bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular characterization of partial trisomy 16q24.1‐qter: Clinical report and review of the literature
Authors: Brisset S. , Joly G. , Ozilou C. , Lapierre J.‐M. , Gosset Ph. , LeLorc'h M. , Raoul O. , Turleau C. , Vekemans M. , Romana S.P. 
Published: December 2002

AbstractWe describe a 3½‐year‐old girl with psychomotor and mental retardation; dysmorphic features, including a high forehead with bitemporal narrowing; a broad nasal bridge and a broadened nose; downslanting palpebral fissures; abnormal ears; vertebral abnormalities; cardiac defect; genital hypoplasia; and anal abnormalities. The karyotype of our patient (550 bands) was normal. Molecular cytogenetic techniques, including comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), revealed that this girl was a carrier of a de novo derivative chromosome 7 arising from a cryptic t(7;16)(p22.3;q24.1) translocation generating a trisomy 16q24.1‐qter and a 7p22.3‐pter deletion. FISH with a series of specific chromosome 7p and 16q probes allowed us to delineate the chromosome 7 breakpoint between YAC660G6 (WD7S517) and YAC848A12 (D7S521, D7S31, and WI‐4829) and the chromosome 16 breakpoint between BAC457K7 (D42053) and BAC44201 (SGC30711). The comparison of the clinical features of our patient with those of 2 cases of pure terminal 7p deletion and 28 cases of trisomy 16q reported in the literature allowed us to establish the following phenotype‐genotype correlation for trisomy of the long arm of chromosome 16: distinctive facies (high/prominent forehead, bitemporal narrowing, periorbital edema in the neonatal period); severe mental retardation; vertebral, genital, and anal abnormalities to 16q24; distal joint contractures and camptodactyly to 16q23; cleft palate and renal anomalies to 16q22; beaked nose and gall bladder agenesis to 16q21; gut malrotation; lung and liver anomalies to 16q13; and behavior abnormalities to band 16q11‐q13. © 2002 Wiley‐Liss, Inc.
Expression of the dopamine transporter gene is regulated by the 3′ UTR VNTR: Evidence from brain and lymphocytes using quantitative RT‐PCR
Authors: Mill Jonathan , Asherson Philip , Browes Clare , D'Souza Ursula , Craig Ian 
Published: December 2002

AbstractGenetic association studies provide considerable evidence that the 10‐repeat allele of a variable number tandem repeat (VNTR) in the 3′‐untranslated region (3′‐UTR) of the dopamine transporter gene (DAT1) is associated with a range of psychiatric phenotypes, most notably, attention deficit hyperactivity disorder. The mechanism for this association is not yet understood, although several lines of evidence implicate variation in gene expression. In this study, we measured DAT1 messenger RNA levels in cerebellum, temporal lobe, and lymphocytes using quantitative real‐time reverse‐transcription polymerase chain reaction. Relative to a set of four control housekeeping genes (β‐actin, GAPD, ribosomal 18S, and β2‐microglobulin) we observed that increased levels of DAT1 expression were associated with the number of 10‐repeat alleles. These data provide direct evidence that the VNTR, or another polymorphism in linkage disequilibrium with the VNTR, is involved in regulating expression of this gene. © 2002 Wiley‐Liss, Inc.
Pan‐African Sanctuary Alliance: Status and range of activities for great ape conservation
Authors: Farmer Kay H. 
Published: December 2002

AbstractWhile wild populations continue to decrease, the number of orphaned primates, sanctuaries, and attempts to reintroduce primates back to the natural environment are increasing. An umbrella organization called the Pan‐African Sanctuary Alliance (PASA) was formed in 2000 and recently the IUCN Reintroduction Specialist Group developed a set of specific policy guidelines for primates (2002). Data presented in this report are based upon questionnaire responses by managers from 17 African facilities that have become members of PASA (membership in PASA is defined by attendance at an annual PASA workshop). These PASA facilities house over 500 great apes. (There may be other facilities not represented here simply because their managers did not attend a PASA workshop.) The majority of the apes arrived at the sanctuaries when they were less than 4 years old and half were confiscated. Over 40% were found awaiting sale, and 30% had been previously kept as pets. Common ailments upon arrival included internal parasites, behavioral abnormalities, and malnutrition; 20% of the total sanctuary population died prematurely. Most sanctuaries use a combination of enclosures surrounded by electric fencing and cages to accommodate the apes. Sanctuaries actively participate in conservation education, habitat protection, tourism, scientific data collection, local development, and reintroduction. The median total facility operating cost was US$65,000 per annum. The median facility cost per ape was US$2,222 per annum. Most funding comes from overseas nongovernmental agencies. Discussion focuses on evaluating the present status of sanctuaries, the problems facing them, and their potential role in African conservation issues. Am. J. Primatol. 58:117–132, 2002. © 2002 Wiley‐Liss, Inc.
Accumulation of 14‐3‐3 proteins in glial cytoplasmic inclusions in multiple system atrophy
Authors: Kawamoto Yasuhiro , Akiguchi Ichiro , Nakamura Shinichi , Budka Herbert 
Published: December 2002

