bluuebunny/crossref_metadata_2025 huggingface dataset:
Network Inference Analysis Identifies an APRR2-Like Gene Linked to Pigment Accumulation in Tomato and Pepper Fruits
Authors: Pan Yu , Bradley Glyn , Pyke Kevin , Ball Graham , Lu Chungui , Fray Rupert , Marshall Alexandra , Jayasuta Subhalai , Baxter Charles , van Wijk Rik , Boyden Laurie , Cade Rebecca , Chapman Natalie H. , Fraser Paul D. , Hodgman Charlie , Seymour Graham B.
Published: January 2013

Carotenoids represent some of the most important secondary metabolites in the human diet, and tomato (Solanum lycopersicum) is a rich source of these health-promoting compounds. In this work, a novel and fruit-related regulator of pigment accumulation in tomato has been identified by artificial neural network inference analysis and its function validated in transgenic plants. A tomato fruit gene regulatory network was generated using artificial neural network inference analysis and transcription factor gene expression profiles derived from fruits sampled at various points during development and ripening. One of the transcription factor gene expression profiles with a sequence related to an Arabidopsis (Arabidopsis thaliana) ARABIDOPSIS PSEUDO RESPONSE REGULATOR2-LIKE gene (APRR2-Like) was up-regulated at the breaker stage in wild-type tomato fruits and, when overexpressed in transgenic lines, increased plastid number, area, and pigment content, enhancing the levels of chlorophyll in immature unripe fruits and carotenoids in red ripe fruits. Analysis of the transcriptome of transgenic lines overexpressing the tomato APPR2-Like gene revealed up-regulation of several ripening-related genes in the overexpression lines, providing a link between the expression of this tomato gene and the ripening process. A putative ortholog of the tomato APPR2-Like gene in sweet pepper (Capsicum annuum) was associated with pigment accumulation in fruit tissues. We conclude that the function of this gene is conserved across taxa and that it encodes a protein that has an important role in ripening.
Repression of Essential Chloroplast Genes Reveals New Signaling Pathways and Regulatory Feedback Loops inChlamydomonas
Authors: Ramundo Silvia , Rahire Michèle , Schaad Olivier , Rochaix Jean-David
Published: January 2013

Although reverse genetics has been used to elucidate the function of numerous chloroplast proteins, the characterization of essential plastid genes and their role in chloroplast biogenesis and cell survival has not yet been achieved. Therefore, we developed a robust repressible chloroplast gene expression system in the unicellular alga Chlamydomonas reinhardtii based mainly on a vitamin-repressible riboswitch, and we used this system to study the role of two essential chloroplast genes: ribosomal protein S12 (rps12), encoding a plastid ribosomal protein, and rpoA, encoding the α-subunit of chloroplast bacterial-like RNA polymerase. Repression of either of these two genes leads to the arrest of cell growth, and it induces a response that involves changes in expression of nuclear genes implicated in chloroplast biogenesis, protein turnover, and stress. This response also leads to the overaccumulation of several plastid transcripts and reveals the existence of multiple negative regulatory feedback loops in the chloroplast gene circuitry.
A Dominant Point Mutation in a RINGv E3 Ubiquitin Ligase Homoeologous Gene Leads to Cleistogamy inBrassica napus
Authors: Lu Yun-Hai , Arnaud Dominique , Belcram Harry , Falentin Cyril , Rouault Patricia , Piel Nathalie , Lucas Marie-Odile , Just Jérémy , Renard Michel , Delourme Régine , Chalhoub Boulos
Published: January 2013

In the allopolyploid Brassica napus, we obtained a petal-closed flower mutation by ethyl methanesulfonate mutagenesis. Here, we report cloning and characterization of the Bn-CLG1A (CLG for cleistogamy) gene and the Bn-clg1A-1D mutant allele responsible for the cleistogamy phenotype. Bn-CLG1A encodes a RINGv E3 ubiquitin ligase that is highly conserved across eukaryotes. In the Bn-clg1A-1D mutant allele, a C-to-T transition converts a Pro at position 325 to a Leu (P325L), causing a dominant mutation leading to cleistogamy. B. napus and Arabidopsis thaliana plants transformed with a Bn-clg1A-1D allele show cleistogamous flowers, and characterization of these flowers suggests that the Bn-clg1A-1D mutation causes a pronounced negative regulation of cutin biosynthesis or loading and affects elongation or differentiation of petal and sepal cells. This results in an inhibition or a delay of petal development, leading to folded petals. A homoeologous gene (Bn-CLG1C), which shows 99.5% amino acid identity and is also constitutively and equally expressed to the wild-type Bn-CLG1A gene, was also identified. We showed that P325L is not a loss-of-function mutation and did not affect expression of Bn-clg1A-1D or Bn-CLG1C. Our findings suggest that P325L is a gain-of-function semidominant mutation, which led to either hyper- or neofunctionalization of a redundant homoeologous gene.
GWAPP: A Web Application for Genome-Wide Association Mapping in Arabidopsis
Authors: Seren Ümit , Vilhjálmsson Bjarni J. , Horton Matthew W. , Meng Dazhe , Forai Petar , Huang Yu S. , Long Quan , Segura Vincent , Nordborg Magnus
Published: January 2013

