bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cutaneous ulcers: An unusual manifestation of inherited thrombophilia
Authors: Mavragani Clio P. , Pikazis Dimitris , Aroni Kyriaki , Paikos Spiros , Voulgarelis Michalis 
Published: May 2004

AbstractWe report two cases with cutaneous lesions found to be associated with factor V Leiden mutation and low S protein levels. At the time of presentation, no other symptoms were reported. Histopathology of both lesions revealed the presence of widespread intravascular thrombi. The therapeutic response to oral anticoagulants in the first case was dramatic, leading to complete healing of the lesions. Inherited causes of thrombophilia manifested as cutaneous lesions, although rare, should be considered in the differential diagnosis of occlusive vasculopathy. Am J Hematol 76:139–142, 2004. © 2004 Wiley‐Liss, Inc.
Trends in occupational lead exposure since the 1978 OSHA lead standard
Authors: Okun Andrea , Cooper Gregory , Bailer A. John , Bena James , Stayner Leslie 
Published: May 2004

AbstractBackgroundThe purpose of the study was to evaluate trends in occupational lead exposures throughout U.S. industry after the establishment of the general industry lead standard in 1978 and the construction industry standard in 1993.MethodsLead exposure measurements collected by the Occupational Safety and Health Administration (OSHA) under their compliance and consultation programs were analyzed. Time trends in the distributions of exposure levels were evaluated graphically. Trends in the proportion of exposures above the OSHA permissible exposure limit (PEL) were analyzed using logistic regression models.ResultsThe distribution of lead exposure levels declined over the study time period for general industry, but not for construction. The median exposure levels for general industry facilities decreased five‐ to tenfold. Logistic regression models reveal statistically significant declines in the odds of a lead exposure exceeding the PEL.ConclusionsThis study provides evidence for relatively large decreases in lead exposure levels in general industry facilities over time. The study does not provide similar evidence for the construction industry. Given the limited number of years of data available since the implementation of the revised construction standard for lead, re‐analysis of lead exposure levels within this industry would be worthwhile when more data become available. Am. J. Ind. Med. 45:558–572, 2004. Published 2004 Wiley‐Liss, Inc.
Neglecting safety precautions may lead to trenching fatalities
Authors: Deatherage J. Harold , Furches Lisa K. , Radcliffe Mike , Schriver William R. , Wagner John P. 
Published: May 2004

AbstractBackgroundTrench collapses ranked as the seventh leading cause of the possible twenty‐nine causes of OSHA‐inspected fatal construction events during the period 1991–2001. This study aims to examine why these fatalities occurred.MethodsForty‐four case files from OSHA inspections of fatal trench collapses were reviewed.ResultsImproper protection of the excavation site where work was taking place was the leading fatality cause. Several organizational or physical conditions were present at many fatal sites; the most frequent was that no training had been provided for trenching.ConclusionsPresence of a competent, diligent person at the site would have prohibited most fatalities. The top cited violation was lack of protection, that is, benching, shoring, sloping, trench boxes, etc. (29 CFR 1926.652 (a) (1)). Am. J. Ind. Med. 45:522–527, 2004. © 2004 Wiley‐Liss, Inc.
The doctors and the dockers
Authors: Greenberg Morris 
Published: May 2004

AbstractBackgroundLondon Dockers unloading a dusty asbestos cargo in 1965, consulted an eminent Occupational Health physician, Dr. Donald Hunter who informed them that they had been at serious risk. A second, opinion provided jointly by a Consultant Chest Physician, the Port Medical Officer, and the Medical Advisor to the Trades Union Congress, declared that they knew of no disease affecting dockers, and stated that intermittent exposure to asbestos constituted an inconsiderable risk that with certain precautions would be eradicated.MethodsArchival material have been obtained to supplement limited published material and eyewitness accounts of the event, to provide a clearer picture of the issues.ResultsReassured by the Chest Physician, the Port Medical Officer, and the Medical Advisor to the Trades Union Congress that they had little to fear, London dockers resumed unloading asbestos. From time to time dockers at other ports were to express concern and interrupt work, only to be similarly reassured.ConclusionsHad the medical troika in 1965 considered the available health statistics, they would have had reason to take a less sanguine attitude to the cancer mortality of dockers. An analysis of data for 16 selected occupations for the years 1900–1902, showed dockers to have an unhealthy job, with deaths from ‘All Cancers’ of 1.09 per 1,000 years of life (the fourth highest). The Registrar General's occupational mortality report for 1951, noted excess tumors of the lung and stomach for dockers. Elevated Standardized Mortality Ratios for lung cancer had consistently been calculated by the Registrar General for the 20–64 age group of dockers; in 1931 (183), 1951 (149), and 1961 (169): by 1971 it would be 182. A total of 266 dockers were to be registered in the UK by 1999 as having died of malignant mesotheliomas, proving that Donald Hunter's concern for dockers had not been excessive. Am. J. Ind. Med. 45:573–581, 2004. © 2004 Wiley‐Liss, Inc.
Occupational exposure to diesel and gasoline engine exhausts and risk of lung cancer among Finnish workers
Authors: Guo Johannes , Kauppinen Timo , Kyyrönen Pentti , Lindbohm Marja‐Liisa , Heikkilä Pirjo , Pukkala Eero 
Published: May 2004

AbstractBackgroundStudies on engine exhausts and lung cancer have given inconsistent results.MethodsEconomically active Finns were followed‐up for lung cancer during 1971–95 (33,664 cases). Their Census occupations in 1970 were converted to exposures to diesel and gasoline engine exhausts with a job–exposure matrix. The relative risks (RRs) for cumulative exposure (CE) were defined by Poisson regression, adjusted for smoking, asbestos, and quartz dust exposure, and socioeconomic status.ResultsRR for engine exhausts among men did not increase with increasing CE. In women, RR for gasoline engine exhaust was 1.58 (95% CI 1.10–2.26) in the CE‐category of 1–99 mg/m3‐y and 1.66 (1.11–2.50) among those with ≥100 mg/m3‐y (lag 20 years). With a lag of 10 years RR for the middle/highest diesel exhaust category in women was 1.42 (0.94–2.13).ConclusionsOccupational exposure to engine exhausts was not consistently associated with lung cancer in this study, possibly due to low exposure levels. Am. J. Ind. Med. 45:483–490, 2004. © 2004 Wiley‐Liss, Inc.
Surveillance of hazardous materials events in 17 states, 1993–2001: A report from the Hazardous Substances Emergency Events Surveillance (HSEES) System
Authors: Horton D. Kevin , Berkowitz Zahava , Kaye Wendy E. 
Published: May 2004

AbstractBackgroundThousands of acute hazardous materials (HazMat) releases occur annually throughout the United States. To prevent human exposure and resulting injuries, it is critical to understand the frequency with which these releases occur, the locations involved, the industries associated, and the specific substances being released.MethodsHazMat events data from the Agency for Toxic Substances and Disease Registry's Hazardous Substances Emergency Events Surveillance (HSEES) system were analyzed for frequency and locations of occurrence, major industry categories and sub‐categories involved, and substances released. The data analyzed were collected from 17 participating state health departments for 1993 through 2001.ResultsDuring 1993 through 2001, 53,142 HazMat events occurred. Of the 17 states analyzed, Texas had the most releases, comprising 38.3% of all HSEES events. Of the 14 major US Census industry categories analyzed, the manufacturing category had the highest percentage of events (48.7%) followed by transportation, communication, and other public utilities (27.5%). Of the 10 states that participated during the entire analysis period, the numbers of events increased 64.3%. Twelve of 14 major industrial categories experienced increases in numbers of events over the analysis period, while public administration and active duty military events decreased. The substances released most frequently overall included ammonia, sulfur dioxide, and sulfuric acid, respectively.ConclusionsThe HSEES data appear to reflect an upward trend in the occurrence of hazardous HazMat events. While it is difficult to definitively conclude whether this trend is due to more events actually occurring or from other factors, reviewing historical HazMat data may help communities, government agencies, and industries prevent or better prepare for potential events in the future. Am. J. Ind. Med. 45:539–548, 2004. Published 2004 Wiley‐Liss, Inc.
A disease and non‐battle injury model based on Persian Gulf War admission rates
Authors: Wojcik Barbara E. , Hassell L. Harrison , Humphrey Rebecca J. , Davis James M. , Oakley Carolyn J. , Stein Catherine R. 
Published: May 2004

AbstractBackgroundMilitary planners must ensure adequate medical care for deployed troops—including care for disease and non‐battle injuries (DNBI). This study develops a heuristic model with the three distinct phases of a warfighting operation (build‐up, ground combat, post‐combat) to assist in predicting DNBI incidence during warfighting deployments.MethodsInpatient healthcare records of soldiers deployed to the Persian Gulf War who were admitted with DNBI diagnoses were analyzed. DNBI admission rates for the three phases of the operation were examined and compared to rates for US Army Forces Command (FORSCOM) posts in the US.ResultsDNBI admission rates among the phases were distinctly different. The operation's overall rate and 95th percentile daily rate were less than the FORSCOM FY 1990 annual rate.ConclusionsThe level of combat must be considered. The traditional use of average or overall rates should be abandoned when forecasting DNBI rates. Medical support projections should use separate 95th percentile DNBI admission rates for each of the phases. Am. J. Ind. Med. 45:549–557, 2004. Published 2004 Wiley‐Liss, Inc.
Kantaputra mesomelic dysplasia: A second reported family
Authors: Shears Deborah J. , Offiah Amaka , Rutland Paul , Sirimanna Tony , Bitner‐Glindzicz Maria , Hall Christine 
Published: May 2004

AbstractWe present the clinical and radiographic findings in a mother and son with a dominantly inherited mesomelic skeletal dysplasia almost identical to that described in a large Thai family by Kantaputra et al., in which ankle, carpal and tarsal synostoses were noted. The proband in the family is a 48‐year‐old woman with mesomelic limb shortening, most pronounced in the upper limbs. Her parents were of normal stature and build. Her 15‐year‐old son has similar mesomelic limb shortening, and in addition talipes equinovarus. Radiological examination showed severe shortening of the radius and ulna with bowing of the radius and dislocation of the radial head. Multiple carpal and tarsal synostoses were present and in addition, the talus and calcaneum were fused. In the original Thai family, linkage to chromosome 2q24‐q32, which contains the HOXD cluster has been reported, and it is postulated that the phenotype may result from a disturbance of regulation of the HOXD cluster. Although linkage analysis was not possible in our family, molecular analysis was undertaken and HOXD11 was sequenced, however, no mutations were detected. This is only the second reported family affected with Kantaputra mesomelic dysplasia (MIM 156232), a distinct mesomelic skeletal dysplasia. © 2004 Wiley‐Liss, Inc.
MICRO syndrome: An entity distinct from COFS syndrome
Authors: Graham John M. , Hennekam Raoul , Dobyns William B. , Roeder Elizabeth , Busch David 
Published: May 2004

AbstractChildren born with the findings of microcephaly, cataracts and microcornea can result not only from a prenatal viral infection, but also from an autosomal recessive Mendelian disorders. We present three pairs of affected siblings with MICRO syndrome, who were born with congenital microcephaly, microcornea, and cataracts. MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, severe mental retardation, hypotonic diplegia, and hypogenitalism. At birth, MICRO syndrome resembles Cerebro‐Oculo‐Facio‐Skeletal (COFS) syndrome, but it differs in the lack of the rapidly progressive neurologic features leading to severe brain atrophy with calcifications. Patients with MICRO syndrome manifest frontal cortical dysplasia, hypoplasia of the corpus callosum, cortical blindness with optic atrophy, profound mental retardation, and progressive joint contractures with growth failure. COFS syndrome shares also many clinical and cellular similarities with Cockayne syndrome (CS), and cultured cells in both conditions demonstrate hypersensitivity to ultraviolet (UV) radiation due to impaired nucleotide excision repair (NER). NER studies in cultured fibroblasts from MICRO patients give normal results, so MICRO syndrome should be considered in children with features resembling COFS syndrome and CS, but who have normal NER. MICRO should be distinguished from other similar clinical disorders with normal NER by the presence of significant visual impairment and cortical blindness despite early surgery for congenital cataracts, frontal polymicrogyria, thin corpus callosum, and cortical atrophy by MRI. © 2004 Wiley‐Liss, Inc.
Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial
Authors: Marteau Theresa , Senior Victoria , Humphries Steve E. , Bobrow Martin , Cranston Treena , Crook Martin A. , Day Lorna , Fernandez Maryam , Horne Rob , Iversen Andrew , Jackson Zoe , Lynas Jacqui , Middleton‐Price Helen , Savine Richard , Sikorski Jim , Watson Melanie , Weinman John , Wierzbicki Anthony S. , Wray Richard 
Published: May 2004

AbstractThis trial tests the hypothesis that confirming a clinical diagnosis of familial hypercholesterolemia (FH) by finding a genetic mutation reduces patients' perceptions of control over the disease and adherence to risk‐reducing behaviors. Three hundred forty‐one families, comprising 341 hypercholesterolemia probands and 128 adult relatives, were randomized to one of two groups: (a) routine clinical diagnosis; (b) routine clinical diagnosis plus genetic testing (mutation searching in probands and direct gene testing in relatives). The main outcome measures were perceptions of control over hypercholesterolemia, adherence to cholesterol‐lowering medication, diet, physical activity, and smoking. There was no support for the main hypothesis: finding a mutation had no impact on perceived control or adherence to risk‐reducing behavior (allP‐values > 0.10). While all groups believed that lowering cholesterol was an effective way of reducing the risk of a heart attack, participants in whom a mutation was found believed less strongly in the efficacy of diet in reducing their cholesterol level (P = 0.02 at 6 months) and showed a trend in believing more strongly in the efficacy of cholesterol‐lowering medication (P = 0.06 at 6 months). In conclusion, finding a mutation to confirm a clinical diagnosis of FH in a previously aware population does not reduce perceptions of control or adherence to risk‐reducing behaviors. The pattern of findings leads to the new hypothesis that genetic testing does not affect the extent to which people feel they have control over a condition, but does affect their perceptions of how control is most effectively achieved. Further work is needed to determine whether similar results will be obtained in populations with little previous awareness of their risks. © 2004 Wiley‐Liss, Inc.
Infantile systemic hyalinosis: A clinicopathological study
Authors: Criado Germán Rodríguez , González‐Meneses Antonio , Cañadas Manuela , Rafel Enrique , Yanes Francisco , de Terreros Ignacio Gómez 
Published: May 2004

AbstractInfantile systemic hyalinosis (ISH) is a presumed autosomal recessive connective tissue condition. Symptoms usually begin at birth or shortly thereafter, and are characterized by pain when handled, painful and swollen joints and, later on, dermal anomalies, diarrhea, failure to thrive and recurrent infections, which usually lead to death around the age of 2. The skin has generally diminished elasticity with small pearly papules appearing on neck, ears, coccygeal region, and face. We present two unrelated patients with ISH, with specific focus on clinical and pathologic studies. In the first patient the diagnosis was made several years after she died, in a retrospective study of her clinical file. On ultrastructural examination both patients showed an accumulation of fibrillogranular material in the extracellular matrix with long‐spacing collagen of 90 nm. The first child died at the age of 1½ years and the second at 3 years. © 2004 Wiley‐Liss, Inc.
Novel mutations associated with metachromatic leukodystrophy: Phenotype and expression studies in nine Czech and Slovak patients
Authors: Berná Linda , Gieselmann Volkmar , Poupětová Helena , Hřebíček Martin , Elleder Milan , Ledvinová Jana 
Published: May 2004

AbstractMetachromatic leukodystrophy (MLD) is an inherited demyelinating disorder caused by the deficiency of arylsulphatase A (ASA). This defect leads to an accumulation of galactosylceramide I3‐sulphates (sulphatides) in lysosomes of different tissues. We report on mutations found in a group of nine patients from the Czech and Slovak Republics (former Czechoslovakia). Their diagnosis was confirmed by determination of the activity of arylsulphatase A in leukocytes and by abnormal urinary excretion of sulphatides. All alleles of the patients were identified and eight different mutations were found. They include four novel missense mutations in one infantile (D29N), one juvenile (C294Y), and three adult (C156R, G293S) patients. Four mutations were previously described sequence alterations (459 + 1G > A, G309S, I179S, and P426L). Polymorphisms characteristic for the ASA pseudodeficiency allele were not found in the patients. Substitutions of D29N, C294Y, and G293S in arylsulphatase A caused a severe reduction of enzyme activity in transient expression studies. In contrast, the C156R substitution reduces arylsulphatase A only to 50% of wild type ASA activity. Since no other mutations were found in this patient, the contribution of this mutation to the development of disease remains unclear. © 2004 Wiley‐Liss, Inc.
Mitochondrial DNA polymorphisms and extraversion
Authors: Kato Chieko , Umekage Tadashi , Tochigi Mamoru , Otowa Takeshi , Hibino Hiroyuki , Ohtani Toshiyuki , Kohda Kazuhisa , Kato Nobumasa , Sasaki Tsukasa 
Published: May 2004

