bluuebunny/crossref_metadata_2025 huggingface dataset:
Assessing the Risk of Invasive Spread in Fragmented Landscapes
Authors: With Kimberly A.
Published: September 2004

Little theoretical work has investigated how landscape structure affects invasive spread, even though broad‐scale disturbances caused by habitat loss and fragmentation are believed to facilitate the spread of exotic species. Neutral landscape models (NLMs), derived from percolation theory in the field of landscape ecology, provide a tool for assessing the risk of invasive spread in fragmented landscapes. A percolation‐based analysis of the potential for invasive spread in fragmented landscapes predicts that invasive spread may be enormously enhanced beyond some threshold level of habitat loss, which depends upon the species' dispersal abilities and the degree of habitat fragmentation. Assuming that invasive species spread primarily through disturbed areas of the landscape, poor dispersers may spread better in landscapes in which disturbances are concentrated in space, whereas good dispersers are predicted to spread better in landscapes where disturbances are small and dispersed (i.e., fragmented landscape). Assessing the risk of invasive spread in fragmented landscapes ultimately requires understanding the relative effects of landscape structure on processes that contribute to invasive spread—dispersal (successful colonization) and demography (successful establishment). Colonization success is predicted to be highest when >20% of the landscape has been disturbed, particularly if disturbances are large or aggregated in space, because propagules are more likely to encounter sites suitable for colonization and establishment. However, landscape pattern becomes less important for predicting colonization success if species are capable of occasional long‐distance dispersal events. Invasive species are also more likely to persist and achieve positive population growth rates (successful establishment) in landscapes with clumped disturbance patterns, which can then function as population sources that produce immigrants that invade other landscapes. Finally, the invasibility of communities may be greatest in landscapes with a concentrated pattern of disturbance, especially below some critical threshold of biodiversity. Below the critical biodiversity threshold, the introduction of a single species can trigger a cascade of extinctions among indigenous species. The application of NLMs may thus offer new insights and opportunities for the management and restoration of landscapes so as to slow the spread of invasive species.
What Can Decision Analysis Do for Invasive Species Management?
Authors: Maguire Lynn A.
Published: September 2004

Decisions about management of invasive species are difficult for all the reasons typically addressed by multiattribute decision analysis: uncertain outcomes, multiple and conflicting objectives, and many interested parties with differing views on both facts and values. This article illustrates how the tools of multiattribute analysis can improve management of invasive species, with an emphasis on making explicit the social values and preferences that must inform invasive species management. Risk assessment protocols developed previously for invasive species management typically suffer from two interacting flaws: (1) separating risk assessment from risk management, thus disrupting essential connections between the social values at stake in invasive species decisions and the scientific knowledge necessary to predict the likely impacts of management actions, and (2) relying on expert judgment about risk framed in qualitative and value‐laden terms, inadvertently mixing the expert's judgment about what is likely to happen with personal preferences. Using the values structuring and probability‐modeling elements of formal decision analysis can remedy these difficulties and make invasive species management responsive to both good science and public values. The management of feral pigs in Hawaiian ecosystems illustrates the need for such an integrated approach.
Habitat Destruction, Fragmentation, and Disturbance Promote Invasion by Habitat Generalists in a Multispecies Metapopulation
Authors: Marvier Michelle , Kareiva Peter , Neubert Michael G.
Published: September 2004

Species invasions are extremely common and are vastly outpacing the ability of resource agencies to address each invasion, one species at a time. Management actions that target the whole landscape or ecosystem may provide more cost‐effective protection against the establishment of invasive species than a species‐by‐species approach. To explore what ecosystem‐level actions might effectively reduce invasions, we developed a multispecies, multihabitat metapopulation model. We assume that species that successfully establish themselves outside their native range tend to be habitat generalists and that a tradeoff exists between competitive ability and habitat breadth, such that habitat specialists are competitively superior to habitat generalists. In this model, habitat destruction, fragmentation, and short‐term disturbances all favor invasion by habitat generalists, despite the inferior competitive abilities of generalist species. Our model results illustrate that providing relatively undisturbed habitat and preventing further habitat degradation and fragmentation can provide a highly cost‐effective defense against invasive species.
Mathematical Methods in Combatting Terrorism
Authors: Harris Bernard
Published: September 2004

This document is a preliminary report on the role that mathematical and statistical methods might play in the defense against terrorist attacks. In no way does this replace the efforts of law enforcement agenices or intelligence activities. The hope is that mathematical techniques can make their efforts more efficient. The ideas enumerated here utilize the notion of probabilistic risk analysis, which was developed for the purpose of assessing the safety of nuclear reactors, as well as randomization and game theory. More extensive work in these directions is contemplated for the future. The author is planning workshops to evaluate the ideas presented here and to elicit additional methodologies that may prove useful in this endeavor.
Use of Advances in Technology for Maritime Risk Assessment
Authors: Wang J. , Sii H. S. , Yang J. B. , Pillay A. , Yu D. , Liu J. , Maistralis E. , A. Saajedi
Published: September 2004

