Pituitary function and morphology in Fabry disease.

Endocrine abnormalities are known to affect patients with Fabry disease (FD). Pituitary gland theoretically represents an ideal target for FD because of high vascularization and low proliferation rate. We explored pituitary morphology and function in a cohort of FD patients through a prospectic, monocentric study at an Academic Tertiary Center. The study population included 28 FD patients and 42 sex and age-matched normal subjects. The protocol included a contrast enhancement pituitary MRI, the assessment of pituitary hormones, anti-pituitary, and anti-hypothalamus antibodies. At pituitary MRI, an empty sella was found in 11 (39%) FD patients, and in 2 (5%) controls (p < 0.001). Pituitary volume was significantly smaller in FD than in controls (p < 0.001). Determinants of pituitary volume were age and alpha-galactosidase enzyme activity. Both parameters resulted independently correlated at multivariate analysis. Pituitary function was substantially preserved in FD patients. Empty sella is a common finding in patients with FD. The major prevalence in the elderly supports the hypothesis of a progressive pituitary shrinkage overtime. Pituitary function seems not to be impaired in FD. An endocrine workup with pituitary hormone assessment should be periodically performed in FD patients, who are already at risk of cardiovascular complications

Flavors identification inversely correlates with Body Mass Index (BMI)

Background and aims Dietary choices are influenced by several factors, including physiological, social or genetic factors. Among these, flavor is the most important determinant modulating food preferences. Aim of the present study was to assess flavor identification abilities in patients with obesity (Ob) in comparison with matched normal weight (NW) and over-weight (OW) subjects using a specific and validated chemosensory test. Methods and results The flavor test was administered to 140 Ob patients recruited in the obesity outpatient Unit at the Federico II University hospital and to the same number of NW and OW subjects matched by sex, age and smoking habit. Flavor score (FS) inversely correlated with BMI. Median [Q1; Q3] FS was significantly higher in NW (14.5 [12; 16]) than in Ob (13 [11; 15], p<0.001) and not significantly different from OW (15 [12; 16]) individuals. FS was also higher in OW than in Ob subjects (p<0.005). When separated according to age quartiles, the BMI-related differences in FS were still significant in younger quartiles, while they were abolished in the older. Conclusions BMI is a critical factor modulating flavor identification, particularly in young subjects. Further investigations are needed to explore the precise mechanism and the causal relationship between body weight and olfactory dysfunctions

Role of dehydroepiandrosterone sulfate levels on body composition after laparoscopic adjustable gastric banding in pre-menopausal morbidly obese women.

Context. GH secretion is reduced in obese subjects and increases after body weight loss. It is still unclear if changes in the GH/IGF-I axis after laparoscopic-adjustable silicone gastric banding (LASGB) are associated with changes of body composition. Objective. To analyse the relationships between changes in the GH/IGF-I axis and those of body weight and composition before and after LASGB. Design. Observational, prospective. Setting University ‘Federico II’ of Naples (Italy). Patients. Seventy-two severely obese females (BMI: 44·9 ± 4·68; mean age: 33·1 ± 11·34 years) were studied. Main outcome measures GH peak after GHRH plus arginine test, IGF-I, IGFBP-3 and ALS levels, fat mass (FM) and free fat mass (FFM) (by Bioelectrical Impedance Analysis) at baseline and 6 months after LASGB. The change in percentage of individual variables was calculated as well as that of excess of body weight loss (EBWL%). The FM%, FFM% and EBWL% were correlated with peak GH and IGF-I levels changes. Results. At baseline, GH deficiency (GHD) (GH peak = 4·1 μg/l) was found in 22 patients (31%), 16 of them also had IGF-I deficiency (< –2SDS). IGF-I levels were inversely correlated with waist circumference (r=–0·72, P<0·001) and FM% (r=–0·75, P< 0·001). Post-LASGB the patients were classified as follows: group (1) GH and IGF-I sufficient (n= 44; 61·1%); group (2) GH and IGF-I deficient (n= 14; 19·4%) and group (3) GH sufficient and IGF-I deficient (n= 14; 19·4%). The percentage changes of EWBL (P < 0·05, P= 0·051, respectively) and FM (P <0·001, P< 0·01, respectively) were lower in groups (2) and (3) than in group (1). At the stepwise linear regression analysis, postoperative IGF-I levels were the strongest eterminant of percent changes of FM (P<0·0001), of FFM (P = 0·009) and of EBWL (P < 0·0001). Conclusions. IGF-I levels is the most sensitive to unfavourable changes in body composition 6 months after LASGB making investigation of the comatotropic axis useful in the evaluation of bariatric surgery outcomes

