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PubMed | University of Michigan, Carol Davila University of Medicine and Pharmacy, Royal Victoria Hospital, Beaumont Hospital RCSI Medical School and 13 more.
Type: Journal Article | Journal: Human mutation | Year: 2016

The aryl hydrocarbon receptor interacting protein (AIP) founder mutation R304


Cuesta M.,Beaumont Hospital RCSI Medical School | Thompson C.,Beaumont Hospital RCSI Medical School
Surgeon | Year: 2015

Background: Hyponatraemia is the most common electrolyte disturbance in hospitalized patients. There is an increasing awareness of the impact of hyponatraemia on the perioperative management of surgical patients. Methods: We performed a literature review. We have included relevant data from different surgical disciplines for analysis. In this review we discuss the differential diagnosis of hyponatraemia, and explain the specific relevance of hyponatraemia to pre-, peri- and post-operative care. Results: Hyponatraemia is common during the preoperative period and is associated with an increase in subsequent peri-operative complications, such as wound infection, pneumonia, higher mortality rate and higher direct and indirect costs. Furthermore, data shows poorer surgical outcomes when plasma sodium concentration drops. Careful preoperative evaluation of the hyponatraemic patient enables assessment of surgical risk and individualization of the management of hyponatraemia. Conclusions: We outline a practical guide to the assessment of the cause of hyponatraemia, which dictates the correct management of hyponatraemia and the correct selection of perioperative fluids. Finally, for the therapeutic role of the new vasopressin antagonist drugs in the treatment of surgical hyponatraemia is discussed in two illustrative surgical clinical cases. © 2014 Royal College of Surgeons of Edinburgh (Scottish charity number SC005317) and Royal College of Surgeons in Ireland.


Hannon M.J.,Beaumont Hospital RCSI Medical School | Sherlock M.,Beaumont Hospital RCSI Medical School | Thompson C.J.,Beaumont Hospital RCSI Medical School
Best Practice and Research: Clinical Endocrinology and Metabolism | Year: 2011

Traumatic brain injury and subarachnoid haemorrhage are important causes of morbidity and mortality in the developed world. There is a large body of evidence that demonstrates that both conditions may adversely affect pituitary function in both the acute and chronic phases of recovery. Diagnosis of hypopituitarism and accurate treatment of pituitary disorders offers the opportunity to improve mortality and outcome in both traumatic brain injury and subarachnoid haemorrhage. In this article, we will review the history and pathophysiology of pituitary function in the acute phase following traumatic brain injury and subarachnoid haemorrhage, and we will discuss in detail three key aspects of pituitary dysfunction which occur in the early course of TBI; acute cortisol deficiency, diabetes insipidus and SIAD. © 2011 Elsevier Ltd. All rights reserved.


PubMed | Beaumont Hospital RCSI Medical School
Type: Journal Article | Journal: QJM : monthly journal of the Association of Physicians | Year: 2016

The natural history of adipsic diabetes insipidus (ADI) is not well described, and reports of recovery of thirst are rare.Case histories presentation. ADI was identified by demonstrating absent thirst and arginine vasopressin (AVP) responses to hypertonic saline infusion.Twelve patients with ADI were identified (craniopharyngioma 5, anterior communicating artery aneurysm (ACOM) repair 4, congenital 1, neurosarcoidosis 1, prolactinoma 1). Three patients died. Six patients had permanent ADI. Three patients had recovery of thirst, with a heterogenous pattern of recovery. In the first case, ADI had developed after clipping of an ACOM aneurysm. Ten years after surgery; he sensed the return of thirst; repeated hypertonic saline infusion showed recovery of thirst and AVP secretion. In the second case, a 41-year-old female with an intrasellar craniopharyngioma developed post-operative ADI with persistent hypernatremia. Two years post-operatively, she complained of thirst, and hypertonic saline infusion showed normalization of thirst but absent AVP responses, confirming recovery of thirst, but with persistent diabetes insipidus (DI). In the third case, a 29-year-old Caucasian had craniotomy and radiotherapy for craniopharyngioma and developed ADI post-operatively. Eight years post-op, she presented with thirst, seizures and pNa of 112 mmol/l. Hypertonic saline infusion showed persistent DI but thirst responses typical of compulsive water drinking; she has had recurrent hyponatraemia since then.We report that 3/12 patients with ADI recovered thirst after longstanding adipsia with heterogenous pattern of recovery. Both the mortality of 25% and the recovery rate of 25% should be considered when planning long-term surveillance.


