Retrotransposons occur in extremely large numbers in many eukaryotic genomes. However, little is known of the factors which affect the distribution of close proximity elements. In this work we investigate the frequency of close facing retrotransposons in a plant species with extremely high numbers of retrotransposons.
View Article and Find Full Text PDFPhenocopies may confound the clinical diagnoses of hereditary disorders. We report phenocopies in Multiple Endocrine Neoplasia type 1 (MEN1), an autosomal dominant disorder, characterised by the combined occurrence of parathyroid, pituitary and pancreatic tumours. We studied 261 affected individuals from 74 families referred with a clinical diagnosis of MEN1 and sought inconsistencies between the mutational and clinical data.
View Article and Find Full Text PDFBackground: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease caused by ACTH resistance and leads to isolated glucocorticoid deficiency. Although FGD patients typically have normal mineralocorticoid secretion, subtle alterations in the renin-angiotensin-aldosterone axis have been reported in a subset of patients at presentation. Anecdotally, some patients with FGD have been initially diagnosed as having Addison's disease (AD), with implications for treatment and genetic counselling.
View Article and Find Full Text PDFContext: Despite much investigation, a substantial amount of the genetic susceptibility to autoimmune diseases remains unaccounted for. Recently, a single-nucleotide polymorphism (SNP) in the programmed death ligand 1 (PD-L1) gene has been associated with Graves' disease (GD) in a Japanese patient cohort. Our aim was to determine whether variants in PD-L1 are also associated with autoimmune Addison's disease (AAD) and to replicate the previous association in patients with GD from the United Kingdom.
View Article and Find Full Text PDFCannulated screws, along with guide wires, are typically used for surgical fracture treatment in cancellous bone. Breakage or bending deformation of the guide wire is a clinical concern. Mechanically superior guide wires made of Co-Cr alloys such as MP35N and L605 may reduce the occurrence of mechanical failures when used in combination with conventional (316L stainless steel) cannulated screws.
View Article and Find Full Text PDFPsychiatric treatment can enhance human morality. It can promote the emergence of moral motives and intentions, aid in the acquisition of skills essential to moral action, and help to develop the ability to apply moral understanding and skills in particular circumstances. Good psychiatric practice demands an honest appraisal of its moral dimension.
View Article and Find Full Text PDFEur Cell Mater
September 2009
Fractures of the tibia and femoral diaphysis are commonly repaired by intra-medullary (IM) nailing. Currently IM nails are available in either electropolished stainless steel (SS) or in Titanium-Aluminium-Niobium (TAN). After healing, removal of the nails still is common but removal of TAN IM nails often has complications whereas SS IM nails of the same design are less often associated with problems.
View Article and Find Full Text PDFClin Endocrinol (Oxf)
March 2010
Subclinical hyperthyroidism (SH) is defined by a low serum thyrotropin (TSH) concentration in the presence of normal levels of free thyroxine (FT4) and free triiodothyronine (FT3). However, it is helpful to distinguish between those with a detectable but low TSH value (in the 0.1-0.
View Article and Find Full Text PDFThyroid peroxidase (TPO) is the key enzyme in thyroid hormone production and a universal autoantigen in Graves' and other autoimmune thyroid diseases. We wished to explore the expression of TPO and whether it was affected by thionamide antithyroid drugs. We studied recombinant TPO, stably expressed by a Chinese hamster ovary cell line (CHO-TPO) and transiently expressed TPO-enhanced green fluorescent protein (eGFP) and -FLAG fusion proteins.
View Article and Find Full Text PDFMesenchymal stem cells (MSCs) represent an attractive cell population for the regeneration of mesenchymal tissues. Their special immunological characteristics suggest that MSCs could be used in nonautologous applications. In this study, the regenerative capacity of human and ovine MSCs was assessed in an ovine critical size defect model.
View Article and Find Full Text PDFEur J Oncol Nurs
July 2009
This paper outlines the current policy and service developments for the provision of cancer care for teenagers, young adults and their families in England. Key implications in terms of the settings and place of care, the centrality of the multidisciplinary team, the improvement of outcomes in TYA cancer care together with psychosocial issues are examined in more depth alongside the existing evidence base. In terms of the development of high quality, accessible specialist TYA cancer care and the development of a rigorous evidence base for the practice of TYA cancer care the next few years are crucial.
View Article and Find Full Text PDFThe start-up of the Large Hadron Collider (LHC) at CERN, Geneva, presents a huge challenge in processing and analysing the vast amounts of scientific data that will be produced. The architecture of the worldwide grid that will handle 15 PB of particle physics data annually from this machine is based on a hierarchical tiered structure. We describe the development of the UK component (GridPP) of this grid from a prototype system to a full exploitation grid for real data analysis.
View Article and Find Full Text PDFBackground: Thyroid hormone replacement is one of the most commonly prescribed and cost effective treatments for a chronic disease. There have been recent changes in community prescribing policies in many areas of the UK that have changed patient access to necessary medications. This study aimed to provide a picture of thyroid hormone usage in the UK and to survey patient opinion about current community prescribing policies for levothyroxine.
View Article and Find Full Text PDFObjective: To evaluate cardiopulmonary effects of anesthetic induction with diazepam and ketamine or xylazine and ketamine, with subsequent maintenance of anesthesia with isoflurane, in foals undergoing abdominal surgery.
Animals: 17 pony foals.
Procedures: Foals underwent laparotomy at 7 to 15 days of age and laparoscopy 7 to 10 days later.
Background: The Rourke Baby Record (RBR) - http://www.rourkebabyrecord.ca - is a freely available evidence-based structured form for child health surveillance from zero to five years.
View Article and Find Full Text PDFEndocrinol Metab Clin North Am
June 2009
The search for the susceptibility alleles for the complex genetic conditions of type 1 diabetes and autoimmune thyroid diseases has gained momentum in recent years. Studies have revealed several novel disease susceptibility alleles of relevance to both conditions, which brings the total number of genetic variants contributing to type 1 diabetes to ten. Additional genetic loci remain to be discovered, particularly in the autoimmune thyroid diseases.
View Article and Find Full Text PDFEndocrinol Metab Clin North Am
June 2009
Serotonin syndrome is a potentially life-threatening condition that results from excessive serotonin agonism of the central and peripheral nervous system. Though serotonin syndrome is most often associated with ingestion of more than one serotonergic drug, many other mechanisms have been associated with serotonergic excess. This case study presents a 79-year-old African-American female, an assisted living resident, who presented to the emergency department with altered mental status, acute onset of "chills," reduced appetite, urinary incontinence, and an elevated temperature of 103 degrees F (39.
View Article and Find Full Text PDFBackground: We report monozygotic twin girls with a family history consistent with X-linked hypophosphataemic rickets (XLH). One twin had a skeletal and biochemical phenotype consistent with XLH, whilst the second twin appeared normal. Complete non-penetrance in XLH has not been previously reported and our aim was to explore potential reasons for this.
View Article and Find Full Text PDFHuman papillomaviruses (HPVs) are DNA viruses associated with major human cancers. As such there is a strong interest in developing new means, such as vaccines and microbicides, to prevent HPV infections. Developing the latter requires a better understanding of the infectious life cycle of HPVs.
View Article and Find Full Text PDFBackground: One of the complications of forearm shaft fracture is refracture. Elastic stable intramedullary nailing represents an alternative method for refracture treatment to cast immobilisation for another five to seven weeks. Operative treatment often necessitates an open reduction in most cases due to blocked or narrowed medullary canals.
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