bluuebunny/crossref_metadata_2025_split huggingface dataset:
Lipoblastoma: Clinical Features, Treatment, and Outcome
Authors: Kok Kenneth Y. Y. , Telisinghe P. U. 
Published: February 2010

AbstractBackgroundLipoblastoma is a rare, benign, encapsulated tumor arising from embryonic white fat. On histology they typically contain variably differentiated adipocytes, primitive mesenchymal cells, myxoid matrix, and fibrous trabeculae. The tumor occurs primarily in infancy and early childhood. It often occurs in the extremities and trunk, and rarely develops in the head and neck and other sites.MethodsTen cases of histopathologically proven lipoblastoma presenting to our hospital during a 6‐year period (2003–2008) were reviewed retrospectively for their clinical presentations, treatment, postoperative outcome, and follow‐up.ResultsThere were five males and five females ranging in age from 6 months to 20 years. The commonest presentation was a painless rapidly growing mass. Tumors occurred in an extremity (n = 5), head and neck (n = 3), trunk (n = 1), and retroperitoneum (n = 1). Preoperative diagnosis was accurate in only one case. The largest tumor measuring 25‐cm × 20‐cm × 7‐cm and weighing 1.9 kg was excised from the retroperitoneum. All patients underwent complete surgical excision. Patient follow‐up period ranging from 9 to 76 months showed no recurrences and no metastases.ConclusionsLipoblastoma behaves benignly, occurs in both superficial and deep sites, and occasionally attains large size. Complete surgical excision is the treatment of choice and long‐term follow‐up is required because there is a reported tendency for these tumors to recur.
Fructose 1,6‐bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol‐stimulated monocytes with a note on long‐term prognosis
Authors: Åsberg Cristine , Hjalmarson Ola , Alm Jan , Martinsson Tommy , Waldenström Johan , Hellerud Christina 
Published: February 2010

AbstractFructose 1,6‐bisphosphatase (FBPase) deficiency is an inborn error of metabolism in the gluconeogenetic pathway. During periods of low food intake or infections, a defect in FBPase can result in hypoglycemia, ketonuria and metabolic acidosis. We established a diagnostic system for FBPase deficiency consisting of enzyme activity measurement and mutation detection in calcitriol‐stimulated monocytes. In healthy individuals, we showed that FBPase activity is present in monocytes but not in other leukocytes. We describe the clinical course of four individuals from two Swedish families with FBPase deficiency. Family 1: patient 1 died at the age of 6 months after a severe episode with hypoglycemia and acidosis; patients 2 and 3 were followed for >30 years and were found to have a very favorable long‐term prognosis. Their FBPase activity from jejunum (residual activity 15–25% of healthy controls), mixed leukocytes (low or normal levels), and calcitriol‐stimulated monocytes (no detectable activity) was compared. Mutation analysis showed they were heterozygous for two genetic alterations (c.778G>A; c.881G>A), predicting amino acid exchanges at position p.G260R and p.G294E, originating from their parents. Family 2: patient 4 had no detectable levels of FBPase in stimulated monocytes. A mutation (c.648C>G) predicting a premature stop codon at position p.Y216X was found in one allele and a large deletion of about 300 kb, where the genes FBP2, FBP1 and a part of ONPEP are located, in the other. In conclusion, we present a reliable diagnostic system to verify an FBPase deficiency and find the genetic aberration.
Diet and visually significant cataracts in galactosaemia: is regular follow up necessary?
Authors: Widger John , O'Toole Jennifer , Geoghegan Olivia , O'Keefe Micheal , Manning Rosemarie 
Published: February 2010