The IFN-β 1b effect on Cu Zn superoxide dismutase (SOD1) in peripheral mononuclear blood cells of relapsing-remitting multiple sclerosis patients and in neuroblastoma SK-N-BE cells.

Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease leading to axonal injury. Even if the etiology of MS is still unknown the disease begins with inflammation involving autoreactive T lymphocytes activation in genetically susceptible subjects. Interferon beta-1b (IFN β 1b) is one of the most used drug in the MS therapy. The results obtained in this study show that the concentration of SOD1 in CSF of relapsing-remitting MS (RR-MS) patients, evaluated by Enzyme-linked immunosorbent assay (ELISA), is decreased compared to pathological controls. Moreover, the Western blotting analysis demonstrated that SOD1 in human peripheral blood mononuclear cells (PBMC) in heathy controls was significantly higher compared to MS subjects before starting DMT therapy. In addition IFN β 1b therapy causes an increase of intracellular SOD1 protein as well as mRNA levels in PBMC. Moreover, the treatment of neuroblastoma SK-N-BE cells with IFN β 1b increased SOD1 protein and mRNA levels; these data also suggest that neuroprotective effect of this physiological molecule is, at least in part, carried out through its effect on SOD1. This study demonstrate that DMT therapy is able to increase SOD1 expression in PBMC of RR-MS patients. Therefore, the effectiveness of DMT therapy can be ascribed, at least in part, to an increased levels of this antioxidant enzyme as further confirmed by in vitro studies in SK-N-BE cells

Growth hormone status in morbidly obese subjects and correlation with body composition

ABSTRACT. Morbidly obese subjects are characterized by multiple endocrine abnormalities and these are paralleled by unfavorable changes in body composition. In obese individuals, either 24-h spontaneous or stimulated GH secretion is impaired without an organic pituitary disease and the severity of the secretory defect is proportional to the degree of obesity. The GHRH+arginine (GHRH+ARG) test is likely to be the overall test of choice in clinical practice to differentiate GH deficiency (GHD) patients. Similarly to other provocative tests, GHRH+ARG is influenced by obesity per se. Therefore, a new cut-off limit of peak GH response of 4.2 μg/l in obese subjects has been recently assumed. The aim of the present study was to investigate the reciprocal influence between decreased GH secretion and body composition in a group of 110 morbidly obese subjects, using the new cut-off limit of peak GH response to GHRH+ARG test for these subjects. In our study, GHD was identified in 27.3% of the obese subjects, without gender difference. In GDH obese subjects body mass index (BMI), waist circumference, waist-to-hip ratio (WHR), fat mass (FM), and resistance (R) were higher while reactance (Xc), phase angle, body cell mass (BCM), IGF-I, or IGF-I z-scores were lower than in normal responders (p<0.001). In all obese subjects, GH peak levels showed a negative correlation with age, BMI, waist circumference and FM, and a positive correlation with IGF-I. In the stepwise multiple linear regression, waist circumference and FM were the major determinants of GH peak levels and IGF-I. In conclusion, using the new cut-off limit of peak GH response to GHRH+ARG test for obese subjects, about 1/3 morbidly obese subjects were GHD. GHD subjects showed a significantly different body composition compared with normal responders, and the secretory defect was correlated to different anthropometric variables with waist circumference and FM as the major determinants