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Article
A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation
Biallelic loss-of-function mutations of AIRE cause the autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED) syndrome. However, single nucleotide mutations may cause a milder phenotype. In this ...
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Correction to: A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation
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Open AccessAutoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare recessive inherited disease, caused by AutoImmune Regulator (AIRE) gene mutations and characterized by three major manifestations: chronic mucocutaneous ...
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Article
The relationship between hyperthyrotropinemia and metabolic and cardiovascular risk factors in a large group of overweight and obese children and adolescents
Mild TSH elevations are frequently observed in obese patients, in the absence of any detectable thyroid disease. Our objective is to evaluate the relationship between the raised TSH levels and the biochemical ...
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Article
Evaluation of function and structure of arterial wall in girls and young women with Turner syndrome
Patients with Turner syndrome (TS) are frequently affected by congenital as well as acquired cardiovascular diseases. The aim of the study was to evaluate the blood pressure, the endothelial function (FMD) and...
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Article
Prematurity and low birth weight lead to altered bone geometry, strength, and quality in children
Prematurity and low birth weight are associated with a decrease in bone mass. Aim of the study was to investigate bone geometry, strength, and quality in children born at term small for gestational age (term S...
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Article
Incidence of congenital hypothyroidism in the Autonomous Province of Bolzano: benefit of increased iodine intake
Although a nation-wide salt iodization program on voluntary basis was implemented in 2005, many areas in our country are still characterized by mild iodine deficiency. Differently from the rest of Italy, an ef...
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The natural history of the hyperthyrotropinemia of children born prematurely
Objective: Non-autoimmune hyperthyrotropinemia has been previously reported among children born prematurely. The aim of this study was to follow up their thyroid function, volume, and structure a...
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Article
Changes in lifestyle improve body composition, thyroid function, and structure in obese children
Background: Alterations in thyroid function and structure have been reported in obesity. Function reverses to normal after weight loss, but nothing is known about structure. Aim: To evalu...
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Article
The use of local reference growth charts for clinical use or a universal standard: A balanced appraisal
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A national study of iodine status in Albania
Objective: The aim of the study was to determine the iodine status in Albania following 11 yr of iodine prophylaxis and to evaluate factors influencing the outcome. Design: Eight hundred ...
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Article
Acute ghrelin response to intravenous dexamethasone administration in idiopathic short stature or isolated idiopathic growth hormone-deficient children
Acylated ghrelin has been originally described for its potent GH-releasing activity mediated by the activation of the GH secretagogue receptor type 1a. More recently, ghrelin has been reported to exert several...
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Article
Circulating ghrelin levels in newborns are not associated to gender, body weight and hormonal parameters but depend on the type of delivery
Ghrelin, a new gastric-derived hormone, probably plays a major role in managing energy balance and the neuroendocrine response to starvation. Information about the age-related variation in ghrelin secretion is...
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Article
Influence of Growth Hormone on a New Marker of Cartilage Metabolism (Chondrex)
The aim of this study was to evaluate the usefulness of a major secretory protein of human chondrocytes (chondrex) as a potential serum marker of bone responsiveness to growth hormone (GH). The study included 18...
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Article
The level of bioavailable growth hormone (GH) after the first GH injection predicts the first year’s growth response in GH-deficient children
Serum GH levels were measured in 9 prepubertal children with growth hormone (GH) deficiency using an immunofluorometric assay (IFMA) and a Nb2 cell bioassay, prior to and 2, 4, 6 and 12 hours after the first hGH ...
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Article
Growth hormone bioactivity and immunoactivity in tall children
In subjects with constitutional tall stature, both low and high GH response to stimulation tests have been observed when measured by commercial kits. To investigate the reason for these conflicting results, we...
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Article
Evaluation of growth hormone bioactivity using the Nb2 cell bioassay in children with growth disorders
The Nb2 cell bioassay could be a useful tool for evaluating human growth hormone (hGH) bioactivity, but is not specific for hGH since it relies on the ability of the hormone to produce effects by cross-reacting w...
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Article
Age-Related Variation in Left Ventricular Myocardial Contractile State Expressed by the Stress Velocity Relation
The assessment of ventricular function plays an important role in the pre- and postoperative management of many congenital heart abnormalities. Normal ranges in left ventricular systolic function indices have...
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Article
A case of persistent thyrotoxic myopathy
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Frequency of Hashimoto's thyroiditis in children with type 1 diabetes mellitus
A total of 1419 children with type 1 diabetes mellitus was investigated in order to assess the true frequency of Hashimoto's thyroiditis (HT), diagnosed by microsomal and/or thyroglobulin autoantibodies, by ul...