AbstractIntroductionClassic galactosaemia is caused by a recessively inherited deficiency of the enzyme galactose 1 phosphate uridyl transferase (GALT). Patients with classical galactosaemia are at increased risk of developing cataracts. We sought to retrospectively review the incidence and severity of cataracts in the cohort of galactosaemia patients attending our national treatment centre and to assess a possible effect of dietary compliance on cataract formation and the benefits of regular ophthalmic follow‐up.MethodsWe retrospectively reviewed the clinical notes of all patients currently attending our centre with classic galactosaemia and identified all those in whom cataracts had been diagnosed by an ophthalmologist. Compliance to diet was also reviewed and compared with a matched control group.ResultsOf 100 active patient charts, 14 had cataracts diagnosed at some stage. Six of these persisted whereas eight regressed. Three occurred soon after birth. Age at cataract formation varied from soon after birth to 19 years of age. There was no significant difference in the cataract group between those who were compliant and those who were noncompliant with diet (p = 0.09). There was no difference in compliance between the cataract group and the control group (p = 0.16). None of the cataracts found were affecting vision.ConclusionCataracts affecting vision were not found in our cohort. A direct relationship between dietary compliance and cataract formation was not demonstrated. On the basis of our data, regular life‐long ophthalmic exam of patients with classic galactosemia seems to be unnecessary.Take‐home messageCataracts which develop in patients with classical Galactosaemia do not usually affect vision and may be unrelated to compliance to diet.
Disease mechanisms and protein structures in fatty acid oxidation defects
Authors: Gregersen Niels , Olsen Rikke K. J. 
Published: February 2010

AbstractIn fatty acid oxidation defects, the majority of gene variations are of the missense type and, therefore, prone to inducing misfolding in the resulting mutant protein. The fate of the mutant protein depends on the nature of the gene variation and other genetic factors as well as cellular and environmental factors. Since it has been shown that certain fatty acid oxidation enzyme proteins, exemplified by mutant medium‐chain and short‐chain acyl‐CoA dehydrogenases as well as electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase, may accumulate during cellular stress, e.g. elevated temperature, there is speculation about how such proteins may disturb the integrity of the putative fatty acid oxidation metabolone, in which the two flavoproteins link the matrix‐located acyl‐CoA dehydrogenases to the respiratory chain in the mitochondrial inner membrane. However, since studies so far have not been able to define the fatty acid oxidation metabolone, it is concluded that new concepts and refined techniques are required to answer these questions and thereby contribute to the elucidation of the cellular pathophysiology and the genotype–phenotype relationship in fatty acid oxidation defects.
Oligodendrocyte development and myelinogenesis are not impaired by high concentrations of phenylalanine or its metabolites
Authors: Schoemans Renaud , Aigrot Marie‐Stéphane , Wu Chaohong , Marée Raphaël , Hong Pengyu , Belachew Shibeshi , Josse Claire , Lubetzki Catherine , Bours Vincent 
Published: February 2010

AbstractPhenylketonuria (PKU) is a metabolic genetic disease characterized by deficient phenylalanine hydroxylase (PAH) enzymatic activity. Brain hypomyelination has been reported in untreated patients, but its mechanism remains unclear. We therefore investigated the influence of phenylalanine (Phe), phenylpyruvate (PP), and phenylacetate (PA) on oligodendrocytes. We fisrt showed in a mouse model of PKU that the number of oligodendrocytes is not different in corpus callosum sections from adult mutants or from control brains. Then, using enriched oligodendroglial cultures, we detected no cytotoxic effect of high concentrations of Phe, PP, or PA. Finally, we analyzed the impact of Phe, PP, and PA on the myelination process in myelinating cocultures using both an in vitro index of myelination, based on activation of the myelin basic protein (MBP) promoter, and the direct quantification of myelin sheaths by both optical measurement and a bioinformatics method. None of these parameters was affected by the increased levels of Phe or its derivatives. Taken together, our data demonstrate that high levels of Phe, such as in PKU, are unlikely to directly induce brain hypomyelination, suggesting involvement of alternative mechanisms in this myelination defect.
Caring for the Caregivers: An Investigation of Factors Related to Well‐Being Among Parents Caring for a Child with Smith‐Magenis Syndrome
Authors: Foster Rebecca H. , Kozachek Stephanie , Stern Marilyn , Elsea Sarah H. 
Published: February 2010

