Severe osteoporosis with multiple spontaneous vertebral fractures in a young male carrying triple polymorphisms in the vitamin D receptor, collagen type 1, and low-density lipoprotein receptor-related peptide 5 genes

Maria P. Yavropoulou, Panagoulia Kollia, Dimitris Chatzidimitriou, Stavroula Samara, Lemonia Skoura, John G. Yovos

Download PDF

Osteoporosis is a common disease with a strong genetic component. Several studies have reported the vitamin D receptor (VDR), collagen type I (COL1A1), and LDL receptor-related protein 5 (LRP5) genes as the most likely candidates. However, most of the studies have been carried out in postmenopausal women and older men and show inconsistent results …

Low vitamin D status is associated with hypothyroid Hashimoto’s thyroiditis

Dohee Kim

Download PDF

OBJECTIVE: The association of low vitamin D status with autoimmune thyroid disease (AITD), which includes Hashimoto’s thyroiditis (HT) and Graves’ disease (GD), is controversial. The aim of this study was to investigate the correlation between vitamin D insufficiency and AITD, HT, and GD. DESIGN: Our cross-sectional study included patients …

A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism

Marios Papadakis, Natalie Meurer, Theodora Margariti, Anke Meyer, Norbert Weyerbrock, Cornelia Dotzenrath

Download PDF

OBJECTIVE: The coexistence of familial hypocalciuric hypercalcemia (FHH) and primary hyperparathyroidism (PHPT) is extremely rare. Genetic evidence has demonstrated a causal relationship between FHH and the presence of inactivating mutations in the calcium-sensing receptor gene …

Validity and reliability of the Greek version of the Diabetic Foot Ulcer Scale – Short Form (DFS-SF)

Nick Kontodimopoulos, Anastasia Veniou, Nicholas Tentolouris, Dimitris Niakas

Download PDF

OBJECTIVE: Diabetic foot ulcer is a critical and costly complication of diabetes mellitus. The aim of this study was to assess the psychometric properties of the Greek version of the diabetic foot ulcer scale – short form (DFS-SF). DESIGN: A sample of patients with diabetic foot ulcer (N=110) was surveyed with the DFS-SF …

Beneficial effect of dose escalation and surgical debulking in patients with acromegaly treated with somatostatin analogs in a Romanian tertiary care center

Monica Livia Gheorghiu, Simona Găloiu, Mădălina Vintilă, Mariana Purice, Dan Hortopan, Anda Dumitraşcu, Mihail Coculescu, Cătălina Poiană

Download PDF

BACKGROUND: Somatostatin analogs (SSA) are now considered standard therapy for acromegaly, as primary or adjunctive treatment after pituitary surgery. OBJECTIVE: To evaluate the efficacy of SSA and the effect of dose escalation in non-operated patients with acromegaly as compared to patients treated after pituitary surgery in a Romanian tertiary care center …

Calcium homeostasis in women with non-metastatic breast cancer with osteoporosis after a single dose of denosumab: a pilot study

Konstantinos Toulis, Paschalia Iliadou, Stylianos Mandanas, Polyzo Kazila, Efterpi Margaritidou, Konstantinos Georgopoulos, Kalliopi Pazaitou-Panayiotou

Download PDF

Along with achieving a reduction in the incidence of osteoporotic fractures, denosumab (a human monoclonal antibody against the receptor activator of nuclear factor kappa-B ligand (RANKL) causes conformational changes in the calcium-sensing receptor (CaSR), leading to parathyroid hormone exocytosis …

Bone mineral status and metabolism in patients with Williams-Beuren syndrome

Stefano Stagi, Cristina Manoni, Perla Scalini, Francesco Chiarelli, Alberto Verrotti, Cecilia Cecchi, Elisabetta Lapi, Sabrina Giglio, Silvia Romano, Maurizio de Martino

Download PDF

OBJECTIVE: To evaluate bone mineral status and metabolism in a cohort of patients with Williams-Beuren syndrome (WBS). PATIENTS: Thirty-one children (15 females, 16 males; mean age 9.6±2.74 years) and 10 young adults (6 females, 4 males; mean age 21.4±5.11 years) with WBS were cross-sectionally evaluated and compared with two age-, sex-, and body-size-matched paediatric …

