bluuebunny/crossref_metadata_2025_split huggingface dataset:
Differential Modulation of Cellular Signaling Pathways by Mild and Severe Hypovirus Strains
Authors: Parsley Todd B. , Chen Baoshan , Geletka Lynn M. , Nuss Donald L. 
Published: December 2002

ABSTRACT

Hypoviruses persistently alter multiple phenotypic traits, stably modify gene expression, and attenuate virulence (hypovirulence) of their pathogenic fungal host, the chestnut blight fungus
Cryphonectria parasitica
. The pleiotropic nature of these changes is consistent with hypovirus-mediated perturbation of one or more cellular signal transduction pathways. We now report that two hypoviruses that differ in the severity of symptom expression differentially perturb specific cellular signaling pathways. The
C. parasitica 13-1
gene, originally identified as a hypovirus-inducible and cyclic AMP (cAMP)-regulated gene, was used to design a promoter-GFP reporter construct with which to monitor perturbation of cAMP-mediated signaling. Virus-mediated modulation of calcium/calmodulin/inositol trisphosphate-dependent signaling was monitored by measuring transcript accumulation from the
C. parasitica
laccase gene,
lac-1
. Infection by the severe hypovirus strain CHV1-EP713 caused a substantial induction of
13-1
promoter activity and a reduction of total extracellular laccase enzymatic activity (LAC-1 and LAC-3). In contrast,
13-1
promoter activity and total laccase activity were only marginally altered upon infection with the mild hypovirus strain CHV1-Euro7. However, examination of
lac-1
-specific transcript accumulation under previously defined culture conditions revealed that both CHV1-EP713 and CHV1-Euro7 perturbed calcium/calmodulin/inositol trisphosphate-dependent signaling. CHV1-EP713/CHV1-Euro7 chimeric viruses were used to map viral determinants responsible for modulation of cAMP-dependent signaling to domains within the central portion of the second open reading frame.
Drowning in Finland: “external cause” and “injury” codes
Authors: Lunetta P , Penttilä A , Sajantila A 
Published: December 2002

Background:TheInternational Classification of Diseases(ICD) external codes (E codes) for drowning assist in determining the primary event leading to drowning, but do not alone allow the precise determination of the overall drowning rates.Aims:To analyze the sensitivity of the ICD E codes for drowning. To describe the pattern and trend of drowning deaths that are classified with E codes other than for drowning.Setting:Finland, 1969–2000.Methods:Mortality files of Statistics Finland were searched electronically using the injury codes (I codes) and E codes for drowning. Cross analysis of I and E coded drownings was performed to determine the rate and pattern of drowning cases classified with E codes other than for drowning. Time trends were calculated using the Poisson regression model.Results:Of 13 705 drowning deaths, 644 (4.7%) were not identified with the E codes for drowning. The great majority (n=547, 84.9%) of these cases were traffic accidents resulting in drowning. No significant time trends were found even after the introduction, in 1996, of the ICD 10th revision.Conclusions:In Finland, underestimation of overall drowning rates using the E code alone is less pronounced than in countries where similar studies have been performed. The relatively high rate of transport accidents resulting in drowning indicates a specific target for preventive countermeasures.
Modulation of Growth Factor/Cytokine Synthesis and Signaling by 1α,25-Dihydroxyvitamin D3: Implications in Cell Growth and Differentiation
Authors: Gurlek Alper , Pittelkow Mark R. , Kumar Rajiv 
Published: December 2002

AbstractDistinct from its classic functions in the regulation of calcium and phosphorus metabolism as a systemic hormone, 1α,25-dihydroxyvitamin D3 [1α,25(OH)2D3] is involved in the local control and regulation of cellular growth and differentiation in various tissues, including epidermis (keratinocytes) and bone (osteoblasts and osteoclasts). In this review, the impact of 1α,25(OH)2D3 on growth factor/cytokine synthesis and signaling is discussed, particularly as it pertains to bone cells and keratinocytes. 1α,25(OH)2D3 not only regulates growth factor/cytokine synthesis but may also alter growth factor signaling. Recently discovered examples for such interactions are the interactions between the vitamin D receptor and the mothers against decapentaplegic-related proteins that function downstream of TGFβ receptors. Inhibitory effects of 1α,25(OH)2D3 on keratinocytes through TGFβ activation and IL-1α, IL-6, and IL-8 suppression may provide a rationale for its beneficial effects in the treatment of hyperproliferative skin disorders, whereas stimulatory effects through the epidermal growth factor-related family members and platelet-derived growth factor may be operative in its beneficial effects in skin atrophy and wound healing. Modulation of cytokines and growth factors by 1α,25(OH)2D3 during bone remodeling plays an important role in the coupling of osteoblastic bone formation with osteoclastic resorption to maintain bone mass.
Formation of delusional ideation in adolescents hearing voices: A prospective study
Authors: Escher Sandra , Romme Marius , Buiks Alex , Delespaul Philippe , van Os Jim 
Published: December 2002

