Alternative splicing generates isoform diversity in .

Although the gene has a long-standing association with cancer, its mechanisms of action remain incompletely understood, acting both as a tumour suppressor in neuroendocrine tumours and as an oncogene in leukaemia. The best-characterised isoform of the encoded protein, MENIN, is the 610-amino acid MENIN isoform 2. We hypothesise that some of the complexity of biology can be attributed to a currently unappreciated contribution of different MENIN isoforms.

Accuracy of ethnicity records at primary and secondary healthcare services in Waikato region, Aotearoa New Zealand.

Aims: Ethnicity is an important variable, and in Aotearoa New Zealand it is used to monitor population health needs, health services outcomes and to allocate resources. However, there is a history of undercounting Māori. The aim of this study was to compare national and primary care ethnicity data to self-reported ethnicity from a Kaupapa Māori research cohort in the Waikato region.

Systematic Review-Type B Insulin Resistance With Isolated Hypoglycemia and Suppressed Insulin.

Objective: Type B insulin resistance syndrome is a rare autoimmune disorder affecting glucose homeostasis, characterized by serum autoantibodies to the insulin receptor (AIRAbs). Patients typically present with severe insulin resistance. A mixed hyper- and hypoglycemia phenotype may also occur, as may isolated hypoglycemia.

Systematic Review of Therapeutic Agents and Long-Term Outcomes of Familial Hyperaldosteronism Type 1.

Background: Familial hyperaldosteronism type 1 (FH1), previously known as glucocorticoid-remediable aldosteronism, was the first identified monogenic cause of primary aldosteronism. Patients classically develop hypertension at a young age and are at risk of premature vascular complications. A systematic review of FH1 was performed to determine long-term treatment outcomes.

Ethnic differences in patients undergoing thyroidectomy for non-toxic multinodular goitre.

Background: Māori have an increased incidence of thyrotoxicosis when compvared to non-Māori, however there are limited data on benign non-toxic nodular thyroid disease.

Aims: The aims of this study were to determine the rates of non-toxic multinodular goitre (NTMNG) surgery for Māori and non-Māori and to determine if there were differences in thyroid size between Māori and non-Māori undergoing total thyroidectomy for NTMNG.

Methods: Single centre study of patients undergoing thyroidectomy for NTMNG from 1 December 2006 to 30 November 2016.

A Clinicopathologic and Molecular Analysis of Fumarate Hydratase-deficient Pheochromocytoma and Paraganglioma.

Up to 40% of pheochromocytomas (PCCs) and paragangliomas (PGLs) are hereditary. Germline mutations/deletions in fumarate hydratase ( FH ) cause hereditary leiomyomatosis and renal cell carcinoma syndrome which manifests predominantly with FH-deficient uterine/cutaneous leiomyomas and renal cell carcinomas (RCCs)-tumors characterized by loss of immunohistochemical (IHC) expression of FH and/or positive staining for S-(2-succino)-cysteine. Occasional patients develop PCC/PGL.

Systematic Review: Incidence of Pheochromocytoma and Paraganglioma Over 70 Years.

Context: Pheochromocytomas and paragangliomas (PPGLs) are known to be rare. However, there is scant literature reporting their epidemiology, particularly whether the diagnosis of PPGL has increased with advances in medical imaging and biochemical and genetic testing.

Objective: The primary objective of this systematic review was to determine the annual incidence of PPGLs and change over time.

Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications.

Autosomal dominant hypocalcemia type 1 (ADH1) is a disorder of extracellular calcium homeostasis caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR). More than 35% of ADH1 patients have intracerebral calcifications predominantly affecting the basal ganglia. The clinical consequences of such calcifications remain to be fully characterized, although the majority of patients with these calcifications are considered to be asymptomatic.

A typical presentation of type B insulin resistance syndrome with isolated hypoglycaemia and suppressed insulin.

Type B insulin resistance syndrome is a rare autoimmune disorder affecting glucose homeostasis characterised by the presence of serum autoantibodies to the insulin receptor. Typically, these patients present with severe insulin resistance although a mixed hyperglycaemic and hypoglycaemic phenotype may also occur, as can an exceptionally rare isolated hypoglycaemia presentation. The classic biochemical pattern comprises elevated insulin levels despite significant hypoglycaemia.

Pituitary function following peptide receptor radionuclide therapy for neuroendocrine tumours.

Peptide receptor radionuclide therapy (PRRT) is an increasingly used treatment for unresectable neuroendocrine tumours (NETs) that express somatostatin receptors. Normal pituitary tissue expresses somatostatin receptors so patients receiving PRRT may be at risk of developing hypopituitarism. The aim was to assess the prevalence of clinically significant hypopituitarism a minimum of 2 years following radioisotope therapy for metastatic NET.

Thyrotoxicosis in an Indigenous New Zealand Population - a Prospective Observational Study.

