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Open access

Satoshi Higuchi, Hideki Ota, Yuta Tezuka, Kazumasa Seiji, Hidenobu Takagi, Jognmin Lee, Yi-Wei Lee, Kei Omata, Yoshikiyo Ono, Ryo Morimoto, Masataka Kudo, Fumitoshi Satoh, and Kei Takase

Objectives: This study compared cardiac function, morphology, and tissue characteristics between two common subtypes of primary aldosteronism (PA) using a 3T MR scanner.

Design: A retrospective, single center, observational study.

Methods: We retrospectively reviewed 143 consecutive patients with PA, who underwent both adrenal venous sampling and cardiac magnetic resonance. We acquired cine, late gadolinium enhancement, and pre- and post-contrast myocardial T1-mapping images.

Results: PA was diagnosed as unilateral aldosterone-producing adenoma (APA) in 70 patients and bilateral hyperaldosteronism (BHA) in 73. The APA group showed significantly higher plasma aldosterone concentration (PAC) and aldosterone to renin rate (ARR) than the BHA group. After controlling for age, sex, antihypertensive drugs, systolic and diastolic blood pressure, and disease duration, the parameters independently associated with APA were: left ventricular end-diastolic volume index (EDVI: adjusted odds ratio [aOR] = 1.06 [95% CI: 1.030–1.096], p<0.01), end-systolic volume index (ESVI: 1.06 [1.017–1.113], p<0.01), stroke index (SI: 1.07 [1.020–1.121], p<0.01), cardiac index (CI: 1.001 [1.000–1.001], p<0.01), and native T1 (1.01 [1.000–1.019], p = 0.038). Weak positive correlations were found between PAC and EDVI (R = 0.28, p<p0.01), ESVI (0.26, p<p0.01), and SI (0.18, p=0.03); and between ARR and EDVI (0.25, p<0.01), ESVI (0.24, p<0.01), and native T1 (0.17, p = 0.047).

Conclusions: APA is associated with greater LV volumetric parameters and higher native T1 values, suggesting higher risk of volume overload and myocardial damage.

Open access

Shih-Rong Lin, Shih-Fen Chen, Yu-Cih Yang, Chung-Y Hsu, and Yu-Chih Shen

Hyperthyroidism contributes to many other disease conditions, including neurodegenerative diseases. Parkinson's disease (PD) is one of the most common neurodegenerative diseases. The purpose of this study was to investigate the risk of PD in patients with hyperthyroidism. A total of 8788 patients with hyperthyroidism and 8788 controls (without hyperthyroidism) matched by age, gender, index year, and Charlson Comorbidity Index (CCI) score were enrolled between 2000-2012. Patients were then followed until the end of 2013 using Taiwan's National Health Insurance Research Database, at which time participants who developed PD were identified. Cox regression analysis was used to calculate the hazard ratio (HR) with a 95% confidence interval (CI) of PD incidence rate between patients with hyperthyroidism and unaffected controls. Patients with hyperthyroidism had a significantly increased risk of PD compared with unaffected controls (1.21 versus 0.45 per 1000 person-years, HR: 2.69, 95% CI: 1.08-6.66) after adjusting for age, gender, CCI score, comorbidities, and antithyroid therapy. Hyperthyroidism and PD may share common manifestations. After excluding the first year of observation, a similar result is obtained (HR: 2.57, 95% CI: 1.61-4.01). Also, this study found that older age (HR: 3.74-8.53), more comorbidities (HR: 1.58-1.63), and specific comorbidities [brain injury (HR: 1.57) and cerebrovascular disease (HR: 3.44)] were associated with an increased risk of developing PD. Patients with hyperthyroidism have an increased risk of developing PD. Additional prospective clinical studies are warranted to examine the relationship between hyperthyroidism and PD and determine if there is an intervention that could reduce PD risk.

