bluuebunny/crossref_metadata_2025_split huggingface dataset:
Vertical price leadership: A cointegration analysis
Authors: Kuiper W. Erno , Meulenberg Matthew T.G. 
Published: October 2002

AbstractHere we detail a method to test whether or not retailers allow suppliers to set the wholesale price not only on the basis of the costs faced by the suppliers but also on the basis of consumer demand. Using standard theory, long‐run price relationships between the stages in the channel are derived. Next, these static price relationships are imposed on a dynamic model to be tested for cointegration and long‐run noncausality, embedding the hypotheses on vertical price leadership. To derive the testable implications of these hypotheses, we show that the common stochastic trend and long‐run equilibrium error must explicitly be assigned to variables in the channel model. The model is particularly relevant for industries characterized by a low degree of product differentiation. An empirical application to two Dutch marketing channels for food products gives comprehensible results. [EconLit citations: C32, L12, Q11] © 2002 Wiley Periodicals, Inc.
Hyperhomocysteinemia and cobalamin deficiency in young Asian Indians in the United States
Authors: Carmel Ralph , Mallidi Padmaja V. , Vinarskiy Simon , Brar Shabneet , Frouhar Zohreh 
Published: October 2002

AbstractHyperhomocysteinemia, a risk factor for vascular disease, may be a particular problem in Asian Indians, but information is limited, especially in the U.S., despite its growing Asian population. Moreover, suggestions have been made that folate deficiency is responsible for the hyperhomocysteinemia in Indians. Therefore, we studied homocysteine status in healthy Asian Indians in the U.S. prospectively, determined the frequency of cobalamin and folate deficiency as contributors to it, and examined whether food—cobalamin absorption contributed to cobalamin deficiency. Homocysteine levels were higher in Asian Indian men than in 4 other ethnic groups (P < 0.0001); 10/39 Indian men (25.6%) were hyperhomocysteinemic. Cobalamin levels were lower in Indian men (P = 0.000005) and women (P = 0.03) than in non‐Indians; low levels were found more frequently in both Indian men (23/39; 59.0%) and women (5/21; 23.8%) than in others. Measuring methylmalonic acid in 10 selected subjects showed that the low cobalamin levels reflected cobalamin deficiency, and high methylmalonic acid levels were found in some subjects without hyperhomocysteinemia. Evidence of folate deficiency was not found in any subjects. Food–cobalamin absorption was normal in all 13 Indian subjects tested, including those with Helicobacter pylori infection. The results show that hyperhomocysteinemia is strikingly common in apparently healthy, young Asian Indian men. The cause appears to be cobalamin deficiency, which affected more than half of the Indian men, may be largely subclinical, is underestimated by homocysteine levels alone which were not always abnormal, and is probably largely dietary in origin. Folate deficiency is rare. This public health problem is amenable to prevention and treatment in this growing segment of the U.S. population. It was, parenthetically, noteworthy that many of the affected subjects were young physician trainees. Am. J. Hematol. 70:107–114, 2002. © 2002 Wiley‐Liss, Inc.
Acquired pulmonary alveolar proteinosis after umbilical cord blood transplantation for acute myeloid leukemia
Authors: Tomonari Akira , Shirafuji Naoki , Iseki Tohru , Ooi Jun , Nagayama Hitomi , Masunaga Atsuko , Tojo Arinobu , Tani Kenzaburo , Asano Shigetaka 
Published: October 2002

AbstractPulmonary alveolar proteinosis (PAP) is a heterogeneous disease that occasionally develops with hematological malignancy. However, PAP in association with hematopoietic stem cell transplantation is quite rare. Here we present the first report of a patient who developed PAP after cord blood transplantation (CBT). A 45‐year‐old female with AML underwent unrelated CBT. On day +2 after CBT she developed congestive heart failure with diffuse alveolar infiltrates in the bilateral lungs. Despite treatment, the alveolar infiltrates further increased with progression of multiple organ failure (MOF). She died from MOF before hematopoietic recovery on day +27. Post‐mortem study revealed that massive amorphous materials positive for periodic acid‐Schiff stain filled in the pulmonary alveoli. These findings led to a diagnosis of PAP. The bone marrow was hypocellular without the leukemic cells. The impaired immunity during the period of leukopenia as well as the impaired clearance of surfactant proteins might contribute to the development of PAP. Am. J. Hematol. 70:154–157, 2002.© 2002 Wiley‐Liss, Inc.
Estimation of the incidence of pleural mesothelioma according to death certificates in France
Authors: Iwatsubo Y. , Matrat M. , Michel E. , Boutin C. , Galateau‐Salle F. , Jougla E. , Bignon J. , Pairon J.C. , Brochard P. 
Published: October 2002

