bluuebunny/crossref_metadata_2025_split huggingface dataset:
Suicide attempts in schizophrenia and affective disorders with relation to some specific demographical and clinical characteristics
Authors: Müller Daniel J. , Barkow Katrin , Kovalenko Svetlana , Ohlraun Stephanie , Fangerau Heiner , Kölsch Heike , Lemke Matthias R. , Held Tilo , Nöthen Markus M. , Maier Wofgang , Heun Reinhard , Rietschel Marcella 
Published: September 2004

AbstractDemographical and clinical characteristics have been reported to modulate the risk for suicide. This study analysed demographical and clinical characteristics with respect to lifetime suicide attempts in 500 individuals affected with schizophrenic or affective disorders. Suicide attempts were associated with poor premorbid social adjustment, low age at onset, low scores on the “Global Assessment Scale” and childlessness in females.
Earthquake-related psychological distress and associated factors 4 years after the Parnitha earthquake in Greece
Authors: Livanou Maria , Kasvikis Yiannis , Başoğlu Metin , Mytskidou Pashalia , Sotiropoulou Vivi , Spanea Efrosyni , Mitsopoulou Titika , Voutsa Nikoletta 
Published: September 2004

AbstractExposure to earthquakes has been associated with psychological distress and in particular the development of post-traumatic stress disorder (PTSD). Earthquake-related psychological distress can be longstanding. The present study involved 157 Greek survivors of the 1999 Parnitha earthquake assessed approximately 4 years after the earthquake. Assessments were based on the Traumatic Stress Symptom Checklist (TSSC). Using stringent calibrations for the estimation of symptom presence 25% of the survivors endorsed at least 5 and 12% at least 10 TSSC symptoms. Approximately 22% of the survivors reported subjective distress and 15% impaired adjustment due to their symptoms. Intensity of fear during the earthquake and participation in rescue operations related to greater post-earthquake psychological distress. The results suggest that the psychological consequences of earthquakes can be serious and long-standing even when the magnitude of the earthquake is moderate. Psychological treatments that have been proven to reduce fear and PTSD symptoms need to be made available to the survivors. Such treatments may also increase the survivors' psychological preparedness and emotional resilience in view of future earthquakes.
Integrating quality management practices with knowledge creation processes
Authors: Linderman Kevin , Schroeder Roger G. , Zaheer Srilata , Liedtke Charles , Choo Adrian S. 
Published: September 2004

AbstractSeveral quality thought leaders have considered the role of knowledge in quality management practices. For example, Deming proposed The Deming System of Profound Knowledge™ that dealt explicitly with knowledge. However, various authors in the quality field diverge considerably when contemplating knowledge. We propose an integrated view of quality and knowledge using Nonaka's theory of knowledge creation. This integrated view helps illuminate how quality practices can lead to knowledge creation and retention. The knowledge perspective also provides insight into what it means toeffectivelydeploy quality management practices. Previous empirical research noted the importance of effective deployment, but provided little insight into what effective deployment means. This research argues that quality management practices create knowledge, which leads to organizational performance. Taking a knowledge‐based view (KBV) of the firm provides a deeper understanding of why some organizations are more successful at deploying quality management practices than others.
Recruitment of osteoclast precursors by stromal cell derived factor‐1 (SDF‐1) in giant cell tumor of bone
Authors: Liao Ted S. , Yurgelun Matthew B. , Chang Seong‐Sil , Zhang Hui‐Zhu , Murakami Koko , Blaine Theodore A. , Parisian May V. , Kim William , Winchester Robert J. , Lee Francis Young‐In 
Published: September 2004