Arabidopsis  thaliana is an important model organism for understanding the genetics and molecular biology of plants. Its highly selfing nature, small size, short generation time, small genome size, and wide geographic distribution make it an ideal model organism for understanding natural variation. Genome-wide association studies (GWAS) have proven a useful technique for identifying genetic loci responsible for natural variation in A. thaliana. Previously genotyped accessions (natural inbred lines) can be grown in replicate under different conditions and phenotyped for different traits. These important features greatly simplify association mapping of traits and allow for systematic dissection of the genetics of natural variation by the entire A. thaliana community. To facilitate this, we present GWAPP, an interactive Web-based application for conducting GWAS in A. thaliana. Using an efficient implementation of a linear mixed model, traits measured for a subset of 1386 publicly available ecotypes can be uploaded and mapped with a mixed model and other methods in just a couple of minutes. GWAPP features an extensive, interactive, and user-friendly interface that includes interactive Manhattan plots and linkage disequilibrium plots. It also facilitates exploratory data analysis by implementing features such as the inclusion of candidate polymorphisms in the model as cofactors.
Associations of acanthosis nigricans with metabolic abnormalities in polycystic ovary syndrome women with normal body mass index
Authors: Dong Zhe , Huang Jia , Huang Lili , Chen Xiaoli , Yin Qianqian , Yang Dongzi
Published: January 2013

Acanthosis nigricans (AN) usually correlates to insulin resistance (IR) or obesity in obese populations, but adequate studies on the significance of AN in people with normal body mass index (BMI) have not been performed and discussed. Three hundred and thirty‐nine polycystic ovary syndrome (PCOS) patients with normal BMI (<23 kg/m2) were recruited. The anthropometric and biochemical parameters of these patients were measured. In these patients with normal BMI, 33 (9.7%) women had AN, and six (1.77%) women were diagnosed with metabolic syndrome. Most of the anthropometric and biochemical variables associated with metabolic status were more unfavorable in the AN‐positive group compared with the AN‐negative groups. The prevalence of central obesity, IR and reduced high‐density lipoprotein cholesterol (HDL‐C) level were also significantly higher in the AN‐positive group (P < 0.05). In multiple regression analysis, presence of AN was still significantly associated with IR (odds ratio [OR] = 2.952, 95% confidence intervals [CI] = 1.367–6.376] and reduced HDL‐C level (OR = 2.668, 95% CI = 1.160–6.135) after adjustments for age and BMI. Sensitivity, specificity, and positive and negative predictive values for AN to detect IR were 18.6%, 92.6%, 39.4% and 81.4%, respectively. In conclusion, presence of AN correlated with IR and reduced HDL‐C level in PCOS women with normal BMI. AN status had high specificity to detect IR, but lack of sensitivity.
Student teachers' attitudes and beliefs towards using ICT within inclusive education and practice
Authors: Beacham Nigel , McIntosh Kenny
Published: January 2013

The areas of education inclusion and digital inclusion have recently received growing interest from the research community while addressing the wider concern of social inclusion, but little research has been carried out exploring the relationship between the two areas. Central to both areas, this paper presents a study that investigated student teachers' attitudes towards using Information and Communication Technology (ICT) for equality as part of inclusive education and practice, and explored the extent to which it is important that student teachers are prepared for both education and digital inclusion. The study focused on the attitudes of student teachers who had taken a new reformed course on inclusive education and practice within a Scottish University. Results from the study showed that student teachers' attitudes towards using ICT for teaching and learning were strongly positive, and were also strongly positive towards inclusive education. Their attitudes towards inclusive practice and using ICT for inclusive practice were slightly less positive. This seemed to result in ICT being used less in terms of inclusive education and more from the perspective of accessibility to the curriculum. The study provided evidence that the impact of ICT as part of inclusive practice is not well understood by student teachers and that student teachers' attitudes towards digital equality do not feature highly in inclusive practices. Consequently, greater attention to ways in which ICT is used for inclusive purposes is needed in Initial Teacher Education and in education policies in order to improve student teachers' preparedness for education inclusion.
Developmental‐ and food‐dependent foraging transcript levels in the desert locust
Authors: Tobback Julie , Verlinden Heleen , Vuerinckx Kristel , Vleugels Rut , Vanden Broeck Jozef , Huybrechts Roger
Published: January 2013

Drastic changes in the environment during a lifetime require developmental and physiological flexibility to ensure animal survival. Desert locusts, Schistocerca gregaria, live in an extremely changeable environment, which alternates between periods of rainfall and abundant food and periods of drought and starvation. In order to survive, locusts display an extreme form of phenotypic plasticity that allows them to rapidly cope with these changing conditions by converting from a cryptic solitarious phase to a swarming, voracious gregarious phase. To accomplish this, locusts possess different conserved mediators of phenotypic plasticity. Recently, attention has been drawn to the possible roles of protein kinases in this process. In addition to cyclic AMP‐dependent protein kinase (PKA), also cyclic GMP‐dependent protein kinase (PKG), which was shown to be involved in changes of food‐related behavior in a variety of insects, has been associated with locust phenotypic plasticity. In this article, we study the transcript levels of the S. gregaria orthologue of the foraging gene that encodes a PKG in different food‐related, developmental and crowding conditions. Transcript levels of the S. gregaria foraging orthologue are highest in different parts of the gut and differ between isolated and crowd‐reared locusts. They change when the availability of food is altered, display a distinct pattern with higher levels after a moult and decrease with age during postembryonic development.
Multidisciplinary osteoporosis management of post low‐energy trauma hip‐fracture patients
Authors: Skorupski Nicole , Alexander Ivy M.
Published: January 2013

Purpose

The purpose of this article is to increase awareness of osteoporosis incidence in patients with hip fracture among providers and allied health professionals, to increase osteoporosis recognition and treatment in post hip‐fracture patients, and to provide guidance on how to improve continuity of care and collaboration between members of the multidisciplinary healthcare team.