Background: Reported international incidence rates of thyrotoxicosis vary markedly, ranging from 6 to 93 cases per 100 000 per annum. Along with population demographics, exposures, and study design factors, ethnicity is increasingly being recognized as a potential factor influencing incidence. This study aimed to document the epidemiology and clinical presentation of thyrotoxicosis for Māori, the indigenous population in New Zealand.

(formerly ) and Shoulder Surgery.

Infection is a rare but serious complication of shoulder arthroplasty. The most prevalent cause of patient infections is (formerly ), a commensal skin bacterial species. Its presentation is often non-specific and can occur long after shoulder arthroplasty, leading to delay in diagnosis.

A Comparison of Skeletal Injuries Arising from Moped and Motorcycle Collisions.

Motorcycle and moped injuries remain a significant cause of motor-vehicle related morbidity and mortality. There is a paucity of literature describing the skeletal injuries of moped riders and how these compare to those of motorcyclists, however. This study seeks to examine the skeletal injuries sustained in such incidents and determine if there are significant differences.

Inequitable Long-Term Outcomes for an Indigenous Population After Definitive Treatment of Patients With Graves Disease.

Background: Māori, the indigenous people of Aotearoa/New Zealand, have an increased incidence of Graves disease and often require more than one radioiodine (RAI) dose, raising the question as to whether surgery may be preferable in this population. However, there is a lack of outcome data after definitive therapy in an indigenous population.

Aim: To assess ethnic differences in thyroid status after definitive therapy for Graves disease.

Regulation of murine skeletal muscle growth by STAT5B is age- and sex-specific.

Background: Sexually dimorphic growth has been attributed to the growth hormone (GH)/insulin-like growth factor 1 (IGF1) axis, particularly GH-induced activation of the intracellular signal transducer and activator of transcription 5B (STAT5B), because deletion of STAT5B reduces body mass and the mass of skeletal muscles in male mice to that in female mice. However, it remains unclear why these effects are sex- and species-specific, because the loss of STAT5B retards growth in girls, but not in male mice. Our objectives were to determine whether sexually dimorphic growth of skeletal muscle persisted in STAT5B mice and investigate the mechanisms by which STAT5B regulates sexually dimorphic growth.

GH replacement titrated to serum IGF-1 does not reduce concentrations of myostatin in blood or skeletal muscle.

Objective: Traditional weight-based regimens of GH replacement are more effective at reversing the loss of skeletal muscle in GH-deficient adults than currently recommended regimens, where the dose of GH is increased to restore serum concentrations of IGF-1. While weight-based regimens increase concentrations of IGF-1 and decrease concentrations of myostatin, it is not known whether the reduced effectiveness of individually titrated GH regimens is due to ongoing hypersecretion of myostatin. Consequently, the aims of this study were to determine whether concentrations of myostatin in blood and skeletal muscle are increased in GH-deficient adults, and whether these concentrations are decreased by GH replacement regimens titrated to restore serum IGF-1.

Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer.

Pancreatic neuroendocrine tumors (pNETs) are uncommon cancers arising from pancreatic islet cells. Here we report the analysis of gene mutation, copy number, and RNA expression of 57 sporadic well-differentiated pNETs. pNET genomes are dominated by aneuploidy, leading to concordant changes in RNA expression at the level of whole chromosomes and chromosome segments.

The safety of anaesthetising biochemically hyperthyroid patients undergoing thyroidectomy-a retrospective cohort study.

Traditionally it is recommended that hyperthyroid patients should be made euthyroid prior to thyroidectomy. However, several small observational studies have reported no increase in adverse events when hyperthyroid patients undergo thyroidectomy. The aim of this study was to assess outcomes following total thyroidectomy in patients who were biochemically hyperthyroid at the time of surgery compared to those who were euthyroid.

Treatment choice, satisfaction and quality of life in patients with Graves' disease.

Background: Thyrotoxicosis, most often caused by Graves' disease (GD), when treated inadequately may result in premature mortality. There is little consensus as to which of the 3 treatment options available - antithyroid drugs (ATD), radioactive iodine (RAI) and surgery, is better.

Aims: (i) To assess factors involved in treatment choice and treatment satisfaction in patients treated for Graves' disease; (ii) To assess quality of life (QoL) following treatment of Graves' disease.

Anaemia and thyrotoxicosis: The need to look for an alternative cause.

Objectives: Anaemia and thyrotoxicosis are both relatively common. It is unclear whether thyrotoxicosis results in anaemia in the absence of other causes. The aim of this study was to determine the prevalence and characteristics of anaemia in patients with thyrotoxicosis.

Increased Admissions Due to Cardiac Complications of Thyrotoxicosis in Māori.

Background: As thyrotoxicosis is a risk factor for atrial fibrillation, current guidelines recommend measuring a thyroid-stimulating hormone level in patients with this disorder. Hyperthyroidism may also be associated with other heart diseases including cardiac ischaemia and cardiac failure. Currently, the prevalence of thyrotoxicosis in cardiac admissions in the absence of a rhythm disorder is unknown.