bluuebunny/crossref_metadata_2025_split huggingface dataset:
ORIGINAL ARTICLE: Postpartum thyroid dysfunction and the long‐term risk of hypothyroidism: results from a 12‐year follow‐up study of women with and without postpartum thyroid dysfunction
Authors: Stuckey B G A , Kent G N , Ward L C , Brown S J , Walsh J P 
Published: February 2010

AbstractBackground  The long‐term risk of hypothyroidism following postpartum thyroid dysfunction (PPTD) is uncertain. Most previous studies have been small, short‐term or have lacked a control group.Objective  To ascertain the long‐term risk of hypothyroidism in women following PPTD.Design and participants  A 12‐year longitudinal study of 409 women (including 71 with PPTD) who previously participated in a PPTD prevalence study.Measurements  The primary outcome measure was hypothyroidism (defined as TSH greater than 4 mU/l or on thyroxine replacement) at follow‐up. Outcomes in women with and without PPTD were compared by logistic regression. Receiver operating characteristic analysis was used to determine the optimal cut‐off for baseline TSH as a predictor of hypothyroidism in the cohort.Results  At follow‐up, hypothyroidism was present in 27 of 71 women who had PPTD at baseline (38%) and 14 of 338 women without PPTD (4%). From multivariate analysis, odds ratios (with 95% confidence intervals) for hypothyroidism were – 4·8 (1·6, 14·1) for PPTD; 8·2 (2·8, 24·6) for positive thyroid peroxidase antibodies (TPOAb); 9·7 (2·6, 37·0) for the hypothyroid phase of PPTD and 51·4 (19·2, 137·5) for hypothyroid PPTD with positive TPOAb. A baseline TSH above 2·6 mU/l was the optimal cut‐off for predicting hypothyroidism (sensitivity 76%, specificity 86%).Conclusions  PPTD is a strong predictor of hypothyroidism in the long‐term. Women who present with postpartum hypothyroidism or have positive TPOAb are at particularly high risk, suggesting that close long‐term follow‐up is advisable if thyroxine replacement is not instituted at an early stage.
The growth hormone insulin‐like growth factor 1 axis in children and adolescents with inflammatory bowel disease and growth retardation
Authors: Wong S. C. , Smyth A. , McNeill E. , Galloway P. J. , Hassan K. , McGrogan P. , Ahmed S. F. 
Published: February 2010

SummaryContext  There is scarce knowledge about the growth hormone (GH) insulin‐like growth factor‐1 (IGF1) axis in children & adolescents with inflammatory bowel disease (IBD) and growth retardation.Objective  To describe the pattern of GH and IGF1 secretion in children & adolescents with IBD.Design  A retrospective review of 28 patients (23 M) of IBD (25 Crohn’s Disease and three Ulcerative Colitis) and growth retardation who had investigation of the GH/IGF‐1 axis. Height velocity (HV) and serum IGF1 were converted to standard deviation score (SDS); to account for delayed puberty in girls over 11 years and boys over 12 years, HV and serum IGF1 SDS were adjusted for bone age.Results  Median (range) age and Ht SDS at the time of endocrine evaluation was 14·3 years (7·7,17·0) and −2·0(−3·6,−0·9), respectively. Median HVSDS over the prior 12 months was −2·2(−7·7,2·8). Median peak serum GH on insulin tolerance test (ITT) was 5·8 mcg/l (1·3, 24·0), and median serum IGF1 SDS was −0·9(−3·1, 0·1). Five of 28 (18%) had a peak serum GH of >12 mcg/l. Overall, four had biochemical evidence of functional GH deficiency (peak GH < 3 mcg/l and IGF1 SDS < 0) and 11 children had biochemical evidence suggesting GH resistance (peak GH > 6 mcg/l and IGF1 SDS < 0). However, only one child had a peak serum GH > 6 mcg/l and a very low IGF1 SDS of <−2·0. There was a negative association between peak serum GH and Ht SDS (r = −0·49, P = 0·008), but there was no association with HV and there was no association between IGF1 SDS and Ht or HV SDS. IGF1 SDS showed a negative association with erythrocyte sedimentation rate (r = −0·41, P = 0·04).Conclusion  Growth retardation in children and adolescents with IBD is commonly associated with a range of biochemical abnormalities ranging from functional GH deficiency to GH resistance. In these children, poor relationship between systemic markers of growth and height velocity point to an important role of growth factors at the target organ level in modulating growth in children with IBD. The value of assessing the GH/IGF‐1 axis and whether it predicts subsequent response to growth‐promoting therapy requires further exploration.
Identification and characterization of circadian clock genes in the pea aphid Acyrthosiphon pisum
Authors: Cortés T. , Ortiz‐Rivas B. , Martínez‐Torres D. 
Published: February 2010

