bluuebunny/crossref_metadata_2025_split huggingface dataset:
Atypical phenotype associated with reported GCK exon 10 deletions: clinical judgement is needed alongside appropriate genetic investigations
Authors: Thanabalasingham G. , Kaur K. , Talbot F. , Colclough K. , Mathews A. , Taylor J. , Ellard S. , Owen K. R. 
Published: April 2013

AbstractBackgroundMaturity‐onset diabetes of the young (MODY) caused by heterozygous mutations in the glucokinase (GCK) gene typically presents with lifelong, stable, mild fasting hyperglycaemia. With the exception of pregnancy, patients with GCK‐MODY usually do not require pharmacological therapy. We report two unrelated patients whose initial genetic test results indicated a deletion of GCK exon 10, but whose clinical phenotypes were not typical of GCK‐MODY.Case reportsIn case 1, the patient was hyperglycaemic at diagnosis (glucose > 30 mmol/l) and elevated glucose levels > 10 mmol/l persisted after withdrawal of insulin therapy. The patient in case 2 was also hyperglycaemic at diagnosis [HbA1c > 86 mmol/mol (10%)], which improved with the introduction of oral hypoglycaemic agents. These clinical features were not consistent with GCK‐MODY. Both patients had a single nucleotide variant that prevented multiplex ligation‐dependent probe analysis, which generated a false positive result of a GCK exon 10 deletion.ConclusionFalse positive genetic results in these two unrelated cases were attributable to the presence of a rare single nucleotide variant that prevented ligation of the probe in the multiplex ligation‐dependent probe analysis kit used and falsely indicated deletion of exon 10 within GCK. Both cases had clinical features that did not tally with the typical GCK‐MODY phenotype. These cases emphasize the need to interpret the results of definitive genetic tests within the specific clinical context. Increased medical sequencing is likely to lead to more reports of novel mutations of uncertain significance. If genetic investigations do not agree with the clinical picture, clinicians should exercise caution when making therapeutic changes based on these results.
Pesticides and human diabetes: a link worth exploring?
Authors: Swaminathan K. 
Published: April 2013

AbstractIt is no exaggeration to claim that the ‘diabetes epidemic’ has become a ‘runaway train’ causing huge health and economic consequences, especially in the developing nations. Traditionally, the risk factors for diabetes have largely focused on genetics and lifestyle. Great emphasis is placed on lifestyle measures and finding novel pharmacological treatment options to combat diabetes, but there is increasing evidence linking environmental pollutants, especially pesticides, to the development of insulin resistance and Type 2 diabetes. Pesticide use has increased dramatically worldwide and the effects of pesticides on glucose metabolism are too significant for a possible diabetogenic link to be dismissed. The aim of this review article was to assess the links between pesticides and human diabetes with the goal of stimulating further research in this area.
Thickness and fit of mouthguard according to changing the holding conditions and the heating conditions of the mouthguard sheet
Authors: Mizuhashi Fumi , Koide Kaoru , Takahashi Mutsumi 
Published: April 2013

AbstractThe aim of this study was to examine the difference of the thickness and fit of the mouthguard sheet according to the holding conditions and the heating conditions. The material used in this study was Sports Mouthguard (3.8 mm thickness). Two holding conditions of the sheet were undertaken: One was the condition that the sheet was held all around the periphery, and the other was that the sheet was held at only four points. The sheets were formed using a vacuum former when the sheets were heated until they hung 2.0, 3.0, and 4.0 cm from the baseline. We measured the thickness of the mouthguard and calculated the ratio of changes. The fit of the mouthguard was also investigated. The differences of the ratio of changes in the thickness and the fit according to the holding conditions, heating conditions, and measurement areas were analyzed by three‐way anova. The results showed that the thickness differed significantly among the holding conditions, heating conditions, and measurement areas (P < 0.01). The condition that the sheet was held at only four points could maintain the thickness especially on the heating condition set at a hanging distance of 4.0 cm. The fit of the sheet differed among the heating conditions and measurement areas (P < 0.01), but not by the holding conditions. The thickness of the sheet could be maintained by holding the sheet only at four points without being inferior to the sheet held all around the periphery in the fit, and this result could be useful on fabricating proper mouthguard.
Spawning migration and larval drift of anadromous North Sea houting (Coregonus oxyrinchus) in the River IJssel, the Netherlands
Authors: Borcherding Jost , Breukelaar André W. , Winter Hendrik V. , König Ulrike 
Published: April 2013