The maritime industry is moving toward a “goal‐setting” risk‐based regime. This opens the way to safety engineers to explore and exploit flexible and advanced risk modeling and decision‐making approaches in the design and operation processes. In this article, following a brief review of the current status of maritime risk assessment, a design/operation selection framework and a design/operation optimization framework are outlined. A general discussion of control engineering techniques and their application to risk modeling and decision making is given. Four novel risk modeling and decision‐making approaches are then outlined with illustrative examples to demonstrate their use. Such approaches may be used as alternatives to facilitate risk modeling and decision making in situations where conventional techniques cannot be appropriately applied. Finally, recommendations on further exploitation of advances in general engineering and technology are suggested with respect to risk modeling and decision making.
From Function to Competency in Public Health Nursing, 1931 to 2003
Authors: Abrams Sarah E.
Published: September 2004

Abstract  Explaining the content of public health nursing practice is not a new phenomenon. This historical narrative examines two documents published in the first Public Health Nursing journal, in which the National Organization for Public Health Nursing (NOPHN) described the nature of public health nursing for the profession and for those who administered programs employing public health nurses. While changes in language reflect evolution of both the nursing profession and public health practice, consistencies in purpose and the core understanding of public health nursing link these documents conceptually to the recent statement of Public Health Nurse Competencies (Quad Council, 2003).
Maternal Bacterial Vaginosis and Fetal/Infant Mortality in Eight Florida Counties, 1999 to 2000
Authors: Cottrell Barbara Hansen , Shannahan Mary
Published: September 2004

Abstract  This study determined the prevalence of maternal bacterial vaginosis (BV) in fetal/infant mortality cases and factors associated with BV. A retrospective descriptive study was utilized. Data were obtained from review of vital statistics and medical records of 176 women experiencing fetal/infant deaths in eight Florida counties, 1999 to 2000. Non‐White mothers accounted for 68.96% of deaths (chi square = 10.119, df = 4, p = 0.038), although the population of the eight counties was 64% White. Of 121 non‐White mothers (68.8%) with infections, 37 (30.6%) had BV. Most fetal/infant deaths (39.7%) occurred 20–23 weeks' gestation and at birthweights <500 g, as did most cases of BV (46%). Women with BV were more likely to be non‐White (OR 2.756, 95% CI 1.075, 7.066), single (OR 2.090, 95% CI 1.081, 7.246), <24 years old (t = 3.172, p = 0.002), and have <12 years of education (t = 2.56, p = 0.011). Findings support early screening and treatment for BV in women with these risk factors or a history of prior fetal/infant loss or preterm/low‐birthweight infant. Factors contributing to racial disparity in BV and fetal/infant mortality need further exploration.
Correlates of Intent for Repeat HIV Testing Among Low‐Income Women Attending an Urgent Care Clinic in the Urban South
Authors: Crosby Richard , Bonney Elizabeth A. , Odenat Lydia
Published: September 2004

Abstract  A central challenge of the AIDS epidemic among African American women is promoting acceptance of repeat HIV testing among those at risk of infection. We conducted an exploratory study designed to identify behavioral and psychosocial correlates of intent for repeat HIV testing among women disenfranchised from traditional health care delivery systems. Face‐to‐face interviews were conducted with 143 women attending an urgent care center in the urban South. In multivariate analyses, three psychosocial correlates were significantly associated with women's intent for repeat testing. Women who expressed less worry about HIV were substantially more likely, than those expressing greater worry, to report low intent for repeat testing [adjusted odds ratio (AOR) = 10.6, p = 0.001]. Concern about having blood drawn was also robustly associated with intent (AOR = 7.3, p = 0.002). Finally, a one unit increase on the 5‐point scale assessing less agreement that having HIV would make life complicated corresponded to 3.3 greater odds of indicating low intent (AOR = 3.3, p = 0.002). Study findings provide a potential focal point for efforts designed to promote repeat HIV testing among women from the study population.
An Intervention Study to Increase Colorectal Cancer Knowledge and Screening Among Community Elders
Authors: Powe Barbara D. , Ntekop Emmanuel , Barron Mia
Published: September 2004

Abstract This study evaluates the effectiveness of a culturally relevant intervention, delivered over 12 months on knowledge of colorectal cancer and participation in fecal occult blood testing. An experimental, repeated measures design was used. Free fecal occult blood testing was offered to the participants. Fifteen senior centers were randomly selected and assigned to the Cultural and Self‐Empowerment Group, the Modified Cultural Group, or the Traditional Group. Their mean age was 73.83 years, and their average educational level was 8.8 years. The majority was African American, female, and reported annual incomes ≤$10,000. Data were collected at baseline, at 6 months, and at 12 months. Participants in the Cultural and Self‐Empowerment Group had a significantly greater increase in their knowledge of colorectal cancer over time. Group membership and knowledge of colorectal cancer were significant predictors of participation in colorectal cancer screening. Participants in the Cultural and Self‐Empowerment Group and those with greater knowledge of colorectal cancer were more likely to participate in fecal occult blood testing at the end of the 12‐month period. Similar strategies may be implemented in community settings and health care agencies to inform elders about colorectal cancer.
Population‐Based Public Health Interventions: Innovations in Practice, Teaching, and Management. Part II
Authors: Keller Linda Olson , Strohschein Susan , Schaffer Marjorie A. , Lia‐Hoagberg Betty
Published: September 2004