AbstractThe molecular basis of circadian clocks is highly evolutionarily conserved and has been best characterized in Drosophila and mouse. Analysis of the Acyrthosiphon pisum genome revealed the presence of orthologs of the following genes constituting the core of the circadian clock in Drosophila: period (per), timeless (tim), Clock, cycle, vrille, and Pdp1. However, the presence in A. pisum of orthologs of a mammal‐type in addition to a Drosophila‐type cryptochrome places the putative aphid clockwork closer to the ancestral insect system than to the Drosophila one. Most notably, five of these putative aphid core clock genes are highly divergent and exhibit accelerated rates of change (especially per and tim orthologs) suggesting that the aphid circadian clock has evolved to adapt to (unknown) aphid‐specific needs. Additionally, with the exception of jetlag (absent in the aphid) other genes included in the Drosophila circadian clock repertoire were found to be conserved in A. pisum. Expression analysis revealed circadian rhythmicity for some core genes as well as a significant effect of photoperiod in the amplitude of oscillations.
Genomic evidence for complementary purine metabolism in the pea aphid, Acyrthosiphon pisum, and its symbiotic bacterium Buchnera aphidicola
Authors: Ramsey J. S. , MacDonald S. J. , Jander G. , Nakabachi A. , Thomas G. H. , Douglas A. E. 
Published: February 2010

AbstractThe purine salvage pathway recycles purines to nucleotides, promoting efficient utilization of purine nucleotides. Exceptionally among animals with completely sequenced genomes, the pea aphid lacks key purine recycling genes that code for purine nucleoside phosphorylase and adenosine deaminase, indicating that the aphid can neither metabolize nucleosides to the corresponding purines, nor adenosine to inosine. Purine metabolism genes in the symbiotic bacterium Buchnera complement aphid genes, and Buchnera can meet its nucleotide requirement from aphid‐derived guanosine. Buchnera demand for nucleosides may have relaxed the selection for purine recycling in the aphid, leading to the loss of key aphid purine salvage genes. Further, the coupled purine metabolism of aphid and Buchnera could contribute to the dependence of the pea aphid on this symbiosis.
The pea aphid phylome: a complete catalogue of evolutionary histories and arthropod orthology and paralogy relationships for Acyrthosiphon pisum genes
Authors: Huerta‐Cepas J. , Marcet‐Houben M. , Pignatelli M. , Moya A. , Gabaldón T. 
Published: February 2010

AbstractPhylogenetic analyses serve many purposes, including the establishment of orthology relationships, the prediction of protein function and the detection of important evolutionary events. Within the context of the sequencing of the genome of the pea aphid, Acyrthosiphon pisum, we undertook a phylogenetic analysis for every protein of this species. The resulting phylome includes the evolutionary relationships of all predicted aphid proteins and their homologues among 13 other fully‐sequenced arthropods and three out‐group species. Subsequent analyses have revealed multiple gene expansions that are specific to aphids and have served to transfer functional annotations to 4058 pea aphid genes that display one‐to‐one orthology relationships with Drosophila melanogaster annotated genes. All phylogenies and alignments are accessible through the PhylomeDB database. Here we provide a description of this dataset and provide some examples on how can it be exploited.
Neuropeptide and neurohormone precursors in the pea aphid, Acyrthosiphon pisum
Authors: Huybrechts J. , Bonhomme J. , Minoli S. , Prunier‐Leterme N. , Dombrovsky A. , Abdel‐Latief M. , Robichon A. , Veenstra J. A. , Tagu D. 
Published: February 2010

AbstractAphids respond to environmental changes by developing alternative phenotypes with differing reproductive modes. Parthenogenetic reproduction occurs in spring and summer, whereas decreasing day lengths in autumn provoke the production of sexual forms. Changing environmental signals are relayed by brain neuroendocrine signals to the ovarioles. We combined bioinformatic analyses with brain peptidomics and cDNA analyses to establish a catalogue of pea aphid neuropeptides and neurohormones. 42 genes encoding neuropeptides and neurohormones were identified, of which several were supported by expressed sequence tags and/or peptide mass analyses. Interesting features of the pea aphid peptidome are the absence of genes coding for corazonin, vasopressin and sulfakinin and the presence of 10 different genes coding insulin related peptides, one of which appears to be very abundantly expressed.
Analysis of meiosis and cell cycle genes of the facultatively asexual pea aphid, Acyrthosiphon pisum(Hemiptera: Aphididae)
Authors: Srinivasan D. G. , Fenton B. , Jaubert‐Possamai S. , Jaouannet M. 
Published: February 2010