AbstractPrevious work suggests that auditory hallucinations in children and adolescents occur frequently in the absence of psychotic illness, although a number of such children go on to develop more severe psychotic symptomatology and need for care. We examined prospectively what factors are associated with formation of delusions in adolescents who are hearing voices. Eighty adolescents (mean age 12.9 years, SD = 3.1) who reported hearing voices were examined at baseline and followed‐up three times over a period of 3 years. Fifty percent were receiving professional care, but 50% were not in need of care. Baseline measurement of voice appraisals, attributions, psychopathology, global functioning, dissociation, stressful life events, coping mechanisms, and receipt of professional care were used as predictors of delusion formation, measured as a score of 6 or greater on the extended BPRS items: “suspiciousness,” “unusual thought content” and “grandiosity.” Thirteen children (16%) displayed evidence of delusional ideation over at least one of the three follow‐up periods, of which seven (9%) de novo. Adjusting for presence of baseline delusional ideation, delusion formation over the follow‐up period was associated with baseline voice appraisals and attributions such as tone of the voice (hazard ratio voice “variably friendly and hostile” compared to “always friendly”: HR = 6.8, 95% CI: 1.1, 41.0), perceived location of the voice (outside vs. inside head: HR = 2.9, 95% CI: 1.0, 8.7), and whether the voice resembled that of a parent (HR = 3.5, 95% CI: 1.0, 12.0); baseline BPRS anxiety/depression (HR = 6.4, 95% CI: 1.9, 21.4), baseline BPRS disorganization (HR = 5.0, 95% CI: 0.98, 26.1) and the baseline amount of reported recent stressful life events (HR continuous life events score: 1.8, 95% CI: 1.0, 3.3). In addition, in older children, the perceived influence of the voices on emotions and behavior was strongly associated with delusion formation (HR = 5.1, 95% CI: 1.0, 25.9). Delusion formation in children hearing voices may be responsive to triggering events and facilitated by feelings of anxiety/depression. The results also highlight the role of attributions associated with external sources, authority figures, perceived influence or “power” over the person, as well as emotional appraisal processes and cognitive disorganization. © 2001 Wiley‐Liss, Inc.
Clinical characteristics of adolescents later hospitalized for schizophrenia
Authors: Weiser Mark , Knobler Haim Y. , Noy Shlomo , Kaplan Zeev 
Published: December 2002

AbstractIntellectual and behavioral abnormalities, non‐psychotic psychiatric disorders, and drug abuse are sometimes present in adolescents who later develop schizophrenia. We followed a population‐based cohort of adolescents with baseline assessments of intellectual and behavioral functioning, non‐psychotic psychiatric disorders and drug abuse, and ascertained future hospitalization for schizophrenia. Results of the medical and mental health assessments on 16‐ to 17‐year‐old male adolescents screened by the Israeli Draft Board, were cross‐linked with the National Psychiatric Hospitalization Case Registry, which contains data on all psychiatric hospitalizations in the country. Male adolescents who were later hospitalized for schizophrenia had significantly poorer test scores on all measures in comparison with adolescents not reported to the Psychiatric Registry, the magnitude of the differences was 0.3–0.5 standard deviation (SD). Adolescents (1.03%) of assigned a non‐psychotic psychiatric diagnosis, compared to of the adolescents without any psychiatric diagnosis (0.23%), were later hospitalized for schizophrenia. Patients with schizophrenia (26.8%), compared to only 7.4% in the general population of adolescents, had been assigned a non‐psychotic psychiatric diagnosis in adolescence (overall OR = 4.5, 95% CI = 3.6–5.6), ranging from OR = 21.5, (<2 >95% CI = 12.6–36.6) for schizophrenia‐spectrum personality disorders to OR = 3.6 (<2 >95% CI = 2.1–6.2) for neurosis. The prevalence of self‐reported drug abuse was higher in adolescents later hospitalized for schizophrenia (12.4%), compared to the prevalence of drug abuse in adolescents not later hospitalized (5.9%); adjusted RR = 2.033, 95% CI = 1.322–3.126. These results reflect the relatively common finding of impaired intellectual and behavioral functioning, the presence of non‐psychotic psychiatric disorders, and drug abuse, in adolescents later hospitalized for schizophrenia, together with the relatively low power of these disorders in predicting schizophrenia. © 2002 Wiley‐Liss, Inc.
De Vries BBA, Breedveld GJ, Deelen WH, Breunning MH, Niermeijer MF, Heutink P. 2002. Another family with nonspecific X‐linked mental retardation (MRX78) maps to Xp11.4‐p11.23. Am J Med Genet 111:443–445
Authors: de Vries Bert B.A. , Breedveld Guido J. , Deelen Wouter H. , Breuning Martijn H. , Niermeijer Martinus F. , Heutink Peter 
Published: December 2002