PubMed | University of Amsterdam, Connolly Hospital, Texas Tech University Health Sciences Center, Dublin City University and 3 more.
Type: | Journal: Clinical endocrinology | Year: 2016

Alterations in the hypothalamo-pituitary-thyroid axis have been reported following growth hormone (GH) replacement. The aim was examine the relationship between changes in serum concentration of thyroid hormones and deiodinase activity in subcutaneous adipose tissue, before and after GH replacement.A prospective, observational study of patients receiving GH replacement as part of routine clinical care.Twenty adult hypopituitary men.Serum TSH, thyroid hormones - free & total thyroxine (T4) and triiodothyronine (T3) and reverse T3, thyroglobulin and thyroid binding globulin (TBG) levels were measured before and after GH substitution. Changes in serum hormone levels were compared to activity of deiodinase isoenzymes (DIO1, DIO2 and DIO3) in subcutaneous adipose tissue.The mean daily dose of growth hormone (GH) was 0.340.11 mg (range 0.15 - 0.5mg). Following GH replacement, mean freeT4 levels declined (-1.091.99 pmol/L, p=0.02). Reverse T3 levels also fell (-3.441.42 ng/dL, p=0.03) and freeT3 levels increased significantly (+0.340.15 pmol/l, p=0.03). In subcutaneous fat, DIO2 enzyme activity declined; DIO1 and DIO3 activity remained unchanged following GH substitution. Serum TSH, thyroglobulin and TBG levels were unaltered by GH therapy.In vitro analysis of subcutaneous adipose tissue from hypopituitary human subjects demonstrates that GH replacement is associated with significant changes in deiodinase isoenzyme activity. However, the observed variation in enzyme activity does not explain the changes in the circulating concentration of thyroid hormones induced by GH replacement. It is possible that deiodinase isoenzymes are differentially regulated by GH in other tissues including liver and muscle. This article is protected by copyright. All rights reserved.


PubMed | Trinity College Dublin and Beaumont Hospital RCSI Medical School
Type: Journal Article | Journal: Clinical endocrinology | Year: 2016

The syndrome of inappropriate antidiuresis (SIAD) is the commonest cause of hyponatraemia. Data on SIAD are mainly derived from retrospective studies, often with poor ascertainment of the minimum criteria for the correct diagnosis. Reliable data on the incidence of adrenal failure in SIAD are therefore unavailable. The aim of the study was to describe the aetiology of SIAD and in particular to define the prevalence of undiagnosed adrenal insufficiency.Prospective, single centre, noninterventional, observational study of patients admitted to Beaumont Hospital with euvolaemic hyponatraemia (plasma sodium130mmol/l) between January 1st and October 1st 2015.A total of 1323 admissions with hyponatraemia were prospectively evaluated; 576 had euvolaemic hyponatraemia, with 573 (434%) initially classified as SIAD.(i) Aetiology of SIAD, defined by diagnostic criteria; (ii) Incidence of adrenal insufficiency.Central nervous system diseases were the commonest cause of SIAD (n=148, 26%) followed by pulmonary diseases (n=111, 19%), malignancy (n=105, 18%) and drugs (n=47, 8%). A total of 22 patients (38%), initially diagnosed as SIAD, were reclassified as secondary adrenal insufficiency on the basis of cortisol measurements and clinical presentation; 9/22 cases had undiagnosed hypopituitarism; 13/22 patients had secondary adrenal insufficiency due to exogenous steroid administration.In a large, prospective and well-defined cohort of euvolaemic hyponatraemia, undiagnosed secondary adrenal insufficiency co-occurred in 38% of cases initially diagnosed as SIAD. Undiagnosed pituitary disease was responsible for 15% of cases presenting as euvolaemic hyponatraemia.