Abstract The Intervention Wheel is a population‐based practice model that encompasses three levels of practice (community, systems, and individual/family) and 17 public health interventions. Each intervention and practice level contributes to improving population health. The Intervention Wheel, previously known as the Public Health Intervention Model, was originally introduced in 1998 by the Minnesota Department of Health, Section of Public Health Nursing (PHN). The model has been widely disseminated and used throughout the United States since that time. The evidence supporting the Intervention Wheel was recently subjected to a rigorous critique by regional and national experts. This critical process, which involved hundreds of public health nurses, resulted in a more robust Intervention Wheel and established the validity of the model. The critique also produced basic steps and best practices for each of the 17 interventions. Part I describes the Intervention Wheel, defines population‐based practice, and details the recommended modifications and validation process. Part II provides examples of the innovative ways that the Intervention Wheel is being used in public health/PHN practice, education, and administration. The two articles provide a foundation and vision for population‐based PHN practice and direction for improving population health.
An Active Learning Experience in Health Policy for Baccalaureate Nursing Students
Authors: Byrd Mary E. , Costello Joanne , Shelton Carol R. , Thomas Patricia A. , Petrarca Dorothy
Published: September 2004

Abstract Nurses have the potential to promote the public's health through active involvement in shaping health and social policy. Preparing nursing students to influence public policy is a major component of the curriculum in public/community health nursing. A series of learning experiences was designed to engage students in this process. First, students participate in information sessions at the State Health Department and the State House. This provides them with opportunities to engage in dialogue with public health leaders as well as advocates from both professional organizations and community groups. Next, students identify the legislators who represent them in the community and write a narrative that describes the legislators' interest and commitment to health‐related legislation. Lastly, students work in clinical groups to analyze a public health problem that can be addressed through public policy interventions. This has led to the students testifying at legislative hearings and working with community groups involved with the issue. The students present their findings to their peers and to the wider college community. Through these learning experiences, students gain practical experience in understanding the political process that leads to important policy change. This in turn prepares them for their roles as professional nurses and involved citizens.
Production of polyclonal antiserum against recombinant VP28 protein and its application for the detection of white spot syndrome virus in crustaceans
Authors: Yoganandhan K , Syed Musthaq S , Narayanan R B , Sahul Hameed A S
Published: September 2004

The VP28 gene of white spot syndrome virus (WSSV) was cloned into pRSET B expression vector. The VP28 protein was expressed as a protein with a 6‐histidine taq in Escherichia coli GJ1158 with NaCl induction. Antiserum was raised against this recombinant‐VP28 protein in rabbits and it recognized VP28 protein in naturally and experimentally WSSV‐infected shrimp, marine crabs, freshwater prawns and freshwater crabs. The antiserum did not recognize any of the other known WSSV structural proteins. Various organs such as eyestalks, head muscle, gill tissue, heart tissue, haemolymph, tail tissue and appendages were found to be good materials for detection of WSSV using the antiserum and detection of WSSV was successful in experimentally infected Penaeus monodon and P. indicus at 12 and 24 h post‐infection (p.i.), respectively. The antiserum was capable of detecting WSSV in 5 ng of total haemolymph protein from WSSV‐infected shrimp.
Skeletal myopathy in juvenile barramundi, Lates calcarifer (Bloch), cultured in potassium‐deficient saline groundwater
Authors: Partridge G J , Creeper J
Published: September 2004

Saline groundwater is being pumped from a number of locations in rural Western Australia to prevent secondary salinity impacting farmland, rural infrastructure and areas with high conservation value. Aquaculture may offset the costs of groundwater pumping, and the suitability of groundwater for finfish aquaculture is being assessed through bioassays. There are marked spatial variations in the ionic composition of saline ground water in Western Australia and this paper describes two bioassays investigating a saline, potassium‐deficient water source that resulted in mortalities in juvenile barramundi, Lates calcarifer (Bloch). Histopathological examination revealed severe degeneration and necrosis of skeletal muscles, marked hyperplasia of branchial chloride cells and renal tubular necrosis. Clinical chemistry findings included hypernatraemia and hyperchloridaemia of the blood plasma and lowered muscle potassium levels. It is concluded that the principal cause of death was skeletal myopathy induced by low water potassium levels.
Histological alterations in the liver of sea bream, Sparus aurata L., caused by short‐ or long‐term feeding with vegetable oils. Recovery of normal morphology after feeding fish oil as the sole lipid source
Authors: Caballero M J , Izquierdo M S , Kjørsvik E , Fernández A J , Rosenlund G
Published: September 2004

