-
Article
Open AccessNew insights into the comorbid conditions of Turner syndrome: results from a long-term monocentric cohort study
Many questions concerning Turner syndrome (TS) remain unresolved, such as the long-term complications and, therefore, the optimal care setting for adults. The primary aim of this long-term cohort study was to ...
-
Article
Open AccessGenetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption
Genetic and epigenetic alterations in the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP) type Ia/c and Ib, respectively. For these heterogeneous diseases charac...
-
Article
Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient
11β-Hydroxylase deficiency (11OHD) represents the second most common cause of congenital adrenal hyperplasia. It is caused by mutations in the CYP11B1 gene localized about 40 kb from the CYP11B2 gene with which i...
-
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...
-
Article
Relationships between thyroid function and autoimmunity with metabolic derangement at the onset of type 1 diabetes: a cross-sectional and longitudinal study
Type 1 diabetes (T1DM) is an autoimmune disease often associated with thyroid abnormalities.
-
Article
Growth hormone treatment of adolescents with growth hormone deficiency (GHD) during the transition period: results of a survey among adult and paediatric endocrinologists from Italy. Endorsed by SIEDP/ISPED, AME, SIE, SIMA
Treatment of adolescents with growth hormone deficiency (GHD) during the transition period is a controversial issue. This paper is a contribution from the Italian community of paediatric and adult endocrinolog...
-
Article
In vitro effects of resveratrol on oxidative stress in diabetic platelets
To evaluate the in vitro effects of resveratrol (RSV) incubation on platelets from compensated and decompensated diabetic patients in order to use it as an adjuvant therapy. The study was performed on 77 diabe...
-
Article
Hearing loss in Turner syndrome: Results of a multicentric study
The purpose of this article was to evaluate otological diseases in 173 patients (pts) with Turner syndrome (TS). Study design: One hundred and seventy-three pts, mean chronological age (CA) 12±6.2 yr. Patients we...
-
Article
Effect of consumption of dark chocolate on lipoproteins and serum lipids
Epidemiological studies suggest that regular consumption of foods and beverages rich in flavonoids is associated with a decreased risk of cardiovascular mortality. Cocoa, the main ingredient of chocolate, is r...
-
Article
Plasma levels of nitric oxide and stroke outcome
Production of reactive oxygen species after cerebral blood flow disruption may enhance tissue damage through multiple molecular pathways. Changes in nitric oxide (NO) metabolism and oxidative stress status wer...
-
Article
Final height in a patient with Laron syndrome after long-term therapy with rhIGF-I and short-term therapy with LHRH-analogue and oxandrolone during puberty
Objective: To report our experience on long-term treatment with recombinant-human-IGF-I (rhIGF-I) of a female patient with Laron syndrome (mutation G223G in the GH receptor gene), who received short-term treat...
-
Article
Changes of Plasma Membrane Properties in a Human Pre-T Cell Line Undergoing Apoptosis
A variety of cellular functions are modulated by the physical properties of the cell membrane, and the modification of intracellular transfer, resulting from loss of membrane integrity, may contribute toward s...
-
Article
Homocysteine-induced inhibition of nitric oxide production in platelets: a study on healthy and diabetic subjects
The molecular mechanisms involved in the platelet activation observed in hyperhomocysteinemia are not known. We aimed to discover if homocysteine concentrations are associated with abnormal platelet nitric ox...
-
Article
Age-related modifications in human unstimulated whole saliva: A biochemical study
Human whole saliva contains a number of antimicrobial agents, and lysozyme, lactoferrin, secretory IgA and peroxidase are among the best known. Peroxidase catalyzes a reaction involved in the inhibition of bac...
-
Article
Increased susceptibility to peroxidation of VLDL from non-insulin-dependent diabetic patients: A possible correlation with fatty acid composition
Recent studies suggested that both oxidized very low density lipoproteins (VLDL) and oxidized high density lipoproteins (HDL) might play a role in the pathogenesis of atherosclerosis. The aim of the present wo...
-
Article
Evidence for iNOS-dependent peroxynitrite production in diabetic platelets
Aims/hypothesis. The aim of the present study was twofold. Firstly, to determine whether diabetic platelets produce more peroxynitrite than normal platelets and secondly to correlate the peroxyni...
-
Article
Changes in the composition of human unstimulated whole saliva with age
The aim of this study was to evaluate changes in the concentration of certain components of human unstimulated whole saliva during aging, in order to better understand the role played fay aging in oral health....
-
Article
Turner's Syndrome: Cardiologic Profile According to the Different Chromosomal Patterns and Long-Term Clinical Follow-Up of 136 Nonpreselected Patients
The preferential association between Turner's syndrome and congenital heart defects (CHD) have been well known since the first description by Morgagni. There are few studies about the different cardiologic pro...
-
Article
Decreased nitric oxide synthase activity in platelets from IDDM and NIDDM patients
Nitric oxide (NO) produced by platelet nitric oxide synthase (NOS) inhibits platelet activation by increased cytoplasmic cGMP levels. The aim of this study was to investigate platelet NOS activity in insulin-...
-
Article
Modifications induced by plasma of gestational hypertensive women on the Na+/K+-ATPase obtained from human placenta
In order to investigate the molecular mechanisms of the inhibition of Na+/K+-ATPase in Gestational Hypertension (GH), we incubated Na+/K+-ATPase purified from human placenta of 6 healthy normotensive women wit...