AbstractThe original article to which this Erratum refers was published in American Journal of Medical Genetics (2002) 111(4) 443–445.
Vulnerability to schizophrenia: Relevance of patients' subjective experience for empirical and clinical work
Authors: Bovet Pierre , Gamma Franziska 
Published: December 2002

AbstractEfforts are being made by clinicians and researchers to accurately delineate phenotypic traits of individuals at enhanced risk of schizophrenia. This issue is important for a better understanding of the etiopathogenic mechanisms of the disease and for the building up of programs of primary prevention. We suggest that disturbances of subjective experience, although difficult to operationalize, are an important—but until now neglected—core component of schizophrenia spectrum disorders. We advocate the development of valid and reliable instruments in order to allow the assessment of basic symptoms and disturbances of Self‐experience. Delineation of vulnerability to schizophrenia cannot rely solely on neuropsychological and neurophysiological data, as prevention programs will be performed mainly by clinicians. © 2002 Wiley‐Liss, Inc.
Schizophrenia: Two‐faced meaning of vulnerability
Authors: Azorin Jean‐Michel , Naudin Jean 
Published: December 2002

AbstractThe authors stress the current two‐faced meaning of vulnerability that conveys both an objective and a subjective direction of sense, leading to a naturalistic model as well as a humanistic one. These models are heirs of both the Kraepelinian and Bleulerian conceptions of schizophrenia. Coping strategies and resilience are core concepts of the humanistic model. Research on these protective factors may be of major importance in the current debate on prevention in schizophrenia. © 2002 Wiley‐Liss, Inc.
What does the Edinburgh high‐risk study tell us about schizophrenia?
Authors: Johnstone Eve C. , Lawrie Stephen M. , Cosway Richard 
Published: December 2002

AbstractThe Edinburgh High Risk Study concerns 162 young people aged 16 to 25 at ascertainment who have at least two close relatives with schizophrenia. They are compared with two control groups (1) of age‐matched well subjects and (2) of age‐matched subjects with first schizophrenic episodes. The interim results show that schizophrenia has developed in 10 high‐risk subjects and no controls and that all categories of psychopathology are more marked in the high‐risk subjects. Psychopathology shows no relationships with measures of genetic liability. Neuropsychological measures are most impaired in the individuals with first‐episode schizophrenia, with high‐risk subjects performing better and well controls better still. The greater the genetic liability of the high‐risk subjects, the poorer the neuropsychological performance. Neuropsychological impairments occurred in more high‐risk subjects than are expected to develop schizophrenia. Structural brain scans show significant differences between those with first‐episode schizophrenia, high‐risk subjects, and well controls. Brain structure is related to genetic liability in that high‐risk subjects with higher genetic liability have smaller right and left prefrontal lobes and smaller right and left thalami. In those high‐risk subjects with two scans, there was a significantly greater reduction in temporal lobe size in those with psychotic symptoms than in those without. It is suggested that in high‐risk subjects, the change from vulnerability to psychosis may be preceded by reduction in size and deteriorating function of the temporal lobe. © 2002 Wiley‐Liss, Inc.
Spectrum of dolichospondylic dysplasia: Two new patients with distinctive findings
Authors: Elliott Alison M. , Graham John M. , Curry Cynthia J.R. , Pal Tuya , Rimoin David L. , Lachman Ralph S. 
Published: December 2002

