Searchable abstracts of presentations at key conferences in endocrinology

ea0029p1620 | Thyroid (non-cancer) | ICEECE2012

Successful treatment of hyperthyroidism is associated with significant risks of overweight/obesity independent of the treatment modality employed

Torlinska B. , Holder R. , Franklyn J. , Boelaert K.

Introduction: Obesity is a growing health concern in developed countries. Patients undergoing treatment for hyperthyroidism frequently express concerns regarding excessive weight gain, especially when offered treatment with I-131.Methods: We investigated 1047 patients with overt hyperthyroidism attending a specialist thyroid clinic to determine the extent of weight changes and to identify risk factors for weight gain following treatment. Weight differenc...

ea0019p372 | Thyroid | SFEBES2009

Confirmation of the chromosome 2q37 region as a susceptibility locus for Graves’ disease

Newby P , Pickles O , Franklyn J , Gough S , Simmonds M

Genome wide association (GWA) studies have revolutionised the search for new susceptibility loci for complex diseases such as GravesÂ’ disease (GD), by confirming association of known genes and identifying several novel susceptibility loci. The high density lipoprotein binding protein (HDLBP) on chromosome 2q37 is one such novel locus recently identified by the WTCCC as part of a 14 500 nonsynonymous single nucleotide polymorphisms (SNP) screen performed in 900 UK C...

ea0010p91 | Thyroid | SFE2005

Lack of association of interleukin-13 polymorphisms with Graves’ disease

Heward J , Simmonds M , Franklyn J , Gough S

Genome wide screens in GravesÂ’ disease (GD) have identified several regions of linkage which may harbour genes which contribute to disease susceptibility. One such region, on chromosome 5q31-33, contains a cytokine cluster which includes interleukin-13 (IL-13). This molecule plays a key role in IgE production, which has been reported to be elevated in patients with GD. Two functional single nucleotide polymorphisms (SNPs), -1112 and +2044, within the IL-13 gene were recen...

ea0009p62 | Growth and development | BES2005

Separase and Securin; their roles in the developing human fetal brain

Pemberton H , Boelaert K , Kilby M , Franklyn J , McCabe C

During mitosis, temporal release of separase from its inhibitor securin results in cohesin cleavage, thereby promoting anaphase. The developing fetal brain has rapidly proliferating neuronal cells whilst adult neurons no longer proliferate. When comparing 61 fetal and 12 adult human brain samples, we found significantly increased separase mRNA and protein throughout ontogeny and reduced securin expression in fetal brain compared with adult. Using MTT assays, we examined the ef...

ea0007oc21 | Thyroid | BES2004

Gender, age, goitre type and serum TSH level predict thyroid neoplasia in 1500 patients with thyroid enlargement investigated by FNAC

Boelaert K , Horacek Y , Daykin J , Sheppard M , Franklyn J

1500 euthyroid patients (1302 females and 198 males, mean age 47.8) presenting with thyroid enlargement were evaluated by fine needle aspiration (FNAC) of the thyroid as the first line investigation. The final cytological or histological diagnosis was determined after surgery (n=556) or clinical follow-up for a minimum period of 2 years (mean 9.5 yrs, range 2-19 years). Goitre type was assessed clinically and classified as diffuse in 184, multinodular in 457 or solitary nodule...

ea0007oc22 | Thyroid | BES2004

Defining genetic predictors for the development of Graves' disease in young females

Collins J , Heward J , Cordell H , Franklyn J , Gough S

The HLA and CTLA-4 gene regions, on chromosomes 6p21 and 2q33 respectively, have been consistently associated with Graves' disease (GD). Recent data indicate that both DRB1 (in the HLA class II region) and the 3' untranslated region of the CTLA-4 gene are the most likely regions harbouring the aetiological variants for susceptibility to GD. It is not known, however, whether these variants lead to expression of specific sub-phenotypes in subjects with GD, or contribute to disea...

ea0007p138 | Growth and development | BES2004

A dominant negative thyroid hormone receptor (TR) beta1 mutant enhances N-Tera-2 (NT2) cell proliferation

Chan S , McCabe C , Franklyn J , Kilby M

The vulnerability of early central nervous system (CNS) development to thyroid hormone (TH) deprivation has been highlighted by studies showing an association between maternal hypothyroxinemia during the first trimester and long-term neurodevelopmental delay in the offspring. The molecular mechanisms underlying this observation are, however, poorly understood. It is known that the actions of triiodothyronine (T3), the active TH metabolite, are primarily mediated by TRs, which ...

ea0007p226 | Thyroid | BES2004

Outcome of atrial fibrillation complicating hyperthyroidism

Osman F , Daykin J , Sheppard M , Gammage M , Franklyn J

Atrial fibrillation (AF) is the commonest dysrhythmia (after sinus tachycardia) complicating hyperthyroidism. We have previously reported increased vascular mortality in hyperthyroidism and postulate this reflects the prevalence of AF. We recruited a consecutive series of 425 subjects with overt hyperthyroidism (n=334 females, 91 males) and determined the prevalence and outcome of AF. All had 12 lead ECG and 24h Holter monitoring before and after antithyroid treatment with thi...

ea0003p59 | Clinical Case Reports | BES2002

Anaplastic carcinoma of the thyroid presenting with hyperthyroidism

Dale J , Watkinson J , Sheppard M , Franklyn J

A 76-year-old lady developed a tender thyroid swelling following a fall at home. One month later she was admitted with acute dyspnoea, and increased pain and swelling in her neck. She was found to be hyperthyroid on endocrine testing: free T4 (FT4) 24.8 (9-20) picomoles/litre, free T3 (FT3) 8.1 (3.5-6.5) picomoles/litre and thyrotropin (TSH) 0.2 (0.4-5.5) mIU/litre. She also had a raised erythrocyte sedimentation rate (ESR) at 54 mm/hr. She was commenced on hydrocortisone and ...

ea0003p275 | Thyroid | BES2002

Atrial fibrillation predicts mortality in thyrotoxicosis

Osman F , Daykin J , Sheppard M , Gammage M , Franklyn J

Thyrotoxicosis is a common disorder which induces many cardiovascular effects and is associated with increased cardiovascular mortality. We recruited 283 consecutive unselected thyrotoxic subjects attending our thyroid clinic and 283 age and sex-matched euthyroid controls. All completed a structured cardiovascular history and examination, resting 12-lead ECG and 24-hour Holter recording. Follow up data on mortality was collected for a year. The median age of the cohorts was 49...