AbstractGiant cell tumor (GCT) of bone is a unique bone lesion that is characterized by an excessive number of multinucleated osteoclasts. GCT consists of neoplastic stromal cells, multinucleated osteoclasts and their precursors, thus serving as a naturally occurring human disease model for the study of osteoclastogenesis. It still remains unclear how stromal cells of GCT recruit osteoclast precursors. In the present study, we characterized the cellular components of GCT and confirmed the presence of CD14+ ‐monocytes/CD68+ ‐macrophages and CD34+ ‐hematopoetic stem cells that express CXCR4, a specific receptor for SDF‐1; SDF‐1 gene expression and presence of SDF‐1 protein were confirmed by real time RT‐PCR, in situ hybridization, and immunohistochemistry in the GCT tissue and cultured cells. SDF‐1 was present at 25–50 ng/ml in the conditioned media from the GCT cultures, which is in the range of physiological chemotactic concentration. Migration of osteoclast precursors was 2.5‐fold higher in response to GCT conditioned media compared to the control media; and migration was inhibited by an average of 36% with anti‐SDF‐1 neutralizing antibody or competing recombinant SDF‐1. These results suggest that SDF‐1 is one of the significant chemoattractant factors involved in the recruitment of hematopoietic osteoclast precursor cells during tumor‐induced osteoclastogenesis. © 2004 Orthopaedic Research Society. Published by Elsevier Ltd. All rights reserved.
Mutation hotspots in the human porphobilinogen deaminase gene: Recurrent mutations G111R and R173Q occurring at CpG motifs
Authors: Schneider‐Yin X. , Hergersberg M. , Schuurmans M. M. , Gregor A. , Minder E. I. 
Published: September 2004

AbstractSummary: Acute intermittent porphyria (AIP) is an inherited disorder in the haem biosynthetic pathway caused by a partial deficiency of porphobilinogen (PBG) deaminase. To date, more than 200 different mutations have been identified in the PBG deaminase gene (PBGD) in AIP patients from various countries and ethnic groups. While the majority of the PBGD gene mutations, including most of the mutations occurring at CpG dinucleotides, are family‐specific, a few CpG mutations have been observed in a number of AIP patients of European origin. To study the origin of these common CpG mutations, eight intragenic single‐nucleotide polymorphisms (SNPs) in the PBGD gene, as well as eight microsatellites flanking the gene in chromosome 11 were used to construct haplotypes in six AIP families of German, Polish and Swiss origins who carried either G111R (4707G>;A) or R173Q (6391G>;A) mutations. Among the three R173Q families, three distinct haplotypes were found to be cosegregated with the mutation. One Swiss and one German G111R family shared partially an intragenic and its extended microsatellite haplotype, whereas the Polish G111R family showed a unique haplotype. These results indicated that the recurrent CpG mutations that exist in the European AIP population can be either of ancestral origins or derived from de novo events.
Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease
Authors: Schueler U. H. , Kolter T. , Kaneski C. R. , Zirzow G. C. , Sandhoff K. , Brady R. O. 
Published: September 2004

AbstractSummary: Gaucher disease, the most common sphingolipidosis, is caused by a decreased activity of glucosylceramide β‐glucosidase, resulting in the accumulation of glucosylceramide in macrophage‐derived cells known as Gaucher cells. Much of the storage material is thought to originate from the turnover of cell membranes, such as phagocytosed red and white blood cells. In this study, an in vitro model of Gaucher disease was developed by treating the murine macrophage cell line J774 with a specific inhibitor of glucosylceramide β‐glucosidase, conduritol B‐epoxide, and feeding red blood cell ghosts, in order to mimic the disease state. It was found in this model system that glucosylceramide β‐glucosidase activity could be reduced to about 11–15! of the normal control level before increased storage of glucosylceramide occurred. This in vitro system allows insight into the correlation between enzyme activity and lipid storage as predicted by the theory of residual enzyme activity that was proposed by Conzelmann and Sandhoff.
Gaucher disease: Variability in phenotype among siblings
Authors: Amato D. , Stachiw T. , Clarke J. T. R. , Rivard G. E. 
Published: September 2004