Data sources

Recent evidence from the literature is reviewed to identify effective management strategies for post low‐energy trauma hip‐fracture patients and prevention of future osteoporotic fracture, regardless of osteoporosis diagnosis prior to the initial fracture.

Conclusions

Despite the availability of accurate screening technologies and highly efficacious antiosteoporosis medications, implementation of these measures for low‐energy trauma hip‐fracture patients remains critically low. This is because of a number of factors including hesitancy to integrate care across specialty lines, lack of reliable referral systems, and resistance to change. There is also a lack of recognition of the connection between low‐energy trauma hip fracture and osteoporosis by many healthcare professionals.

Implications for practice

All members of the multidisciplinary care team are called to action to adopt osteoporosis evaluation and treatment strategies that research has shown to be effective on a larger scale in the post hip‐fracture setting.
A prospective longitudinal study on rotation thromboelastometry in women with uncomplicated pregnancies and postpartum
Authors: van Rheenen‐Flach Leonie E. , Zweegman Sonja , Boersma Fleur , Lenglet Joris E. , Twisk Jos W. R. , Bolte Antoinette C.
Published: January 2013

Background

Rotation thromboelastometry (ROTEM) is an easy, fast and complete method of measuring coagulation.

Aims

Our goal was to obtain longitudinal values on ROTEM in uncomplicated pregnancies and in the puerperium.

Materials and Methods

Healthy women, who visited our outpatient clinic for antenatal checks and who accomplished an uncomplicated pregnancy were tested three times during pregnancy and one time postpartum. Intrinsic and extrinsic pathway tests were carried out.

Results

In total, 62 women were analysed, and 298 measurements were taken. With increasing gestational age, there are significant changes towards hypercoagulability.

Conclusion

This study provides a better knowledge about physiological changes in ROTEM measurements during pregnancy. These normative data may serve as assistance for future studies and interventions.
Enlargement of the levator hiatus in female pelvic organ prolapse: Cause or effect?
Authors: Andrew Bronwyn P. , Shek Ka L. , Chantarasorn Varisara , Dietz Hans P.
Published: January 2013

Aim

This study was undertaken to investigate whether female pelvic organ prolapse repair changes levator hiatal biometry.

Methods

Retrospective analysis of clinical and translabial ultrasound volume data of women who underwent prolapse surgery at a tertiary urogynaecological unit between March 2005 and April 2009. Data sets of 81 women were analysed who had undergone an interview, clinical assessment using POP‐Q staging and 3D translabial ultrasound before and after prolapse surgery. Imaging data were obtained preoperatively and 3–12 months postoperatively to determine potential changes in levator hiatal dimensions. Type of surgery, mesh use, symptoms of recurrent prolapse, age, significant recurrent prolapse and length of follow‐up were tested in linear regression as potential confounders.

Results

The mean preoperative hiatal area on Valsalva was 31.9 cm2 (range 13.5–58.1 cm2, SD 10.0 cm2). Mean postoperative hiatal area on Valsalva was 28.9 cm2 (range 13.9–47.4 cm2; SD 7.3 cm2), which implies a significant reduction of 9% (P = 0.001). None of the tested potential confounders were found to be significantly associated with a perioperative change in hiatal area on Valsalva on linear regression analysis.

Conclusions

Surgery for female pelvic organ prolapse is associated with a small but significant reduction in hiatal area, but abnormal hiatal distensibility persists in most cases. This suggests that excessive hiatal distensibility is more likely the cause rather than the effect of prolapse.
Comparison of 23‐gauge sutureless sclerotomy architecture and clinical outcomes in macular and non‐macular surgery using spectral‐domain optical coherence tomography
Authors: Tahiri Joutei Hassani Rachid , El Sanharawi Mohamed , Adam Raphael , Monin Claire , Dupont‐Monod Sylvère , Baudouin Christophe
Published: January 2013

Purpose:  To compare the 23‐gauge (23‐G) sutureless vitrectomy incision architecture in macular and non‐macular surgery, using anterior segment spectral‐domain optical coherence tomography (SD‐OCT), and to evaluated its influence on clinical outcomes.

Methods:  A prospective, observational case series of 43 patients who underwent primary transconjunctival 23‐G pars plana vitrectomy (PPV) for macular and non‐macular diseases. All sclerotomy wounds were imaged 1 day after surgery using the anterior segment module of SD‐OCT (OCT Spectralis; Heidelberg Engineering, Heidelberg, Germany). Sclerotomy architecture, including good wound apposition, presence of gaping and misalignment of the roof and floor of the incisions were evaluated. Preoperative, intraoperative and postoperative medical record data were also prospectively collected.

Results:  Incision gaping and misalignment of the roof and floor occurred more frequently in the superotemporal and superonasal quadrants than in the inferotemporal quadrant (p < 0.05) and was more frequent in the non‐macular group than in the macular group (p < 0.05). The incidence of incision gaping increased significantly as the incision angle increased. In the macular group, the mean postoperative intraocular pressure (IOP) did not change from the preoperative value, whereas in the non‐macular group, the mean IOP decreased significantly from 15.09 ± 2.58 mmHg preoperatively to 12.18 ± 3.25 mmHg on the first postoperative day (p < 0.005). The mean IOP did not differ significantly between the two groups of surgery at 1 week, and at 1 month postoperatively.