AbstractAnadromous North Sea houting (NSH, Coregonus oxyrinchus) was historically distributed in the Wadden Sea extending from Jutland (Denmark) to the Schelde delta (Netherlands). The species has been considered extinct in the Rhine since the 1940s; however, a successful re‐introduction programme re‐established a self‐reproducing population. Telemetry data of adult NSH (NEDAP TRAIL System®) were used for a first description of the timing of spawning migrations of NSH in winter, but also suggested that the River IJssel, a lower branch of the Rhine, may serve as spawning ground. This was further proven in spring 2010 with drift net catches of 218 freshly hatched NSH larvae sampled directly upstream from Kampen, where the IJssel discharges into Lake IJsselmeer. These larvae did not differ between controls from a hatchery that were about 12 h of age, indicating that the drifting larvae of NSH must have hatched in upstream areas of the River IJssel.
Early stimulation treatment provides complete sensory‐induced protection from ischemic stroke under isoflurane anesthesia
Authors: Lay Christopher C. , Jacobs Nathan , Hancock Aneeka M. , Zhou Yi , Frostig Ron D. 
Published: April 2013

AbstractUsing a rodent model of ischemia [permanent middle cerebral artery occlusion (pMCAO)], previous studies demonstrated that whisker stimulation treatment completely protects the cortex from impending stroke when initiated within 2 h following pMCAO. When initiated 3 h post‐pMCAO, the identical treatment exacerbates stroke damage. Rats in these studies, however, were anesthetised with sodium pentobarbital, whereas human stroke patients are typically awake. To overcome this drawback, our laboratory has begun to use the anesthetic isoflurane, which allows rats to rapidly recover from pMCAO within minutes, to test stimulation treatment in awake rats and to determine whether isoflurane has an effect upon the pMCAO stroke model. We found no difference in infarct volume between pMCAO in untreated controls under either sodium pentobarbital or isoflurane, and the primary finding was that rats that received treatment immediately post‐pMCAO maintain cortical function and no stroke damage, whereas rats that received treatment 3 h post‐pMCAO exhibited eliminated cortical activity and extensive stroke damage. The only difference between anesthetics was the broad extent of evoked cortical activity observed during both functional imaging and electrophysiological recording, suggesting that the extent of evoked activity evident under isoflurane anesthesia is supported by underlying neuronal activity. Given the high degree of similarity with previous data, we conclude that the pMCAO stroke model is upheld with the use of isoflurane. This study demonstrated that the isoflurane‐anesthetised rat pMCAO model can be used for cerebrovascular studies, and allows for highly detailed investigation of potential novel treatments for ischemic stroke using awake, behaving animals.
Beauty in Proofs:Kant on Aesthetics in Mathematics
Authors: Breitenbach Angela 
Published: April 2013

AbstractIt is a common thought that mathematics can be not only true but also beautiful, and many of the greatest mathematicians have attached central importance to the aesthetic merit of their theorems, proofs and theories. But how, exactly, should we conceive of the character of beauty in mathematics? In this paper I suggest thatKant's philosophy provides the resources for a compelling answer to this question. Focusing on §62 of the ‘Critique of Aesthetic Judgment’, I argue against the common view thatKant's aesthetics leaves no room for beauty in mathematics. More specifically, I show that on theKantian account beauty in mathematics is a non‐conceptual response felt in light of our own creative activities involved in the process of mathematical reasoning. TheKantian proposal I thus develop provides a promising alternative toPlatonist accounts of beauty widespread among mathematicians. While on thePlatonist conception the experience of mathematical beauty consists in an intellectual insight into the fundamental structures of the universe, according to theKantian proposal the experience of beauty in mathematics is grounded in our felt awareness of the imaginative processes that lead to mathematical knowledge. TheKantian accountIdevelop thus offers to elucidate the connection between aesthetic reflection, creative imagination and mathematical cognition.
Brave New Fathers for a Brave New World? Fathers as Caregivers in an Evolving European Union
Authors: Caracciolo di Torella Eugenia 
Published: April 2013