Open access

Monika Schaffner, Ursula Rochau, Nikolai Mühlberger, Annette Conrads-Frank, Vjollca Qerimi-Rushaj, Gaby Sroczynski, Eftychia Koukkou, Betina Heinsbaek, Henry Volzke, Wilhelm Oberaigner, and Uwe Siebert

Objective: More than 30 percent of the German population suffers from mild to moderate iodine deficiency causing goiter and other iodine deficiency disorders (IDDs). The economic burden of iodine deficiency is still unclear. We aimed to assess costs for prevention, monitoring and treatment of IDDs in Germany.

Design: We performed a comprehensive cost analysis.

Methods: We assessed direct medical costs and direct non-medical costs for inpatient and outpatient care of IDDs and costs for productivity loss due to absence of work in 2018 Euro. Additionally, we calculated total costs for an IDD prevention program comprising universal salt iodization (USI). We performed threshold analyses projecting how many cases of IDDs or related treatments would need to be avoided for USI to be cost saving.

Results: Annual average costs per case in the year of diagnosis were EUR 211 for goiter/thyroid nodules; EUR 308 for hyperthyroidism; and EUR 274 for hypothyroidism. Average one-time costs for thyroidectomy were EUR 4,184 and EUR 3,118 for radioiodine therapy. Average costs for one case of spontaneous abortion were EUR 916. Annual costs of intellectual disability were 14,202 Euro. In the German population, total annual costs for USI would amount to 8 million Euro. To be cost saving, USI would need to prevent, for example, 37,900 cases of goiter/thyroid nodules.

Conclusion: USI potentially saves costs, if a minimum amount of IDDs per year could be avoided. In order to recommend the implementation of USI, a full health-economic evaluation including a comprehensive benefit-harm assessment is needed.

Open access

Cecília Cristelo, Alexandra Machado, Bruno Sarmento, and Francisco Miguel Gama

Type 1 diabetes has increasingly greater incidence and prevalence with no cure available. Vitamin D supplementation is well documented to reduce the risk of developing type 1 diabetes. Being involved in the modulation of cathelicidin expression, the question whether cathelicidin may be one of the underlying cause arises. Cathelicidin has been implicated in both the development and the protection against type 1 diabetes by mediating the interplay between the gut microbiome, the immune system and β cell function. While its potential on type 1 diabetes treatment seems high, the understanding of its effects is still limited. This review aims to contribute to a more comprehensive understanding of the potential of vitamin D and cathelicidin as adjuvants in type 1 diabetes therapy.

Open access

Enora Le Roux, Florence Menesguen, Isabelle Tejedor, Marc Popelier, Marine Halbron, Pauline Faucher, Sabine Malivoir, Graziella Pinto, Juliane Leger, Stephane Hatem, Michel Polak, Christine Poitou, and Philippe Touraine

Objective. The transition period between paediatric and adult medicine is associated with poor patient outcomes and important numbers of patients lost to follow up. Describe the cohort of patients in adult care who benefit from a new transition program based on case management approach.

Design. A longitudinal study was led since September 2016 in a French University Hospital.

Methods. Patients with any endocrine or metabolic disease diagnosed during childhood and transferred to adult care were included. The transition program includes 3 steps based on case management: liaising with paediatric services, personalising care pathways, liaising with structures outside hospital (General practitioner, educational and social sector).

Results. The cohort included 500 patients with malignant brain tumour (n=56 (11%)), obesity (n=55 (11%)), type 1 diabetes (n=54 (11%)), or other disease (n=335 (67%)). They were aged 19 in median at transfer, sex ratio: 0.5. At 21 months of follow-up in median, 439 (88%) have regular follow-up in or outside the hospital, 47 (9%) have irregular follow-up (absence at the last appointment or no appointment scheduled within the time recommended), 4 stopped care on the doctor's advice, 4 died, 3 moved, 3 refused care. The program involved 9,615 case management acts, 7% of patients required more than 50 acts. Patients who required most of support are usually affected by a neuro-cognitive disorder and have social issues.