This study evaluated the effects of fish oil (FO) replacement by vegetable oils [soybean oil (SO), rapeseed oil (RO), linseed oil (LO)] and subsequent feeding with FO on the liver morphology of sea bream. A short‐term trial (3 months) and long‐term trial (6 months) were carried out feeding sea bream with the following experimental diets: FO100%; SO60% + FO40%; RO60% +FO40%; LO60% + FO40%; SO + RO +LO60% + FO40%. Finally, all groups from the long‐term trial were fed with FO100% for 95 days (washout period). Liver samples were taken for histological and biochemical studies. In both the short‐ and long‐term trials, livers of sea bream fed LO60% and SO + RO + LO60% showed a similar hepatic morphology to that observed in fish fed FO100%. In contrast, sea bream fed SO60% showed an intense steatosis, with foci of swollen hepatocytes containing numerous lipid vacuoles. After the washout period, a considerable reduction of the cytoplasmic vacuolation and the lipid vacuole accumulation were observed in the livers of fish fed the different experimental diets. The results of this study suggested that the type of non‐essential fatty acid, characteristic of vegetable oils, induces the appearance of steatosis in the following order: linoleic acid > linolenic acid > oleic acid. However, the liver alterations found during the experimental periods with vegetable oils are reversible when the fish are re‐fed with a balanced diet (FO100%), indicating the non‐pathological character of these histological changes.
Maternal – neonatal folate and vitamin B12 serum concentrations in Greeks and in Albanian immigrants
Authors: Schulpis K. , Spiropoulos A. , Gavrili S. , Karikas G. , Grigori C. , Vlachos G. , Papassotiriou I.
Published: September 2004

Background  Low folate and vitamin B12 concentrations during pregnancy are implicated with neural tube defects (NTD) and neurological manifestations in the neonates.

Aim  To compare serum concentrations of folate and vitamin B12 in 1025 Greek mothers, 908 immigrant Albanian mothers at delivery and in the cord blood of their neonates.

Methods  A 30 days food diary was kept from each mother. Folate and vitamin B12 sera concentrations were measured with Bayer ADVIA Centaur System.

Results  Energy, carbohydrates and total fat intake were significantly higher in Albanian mothers when compared with those of Greek origin. On the contrary, total protein, and especially animal protein intake were higher in the Greek mothers. Folate intake was similar between the two ethnic groups whereas vitamin B12 intake in Albanians was evaluated lower (1.8 ± 0.13 μg day−1) when compared with that of Greeks (2.8 ± 0.12 μg day−1; P < 0.001). Folate serum concentrations in mothers and newborns were similar (17.7 ± 9.1 and 26.5 ± 15.2 nm versus 18.1 ± 8.6 and 24.6 ± 14.7 nm, respectively P > 0.05) in the two ethnic groups. In contrast, vitamin B12 serum concentration was significantly lower (135.0 ± 19.6 pm) in the Albanian mothers compared with that of Greeks (164.5 ± 17.7 pm, P < 0.0001). Consequently, the vitamin concentrations was found lower in the newborns of Albanian origin (133.6 ± 11.8 pm) compared with that of Greek neonates (213.3 ± 11.4 pm, P < 0.0001).

Conclusions  (a) Folate serum concentrations in Greek and Albanian mothers and in their neonates were similar, (b) vitamin B12 serum concentrations, evaluated for first time in these ethnic groups, were significantly low in Albanians, both in mothers and newborns, (c) the low protein and especially the reduced animal protein intake from the Albanian mothers, possibly due to their low socio‐economic status, may be responsible for their decreased vitamin B12 serum concentrations and (d) vitamin B12 supplementation along with an increase of animal protein intake might improve the vitamin serum status in the Albanians.
Audit of successful weight maintenance in adult and paediatric survivors of thermal injury at a UK regional burn centre
Authors: Windle E. M.
Published: September 2004

Background  Thermal injury is associated with significant weight loss, particularly of lean body mass. Weight loss increases the risk of morbidity and increased length of stay (LOS). Appropriate nutrition support can improve these outcomes. The aim of this audit was to evaluate the success of nutrition intervention in minimizing weight loss in adults and children with thermal injury.

Method  Patients referred for nutrition support were monitored for weight change during their inpatient care episode. Sixty cases met the study criteria. Admission and discharge weight profiles were identified. The degree of weight loss was calculated. Comparison was made to a recognized standard of acceptable weight loss.

Results  On admission five (13.2%) adults were found to be clinically underweight. All children were within the acceptable weight percentile range. Adults demonstrated higher (mean ± SD) percentage weight loss (8.1 ± 6.0%) than children (4.7 ± 4.5%). About 76.7% of all cases met the standard used. More children (95.5%) met the standard than adults (65.8%).

Conclusions  Most subjects maintained weight within an acceptable limit during the inpatient episode. Children appeared particularly successful at weight maintenance. Reasons are multifactorial and warrant further investigation.
Validation of energy intake by dietary recall against different methods to assess energy expenditure
Authors: Lof M. , Forsum E.
Published: September 2004

Objectives  To compare the validity of dietary recalls and physical activity recalls and investigate some factors influencing this validity. To provide an example showing how procedures based on recalls of physical activity can assess the validity of dietary recalls and identify subjects constantly underreporting their energy intake (EI).

Design and subjects  Thirty‐seven women were studied using three 24‐h dietary recalls, two kinds of physical activity recalls, indirect calorimetry and the doubly labelled water method.