PubMed | Beaumont Hospital RCSI Medical School
Type: Journal Article | Journal: Journal of endocrinological investigation | Year: 2016

Hyponatremia is the commonest electrolyte disturbance encountered in hospitalized patients, and the syndrome of inappropriate antidiuresis (SIAD) is the most frequent underlying disorder. There is a well-recognized relationship between hyponatremia and increased morbidity and mortality. Therefore, to provide appropriate treatment is critical to improve the clinical outcome related to SIAD-hyponatremia. There have been important advances in the treatment of SIAD over the last decade, leading to the publication of several clinical guidelines. In particular, the introduction of the vasopressin-2 receptor antagonists provides a potent pharmacological tool to target the underlying pathophysiology of SIAD. The evidence base recommendations of the available therapies for SIAD are discussed in this study. Fluid restriction is considered the first-line therapy by the recent published guidelines, but it is certainly ineffective or unfeasible in many patients with SIAD. We discuss a number of relevant points to the use of fluid restriction in this study, including the lack of good evidence-based recommendations to support its use. Conversely, the clinical efficacy of oral tolvaptan in SIAD supported by good quality randomized, placebo controlled, clinical trials. However, the cost of the therapy and the need for long-term safety data may limit its widespread use. Finally, new recommendations for the management of acute hyponatremia with a focus on the use of bolus therapy with 3% hypertonic sodium chloride are described in this study.


PubMed | Beaumont Hospital RCSI Medical School
Type: Journal Article | Journal: Best practice & research. Clinical endocrinology & metabolism | Year: 2016

Hyponatraemia is the commonest electrolyte disturbance encountered in clinical practice and the syndrome of inappropriate antidiuresis (SIADH) is the most frequent underlying disorder. There is a well-recognized relationship between hyponatraemia and increased morbidity and mortality, though it is unknown whether SIADH confers the same mortality as other causes of hyponatraemia. SIADH is the biochemical manifestation of a wide variety of diseases, and the pathophysiology of SIADH is sometimes multiple. There have been significant advances in the treatment of SIADH over the last 10 years, in particular since the introduction of the vasopressin-2 receptor antagonists, which provide a potent, disease-specific tool which targets the underlying pathophysiology of SIADH. The mechanisms and the evidence base recommendations of the available therapies for SIADH are discussed in this article. The various guidelines and recommendations for treatment of hyponatraemia all emphasise that fluid restriction is first line therapy for SIADH, but we feel that it is ineffective or unfeasible in many patients. A number of key points relevant to the use of fluid restriction are presented in the manuscript. The clinical efficacy of tolvaptan in SIADH supported by good quality randomized, placebo controlled, clinical trials. However, the cost of the therapy and the need for long term safety data may limit its widespread use. Finally, new recommendations for the management of acute hyponatraemia, with a focus on the use of bolus therapy with 3% hypertonic sodium chloride is described.


The economic and logistic burden of screening for hypopituitarism following moderate/severe traumatic brain injury (TBI) is considerable. A key recommendation in published guidelines is to prioritize for screening those patients with symptoms suggestive of pituitary dysfunction. The purpose of this study was to evaluate the utility of targeted screening for hypopituitarism in long-term survivors after moderate/severe TBI using referrals on the basis of symptoms.In group 1 (G1), consecutive, unselected patients were screened from the Irish National Neurosurgery Centre, whereas in group 2 (G2) patients were targeted based on the presence of symptoms suggestive of pituitary dysfunction.A total of 137 patients (113 male) were systematically screened (G1) and compared to 112 patients (77 male) referred for pituitary evaluation on the basis of suggestive symptoms (G2).The rate of GH, ACTH, gonadotrophin (GT), TSH and ADH deficiency was compared among groups.Patients referred with menstrual dysfunction had more GH (50% vs 11%, P = 0001), ACTH (60% vs 14%, P < 00001), GT (90% vs 16%, P < 00001) deficiency and any pituitary hormone deficit (80% vs 33%, P = 0003) than G1. Men with symptoms of hypogonadism had more GH (33% vs 11%, P = 0003), GT (58% vs 16%, P < 00001) and TSH (16% vs 1%, P = 003) deficiency than G1. Patients with nonspecific symptoms were no more likely to have hypopituitarism than those consecutively screened.Symptoms of hypogonadism are sufficiently predictive of hypopituitarism to justify screening for hypopituitarism after moderate/severe TBI. Nonspecific symptoms of hypopituitarism are no more predictive than unselected screening.

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