Conclusions. The case manager addresses the complex needs of patients. With time, the cohort will provide unprecedented long-term results of patients with various conditions who went through transition.

Open access

David S. Mathiesen, Jonatan I. Bagger, Katrine B. Hansen, Anders E. Junker, Astrid Plamboeck, Signe Harring, Thomas Idorn, Mads Hornum, Jens J Holst, Anna E Jonsson, Torben Hansen, Tina Vilsbøll, Asger Lund, and Filip K Knop

The T allele of TCF7L2 rs7903146 is a common genetic variant associated with type 2 diabetes (T2D), possibly by modulation of incretin action. In this study, we evaluated the effect of the TCF7L2 rs7903146 T allele on the incretin effect and other glucometabolic parameters in normal glucose tolerant individuals (NGT) and participants with T2D. The rs7903146 variant was genotyped in cohorts of 61 NGT individuals (23 were heterozygous (CT) or homozygous (TT) T allele carriers) and 43 participants with T2D (20 with CT/TT). Participants were previously examined by an oral glucose tolerance test (OGTT) and a subsequent isoglycemic intravenous glucose infusion (IIGI). The incretin effect was assessed by quantification of the difference in integrated beta cell secretory responses during an OGTT and IIGI. Glucose and hormonal levels were measured during experimental days, and from these, indices of beta cell function and insulin sensitivity were calculated. No genotype-specific differences in the incretin effect were observed in the NGT group (P = 0.70) or the T2D group (P = 0.68). NGT T allele carriers displayed diminished glucose-dependent insulinotropic polypeptide response during OGTT (P = 0.01) while T allele carriers with T2D were characterized by lower C-peptide AUC after OGTT (P = 0.04) and elevated glucose AUC after OGTT (P = 0.04). In conclusion, our findings do not exclude that this specific TCF7L2 variant increases the risk of developing T2D via diminished incretin effect, but genotype-related defects were not detectable in these cohorts.

Open access

Serena Martinelli, Mario Maggi, and Elena Rapizzi

Pheochromocytomas/paragangliomas (PPGLs) are rare neuroendocrine tumours linked to more than 15 susceptibility genes. PPGLs present with very different genotype/phenotype correlations. Certainly, depending on the mutated gene, and the activated intracellular signalling pathways, as well as their metastatic potential, each tumour is immensely different. One of the major challenges in in vitro research, whatever the study field, is to choose the best cellular model for that study. Unfortunately, most of the time there is not “a best” cell model. Thus, in order to avoid observations that could be related to and/or dependent on a specific cell line, researchers often perform the same experiments using different cell lines simultaneously. The situation is even more complicated when there are only very few cell models obtained in different species for a disease. This is the case for PPGLs. In this review, we will describe the characteristics of the different cell lines and of mouse models, trying to understand if there is one that is more appropriate to use, depending on which aspect of the tumours one is trying to investigate.

Open access

Hei Yi Vivian Pak, Andrew Lansdown, Peter Taylor, Dafydd Aled Rees, John Stephen Davies, and Caroline Hayhurst


Acromegaly is a rare condition and there is often a long path to diagnosis for many patients. We sought to explore patient’s perceptions and understanding of acromegaly, to examine the quality of communication and find gaps in the information provided at diagnosis.


A prospective study using qualitative research methodology and grounded theory. A semi-structured interview was conducted with 18 patients treated for acromegaly in a single tertiary centre and verbatim transcripts were thematically analysed for overarching themes.


Eighteen patients with acromegaly were interviewed. The mean age of participants was 52 (range 30–72). Four overarching themes emerged; (1) Patients rely on online resources to understand acromegaly in the time between diagnosis and tertiary care clinic; (2) There is not enough support available for patients; (3) Patients have a basic understanding of acromegaly and associated conditions, but the long-term impact is underestimated; and (4) Patients initially felt intimidated by the multidisciplinary team panel, but overall found it useful.


