bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mapping Plus Ultra: Cartography, Space, and Hispanic Modernity
Authors: Padrón Ricardo 
Published: February 2004

THE HISTORY OF CARTOGRAPHY in the early modern period has been tied in particular ways to the emergence of both imperialism and modernity. At the center of this argument lie the gridded scale maps that Europeans learned to make in the wake of their rediscovery of Ptolemy's Geography. These new maps supported the emergence of abstract space as a centerpiece of a new spatiality - a spatiality that in turn supported, in both theory and practice, the reterritorialization of the extra-European world for European ends. My paper interrogates this argument by examining Spanish attempts to map the Americas during the years 1492 to 1580. It identifies a cartographic culture steeped in late medieval figures of space, one that suggests continuity rather than rupture between the Middle Ages and the origins of European imperialism.
Many Spanish mapmakers were engaged with some of the most sophisticated problems posed by the new, Ptolemaic cartography.These specialists, however, represented only a small minority of Spanish mapmakers. Although the abstract spatiality that informed their practice proved to be the emerging cultural trend, this spatiality was not hegemonic in early modern Spanish culture as a whole. Both philological and cartographic evidence drawn from outside the circle of specialists suggests that an alternative spatiality was also at play, one that was rooted in the itineraries of travel rather than the planar extensions of geometry.This linear spatiality had its roots in late medieval travel narrative and so-called way-finding maps. It is this spatiality that is most common in Spanish attempts to figure the wider world.
This argument should not be understood as an essay in Hispanic particularity. Spain functions as a test-case here, and no claim is made that its linear spatiality is unique to Hispanic culture. What may be unique to Spain is the persistence of this spatiality beyond the year 1580, when the cartographic revolution took root much more deeply in northern than in southern Europe. Nonetheless, its near-ubiquity in the first ninety years of Spanish Americana suggests that the association we have made among abstract spatiality, modernity, and imperialism has been misplaced. Although it may be genuine, it must be understood as an attempt to rationalize empire after the fact, not as a cultural prop of an original imperial impulse.
Toward A Renewed Sociological Jurisprudence: From Roscoe Pound to Herbert Blumer and Beyond
Authors: Lyman Stanford M. 
Published: February 2004

This article, based on the Distinguished Lecture presented on August 21, 2001, at the annual meeting of the Society for the Study of Symbolic Interaction in Anaheim, California, proposes a synthesis of Herbert Blumer's macrosociological perspective on the race question with Roscoe Pound's philosophy and science of law (i.e., his so‐called sociological jurisprudence), Joseph Tussman's and Jacobus tenBroek's juridical methodology, and Philip Selznick's sociology of responsive law. The compound so produced will help to establish a foundation for a praxiological sociology of American constitutional law. The article focuses on the problem of legislative‐made “classifications” and their relations to the legitimate public purposes entailed in the enactment of statutes, laws, and decrees. Such classifications become problematic when they are said to be “underinclusive,” “over‐inclusive,” or both in seeking to effect their aims. Strategic research sites for this issue are racial and ethnic classifications that single out one or a limited cluster of racial or ethnic groups for special benefits (“affirmative action”) or restitution (“reparations”). Calling for a reinvigoration of Pound's pragmatic approach to sociological jurisprudence, I show how Blumer's analysis of the “color line”—when seen in relation to the original intent of the makers of the Thirteenth, Fourteenth, and Fifteenth post‐Civil War Amendments to the U.S. Constitution and, using Tussman's and tenBroek's showing of how such categorizations might be both methodically evaluated and applied to the challenged classifications—provides grounds for reconsidering whether the latter are instances of “reverse discrimination” and, hence, violations of the constitutional requirement of “equal protection of the law.”The science of law is a science of social engineering having to do with that part of the whole field which may be achieved by the ordering of human relations through the action of politically organized society.—Roscoe Pound, Justice According to LawWe did not hold it necessary to wait for nature to put a canal across the Isthmus of Panama, and we shall not much longer hold it necessary to wait for nature to dig the legal canals that will give security to neglected human interests which clamor for recognition and protection.—Roscoe Pound, “Juristic Problems of National Progress”
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1
Authors: Schwabe Georg C. , Türkmen Seval , Leschik Gundula , Palanduz Sukru , Stöver Brigitte , Goecke Timm O. , Mundlos Stefan 
Published: January 2004