Conclusions:  In 23‐G PPV, non‐macular surgery is associated with a significant postoperative IOP decrease in comparison with macular surgery, which could be explained by the most remodelled wound architecture.
Understanding the impact of uveitis on health‐related quality of life in adolescents
Authors: Maca Saskia M. , Amirian Arsine , Prause Carolin , Gruber Kathrin , Mejdoubi Lamiss , Barisani‐Asenbauer Talin
Published: January 2013

Purpose:  A reduction in quality of life (QoL) during an active phase of disease has been shown for patients with uveitis of various age groups. Adult uveitis patients were shown to also have reduced QoL‐values despite disease being quiescent, but adolescents have not been investigated in this respect.

Methods:  This clinic‐based, cross‐sectional pilot study assessed the overall health‐related quality of life (HRQoL) in adolescents (11–18 years) with a history of inactive uveitis and good visual function. Two independent generic (non‐disease‐specific) instruments were applied, the Inventory for Assessing the Quality of Life and the German KINDL‐R‐questionnaire.

Results:  Thirty‐seven adolescents, 20 females (54%) and 17 males with a mean age of 15 ± 3 years and diagnosis since 5 ± 2 years participated. Subgroups with a reduced HRQoL were those with anterior and intermediate localization of uveitis, bilateral disease, application of immunosuppressive therapy, a short time since diagnosis, and a high number of recurrences.

Conclusion:  Even despite quiescence of disease and good visual function, certain risk factors may result in a decreased HRQoL in juvenile uveitis patients. Our findings support the need of further evaluation of HRQoL in this patient group, the validation of specific psychometric inventories for this disease and the establishment of interdisciplinary collaboration including psychological counselling.
Late in‐the‐bag intraocular lens dislocation in eyes with pseudoexfoliation syndrome
Authors: Østern Atle Einar , Sandvik Gunhild Falleth , Drolsum Liv
Published: January 2013

Purpose:  To assess preoperative features, frequency, surgical approaches and outcomes of late in‐the‐bag dislocation of posterior chamber intraocular lenses (IOLs) in eyes with pseudoexfoliation syndrome.

Methods:  Seventy‐seven patients (81 eyes) were enrolled. Inclusion criteria were patients with pre‐existing pseudoexfoliation syndrome who underwent surgery for late in‐the‐bag IOL dislocation between March 2004 and April 2010. Medical records were reviewed. Data from before and after secondary surgery were analysed.

Results:  Mean time between cataract extraction and secondary surgery for late in‐the‐bag dislocation of posterior chamber IOLs was 8.5 years. The increase in frequency within the reviewed period was statistically significant, ranging from six patients in the first year to 25 patients in the final year (p = 0.004). When surgical correction was performed within 1 month of referral, deterioration of the dislocation occurred in only one of 23 patients (4.3%). Complications, especially vitreous loss, occurred significantly more frequently during exchange surgery (n = 23) when compared with scleral suturing (n = 50) (p < 0.0001). After surgery, however, no differences in complications (p = 0.98) or best‐corrected visual acuity (p = 0.74) was found. In general, following secondary surgery, there was a statistically significant improvement in best‐corrected visual acuity (p < 0.0001).

Conclusion:  The frequency of late in‐the‐bag dislocation of posterior chamber IOLs in eyes with pseudoexfoliation syndrome increased during the observation period. Our study suggests that surgical repair should not be delayed beyond 1 month and that scleral suturing is preferable to exchange surgery, because of less intraoperative complications.
Positioning of the posterior intraocular lens in the longer term following cataract surgery in eyes with and without pseudoexfoliation syndrome
Authors: Østern Atle Einar , Sandvik Gunhild Falleth , Drolsum Liv
Published: January 2013

Purpose:  To assess long‐term positioning of posterior chamber intraocular lenses within the capsular bag in eyes with pseudoexfoliation syndrome.

Methods:  The study includes 44 patients with pseudoexfoliation syndrome and 85 age‐matched controls, who underwent cataract surgery in 2001 and 2002 at the Eye Department, Oslo University Hospital. In 2008, all patients were re‐examined. A comparison of the extent of possible decentration in eyes with and without pseudoexfoliation syndrome was made by evaluating Scheimpflug images (Pentacam) of the anterior segment.

Results:  It was found that, 6–7 years following cataract surgery, posterior chamber intraocular lenses were positioned lower in eyes with pseudoexfoliation syndrome than in control eyes. The difference was statistically significant (p = 0.01). Downward shift was associated with presence of glaucoma only in eyes with pseudoexfoliation syndrome (p = 0.01). No patients had visual disturbances related to displacement of the intraocular lens. Three of the patients with pseudoexfoliation syndrome (6.8%) had observable pseudophacodonesis by slit‐lamp examination, compared to one in the control group (1.2%). The study demonstrated that Pentacam is an appropriate instrument to measure decentration of intraocular lenses.

Conclusion:  The study suggests that, 6–7 years after cataract surgery, the intraocular lenses within the capsular bag are more prone to decentration in pseudoexfoliation syndrome eyes, compared to controls.
Economic considerations related to choice of intraocular lens (IOL) and posterior capsule opacification frequency – a comparison of three different IOLs
Authors: Cullin Felix , Busch Tobias , Lundström Mats
Published: January 2013

Purpose:  To evaluate the posterior capsule opacification (PCO) rates in three different modern standard intraocular lenses (IOL) and analyse the related cost.