AbstractBackgroundThe number of cases of pleural mesothelioma in France has varied substantially according to methods of assessment.Materials and MethodsWe collected information from certifying physicians about 316 subjects who died between 1 July 1992 and 30 June 1993 in three regions of France with a cause of death coded as ICD‐9 category 163. The ICD codes selected as the cause of death for 178 deaths between 1 January 1987 and 31 December 1992 histologically confirmed and diagnosed as pleural mesothelioma by an expert committee were examined. Finally, we used this information to estimate the number of deaths from pleural mesothelioma in France in 1992.ResultsIn Part I, 45% (men: 54%; women: 28%) of the cases coded as ICD‐9 section 163 were definitely or probably mesothelioma; 18% (men: 16%; women: 21%) possibly mesothelioma; and 37% (men: 30%; women: 51%) other tumors, primarily adenocarcinoma metastases. In Part II, 74% of the confirmed pleural mesotheliomas were coded in category 163 (men: 75%; women: 70%). Extrapolation nationwide indicated that 902 deaths were coded as ICD‐9 163 in 1992: 521 cases involved definite or probable mesothelioma and 724 definite, probable, and possible cases.ConclusionsThe analysis of this sample suggests that estimating the number of mesothelioma cases from the cause‐of‐death statistics may overestimate their incidence, but that death certificates appeared to report the diagnosis of histologically confirmed mesothelioma accurately. Am. J. Ind. Med. 42:188–199, 2002. © 2002 Wiley‐Liss, Inc.
Association analysis of a polymorphism in the G‐protein stimulatory α subunit in patients with major depression*
Authors: Zill Peter , Baghai Thomas C. , Zwanzger Peter , Schüle Cornelius , Minov Christo , Behrens Stefanie , Rupprecht Rainer , Möller Hans‐Jürgen , Engel Rolf , Bondy Brigitta 
Published: October 2002

AbstractGrowing evidence suggests that G‐proteins may be involved in pathogenesis and treatment of affective disorders. Several studies have reported altered levels and/or activities of stimulatory G‐proteins in depression. The aim of this study was to investigate whether a polymorphism in the stimulatory α subunit of G‐proteins (T/C point mutation in exon 5; ATT → ATC at codon 131) is associated with major depression or response to antidepressant treatment. Therefore, we performed a case‐control association study with 212 depressive patients and 137 healthy, unrelated controls. There was no evidence for an association between the investigated polymorphism in the Gαs gene and major depression, as well as to treatment response. The results of our study are in concordance with recently published findings which do not support the hypothesis that the gene for the stimulatory α subunit of G‐proteins is a major susceptibility factor in the pathophysiology of major depression. © 2002 Wiley‐Liss, Inc.
Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: Implication for ring chromosome formation
Authors: Muroya Koji , Yamamoto Keiichi , Fukushima Yoshimitsu , Ogata Tsutomu 
Published: October 2002

AbstractWe report on r(21) chromosome in a boy and a der(21) chromosome in his mother. Cytogenetic studies revealed a mosaic 45,XY[4]/46,XY,r(21)[96] karyotype in the boy and a 46,XX,der(21)[100] karyotype in the mother. Fluorescence in situ hybridization analysis for D21Z1 at the centromere, AML1 at 21q22.1, LSI21 at 21q22.2, and 21qtel at the telomere region showed that the r(21) chromosome retained single copies of D21Z1, AML1, and LSI21 and lacked the 21qtel, whereas the der(21) chromosome had two copies of the 21qtel on both of its ends and single copies of D21Z1, AML1, and LSI21, with a paracentric inversion of AML1 and LSI21 (21qtel–D21Z1–LSI21–AML1–21qtel). Microsatellite analysis for nine loci on 21q22.3 indicated that the r(21) chromosome was missing a distal 21q22.3 region involving D21S1890, D21S1411, and D21S1903 with no maternally derived alleles, and that the der(21) chromosome was associated with duplication of a distal 21q22.3 region encompassing D21S1890 and D21S1446. The results suggest that a U‐type exchange occurred between the homologous distal 21q regions duplicated on the der(21) chromosome, leading to the r(21) formation. This is a novel mechanism put forward for the formation of a monocentric ring chromosome. © 2002 Wiley‐Liss, Inc.
Kabuki syndrome: Report of six Thai children and further phenotypic and genetic delineation
Authors: Shotelersuk Vorasuk , Punyashthiti Rachaneekorn , Srivuthana Sumarlee , Wacharasindhu Suttipong 
Published: October 2002

