Adherence to Mediterranean Diet and Prevention of Excessive Weight Gain during Pregnancy: Study in a Cohort of Normal Weight Caucasian Women

This study investigated the association between adherence to Mediterranean Diet (MD) and the risk of excessive Gestational Weight Gain (GWG).Ninety five Caucasian normal weight pregnant women were recruited within the 16thgestational week. We evaluated the adherence to MD at recruitment (T0) and at third trimester (T1) by validated food frequency questionnaire. Adherence to MD was indicated by a score between 0 and 13. Adequate GWG was defined in according with IOM (Institute of Medicine, 2009) recommendations.The 26.3% dropped out, then the completer participants were 70 (33.2±3.5 ys, 74.3% nulliparous).MD score at T0 was 7.2±1.5 and it did not significantly change at T1. Mean MD score between T0 and T1 was 7.3±1.3: a good adherence to MD, defined by MD score?8, was satisfied by 27.1%. The GWG at T1 was adequate in 64.3%, while exceed in 35.7%. Women with adequate GWG showed a MD score significantly higher than women with excessive GWG (MD score: 7.5±1.3 vs 6.8±1.0, p=0.02). A good adherence to MD was associated with a significantly lower risk ratio of excessive GWG (RR 0.24, 95% CI 0.1-0.9, p=0.04).MD could be a dietary pattern able to prevent excessive GWG in normal weight women

Metabolic correlates of subcutaneous and visceral abdominal fat measured by ultrasonography: a comparison with waist circumference

Background: The relative contribution of visceral (VAT) and subcutaneous (SAT) adipose tissue to cardiometabolic disease is controversial. The aim of this study was to evaluate whether dissecting abdominal fat in VAT and SAT using US may detect stronger and more specific association with MS, MS components, hyperuricemia and altered liver enzymes compared to waist circumference. Methods: We performed a cross-sectional study on 2414 subjects aged 18 to 66 years (71 % women) followed at the International Center for the Assessment of Nutritional Status (ICANS, Milan, Italy). VAT and SAT were measured using ultrasonography. Multivariable logistic regression controlling for age and gender was used to evaluate the association of the parameters of interest (waist circumference (WC), VAT, SAT and VAT + SAT) with the MS (international harmonized definition), its components (high triglycerides, low HDL, high blood pressure, high glucose), high uric acid (>= 7 mg/dl), high alanine transaminase (ALT, >= 30 U/l) and high gamma-glutamyl-transferase (GGT, >= 30 U/l). Results: VAT was independently associated with all the outcomes of interest, while SAT was independently associated with MS and only with high blood pressure and high ALT when we considered the single parameters of MS and NAFLD. VAT had the strongest association with high triglycerides, high ALT and high GGT. The VAT + SAT association had the strongest association with MS. WC had the strongest association with low HDL and high blood pressure. VAT and WC were similarly associated to high glucose and high uric acid. Conclusion: US-determined VAT and SAT are both independently associated with MS. Moreover, to our knowledge, we are the first to show that VAT, being associated to all of the MS components in addition to hyperuricemia and altered liver enzymes, performs equally or better than WC except for high blood pressure and low HDL

3D stereophotogrammetric facial analysis of SMAII patients

Spinal muscular atrophy (SMA) is a rare neurodegenerative disease, due to autosomal recessive mutations on SMN1 gene. It is clinically classified into 4 phenotypes (SMAI-SMAIV) and it is characterized by muscular weakness and atrophy of the voluntary muscles of the legs, arms and trunk [1]. No information is available about soft tissue facial characteristics in these patients. To better define their facial phenotype and to evidence possible modifications, the 3D facial reconstructions of 12 male SMAII patients (3-8 years) were evaluated. All of them were able to sit, but not to walk independently and had respiratory problems, chewing and swallowing difficulties. The facial reconstructions were obtained through a stereophotogrammetric system, after the non-invasive identification of 50 facial reference landmarks, whose 3D coordinates were used to calculate a series of linear measurements. Data were compared with those of healthy controls, matched for age and sex, through the calculation of z-score values [2]. Results show that patients have larger skull base, mandibular and facial widths (z-score = 1.5, 2 and 1.8 respectively), together with an increased height of the nose (z-score = 3) and mandibular body length (z-score = 2.1). The mandibular ramus length is reduced (z-score = -2.6). Results are of interest to define the facial anatomy of these patients, since a detailed knowledge of their facial features can be useful to create ergonomic devices, as respiratory masks, that these patients must daily use

Multicentre Italian study of SARS-CoV-2 infection in children and adolescents, preliminary data as at 10 April 2020

Data on features of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in children and adolescents are scarce. We report preliminary results of an Italian multicentre study comprising 168 laboratory-confirmed paediatric cases (median: 2.3 years, range: 1 day-17.7 years, 55.9% males), of which 67.9% were hospitalised and 19.6% had comorbidities. Fever was the most common symptom, gastrointestinal manifestations were frequent; two children required intensive care, five had seizures, 49 received experimental treatments and all recovered

Abnormal fatty acid metabolism is a core component of spinal muscular atrophy

Objective: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder leading to paralysis and subsequent death in young children. Initially considered a motor neuron disease, extra-neuronal involvement is increasingly recognized. The primary goal of this study was to investigate alterations in lipid metabolism in SMA patients and mouse models of the disease. Methods: We analyzed clinical data collected from a large cohort of pediatric SMA type I-III patients as well as SMA type I liver necropsy data. In parallel, we performed histology, lipid analysis, and transcript profiling in mouse models of SMA. Results: We identify an increased susceptibility to developing dyslipidemia in a cohort of 72 SMA patients and liver steatosis in pathological samples. Similarly, fatty acid metabolic abnormalities were present in all SMA mouse models studied. Specifically, Smn2B/- mice displayed elevated hepatic triglycerides and dyslipidemia, resembling non-alcoholic fatty liver disease (NAFLD). Interestingly, this phenotype appeared prior to denervation. Interpretation: This work highlights metabolic abnormalities as an important feature of SMA, suggesting implementation of nutritional and screening guidelines in patients, as such defects are likely to increase metabolic distress and cardiovascular risk. This study emphasizes the need for a systemic therapeutic approach to ensure maximal benefits for all SMA patients throughout their life

International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.

Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined<5 × 10(-8)) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist