bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Genetic Counseling Workplace—An Australasian Perspective. A National Study of Workplace Issues for Genetic Counselors and Associate Genetic Counselors
Authors: James Carolyn , Worthington Sharron , Colley Alison 
Published: October 2003

AbstractGenetic counseling in Australasia (Australia and New Zealand) has been recognized as a profession since the 1980s and has steadily expanded over the past 20 years. The demography of major cities with metropolitan sprawl and sparsely populated rural areas has led to the establishment of 3 types of genetics units: main units in cities, metropolitan outreach, and rural outreach units. A questionnaire was developed to obtain information about the needs, resources, and day‐to‐day operation of the genetic counselors. The questionnaire addressed the areas of resource availability, professional development, responsibility of genetic counselors in the clinical setting, and their involvement in promotion of the service and public education. Differences observed between the 3 settings in all of these areas included large clinical loads for metropolitan outreach counselors, varying responsibilities in the clinical setting, and a lack of support and resources for rural outreach counselors. Australasian Genetic counselors were found to have a significant interest in developing mechanisms for supervision and were keenly interested in maintaining credentials and professional role development. The results of this study allows genetic counselors themselves to have a better understanding of the roles of their colleagues in the different units; they can also be used by service providers in establishing and supporting genetic counselors, and identifying inequalities and deficiencies in the different practice areas.
Reversible posterior leukoencephalopathy syndrome in a child with cerebral X‐linked adrenoleukodystrophy treated with cyclosporine after bone marrow transplantation
Authors: Chan A. K. J. , Bhargava R. , Desai S. , Joffe A. 
Published: October 2003

AbstractReversible posterior leukoencephalopathy syndrome (RPLS) was described by Hinchey and colleagues in 1996. The disorder occurs predominantly in patients with acute hypertension and/or on pharmacological immunosuppression. We report a 6‐year‐old male with cerebral X‐linked adrenoleukodystrophy who received an HLA‐matched unrelated bone marrow transplant (BMT). Cyclosporine was used as graft‐versus‐host disease prophylaxis. At 55 days post‐BMT, his cyclosporine concentrations were high for several days and the concentration was still high on day 70 (353 µg/L). He presented 83 days post‐BMT with new onset of headache, lethargy, acute visual loss and focal seizures. He was not hypertensive. MRI of the head revealed signal changes that now extended more peripherally into the subcortical and cortical regions of the occipital and temporal lobes. The patient's cyclosporine was stopped for 5 days. The patient's vision returned to normal and his headaches and lethargy resolved with no further seizures 3 weeks later. Follow‐up MRI of the head 2 months later showed almost complete resolution of the cortical signal abnormalities. It is important to consider RPLS in patients with cerebral adrenoleukodystrophy who present with acute neurological deterioration. Attention to the pattern of white matter and the presence of cortical grey matter involvement on neuroimaging is important for the diagnosis. When appropriate management is initiated, that is controlling hypertension when present and discontinuing or reducing the dose of offending immunosuppressive agents, the acute neurological symptoms will usually resolve.
Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2
Authors: Spiekerkoetter U. , Huener G. , Baykal T. , Demirkol M. , Duran M. , Wanders R. , Nezu J. , Mayatepek E. 
Published: October 2003

AbstractA family of Turkish origin with primary systemic carnitine deficiency in the father and his two sons is described. In all three individuals, the same homozygous mutation in the OCTN2 gene (R471H) was present and carnitine uptake in fibroblasts was deficient. Whereas one boy became symptomatic with a Reye‐syndrome‐like picture of hepatopathy and encephalopathy in infancy, the other affected family members remained asymptomatic up to their current ages of 28 and 5 years, respectively.
Acute respiratory distress syndrome in long‐chain 3‐hydroxyacyl‐CoA dehydrogenase and mitochondrial trifunctional protein deficiencies
Authors: Lundy C. T. , Shield J. P. H. , Kvittingen E. A. , Vinorum O. J. , Trimble E. R. , Morris A. A. M. 
Published: October 2003

AbstractInborn errors of metabolism have not previously been recognized as a risk factor for acute respiratory distress syndrome (ARDS). We report this complication in four patients with defects of the mitochondrial trifunctional protein (MTP). This enzyme catalyses three steps in the β‐oxidation of long‐chain fatty acids. Three of the patients were homozygous for the ‘common’ 1528G>C mutation in the α‐subunit of the MTP, giving rise to long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency. The fourth patient did not carry this mutation but had severely decreased activities of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase and long‐chain 3‐ketoacyl‐CoA thiolase. One patient died and histology in this patient showed severe interstitial pulmonary fibrosis. The other three patients recovered after being ventilated for up to 6 months. The high frequency of ARDS in patients with MTP defects suggests that this inborn error may be a risk factor for ARDS.
Effect of smoking on gingival crevicular fluid cytokine profile during experimental gingivitis
Authors: Giannopoulou Catherine , Cappuyns Isabelle , Mombelli Andrea 
Published: October 2003

AbstractBackground: Cigarette smoking is a significant risk factor in the pathogenesis of periodontal disease, able to influence both the subgingival microbiota and host responses.Aim: The aim of the present study was to determine the influence of smoking on the amount of IL‐1β, IL‐4 and IL‐8 in gingival crevicular fluid (GCF) during experimental gingivitis in humans.Material and Methods: Twenty‐two healthy subjects, 10 smokers and 12 non‐smokers, participated in the study. After professional cleaning, they performed optimal hygiene to reach perfect clinical gingival health. Oral hygiene measures were ceased for a period of 10 days. Clinical indices, including plaque index (PI), gingival index (GI), probing pocket depth (PPD) and bleeding on probing (BOP), were assessed 2 days before (day –2), at the beginning (day 0) and at the end of the experimental gingivitis period (day 10). At the same time, GCF was collected from 12 sites in each patient, by means of durapore filter membranes. Total amounts of IL‐1β, IL‐4 and IL‐8 were determined by enzyme‐linked immunoadsorbent assay.Results: Clinical data revealed that both smokers and non‐smokers showed an increase in PI, GI and BOP scores during the experiment. Although no differences were noted with regard to PI at day 10, the GI and BOP were significantly less pronounced in smokers than non‐smokers (p<0.005). Non‐smokers showed higher total amounts of IL‐4 but lower amounts of IL‐8 than smokers, throughout the experiment. Total amounts of IL‐1β and IL‐8 increased significantly during plaque accumulation in both groups. IL‐4 remained stable for the smoker group and decreased for the non‐smoker group.Conclusions: The present results indicate that smoking interferes with cytokine production. When performing studies regarding the pathogenesis of periodontitis, the smoking status of the participants needs to be taken into consideration.
Molecular, ecological and evolutionary approaches to understanding Alternaria diseases of citrus
Authors: Akimitsu Kazuya , Peever Tobin L. , Timmer L. W. 
Published: October 2003

SUMMARY Alternaria fungi cause four different diseases of citrus: Alternaria brown spot of tangerines, Alternaria leaf spot of rough lemon, Alternaria black rot of several citrus fruits and Mancha foliar of Mexican lime. The first three diseases are caused by the small‐spored species, Alternaria alternata and the causal agents can only be differentiated using pathogenicity tests, toxin assays or genetic markers. Mancha foliar is caused by the morphologically distinct, large‐spored species A. limicola. Substantial progress has been made in understanding the biology, ecology, population biology, systematics, molecular biology and biochemistry of the interactions between these pathogens and citrus. Epidemiological studies have focused on brown spot of tangerines and their hybrids and have contributed to the development of a model of disease development which has improved control and reduced fungicide use. Studies of the population genetics, host specificity and ecology of A. alternata from different ecological niches on citrus have revealed host specific forms of the pathogen which cause disease on different citrus species, the existence of three phylogenetic lineages of the fungus which cause brown spot world‐wide, and closely related non‐pathogenic isolates which colonize healthy citrus tissue. The role of host‐specific toxins in Alternaria diseases of citrus has been extensively studied for over 20 years, and these pathosystems have become model systems for host‐pathogen interactions. Recent molecular research has started to unravel the genetic basis of toxin production and the host susceptibility to toxin, and the role of extracellular, degradative enzymes in disease.
Deciphering host resistance and pathogen virulence: the Arabidopsis/Pseudomonas interaction as a model
Authors: Quirino Betania F. , Bent Andrew F. 
Published: October 2003