AbstractBrachydactyly type C (BDC) is characterized by shortening of the middle phalanges of the index, middle, and little finger with hyperphalangy, usually of the index and middle finger. Heterozygous mutations of the cartilage derived morphogenetic protein‐1 (CDMP1) resulting in a loss of function have been reported in BDC. We here describe a large kindred with a semi‐dominant form of BDC and pronounced ulnar deviation of the second and third digits. In this family a novel homozygous missense mutation was identified (517A > G) changing methionine to valine at amino acid position 173. The mutation is located within a highly conserved seven amino acid region of the prodomain of CDMP1. Hand radiographs of heterozygous mutation carriers showed mild shortening of the metacarpals IV and V; a finding confirmed by the analysis of their metacarpophalangeal profiles (MCPPs). The mutation described here points toward an important function of the prodomain for the folding, secretion, and availability of biologically active CDMP1. © 2003 Wiley‐Liss, Inc.
Pre‐ and postnatal diagnosis of limb anomalies: A series of 107 cases
Authors: Holder‐Espinasse Muriel , Devisme Louise , Thomas Dominique , Boute Odile , Vaast Pascal , Fron Damien , Herbaux Bernard , Puech Francis , Manouvrier‐Hanu Sylvie 
Published: January 2004

AbstractThis is a 3‐year retrospective study of 107 cases presenting with limb anomalies detected either on prenatal ultrasound scan, or after birth. These limb malformations are developmental anomalies, and can be isolated, syndromic, or associated with multiple malformations. Cases were ascertained through the prenatal diagnosis center, the pediatrics department, and the feto‐pathology department. Several criteria were analyzed including sex ratio, prenatal diagnosis, karyotype, termination of pregnancies, clinical or pathological examination, pediatric or surgical and/or genetic assessment, and whether or not a diagnosis was made. Positional deformities and syndactyly were excluded. Limb anomalies were detected prenatally in 45% of the cases, and a diagnosis was made in 78%, including isolated, syndromic, or chromosomal anomalies. Sixty‐one per cent of the infants had follow‐up, either pediatric, surgical, or genetic. Prenatal multidisciplinary assessment is fundamental to assist with counseling, as is the post‐natal follow‐up of the infant. The diagnosis, if made, will obviously influence the information that will be given to the parents and the management of the malformation. If the pregnancy is terminated, feto‐pathological examination is essential to help make a diagnosis, and guide recurrence risks. We are currently undertaking a prospective study, and we will develop a protocol of investigations in the future, depending on the type of the malformation identified. © 2003 Wiley‐Liss, Inc.
Impact of BRCA1/2 testing and disclosure of a positive test result on women affected and unaffected with breast or ovarian cancer
Authors: van Roosmalen Mariëlle S. , Stalmeier P.F.M. , Verhoef L.C.G. , Hoekstra‐Weebers J.E.H.M. , Oosterwijk J.C. , Hoogerbrugge N. , Moog U. , van Daal W.A.J. 
Published: January 2004

AbstractTo evaluate the impact of BRCA1/2 testing and disclosure of a positive test result on women affected and unaffected with cancer. Longitudinal cohort study including women affected and unaffected with breast or ovarian cancer testing for a BRCA1/2 mutation. Data on well‐being (anxiety, depression, cancer related distress, general health), treatment choice, and decision making about cancer prevention were collected at baseline (1 week after blood sampling; affected n = 192, unaffected n = 176) and at follow‐up (2 weeks after disclosure of a positive test result; affected n = 23, unaffected n = 66). Women affected and unaffected with breast or ovarian cancer were compared using univariate statistics. Change over time was examined using repeated measures analysis of variance. With respect to well‐being, affected women scored worse at baseline. At follow‐up, both affected and unaffected women experienced a decline in well‐being, which tended to be stronger in affected women. Women diagnosed with cancer less than 1 year previously tended to report a worse well‐being than those diagnosed longer ago. With respect to treatment choice, more affected women intended to obtain prophylactic surgery and valued it higher at both time points. With respect to decision making, affected women had a lower preference for participation in decision making at baseline; no differences were found at follow‐up. At follow‐up, both affected and unaffected women showed an increase in strength of treatment preference and a decrease in decision uncertainty. Disclosure of a positive test result had a negative impact on well‐being. Affected women, especially those who have been recently diagnosed with cancer, experienced the worst well‐being and could benefit from psychosocial support. © 2003 Wiley‐Liss, Inc.
Fryns syndrome: A review of the phenotype and diagnostic guidelines
Authors: Slavotinek Anne M. 
Published: January 2004