AbstractThis article focuses on the role that fathers play when it comes to family responsibility, in particular the care of young children, and how EU policy and legislation have contributed to it. This is important for several reasons. From a theoretical perspective, access to care for fathers represents the other side of the access to paid employment for mothers debate, and completes the deconstruction of the two‐sphere structure. From a more practical point of view, including fathers in the work/family life reconciliation debate is essential for the achievement of important EU policies, such as employment and gender equality.Although society is ready for a change, the legislator has been slow to address it, thus fathers are still missing from the EU's reconciliation policy and legislation. Against this background, the decision of the Court of Justice in Roca Álvarez has, potentially, laid down the basis for a new model of fatherhood.
Cohesive zone modelling of low cycle fatigue cracks in cracked and notched specimens
Authors: Li H. , Yuan H. 
Published: April 2013

ABSTRACTA cyclic cohesive zone model (CZM) combined with the extended finite element method for the fatigue crack initiation and propagation in ductile materials was investigated under different loading conditions in C(T) specimens. Detailed experimental verification confirmed the known CZM could not predict effects of the loading ratio in fatigue crack properly. Including the loading ratio into the damage evolution equation described the loading ratio correctly. The CZM was used to predict both fatigue crack nucleation and propagation in a deep notched C(T) specimen. The simulations displayed reasonable agreement with experimental data in the stable stage of fatigue crack propagation and showed the potential for a unified description of fatigue crack nucleation and growth.
A new approach to HLA typing designed for solid organ transplantation: epityping and its application to the HLA‐A locus
Authors: Lougee E. , Morjaria S. , Shaw O. , Collins R. , Vaughan R. 
Published: April 2013

SummaryHLA‐specific antibodies bind discrete clusters of amino acids called epitopes, but serological assignment of antibody specificities makes no reference to this. As HLA typing for solid organ transplantation is provided at only medium (serologically equivalent) resolution, this means that recipient HLA antibodies to donor HLA epitopes may not be identified. We have designed a novel and rapid HLA‐A epitope typing method (epityping) using a two‐stage PCR‐SSP‐based method to detect the HLA‐A locus epitopes described by El Awar et al. 2007, Transplantation, 84, 532. The initial PCR step utilizes HLA‐A locus‐specific primers; the product is cleaned using the QIAquick Spin Purification procedure. The purified product is tested using our in‐house epitope‐specific primer panel, the results being visualized using gel electrophoresis. Twenty two UCLA DNA Exchange samples were epityped, blinded to the HLA type. Of the 75 primer pairs, the mean correlation coefficient was 0.95 with each sample giving 67 or more correct primer results. In all cases, it was possible to derive the first field classic HLA type from the epityping results. These results indicate that a method for identification of HLA epitopes which is comparable in time, cost and technical expertise to current HLA typing methods is achievable. Redesigning HLA typing to correlate with what the antibody binds should minimize inappropriate organ allocation. We suggest that epityping provides a more effective method than standard HLA typing for solid organ transplantation.
Longitudinal leak point pressure measurements in rats using a modified port à cath system
Authors: van Asselt Els , van Mastrigt Ron 
Published: April 2013

AbstractStress urinary incontinence, defined as involuntary loss of urine secondary to an increase in abdominal pressure, represents one of the most significant urological problems. Several animal models to simulate stress urinary incontinence have been presented, including methods to quantify leak point pressure. We have modified an existing leak point pressure procedure to longitudinally quantify stress urinary incontinence in rats by introducing the port à cath system. Reproducible leak point pressure measurements were carried out over a period of more than 40 days at different bladder volumes. Leak point pressure neither showed a significant relationship with the number of times anesthesia was applied nor a significant change over time. The port à cath system provided a reliable, sensitive device for longitudinal urinary bladder pressure measurements in animals with an implanted bladder catheter. This set‐up therefore enables the evaluation of bladder pressure in different models for stress urinary incontinence, such as vaginal distention or pudendal transection over long periods of time within the same animal.
Consumer involvement in the tertiary‐level education of mental health professionals: A systematic review
Authors: Happell Brenda , Byrne Louise , McAllister Margaret , Lampshire Debra , Roper Cath , Gaskin Cadeyrn J. , Martin Graham , Wynaden Dianne , McKenna Brian , Lakeman Richard , Platania‐Phung Chris , Hamer Helen 
Published: April 2013