AbstractGlial cytoplasmic inclusions are the pathological hallmark of multiple system atrophy. However, the molecular mechanisms underlying the formation of glial cytoplasmic inclusions remain unclear. α‐Synuclein, a major component of glial cytoplasmic inclusions, has the ability to interact with 14‐3‐3 proteins, which mediate several types of signal transduction pathways. To elucidate the role of these 14‐3‐3 proteins in patients with multiple system atrophy, we performed immunohistochemical studies on 14‐3‐3 in brain tissue specimens from 7 control subjects and from 15 patients with multiple system atrophy. In both control and multiple system atrophy cases, 14‐3‐3 immunoreactivity was observed mainly in the neuronal somata and proximal processes, as well as the nerve fibers. Even in the severely affected regions of patients with multiple system atrophy, 14‐3‐3 immunoreactivity generally was spared in the surviving neurons, some of which were strongly immunolabeled. In addition, numerous glial cytoplasmic inclusions were intensely immunostained, and neuronal cytoplasmic inclusions and dystrophic neurites were also immunoreactive for 14‐3‐3. Our results suggest that an aberrant accumulation of 14‐3‐3 proteins may occur in brains affected by multiple system atrophy, and that 14‐3‐3 proteins may be associated with the pathogenesis of multiple system atrophy. Ann Neurol 2002;52:000–000
Changes of sodium channel expression in experimental painful diabetic neuropathy
Authors: Craner Matthew J. , Klein Joshua P. , Renganathan Muthukrishnan , Black Joel A. , Waxman Stephen G. 
Published: December 2002

AbstractAlthough pain is experienced by many patients with diabetic neuropathy, the pathophysiology of painful diabetic neuropathy is not understood. Substantial evidence indicates that dysregulated sodium channel gene transcription contributes to hyperexcitability of dorsal root ganglion neurons, which may produce neuropathic pain after axonal transection. In this study, we examined sodium channel mRNA and protein expression in dorsal root ganglion neurons in rats with streptozotocin‐induced diabetes and tactile allodynia, using in situ hybridization and immunocytochemistry for sodium channels Nav1.1, Nav1.3, Nav1.6, Nav1.7, Nav1.8, and Nav1.9. Our results show that, in rats with experimental diabetes, there is a significant upregulation of mRNA for the Nav1.3, Nav1.6, and Nav1.9 sodium channels and a downregulation of Nav1.8 mRNA 1 and 8 weeks after onset of allodynia. Channel protein levels display parallel changes. Our results demonstrate dysregulated expression of the genes for sodium channels Nav1.3, Nav1.6, Nav1.8, and Nav1.9 in dorsal root ganglion neurons in experimental diabetes and suggest that misexpression of sodium channels contributes to neuropathic pain associated with diabetic neuropathy.
Cyclooxygenase 2 inhibition protects motor neurons and prolongs survival in a transgenic mouse model of ALS
Authors: Drachman Daniel B. , Frank Krystl , Dykes‐Hoberg Margaret , Teismann Peter , Almer Gabrielle , Przedborski Serge , Rothstein Jeffrey D. 
Published: December 2002

AbstractThe pathogenesis of cell death in amyotrophic lateral sclerosis (ALS) may involve glutamate‐mediated excitotoxicity, oxidative damage, and apoptosis. We used a transgenic mouse model of ALS to determine the effect of inhibition of cyclooxygenase‐2 in treating the disease. Cyclooxygenase‐2, present in spinal neurons and astrocytes, catalyzes the synthesis of prostaglandin E2. Prostaglandin E2 stimulates glutamate release from astrocytes, whereas cyclooxygenase‐2 also plays a key role in the production of proinflammatory cytokines, reactive oxygen species, and free radicals. Treatment with a selective cyclooxygenase‐2 inhibitor, celecoxib, markedly inhibited production of prostaglandin E2 in the spinal cords of ALS mice. Celecoxib treatment significantly delayed the onset of weakness and weight loss and prolonged survival by 25%. Spinal cords of treated ALS mice showed significant preservation of spinal neurons and diminished astrogliosis and microglial activation. Our results suggest that cyclooxygenase‐2 inhibition may benefit ALS patients. Ann Neurol 2002
Is the Saitohin gene involved in neurodegenerative diseases?
Authors: Verpillat Patrice , Ricard Sylvain , Hannequin Didier , Dubois Bruno , Bou Jacqueline , Camuzat Agnès , Pradier Laurent , Frebourg Thierry , Brice Alexis , Clerget‐Darpoux Françoise , Deleuze Jean‐François , Campion Dominique 
Published: December 2002