SUMMARYThe last decade has witnessed steady progress in deciphering the molecular basis of plant disease resistance and pathogen virulence. Although contributions have been made using many different plant and pathogen species, studies of the interactions between Arabidopsis thaliana and Pseudomonas syringae have yielded a particularly significant body of information. The present review focuses on recent findings regarding R gene products and the guard hypothesis, RAR1/SGT1 and other examples where protein processing activity is implicated in disease resistance or susceptibility, the use of microarray expression profiling to generate information and experimental leads, and important molecular‐ and genome‐level discoveries regarding P. syringae effectors that mediate bacterial virulence. The development of the Arabidopsis–Pseudomonas model system is also reviewed briefly, and we close with a discussion of characteristics to consider when selecting other pathosystems as experimentally tractable models for future research.
Assessing structural and functional ecosystem condition using leaf breakdown: studies on a polluted river
Authors: Pascoal Cláudia , Pinho Manuela , Cássio Fernanda , Gomes Pedro 
Published: October 2003

Summary1. Leaf breakdown rates of Alnus glutinosa were determined and the structure of decomposer assemblages associated with leaves were analysed to assess the effect of pollution on the ecological condition of the Ave River (North‐west Portugal).2. Increase in organic and inorganic nutrients was associated with an increase in density and a decrease in richness of macroinvertebrates, a dramatic decline in the conidial production of aquatic hyphomycetes, but no major change in the richness of aquatic hyphomycetes.3. Downstream nutrient enrichment was correlated with accelerated leaf breakdown rates.4. The degree of functional impairment assessed by the ratio of leaf breakdown rates in coarse‐mesh and fine‐mesh bags was in accordance with the gradient of pollution defined by two biotic indices.5. This study supports the contention that leaf breakdown experiments are a valuable tool to assess the effect of pollution on the ecological condition of rivers.
Scaling up: the next challenge in environmental microbiology
Authors: Paerl Hans W. , Steppe Timothy F. 
Published: October 2003

SummaryGreat strides have recently been made in identifying and characterizing the staggering diversity of microorganisms conducting primary and secondary production, nutrient transformation and mineralization processes that underlie ecosystem and regional biogeochemical, trophodynamic and ecological change. We are now faced with the challenge of assigning and coupling function to structure in highly complex and interactive microbial communities mediating such change. Previous and ongoing ecophysiological work has shown that microbial processes controlled by environmental variables and limiting resources are highly specific in terms of what, when, where and why they are active, not to mention how they impact ecosystem dynamics. As such, it is imperative that we assess the activities and roles of key microbial ‘players’ along the appropriate environmental scales and gradients catalysing ecological change. Here, we discuss conceptual and technical challenges for some key microbially mediated environmental processes, problems and extremes that require synthesizing our growing knowledge of microbial community structure with emerging knowledge of function in aquatic ecosystems. We emphasize the importance of assessing ecological change over a range of relevant time scales that vary from minutes to millennia and spatial scales that range from microscale aggregates to ocean basins.
Patterns of interspecific associations of stem gallers on willows
Authors: Kopelke Jens‐Peter , Amendt Jens , Schönrogge Karsten 
Published: October 2003

Abstract. The pattern of interspecific associations of three stem‐galling sawfly species (Euura atra,E. elaeagnos,E. purpureae) and three stem‐galling gallmidge species (Rabdophagasp. 3–5) was investigated on five willow taxa (Salix alba,S. fragilis,S. × rubens,S. elaeagnos,S. purpurea) at five natural sites in Central Europe. The willow species harboured specific species associations of two stem gallers, each pair consisting of oneEuuraand oneRabdophagaspecies. The stem gallers were patchily distributed and their densities varied significantly among willow host plant species, host plant individuals, and host plant sexes. Four of the six species showed a significant increase in galling rate with shoot length. The other two species were the sawfly and cecidomyiid pair that induce galls onS. purpurea. The preference of stem gallers to longer shoots was generally not related to higher larval performance in terms of survival. Only one species,Rabdophagasp. 5, was found to be more abundant on male plants. The correlation of densities of the species pairs of stem gallers was independent of willow sexes. Species pairs of stem gallers co‐occurring on the same willow species tended to attack different shoots within the same host plant individual. When species pairs co‐occurred on shoots they were usually found in similar densities as when occurring alone on shoots. The stem‐galling sawflies usually formed galls at the basal part of a shoot, whereas the gallmidgeR. sp. 5 (R. sp. 3 andR. sp. 4 showed no clear tendency) preferred the middle or distal part of a shoot. This is interpreted with differences of their phenology and oviposition period.
Body Mass Index and Hospitalization in the Elderly
Authors: Luchsinger José A. , Lee Wei‐nch , Carrasquillo Olveen , Rabinowitz Daniel , Shea Steven 
Published: October 2003