Methods:  Retrospective study of medical records from 1527 patients who underwent uneventful cataract surgery by phacoemulsification with posterior chamber implantation of either AcrySof SN60 (n = 375), Akreos Adapt (n = 350) or Tecnis Acryl IOL (n = 801). All surgeries were performed by the same surgeon using the same surgical technique and equipment. Primary end‐point was neodymium:yttrium‐aluminium‐garnet (Nd:YAG) capsulotomy for visual impairment secondary to PCO. Cost of IOL material and Nd:YAG capsulotomy for PCO was then evaluated and compared between the IOLs.

Results:  Mean follow‐up was 41.5 months, and the only statistically significant variable of developing PCO was IOL type and individual follow‐up time. Nd:YAG capsulotomy was performed in 7.47% in the AcrySof group, 17.71% in the Akreos group and 3.75% in the Tecnis group. Average cost for Nd:YAG capsulotomy per surgery was €18.75 in the AcrySof SN60 group, €44.25 in the Akreos Adapt group and €9.25 in the Tecnis Acryl group. The combined cost of cataract surgery and PCO treatment was €9.81 higher in for the Akreos Adapt group than the other two combined.

Conclusions:  This retrospective study shows that the risk of PCO and Nd:YAG capsulotomy is significantly higher in hydrophilic Akreos IOL compared with both AcrySof and Tecnis hydrophobic IOLs. The increased risk of PCO in the hydrophilic IOL is related to higher total average costs for cataract surgery.
Pain in thalassaemia: the effects of age on pain frequency and severity
Authors: Haines Dru , Martin Marie , Carson Susan , Oliveros Olivia , Green Sage , Coates Thomas , Eile Jennifer , Schilling Leann , Dinu Bogan , Mendoza Tito , Gerstenberger Eric , Trachtenberg Felicia , Vichinsky Elliott ,   for The Thalassemia Clinical Research Network
Published: January 2013

Pain is not a symptom generally associated with thalassaemia. However, providers have noted increasing patient reports of pain, creating an impetus for this prospective, observational assessment of pain in thalassaemia patients. The primary study goals were to assess pain prevalence, severity, location, and potential risk factors. This was a multicentre, prospective study of thalassaemia patients receiving care at 12 Thalassaemia Clinical Research Network sites. Pain was assessed using the Brief Pain Inventory. Two hundred and fifty‐two thalassaemia patients ranging in age from 12 to 71 years (mean 28·8) were enrolled. Sixty‐four per cent reported experiencing pain during the last 4 weeks, 22% of whom reported pain on a daily basis. Ordinal regression analysis of pain ratings demonstrated significant (P < 0·001) correlation of increased age with increased pain, irrespective of diagnosis, transfusion status, gender, bone density, chelator type or iron overload. Eighty‐one per cent reported having pain for 1 year or longer and 31% reported pain for five or more years. Pain is a major cause of morbidity and an unrecognized problem for patients with thalassaemia. Age is the strongest predictor of frequency and severity. Little else is known about the aetiology and predictors of this pain syndrome.
Anna's story of life in prison
Authors: Boodle Anna , Ellem Kathy , Chenoweth Lesley
Published: January 2013

Accessible summary

This is the story ofAnnaBoodle. Anna told her story toKathyEllem about her time in prisons inQueensland,Australia.

Anna has an intellectual disability. Living in prison was very hard for her.

Anna has survived prison and now has a good life in the community.

Anna wants to tell other people they can survive prison and have a good life.

People with an intellectual disability in prison can be at increased risk of victimisation, segregation and isolation (Mullen). Prison systems usually have very few resources to cater to this group's particular needs, and many people may re‐enter the community with little or no rehabilitation, poor social connections, poor mental health and little chance in finding employment and living a crime‐free life (Baldryet al.). Gathering the lived expertise of ex‐prisoners with an intellectual disability can help others to better understand these experiences. This article is aboutAnnaBoodle's story of imprisonment inQueensland,Australia. Anna participated in a largerPhDstudy on the life stories of ex‐prisoners with an intellectual disability. It is apparent from her story, and the other stories in the study, that there is a need for more humane responses to people with an intellectual disability who offend. Anna's story is a tale of hope to others that a good life is possible after imprisonment.
Low normal free T4 confers decreased high‐density lipoprotein antioxidative functionality in the context of hyperglycaemia
Authors: Triolo Michela , de Boer Jan Freark , Annema Wijtske , Kwakernaak Arjan J. , Tietge Uwe J. F. , Dullaart Robin P. F.
Published: January 2013

Objectives

Low normal thyroid function may promote the development of atherosclerotic cardiovascular disease by thus far poorly defined mechanisms. We tested the impact of thyroid function on HDL antioxidative capacity, a metric of its antiatherogenic functionality, in euthyroid subjects with varying degrees of glucose tolerance.

Design and Subjects

Seventy subjects with Type 2 diabetes mellitus (T2DM), 37 subjects with impaired fasting glucose (IFG) and 31 subjects with normal fasting glucose (NFG) (revised NCEP‐ATPIII criteria) participated in a cross‐sectional study.

Measurements

HDL antioxidative capacity (standardized for HDL cholesterol) was measured as the percentage inhibition of low‐density lipoprotein oxidation in vitro.