Results  The EI obtained using dietary recalls were biased with respect to body mass index (BMI) and attitudes towards body weight and dieting, whereas results obtained using a physical activity recall were not. Eighteen women produced underreports (UR), i.e. their average EI was below 76% of total energy expenditure (TEE), whereas 24 women reported an EI that was lower than TEE on all three recall days, i.e. constantly underreporting subjects. A physical activity recall identified 13 URs and 20 of the constantly underreporting subjects.

Conclusions  In contrast to estimates of EI, TEE assessed using physical activity recalls was not biased with respect to BMI or attitudes towards body weight and dieting. Recalls of physical activity represent potentially useful procedures for identifying URs and constantly underreporting subjects but are not accurate enough for individuals.
Genetic discrimination: the clinician perspective
Authors: Nedelcu R , Blazer KR , Schwerin BU , Gambol P , Mantha P , Uman GC , Weitzel JN
Published: September 2004

Clinicians attending continuing education sessions in California were surveyed about their beliefs and attitudes regarding genetic discrimination and their knowledge of protective legislation. Two hundred seventy‐one surveys were collected from physicians (n = 191) and nurses (n = 80). Most respondents lacked information or were misinformed about the existence of protective legislation (58.3%) or published cases of insurance discrimination (85.2%); 52.4% believed that mutation carriers have difficulty obtaining health insurance; 13% would not encourage genetic testing, despite a family history of cancer. Clinician concerns about potential genetic discrimination, and lack of information regarding protective legislation, may influence access to care.
Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations
Authors: Kumar A , Blanton SH , Babu M , Markandaya M , Girimaji SC
Published: September 2004

Patients with primary microcephaly, an autosomal recessive trait, have mild to severe mental retardation without any other neurological deficits. It is a genetically heterogeneous disorder with six known loci: MCPH1 to MCPH6. Only the genes for MCPH1 and MCPH5 have been identified so far. We have ascertained nine consanguineous families with primary microcephaly from India. To establish linkage of these nine families to known MCPH loci, microsatellite markers were selected from the candidate regions of each of the six known MCPH loci and used to genotype the families. The results were suggestive of linkage of three families to the MCPH5 locus and one family to the MCPH2 locus. The remaining five families were not linked to any of the known loci. DNA‐sequence analysis identified one known (Arg117X) and two novel (Trp1326X and Gln3060X) mutations in the three MCPH5‐linked families in a homozygous state. Three novel normal population variants (i.e., c.7605G > A, c.4449G > A, and c.5961 A > G) were also detected in the ASPM gene.
Genotype‐phenotype studies in three families with mutations in the polyglutamine‐binding protein 1 gene (PQBP1)
Authors: Kleefstra T , Franken CE , Arens YHJM , Ramakers GJA , Yntema HG , Sistermans EA , Hulsmans CFCH , Nillesen WN , Van Bokhoven H , De Vries BBA , Hamel BCJ
Published: September 2004

Recently, the polyglutamine‐binding protein 1 (PQBP1) gene was found to be mutated in five of 29 families studied with X‐linked mental retardation (XLMR) linked to Xp. The reported mutations include duplications or deletions of AG dinucleotides in the fourth coding exon that resulted in shifts of the open reading frame. Three of the five families with mutations in this newly identified XLMR gene have been reported previously. We characterized the phenotypic and neuropsychological features in the two unpublished families with aberrations in PQBP1 and in a family reported 10 years ago. In total, seven patients diagnosed with aberrations in this gene were examined, including a newly identified patient at 18 months of age. Additionally, the features were compared to those reported in the literature of three other families, comprising MRXS3 (Sutherland–Haan syndrome) MRX55 and MRXS8 (Renpenning syndrome). Characteristics seen in these patients are microcephaly, lean body habitus, short stature, striking facial appearance with long narrow faces, upward slant of the eyes, malar hypoplasia, prognathism, high‐arched palate and nasal speech. In addition, small testes and midline defects as anal atresia or imperforate anus, clefting of palate and/or uvula, iris coloboma and Tetralogy of Fallot are seen in several patients. These observations contribute to the phenotypic knowledge of patients with PQBP1 mutations and make this XLMR syndrome well recognizable to clinicians.
Cost analysis of DNA‐based testing in a large Canadian family with multiple endocrine neoplasia type 2
Authors: Gilchrist DM , Morrish DW , Bridge PJ , Brown JL
Published: September 2004

One of the major goals of genetic testing is the reduction of morbidity and mortality. Given the appropriate circumstances, this can result in reduction in health care costs. Such savings can be demonstrated most effectively in large families with mutations in well characterized, dominantly acting genes. In our large family, a point mutation TGC>CGC in exon 10 of the RET proto‐oncogene, which results in a missense mutation (Cys620Arg), was identified in two individuals. The proband has medullary thyroid carcinoma (MTC), as did her deceased mother. One son has MTC and Hirschsprung's disease. The proband's mother had nine siblings; the proband has three siblings, another son, and 69 maternal cousins. Genetic testing has been performed on the closest relatives and has identified four individuals with, and 54 individuals without, a familial RET mutation. Significant cost savings have been realized in both genetic testing and clinical surveillance. In this family, for every at‐risk individual identified as a true‐negative, the minimum yearly savings in clinical surveillance is $508 per person. As demonstrated by this case, economic costs of genetic diagnostics should take into account the potential saved monies in tests, both molecular and clinical.
T‐box genes and congenital heart/limb malformations
Authors: Isphording D , Leylek AM , Yeung J , Mischel A , Simon H‐G
Published: September 2004