AbstractA systematic review of the published work on consumer involvement in the education of health professionals was undertaken using the PRISMA guidelines. Searches of the CINAHL, MEDLINE, and PsychINFO electronic databases returned 487 records, and 20 met the inclusion criteria. Further papers were obtained through scanning the reference lists of those articles included from the initial published work search (n = 9) and contacting researchers in the field (n = 1). Thirty papers (representing 28 studies) were included in this review. Findings from three studies indicate that consumer involvement in the education of mental health professionals is limited and variable across professions. Evaluations of consumer involvement in 16 courses suggest that students gain insight into consumers' perspectives of: (i) what life is like for people with mental illness; (ii) mental illness itself; (iii) the experiences of admission to, and treatment within, mental health services; and (iv) how these services could be improved. Some students and educators, however, raised numerous concerns about consumer involvement in education (e.g. whether consumers were pursuing their own agendas, whether consumers' views were representative). Evaluations of consumer involvement in education are limited in that their main focus is on the perceptions of students. The findings of this review suggest that public policy expectations regarding consumer involvement in mental health services appear to be slowly affecting the education of mental health professionals. Future research needs to focus on determining the effect of consumer involvement in education on the behaviours and attitudes of students in healthcare environments.
Corporate Governance and the CEO Pay–Performance Link: Australian Evidence
Authors: Schultz Emma , Tian Gloria Y. , Twite Garry 
Published: April 2013

AbstractWe examine the influence of corporate governance mechanisms, namely blockholdings and board structure, on CEO pay–performance sensitivity in listed Australian firms. Results highlight blockholders' role in shaping observed pay–performance associations and their impact varying with their independence and relative magnitude of ownership. Monitoring blockholders increase the sensitivity of long‐term at‐risk pay to performance, better aligning manager and shareholder interests. However, consistent with a shorter investment horizon, insider blockholders increase (decrease) the responsiveness of cash bonuses (long‐term at‐risk pay). Finally, consistent with them affording less‐effective monitoring, larger boards raise (lower) the sensitivity of known pay (long‐term at‐risk pay) to performance.
First Japanese case of Pierson syndrome with mutations in LAMB2
Authors: Togawa Hiroko , Nakanishi Koichi , Mukaiyama Hironobu , Hama Taketsugu , Shima Yuko , Nakano Masaru , Fujita Naoya , Iijima Kazumoto , Yoshikawa Norishige 
Published: April 2013

AbstractPierson syndrome (OMIM 609049) is typically characterized by congenital nephritic syndrome and peculiar ocular anomalies with microcoria. It is caused by mutations in LAMB2, which encodes laminin β2. Approximately 50 mutations of LAMB2 from approximately 40 unrelated families have been identified; however, most of them were from Western countries. Although three patients in Asia with mutations of LAMB2 have been reported, they were not typical cases. We report the first Japanese case of Pierson syndrome with proven causative LAMB2 mutations. She presented with congenital nephrotic syndrome and bilateral microcoria at birth, and developed end‐stage renal disease at 2 months of age. This is the first report of a typical case from Asia. LAMB2 analysis by direct sequencing revealed the compound heterozygous mutations c.3974_3975insA (p.N1325KfsX1331, maternal, novel) in exon 25 and c.4519C>T (p.Q1507X, paternal) in exon 27. The phenotype due to LAMB2 mutations appears to be similar between different ethnic groups.
Hallopeau–Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene
Authors: Koshida Shigeki , Tsukamura Atsushi , Yanagi Takahide , Nakahara Sayuri , Takeuchi Yoshihiro , Kato Takashi , Tanaka Toshihiro , Nakano Hajime , Shimizu Hiroshi 
Published: April 2013