Results

TSH, free T4 and HDL antioxidative capacity were not different among NFG, IFG and T2DM subjects (P > 0·25 for each). HDL antioxidative capacity was correlated positively with free T4 (r = 0·320, P = 0·007), and negatively with plasma glucose (r = −0·394, P < 0·001) in T2DM only. Taking account of age and sex, the relationship of HDL antioxidative functionality with free T4 was modified by glucose tolerance status (P = 0·040 and P = 0·008 for interactions of IFG and T2DM with free T4 respectively). Prevailing plasma glucose also interacted positively with free T4 on HDL antioxidative capacity (P = 0·054).

Conclusions

In the context of chronic hyperglycaemia, low free T4 within the euthyroid range confers diminished HDL antioxidative capacity, a pathophysiologically relevant metric of HDL functionality.
KCNT1 mutations in ADNFLE and MMPSI: a new driver in the etiology and pathophysiology of early‐onset epileptic syndromes
Authors: Aminkeng F
Published: January 2013

Missense mutations in the sodium‐gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Heron et al. (2012)

Nature Genetics 44(11): 1188–1190.

De novo gain‐of‐function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Barcia et al. (2012)

Nature Genetics 44(11): 1255–1259.
Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran
Authors: Khademian H , Mehravar E , Urtizberea JA , Sagoo S , Sandoval L , Carbajo R , Darvish B , Valles‐Ayoub Y , Darvish D
Published: January 2013

GNE myopathy or hereditary inclusion body myopathy (HIBM) is an ultra‐rare severely disabling autosomal recessive adult onset muscle disease which affects roughly one to three individuals per million worldwide. Genetically, HIBM is caused by mutations in the glucosamine (UDP‐N‐acetyl)‐2‐epimerase/N‐acetylmannosamine kinase gene (GNE), resulting in diminished enzyme function and reduced sialic acid biosynthesis. A founder variant GNE p.M712T was first described in patients of Iranian and Middle‐Eastern descent living outside of Iran. Asymptomatic heterozygote or carrier frequency has been reported as high as 1 in 11 within the Persian‐Jewish community residing in Los Angeles, CA. To investigate the prevalence of the p.M712T variant in Iran, we studied 792 samples collected from random individuals in Sangesar (Mahdishahr) in Northern Iran. DNA samples were obtained by buccal swab, and genotyping was performed by melting curve analysis. The results included 31 of 792 (3.91%) heterozygous carriers and 5 (0.31%) homozygotes for GNE p.M712T. All five homozygous individuals, age 30–64 years, were already symptomatic at the start of the study. Our findings suggest that the prevalence of GNE p.M712T is higher in the Sangesar population, comprised mostly of Muslim and Bahai descendants, compared with the general world population. Additional HIBM distribution studies are warranted within various subpopulations of Iran.
The vulnerability of Amazon freshwater ecosystems
Authors: Castello Leandro , McGrath David G. , Hess Laura L. , Coe Michael T. , Lefebvre Paul A. , Petry Paulo , Macedo Marcia N. , Renó Vivian F. , Arantes Caroline C.
Published: January 2013

The hydrological connectivity of freshwater ecosystems in the Amazon basin makes them highly sensitive to a broad range of anthropogenic activities occurring in aquatic and terrestrial systems at local and distant locations. Amazon freshwater ecosystems are suffering escalating impacts caused by expansions in deforestation, pollution, construction of dams and waterways, and overharvesting of animal and plant species. The natural functions of these ecosystems are changing, and their capacity to provide historically important goods and services is declining. Existing management policies—including national water resources legislation, community‐based natural resource management schemes, and the protected area network that now epitomizes the Amazon conservation paradigm—cannot adequately curb most impacts. Such management strategies are intended to conserve terrestrial ecosystems, have design and implementation deficiencies, or fail to account for the hydrologic connectivity of freshwater ecosystems. There is an urgent need to shift the Amazon conservation paradigm, broadening its current forest‐centric focus to encompass the freshwater ecosystems that are vital components of the basin. This is possible by developing a river catchment‐based conservation framework for the whole basin that protects both aquatic and terrestrial ecosystems.
Rhinovirus and other respiratory viruses exert different effects on lung allograft function that are not mediated through acute rejection
Authors: Sayah David M. , Koff Jonathan L. , Leard Lorriana E. , Hays Steven R. , Golden Jeffrey A. , Singer Jonathan P.
Published: January 2013

Background

Community acquired respiratory virus (CARV) infections in lung transplant recipients (LTR) have been associated with adverse outcomes, including acute rejection (AR) and decline in allograft function, in some but not in all studies.

Methods

Spirometry and transbronchial biopsy results of LTR diagnosed with CARV infection over a two‐yr period were extracted from clinical records. Primary outcomes, studied at 1–2.5 months postinfection, were as follows: (i) incidence of biopsy‐proven AR (grade >A0) and (ii) allograft function, defined by forced expiratory volume in one s (FEV1). A reference group of biopsies (n = 526) collected during the study period established the baseline incidence of AR. Rhinovirus (RV) and non‐rhinovirus (non‐RV) infections were analyzed as subgroups.

Results

Eighty‐seven cases of CARV infection were identified in 59 subjects. Incidences of AR were similar in the post‐CARV and reference groups and did not differ significantly after RV vs. non‐RV infection. Allograft function declined significantly after non‐RV infection, but not after RV infection.