Congenital malformations cause significant morbidity and mortality; however, the underlying basis for many of these developmental defects is not well understood. Over the past years, a new family of genes called T‐box genes has been identified that play essential roles during the development of various tissues and organs. A number of developmental syndromes have recently been shown to be linked to mutations in T‐box genes, and brought direct medical relevance to their study. This review emphasizes emerging data on the molecular, cell, and disease levels, which establish a basis for parallel events in limb and heart development, and suggests that common regulatory pathways are crucial for proper differentiation and growth of these embryonic structures.
Mechanisms regulating the development of the corpus callosum and its agenesis in mouse and human
Authors: Richards LJ , Plachez C , Ren T
Published: September 2004

The development of the corpus callosum depends on a large number of different cellular and molecular mechanisms. These include the formation of midline glial populations, and the expression of specific molecules required to guide callosal axons as they cross the midline. An additional mechanism used by callosal axons from neurons in the neocortex is to grow within the pathway formed by pioneering axons derived from neurons in the cingulate cortex. Data in humans and in mice suggest the possibility that different mechanisms may regulate the development of the corpus callosum across its rostrocaudal and dorsoventral axes. The complex developmental processes required for formation of the corpus callosum may provide some insight into why such a large number of human congenital syndromes are associated with agenesis of this structure.
BK viral infection in an Australian pediatric renal transplant population
Authors: Haysom L. , Rosenberg A. R. , Kainer G. , Waliuzzaman Z. M. , Roberts J. , Rawlinson W. D , Mackie F. E
Published: September 2004

Abstract: BK virus (BKV) is recognized as a significant cause of renal allograft dysfunction in adults, and there is growing awareness of its importance in the pediatric population. Eighteen pediatric renal transplant recipients and 18 age‐matched controls were prospectively studied. Anti‐BKV immunoglobulin G (IgG) and IgM titres were assayed in all subjects at entry to the study. Polymerase chain reaction (PCR) for BKV DNA was performed on urine and serum at entry, and prospectively tested again at 4, 8 and 12 months. Mean age ± s.d. of transplant recipients and controls was 14.6 ± 3.3 and 13.9 ± 0.33 yr respectively [not significant (NS)]. Transplant patients were studied at a mean time of 5.6 ± 4.2 yr post‐transplant. 56% of transplant patients and 39% of controls were seropositive (+ve BKV IgG) (NS). Plasma BKV PCR was positive in one transplant patient (who also had positive urine PCR) and in none of the controls. The prevalence of positive urine PCR in transplant patients was greater than in controls (33% vs. 0%, p = 0.02). Positive urine BKV PCR was more commonly found in patients treated with mycophenolate than azathioprine (p = 0.04). We conclude that the prevalence of BKV seropositivity and viral activation in this Australian pediatric renal transplant population is similar to that reported in adult and pediatric populations in other countries. BK viruria was more common in children with greater immunosuppression, suggesting that this group is at higher risk of BKV induced nephropathy.
Mycophenolate mofetil and reduced doses of cyclosporine in pediatric liver transplantation with chronic renal dysfunction: Changes in the immune responses
Authors: Ferraris Jorge R. , Duca Pablo , Prigoshin Norma , Tambutti Monica L. , Boldrini Gustavo , Cardoni Rita L. , D'Agostino Daniel
Published: September 2004

Abstract: The aim of this study was to study the incidence of chronic renal dysfunction in patients with more than 5 yr of follow‐up following liver transplantation and to evaluate the benefit of decreasing cyclosporine A (CsA) dose combined with mycophenolate mofetil (MMF) on renal function and immune response in these patients. Between 1988 and 1994, 60 children were transplanted, and 86% survived >5 yr post‐liver transplantation. Fourteen patients developed chronic renal dysfunction secondary to CsA toxicity as evaluated by renal biopsy. In 11 patients CsA dose was decreased to 40–90 mg/ml target levels and MMF 600 mg/m2twice daily was added to the immunosuppressive regimen. Plasma creatinine decreased (from 1.0 ± 0.03 to 0.8 ± 0.03 ng/dl, p < 0.007), creatinine clearance increased (from 66.8 ± 3.0 to 99.2 ± 6.3 ml/min/1.73 m2, p < 0.002) and microalbuminuria decreased (from 21.0 ± 8.6 to 3.6 ± 1.1 mg/24 h, p < 0.05) after 12 months of CsA combined with MMF therapy. During combined therapy the proliferative, cytolytic response and cytotoxic antibodies showed no significant changes, whereas CD4/CD8 ratio increased (from 1.2 ± 0.2 to 1.4 ± 0.1, p < 0.05). Tumor necrosis factor‐αsecretion increased (p < 0.005) during MMF therapy. The release of interleukin‐10 was strikingly augmented under both immunosuppressive regimens, but the release of transforming growth factor‐βand interferon‐γdid not change. Our findings indicate that initiation of MMF combined with reduced doses of CsA allowed the recovery of renal function with minor changes in the immune response.
Risk factors in pediatric stem cell transplantation for leukemia
Authors: Jernberg Åsa Gustafsson , Remberger Mats , Ringdén Olle , Winiarski Jacek
Published: September 2004