AbstractPhenotypic plasticity in response to environmental change is a common phenomenon, yet is poorly understood at the genetic and molecular level. Aphids exhibit a reproductive plasticity whereby seasonal changes result in asexual or sexual reproduction. To investigate the genetic basis of this reproductive plasticity, we assessed the meiosis and cell cycle gene repertoire in the genome of the pea aphid, Acyrthosiphon pisum. Aphids possess meiotic recombination genes and G1‐to‐S phase transition regulatory genes in gene copy numbers similar to other metazoans. However, mitotic and meiotic regulatory genes have duplicated, and several paralogues exhibit differential expression between reproductive morphs. Together, this suggests that cell cycle plasticity may be important in the evolution and mechanism of aphid reproductive plasticity.
Chromatin‐remodelling proteins of the pea aphid, Acyrthosiphon pisum (Harris)
Authors: Rider Jr S. D. , Srinivasan D. G. , Hilgarth R. S. 
Published: February 2010

AbstractAphids display extraordinary developmental plasticity in response to environmental cues. These differential responses to environmental changes may be due in part to changes in gene expression patterns. To understand the molecular basis for aphid developmental plasticity, we attempted to identify the chromatin‐remodelling machinery in the recently sequenced pea aphid genome. We find that the pea aphid possesses a complement of metazoan histone modifying enzymes with greater gene family diversity than that seen in a number of other arthropods. Several genes appear to have undergone recent duplication and divergence, potentially enabling greater combinatorial diversity among the chromatin‐remodelling complexes. The abundant aphid chromatin modifying enzymes may facilitate the phenotypic plasticity necessary to maintain the complex life cycle of the aphid.
Comparative analysis of detoxification enzymes in Acyrthosiphon pisum and Myzus persicae
Authors: Ramsey J. S. , Rider D. S. , Walsh T. K. , De Vos M. , Gordon K. H. J. , Ponnala L. , Macmil S. L. , Roe B. A. , Jander G. 
Published: February 2010

AbstractHerbivorous insects use detoxification enzymes, including cytochrome P450 monooxygenases, glutathione S‐transferases, and carboxy/cholinesterases, to metabolize otherwise deleterious plant secondary metabolites. Whereas Acyrthosiphon pisum (pea aphid) feeds almost exclusively from the Fabaceae, Myzus persicae (green peach aphid) feeds from hundreds of species in more than forty plant families. Therefore, M. persicae as a species would be exposed to a greater diversity of plant secondary metabolites than A. pisum, and has been predicted to require a larger complement of detoxification enzymes. A comparison of M. persicae cDNA and A. pisum genomic sequences is partially consistent with this hypothesis. There is evidence of at least 40% more cytochrome P450 genes in M. persicae than in A. pisum. In contrast, no major differences were found between the two species in the numbers of glutathione S‐transferases, and carboxy/cholinesterases. However, given the incomplete M. persicae cDNA data set, the number of identified detoxification genes in this species is likely to be an underestimate.
A functional DNA methylation system in the pea aphid, Acyrthosiphon pisum
Authors: Walsh T. K. , Brisson J. A. , Robertson H. M. , Gordon K. , Jaubert‐Possamai S. , Tagu D. , Edwards O. R. 
Published: February 2010

AbstractMethylation of cytosine is one of the main epigenetic mechanisms involved in controlling gene expression. Here we show that the pea aphid (Acyrthosiphon pisum) genome possesses homologues to all the DNA methyltransferases found in vertebrates, and that 0.69% (±0.25%) of all cytosines are methylated. Identified methylation sites are predominantly restricted to the coding sequence of genes at CpG sites. We identify twelve methylated genes, including genes that interact with juvenile hormone, a key endocrine signal in insects. Bioinformatic prediction using CpG ratios for all predicted genes suggest that a large proportion of genes are methylated within the pea aphid.
Who's the Expert? Rethinking authority in the face of intellectual disability
Authors: Carlson L. 
Published: February 2010