AbstractSummary: Although many mutations of the GBA gene have been described as causing Gaucher disease, there is generally poor correlation between genotype and phenotype, with a few exceptions. However, most previous reports of genotype–phenotype correlation have involved unrelated individuals, who, even if they share the same mutations, are not as genetically close as siblings. We havestudied 24 groups (mostly pairs) of Canadian siblings with type I (non‐neuronopathic) Gaucher disease. Since most Canadian provinces have adopted similar criteria for instituting enzyme replacement therapy (ERT), the age at which ERT is begun can serve as a rough surrogate for disease severity, and concordance (or lack of concordance) can be examined between siblings. In 14 of the 24 sibling families, there was sibling concordance: either both siblings were not on ERT, or both were on ERT and had begun at roughly the same age. In these families, there was also much similarity in the clinical features of the disease between siblings. In the other 10 families there was lack of sibling concordance, with only one sibling receiving ERT (or, in one family with three affected siblings, two of three on ERT). In these families, there was also much discrepancy between siblings in the clinical features (as might be expected in a setting where the guidelines for starting ERT are relatively uniform). Possible reasons for thediscordances between siblings include macro‐environmental and micro‐environmental differences. The latter may include micro‐environments at the level of the cell (e.g. lysosomal pH, alternative substrates) or at the level of the chromosome (contiguous genes, modifier genes, neutral polymorphisms in GBA).
Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutation
Authors: Hendriksz C. J. , Moss G. M. , Wraith J. E. 
Published: September 2004

AbstractSummary: We present a patient with MPS IH, homozygous for the W402X mutation. The patient was treated by bone marrow transplantation at age 14 months. The patient became pregnant at age 21 years. Because of concerns about her own health, the patient opted for a termination.
Severe lactic acidosis and acute thiamin deficiency: A report of 11 neonates with unsupplemented total parenteral nutrition
Authors: Thauvin‐Robinet C. , Faivre L. , Barbier M. L. , Chevret L. , Bourgeois J. , Netter J. C. , Grimaldi M. , Geneviève D. , Ogier de Baulny H. , Huet F. , Saudubray J. M. , Gouyon J. B. 
Published: September 2004

AbstractSummary:
Succinyl‐CoA:3‐ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation
Authors: Longo N. , Fukao T. , Singh R. , Pasquali M. , Barrios R. G. , Kondo N. , Gibson K. M. 
Published: September 2004

AbstractSummary: SCOT deficiency presents with persistent excess of ketones leading to ketoacidosis. Here we report patient GS15, homozygous for a novel R217X mutation, who had the first apparent ketoacidotic crisis at 8 months of age. Before confirmation of diagnosis, daily dialysis was the only mechanism by which to normalize her persistent metabolic acidosis of unknown aetiology.
Filter paper cards contaminated with EMLA cream produce artefacts on acylcarnitine analysis
Authors: Kuster T. , Torresani T. , Kleinert P. , Durka S. , Neuheiser F. , Heizmann C. W. , Troxler H. 
Published: September 2004

AbstractSummary: Electrospray ionization tandem mass spectrometry is a widely applied method for the analysis of acylcarnitines in blood samples spotted on filter paper cards (Guthrie cards). When the filter paper cards are contaminated by EMLA cream, highly intense signals at m/z 221 and 235 are detected under ESI‐MS/MS conditions, monitoring for precursors of m/z 85. These signals correspond to the active ingredients prilocaine and lidocaine in EMLA and overlap with the signals from the isotopically labelled internal standards (2H3)propionyl carnitine and (2H3)butyrylcarnitine. This interference prevents the proper quantification of the two short‐chain acylcarnitines when samples are analysed without derivatization.
The expanding spectrum of disorders with elevated plasma chitotriosidase activity:An update
Authors: Michelakakis H. , Dimitriou E. , Labadaridis I. 
Published: September 2004

AbstractSummary: A striking elevation of plasma chitotriosidase activity, greater than 150 times the normal median value, was found in two galactosialidosis patients. Furthermore, increased plasma chitotriosidase activity, 10–53 times the normal median value, was also observed in fucosidosis, glycogen storage disease type IV, Alagille syndrome and hydrops fetalis due to congenital herpes virus infection.
Restoration of the Orbital Aesthetic Subunit in Complex Midface Defects
Authors: Chepeha Douglas B. , Wang Steven J. , Marentette Lawrence J. , Bradford Carol R. , Boyd Charles M. , Prince Mark E. , Teknos Theodoros N. 
Published: September 2004