AbstractWe describe six Thai children with the Kabuki syndrome. Monozygotic twin boys discordant for the syndrome were encountered in a family. The affected twin had all five cardinal features of the syndrome, whereas the unaffected twin had none of them. The presence of monozygotic twins discordant for the syndrome argues against a single gene origin of the disorder, but by no means excludes it. In another family, a mother had a facial appearance similar to her affected son. Lower lip pits with or without symmetrical lower lip nodules were present in three of the six children, and pilonidal sinus was seen in five children. These clinical manifestations were much more common than previously described. Other inconsistent findings included early eruption of the lower central incisors, a skin defect of the head, and transient hyperthyrotropinemia in infancy. © 2002 Wiley‐Liss, Inc.
Mosaic trisomy 9 and lobar holoprosencephaly
Authors: Gérard‐Blanluet Marion , Danan Claude , Sinico Martine , Lelong Françoise , Borghi Elsa , Dassieu Gilles , Janaud Jean‐Claude , Odent Sylvie , Encha‐Razavi Férechté 
Published: October 2002

AbstractThe main features of trisomy 9 syndrome in mosaic and non‐mosaic forms have been thoroughly described. Characteristic traits are low‐set malformed ears, micrognathia, broad nose with bulbous tip, abnormal brain, congenital heart defects, abnormal hands and feet, genital abnormalities, and early death. We report a case of mosaic trisomy 9 with holoprosencephaly (HPE). The propositi was born at 37 weeks, with intra‐uterine growth retardation, hypotelorism and single nostril, ventricular septal defect, anterior placement of anus, clenched hands with thumb adduction and ulnar deviation. Facial anomalies characteristic of trisomy 9 included deeply set eyes and short palpebral fissures, flat face with maxillary hypoplasia, small mouth, and low‐set posteriorly angulated ears. Cytogenetic analysis showed mosaic trisomy 9 with 17% trisomic cells. Pathology confirmed lobar HPE. In literature, isolated arrhinia, related to the HPE spectrum, was reported in one case of mosaic trisomy 9. Our case raises the question of the causative role of trisomy 9 in full blown HPE. © 2002 Wiley‐Liss, Inc.
Familial Axenfeld‐Rieger anomaly, cardiac malformations, and sensorineural hearing loss: A provisionally unique genetic syndrome?
Authors: Grosso S. , Farnetani M.A. , Berardi R. , Vivarelli R. , Vanni M. , Morgese G. , Balestri P. 
Published: October 2002

AbstractAxenfeld‐Rieger anomaly (ARA) is an autosomal dominant disorder of the anterior chamber of the eye that includes a prominent and anteriorly displaced Schwalbe line and an iridocorneal synechiae, and is associated with iris hypoplasia, corectopia, and hole formation. Extraocular developmental abnormalities, especially of the teeth, facial bones, and periumbilical skin, have also been reported with ARA, in the context of the so‐called Axenfeld‐Rieger syndrome (ARS). Genetic heterogeneity exists, as ARA maps to chromosome 6p25, whereas ARS can be linked to both chromosome 4q25 and chromosome 13q14. Here we describe a new family in which ARA is associated with cardiac malformations and sensorineural hearing loss. No abnormalities of the teeth, facial bone, or periumbilical skin, which are considered of paramount importance in the diagnosis of ARS, were observed in our patients. Genetic studies will clarify if these patients represent a unique phenotypic expression of ARS or constitute the clinical presentation of a new genetic syndrome. © 2002 Wiley‐Liss, Inc.
Association analysis of an (AC)n repeat polymorphism in the GABAB receptor gene and schizophrenia
Authors: Imai Koubun , Harada Shoji , Kawanishi Yoichi , Tachikawa Hirokazu , Okubo Takehito , Asada Takashi 
Published: October 2002