Emerging treatment modalities for advanced pancreatic neuroendocrine tumors

Alessandro Sindoni, Fausto Famà, Maria Gioffre-Florio, Sergio Baldari

Download PDF

It was with great interest that we read the article titled “Neoadjuvant therapy for advanced pancreatic neuroendocrine tumors: an emerging treatment modality?” by I. Perysinakis et al published in the first issue of 2016 of the Journal …

Defining optimal vitamin D cut-off levels: Τhe role of parathyroid hormone concentrations

Spyridon N. Karras, William B.Grant, Declan P. Naughton, Kalliopi Kotsa

Download PDF

We read with interest the recent article by Katrinaki et al. The authors report on cross-sectional values of serum 25-hydroxyvitamin D [25(OH)D] concentrations from a large Mediterranean cohort in Crete, Greece …

Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation

Christos Shammas, Stefania Byrou, Marie M. Phelan, Meropi Toumba, Charilaos Stylianou, Nicos Skordis, Vassos Neocleous, Leonidas A. Phylactou

Download PDF

OBJECTIVE: Congenital adrenal hyperplasia (CAH) is an endocrine autosomal recessive disorder with various symptoms of diverse severity. Mild hyperandrogenemia is the most commonclinical feature in non-classic CAH patients and 95% of the cases are identified by mutations in the CYP21A2 gene. In the present study, the second most common cause for non-classic CAH (NC-CAH), 11β-hydroxylase deficiency due to mutations in the CYP11B1 gene, is investigated …

Corticotropin-releasing factor (CRF) system localization in human fetal heart

Efterpi Chouridou, Maria Lambropoulou, Maria Koureta, Christina Zarouchlioti, Ioanna Balgouranidou, Evangelia Nena, Nikolaos Papadopoulos, Ekaterini Chatzaki

Download PDF

OBJECTIVE: The corticotropin-releasing factor (CRF) family consists of the neuropeptides CRF, Ucn I, II and III and the binding sites CRFR1, CRFR2 and CRF-BP. It regulates stress response and the homeostasis of an organism. In this study, we examined the presence of the CRF system in the human hearts of normal and pathological fetuses. DESIGN: Heart tissues from 40 archival human fetuses were divided …

Development and validation of an osteoporosis treatment questionnaire (OSTREQ) evaluating physicians’ criteria in the choice of treatment

Polyzois Makras, Antonios Galanos, Stavroula Rizou, Athanasios D. Anastasilakis, George P. Lyritis

Download PDF

OBJECTIVE: This article describes the development and validation of the osteoporosis treatment questionnaire (OSTREQ), which is a physician-reported outcome tool aiming to evaluate physicians’ criteria in the choice of osteoporosis treatment. DESIGN: The questionnaire –named OSTREQ– consisting of 17 questions that were divided into eight sections …

The gonadotroph origin of null cell adenomas

George Kontogeorgos, Eleni Thodou

Download PDF

OBJECTIVE: The term “null cell” adenoma was first proposed in 1980 to designate pituitary adenomas lacking clinical, biochemical and morphological markers to disclose their cell origin. DESIGN: The aim of this study was to investigate the presence of α- and β-gonadotropin subunits in clinically nonfunctioning pituitary tumors …

Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A

Maryam Nasiri Aghdam, Mohammad Reza Abbaszadegan, Alireza Tafazoli, Mohammad Aslzare, Zohreh Mosavi

Download PDF

PURPOSE: Multiple Endocrine Neoplasia type 2A (MEN2A) is a complex autosomal dominant inherited syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and primary parathyroid hyperplasia. In patients with only one or two clinical features, identification of a germ line RET (REarranged in Transfection) mutation is required to make the diagnosis and initiate genetic counseling. METHODS: We analyzed blood DNA from three Iranian families with three generations …

The depiction of acromegaly in ancient Greek and Hellenistic art

Konstantinos Laios, Maria Zozolou, Konstantinos Markatos, Marianna Karamanou, George Androutsos

Download PDF

In 1886, Pierre Marie (1853-1940) published the first accurate scientific description of acromegaly while also coining the term that we now employ (acromegaly today being used when the disease appears in adulthood, and gigantism when it is seen in childhood) …

The human Ec peptide: the active core of a progression growth factor with species-specific mode of action