AbstractFryns syndrome (FS) is the commonest autosomal recessive syndrome associated with congenital diaphragmatic hernia (CDH) and comprises CDH, pulmonary hypoplasia, craniofacial anomalies, distal limb hypoplasia, and internal malformations. Although there have been more than 50 case reports on probands with FS, the diagnostic guidelines were formulated from a review of eight patients and modifications to the guidelines have only once been suggested. Recently, several case reports have described new anomalies in FS and other papers have highlighted the variation in expressivity found in FS. This paper examines the medical literature on FS to define the phenotype and to review the diagnostic guidelines. We conclude that CDH with brachytelephalangy and/or nail hypoplasia is strongly suggestive of the diagnosis and that pulmonary hypoplasia, craniofacial dysmorphism, orofacial clefting, and polyhydramnios are sufficiently frequent to be diagnostically useful. Other distinctive malformations that are consistent with FS include ventricular dilatation or hydrocephalus, agenesis of the corpus callosum, neuronal or cerebellar heterotopias, abnormalities of the aorta, renal cysts, dilatation of the ureters, bicornuate uterus, renal dysplasia, proximal thumbs, and broad clavicles. © 2003 Wiley‐Liss, Inc.
Constitutional trisomy 8 mosaicism due to meiosis II non‐disjunction in a phenotypically normal woman with hematologic abnormalities
Authors: Baidas Said , Chen T‐J. , Kolev Valentin , Wong Lee‐Jun , Imholte Joel , Qin Naigeng , Meck Jeanne 
Published: January 2004

AbstractConstitutional trisomy 8 mosaicism (CT8M) in liveborns is typically caused by mitotic non‐disjunction and exhibits wide phenotypic variability. By contrast, CT8M due to meiotic errors usually results in miscarriage. We describe a case of CT8M due to a paternal meiosis II non‐disjunction error. The patient, a 32‐year‐old woman, was phenotypically normal except for a history of recurrent aphthous ulcers since childhood and a 4‐year history of macrocytosis. The ulcers were refractory to steroids, but responded well to thalidomide. To the best of our knowledge, this is the first report of CT8M due to meiotic non‐disjunction in a phenotypically normal individual. © 2003 Wiley‐Liss, Inc.
Growth hormone deficiency (GHD): A new association in Peters' plus syndrome (PPS)
Authors: Lee Kuk‐Wha , Lee Phillip D. K. 
Published: January 2004

AbstractWe report a case of a girl with clinical features of Peters' Plus Syndrome (PPS) (association of anterior eye chamber defects; peculiar facies; cleft lip/palate; brachymelia; developmental delay; growth retardation) and documented growth hormone deficiency (height −3.5 SDS at chronological age 5 years 8 months; low growth factors; bone age delay; growth velocity 4.4 cm/year (<3rd centile); and peak growth hormone levels of 1.7 and 4.7 ng/ml by clonidine and insulin provocative testing, respectively). Treatment with recombinant human growth hormone (0.3 mg/kg/week) resulted in a dramatic increase in growth velocity, increasing the height from −3.5 to −1.5 SDS over 2.3 years of therapy, indicative of an excellent response. Growth retardation is a known association in PPS: a condition that includes other midline facial defects. This case supports a role for GHD in the pathogenesis of the short stature observed in these children; demonstrates the efficacy of GH treatment; and further reinforces the relationship of pituitary anomalies with common congenital defects. © 2003 Wiley‐Liss, Inc.
Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14
Authors: Skrypnyk Cristina , Bartsch Oliver 
Published: January 2004

