” type, or be a new, dominantly inherited SMD. The presence of severe, congenital scoliosis and short stature is present in all members of this family, and not typically seen in SMD‐“Corner Fracture” type, supporting our hypothesis that this might represent a new, dominantly inherited SMD. © 2005 Wiley‐Liss, Inc.
Familial neurocardiogenic (vasovagal) syncope
Authors: Newton Julia L. , Kerr Simon , Pairman Jessie , McLaren Andrew , Norton Michael , Kenny Rose Anne , Morris Christopher M. 
Published: January 2005

AbstractVasovagal syncope (VSS) is an exaggerated tendency towards the common faint caused by a sudden and profound hypotension with or without bradycardia. The etiology of VVS is unknown though several lines of evidence indicate central and peripheral abnormalities of sympathetic function. Studies however indicate a strong heritable component to the etiology of VVS in over 20% of cases. Here, we report the findings from a family that shows apparently autosomal dominant VVS in at least three generations. Clinical findings included an absence of any discernible cardiac or autonomic abnormalities and reproducible hypotension on tilt table testing in affected family members. © 2005 Wiley‐Liss, Inc.
GJB2 mutations: Passage through Iran
Authors: Najmabadi Hossein , Nishimura Carla , Kahrizi Kimia , Riazalhosseini Yasser , Malekpour Mahdi , Daneshi Ahmad , Farhadi Mohammad , Mohseni Marzieh , Mahdieh Nejat , Ebrahimi Ahmad , Bazazzadegan Niloofar , Naghavi Anoosh , Avenarius Matthew , Arzhangi Sanaz , Smith Richard J.H. 
Published: January 2005

AbstractHereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe‐to‐profound deafness in many different populations. In this study, we assessed the contributions made by GJB2 mutations and chromosome 13 g.1777179_2085947del (the deletion more commonly known as del (GJB6‐D13S1830) that includes a portion of GJB6 and is hereafter called Δ(GJB6‐D13S1830)) to the autosomal recessive non‐syndromic deafness (ARNSD) genetic load in Iran. Probands from 664 different nuclear families were investigated. GJB2‐related deafness was found in 111 families (16.7%). The carrier frequency of the 35delG mutation showed a geographic variation that is supported by studies in neighboring countries. Δ(GJB6‐D13S1830) was not found. Our prevalence data for GJB2‐related deafness reveal a geographic pattern that mirrors the south‐to‐north European gradient and supports a founder effect in southeastern Europe. © 2005 Wiley‐Liss, Inc.
Die Jagd auf Chinin: Etappenerfolge und Gesamtsiege
Authors: Kaufman Teodoro S. , Rúveda Edmundo A. 
Published: January 2005

AbstractDie Synthese von Chinin war lange Zeit ein schwer erreichbares Ziel. Im Jahr 2004, in das der 60. Jahrestag der Veröffentlichung von Woodward und Doering über Chinin fiel, gelangen zwei neuartige, stereokontrollierte Totalsynthesen dieses Naturstoffs. Zusammen mit der ersten stereokontrollierten Totalsynthese von Chinin durch Stork 2001 belegen sie das auflebende Interesse von Organikern an der Synthese dieser Verbindung, die einst ein Wundermittel war. Diese aktuellen Veröffentlichungen über Chinin demonstrieren eindrucksvoll den immensen Fortschritt organischer Synthesemethoden während der letzten drei Jahrzehnte seit den partiell kontrollierten Chininsynthesen durch Uskokovic. Nach einem Abriss der historischen Bedeutung von Chinin als Antimalaria‐Wirkstoff und einer kurzen Schilderung der Experimente, die zu seiner Isolierung und der Aufklärung seiner Struktur beitrugen, berichten wir über die ersten Verfahren zum Aufbau und schließlich die Totalsynthesen dieses Naturstoffs.
The Quest for Quinine: Those Who Won the Battles and Those Who Won the War
Authors: Kaufman Teodoro S. , Rúveda Edmundo A. 
Published: January 2005

AbstractFor a long time, the synthesis of quinine constituted an elusive target. In 2004, which marked the 60th anniversary of the publication of the approach used by Woodward and Doering to synthesize quinine, two new stereocontrolled total syntheses of the natural product were accomplished. Together with the well‐publicized first stereocontrolled total synthesis of quinine by Stork in 2001, these publications evidence the revival of interest of organic chemists in the synthesis of this compound, once considered a miracle drug. The recently disclosed syntheses of quinine also testify in a remarkable manner the huge progress made by organic synthesis during the last three decades since the first series of partially controlled syntheses of quinine by the group of Uskokovic. Following an account of the historical importance of quinine as an antimalarial drug and a brief description of the experiments which contributed to its isolation and structural elucidation, the first reconstructions of quinine and the total syntheses of the natural product are discussed.
Syntheses and structures of Me3Sb+CH2COO−·H2O, the monohydrate of the antimony analogue of betaine, and related compounds
Authors: Balàzs Gàbor , Balàzs Lucia , Breunig Hans J. , Lork Enno 
Published: January 2005

