Search

Defects of the GNAS gene have been mainly associated with pseudohypoparathyroidism Ia. To date, pathogenic missense, frameshift, non-sense and splicing variants have been described in all the 13 exons of the GNAS gene. Of them, a specific mutation, namely the 4 bp deletion c.565_568delGACT, is currently considered a mutation hotspot. Recent articles performed genotype-phenotype correlations in patients with GNAS -related pseudohypoparathyroidism Ia (PHP1a) but a specific focus on this hotspot is still lacking. We reported two cases, from our department, of PHP1a associated with c.565_568delGACT deletion and performed a literature review of all the previously reported cases of the 4 bp deletion hotspot. We found a higher prevalence of brachydactyly, round face, intellectual disability and subcutaneous/heterotopic ossifications in patients with the c.565_568delGACT as compared to the other variants in the GNAS gene. The present study highlights the different prevalence of some clinical features in patients with the c.565_568delGACT variant in the GNAS gene, suggesting the possibility of a personalized diagnostic follow-up and surveillance for these patients.

Background: Nutrition is an environmental factor affecting bone health. Nutrition is considered essential to achieve and maintain optimal bone mass. Mediterranean diet (MD) has shown to prevent bone disease. Aim of this study is to investigate the relationship between bone health status and adherence the MD., Methods: Four-hundred eighteen healthy people (105 males and 313 females, age 50 ± 14 years) were recruited in the outdoor hospital of the "Campus Salute Onlus" held in Piazza del Plebiscito in Naples, October 17-20th 2013 and 09-11th October 2014. All subjects underwent clinical assessment, calcaneal quantitative ultrasound (QUS) scanner and PREvención con DIeta MEDiterránea (PREDIMED) questionnaire., Results: Globally, prevalence of osteoporosis and osteopenia were 7.7 and 46.0%, respectively. The majority of subjects (60.5%) had an average score (score 6-9) of adherence to MD. The T-score showed positive correlation with PREDIMED score (r = 0.250, p < 0.001). The higher T-scores were positively associated with a higher consumption of extra-virgin olive oil (EVOO), vegetables, fruits, legumes, and fish and negatively associated with consumption of red meat. The higher T-scores were positively associated with the highest odds of PREDIMED scores (higher adherence) (OR 6.91, IC 6.27-7.61, p < 0.001). Multiple regression analysis models indicated that, among the single food items investigated, high T-score can be predicted by consumption of EVOO (p < 0.001), fish (p < 0.001) and fruit (p = 0.002) intake. A PREDIMED score of 3 was found to be predictive for a low T-score (α = 0.05, R-squared index = 0.417)., Conclusions: The results demonstrate a positive correlation between bone health status and adherence to MD, suggesting that a high adherence to MD promotes bone health. The observations here reported confirmed that a specific dietary approach, such as MD, can represent a modifiable environmental factor for osteoporosis' prevention.

The Mediterranean diet is a healthy dietary pattern known to actively modulate the cell membrane properties. Phase angle (PhA) is a direct measure by Bioelectrical Impedance Analysis (BIA) used as marker of cell membrane integrity. Both food behaviour and PhA are influenced by age, sex and body weight. The aim of this study was to cross-sectionally evaluate the association between the adherence to Mediterranean diet and PhA in 1013 healthy adult patients stratified according to sex, age, and body mass index (BMI). The adherence to the Mediterranean diet was evaluated using the PREvención con DIeta MEDiterránea (PREDIMED) questionnaire. PhA was calculated by BIA phase-sensitive system (50 kHz BIA 101 RJL, Akern Bioresearch, Florence, Italy Akern). In both sexes, at ROC analysis a PREDIMED score ≥ 6 predicted a PhA beyond the median value. At the multivariate analysis, among PREDIMED score, age, and BMI, the PREDIMED score was the major determinant of PhA, explaining 44.5% and 47.3% of PhA variability, in males and females respectively ( p < 0.001). A novel association was reported between the adherence to the Mediterranean diet and PhA, independently of sex, age, and body weight. This association uncovered a new potential benefit of the Mediterranean diet on health outcomes, as in both sexes higher adherence to the Mediterranean diet was associated to larger PhAs, as expression of cell membrane integrity.

Growing evidence suggests the causal link between the endocrine-disrupting chemicals (EDCs) and the global obesity epidemics, in the context in the so-called "obesogenic environment". Dietary intake of contaminated foods and water, especially in association with unhealthy eating pattern, and inhalation of airborne pollutants represent the major sources of human exposure to EDCs. This is of particular concern in view of the potential impact of obesity on chronic non-transmissible diseases, such as type 2 diabetes, cardiovascular disease, and hormone-sensitive cancers. The key concept is the identification of adipose tissue not only as a preferential site of storage of EDCs, but also as an endocrine organ and, as such, susceptible to endocrine disruption. The timing of exposure to EDCs is critical to the outcome of that exposure, with early lifetime exposures (e.g., fetal or early postnatal) particularly detrimental because of their permanent effects on obesity later in life. Despite that the mechanisms operating in EDCs effects might vary enormously, this minireview is aimed to provide a general overview on the possible association between the pandemics of obesity and EDCs, briefly describing the endocrine mechanisms linking EDCs exposure and latent onset of obesity.