AbstractDolichospondylic dysplasia (DD) is a rare skeletal dysplasia primarily characterized by tall vertebral bodies and disproportionate short stature. Radiographic manifestations include tall vertebral bodies and gracile bones of the hands. Patients usually have eye and ear findings in addition to borderline mental retardation; however, tall vertebral bodies and slender tubular bones are also seen in the 3‐M syndrome. Patients with the 3‐M syndrome have a characteristic face with a triangular shape, frontal bossing, a flattened malar region, full eyebrows, a short nose with a bulbous tip, upturned nares, and full lips. We present two unrelated patients who share a distinct phenotype and have tall vertebral bodies, overtubulation of long bones, and short tubular bones of the hands and feet. We discuss the overlapping and distinguishing features between DD and the 3‐M syndrome. Patient 1 was a 13‐year‐old female, and patient 2 was an unrelated adult female. These patients had normocephaly and short stature. They shared a common phenotype consisting of mild malar hypoplasia, a narrowed nasal body with a fleshy tip, full lips, and normal intelligence. In addition, they showed mild hand and foot abnormalities. These two patients lack many of the typical clinical features of both DD and the 3‐M syndrome. They share a common phenotype and likely represent a distinct disorder. The spectrum of disorders with tall vertebral bodies as a key feature may include different entities that may be further defined with the characterization of the molecular defect(s). © 2002 Wiley‐Liss, Inc.
Stable dicentric duplication‐deficiency chromosome 14 resulting from crossing‐over within a maternal paracentric inversion
Authors: Lefort Geneviève , Blanchet Patricia , Belgrade Nabia , Rivier François , Chaze Anne Marie , Sarda Pierre , Demaille Jacques , Pellestor Franck 
Published: December 2002

AbstractWe report on the extremely rare occurrence of a stable dicentric duplication‐deletion chromosome 14 in a viable offspring with multiple malformations and developmental delay. This abnormality was derived from a maternal paracentric inversion in the long arm of chromosome 14. Both classical and molecular cytogenetic techniques were used to perform the chromosomal investigation of this structural abnormality. The immunofluorescent labeling of centromeric proteins shows only one functional centromere on the rearranged chromosome 14. The present observation confirms that paracentric inversions may lead to stable recombinant chromosomes. © 2002 Wiley‐Liss, Inc.
Conceptualization of vulnerability models for schizophrenia: Historical aspects
Authors: Berner Peter 
Published: December 2002

AbstractThe conceptualization of vulnerability started around the middle of the 19th century with the emergence of the theories of degeneration that attributed mental disorders to a hereditarily transmitted predisposition reducing the individual psychological resistance. This condition was considered to be the basis of all “endogenous psychoses” whose different types were considered to be caused by additional pathoplastic influences. During the first half of the 20th century the idea of degeneration was abandoned and affective and schizophrenic disorders were conceived as different genetically caused diseases. Further research indicated that the propensity to develop a schizophrenic disorder may sometimes be caused by acquired etiological factors. In both cases it has been observed that this predisposition manifests itself as an overt illness only under the impact of environmental stress. This enhanced attempts to investigate more precisely the different factors implicated in the genesis of the “vulnerability” for schizophrenia and to determine more precisely the conditions that precipitate the clinical manifestation of disorders diagnosed as schizophrenic. In this perspective several vulnerability models for schizophrenia as well as for its subsyndromes have been proposed. Despite these efforts, the question whether schizophrenic disorders are caused by a specific predisposition or are only dimensions of an “unitary psychosis” has not yet been definitively resolved. © 2002 Wiley‐Liss, Inc.
Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay
Authors: Andersson Hans C. , Kratz Lisa , Kelley Richard 
Published: December 2002