AbstractThis article poses the question, ‘Who is the expert?’ in relation to people with intellectual disabilities. It begins with an exploration of what it means to assert moral authority in relation to people with IDs, and makes the argument that ‘experts’ who draw moral boundaries, define conceptions of the ‘good’ and quality of life for people must consider how to occupy this position responsibly. It then considers a second form of authority –epistemic authority– and explores the moral responsibility that accompanies the practice of putting forth knowledge claims about ID. This involves acknowledging three potential problems: distancing, oppression and dehumanization. The article concludes with questions that point towards greater interdisciplinary dialogue regarding authority, responsibility and the role of the expert.
From autonomy to relationships: productive engagement with uncertainty
Authors: Clegg J. , Lansdall‐Welfare R. 
Published: February 2010

AbstractThis paper argues that we are at a point of change in ID services, that new ideas and different frames of reference are required to take services forward in the 21st century. We describe how contemporary thinking in architecture, philosophy and organisational theory can assist in generating service principles for specialist services that allow us to better address the continuing isolation that is the experience of many people with ID, and the moral judgements that can limit service possibilities. We do not seek to offer a rigid blueprint for any particular service but one that allows for agency from its participants and relationships between them.
A large cohort study of GJB2 mutations in Japanese hearing loss patients
Authors: Tsukada K , Nishio S , Usami S ,   the Deafness Gene Study Consortium
Published: February 2010

Tsukada K, Nishio S, Usami S, and the Deafness Gene Study Consortium. A large cohort study of GJB2 mutations in Japanese hearing loss patients. GJB2 is the gene most frequently associated with hereditary hearing loss, and the GJB2 mutation spectrums vary among different ethnic groups. In this study, the mutation spectrum as well as clinical features of patients with GJB2 mutations as found in more than 1000 Japanese hearing loss families are summarized. The present results show that the frequency of GJB2 mutations in the Japanese population with hearing loss is 14.2% overall and 25.2% in patients with congenital hearing loss. c.235delC was the most frequent allele (49.8%), was associated with a more severe phenotype, and was mainly found in patients who were diagnosed by the age of 3. In contrast, the second most frequent was p.V37I (16.5%), which has a milder phenotype and was mainly found in patients diagnosed at a higher age. Additional clinical features in hearing loss patients with GJB2 mutations in this study were the near absence of tinnitus, vestibular dysfunction and inner ear malformations.
Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?
Authors: Castronovo P , Delahaye‐Duriez A , Gervasini C , Azzollini J , Minier F , Russo S , Masciadri M , Selicorni A , Verloes A , Larizza L 
Published: February 2010

Castronovo P, Delahaye‐Duriez A, Gervasini C, Azzollini J, Minier F, Russo S, Masciadri M, Selicorni A, Verloes A, Larizza L. Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?Cornelia de Lange syndrome (CdLS) is a rare, congenital syndrome characterized by growth retardation, dysmorphic face, mental retardation and limb reduction defects. Clinical manifestations of CdLS can be extremely variable. Mutations in NIPBL, SMC1A and SMC3 genes, encoding for a regulator and two subunits of the cohesin complex, respectively, are found in 60–65% of CdLS patients. We report on a male with CdLS who is mosaic for the c.2827delA mutation in the NIPBL gene. Allele quantitation by pyrosequencing showed the presence of the mutation in about 10% and 33% of DNA samples from peripheral blood and buccal smears, respectively. The patient shows a complex phenotype: growth and psychomotor retardation are characteristic of the severe forms of CdLS, while the absence of severe limb reduction defects and major malformations are typical of the mild phenotype. He also has depigmentation areas following Blashko lines, an unusual finding in CdLS, which has been associated with mosaicism in other genetic conditions. This case represents the first evidence of somatic mosaicism in CdLS and explains the mild phenotype in the patient as compared to that predicted by a truncating mutation. Besides confirming the clinical and genetic heterogeneity of CdLS, this case also raises the likely underestimated mutation rate of known genes and points to the complexity of addressing genotype–phenotype correlations.
Late‐onset venous outflow obstruction treated by placement of a Foley balloon catheter in living donor liver transplantation using a left lobe
Authors: Nomura Ryohei , Ishizaki Yoichi , Sugo Hiroyuki , Yoshimoto Jiro , Imamura Hiroshi , Kawasaki Seiji 
Published: February 2010