Psoriasis is a common, chronic, immune-mediated skin disease with systemic pro-inflammatory activation, where both environmental and genetic factors contribute to its pathogenesis. Among the risk factors for psoriasis, evidence is accumulating that nutrition plays a major role, per se, in psoriasis pathogenesis. In particular, body weight, nutrition, and diet may exacerbate the clinical manifestations, or even trigger the disease. Understanding the epidemiological relationship between obesity and psoriasis is also important for delineating the risk profile for the obesity-related comorbidities commonly found among psoriatic patients. Moreover, obesity can affect both drug's pharmacokinetics and pharmacodynamics. Additionally, the overall beneficial effects on the obesity-associated comorbidities, clinical recommendations to reduce weight and to adopt a healthy lifestyle could improve the psoriasis severity, particularly in those patients with moderate to severe disease, thus exerting additional therapeutic effects in the conventional treatment in obese patients with psoriasis. Education regarding modifiable environmental factors is essential in the treatment of this disease and represents one of the primary interventions that can affect the prognosis of patients with psoriasis. The goal is to make psoriatic patients and health care providers aware of beneficial dietary interventions. The aim of this review is to assess the relevance of the environmental factors as modifiable risk factors in psoriasis pathogenesis, with particular regard to the involvement of obesity and nutrition in the management of psoriasis, providing also specific nutrition recommendations.

Background: Obesity, metabolic syndrome (MetS), and psoriasis, largely driven by environmental factors, show multiple bidirectional associations, with important metabolic implications in psoriatic patients. Besides body mass index (BMI) as a measure of obesity, data on phase angle (PhA), a direct measure by bioelectrical impedance analysis (BIA), used as a marker of cellular health and a predictor of morbidity and mortality in various diseases, are still lacking in psoriasis. In this case-control, cross-sectional study, we investigated the PhA in 180 pairs of adult psoriatic patients and healthy controls, evaluating also the potential use of the PhA as marker of the clinical severity, the quality of life, and the presence of the MetS in psoriatic patients., Methods: Anthropometric measures, metabolic profile and bioelectrical variables were evaluated. The clinical severity was assessed by standardized psoriasis area and severity index (PASI) score and c-reactive protein (CRP) levels, and the quality of life was evaluated by dermatology life quality index (DLQI). MetS was diagnosed according to Adult Treatment Panel III., Results: Psoriatic patients presented smaller PhA (p < 0.001) and higher prevalence MetS compared with controls. The PhA was significantly associated with number of parameters of MetS in both groups (p < 0.001). After adjusting for BMI, this association remained significant in psoriatic patients only (p < 0.001). Among psoriatic patients, the PhA was the major index value for the diagnosis of MetS (OR 5.87, 95 % CI 5.07-6.79) and was inversely associated with both PASI score and DLQI, independently of BMI (p < 0.001). At multiple regression analysis, the PhA well predicted the PASI score and DLQI. Based on ROC curves, the most sensitive and specific cutoffs of PhA to predict the highest PASI score and the lowest DQLI were ≤4.8° and ≤4.9°, respectively., Conclusions: We reported that psoriatic patients presented small PhAs, with a novel association between PhA, clinical severity, quality of life in psoriatic patients, and MetS. Further studies are required to validate the PhA's prognostic ability in assessing the clinical severity and MetS in psoriatic patients.

Background: Many studies have evaluated the role of individual nutrients on the development of psoriasis. However, only few studies have investigated the effect of a healthy eating pattern, such as the Mediterranean diet. In this study, we aimed to investigate the relationship between adherence to the Mediterranean diet, the body composition and the severity of psoriasis in a group of naïve-treatment patients with psoriasis., Methods: This is a cross-sectional case-control observational study. Sixty-two patients (49 males and 13 females, mean age: 50.2±10.5yrs) affected with mild-to-severe psoriasis were consecutively enrolled. Sixty-two age-, sex- and body mass index (BMI)-matched healthy subjects served as control group. A validated 14-item questionnaire (PREDIMED: PREvención con DIeta MEDiterránea) was used for the assessment of adherence to the Mediterranean diet. The severity of psoriasis was by assessed by standardized Psoriasis Area and Severity Index (PASI) score and C-reactive protein (CRP) levels. Body composition was analyzed with bioelectrical impedance analysis., Results: A higher percentage of psoriatic patients had a lower PREDIMED score compared to the control group (30.6% vs 4.8%). PASI score was significantly associated with the percentage of fat mass (FM%) and CRP levels. PASI score and CRP levels were significantly associated with the dietary components included in the PREDIMED questionnaire or with the PREDIMED score. At multiple regression analysis, the major predictor of PASI score were FM among BIA parameters, (r(2)=0.537, β=0.740, p<0.001), and FM (r(2)=0.537, β=0.603, p<0.001) and PREDIMED score (r(2)=0.599, β=-0.296, p=0.007) among anthropometric measures, FM and PREDIMED score. Finally, among all items of the PREDIMED questionnaire, EVOO (r(2)=0.548, β=-0.741, p<0.001), and fish consumption (r(2)=0.139, β=-0.372, p=0.005) have an independent predictive value for PASI score and CRP levels., Conclusions: This is the first study to evaluate the association between adherence to the Mediterranean diet and the severity of psoriasis. Moreover, our study highlights the usefulness of the assessment of body composition by bioelectrical impedance analysis in the evaluation of the psoriatic patients.