AbstractEpidermolysis bullosa (EB) is a group of inherited mechanobullous skin disease. The dystrophic EB (DEB), one subtype of EB, is inherited in an autosomal dominant DEB or in an autosomal recessive (RDEB). DEB is caused by mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils. Over 300 pathogenic mutations have been detected within COL7A in DEB. Patients with the Hallopeau‐Siemens type (HS‐RDEB), most severe form of DEB, frequently have premature termination codon (PTC) mutations on both alleles. PTC mutations on both alleles result in depleted mRNA and α1 helix, and failure to form the triple helix structure characteristic of type VII collagen. As patients with HS‐RDEB usually have a pair of heterozygous PTC mutations, there have been rarely reported homozygous ones in HS‐RDEB. We report the first case of HS‐RDEB homozygous PTC mutations of 5818delC in both COL7A1 alleles. This case report suggests the positional effect of PTC mutations and vigilance against early infantile death in EB including HS‐RDEB.
Elizabethkingia meningoseptica: Emergent bacteria causing pneumonia in a critically ill child
Authors: da Silva Paulo Sergio Lucas , Pereira Graziella Hanna 
Published: April 2013

AbstractElizabethkingia meningoseptica is an unusual, highly resistant, gram‐ negative bacillus. While E. meningoseptica–associated meningitis outbreaks have been well‐documented in hospital neonatal wards and among immunocompromised adults, reports describing this microorganism in critically ill children are scarce. The purpose of this report was to describe a case of a 3 year‐old girl who developed pneumonia caused by E. meningoseptica in the setting of previous use of broad‐spectrum antibiotics and to review the pediatric literature regarding this pathogen.
Rapidly progressive and fatal neurocutaneous melanosis presenting as recurrent headache
Authors: Yamazaki Yasuhiro , Matsuzawa Tohru , Takasugi Kazuo , Suzuki Nozomu , Kanda Makoto , Kobayashi Ichiro 
Published: April 2013

AbstractNeurocutaneous melanosis is an extremely rare disease characterized by large or multiple congenital melanocytic nevi and benign or malignant proliferation of melanocytes in the central nervous system. Neurological manifestations usually develop during the first three years of life and the prognosis of patients with NCM who manifest neurological symptoms is very poor. Here we describe a 9‐year‐old girl who manifested neurological symptoms caused by communicating hydrocephalus and died of proliferation of melanocytes in the central nervous system 11 months after the initial symptoms. Serum and cerebrospinal fluid 5‐S‐CD levels could be a useful marker of disease progression, even in patients with NCM without apparent malignant findings at initial biopsy.
Coronary artery dilatation and vasculitis in a case of rabies: Similarity with Kawasaki disease?
Authors: Boukas Ibtissama , Dahdah Nagib , Robitaille Yves , Fournier Anne 
Published: April 2013

AbstractA 9‐year‐old boy died of rabies complications. We report the unusual combination between rabies, coronary dilatation on echocardiography and coronary vasculitis documented upon autopsy. In the search for the etiological agent of Kawasaki disease, we suggest that a viral infection with potential antigenic similarities to rabies virus should be entertained.
Diagnosis of epilepsy using an implantable loop recorder in a child with long‐QT syndrome type 3
Authors: Takahashi Kazuhiro , Miyake Akira , Otsuka Yoshimitsu , Ohfu Masaharu , Ganaha Hitoshi 
Published: April 2013

AbstractWe describe a case of a 10‐year‐old girl with genetically confirmed LQTS type 3 developed recurrent episodes of loss of consciousness due to epilepsy that was diagnosed by using an implantable loop recorder (ILR).
Peritoneal tuberculosis due to multidrug‐resistant Mycobacterium tuberculosis
Authors: Esposito Susanna , Bosis Samantha , Canazza Lorena , Tenconi Rossana , Torricelli Maurizio , Principi Nicola 
Published: April 2013

AbstractThe emergence of drug‐resistant Mycobacterium tuberculosis has been widely reported throughout the world, but there are very few data regarding children. We describe the case of a 14‐year‐old Peruvian adolescent who had been living in Italy since the age of 8 years and was diagnosed as having peritoneal tuberculosis (TB). While she was receiving first‐line anti‐TB therapy, she developed pyrazinamide‐associated thrombocytopenia and cultures revealed a multidrug‐resistant strain of Mycobacterium tuberculosis. Pyrazinamide, rifampicin and isoniazid were replaced by moxifloxacin, which was continued for 9 months together with ethambutol. The patient recovered without experiencing any drug‐related adverse event or the recurrence of TB in the following year. In conclusion, this case illustrates some of the problems that can arise when multidrug‐resistant TB has to be treated in children and adolescents, and also highlights the fact that further studies are needed to clarify which drugs should be used and for how long.