AbstractThe human γ‐aminobutyric acid type B (GABAB) receptor gene is a candidate gene for schizophrenia due to its chromosomal location and neurobiologic roles. In the present study, association analyses of genetic polymorphisms of the GABAB receptor gene with schizophrenia were carried out in 102 unrelated schizophrenic patients and 100 healthy controls, using a polymerase chain reaction‐based, single‐strand conformational polymorphism analysis. Although the Ala20Val and Gly489Ser mutations were not found in our samples, we found a novel polymorphism of (AC)n dinucleotide repeats located approximately 1.6 kb upstream from the translational start site. No significant difference in allele frequencies was found between controls and patients with schizophrenia (P = 0.0587) using the Monte Carlo method. Significant differences were found between controls and patients with continuous‐course schizophrenia (P = 0.0019), and between controls and patients with a positive family history of psychoses (P = 0.0015). These differences, however, were not significant after Bonferroni correction. These data did not support our hypothesis that polymorphisms of the GABAB receptor gene may confer vulnerability for schizophrenia. © 2002 Wiley‐Liss, Inc.
Evidence for parent of origin effect in late‐onset Alzheimer disease
Authors: Bassett Susan Spear , Avramopoulos Dimitrios , Fallin Daniele 
Published: October 2002

AbstractEvidence for a parent of origin effect in Alzheimer disease was obtained from a sample of 148 sibships on which affection status of the parents was sought using family history interviews. The parent study recruited families with two or more affected sibs for late onset AD utilizing rigorous diagnostic criteria. In 74 families, there was evidence of an affected parent, 49 maternal and 25 paternal. Genome scan data were analyzed for the sample as a whole and for the maternal and paternal families separately, using Genehunter‐ASM. Seven regions with Zlr scores ≥2 were identified, four in maternal families (chr. 10,12,19,20) and three in paternal families (chr. 1,7,13). With the exception of the chromosome 10 finding, analysis by parent of origin greatly increased evidence of linkage in areas showing no linkage in the overall analyses. For example, a chr. 12 region reached a LOD = 2.29 among maternal families whereas the same region showed a LOD = 0.3 when all families were analyzed together. The strongest findings among maternal families (chr. 10 and 12) were followed up with fine mapping that resulted in an increase in maximum LOD scores from 2.7–3.2 on chr. 10, and 2.29–2.42 on chr. 12. These analyses highlight the importance of parent of origin effects in late‐onset AD families and identify several genomic regions that may include genes linked to late‐onset AD specific to disease transmission from the mother and require further investigation. © 2002 Wiley‐Liss, Inc.
Rearrangements of chromosome 15 in epilepsy
Authors: Torrisi Loredana , Sangiorgi Eugenio , Russo Lisa , Gurrieri Fiorella 
Published: October 2002

AbstractA number of observations point to chromosome 15 as a good candidate to harbor genes involved in epilepsy. This hypothesis is supported by at least two lines of evidence: one is the finding that haploinsufficiency of the 15q11‐q13 region, of maternal origin, is responsible for Angelman syndrome, one of the cardinal manifestations of which is epilepsy; the second is the observation that extra copies of this same genomic region, in the form of inv‐dup(15) or intrachromosomal duplications, again of maternal origin, are usually associated with a severe neurological phenotype characterized by developmental delay and untreatable seizures. Therefore, both reduced and increased dosage of genes from the 15q11‐q13 region, possibly subjected to maternal imprinting, appear to be causally involved in severe forms of epilepsy. We tested the hypothesis that submicroscopic rearrangements of this genomic region might be responsible for nonsyndromic epilepsy in both familial and sporadic forms. To this purpose, we genotyped 118 epileptic patients and their parents with closely spaced microsatellite markers mapped within the 15q11‐q13 region. We report on the results of these studies and review the relevant literature. © 2001 Wiley‐Liss, Inc.
Genes and mutations in idiopathic epilepsy
Authors: Steinlein Ortrud K. 
Published: October 2002

AbstractPartial or generalized idiopathic epilepsies, which account for up to 40% of all epilepsies, are characterized by a mostly benign course and no apparent etiology other than a genetic predisposition. So far, the genetic defects underlying three different idiopathic epilepsy syndromes have been identified: mutations in the CHRNA4‐ or CHRNB subunits of the neuronal nicotinic acetylcholine receptor are found in familial nocturnal frontal lobe epilepsy, while defects in the voltage‐gated potassium channels KCNQ2 and KCNQ3 have recently been identified in benign familial neonatal convulsions. The syndrome of “generalized epilepsy with febrile seizures plus” can be caused by mutations affecting the voltage‐gated sodium channel subunits SCN1B and SCN1A or the γ2‐subunit of the GABAA receptor. The results of recent molecular studies contributed largely to our understanding of the etiology and pathophysiology of idiopathic epilepsies. © 2001 Wiley‐Liss, Inc.
Genetic assessment of a white‐collared×red‐fronted lemur hybrid zone at Andringitra, Madagascar
Authors: Wyner Yael M. , Johnson Steig E. , Stumpf Rebecca M. , Desalle Rob 
Published: October 2002