Nomura R, Ishizaki Y, Sugo H, Yoshimoto J, Imamura, H, Kawasaki S. Late‐onset venous outflow obstruction treated by placement of a Foley balloon catheter in living donor liver transplantation using a left lobe.  Clin Transplant 2010: 24: 723–725. © 2010 John Wiley & Sons A/S.Abstract:  A 60‐yr‐old man having hepatitis C virus‐associated liver cirrhosis and hepatocellular carcinoma underwent living donor liver transplantation using a left liver graft. On post‐operative day 20, the patient developed a large amount of ascites and hypovolemic shock because of decreased venous return. Emergency laparotomy revealed that fixation of the round ligament to the abdominal wall was loose, and free movement of the graft into the right subphrenic space had caused twisting the hepatic vein. After upward traction of the round ligament, two Foley balloon catheters were inserted into the right subphrenic space to maintain the graft in the midline portion. The catheters with the balloons were removed on day 30 after re‐operation. This method is easy, simple and inexpensive for the treatment of hepatic venous outflow block after partial liver transplantation.
Genetic basis of differential opsin gene expression in cichlid fishes
Authors: CARLETON K. L. , HOFMANN C. M. , KLISZ C. , PATEL Z. , CHIRCUS L. M. , SIMENAUER L. H. , SOODOO N. , ALBERTSON R. C. , SER J. R. 
Published: February 2010

AbstractVisual sensitivity can be tuned by differential expression of opsin genes. Among African cichlid fishes, seven cone opsin genes are expressed in different combinations to produce diverse visual sensitivities. To determine the genetic architecture controlling these adaptive differences, we analysed genetic crosses between species expressing different complements of opsin genes. Quantitative genetic analyses suggest that expression is controlled by only a few loci with correlations among some genes. Genetic mapping identifies clear evidence of trans‐acting factors in two chromosomal regions that contribute to differences in opsin expression as well as one cis‐regulatory region. Therefore, both cis and trans regulation are important. The simple genetic architecture suggested by these results may explain why opsin gene expression is evolutionarily labile, and why similar patterns of expression have evolved repeatedly in different lineages.
Evolution of avian clutch size along latitudinal gradients: do seasonality, nest predation or breeding season length matter?
Authors: GRIEBELER E. M. , CAPRANO T. , BÖHNING‐GAESE K. 
Published: February 2010

AbstractBirds display a latitudinal gradient in clutch size with smaller clutches in the tropics and larger in the temperate region. Three factors have been proposed to affect this pattern: seasonality of resources (SR), nest predation and length of the breeding season (LBS). Here, we test the importance of these factors by modelling clutch size evolution within bird populations under different environmental settings. We use an individual‐based ecogenetic simulation model that combines principles from population ecology and life history theory. Results suggest that increasing SR from the tropics to the poles by itself or in combination with a decreasing predation rate and LBS can generate the latitudinal gradient in clutch size. Annual fecundity increases and annual adult survival rate decreases from the tropics to the poles. We further show that the annual number of breeding attempts that (together with clutch size) determines total annual egg production is an important trait to understand latitudinal patterns in these life history characteristics. Field experiments that manipulate environmental factors have to record effects not only on clutch size, but also on annual number of breeding attempts. We use our model to predict the outcome of such experiments under different environmental settings.
Inheritance pattern of aluminum tolerance in pea
Authors: Singh D. , Choudhary A. K. 
Published: February 2010

With 1 figure and 4 tables AbstractAn understanding of the inheritance of aluminum (Al) tolerance is important to breed for Al tolerant genotypes of pea (Pisum sativum L.). Therefore, an investigation was undertaken to infer genes governing Al tolerance in pea. To study the inheritance of Al tolerance, tolerant lines ‘Azad P1’ and ‘PC‐55‐11‐1‐2’ were crossed with sensitive lines ‘PC‐493‐5’ and ‘PSM‐2’. Parental, F1, F2 and backcross generations were grown in a nutrient solution containing 30 ppm of Al for haematoxylin staining and root regrowth and classified for tolerance by staining of root tips and root regrowth. The F1 hybrids responded similarly to the tolerant parents indicating dominance of Al tolerance over sensitivity. Segregation for tolerance vs. sensitivity in F2 fitted well with the 3 : 1 ratio expected for a single gene. The backcrosses involving dominant parents showed the dominant reaction on all the plants while those involving susceptible parents segregated into one tolerant to one sensitive ratio. Experimental results showed that Al tolerance is a monogenic dominant trait that can be easily transferred to desirable lines through backcross breeding programme.