AbstractWe report on a 10‐year‐old boy with a normal karyotype and a chromosome 13q14 deletion of the retinoblastoma gene (RB1) by fluorescence in situ hybridization (FISH). He showed subtle signs of overgrowth, including macrocephaly, hepatomegaly, and inguinal hernia. The boy also had cryptorchism and mild developmental delay. In his first months of life, variant Wiedemann–Beckwith syndrome was tentatively suspected and he was included in a careful tumor prevention program. At the age of 11 months, bifocal retinoblastoma of the left eye was diagnosed. Pinealoma was suspected at the age of 19 months and was removed by neurosurgery at the age of 29 months. At 4 years and 4 months, the deletion of the RB1 gene was suspected on clinical grounds and was diagnosed by FISH and molecular studies. At that time, he was a near‐normal healthy playful kindergarten child, height 107 cm (−0.3 SD), OFC 52.5 cm (+0.8 SD), developmental age 3–3.5 years. The combination of retinoblastoma, pinealoma, and deletion of the RB1 gene diagnosed by FISH has not been reported previously. The deletion spans at least 370–420 kb in size and is predicted to include proximal and distal neighbor genes. This report may assist in establishing the clinical signs of the contiguous gene syndrome at the RB1 locus on 13q14. © 2003 Wiley‐Liss, Inc.
Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy
Authors: Moretti Paolo , Blazo Maria , Garcia Leonardo , Armstrong Dawna , Lewis Richard Alan , Roa Benjamin , Scaglia Fernando 
Published: January 2004

AbstractAn 11‐year‐old boy was evaluated for progressive ataxia, cognitive deterioration, and ophthalmoplegia. The child initially presented with abnormal eye movements at the age of 2 months and was noted to have developmental delay at 6 months. At the age of 7 years, he developed ataxia and cognitive impairment, and subsequently manifested dysphagia and incontinence. The pertinent family history included gait difficulty in the paternal grandmother. At the age of 11, his general physical examination was normal. On neurological examination, he had bilateral external ophthalmoplegia, ataxic dysarthria, dysmetria and tremor in the upper extremities, and marked gait ataxia. An ophthalmological evaluation showed no evidence of pigmentary retinopathy. Brain MRI demonstrated cerebellar, brainstem, and cerebral atrophy. An ataxia panel showed 62 repeats in one allele of the SCA2 gene. Most cases of spinocerebellar ataxia type 2 (SCA2) present between 20 years and 40 years, and affected individuals typically have between 34 and 57 CAG repeats. Neonatal cases of SCA2 have been reported in individuals with over 200 CAG repeats. Childhood SCA2 has been reported previously in two patients but not described clinically. This case broadens the spectrum of the clinical features of infantile‐onset SCA2 and highlights the importance of considering this diagnosis in infants and children. © 2003 Wiley‐Liss, Inc.
Antenatal manifestations of Smith‐Lemli‐Opitz (RSH) syndrome: A retrospective survey of 30 cases
Authors: Goldenberg Alice , Wolf Claude , Chevy Françoise , Benachi Alexandra , Dumez Yves , Munnich Arnold , Cormier‐Daire Valérie 
Published: January 2004

AbstractSmith‐Lemli‐Opitz (SLO) syndrome or RSH syndrome is an autosomal recessive multiple malformation, and mental retardation syndrome ascribed to 7‐dehydrocholesterol reductase deficiency, and usually diagnosed in the early postnatal period. Reviewing a series of 30 cases of SLO, we have investigated the variable antenatal expression of the disorder. Intrauterine growth retardation (IUGR) was the most frequent detectable trait (20/30). IUGR was either isolated (9/20) or associated with at least one other anomaly (11/20), including nuchal edema, renal, cardiac, cerebral malformations, genital anomalies, or polydactyly. In this last group, 3/11 presented with multiple malformations (≥3 anomalies). In 5/30 cases, isolated nuchal edema (3/30), and isolated cardiac (1/30) or renal malformations (1/30) were the only detectable anomalies. Ultrasound findings were considered normal in 5/30 cases and were abnormal in 25/30 cases (83%), but early detection of multiple malformations was rare (3/30, 10%). We suggest giving consideration to a more systematic sterol analysis when dealing with IUGR, especially when associated anomalies are detected. © 2003 Wiley‐Liss, Inc.
Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation
Authors: Gropman Andrea , Chen Tian‐Jian , Perng Cherng‐Lih , Krasnewich Donna , Chernoff Edith , Tifft Cynthia , Wong Lee‐Jun C. 
Published: January 2004