AbstractWe examined a purported lemur (Eulemur fulvus rufus×E. albocollaris) hybrid zone at Andringitra, Madagascar, using sequences from five genes (one mitochondrial gene (d‐loop) and four nuclear introns (hemopexin, malic enzyme, ceruloplasmin, and microsatellite 26 flanking region)), from 60 individuals (E. albocollaris (n = 16), E.f. rufus (n = 14), E. collaris (n = 9), and purported hybrids from Andringitra (n = 21)). Diagnostic (d‐loop and microsatellite 26) and private sites (all other genes) were found in all gene regions for E. albocollaris and E.f. rufus. Also, private sites were found for the purported hybrid population in two gene regions (d‐loop and ceruloplasmin). When the putative hybrids were examined for diagnostic and private markers, 18 of 21 were found to contain markers from both E. albocollaris and E.f. rufus populations. The remaining three individuals were found to contain only markers for E. albocollaris. These results indicate that the population at Andringitra is a hybrid population between E. albocollaris and E.f. rufus. © 2002 Wiley‐Liss, Inc.
A physiological change in the homotopic cortex following left posterior temporal lobe infarction
Authors: Leff Alexander , Crinion Jennifer , Scott Sophie , Turkheimer Federico , Howard David , Wise Richard 
Published: October 2002

AbstractWe investigated the relationship between cerebral activity (measured with positron emission tomography) and word rate in normal subjects and aphasic patients listening to monosyllabic words at rates up to those encountered in normal speech. By measuring the slope of the regression of the individual activity–word rate responses in the temporal cortex in normal subjects, we identified a functional asymmetry in the posterior superior temporal sulcus. The response was greater (steeper) on the left. Using the same study design, we identified a steeper activity–word rate response in the right posterior superior temporal sulcus of patients who had recovered single‐word auditory comprehension after infarction of the left posterior temporal cortex. This response was significantly different from that observed in both normal subjects and a group of patients with left hemisphere infarcts that spared the posterior temporal cortex. The results demonstrated a change in physiological responsiveness in the contralateral homotopic cortex after posterior temporal infarction.
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13
Authors: Viollet Louis , Barois Annie , Rebeiz Jean G. , Rifai Ziad , Burlet Philippe , Zarhrate Mohammed , Vial Elodie , Dessainte Michel , Estournet Brigitte , Kleinknecht Bernard , Pearn John , Adams Raymond D. , Urtizberea Jon A. , Cros Didier P. , Bushby Kate , Munnich Arnold , Lefebvre Suzie 
Published: October 2002

AbstractDistal spinal muscular atrophy is a heterogeneous group of neuromuscular disorders caused by progressive anterior horn cell degeneration and characterized by progressive motor weakness and muscular atrophy, predominantly in the distal parts of the limbs. Here we report on chronic autosomal recessive distal spinal muscular atrophy in a large, inbred family with onset at various ages. Because this condition had some of the same clinical features as spinal muscular atrophy with respiratory distress, we tested the disease gene for linkage to chromosome 11q and mapped the disease locus to chromosome 11q13 in the genetic interval that included the spinal muscular atrophy with respiratory distress gene (D11S1889‐D11S1321, Zmax = 4.59 at θ = 0 at locus D11S4136). The sequencing of IGHMBP2, the human homologue of the mouse neuromuscular degeneration gene (nmd) that accounts for spinal muscular atrophy with respiratory distress, failed to detect any mutation in our chronic distal spinal muscular atrophy patients, suggesting that spinal muscular atrophy with respiratory distress and chronic distal spinal muscular atrophy are caused by distinct genes located in the same chromosomal region. In addition, the high intrafamilial variability in age at onset raises the question of whether nonallelic modifying genes could be involved in chronic distal spinal muscular atrophy.
Anti‐Hu antibodies in Merkel cell carcinoma
Authors: Greenlee John E. , Steffens John D. , Clawson Susan A. , Hill Kenneth , Dalmau Josep 
Published: October 2002

AbstractAnti‐Hu antibody is an antineuronal autoantibody found in a subset of patients with paraneoplastic neurological disease. The antibody was first associated with small cell carcinoma of the lung and is most often used as a marker for this neoplasm in patients presenting with suspected paraneoplastic syndromes. Here we report a patient with a multifaceted neurological disorder in the setting of Merkel cell carcinoma. The patient's serum contained antibodies against the Hu antigen, and the expression of the Hu antigen was demonstrated in the patient's tumor.