Abstract:  To investigate which factors impact on survival, relapse, relapse free survival, transplant‐related mortality (TRM) and graft‐versus‐host disease (GVHD) in children who undergo allogeneic stem cell transplantation, we included all 181 children transplanted due to leukemia at our unit. At the end of follow up 54% of the patients were alive, 27% had died due to relapse while 19% had died of other causes. Survival was similar in recipients of related (55%) and unrelated grafts (48%). Risk factors identified in univariate analysis were brought into a multivariable analysis. However, an unrelated donor was not identified as a risk factor for any of the five end‐points analysed. A donor positive for three to four herpes viruses increased the risk of acute GVHD, TRM and death. A female to male transplant increased the risk of TRM, particularly if combined with a mismatch. Early stage of disease as well as human leukocyte antigen (HLA)‐matching independently predicted survival. The risk of relapse increased after 1992. Chronic GVHD independently decreased the risk of relapse (relative risk RR, 0.39) and death (RR 0.42). We conclude that in children with leukemia other specific donor characteristics such as HLA‐matching, gender, parity, and exposure to herpes viruses were more important for outcome than relationship.
Twenty‐four‐hour ambulatory blood pressure profiles in liver transplant recipients
Authors: Del Compare Mónica E. , D'Agostino Daniel , Ferraris Jorge R. , Boldrini Gustavo , Waisman Gabriel , Krmar Rafael T.
Published: September 2004

Abstract: Twenty‐four‐hour ambulatory blood pressure monitoring (ABPM) has proven to have better reproducibility than office blood pressure (BP) and is increasingly used for the study of hypertension in children and adolescents. The aim of our study was to assess 24‐h BP profiles and to compare the results of office BP measurements with ABPM in stable liver transplant recipients transplanted before the age of 18 yr. ABPM was performed in 29 patients (nine males, 20 females), aged 3.9–24.8 yr (median 10.8 yr). The investigation was conducted 1.1–11.5 yr (median 5.1 yr) following transplantation. ABPM confirmed hypertension in one out of three office hypertensive patients. Seven patients (24%), whose office BP recordings were within the normotensive range, were reclassified as hypertensive. Non‐dippers (n = 17), arbitrarily defined as patients with less than 10% nocturnal fall in BP, were similarly distributed among patients with ambulatory normotension and ambulatory hypertension (χ2, p = 0.79). In addition, non‐dippers showed a negative correlation between 24‐h total urinary albumin excretion and both systolic and diastolic nocturnal decline in BP (Rho = −0.48, p < 0.05 and Rho = −0.86, p < 0.01, respectively). Our study found office BP readings to be poorly representative of 24‐h BP profile. Larger studies are needed to confirm our observations as well as to determine whether routine BP measurements in the follow‐up of paediatric liver transplant recipients should be based solely on office BP.
Priority for children in cadaveric kidney sharing: The strategy adopted in Sao Paulo, Brazil
Authors: Koch Nogueira Paulo C. , Amaral Alexandre S. R. , Boni Reginaldo , Pereira Luiz A. , Pinheiro Machado Paula G. , Pestana Jose O. M.
Published: September 2004

Abstract:  Early kidney transplantation is crucial in order to accomplish both optimal mental development and the best adult height in children with end‐stage renal disease. The aim was to evaluate the efficacy of the child priority policy for cadaveric kidney sharing adopted in the State of Sao Paulo (Brazil). We performed a retrospective study of data collected by the Government Transplant Department in São Paulo, involving all patients included in the waiting list from August 13, 1998 to December 31, 2001. During the study period, the child priority policy had been changed giving: period A – from the outset up to March 14, 2001, where the rule was to direct cadaveric kidneys obtained from children <12 yr, to recipients <12 yr; period B – from March 14, 2001 onwards, where the policy had been broadened to include cadaveric donors <18 yr, destined for recipients <18 yr. We performed the analysis of the data comprising 8940 patients, 8622 being adults (mean age = 48.6 ± 14.1 yr, 3594 females) and 318 children (mean age = 11.9 ± 5.1 yr, 156 females). Over the 3.5‐yr follow‐up there were 1964 deaths [1933 adults and 31 children, odds ratio (OR) 0.37; 95% CI 0.25–0.55], 1032 living donor kidney transplants (963 adults and 69 children, OR 2.20; 95% CI 1.66–2.93), and 556 cadaveric kidney transplants (444 adults and 112 children, OR 10.11; 95% CI 7.75–12.94). Three and a half years after being enrolled on the list, 24% of the children and 75% of the adults, respectively, were still awaiting a cadaveric kidney transplant (log rank test = 539, p < 0.00001). The analysis of period A vs. period B, suggests that the raising of the inclusion age upper limit to 18 yr, resulted in a twofold increase in the percentage of children being grafted within 6 months of enrollment. Overall, our data shows a slow rate of cadaveric kidney transplantation activity in Sao Paulo. Children's chances of receiving a living donor kidney almost doubled. Moreover, 19.5% of pediatric recipients had received their kidney within the first year of being enrolled on the waiting list. The scheme adopted in Sao Paulo is encouraging, but the results remain less favorable than those observed in other countries. The adoption of the priority policy did not result in an unacceptable increase of adult waiting time, given that the number of adults on our waiting list outweighs by far the number of children.
Successful renal transplantation following prior bone marrow transplantation in pediatric patients
Authors: Thomas Susan E. , Hutchinson Raymond J. , DebRoy Meelie , Magee John C.
Published: September 2004