AbstractRecently, a single nucleotide polymorphism that results in an amino acid change (Q7R) was identified in a previously undescribed gene, named saitohin, nested within the tau gene. We analyzed the distribution of this polymorphism in 499 patients with Alzheimer's disease, 91 patients with frontotemporal dementia, and 402 controls. This polymorphism was in complete disequilibrium with the well‐defined extended tau haplotype. We failed to replicate the association between the RR genotype and late‐onset Alzheimer's disease, but we found a trend toward an association between the QQ genotype and frontotemporal dementia. Thus, the saitohin Q allele, which is a novel determinant of the tau H1 haplotypes, might represent a causative factor involved in the determinism of several tauopathies.
Rat forebrain neurogenesis and striatal neuron replacement after focal stroke
Authors: Parent Jack M. , Vexler Zinaida S. , Gong Chao , Derugin Nikita , Ferriero Donna M. 
Published: December 2002

AbstractThe persistence of neurogenesis in the forebrain subventricular zone (SVZ) of adult mammals suggests that the mature brain maintains the potential for neuronal replacement after injury. We examined whether focal ischemic injury in adult rat would increase SVZ neurogenesis and direct migration and neuronal differentiation of endogenous precursors in damaged regions. Focal stroke was induced in adult rats by 90‐minute right middle cerebral artery occlusion (tMCAO). Cell proliferation and neurogenesis were assessed with bromodeoxyuridine (BrdU) labeling and immunostaining for cell type‐specific markers. Brains examined 10–21 days after stroke showed markedly increased SVZ neurogenesis and chains of neuroblasts extending from the SVZ to the peri‐infarct striatum. Many BrdU‐labeled cells persisted in the striatum and cortex adjacent to infarcts, but at 35 days after tMCAO only BrdU‐labeled cells in the neostriatum expressed neuronal markers. Newly generated cells in the injured neostriatum expressed markers of medium spiny neurons, which characterize most neostriatal neurons lost after tMCAO. These findings indicate that focal ischemic injury increases SVZ neurogenesis and directs neuroblast migration to sites of damage. Moreover, neuroblasts in the injured neostriatum appear to differentiate into a region‐appropriate phenotype, which suggests that the mature brain is capable of replacing some neurons lost after ischemic injury.
Analysis of pathways mediating preserved vision after striate cortex lesions
Authors: Schoenfeld Mircea Ariel , Noesselt Toemme , Poggel Dorothe , Tempelmann Claus , Hopf Jens‐Max , Woldorff Martin G. , Heinze Hans‐Jochen , Hillyard Steven A. 
Published: December 2002

AbstractThis study investigated the neural substrates of preserved visual functioning in a patient with homonymous hemianopsia and Riddoch syndrome after a posterior cerebral artery stroke affecting the primary visual cortex (area V1). The limited visual abilities of this patient included above‐chance verbal reports of movement and color change as well as discrimination of movement direction in the hemianopic field. Functional magnetic resonance imaging showed that motion and color‐change stimuli presented to the hemianopic field produced activation in several extrastriate areas of the lesioned hemisphere that were defined using retinotopic mapping. Magnetoencephalographic recordings indicated that evoked activity occurred earlier in the higher‐tier visual areas V4/V8 and V5 than in the lower‐tier areas V2/V3 adjacent to the lesion. In addition, the functional magnetic resonance imaging analysis showed an increased functional connectivity between areas V4/V8 and V5 of the lesioned hemisphere in comparison with the same areas in the intact hemisphere during the presentation of color changes. These results suggest that visual perception after the V1 lesion in Riddoch syndrome is mediated by subcortical pathways that bypass V1 and project first to higher‐tier visual areas V5 and V4/V8 and subsequently to lower‐tier areas V2/V3.
Clinical and subclinical dopaminergic dysfunction in PARK6‐linked parkinsonism: An 18F‐dopa PET study
Authors: Khan Naheed L. , Valente Enza Maria , Bentivoglio Anna Rita , Wood Nicholas W. , Albanese Alberto , Brooks David J. , Piccini Paola 
Published: December 2002