AbstractSmith‐Magenis syndrome (SMS) is a complex disorder characterized by numerous challenges, including intellectual disability, speech delay, decreased pain sensitivity, sleep disturbances, hyperactivity, mood instability, and self‐injury. Caregivers must readily adapt to the ever‐changing needs of the child. Due to these demands, caregivers may encounter difficulties maintaining their own level of well‐being. Thus, a total of 112 primary caregivers (i.e., parents) of individuals diagnosed with SMS responded to online questionnaires to assess demographic and psychosocial factors, such as perceptions of child health vulnerability, benefit finding, sleep behaviors, anxiety and depression symptomatology, and caregiver satisfaction and self‐efficacy, which may be related to caregiver well‐being. Results show that, among mothers, caregiver well‐being was directly related to perceived child health vulnerability, caregiver satisfaction, and benefit finding, and a significant moderating effect was observed for depression/anxiety counseling after beginning the caregiver role on the relationship between anxiety symptomatology and caregiver well‐being. Results further suggest that maternal caregivers who report high levels of anxiety but do not seek counseling fair the worst in terms of well‐being. Among fathers, lower depression symptoms and greater benefit finding were related to higher levels of caregiver well‐being. These data show that many factors play roles in influencing coping and well‐being among SMS caregivers. Investigating these variables and relationships may reveal additional resources and interventions to assist primary caregivers.
The Role of Active Surveillance in the Management of Early Prostate Cancer and the Impact of the NICE Guidelines
Authors: Boddy J. , Lai N. , Lynch C. , Shahzad S.A. , Doherty A.P. , Wallace D.M.A. , Bhatt R.I. 
Published: February 2010

Objective: The aim of the current study was to assess the implementation of AS in the management of early PC within a typical urology department and determine the impact of the NICE guidelines on this. Materials and methods: Three cohorts of 100 patients diagnosed with PC were identified. Patient computer records and hospital notes were used to collect data on diagnosis and management details for each individual. Management strategies were then assessed and compliance with several key NICE guideline recommendations determined. Results: For low risk disease, 92% were offered active surveillance (AS) in 2006, 92% in 2007 and 93% in 2008. Of these 41% of patients in 2006 elected for AS, 61% in 2007 and 72% in 2008. For intermediate risk disease the percentages offered AS were 77% in 2006, 96% in 2007 and 84% in 2008. Of these patients 27%, 38% and 29% of patients elected for AS respectively. Conclusion: This study demonstrates that many of the recommendations made were already in practise prior to its publication. It also highlights an increase in the number of men electing for AS and that this trend preceded the guidelines. This increased uptake however, appears limited to low risk disease suggesting better patient awareness.
Viscous effects in two-layer, unidirectional hydraulic flow
Authors: SINGH MARTIN S. , HOGG ANDREW McC. 
Published: February 2010

Hydraulic equations are derived for a stratified (two-layer) flow in which the horizontal velocity varies continuously in the vertical. Viscosity is included in the governing equations, and the effect of friction in hydraulically controlled flows is examined. The analysis yields Froude numbers which depend upon the integrated inverse square of velocity but reduce to the original layered Froude numbers when velocity is constant with depth. The Froude numbers reveal a critical condition for hydraulic control, which equates to the arrest of internal gravity waves.Solutions are presented for the case of unidirectional flow through a lateral constriction, both with and without bottom drag. In the free-slip lower boundary case, viscosity transports momentum from the faster to the slower layer, thereby shifting the control point downstream and reducing the flux through the constriction. However, while the velocity shear at the interface between the two layers is reduced, the top-to-bottom velocity difference of the controlled solution is increased for larger values of viscosity. This counter-intuitive result is due to the restrictions placed on the flow at the hydraulic control point. When bottom drag is included in the model, the total flux may increase, in some cases exceeding that of the inviscid solution.
Schellenberg on divine hiddenness and religious scepticism
Authors: McCREARY MARK L. 
Published: February 2010

AbstractJ. L. Schellenberg has constructed major arguments for atheism based on divine hiddenness in two separate works. This paper reviews these arguments and highlights how they are grounded in reflections on perfect divine love. However, Schellenberg also defends what he calls the ‘subject mode’ of religious scepticism. I argue that if one accepts Schellenberg's scepticism, then the foundation of his divine-hiddenness arguments is undermined by calling into question some of his conclusions regarding perfect divine love. In other words, if his scepticism is correct, then Schellenberg's case for atheism cannot stand. Finally, I demonstrate how my argument avoids the many defences that Schellenberg has employed thus far in defending these particular atheistic arguments.
The doctrine of ‘the resurrection of the same body’ in early modern thought
Authors: STRICKLAND LLOYD 
Published: February 2010