Conclusions

In LTR, CARV infections other than RV are associated with allograft dysfunction at 1–2.5 months after infection. However, CARVs do not appear associated with AR at this time point. The impact of specific CARVs on lung allografts, including the development of chronic allograft rejection, merits further study.
The different etiology of fulminant hepatic failure (FHF) in Korea and prognostic factors in patients undergoing liver transplantation for FHF
Authors: Kim Tae‐Seok , Joh Jae‐Won , Moon Hyunghwan , Lee Sanghoon , Song Sang Hyun , Shin Milljae , Kim Jong Man , Kwon Choon Hyuck David , Kim Sung‐Joo , Lee Suk‐Koo
Published: January 2013

Background

The prognosis of fulminant hepatic failure (FHF) depends on the etiology and reversibility. In this study, we identified the etiological difference of FHF in Korea and analyzed the prognostic factors after liver transplantation (LT) for FHF.

Methods

We retrospectively reviewed 42 patients with FHF who underwent LT from April 1999 to April 2011 at Samsung Medical Center, Seoul, Korea. The patients were categorized into two groups according to the short‐term result of LT, and perioperative profiles were compared to identify the short‐term poor prognostic factors.

Results

Unlike Western countries, there was no paracetamol‐related FHF but herbal/folk medicines were the most frequent causes of FHF (26.2%). HAV‐related FHF increased significantly and comprised the main portion of FHF with Herbal/folk medicines after 2005. Encephalopathy grade, onset time, pre‐transplantation need of renal replacement, and ventilator treatment were significantly different between groups in univariate analysis. In multivariate analysis, pre‐transplantation renal replacement treatment and hepatic encephalopathy grade IV were the independent prognostic factors after LT.

Conclusions

The etiologies of FHF in Korea were different compared with Western reports. The requirement of renal replacement treatment and hepatic encephalopathy grade IV were identified as independent poor prognostic factors after LT for FHF in this study.
Impact of locoregional therapy and alpha‐fetoprotein on outcomes in transplantation for liver cancer: a UNOS Region 6 pooled analysis
Authors: Wong Linda L. , Naugler Willscott E. , Schwartz Jonathan , Scott David L. , Bhattacharya Renuka , Reyes Jorge , Orloff Susan L.
Published: January 2013

Liver transplantation (LT) provides optimal long‐term disease‐free survival for hepatocellular carcinoma (HCC). High pre‐LT alpha‐fetoprotein (AFP) has been associated with HCC recurrence, but it is unclear whether a drop in AFP or locoregional therapy impacts survival/recurrence after LT. LT‐recipients transplanted for HCC in three centers (UNOS Region 6) were reviewed (2006–2009) for demographics, tumor characteristics, locoregional therapy, AFP, recurrence, and survival. Among 211 LT recipients (mean age 56.4 yr, 83% male, mean MELD 12.2), 94% met Milan criteria and 61% received locoregional therapy. Mean disease‐free survival (DFS) was 1549.7 d, and 84% are currently alive. Factors affecting DFS included recurrence (RR, 0.074; 95% CI, 0.038–0.14), normal peak AFP (29.6, 95% CI, 2.96–296.3), peak AFP >400 (RR, 0.15; 95% CI, 0.03–0.73) and AFP at LT >400 (RR, 15.5; 95% CI, 2.4–100.5). Twenty‐one patients had recurrence and were more likely beyond Milan criteria (5/23(21%) vs. 8/220 (4%), p = 0.0038), with peak AFP >400 and AFP at LT >400 (p = 0.001). Locoregional therapy did not affect mean DFS (1458.0 vs. 1603.8 d, p = 0.05) or recurrence (12.5% vs. 6%). Predictors of recurrence were similar to previous studies, including high AFP and tumor outside Milan criteria. While locoregional therapy itself did not affect DFS/recurrence, a decrease in AFP pre‐transplant appears to positively influence outcomes in those who received locoregional therapy.
The relationship of socio‐demographic factors and satisfaction with social support at five and 10 yr after heart transplantation
Authors: White‐Williams Connie , Grady Kathleen L. , Naftel David C. , Myers Susan , Wang Edward , Rybarczyk Bruce
Published: January 2013

Background

Despite the fact that social support has been found to be important to cardiovascular health, there is a paucity of information regarding the relationship between social support and outcomes long term after heart transplantation (HT). The purposes of this study were to examine demographic and psychosocial characteristics and their relationship to social support after HT and to identify whether socio‐demographic variables are predictors of satisfaction with social support post‐HT.

Methods

Data were collected from 555 HT patients (pts) (78% men, 88% white, mean age = 53.8 yr at time of transplant) at four US medical centers using the following instruments: Social Support Index, QOL Index, HT Stressor Scale, Jalowiec Coping Scale, Sickness Impact Profile, Cardiac Depression Scale, and medical records review. Statistical analyses included t‐tests, correlations, and linear and multivariate regression.

Results

There were no associations between education and ethnicity and perception of social support at five and 10 yr after HT. Married and older pts reported higher satisfaction with social support after HT. Being married and having higher education were predictors of better overall satisfaction with social support at 10 yr post‐heart transplantation.

Conclusions

Knowledge of relationships between socio‐demographic factors and social support may assist clinicians to address social support needs and resources long term after HT.
Attitudes of Islamic religious officials toward organ transplant and donation
Authors: Uskun Ersin , Ozturk Mustafa
Published: January 2013

Background

The decision to donate organs is an essential step in the process prior to transplantation. Religious leaders play an important role in decision‐making in Islamic countries. The aim of this study is to reveal the attitudes of Islamic religious officials toward organ donation and transplantation.