AbstractDesmosterol (cholesta‐5,24‐dien‐3β‐ol) is a minor sterol that forms as an intermediate in the cholesterol biosynthetic pathway when the 24‐unsaturated sterol bond is reduced as the last step rather than earlier in the conversion of lanosterol to cholesterol. In 1998, FitzPatrick et al. reported a premature infant who died shortly after birth and had marked tissue elevations of desmosterol and a strikingly abnormal phenotype. We describe here the first living patient with desmosterolosis and show biochemical evidence in plasma and cultured lymphoblasts for an autosomal recessive deficiency of 24‐dehydrocholesterol reductase (DHCR24). The infant has severe microcephaly, agenesis of the corpus callosum, downslanting palpebral fissures, micrognathia, submucous cleft palate, clubfoot, and a persistent patent ductus arteriosus. Plasma sterol quantification in the patient at age 2 years demonstrated a normal cholesterol level, but a 100‐fold increased level of desmosterol (60 mcg/ml; nl 0.5 ± 0.3 mcg/ml (SD)) suggesting deficient activity of 24‐dehydrocholesterol (desmosterol) reductase (DHCR24). Both parents had mildly increased levels of desmosterol in plasma (mother: 1.4 mcg/ml; father: 1.8 mcg/ml), consistent with heterozygosity for DHCR24 deficiency. Analysis of sterol metabolism in cultured transformed lymphoblasts showed a 100‐fold increased level of desmosterol and a moderately decreased level of cholesterol in the patient's cells and a 10‐fold elevation of desmosterol in the mother's cells. At the age of 3.5 years, the patient stands but does not walk, uses a 5‐word vocabulary, and lacks any major medical problems. This unique patient broadens the spectrum of inborn errors of cholesterol biosynthesis and suggests additional candidate clinical phenotypes associated with abnormal cholesterol metabolism. © 2002 Wiley‐Liss, Inc.
Western lowland gorilla diet and resource availability: New evidence, cross‐site comparisons, and reflections on indirect sampling methods
Authors: Doran Diane M. , McNeilage Alastair , Greer David , Bocian Carolyn , Mehlman Patrick , Shah Natasha 
Published: December 2002

AbstractWe describe the resource availability and diet of western lowland gorillas (Gorilla gorilla gorilla) from a new study site in the Central African Republic and Republic of Congo based on 3 years of study. The results, based on 715 fecal samples and 617 days of feeding trails, were similar to those reported from three other sites, in spite of differences in herb and fruit availability. Staple foods (consumed year‐round) included high‐quality herbs (Haumania), swamp herbs (when present), and a minimal diversity of fruit. A variety of fruits (average of 3.5 species per day and 10 per month) were selectively consumed; gorillas ignored some common fruits and incorporated rare fruits to a degree higher than predicted based on availability. During periods of fruit abundance, fruit constituted most of the diet. When succulent fruits were unavailable, gorillas used low‐quality herbs (i.e., low‐protein), bark, and more fibrous fruits as fallback foods. Fibrous fruit species, such as Duboscia macrocarpa and Klainedoxa gabonensis, were particularly important to gorillas at Mondika and other sites as fallbacks. The densities of these two species are similar across sites for which data are available, in spite of major differences in forest structure, suggesting they may be key species in determining gorilla density. No sex difference in diet was detected. Such little variation in western lowland gorilla diet across sites and between sexes was unexpected and may partly reflect limitations of indirect sampling. Am. J. Primatol. 58:91–116, 2002. © 2002 Wiley‐Liss, Inc.
Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2
Authors: Klünemann Hans H. , Elleder Milan , Kaminski Wolfgang E. , Snow Karen , Peyser Janis M. , O'Brien John F. , Munoz David , Schmitz Gerd , Klein Helmfried E. , Pendlebury William W. 
Published: December 2002

AbstractThis is the first description of slowly progressive Niemann–Pick disease type C (NPC) without the typical lysosomal storage in bone marrow and viscera in two descendants of a group of 17th century French‐Canadians. The index patient was a married 43‐year‐old woman with onset of dementia in her thirties, later followed by the development of ataxia and athetoid movements. Her autopsy disclosed frontal lobe atrophy, neurolysosomal storage with oligolamellar inclusion and tau‐positive neurofibrillary tangles. Of the 119 family members screened, only a married 42‐year‐old sister displayed symptoms of a dementia. Both women displayed vertical supranuclear ophthalmoplegia; expressive aphasia; concrete, stimulus‐bound, perseverative behavior; and impaired conceptualization and planning. Cultured fibroblasts showed decreased cholesterol esterification and positive filipin staining, but no mutation was detected in coding or promoter regions of the NPC1 gene using conformation sensitive gel electrophoresis and sequencing. Sequencing showed a homozygous gene mutation that is predicted to result in an amino acid substitution, V39M, in the cholesterol binding protein HE1 (NPC2). Adult‐onset NPC2 with lysosomal storage virtually restricted to neurons represents a novel phenotypic and genotypic variant with diffuse cognitive impairment and focal frontal involvement described for the first time. Ann Neurol 2002;52:000–000