AbstractObjectives/Hypothesis: Although various options exist for restoration of the orbital defect in complex craniofacial resections, the aesthetic appearance and functional result of the orbit are optimized when the bony orbital architecture, orbital volume, and facial contour are specifically addressed. The study describes an approach using free tissue transfer for restoration of the native orbital aesthetic subunit.Study Design: Retrospective case series.Methods: Nineteen patients (male‐to‐female ratio, 14:5; mean age, 52 y [age range, 8–79 y]) in the study period between 1997 and 2001 had orbital defects that could be classified into one of the following categories: 1) orbital exenteration cavities only, 2) orbital exenteration cavities with resection of less than 30% of the bony orbital rim, or 3) radical orbital exenteration cavities with resection of overlying skin and bony malar eminence. Group 1 had reconstructions with fasciocutaneous forearm flaps; group 2, with osseocutaneous forearm flaps; and group 3, with osseocutaneous scapula flaps.Results: Eighteen of 19 patients achieved a closed orbital reconstruction with restoration of the orbital aesthetic subunit. Among 16 patients with more than 4 months of follow‐up, 10 patients had minimal or no resulting facial contour deformity and 8 patients engaged in social activities outside the home on a frequent basis. Five of the nine patients who were working before their surgery were able to return to work.Conclusion: Patients with complex midface defects involving the orbit can undergo free tissue transfer and have successful restoration of the native orbital aesthetic subunit without an orbital prosthesis.
Cochlear Implantation in Adults With Prelingual Deafness. Part II. Underlying Constraints That Affect Audiological Outcomes
Authors: Teoh Su Wooi , Pisoni David B. , Miyamoto Richard T. 
Published: September 2004

AbstractObjectives/Hypothesis: To discuss the underlying physiological and anatomical constraints on audiological performance of late‐implanted prelingually deafened adult cochlear implant patients.Study Design: Retrospective review.Methods: Published literature on the topic of auditory pathway responses to prolonged congenital deafness was reviewed. In particular, the authors sought to identify the anatomical and physiological changes that take place in both the peripheral and central auditory pathways in response to prolonged deafness, as well as how they are altered by chronic electrical stimulation.Results: The currently available evidence suggests that the colonization of the auditory cortex by other sensory modalities is the main limiting factor in postimplantation performance, not the pathological degenerative changes of the auditory nerve, cochlear nucleus, or auditory midbrain.Conclusion: The reviewed evidence, although circumstantial, suggests that emphasizing aurally based educational programs before (with hearing aids) and after cochlear implantation could reduce the cortical colonization phenomenon and potentially improve postimplantation audiological performance of patients with long‐term prelingual deafness.
Cine Magnetic Resonance Imaging: Evaluation of Persistent Airway Obstruction after Tonsil and Adenoidectomy in Children with Down Syndrome
Authors: Shott Sally R. , Donnelly Lane F. 
Published: September 2004

AbstractObjective/Hypothesis: Although usually successful, not all obstructive sleep apnea is cured by removal of the tonsils and adenoids (T&A). This is particularly true in children with Down syndrome and craniofacial anomalies. This is because of the multiple levels of obstruction in their airways, with obstruction present not only at the level of the tonsils and adenoids but also from base of tongue obstruction, soft palate collapse, and hypopharyngeal collapse. The cine magnetic resonance image (MRI) is useful in evaluating the upper airway in those patients who have not achieved a normal polysomnogram after T&A surgery.Study Design: Prospective case series.Methods: Fifteen children with Down syndrome who had previously undergone a T&A but continued to have abnormal postoperative polysomnograms underwent a cine MRI with fast gradient cine MRI images.Results: The cine MRI identified different areas and levels of obstruction that ultimately affected the children's treatment courses. Recurrent adenoid tissue, glossoptosis, soft palate collapse, hypopharyngeal collapse, and enlarged lingual tonsils were identified. The results as well as several illustrative cases are presented.Conclusion: Cine MRI evaluates upper airway obstruction in children who may have multiple sources of obstruction causing their obstructive sleep apnea. This is particularly helpful in children with Down syndrome and craniofacial anomalies. This technology is useful in all children with complex upper airway obstruction.
Laryngeal Amyloidosis in 10 Patients
Authors: Dedo Herbert H. , Izdebski Krzysztof 
Published: September 2004