AbstractPARK6, a locus for early‐onset recessive parkinsonism, has been causally implicated in nine unrelated families from four different countries. The gene is still unidentified and hence the importance of PARK6 as a cause of Parkinson's disease is unknown. To date, no pathology or functional imaging studies are available on PARK6‐linked parkinsonism. We have used 18F‐dopa positron emission tomography to study four patients who are homozygous and three asymptomatic relatives who are heterozygous for PARK6. The clinically affected PARK6 subjects had a similar 85% reduction in posterior dorsal putamen 18F‐dopa uptake to a group of idiopathic Parkinson's disease patients matched for clinical disease severity and duration but showed significantly greater involvement of head of caudate and anterior putamen. The group of asymptomatic PARK6 carriers showed a significant mean 20 to 30% reduction in caudate and putamen 18F‐dopa uptake in comparison with controls, individual values falling toward the bottom of the normal range. Our results indicate that PARK6 pathology results in a more uniform loss of striatal dopamine terminal function than Parkinson's disease. The subclinical loss of striatal dopamine storage capacity found in the PARK6 carriers implies that the unidentified gene on the short arm of chromosome 1 exhibits either haploinsufficency or a dominant negative effect.
Geophysical Prospection Survey of an Ancient Amphorae Workshop at Tsoukalia, Alonnisos (Greece)
Authors: Sarris A. , Athanassopoulou E. , Doulgeri‐Intzessiloglou A. , Skafida Eu. , Weymouth J. 
Published: December 2002

AbstractAt Tsoukalia, Alonnisos, there are substantial remains of a fourth century BC transport amphora production site, consisting of dense surface scatters of ceramics and kiln debris. Typological studies have shown that Tsoukalia, together with other major coastal amphora workshop centres in the area of Sporades islands, participated in a trade network extending up to the Black Sea. The archaeological investigations in the area of the workshop, initiated in 1999, included surface survey, ethnographical studies, topographic mapping, geomorphological studies and geophysical survey. Geophysical techniques included magnetic (both fluxgate gradiometer and caesium gradiometer) and electromagnetic techniques and the application of ground‐penetrating radar. Geophysical prospection was used to locate areas of specific archaeological interest and map the subsurface architectural remains of the site, enhancing the reconstruction of the diachronic land use of the site and the wider area of interest and contributing to the further understanding of the economic patterns of ancient Ikos. Copyright © 2002 John Wiley & Sons, Ltd.
A case study in the analysis of patterns of aerial reconnaissance in a lowland area of southwest Scotland
Authors: Cowley D. C. 
Published: December 2002

AbstractAnalysis of aspects of an ongoing programme of aerial reconnaissance, looking for archaeological sites revealed as cropmarks, in a lowland part of southwest Scotland has identified biases in the survey. Areas of known potential tend to be targeted at the expense of less rewarding ground, contributing to an imbalance in the known distributions of sites created by regional variations in land‐use patterns. A relationship between areas with a high density of sites, in a year of exceptional cropmark formation, and a high incidence of sites that have not been adequately recorded also can be identified. The ongoing assessment of survey data is a key factor in offsetting the impact of such biases in the longer term, recognizing the active role of survey methods in data creation and the importance of understanding the biases inherent in data. Copyright © Crown Copyright 2002. Recorded with the permission of the controller of Her Majesty's Stationery Office. Published by John Wiley & Sons, Ltd.
Perceived social support from significant others, family and friends and several socio‐demographic characteristics
Authors: Prezza Miretta , Giuseppina Pacilli Maria 
Published: December 2002

AbstractThe first aim was to explore the relationship between socio‐demographic characteristics and perceived support from significant others, family and friends. Zimet, Dahlem, Zimet, and Farley's Multidimensional Scale of Perceived Social Support (MSPSS) (Journal of Personality Assessment, 52, 1988, 30–41) was administered to 418 males and 623 females between 18 and 77 years of age. The results indicate that family support is higher in males, and the support of friends decreases with age as does the support of significant others. Significant interactions also emerged between gender and age and between gender and marital status. No differences were found for educational level. The second aim was to discover which persons are identified as ‘special persons’ on the items of the ‘Significant others’ sub‐scale of the MSPSS. Copyright © 2002 John Wiley & Sons, Ltd.
Reduction in vascular access site bleeding in sequential abciximab coronary intervention trials
Authors: Blankenship James C. , Balog Craig , Sapp Shelly K. , Califf Robert M. , Lincoff A. Michael , Tcheng James E. , Topol Eric J. 
Published: December 2002