Objectives: To explore the association between body mass index (BMI) and hospital usage in the elderly.Design: Retrospective cohort study.Setting: Medicare Current Beneficiary Survey (1992–94).Participants: Eight thousand seven hundred fifty‐four noninstitutionalized individuals aged 65 to 100 without cancer at baseline and with available data on height and weight.Measurements: BMI categorized by quintiles and by the 1998 National Heart Lung and Blood Institute (NHLBI) BMI classification. Poisson regression was used for multivariate analyses relating BMI to number of hospitalizations, adjusting for sex, age, smoking status, and heart disease.Results: During 20,464 years of observation, 1,199 individuals had 4,096 hospitalizations and 34,190 hospital days. Individuals in the lowest BMI quintile had a higher risk of hospitalization than those in the middle BMI quintile (RR=1.22; 95% confidence interval=1.1–1.4); stratified analyses by age revealed that this association remained for individuals aged 65 to 75. Using the NHLBI classification, underweight, overweight, mild obesity, and moderate to severe obesity were related to higher risk of hospitalizations than normal BMI in individuals aged 65 to 75. In individuals older than 75, underweight, overweight, and mild obesity were not related to a higher risk of hospitalizations. Moderate to severe obesity was related to a higher risk of hospitalization in individuals aged 75 to 89, which represented only 1.5% of the sample.Conclusion: BMI is not a predictor of hospitalization for most individuals aged 75 and older.
Cognitive Impairment Decreases Postural Control During Dual Tasks in Geriatric Patients with a History of Severe Falls
Authors: Hauer Klaus , Pfisterer Mathias , Weber Christine , Wezler Nikolai , Kliegel Mattias , Oster Peter 
Published: October 2003

Objectives: To investigate the influence of dual tasks, cognitive strategies, and fear of falling on postural control in geriatric patients with or without cognitive impairment and with a history of falls resulting in injury.Design: Experimental three‐group design.Setting: Geriatric hospital.Participants: Twenty young healthy adults (mean age±standard deviation=25.4±4.4), 20 geriatric patients with a history of severe falls without cognitive impairment (mean age=82.6±5.5, mean Mini‐Mental State Examination (MMSE) score=27.8±2.0) and 20 geriatric patients with a history of severe falls and cognitive impairment (mean age=83.2±5.5, mean MMSE=19.2±3.3).Measurements: Motor performance: sway area and lateral and anterior‐posterior sway angles. Cognition: semiautomated calculation steps (serial 2 forward) and nonautomated calculation derived from MMSE (serial 7 retro). Motor and cognitive performances were examined as single and dual tasks. Strategy decision, fear of falling, and subjective perception of motor and cognitive performance were assessed as covariates for dual‐task performances.Results: Motor performance decreased significantly during all dual tasks in geriatric patients with cognitive impairment and a history of falls resulting in injury. Cognitive performance was different depending on the task and group. Choice of cognitive strategies or fear of falling did not influence the dual‐task performances.Conclusion: Even simple additional tasks substantially decrease postural stability due to attention‐related cognitive deficits in cognitively impaired geriatric patients with a history of severe falls. The findings may help to explain the increased incidence and severity of falls in geriatric patients with cognitive impairment and a history of falls resulting in injury.
Blood Pressure Concordance in Older Married Mexican‐American Couples
Authors: Peek M. Kristen , Markides Kyriakos S. 
Published: October 2003