AbstractThe Judaeo-Christian belief in the general resurrection has long been troubled by the issue of personal identity, but prior to the advent of such concerns there existed a cognate concern about the identity not of the resurrected person, but of the resurrected person's body. Although this latter issue has exercised scholars of various ages, concern with it was particularly keen in early modern times. In this paper I chart the various ways bodily identity was conceived by early modern thinkers in connection with the resurrection, as well as the key objections their contemporaries developed in response.
Gratuitous evil and divine providence
Authors: RHODA ALAN R. 
Published: February 2010

AbstractDiscussions of the evidential argument from evil generally pay little attention to how different models of divine providence constrain the theist's options for response. After describing four models of providence and general theistic strategies for engaging the evidential argument, I articulate and defend a definition of ‘gratuitous evil’ that renders the theological premise of the argument uncontroversial for theists. This forces theists to focus their fire on the evidential premise, enabling us to compare models of providence with respect to how plausibly they can resist it. I then assess the four models, concluding that theists are better off vis-à-vis the evidential argument if they reject meticulous providence.
Co-segregation of AMPA receptors with GM1 ganglioside in synaptosomal membrane subfractions
Authors: Cole Andy A. , Dosemeci Ayse , Reese Thomas S. 
Published: February 2010

Biochemical studies have suggested that certain synaptic proteins associate with lipid rafts to perform key functions within the synapse. However, variability in biochemical preparations raises questions as to which synaptic proteins actually associate with lipid rafts. In the present study, we use both electron microscopy and biochemistry to investigate AMPA (α-amino-3-hydroxy-5-methylisoxazole-4-propionic acid) receptor localization in synaptic membrane subfractions prepared in two different ways, by Triton X-100 detergent treatment or without detergent by sonication at high pH. Immunogold electron microscopy shows that a detergent-resistant synaptosomal membrane subfraction consists of empty vesicles 0.1–1.0 μm in diameter. A subpopulation of these vesicles labelled for glycosphingolipid GM1 ganglioside, a marker of lipid rafts, and 46% of the labelled vesicles also labelled for the AMPA receptor subunit GluR2. This co-segregation into specific vesicles does not depend on effects of detergent because a similar distribution of label was found in vesicles isolated without the use of detergent. Our results suggest that AMPA receptors localize within specific regions of synaptic membranes rich in GM1 ganglioside.
Language and Social Factors in the Use of Cell Phone Technology by Adolescents With and Without Specific Language Impairment (SLI)
Authors: Conti-Ramsden Gina , Durkin Kevin , Simkin Zoë 
Published: February 2010

PurposeThis study aimed to compare cell phone use (both oral and text-based) by adolescents with and without specific language impairment (SLI) and examine the extent to which language and social factors affect frequency of use.MethodBoth interview and diary methods were used to compare oral and text-based communication using cell phones by 17-year-olds: 52 adolescents with SLI and 52 typically developing (TD) peers.ResultsOverall, adolescents with SLI are motivated users of mobile technology, and they engage with both oral uses (phoning) and text-based uses (text messaging). However, adolescents with SLI do not exchange text messages as often as their TD peers. Social rather than language factors are associated with frequency of cell phone use in adolescence.ConclusionsThese findings indicate that social difficulties restrict text-based uses of cell phones by adolescents with SLI, which can in turn reduce the opportunities that these adolescents have to develop social networks and make arrangements to engage in peer social interaction.
Methicillin-ResistantStaphylococcus aureusColonization or Infection in Canada: National Surveillance and Changing Epidemiology, 1995–2007
Authors: Simor Andrew E. , Gilbert Nicolas L. , Gravel Denise , Mulvey Michael R. , Bryce Elizabeth , Loeb Mark , Matlow Anne , McGeer Allison , Louie Lisa , Campbell Jennifer ,   Canadian Nosocomial Infection Surveillance Program
Published: February 2010