Methods

The study group for this cross‐sectional research consisted of 165 religious people. A questionnaire was provided to the study group, asking about socio‐demographic features, behaviors, and attitudes toward organ donation.

Results

Most of the religious leaders who responded (71.5%) believe that donation is appropriate according to Islamic beliefs. Only 51.5% of those surveyed indicated a willingness to donate, however. Only three of the officials had donor cards. More than half (57.6%) declared that people had asked them for advice and opinions on organ donation. Among the religious officials, 32.7% said that they do not have enough knowledge about organ donation.

Conclusion

The findings indicate that consultation with a religious leader on organ donation is an important source of information for the community, providing an opportunity to improve the current organ donation rates. This study indicates that education, especially directed toward religious leaders, to improve organ and tissue donation and transplantation would help to improve those rates.
Equestrian chilblain: another outdoor recreational hazard
Authors: Yang Amy Y. , Schwartz Laurel , Divers Allison K. , Sternberg Lauren , Lee Jason B.
Published: January 2013

Herein, we describe two cases and review 14 cases of equestrian chilblain or ‘equestrian cold panniculitis’ in the literature. The first, a 23‐year‐old healthy female horse trainer, presented with burning nodular swelling on her lateral thighs. The second was a 34‐year‐old healthy woman with recurrent nodular eruption on the lateral thighs after horseback riding in the winter. Physical examination of both patients revealed erythematous to violaceous nodules with eczema craquelé‐like changes. Laboratory workup for systemic and autoimmune connective tissue disease was negative. Punch biopsies from both patients showed a superficial and deep perivascular and periadnexal lymphocytic infiltrate with focal extension into the subcutaneous fat. Parakeratosis, subtle spongiosis and increased pandermal interstitial mucin were also present. Previously reported cases generally showed a similar clinical course and similar histopathologic findings. In contrast, our cases revealed increased pandermal interstitial mucin, resembling tumid lupus erythematosus. We aim to better characterize the histopathologic findings of equestrian chilblain and discuss its relationship to other cold‐induced skin injuries and autoimmune connective tissue disease, namely lupus erythematosus.
Fine‐scale population genetic structure in a wide‐ranging carnivore, the leopard (Panthera pardus fusca)in centralIndia
Authors: Dutta Trishna , Sharma Sandeep , Maldonado Jesús E. , Wood Thomas C. , Panwar H. S. , Seidensticker John
Published: January 2013

Aim

Habitat loss and fragmentation can influence the genetic structure of biological populations. Large terrestrial predators can often avoid genetic subdivision due to fragmentation because they have high rates of dispersal‐mediated gene flow. Leopards (Panthera pardus) are found in a variety of habitats and are the most widely distributed of the large and middle‐sized felids. We investigated the genetic diversity and population substructure of leopards (P.p fusca) in a fragmented meta‐population comprised of four populations from five protected areas and inter‐connecting corridors spread over an area of 45,000 km2in central India.

Location

Kanha,Pench,Satpura andMelghatTigerReserves, and interconnecting corridors in theSatpura‐MaikalLandscape ofCentralIndia.

Methods

We collected faecal samples and used genetic methods to identify individuals, estimate the genetic variation and evaluate the patterns of genetic substructuring within this meta‐population of leopards.

Results

We identified 217 individual leopards using a panel of seven microsatellite loci. Leopards showed high levels of genetic diversity in all sampled populations. Spatial and non‐spatialBayesian analysis revealed at least two admixed genetic populations with indications of ongoing genetic subdivision. Genetic differentiation between populations was not explained by geographic distance. We identified nine individuals as migrants, most of which were assigned to reserves connected by corridors.

Main conclusions

Our study demonstrates that the leopard, an adaptable and vagile species, can become genetically differentiated with increased habitat fragmentation. Contrary to our hypothesis of panmixia, our results indicate that although leopards in this landscape are admixed, there is genetic substructuring at both the landscape and the fine‐scale level. We conclude that this is due to habitat fragmentation and corridors are of immense value in maintaining genetic connectivity in this landscape.
Neuromotor development in children. Part 3: motor performance in 3‐ to 5‐year‐olds
Authors: KAKEBEEKE TANJA H , CAFLISCH JON , CHAOUCH AZIZ , ROUSSON VALENTIN , LARGO REMO H , JENNI OSKAR G
Published: January 2013

Aim  The aim of this cross‐sectional study was to provide normative data (ordinal scores and timed performances) for gross and fine motor tasks in typically developing children between 3 and 5 years of age using the Zurich Neuromotor Assessment (ZNA).

Method  Typically developing children (n=101; 48 males, 53 females) between 3 and 5 years of age were enrolled from day‐care centres in the greater Zurich area and tested using a modified version of the ZNA; the tests were recorded digitally on video. Intraobserver reliability was assessed on the videos of 20 children by one examiner. Interobserver reliability was assessed by two examiners. Test–retest reliability was performed on an additional 20 children. The modelling approach summarized the data with a linear age effect and an additive term for sex, while incorporating informative missing data in the normative values. Normative data for adaptive motor tasks, pure motor tasks, and static and dynamic balance were calculated with centile curves (for timed performance) and expected ordinal scores (for ordinal scales).

Results  Interobserver, intraobserver, and test–retest reliability of tasks were moderate to good. Nearly all tasks showed significant age effects, whereas sex was significant only for stringing beads and hopping on one leg.

Interpretation  These results indicate that timed performance and ordinal scales of neuromotor tasks can be reliably measured in preschool children and are characterized by developmental change and high interindividual variability.