Efstathia Papageorgiou, Anastassios Philippou, Athanasios Armakolas, Panagiotis F. Christopoulos, Andreas Dimakakos, Michael Koutsilieris

Download PDF

OBJECTIVE: Preferential IGF-1Ec expression has been firmly associated with skeletal muscle repair mechanisms, post-infarction remodeling of the myocardium, the pathophysiology of endometriosis and prostate cancer biology. Therefore, we have studied the possible biological significance of synthetic Ec peptide, a putative cleavage product of IGF-1Ec in PC-3 cells and C2C12 myoblasts …

A rare missense variant in RET exon 8 in a Portuguese family with atypical multiple endocrine neoplasia type 2A

Ana Filipa Martins, João Martin Martins, Sónia do Vale, Teresa Dias, Catarina Silveira, Inês Rodrigues da Silva, Maria Carmo-Fonseca

Download PDF

BACKGROUND AND OBJECTIVE: Multiple Endocrine Neoplasia type 2 (MEN2) is a rare genetic disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and primary hyperparathyroidism. MEN2 is an autosomal dominant syndrome caused by mutations in the RET proto-oncogene …

Salivary testosterone responses to a physical and psychological stimulus and subsequent effects on physical performance in healthy adults

Blair T. Crewther, Liam P. Kilduff, Charlie Finn, Phil Scott, Christian J. Cook

Download PDF

OBJECTIVE: To address the rapid influence of testosterone (T) on neuromuscular performance, we compared the T and physical performance responses of adults exposed to a physical and psychological stimulus. DESIGN: A group of healthy men (n=12) and women (n=14) each completed three treatments using a randomised, crossover design: exercise involving five × ten-second cycle sprints, viewing a video clip with aggressive content and a control session …

Which is the best predictor of thyroid cancer: thyrotropin, thyroglobulin or their ratio?

Pinar Yazici, Mehmet Mihmanli, Emre Bozkurt, Feyza Yener Ozturk, Mehmet Uludag

Download PDF

OBJECTIVE: Since documented incidence of thyroid cancer has been rising over time, in part due to incidental small papillary cancer, several studies have been carried out to investigate the role of possible serum markers of thyroid cancer prior to surgery. DESIGN: Prospective cohort study. AIM: To investigate the role of thyroglobulin (Tg), thyrotropin (TSH) and the TSH:Tg, Tg:TSH ratio in the preoperative diagnosis of thyroid cancer …

A novel truncating AIP mutation, p.W279*, in a familial isolated pituitary adenoma (FIPA) kindred

Güven Barış Cansu, Bengür Taşkıran, Giampaolo Trivellin, Fabio R. Faucz, Constantine A. Stratakis

Download PDF

Familial isolated pituitary adenomas (FIPA) constitute 2-3% of pituitary tumours. AIP is the most commonly mutated gene in FIPA. We herein report a novel germline mutation of the AIP gene in a family with FIPA. We present two patients, a father and his 12-year-old daughter, diagnosed clinically and using laboratory measures with acromegaly-gigantism …

The growth endocrine axis and inflammatory responses after laparoscopic cholecystectomy

Themistoklis Floros, Anastassios Philippou, Dimitrios Bardakostas, Dimitrios Mantas, Michael Koutsilieris

Download PDF

OBJECTIVE: It is well known that conventional surgery leads to detrimental immune and catabolic responses, thus there is growing interest in the effect of minimally invasive techniques on postoperative endocrine and immune function. The aim of this prospective study was to evaluate the growth hormone (GH)/insulin-like growth factor-1 (IGF-1)/IGF binding protein-3 (IGFBP-3) axis and acute phase (interleukin-6, IL-6, and C-reactive protein, CRP) responses in patients who underwent laparoscopic cholecystectomy …

Clinical impact of strict criteria for selectivity and lateralization in adrenal vein sampling

Alessandro Gasparetto, John F. Angle, Pasha Darvishi, Colbey W. Freeman, Ray G. Norby, Robert M. Carey

Download PDF

INTRODUCTION: Selectivity index (SI) and lateralization index (LI) thresholds determine the adequacy of adrenal vein sampling (AVS) and the degree of lateralization. The purpose of this study was investigate the clinical outcome of patients whose adrenal vein sampling was interpreted using “strict criteria” …