AbstractObjectives: Review the location, symptoms, treatment, and outcomes in 10 consecutive laryngeal amyloid (LA) patients.Study Design: Pre and retrospective evaluation after treatment.Methods: Analysis of visual and phonatory pathology and detailed description of surgery.Results: Amyloid on the undersurface of both true vocal cords (TVCs) was found in two cases, uni‐ or bilaterally submucosally in the false vocal cords (FVCs) in eight cases, extending down into the lateral TVC in four cases, or on the undersurface of the TVCs as well in one case. The chief complaint was hoarseness and not shortness of breath. The amyloid was resected with a CO2 laser by way of microdirect laryngoscopy (MDL) on one side at a time to try to prevent anterior commissure scarring. Removal of most of the FVC improved the voice, but removal of the whole FVC to the inner thyroid perichondrium was found to be necessary to avoid recurrence from supraglottic deposits. Removal of at least 2 mm of the upper edge of a 3 to 4 mm thick submucosal deposit to the thyroarytenoid (TA) muscle along with the overlying mucosa on at least one side was necessary to improve hoarseness when amyloid was present on the undersurface of both TVCs. Partial regrowth occurred in a few months to years after partial removal. Seven patients had had one to seven prior removals. Any hard amyloid in the lateral TVC (floor of ventricle) as an inferior extension from FVC amyloid needed to be at least partially removed to avoid hoarseness from a convex vocal cord. The voice improved postoperatively in all patients. Follow‐up after the first operation was 6 months to 16 years, with an average of 6.5 years. Four FVC patients required re‐excision on the same side after the first operation, but none has required a third removal as of yet.
Pediatric Hemophilic Pseudotumor of the Paranasal Sinus
Authors: Steele Natalie P. , Myssiorek David , Zahtz Gerald D. , Diamond Alan 
Published: September 2004

AbstractObjectives/Hypothesis: Hemophilic pseudotumors are rare clinical entities in otolaryngology. An unusual case of a pediatric hemophilic pseudotumor of the paranasal sinus in a previously undiagnosed hemophiliac is presented.Study Design: Case report.Methods: A 6‐month‐old, otherwise healthy boy was admitted for evaluation of a rapidly expanding left‐sided cheek mass. The patient's initial presentation, imaging workup, and intraoperative and postoperative courses are discussed.Results: Imaging workup revealed a large, heterogeneous, dense lesion in the patient's left‐side maxillary sinus with distortion of the orbital floor and hard palate. Because of the concern for an aggressive malignancy, a biopsy was performed. After a Caldwell‐Luc approach, a large amount of greenish fluid leaked from an otherwise empty maxillary sinus. The patient continued to bleed from his intraoral incision postoperatively and required two packed erythrocyte transfusions. Subsequent hematological testing led to a diagnosis of severe hemophilia type A with factor VIII levels less than 1% of normal. After treatment with recombinant coagulation factors hemostasis was achieved, and the patient clinically improved.Conclusion: The study presents the first report of a pediatric hemophilic pseudotumor in the paranasal sinuses leading to a diagnosis of hemophilia. It is a rare entity characterized by a cycle of repeated hemorrhage with subsequent encapsulation of the coagulum leading to pressure‐induced distortion of adjacent bone. In the correct clinical setting, hemophilic pseudotumor should be considered in the differential diagnosis of a rapidly expanding mass in children.