AbstractMitochondria is the major site of energy production in cells, therefore, mitochondrial abnormality may affect functions of organs including the brain, which constantly requires high levels of energy consumption. Previous studies have suggested a role of mitochondria and their DNA polymorphisms in neuro‐psychiatric disorders, including Alzheimer's disease, Parkinson's disease, schizophrenia and bipolar mood disorder. Thus, we hypothesized that mitochondrial DNA polymorphisms might be related with the development of personality. The present study investigated a role of two mitochondrial DNA polymorphisms, the C5178A and A10398G, in personality traits evaluated using the NEO PI‐R scores in 238 healthy Japanese volunteers. Subjects with the 5178A genotype showed significantly higher extraversion score than those with the 5178C genotype (P = 0.027), while no significant association was observed between the C5178A polymorphism and other scores. No significant association was found between the A10398G polymorphism and any scores. Regarding the 5178–10398 haplotype, the score of extraversion, not other scores, was significantly associated with the A–G haplotype (P = 0.042). Although further studies are recommended for the confirmation, the result may suggest a role of the mitochondrial DNA polymorphism in the personality trait. © 2004 Wiley‐Liss, Inc.
MECP2 structural and 3′‐UTR variants in schizophrenia, autism and other psychiatric diseases: A possible association with autism
Authors: Shibayama Akane , Cook Edwin H. , Feng Jinong , Glanzmann Cecile , Yan Jin , Craddock Nick , Jones Ian R. , Goldman David , Heston Leonard L. , Sommer Steve S. 
Published: May 2004

AbstractMutations in the gene coding for methyl‐CpG‐binding protein 2 (MECP2) cause Rett syndrome (RTT) and have also been reported in a number of X‐linked mental retardation syndromes. Furthermore, putative mutations recently have been described in a few autistic patients and a boy with language disorder and schizophrenia. In this study, DNA samples from individuals with schizophrenia and other psychiatric diseases were scanned in order to explore whether the phenotypic spectrum of mutations in the MECP2 gene can extend beyond the traditional diagnoses of RTT in females and severe neonatal encephalopathy in males. The coding regions, adjacent splicing junctions, and highly conserved segments of the 3′‐untranslated region (3′‐UTR) were examined in 214 patients, including 106 with schizophrenia, 24 with autism, and 84 patients with other psychiatric diseases by detection of virtually all mutations‐single strand conformation polymorphism (SSCP) (DOVAM‐S). To our knowledge, this is the first analysis of variants in conserved regions of the 3′‐UTR of this gene. A total of 5.2 kb per haploid gene was analyzed (1.5 Mb for 214 patients). A higher frequency of missense and 3′‐UTR variants was found in autism. One missense and two 3′‐UTR variants were found in 24 patients with autism versus one patient with a missense change in 144 ethnically similar individuals without autism (P = 0.009). These mutations suggest that a possible association between MECP2 mutations and autism may warrant further study. © 2004 Wiley‐Liss, Inc.
Association analysis of the DRD4 and COMT genes in methamphetamine abuse
Authors: Li Tao , Chen Chi‐ken , Hu Xun , Ball David , Lin Shih‐Ku , Chen Wai , Sham Pak C. , Loh El‐Wui , Murray Robin M. , Collier David A. 
Published: May 2004

AbstractWe analyzed two polymorphisms in genes encoding proteins of the dopamine system, the Val158Met polymorphism in the catechol‐O‐methyltransferase gene and the 120‐bp VNTR polymorphism in the promoter of the dopamine D4 receptor gene for association with methamphetamine abuse. We used a case/control design with 416 methamphetamine abusing subjects and 435 normal controls. All subjects were Han Chinese from Taiwan. We found an excess of the high activity Val158 allele in the methamphetamine abuser group, consistent with several previous reports of association of this allele with drug abuse. The 120‐bp VNTR polymorphism in the promoter of the dopamine D4 receptor gene itself did not show significant association with methamphetamine abuse. However, analysis of the 120‐bp VNTR polymorphism and the exon 3 VNTR in the dopamine D4 receptor as a haplotype showed significant association with methamphetamine abuse, which gave an empirical P value 0.0034 for a heterogeneity model. Moreover, there were significant interactive effects between polymorphisms in the catechol‐O‐methyltransferase and dopamine D4 genes. The evidence of interaction between COMT 158 Val/Met and DRD4 48‐bp VNTR polymorphisms (P = 0.0003, OR = 1.45, 95% CI: 1.148–1.77), and between COMT 158 Val/Met and DRD4 120 bp promoter polymorphisms (P = 0.01, OR = 1.10, 95% CI: 1.10–1.18) were significant but the latter was weak. We conclude that genetic variation in the dopamine system may encode an additive effect on risk of becoming a methamphetamine abuser. © 2004 Wiley‐Liss, Inc.