Acromegalic patients have a strong need for information at the point of initial diagnosis, in particular online resources and interaction with other experienced patients. Wider dissemination of patient educational resources into primary and secondary care settings may improve overall patient satisfaction, treatment adherence and subsequent health care provider–patient relationships.

Open access

Thomas Crezee, Mirela Petrulea, Doina Piciu, Martin Jaeger, Jan Wa Smit, Theo S Plantinga, Carmen E. Georgescu, and Romana Netea-Maier

The PI3K-Akt-mTOR pathway plays a central role in the development of non-medullary thyroid carcinoma (NMTC). Although somatic mutations have been identified in these genes in NMTC patients, the role of germline variants has not been investigated. Here, we selected frequently occurring genetic variants in AKT1, AKT2, AKT3, PIK3CA and MTOR and have assessed their effect on NMTC susceptibility, progression and clinical outcome in a Dutch discovery cohort (154 patients, 188 controls) and a Romanian validation cohort (159 patients, 260 controls). Significant associations with NMTC susceptibility were observed for AKT1 polymorphisms rs3803304, rs2494732 and rs2498804 in the Dutch discovery cohort, of which the AKT1 rs3803304 association was confirmed in the Romanian validation cohort. No associations were observed between PI3K-Akt-mTOR polymorphisms and clinical parameters including histology, TNM staging, treatment response and clinical outcome. Functionally, cells bearing the associated AKT1 rs3803304 risk allele exhibit increased levels of phosphorylated Akt protein, potentially leading to elevated signaling activity of the oncogenic Akt pathway. All together, germline encoded polymorphisms in the PI3K-Akt-mTOR pathway could represent important risk factors in development of NMTC.

Open access

Leticia Ribeiro de Oliveira, Carlos Alberto Longui, Guilherme Guaragna-Filho, Jose Luiz Costa, Rafael Lanaro, David Antonio Silva, Maria Izabel Chiamolera, Maricilda Palandi de Mello, Andre Moreno Morcillo, Andrea Trevas Maciel-Guerra, and Gil Guerra Júnior

Objective: Steroid measurement is a challenge in pediatric endocrinology. Currently, liquid chromatography with tandem mass spectrometry (LC-MS/MS) is considered a gold standard for this purpose. The aim of this study was to compare both LC-MS/MS and immunoassay (IA) for androgens before and after human recombinant chorionic gonadotropin (r-hCG) stimulus in children with 46,XY Disorders of Sex Development (DSD).

Methods: Nineteen patients with 46,XY DSD were evaluated; all of them were prepubertal and non gonadectomized. Testosterone, dihydrotestosterone (DHT), dehydroepiandrosterone (DHEA) and androstenedione were measured by IA and LC-MS/MS before and 7 days after rhCG injection. The correlation between IA and LC-MS/MS was analysed by the intraclass correlation coefficient (ICC) and Spearman's rank correlation coefficient (SCC). For concordance analysis the Passing and Bablok (PB) regression and the Bland and Altman (BA) method were used.

Results: Testosterone showed excellent correlation (ICC = 0.960 and SCC = 0.964); DHT showed insignificant and moderate correlations as indicated by ICC (0.222) and SCC (0.631), respectively; DHEA showed moderate correlation (ICC = 0.585 and SCC = 0.716); and androstenedione had poor and moderate correlations in ICC (0.363) and SCC (0.735), respectively. Using the PB method, all hormones showed a linear correlation, but proportional and systematic concordance errors were detected for androstenedione, systematic errors for testosterone and no errors for DHEA and DHT. By the BA method, there was a trend of IA to overestimate testosterone and androstenedione and underestimate DHEA and DHT when compared to LC-MS/MS.

Conclusion: Traditional IA should be replaced by LC-MS/MS for the androgens measurement in prepubertal children whenever is possible.