Objective.To determine the incidence and describe the changing epidemiology of methicillin-resistantStaphylococcus aureus(MRSA) colonization or infection in Canadian hospitals from 1995–2007.Setting.Forty-eight hospitals participating in the Canadian Nosocomial Infection Surveillance Program.Design.Prospective, laboratory-based surveillance for incident cases of MRSA colonization or infection among hospitalized patients.Methods.Clinical and epidemiologic data were obtained by review of hospital records. Standard criteria were used to determine whether MRSA colonization or infection was present and whether the MRSA strain was healthcare associated or community associated. A representative subset of isolates was characterized by use of pulsed-field gel electrophoresis and staphylococcal cassette chromosome (SCC) mec typing.Results.From 1995 to 2007, a total of 37,169 hospitalized patients were newly identified as either infected or colonized with MRSA, and the overall incidence of both MRSA colonization and MRSA infection increased from 0.65 to 11.04 cases per 10,000 patient-days (P< .001). Of these 37,169 patients, 11,828 (32%) had an MRSA infection, and infection rate increased from 0.36 to 3.43 cases per 10,000 patient-days. The proportion of community-associated MRSA strains increased from 6% to 23% (P< .001). The most common genotype (47% of isolates) was CMRSA-2 (USA100/800); in 2007, CMRSA-10 (USA300) was the second most common strain (27% of isolates), associated with SCCmec type IV. Patients with CMRSA-10 were predominantly from western Canada and were more likely to be children (odds ratio [OR], 10.0 [95% confidence interval {CI}, 7.4–13.4]) and to have infection (OR, 2.3 [95% CI, 1.9–2.7]), especially skin and/or soft tissue infection (OR, 5.9 [95% CI, 5.0–6.9]).Conclusions.The overall incidence of both MRSA colonization and MRSA infection increased 17-fold in Canadian hospitals from 1995 to 2007. There has also been a dramatic increase in cases of community-associated MRSA infection due to the CMRSA-10 (USA300) clone. Continued surveillance is needed to monitor the ongoing evolution of MRSA colonization or infection in Canada and globally.
Estimating replicate time shifts using Gaussian process regression
Authors: Liu Qiang , Lin Kevin K. , Andersen Bogi , Smyth Padhraic , Ihler Alexander 
Published: February 2010

AbstractMotivation: Time-course gene expression datasets provide important insights into dynamic aspects of biological processes, such as circadian rhythms, cell cycle and organ development. In a typical microarray time-course experiment, measurements are obtained at each time point from multiple replicate samples. Accurately recovering the gene expression patterns from experimental observations is made challenging by both measurement noise and variation among replicates' rates of development. Prior work on this topic has focused on inference of expression patterns assuming that the replicate times are synchronized. We develop a statistical approach that simultaneously infers both (i) the underlying (hidden) expression profile for each gene, as well as (ii) the biological time for each individual replicate. Our approach is based on Gaussian process regression (GPR) combined with a probabilistic model that accounts for uncertainty about the biological development time of each replicate.Results: We apply GPR with uncertain measurement times to a microarray dataset of mRNA expression for the hair-growth cycle in mouse back skin, predicting both profile shapes and biological times for each replicate. The predicted time shifts show high consistency with independently obtained morphological estimates of relative development. We also show that the method systematically reduces prediction error on out-of-sample data, significantly reducing the mean squared error in a cross-validation study.Availability: Matlab code for GPR with uncertain time shifts is available at http://sli.ics.uci.edu/Code/GPRTimeshift/Contact: ihler@ics.uci.edu
SoDA2: a Hidden Markov Model approach for identification of immunoglobulin rearrangements
Authors: Munshaw Supriya , Kepler Thomas B. 
Published: February 2010

Abstract
Motivation: The inference of pre-mutation immunoglobulin (Ig) rearrangements is essential in the study of the antibody repertoires produced in response to infection, in B-cell neoplasms and in autoimmune disease. Often, there are several rearrangements that are nearly equivalent as candidates for a given Ig gene, but have different consequences in an analysis. Our aim in this article is to develop a probabilistic model of the rearrangement process and a Bayesian method for estimating posterior probabilities for the comparison of multiple plausible rearrangements.
Results: We have developed SoDA2, which is based on a Hidden Markov Model and used to compute the posterior probabilities of candidate rearrangements and to find those with the highest values among them. We validated the software on a set of simulated data, a set of clonally related sequences, and a group of randomly selected Ig heavy chains from Genbank. In most tests, SoDA2 performed better than other available software for the task. Furthermore, the output format has been redesigned, in part, to facilitate comparison of multiple solutions.
Availability: SoDA2 is available online at https://hippocrates.duhs.duke.edu/soda. Simulated sequences are available upon request.
Contact: kepler@duke.edu