AbstractThe syntheses of the antimony analogue of betaine, Me3Sb+CH2COO− (1), of the precursor [Me3SbCH2COOH][Br] (2) and of [Me3SbCH2COOCH2CH3][Br] (3) are reported. A new method for the synthesis of solvent‐free Me3Sb is described. The structures of 1·H2O and 3 were determined by single crystal X‐ray diffractometry. Copyright © 2002 John Wiley & Sons, Ltd.
Synthesis of unsymmetric diynes by palladium and cesium fluoride catalyzed coupling of terminal bromoalkynes with alkynylstannane
Authors: Ābele Edgars , Rubina Kira , Fleisher Mendel , Popelis Juris , Arsenyan Pavel , Lukevics Edmunds 
Published: January 2005

AbstractThe Stille reaction of unsymmetric diynes from terminal bromoalkynes with alkynylstannane in the presence of palladium catalyst and cesium fluoride was studied. The system (bromoalkyne: PhC≡CSnMe3:Pd2(dba)3:PPh3:CsF:18‐crown‐6) = (1:1:0.015:0.06:2.2:0.1) in toluene at reflux temperature was found to be the most favored. Products were obtained in 31–100% yields. Correlations between calculated electron density, dipole moments and 13C NMR spectral data of synthesized bromoacetylenes and diynes have been carried out. Copyright © 2002 John Wiley & Sons, Ltd.
Metallocenyl‐[2H]naphtho[1,2‐b]pyrans: metal effect on the photochromic behaviour
Authors: Brun Pierre , Guglielmetti Robert , Anguille Stéphane 
Published: January 2005

AbstractPrevious studies have shown that the substitution by a ferrocenyl group in the 2‐position of naphthopyrans has a specific and an original effect on the photochromic behaviour. In this work, the synthesis and the photochromic properties of new naphthopyrans substituted in the 2‐position by three different metallocenyl groups (ferrocenyl, ruthenocenyl and osmocenyl) are presented. Whereas the ferrocenyl‐substituted derivatives under UV irradiation show two absorption bands, the ruthenocenyl and osmocenyl derivatives are characterized by only one absorption band under the same condition. The photochromic behaviour of these compounds is compared with that of their parent alkyl or phenyl 2‐substituted [2H]‐naphtho[1,2‐b]pyrans. Copyright © 2002 John Wiley & Sons, Ltd.
Selected radar images of man‐made underground galleries
Authors: Lorenzo H. , Hernández M. C. , Cuéllar V. 
Published: January 2005

AbstractGround‐penetrating radar (GPR), as a high‐resolution geophysical prospecting method, has proved to be a very useful tool in archaeological site investigations, especially in the detection and identification of tunnels and galleries. This work shows seven selected profiles collected at four different archaeological sites in Spain and Mexico, with a wide variety of targets, not only in terms of their size (from 1 × 1 m to 3 × 4 m) but also in their depth (from 0.5 to 7 m). In all, 14 galleries and/or tunnels were detected. The approach to these studies was organized in two ways: firstly the presence of a known subsoil was used to compare the response of different antennae looking for these kinds of targets; secondly, GPR was used to find unknown historical galleries before any excavation took place. The equipment used in these studies were the SIR‐8, with 120 and 500 MHz monostatic antennae, and PulseEkko IV, with 100 MHz bistatic antennae. Copyright © 2002 John Wiley & Sons, Ltd.
Archaeogeophysical investigations around the Bilge Qagan monument in Khosho Tsaidam, Mongolia
Authors: Ates Abdullah 
Published: January 2005

AbstractAncient Turkish monuments in Mongolia are historically important owing to the earliest Turkish and Chinese inscriptions written on them. In this paper, magnetic and conductivity meter surveys conducted in the vicinity of the Bilge Qagan monument are presented. Magnetic and conductivity maps show rectangular shaped anomalies, which could be caused by a buried wall‐like structure or floor tiles to protect the Bilge Qagan monument. The Altar Stone, which is also described as a base for a pagoda, gives a strong magnetic anomaly. This anomaly is processed by advanced geophysical methods and it is demonstrated that the actual rock body has some form of remanent magnetization, which causes the magnetic anomaly. By means of conductivity surveying, it also can be suggested that the near‐surface formations have significant water content. Copyright © 2002 John Wiley & Sons, Ltd.
Random rates of growth and return: introducing the expo‐normal distribution
Authors: de La Grandville Olivier , Pakes Anthony G. , Tricot Claude 
Published: January 2005

AbstractExpected values and standard deviations of the geometric means of independent positive random variables are useful indicators of the long‐term profitability of an investment, or survival of a biological population. Often these quantities cannot be evaluated in a closed form, or even if they can, there may be a choice between several probability models for the ‘annual’ growth factors. This paper formulates approximations for geometric means and standard deviations. It evaluates their performance and compares the best of them with the exact values for selected probability models of the annual factors. Among these is a new model for annual log‐returns, called the expo‐normal law. This is the law of log X, where X has a normal law conditioned on X>0. Its properties are developed in some detail.It is found that for the ranges of annual means and standard deviations typically encountered in financial applications, the longer horizon values depend little on the choice of probability model, and that, where possible, exact evaluation is computationally simpler than using approximations. Copyright © 2002 John Wiley & Sons, Ltd.