Abstract:  Improving survival rates following pediatric bone marrow transplantation (BMT) will likely result in greater numbers of children progressing to end‐stage renal disease (ESRD) because of prior chemotherapy, irradiation, sepsis, and exposure to nephrotoxic agents. Renal transplantation remains the treatment of choice for ESRD; however, the safety of renal transplantation in this unique population is not well established. We report our experience with living related renal transplantation in three pediatric patients with ESRD following prior BMT. Two patients with neuroblastoma and ESRD because of BMT nephropathy, and one patient with Schimke immuno‐osseous dysplasia and ESRD because of immune complex mediated glomerulonephritis and nephrotic syndrome. Age at time of BMT ranged from 2 to 7 yr. All patients had stable bone marrow function prior to renal transplantation. Age at renal transplant ranged from 8 to 14 yr. All three patients have been managed with conventional immunosuppression, as no patient received a kidney and BMT from the same donor source. These patients are currently 7 months to 6 yr status post‐living related transplant. All have functioning bone marrow and kidney transplants, with serum creatinine levels ranging 0.6–1.2 mg/dL. There have been no episodes of rejection. One patient with a history of grade III skin and grade IV gastrointestinal‐graft‐vs.‐host disease (GI‐GVHD) prior to transplantation, had a mild flare of GI‐GVHD (grade I) post‐renal transplant and is currently asymptomatic. The incidence of opportunistic infection has been comparable with our pediatric renal transplant population without prior BMT. One patient was treated for basal cell carcinoma via wide local excision. Renal transplantation is an excellent option for the treatment of pediatric patients with ESRD following BMT. Short‐term results in this small population show promising patient and graft survival, however long‐term follow‐up is needed. Pre‐existing immune system impairment and bone marrow function should be taken into consideration when weighing different immunosuppressive agents for renal transplantation. Patients who have undergone renal transplantation following BMT are at high risk for opportunistic infections and malignancy, and need life‐long medical surveillance.
Current immunosuppressive agents in pediatric renal transplantation: Efficacy, side‐effects and utilization
Authors: Smith Jodi M. , Nemeth Thomas L. , McDonald Ruth A.
Published: September 2004

Abstract: Advances in immunosuppressive therapy over the past decade have led to dramatic improvements in graft survival. The immunosuppression that is used is center‐dependent and is constantly evolving with the development of new medications. The goal remains to find the best combination that will optimize graft survival, while minimizing the adverse effects.
Simultaneous surgical and interventional radiological approach to treat complicated biliary strictures after pediatric liver transplantation
Authors: Salvalaggio Paolo R. O. , Bambini Daniel A. , Donaldson James , Saker Martha , Whitington Peter F. , Alonso Estella M. , Superina Riccardo A.
Published: September 2004

Abstract:  Post‐transplantation biliary strictures occur in 5–15% of the pediatric liver transplant patients and are conventionally managed by interventional radiological techniques. Failure of this treatment leads to reoperation and sometimes to retransplantation. Herein, we describe a surgical approach and interventional radiologic approach to manage biliary strictures that failed the conventional radiologic treatment, in order to avoid retransplantation. Included in the study were eight children who underwent liver transplantation at our center or referred to our institution for evaluation of the biliary strictures that failed radiological treatment. Biliary strictures were confirmed by a narrowing of the biliary anastomosis on the percutaneous transhepatic cholangiogram. At surgery, a guide wire was introduced into the distal bile system through the use of an enterotomy in Roux limb. Over the guide wire, the stricture was ballooned and the diameter of the biliary tree was determined. A pigtail catheter was introduced on the biliary tree across the abdominal wall, the liver, the stricture and the anastomosis into the enterotomy. A final cholangiogram confirmed the positioning of the catheter. Mean follow‐up was 39.8 ± 20.8 months. All patients had their strictures successfully treated and survived the procedure. Three patients were readmitted to the hospital with fever. It was necessary to revise the hepaticojejunostomy in three patients because of cholangitis and/or recurrence of biliary stricture. Of the eight patients of this study, two required retransplantation and one died. We conclude that an aggressive combined surgical and radiologic approach can avoid retransplantation in patients with complicated post‐transplant biliary strictures.