There is a strong link between marital status and health. What has been lacking in previous literature is the attention to health similarities or concordance in health between married adults, especially in older ethnic couples. To address the issue of health concordance, the investigators examined the extent to which blood pressure is concordant between older Mexican‐American spouses. Using Wave 1 of the Hispanic Established Population for the Epidemiological Study of the Elderly (n=553 married couples), ordinary least squares and logistic regression were conducted to assess the degree of similarity between married adults for systolic and diastolic blood pressure (measured as an average and as percent hypertensive).Strong associations were found between spouses for both systolic and diastolic blood pressure (correlation coefficient=0.32 and 0.34, respectively). These associations remain even when spouse age, weight, and health characteristics are included in the models. With life expectancy and the time spent in marriage increasing, examining the concordance in health between older adults becomes increasingly important to target older spouses at risk for declines in health.
Effects of rejuvenation and frozen storage on 42‐day‐old AS‐3 RBCs
Authors: Lockwood William B. , Hudgens Russell W. , Szymanski Irula O. , Teno Richard A. , Gray Alan D. 
Published: October 2003

BACKGROUND:  A storage period of 42 days has been approved by the FDA for RBCs stored in NUTRICEL (AS‐3). This study was undertaken to provide data to the FDA about the feasibility of salvaging AS‐3 RBCs at the end of their storage period by rejuvenation and freezing, and to evaluate the effect of rejuvenation on indicators of RBC function.STUDY DESIGN AND METHODS:  Healthy adults (n = 22) donated 450 mL of whole blood, and RBC components were prepared at two study sites. The components were stored at 1 to 6°C for either 41 days (nonrejuvenated frozen controls, n = 6) or 42 days (rejuvenated frozen study group, n = 10; nonrejuvenated nonfrozen controls, n = 6). Rejuvenated study components and nonrejuvenated frozen controls were stored at −70°C for longer than 2 weeks. Frozen units were then deglycerolized and kept for an additional 24 hours at 1 to 6°C.RESULTS:  2,3‐DPG, and ATP were reduced after 42‐day storage to near 0 and 65 percent, respectively, of their original values. After rejuvenation and deglycerolization, the mean ATP level was 146 percent and the mean 2,3‐DPG was 115 percent. The percent freeze‐thaw‐wash recovery was similar for rejuvenated and nonrejuvenated RBCs. Trace amounts of hypoxanthine and inosine were detected in rejuvenated units. The mean 24‐hour survival (single‐ or double‐label technique) of all components exceeded 75 percent. The t1/2 of study and control RBCs was similar.CONCLUSION:  The ability of 42‐day‐old AS‐3 RBCs to deliver oxygen after rejuvenation and freezing is not impaired. These data indicate that rejuvenated AS‐3 RBCs can provide a safe and beneficial blood component immediately upon infusion.
HGV/GB virus C transmission by blood components in patients undergoing open‐heart surgery
Authors: Sentjens Roel , Basaras Miren , Simmonds Peter , Vrielink Hans , Reesink Henk 
Published: October 2003

BACKGROUND:  To establish the rate of HGV/GB virus C (GBV‐C) transmission by blood components in open‐heart surgery patients.STUDY DESIGN AND METHODS:  From 55 patients receiving blood components, sera were collected before and 2, 4, 6, 8, 10, 12, 16, 20, 26, and 32 weeks after heart surgery. Serum samples from patients and implicated blood donations were tested for HGV/GBV‐C RNA by PCR. Recipients of RNA‐positive blood components were also tested for the presence of E2 antibodies (E2Ab) by ELISA.RESULTS:  Of 55 recipients, 18 received RNA‐positive blood components. Of 14 recipients of RNA‐positive blood components, who were negative for RNA or E2Ab before transfusion, 8 became RNA positive and one developed E2Ab after transfusion. Three recipients of RNA‐positive blood components had E2Ab before transfusion, and none of these became RNA positive after transfusion. One of 18 recipients was RNA positive before and after transfusion. Of 55 recipients, 37 received RNA‐negative blood components: 34 were RNA negative before and after transfusion. Of 37 recipients, 3 were RNA positive before and after transfusion.CONCLUSION:  Of susceptible patients, 64 percent became infected with HGV/GVC‐C when transfused with RNA‐positive blood components. E2Ab‐positive patients were protected against HGV/GBV‐C infection.