AbstractLeber hereditary optic neuropathy (LHON)/pediatric onset dystonia is associated with a G to A transition at nucleotide position (np) 14459, within the mitochondrial DNA (mtDNA)‐encoded ND6 gene. This mutation has been reported in families presenting with LHON alone, LHON plus dystonia, or pediatric dystonia with typical age of onset less than 5 years. The mutation changes a moderately conserved alanine to a valine at amino acid residue 72, which is within the most evolutionarily conserved region of the ND6 protein. Pediatric onset disease is associated with basal ganglia dysfunction, spasticity, and encephalopathy. We report a family with G14459A mtDNA mutation and a broad spectrum of clinical manifestation. The proband was a 3‐year‐old girl with anarthria, dystonia, spasticity, and mild encephalopathy. MRI of the brain demonstrated bilateral, symmetric basal ganglia lucencies associated with cerebral and systemic lactic acidosis. Her maternal first cousin presented with a new onset limp and mild hemiparesis along with similar MRI findings with a much milder phenotype. Additional investigation of the family members with the mutation has revealed both asymptomatic and symptomatic individuals with variable clinical and laboratory features of mitochondrial disease. This study re‐emphasizes the heterogeneous clinical manifestation of homoplasmic G14459A mtDNA mutation even within the same family, and supports the hypothesis that nuclear genes may play a role in modifying the clinical expression of mitochondrial disease. Published 2003 Wiley‐Liss, Inc.
New 19 bp deletion polymorphism in intron‐1 of dihydrofolate reductase (DHFR): A risk factor for spina bifida acting in mothers during pregnancy?
Authors: Johnson William G. , Stenroos Edward S. , Spychala John R. , Chatkupt Sansnee , Ming Sue X. , Buyske Steven 
Published: January 2004

AbstractUp to 72% of spina bifida cystica (SB) is preventable by maternal periconceptual folic acid supplementation. The C677T allele of the methylenetetrahydrofolate reductase (MTHFR) gene and some other functional polymorphisms are risk factors for SB in some populations. However, despite extensive study, the genetic risk factors for SB are incompletely understood. Polymorphic alleles that diminish bioavailability of reduced folate in the mother during pregnancy could contribute to SB in her fetus, acting in the mother as teratogenic alleles. We recently discovered a polymorphic 19 bp deletion allele (frequency 0.45) within intron‐1 of dihydrofolate reductase (DHFR) that is a good candidate for such a genetic factor. Since there is precedence for intron‐1 regulatory elements and the deletion allele removes a potential Sp1 transcription factor binding site, we hypothesized that the deletion allele could be functional and act in SB mothers to increase the risk of SB in her fetus. We found that homozygosity for this deletion allele was significantly more frequent in SB mothers, but not in SB fathers or patients, compared with controls and was associated with a significantly increased odds ratio (OR) (2.035) of being an SB mother compared with other genotypes. Genotype distribution obeyed the constraints of Hardy–Weinberg equilibrium in controls, SB patients and fathers, but not in SB mothers. If confirmed, these findings could lead to improved forms of folate supplementation for pregnancy. About half of dietary folates and all of folic acid supplements must be reduced by DHFR to be available for mother and fetus. Reduced folates could be preferable for supplements during pregnancy to prevent SB. © 2003 Wiley‐Liss, Inc.
Chemie in Mikrostrukturreaktoren
Authors: Jähnisch Klaus , Hessel Volker , Löwe Holger , Baerns Manfred 
Published: January 2004

AbstractMikrostrukturreaktoren haben in den letzten Jahren in der chemischen Verfahrenstechnik deutlich an Bedeutung gewonnen: Erste Firmen, die Prozessanlagen mit Mikrostrukturreaktoren anbieten, sind am Markt, eine Reihe von Instituten erforscht dieses Gebiet, Universitäten bieten Lehrveranstaltungen an, und einige verfahrenstechnisch orientierte Übersichtsartikel liegen bereits vor. Mikrostrukturierte Systeme sind besonders wertvoll für die Untersuchung stark exothermer schneller Reaktionen. Durch isotherme Betriebsweise lassen sich viele thermisch induzierte Nebenreaktionen zurückdrängen, was sicherheitstechnische Vorteile bei Reaktionen mit gefährlichen Reaktanten bringt. Obwohl viele organische Synthesen mit besseren Ergebnissen als in konventionellen Reaktoren durchgeführt wurden, ist der Mikrostrukturreaktor‐Technologie der große Durchbruch in der präparativen Chemie noch nicht gelungen. Aus diesem Grund unterstreicht dieser Aufsatz die Vorteile von Mikrostrukturreaktoren bei Flüssigphasen‐, Gasphasen‐ und Gas‐Flüssigphasen‐Reaktionen.