AbstractWe analyzed vascular access site bleeding from the EPIC, EPILOG, and EPISTENT trials to quantify the decrease in vascular bleeding complications in these three trials, especially those attributable to abciximab. The incidence of combined major and minor vascular access site bleeding in nonabciximab (heparin plus placebo) patients progressively decreased from EPIC (8.2%) to EPILOG (2.9%) to EPISTENT (1.7%; P < 0.001). Combined major and minor vascular access site bleeding in abciximab (heparin plus abciximab) patients decreased from EPIC (20%) to EPILOG (5.8%) to EPISTENT (2.2%; P < 0.001). There were more major vascular access site bleeds with abciximab compared to placebo in EPIC (odds ration 3.2; P < 0.001) but not in EPILOG or EPISTENT. Modified abciximab and heparin dosing and improved vascular access site management strategies have decreased the risk of vascular access bleeding during coronary intervention and have essentially eliminated the excess access site bleeding associated with abciximab. Cathet Cardiovasc Intervent 2002;57:476–483. © 2002 Wiley‐Liss, Inc.
Delayed appearance of coronary artery perforation following cutting balloon angioplasty
Authors: Maruo Takeshi , Yasuda Satoshi , Miyazaki Shunichi 
Published: December 2002

AbstractCoronary artery perforation is a potential complication of percutaneous coronary intervention (PCI). It usually develops immediately following PCI, particularly when an atheroablate device is used. We report a case in which coronary artery perforation developed 4 days after PCI with a nondebulking device, a cutting balloon catheter. Cathet Cardiovasc Intervent 2002;57:529–531. © 2002 Wiley‐Liss, Inc.
Identifying the course of an anomalous left coronary artery using contrast‐enhanced electron beam tomography and three‐dimensional reconstruction
Authors: Sevrukov Alexander , Aker Nidal , Sullivan Christopher , Jelnin Vladimir , Candipan Robert C. 
Published: December 2002

AbstractCoronary anomalies are a rare but recognized cause of myocardial ischemia and sudden death. Until recently, invasive coronary arteriography was the diagnostic method of choice. However, contrast‐enhanced electron beam tomography has the advantage of three‐dimensional visualization of anomalous coronary arteries. We describe a case of anomalous origin of the left coronary artery. Cathet Cardiovasc Intervent 2002;57:532–536. © 2002 Wiley‐Liss, Inc.
Efficacy and feasibility of helixcision for debulking neointimal hyperplasia for in‐stent restenosis
Authors: Nakamura Mamoo , Fitzgerald Peter J. , Ikeno Fumiaki , Honda Yasuhiro , Sousa J. Eduardo , Abizaid Alexandre , de Brito Fábio S. , Tofte Arne , Grube Eberhard , Patterson Greg R. , Yock Paul G. , Yeung Alan C. , Carter Andrew J. 
Published: December 2002

AbstractThe Helixcision system is a novel 6 Fr–compatible catheter designed to debulk tissue for in‐stent restenosis lesions. The purpose of this study was to determine the efficacy and feasibility of this new system for removing neointimal hyperplasia. A total of 32 in‐stent restenosis lesions in 32 patients were treated with helixcision followed by balloon angioplasty. Debulking efficacy was assessed with serial baseline intravascular ultrasound (IVUS) in a subset of 18 lesions. To investigate longitudinal efficacy, 3D analysis was also performed in 12 lesions with automated pullback to calculate average cross‐sectional areas across the stent. Prior to procedure, the angiographic reference diameter was 2.60 ± 0.46 mm. Immediately after procedure, minimum lumen diameter improved from 0.84 ± 0.33 to 2.19 ± 0.41 mm (P < 0.0001). IVUS showed a significant reduction of intimal area (IA) after helixcision (from 4.95 ± 2.04 to 2.88 ± 1.48 mm2; P < 0.001). Adjunctive balloon angioplasty further improved lumen area (LA) mainly by stent expansion rather than IA reduction at the site of minimum lumen area. The degrees of IA reduction and LA improvement were closely similar in volumetric analysis. Thirty‐day and 6‐month clinical follow‐up were available in 97% (n = 31) and 72% (n = 23) of the enrolled patients, respectively. At 30‐day follow‐up, no major adverse cardiac event was reported except for periprocedural CK elevation in two patients (6%). Target legion revascularization within 6 months was performed in six patients (26%). Preliminary results of helixcision indicate that this system is safe and feasible for the treatment of in‐stent restenosis. The concordant results between 2D and 3D IVUS analyses suggest that this unique technology can achieve uniform longitudinal debulking throughout the stent. The long‐term outcomes appeared to be favorable, considering the relatively diffuse lesion morphology. Cathet Cardiovasc Intervent 2002;57:460–466. © 2002 Wiley‐Liss, Inc.